Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values X1000gp3_AA X1000gp3_AC X1000gp3_AF X1000gp3_AFR_AF X1000gp3_AMR_AF X1000gp3_AN X1000gp3_CIEND X1000gp3_CIPOS X1000gp3_CS X1000gp3_DP X1000gp3_EAS_AF X1000gp3_END X1000gp3_EUR_AF X1000gp3_IMPRECISE X1000gp3_MC X1000gp3_MEINFO X1000gp3_MEND X1000gp3_MLEN X1000gp3_MSTART X1000gp3_NS X1000gp3_SAS_AF X1000gp3_SVLEN X1000gp3_SVTYPE X1000gp3_TSD ACHILLES_Lineage_Results_Top_Genes CGC_Cancer.Germline.Mut CGC_Cancer.Molecular.Genetics CGC_Cancer.Somatic.Mut CGC_Cancer.Syndrome CGC_Chr CGC_Chr.Band CGC_GeneID CGC_Name CGC_Other.Germline.Mut CGC_Tissue.Type COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions COSMIC_overlapping_primary_sites ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs ESP_AA ESP_AAC ESP_AA_AC ESP_AA_AGE ESP_AA_GTC ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_CA ESP_CDP ESP_CG ESP_CP ESP_Chromosome ESP_DBSNP ESP_DP ESP_EA_AC ESP_EA_AGE ESP_EA_GTC ESP_EXOME_CHIP ESP_FG ESP_GL ESP_GM ESP_GS ESP_GTC ESP_GTS ESP_GWAS_PUBMED ESP_MAF ESP_PH ESP_PP ESP_Position ESP_TAC ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym HGNC_Accession.Numbers HGNC_CCDS.IDs HGNC_Chromosome HGNC_Date.Modified HGNC_Date.Name.Changed HGNC_Date.Symbol.Changed HGNC_Ensembl.Gene.ID HGNC_Ensembl.ID.supplied.by.Ensembl. HGNC_Entrez.Gene.ID.supplied.by.NCBI. HGNC_Enzyme.IDs HGNC_Gene.family.description HGNC_HGNC.ID HGNC_Locus.Group HGNC_Locus.Type HGNC_Name.Synonyms HGNC_OMIM.ID.supplied.by.NCBI. HGNC_Previous.Names HGNC_Previous.Symbols HGNC_Primary.IDs HGNC_Pubmed.IDs HGNC_Record.Type HGNC_RefSeq.IDs HGNC_RefSeq.supplied.by.NCBI. HGNC_Secondary.IDs HGNC_Status HGNC_Synonyms HGNC_UCSC.ID.supplied.by.UCSC. HGNC_UniProt.ID.supplied.by.UniProt. HGNC_VEGA.IDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change ORegAnno_bin UniProt_alt_uniprot_accessions build ccds_id contaminant_fraction contaminant_lod context covered dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP.._NR dbNSFP_GERP.._RS dbNSFP_GERP.._RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_fold.degenerate dbNSFP_genename dbNSFP_hg18_pos.1.coor. dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon dbsnp_site gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_id gene_type havana_transcript improper_pairs init_n_lod judgement map_Q0_reads n_alt_count n_alt_sum n_ref_count n_ref_sum normal_best_gt normal_power power score secondary_variant_classification strand t_alt_count t_alt_max_mapq t_alt_sum t_del_count t_ins_count t_lod_fstar t_ref_count t_ref_max_mapq t_ref_sum total_pairs transcript_id tumor_f tumor_power MT-RNR1 4549 __UNKNOWN__ __UNKNOWN__ M 1543 1543 __UNKNOWN__ RNA SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:1543T>C ENST00000389680.2 + 0 896 mitochondrially encoded 12S RNA NA NA NA CCCCTACGCATTTATATAGAG 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA mitochondria 2012-11-16 2012-05-11 2005-02-16 ENSG00000211459 ENSG00000211459 4549 ncRNAs / Ribosomal RNA genes 7470 non-coding RNA RNA, ribosomal 561000 12S RNA MTRNR1 NA Standard NA Approved ENST00000389680.2: chrM.hg19:g.1543T>C NA hg19 0.02 1.780848 GCAxTTA COVERED NOVEL MT-RNR1-201 KNOWN basic Mt_rRNA NA Mt_rRNA 1 22.267754 KEEP 0 0 0 74 2357 TT 1 0.999881 0 + 4 60 151 0 0 9.864727 88 60 3221 222 ENST00000389680.2 0.043478 0.999881 MT-ND1 4535 __UNKNOWN__ __UNKNOWN__ M 3971 3971 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:3971C>T ENST00000361390.2 + 1 665 c.665C>T c.(664-666)cCa>cTa p.P222L P03886 NU1M_HUMAN mitochondrially encoded NADH dehydrogenase 1 222 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1) 34 Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCCCTTCGCCCTATTCTTCAT 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000198888 ENSG00000198888 4535 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7455 protein-coding gene gene with protein product complex I ND1 subunit, NADH-ubiquinone oxidoreductase chain 1 516000 NADH dehydrogenase 1 MTND1 NA Standard YP_003024026 NA Approved ND1, NAD1 P03886 ENST00000361390.2:c.665C>T chrM.hg19:g.3971C>T ENSP00000354687:p.Pro222Leu NA C0JKH6|Q37523 hg19 0.02 4.249451 GCCxTAT COVERED NOVEL MT-ND1-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 28.592765 KEEP 6 0 0 95 3388 CC 1 0.999998 0 + 8 60 291 0 0 20.246959 109 60 4063 276 ENST00000361390.2 0.068376 0.999998 MT-ND2 4536 __UNKNOWN__ __UNKNOWN__ M 5461 5461 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:5461G>A ENST00000361453.3 + 1 992 c.992G>A c.(991-993)gGc>gAc p.G331D P03891 NU2M_HUMAN mitochondrially encoded NADH dehydrogenase 2 331 NA A -> S (in AD-MT). {ECO:0000269|PubMed:1370613}.|A -> T. {ECO:0000269|PubMed:7530363}. cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(2)|lung(1) 3 CACACTCATCGCCCTTACCAC 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000198763 ENSG00000198763 4536 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7456 protein-coding gene gene with protein product complex I ND2 subunit, NADH-ubiquinone oxidoreductase chain 2 516001 NADH dehydrogenase 2 MTND2 NA Standard YP_003024027 NA Approved ND2, NAD2 P03891 ENST00000361453.3:c.992G>A chrM.hg19:g.5461G>A ENSP00000355046:p.Gly331Asp NA Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4 hg19 0.02 3.994995 ATCxCCC COVERED NOVEL MT-ND2-201 KNOWN basic|appris_principal protein_coding NA protein_coding 6 22.570144 KEEP 0 0 0 75 2535 GG 1 0.999995 0 + 5 60 169 0 0 10.433485 107 60 3754 235 ENST00000361453.3 0.044643 0.999995 MT-CO3 4514 __UNKNOWN__ __UNKNOWN__ M 9317 9317 __UNKNOWN__ Silent SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:9317T>C ENST00000362079.2 + 1 111 c.111T>C c.(109-111)ttT>ttC p.F37F P00414 COX3_HUMAN mitochondrially encoded cytochrome c oxidase III 37 NA aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277) cytochrome-c oxidase activity (GO:0004129) breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 TGATTTCACTTCCACTCCATA 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant mitochondria 2012-11-16 2005-02-15 2005-02-16 ENSG00000198938 ENSG00000198938 4514 Mitochondrial respiratory chain complex / Complex IV 7422 protein-coding gene gene with protein product 516050 cytochrome c oxidase III MTCO3 NA Standard YP_003024032 NA Approved COX3, COIII, CO3 P00414 ENST00000362079.2:c.111T>C chrM.hg19:g.9317T>C NA Q14Y83 hg19 0.02 6.680079 ACTxCCA COVERED NOVEL MT-CO3-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 30.088462 KEEP 0 0 0 100 3109 TT 1 1 0 + 13 60 469 0 0 32.462591 179 60 6402 374 ENST00000362079.2 0.067708 1 MT-ND4L 4539 __UNKNOWN__ __UNKNOWN__ M 10737 10737 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:10737C>T ENST00000361335.1 + 1 268 c.268C>T c.(268-270)Cta>Tta p.L90L P03901 NU4LM_HUMAN mitochondrially encoded NADH dehydrogenase 4L 90 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|endometrium(2)|kidney(2) 5 GCCTAGACTACGTACATAACC 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000212907 ENSG00000212907 4539 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7460 protein-coding gene gene with protein product complex I ND4L subunit, NADH-ubiquinone oxidoreductase chain 4L 516004 NADH dehydrogenase 4L MTND4L NA Standard YP_003024034 NA Approved ND4L, NAD4L P03901 ENST00000361335.1:c.268C>T chrM.hg19:g.10737C>T NA hg19 0.02 4.654422 CTAxGTA COVERED NOVEL MT-ND4L-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 18.657118 KEEP 0 0 0 62 2069 CC 1 0.999984 0 + 8 60 260 0 0 17.663668 97 60 3487 213 ENST00000361335.1 0.07619 0.999984 MT-TH 4564 __UNKNOWN__ __UNKNOWN__ M 12173 12173 __UNKNOWN__ RNA SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:12173A>G ENST00000387441.1 + 0 36 mitochondrially encoded tRNA histidine NA NA NA CAGATTGTGAATCTGACAACA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA mitochondria 2012-11-16 2005-02-15 2005-02-16 ENSG00000210176 ENSG00000210176 4564 ncRNAs / Transfer RNA, mitochondrial 7487 non-coding RNA RNA, transfer 590040 tRNA histidine MTTH NA Standard NA Approved trnH ENST00000387441.1: chrM.hg19:g.12173A>G NA hg19 0.02 2.171451 TGAxTCT COVERED NOVEL MT-TH-201 KNOWN basic Mt_tRNA NA Mt_tRNA 0 17.447022 KEEP 0 0 0 58 1824 AA 1 0.999895 0 + 5 60 187 0 0 12.628471 88 60 3238 203 ENST00000387441.1 0.053763 0.999895 MT-ND5 4540 __UNKNOWN__ __UNKNOWN__ M 12715 12715 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:12715T>C ENST00000361567.2 + 1 379 c.379T>C c.(379-381)Tcc>Ccc p.S127P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 127 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 TTTTCCTAATTACCATACTAA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000198786 ENSG00000198786 4540 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7461 protein-coding gene gene with protein product complex I ND5 subunit, NADH-ubiquinone oxidoreductase chain 5 516005 NADH dehydrogenase 5 MTND5 NA Standard YP_003024036 NA Approved ND5, NAD5 P03915 ENST00000361567.2:c.379T>C chrM.hg19:g.12715T>C ENSP00000354813:p.Ser127Pro NA Q34773|Q8WCY3 hg19 0.02 1.871977 AATxACC COVERED NOVEL MT-ND5-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 11.430265 KEEP 0 0 0 38 1110 TT 1 0.999894 0 + 6 60 225 0 0 15.732446 86 60 2962 156 ENST00000361567.2 0.065217 0.999895 MT-ND5 4540 __UNKNOWN__ __UNKNOWN__ M 13195 13195 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:13195G>A ENST00000361567.2 + 1 859 c.859G>A c.(859-861)Gtc>Atc p.V287I P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 287 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 TCACCACTCTGTTCGCAGCAG 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000198786 ENSG00000198786 4540 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7461 protein-coding gene gene with protein product complex I ND5 subunit, NADH-ubiquinone oxidoreductase chain 5 516005 NADH dehydrogenase 5 MTND5 NA Standard YP_003024036 NA Approved ND5, NAD5 P03915 ENST00000361567.2:c.859G>A chrM.hg19:g.13195G>A ENSP00000354813:p.Val287Ile NA Q34773|Q8WCY3 hg19 0.02 6.152013 TCTxTTC COVERED NOVEL MT-ND5-201 KNOWN basic|appris_principal protein_coding NA protein_coding 3 29.193313 KEEP 0 0 0 97 3424 GG 1 1 0 + 8 60 281 0 0 18.107842 153 60 5788 334 ENST00000361567.2 0.049689 1 MT-ND5 4540 __UNKNOWN__ __UNKNOWN__ M 13929 13929 __UNKNOWN__ Missense_Mutation SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:13929G>C ENST00000361567.2 + 1 1593 c.1593G>C c.(1591-1593)agG>agC p.R531S P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 531 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 TTCTACCCTAGCATCACACAC 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense mitochondria 2011-07-04 2005-02-15 2005-02-16 ENSG00000198786 ENSG00000198786 4540 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7461 protein-coding gene gene with protein product complex I ND5 subunit, NADH-ubiquinone oxidoreductase chain 5 516005 NADH dehydrogenase 5 MTND5 NA Standard YP_003024036 NA Approved ND5, NAD5 P03915 ENST00000361567.2:c.1593G>C chrM.hg19:g.13929G>C ENSP00000354813:p.Arg531Ser NA Q34773|Q8WCY3 hg19 0.02 4.700035 CTAxCAT COVERED NOVEL MT-ND5-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 28.8816 KEEP 0 0 0 96 3345 GG 1 1 0 + 8 60 305 0 0 21.161822 126 60 4721 305 ENST00000361567.2 0.059701 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ M 16146 16146 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:16146G>A NA NA MT-TP (123 upstream) : None (None downstream) NA NA NA ATAAATACTTGACCACCTGTA 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrM.hg19:g.16146G>A NA hg19 0.02 4.156089 CTTxACC COVERED NOVEL 0 3 15.650974 KEEP 0 0 0 52 1839 GG 1 1 0 6 60 203 0 0 15.618396 37 60 1421 247 0.139535 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ M 16392 16392 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrM:16392G>A NA NA MT-TP (369 upstream) : None (None downstream) NA NA NA CTCAGATAGGGGTCCCTTGAC 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrM.hg19:g.16392G>A NA hg19 0.02 6.811736 AGGxGTC COVERED NOVEL 0 13 21.668797 KEEP 0 0 0 72 2491 GG 1 1 0 11 60 396 0 0 28.379083 122 60 4378 315 0.082707 1 BET1L 51272 __UNKNOWN__ __UNKNOWN__ 11 203788 203788 __UNKNOWN__ 3'UTR SNP C C T rs2280543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:203788C>T ENST00000382762.3 - 0 1956 RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000325147.9_3'UTR NM_001098787.1|NM_016526.4 NP_001092257.1|NP_057610.2 Bet1 golgi vesicular membrane trafficking protein-like NA NA NA all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) GATGAGTCAACCTTGCTGGGT 0.582 NA C||| 405 0.0808706 0.0651 0.0389 5008 , , NA 24010 0.1548 NA 0.0328 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF234160 CCDS7689.1, CCDS41582.1 11p15.5 2013-03-08 2013-03-08 ENSG00000177951 ENSG00000177951 51272 19348 protein-coding gene gene with protein product golgi integral membrane protein 3 615417 blocked early in transport 1 homolog (S. cerevisiae) like, blocked early in transport 1 homolog (S. cerevisiae)-like NA 9242691, 15004235 Standard NM_016526 NM_016526 NA Approved GS15, GOLIM3 uc001loe.2 Q9NYM9 OTTHUMG00000119071 ENST00000382762.3:c.*1514G>A chr11.hg19:g.203788C>T NA hg19 CCDS41582.1 0.02 8.771247 CAAxCTT COVERED NOVEL BET1L-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239285.1 1 16.250881 KEEP 0 0 0 54 1910 CC 1 1 0 - 7 60 262 0 0 16.322003 196 60 7230 311 ENST00000382762.3 0.034483 1 BET1L 51272 __UNKNOWN__ __UNKNOWN__ 11 204680 204680 __UNKNOWN__ 3'UTR SNP G G A rs11245997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:204680G>A ENST00000382762.3 - 0 1064 RP11-304M2.5_ENST00000526963.1_RNA|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000325147.9_3'UTR NM_001098787.1|NM_016526.4 NP_001092257.1|NP_057610.2 Bet1 golgi vesicular membrane trafficking protein-like NA NA NA all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) TTCATCCACAGCCCGTTCTCC 0.557 NA A||| 408 0.0814696 0.0658 0.0403 5008 , , NA 19231 0.1548 NA 0.0338 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF234160 CCDS7689.1, CCDS41582.1 11p15.5 2013-03-08 2013-03-08 ENSG00000177951 ENSG00000177951 51272 19348 protein-coding gene gene with protein product golgi integral membrane protein 3 615417 blocked early in transport 1 homolog (S. cerevisiae) like, blocked early in transport 1 homolog (S. cerevisiae)-like NA 9242691, 15004235 Standard NM_016526 NM_016526 NA Approved GS15, GOLIM3 uc001loe.2 Q9NYM9 OTTHUMG00000119071 ENST00000382762.3:c.*622C>T chr11.hg19:g.204680G>A NA hg19 CCDS41582.1 0.02 8.064331 ACAxCCC COVERED NOVEL BET1L-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239285.1 1 18.899887 KEEP 0 0 0 63 2264 GG 1 1 0 - 9 60 310 0 0 19.286216 195 60 7368 321 ENST00000382762.3 0.044118 1 RIC8A 60626 __UNKNOWN__ __UNKNOWN__ 11 214544 214544 __UNKNOWN__ 3'UTR SNP C C T rs10081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:214544C>T ENST00000325207.5 + 0 2133 RIC8A_ENST00000527696.1_3'UTR|RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000526104.1_3'UTR NM_021932.4 NP_068751.4 Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085) endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) TGGACTGCAACGGTCTTCTTG 0.512 NA T||| 1240 0.247604 0.1982 0.2651 5008 , , NA 22417 0.5714 NA 0.0586 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022870 CCDS7690.1, CCDS65982.1 11p15.5 2013-08-05 2013-08-05 ENSG00000177963 ENSG00000177963 60626 29550 protein-coding gene gene with protein product 609146 resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) NA 10985349, 11230166 Standard NM_021932 XM_005253052 NA Approved synembryn, synembryn-A uc001lof.3 Q9NPQ8 OTTHUMG00000119069 ENST00000325207.5:c.*194C>T chr11.hg19:g.214544C>T NA Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7 hg19 CCDS7690.1 0.02 28.199033 CAAxGGT COVERED NOVEL RIC8A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000239282.1 5 34.842809 KEEP 0 1 32 127 4328 CC 1 1 0 + 20 60 735 0 0 44.242013 633 60 21717 975 ENST00000325207.5 0.030628 1 SIRT3 23410 __UNKNOWN__ __UNKNOWN__ 11 215904 215904 __UNKNOWN__ 3'UTR SNP G G A rs12226402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:215904G>A ENST00000382743.4 - 0 2096 NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIR3_HUMAN sirtuin 3 NA NA aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476) membrane (GO:0016020)|mitochondrion (GO:0005739) NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270) endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) GTGGGGGGGCGTAGTGTGGGG 0.522 NA G||| 449 0.0896565 0.0991 0.0432 5008 , , NA 17593 0.1548 NA 0.0328 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083108 CCDS7691.1, CCDS53590.1 11p15.5 2010-06-25 2010-06-25 ENSG00000142082 ENSG00000142082 23410 14931 protein-coding gene gene with protein product 604481 sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3, sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae) NA 10381378, 18215119 Standard NM_012239 NA Approved SIR2L3 uc001lok.4 Q9NTG7 OTTHUMG00000119074 ENST00000382743.4:c.*794C>T chr11.hg19:g.215904G>A NA B7Z5U6|Q9Y6E8 hg19 CCDS7691.1 0.02 6.178605 GGCxTAG COVERED NOVEL SIRT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239288.3 2 12.638542 KEEP 0 0 0 42 1424 GG 1 1 0 - 7 60 248 0 0 15.701077 151 60 5223 250 ENST00000382743.4 0.044304 1 IFITM3 10410 __UNKNOWN__ __UNKNOWN__ 11 320772 320772 __UNKNOWN__ Silent SNP A A G rs12252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:320772A>G ENST00000399808.4 - 1 278 c.42T>C c.(40-42)agT>agC p.S14S IFITM3_ENST00000602735.1_5'UTR|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_5'UTR|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 14 NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) GGGGCTGGCCACTGTTGACAG 0.612 NA N||| 1184 0.236422 0.2602 0.1772 5008 , , NA 16095 0.5278 NA 0.0408 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G 891,3005 102,687,1159 121 138 133 42 -7.3 0 11 dbSNP_52 133 333,7955 5,323,3816 no coding-synonymous IFITM3 NM_021034.2 107,1010,4975 GG,GA,AA 4.0179,22.8696,10.046 14/134 320772 1224,10960 1948 4144 6092 SO:0001819 synonymous_variant X57352 CCDS41585.1 11p15.5 2011-05-24 2011-05-24 ENSG00000142089 ENSG00000142089 10410 5414 protein-coding gene gene with protein product 605579 interferon induced transmembrane protein 3 (1-8U) NA 1906403, 16326387 Standard NM_021034 NM_021034 NA Approved 1-8U uc001lpa.2 Q01628 ENST00000399808.4:c.42T>C chr11.hg19:g.320772A>G NA Q53Y76|Q96HK8|Q96J15 hg19 CCDS41585.1 0.02 6.135404 GCCxCTG COVERED NOVEL IFITM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000384765.1 4 25.265974 KEEP 0 0 0 84 2458 AA 1 1 0 - 12 60 398 0 0 26.932856 151 60 5178 289 ENST00000399808.4 0.07362 1 B4GALNT4 338707 __UNKNOWN__ __UNKNOWN__ 11 376132 376132 __UNKNOWN__ Missense_Mutation SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:376132A>G ENST00000329962.6 + 12 1154 c.1154A>G c.(1153-1155)gAc>gGc p.D385G NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 385 NA metabolic process (GO:0008152) Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021) acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATGGAGACGGACAACAAGTGC 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 33 32 33 NA NA 11 NA 376132 2200 4289 6489 SO:0001583 missense AB089939 CCDS7694.1 11p15.5 2013-02-19 ENSG00000182272 ENSG00000182272 338707 2.4.1.- Beta 4-glycosyltransferases 26315 protein-coding gene gene with protein product NA 15044014 Standard NM_178537 NM_178537 NA Approved FLJ25045, NGalNAc-T1 uc001lpb.3 Q76KP1 OTTHUMG00000119075 ENST00000329962.6:c.1154A>G chr11.hg19:g.376132A>G ENSP00000328277:p.Asp385Gly NA Q96LV2 hg19 CCDS7694.1 0.02 10.55772 CGGxCAA COVERED . . . . . . . . . . a 18.10 3.548883 0.65311 . . ENSG00000182272 ENST00000329962 T 0.73469 -0.75 3.01 3.01 0.34805 . 1.167370 0.06658 N 0.763995 T 0.68458 0.3003 L 0.40543 1.245 0.35331 D 0.785586 B 0.27498 0.18 B 0.24006 0.05 T 0.66069 -0.6015 10 0.66056 D 0.02 -12.2062 12.1716 0.54161 1.0:0.0:0.0:0.0 . 385 Q76KP1 B4GN4_HUMAN G 385 ENSP00000328277:D385G ENSP00000328277:D385G D + 2 0 B4GALNT4 366132 1.000000 0.71417 0.994000 0.49952 0.929000 0.56500 5.510000 0.67018 1.608000 0.50180 0.358000 0.22013 GAC NOVEL B4GALNT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239289.2 5 32.192197 KEEP 0 0 0 107 3271 AA 1 1 0 + 9 60 322 0 0 19.183209 274 60 9670 503 ENST00000329962.6 0.031802 1 PKP3 11187 __UNKNOWN__ __UNKNOWN__ 11 403545 403545 __UNKNOWN__ Intron SNP C C T rs35828848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:403545C>T ENST00000331563.2 + 10 1999 NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 NA NA desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839) breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCAGCGACCCCATTGTGGCA 0.711 NA c||| 2079 0.415136 0.4501 0.2954 5008 , , NA 15238 0.6419 NA 0.2177 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z98265 CCDS7695.1 11p15 2013-02-14 ENSG00000184363 ENSG00000184363 11187 Armadillo repeat containing 9025 protein-coding gene gene with protein product 605561 NA 10374265 Standard NM_007183 XM_005252760 NA Approved uc001lpc.3 Q9Y446 OTTHUMG00000119068 ENST00000331563.2:c.1924-73C>T chr11.hg19:g.403545C>T NA F8J390|Q53EX8 hg19 CCDS7695.1 0.02 2.105469 ACCxCAT COVERED NOVEL PKP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239281.1 1 2.708406 KEEP 0 0 0 9 305 CC 0.99254 0.969578 0 + 5 60 181 0 0 13.210602 50 60 1793 68 ENST00000331563.2 0.090909 0.976865 PKP3 11187 __UNKNOWN__ __UNKNOWN__ 11 403880 403880 __UNKNOWN__ Intron SNP G G C rs10794318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:403880G>C ENST00000331563.2 + 11 2153 NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 NA NA desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337) cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839) breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGGGAGGCAGGGGACCCCAG 0.657 NA g||| 1807 0.360823 0.3517 0.2565 5008 , , NA 17340 0.5813 NA 0.1769 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z98265 CCDS7695.1 11p15 2013-02-14 ENSG00000184363 ENSG00000184363 11187 Armadillo repeat containing 9025 protein-coding gene gene with protein product 605561 NA 10374265 Standard NM_007183 XM_005252760 NA Approved uc001lpc.3 Q9Y446 OTTHUMG00000119068 ENST00000331563.2:c.2078-63G>C chr11.hg19:g.403880G>C NA F8J390|Q53EX8 hg19 CCDS7695.1 0.02 6.096967 GCAxGGG COVERED NOVEL PKP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239281.1 2 6.919435 KEEP 0 0 0 23 782 GG 0.999892 0.999892 0 + 8 60 276 0 0 17.745536 147 60 5334 187 ENST00000331563.2 0.051613 1 SIGIRR 59307 __UNKNOWN__ __UNKNOWN__ 11 406615 406615 __UNKNOWN__ Intron SNP C C T rs10902159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:406615C>T ENST00000431843.2 - 9 1186 SIGIRR_ENST00000397632.3_Intron|SIGIRR_ENST00000332725.3_Intron|SIGIRR_ENST00000382520.2_Intron|SIGIRR_ENST00000531205.1_Intron NM_001135054.1 NP_001128526.1 Q6IA17 SIGIR_HUMAN single immunoglobulin and toll-interleukin 1 receptor (TIR) domain NA NA acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|membrane (GO:0016020) cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) AAGAGCACACCTGCGGCTGCC 0.687 NA c||| 1805 0.360423 0.3343 0.255 5008 , , NA 13542 0.6032 NA 0.1779 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31325.1 11p15.5 2013-01-11 2005-10-10 59307 Immunoglobulin superfamily / Immunoglobulin-like domain containing 30575 protein-coding gene gene with protein product single immunoglobulin domain IL1R1 related 605478 NA 10346978 Standard NM_021805 NM_021805 NA Approved TIR8 uc001lpe.1 Q6IA17 ENST00000431843.2:c.880-77G>A chr11.hg19:g.406615C>T NA Q3KQY2|Q6UXI3|Q9H733 hg19 CCDS31325.1 0.02 -0.324573 CACxTGC COVERED NOVEL SIGIRR-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383884.3 0 4.514688 KEEP 0 0 0 15 527 CC 0.99649 0.832783 0 - 3 60 115 0 0 8.410387 34 60 1221 59 ENST00000431843.2 0.081081 0.835716 LRRC56 115399 __UNKNOWN__ __UNKNOWN__ 11 551753 551753 __UNKNOWN__ Missense_Mutation SNP G G A rs4963198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:551753G>A ENST00000270115.7 + 10 1399 c.899G>A c.(898-900)cGt>cAt p.R300H NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 300 NA R -> H (in dbSNP:rs4963198). kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGCTGGTCCGTGGGGGCCCC 0.657 NA A||| 3242 0.647364 0.4372 0.6369 5008 , , NA 15098 0.873 NA 0.664 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 A HIS/ARG 2042,2352 480,1082,635 27 34 32 899 3.2 0.1 11 dbSNP_111 32 5442,3156 1727,1988,584 yes missense LRRC56 NM_198075.3 29 2207,3070,1219 AA,AG,GG 36.7062,46.4725,42.3953 benign 300/543 551753 7484,5508 2197 4299 6496 SO:0001583 missense CCDS7700.1 11p15.5 2005-10-18 ENSG00000161328 ENSG00000161328 115399 25430 protein-coding gene gene with protein product NA 12477932 Standard NM_198075 NM_198075 NA Approved FLJ00101, DKFZp761L1518 uc010qvz.2 Q8IYG6 OTTHUMG00000132003 ENST00000270115.7:c.899G>A chr11.hg19:g.551753G>A ENSP00000270115:p.Arg300His NA Q8N3Q4 hg19 CCDS7700.1 0.02 15.746823 TCCxTGG COVERED 1392 0.6373626373626373 203 0.41260162601626016 211 0.5828729281767956 473 0.8269230769230769 505 0.6662269129287599 A 5.088 0.201951 0.09652 0.464725 0.632938 ENSG00000161328 ENST00000270115 T 0.09538 2.97 4.14 3.21 0.36854 . 0.313649 0.30003 N 0.010654 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.09997 -1.0649 9 0.15952 T 0.53 -14.9412 6.9955 0.24780 0.203:0.6102:0.1868:0.0 rs4963198;rs17853483;rs17857076;rs58962332 300 Q8IYG6 LRC56_HUMAN H 300 ENSP00000270115:R300H ENSP00000270115:R300H R + 2 0 LRRC56 541753 0.000000 0.05858 0.127000 0.21898 0.023000 0.10783 0.171000 0.16685 0.425000 0.26087 -1.421000 0.01109 CGT NOVEL LRRC56-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254969.1 3 18.860953 KEEP 0 3 98 97 3277 GG 1 1 0 + 17 60 603 0 0 38.205685 367 60 12364 594 ENST00000270115.7 0.044271 1 LRRC56 115399 __UNKNOWN__ __UNKNOWN__ 11 554659 554659 __UNKNOWN__ 3'UTR SNP G G A rs11246184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:554659G>A ENST00000270115.7 + 0 2512 NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 NA NA kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTCCCTTGCCGGCCCCAGGGT 0.716 NA g||| 2380 0.47524 0.208 0.4337 5008 , , NA 12095 0.6399 NA 0.5567 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7700.1 11p15.5 2005-10-18 ENSG00000161328 ENSG00000161328 115399 25430 protein-coding gene gene with protein product NA 12477932 Standard NM_198075 NM_198075 NA Approved FLJ00101, DKFZp761L1518 uc010qvz.2 Q8IYG6 OTTHUMG00000132003 ENST00000270115.7:c.*383G>A chr11.hg19:g.554659G>A NA Q8N3Q4 hg19 CCDS7700.1 0.02 6.417595 GCCxGCC COVERED NOVEL LRRC56-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254969.1 0 23.809301 KEEP 0 1 31 90 3075 GG 1 1 0 + 11 60 409 0 0 27.680203 188 60 6526 367 ENST00000270115.7 0.055276 1 LRRC56 115399 __UNKNOWN__ __UNKNOWN__ 11 554798 554798 __UNKNOWN__ 3'UTR SNP T T C rs12277611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:554798T>C ENST00000270115.7 + 0 2651 NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 NA NA kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGCGGCCCGTTCCCTCCTCTT 0.627 NA t||| 2925 0.584065 0.3185 0.5893 5008 , , NA 11120 0.7698 NA 0.6223 False NA ,,, NA NA NA 2504 0.7086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7700.1 11p15.5 2005-10-18 ENSG00000161328 ENSG00000161328 115399 25430 protein-coding gene gene with protein product NA 12477932 Standard NM_198075 NM_198075 NA Approved FLJ00101, DKFZp761L1518 uc010qvz.2 Q8IYG6 OTTHUMG00000132003 ENST00000270115.7:c.*522T>C chr11.hg19:g.554798T>C NA Q8N3Q4 hg19 CCDS7700.1 0.02 6.328732 CGTxCCC COVERED NOVEL LRRC56-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254969.1 1 14.451925 KEEP 0 2 74 74 2260 TT 1 1 0 + 7 60 260 0 0 16.580652 168 60 5958 319 ENST00000270115.7 0.04 1 C11orf35 0 __UNKNOWN__ __UNKNOWN__ 11 557989 557989 __UNKNOWN__ Silent SNP C C T rs7129811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:557989C>T ENST00000329451.3 - 5 512 c.450G>A c.(448-450)caG>caA p.Q150Q RP11-496I9.1_ENST00000527620.1_RNA NM_173573.2 NP_775844.2 Q8IXW0 LMTD2_HUMAN 150 NA NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCTCCATCTCCTGGAGCGTGC 0.657 NA C||| 2363 0.471845 0.152 0.4366 5008 , , NA 16039 0.6696 NA 0.5746 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 C 958,3446 110,738,1354 27 29 29 450 3.7 0.6 11 dbSNP_116 29 4814,3782 1350,2114,834 no coding-synonymous C11orf35 NM_173573.2 1460,2852,2188 TT,TC,CC 43.9972,21.753,44.4 150/635 557989 5772,7228 2202 4298 6500 SO:0001819 synonymous_variant NA NA NA NA ENST00000329451.3:c.450G>A chr11.hg19:g.557989C>T NA hg19 CCDS7701.1 0.02 4.329586 CTCxTGG COVERED NOVEL C11orf35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254973.2 3 10.70288 KEEP 0 2 58 56 1938 CC 1 1 0 - 7 60 250 0 0 16.254013 134 60 4880 267 ENST00000329451.3 0.049645 1 CDHR5 53841 __UNKNOWN__ __UNKNOWN__ 11 617537 617537 __UNKNOWN__ Silent SNP C C T rs2740380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:617537C>T ENST00000358353.3 - 16 2674 c.2352G>A c.(2350-2352)ccG>ccA p.P784P CDHR5_ENST00000397542.2_Silent_p.P784P|CDHR5_ENST00000349570.7_Silent_p.P590P Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 784 NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 ACCCGCCCTCCGGCCGCCGCT 0.721 NA C||| 2428 0.484824 0.1876 0.4625 5008 , , NA 9843 0.7044 NA 0.5596 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 C ,, 1118,3260 166,786,1237 24 26 25 2334,2352,1770 -7.9 0 11 dbSNP_100 25 4661,3909 1301,2059,925 no coding-synonymous,coding-synonymous,coding-synonymous CDHR5 NM_001171968.1,NM_021924.4,NM_031264.3 ,, 1467,2845,2162 TT,TC,CC 45.6126,25.5368,44.6324 ,, 778/840,784/846,590/652 617537 5779,7169 2189 4285 6474 SO:0001819 synonymous_variant AF258675 CCDS7707.1, CCDS7708.1 11p15.5 2011-07-01 2010-01-25 2010-01-25 ENSG00000099834 ENSG00000099834 53841 Cadherins / Cadherin-related 7521 protein-coding gene gene with protein product 606839 mucin and cadherin-like, mucin-like protocadherin MUCDHL, MUPCDH NA 11031102, 10801787 Standard NM_021924 NM_021924 NA Approved FLJ20219, MU-PCDH uc001lqj.3 Q9HBB8 OTTHUMG00000132018 ENST00000358353.3:c.2352G>A chr11.hg19:g.617537C>T NA C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9 hg19 CCDS7707.1 0.02 4.683152 CTCxGGC COVERED NOVEL CDHR5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255023.2 0 32.017656 KEEP 0 1 33 118 3886 CC 1 1 0 - 10 60 363 0 0 25.567887 126 60 4134 354 ENST00000358353.3 0.073529 1 CDHR5 53841 __UNKNOWN__ __UNKNOWN__ 11 618172 618172 __UNKNOWN__ Intron SNP A A G rs6598008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:618172A>G ENST00000358353.3 - 15 2283 CDHR5_ENST00000397542.2_Intron|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGCATTTCCCATGCCAACCTG 0.627 NA A||| 2473 0.49381 0.2216 0.4625 5008 , , NA 17365 0.7044 NA 0.5596 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF258675 CCDS7707.1, CCDS7708.1 11p15.5 2011-07-01 2010-01-25 2010-01-25 ENSG00000099834 ENSG00000099834 53841 Cadherins / Cadherin-related 7521 protein-coding gene gene with protein product 606839 mucin and cadherin-like, mucin-like protocadherin MUCDHL, MUPCDH NA 11031102, 10801787 Standard NM_021924 NM_021924 NA Approved FLJ20219, MU-PCDH uc001lqj.3 Q9HBB8 OTTHUMG00000132018 ENST00000358353.3:c.1961-61T>C chr11.hg19:g.618172A>G NA C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9 hg19 CCDS7707.1 0.02 6.53047 CCCxTGC COVERED NOVEL CDHR5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255023.2 2 21.963249 KEEP 0 0 0 73 2214 AA 1 1 0 - 6 60 218 0 0 13.692244 146 60 5391 273 ENST00000358353.3 0.039474 1 CDHR5 53841 __UNKNOWN__ __UNKNOWN__ 11 618998 618998 __UNKNOWN__ Missense_Mutation SNP G G A rs2740375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:618998G>A ENST00000358353.3 - 14 1883 c.1561C>T c.(1561-1563)Ccc>Tcc p.P521S CDHR5_ENST00000397542.2_Missense_Mutation_p.P521S|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 521 NA P -> S (in dbSNP:rs2740375). {ECO:0000269|PubMed:11031102, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GCACCCGGGGGCCCCCCGGGT 0.682 NA G||| 2503 0.4998 0.2436 0.4669 5008 , , NA 14947 0.7024 NA 0.5586 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 G SER/PRO,SER/PRO, 1270,3136 412.8+/-336.2 187,896,1120 53 70 64 1543,1561, 1.6 0 11 dbSNP_100 64 4629,3969 578.4+/-390.7 1245,2139,915 yes missense,missense,intron CDHR5 NM_001171968.1,NM_021924.4,NM_031264.3 74,74, 1432,3035,2035 AA,AG,GG 46.1619,28.8243,45.363 benign,benign, 515/840,521/846, 618998 5899,7105 2203 4299 6502 SO:0001583 missense AF258675 CCDS7707.1, CCDS7708.1 11p15.5 2011-07-01 2010-01-25 2010-01-25 ENSG00000099834 ENSG00000099834 53841 Cadherins / Cadherin-related 7521 protein-coding gene gene with protein product 606839 mucin and cadherin-like, mucin-like protocadherin MUCDHL, MUPCDH NA 11031102, 10801787 Standard NM_021924 NM_021924 NA Approved FLJ20219, MU-PCDH uc001lqj.3 Q9HBB8 OTTHUMG00000132018 ENST00000358353.3:c.1561C>T chr11.hg19:g.618998G>A ENSP00000351118:p.Pro521Ser NA C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9 hg19 CCDS7707.1 0.02 7.309947 GGGxCCC COVERED 1118 0.5119047619047619 121 0.2459349593495935 170 0.4696132596685083 406 0.7097902097902098 421 0.5554089709762533 G 8.544 0.873997 0.17395 0.288243 0.538381 ENSG00000099834 ENST00000397542;ENST00000358353 T;T 0.41065 1.01;1.01 3.63 1.56 0.23342 . 0.911619 0.08818 N 0.889226 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;B 0.23891 0.093;0.093 B;B 0.20955 0.032;0.032 T 0.38286 -0.9668 9 0.22109 T 0.4 -11.4476 4.8444 0.13507 0.3383:0.0:0.6617:0.0 rs2740375;rs60576746 515;521 Q9HBB8-4;Q9HBB8 .;CDHR5_HUMAN S 521 ENSP00000380676:P521S;ENSP00000351118:P521S ENSP00000351118:P521S P - 1 0 CDHR5 608998 0.002000 0.14202 0.003000 0.11579 0.009000 0.06853 -0.038000 0.12144 0.255000 0.21593 0.561000 0.74099 CCC NOVEL CDHR5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255023.2 2 24.373603 KEEP 0 0 0 81 2847 GG 1 1 0 - 15 60 479 0 0 31.245994 207 60 7469 403 ENST00000358353.3 0.067568 1 CDHR5 53841 __UNKNOWN__ __UNKNOWN__ 11 619789 619789 __UNKNOWN__ Missense_Mutation SNP T T G rs2246614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:619789T>G ENST00000358353.3 - 11 1393 c.1071A>C c.(1069-1071)agA>agC p.R357S CDHR5_ENST00000397542.2_Missense_Mutation_p.R357S|CDHR5_ENST00000349570.7_Missense_Mutation_p.R357S Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 357 Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}. NA R -> S (in dbSNP:rs2246614). {ECO:0000269|PubMed:11031102, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}. cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CACGATACAGTCTCTGGGGGA 0.697 NA G||| 3055 0.610024 0.4516 0.5389 5008 , , NA 11427 0.7292 NA 0.6581 False NA ,,, NA NA NA 2504 0.7025 NA NA NA NA 0 G SER/ARG,SER/ARG,SER/ARG 1971,2425 462,1047,689 15 18 17 1071,1071,1071 2 0.1 11 dbSNP_100 17 5357,3235 1667,2023,606 yes missense,missense,missense CDHR5 NM_001171968.1,NM_021924.4,NM_031264.3 110,110,110 2129,3070,1295 GG,GT,TT 37.6513,44.8362,43.5787 benign,benign,benign 357/840,357/846,357/652 619789 7328,5660 2198 4296 6494 SO:0001583 missense AF258675 CCDS7707.1, CCDS7708.1 11p15.5 2011-07-01 2010-01-25 2010-01-25 ENSG00000099834 ENSG00000099834 53841 Cadherins / Cadherin-related 7521 protein-coding gene gene with protein product 606839 mucin and cadherin-like, mucin-like protocadherin MUCDHL, MUPCDH NA 11031102, 10801787 Standard NM_021924 NM_021924 NA Approved FLJ20219, MU-PCDH uc001lqj.3 Q9HBB8 OTTHUMG00000132018 ENST00000358353.3:c.1071A>C chr11.hg19:g.619789T>G ENSP00000351118:p.Arg357Ser NA C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9 hg19 CCDS7707.1 0.02 8.689315 CAGxCTC COVERED 1319 0.6039377289377289 207 0.42073170731707316 197 0.5441988950276243 415 0.7255244755244755 500 0.6596306068601583 G 0.016 -1.539153 0.00942 0.448362 0.623487 ENSG00000099834 ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570 T;T;T 0.14022 2.54;2.54;2.54 3.97 1.96 0.26148 Cadherin (2); . . . . T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0 T 0.35051 -0.9804 8 0.02654 T 1 -16.944 2.6031 0.04871 0.1083:0.1856:0.515:0.1912 rs2246614;rs57316793;rs2246614 357;357;350;357;357 Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8 .;.;.;.;CDHR5_HUMAN S 357 ENSP00000380676:R357S;ENSP00000351118:R357S;ENSP00000345726:R357S ENSP00000326527:R357S R - 3 2 CDHR5 609789 0.004000 0.15560 0.091000 0.20842 0.092000 0.18411 0.258000 0.18387 -0.022000 0.13986 -0.648000 0.03929 AGA NOVEL CDHR5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255023.2 5 41.496546 KEEP 0 0 0 138 4242 TT 1 1 0 - 7 60 254 0 0 15.555742 194 60 6688 455 ENST00000358353.3 0.034826 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 740279 740279 __UNKNOWN__ IGR SNP C C T rs10902217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:740279C>T NA NA EPS8L2 (12552 upstream) : TALDO1 (7049 downstream) NA NA NA ttaggccgggcgcggtggctc 0.552 NA c||| 580 0.115815 0.2602 0.0663 5008 , , NA 14439 0.0367 NA 0.0875 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.740279C>T NA hg19 0.02 -0.052639 GGGxGCG UNCOVERED NOVEL 0 4 4.815494 KEEP 2 0 0 16 550 CC 0.995343 0.036594 0 2 60 74 0 0 6.695648 4 60 147 29 0.333333 0.036766 PDDC1 347862 __UNKNOWN__ __UNKNOWN__ 11 767750 767750 __UNKNOWN__ 3'UTR SNP C C T rs11606152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:767750C>T ENST00000319863.8 - 0 3831 PDDC1_ENST00000397472.2_Intron|PDDC1_ENST00000526325.1_Intron NM_182612.2 NP_872418.1 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 NA NA extracellular vesicular exosome (GO:0070062) kidney(1)|lung(3)|urinary_tract(1) 5 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) ccatcaccctcacaaaagagg 0.488 NA T||| 3511 0.701078 0.8933 0.7767 5008 , , NA 18154 0.6419 NA 0.666 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK128653 CCDS7713.1 11p15.5 2005-10-26 ENSG00000177225 ENSG00000177225 347862 26616 protein-coding gene gene with protein product NA Standard NM_182612 XM_005252898 NA Approved FLJ34283 uc001lrc.3 Q8NB37 OTTHUMG00000133315 ENST00000319863.8:c.*3147G>A chr11.hg19:g.767750C>T NA B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0 hg19 CCDS7713.1 0.02 3.619202 CCTxACA COVERED NOVEL PDDC1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258051.2 2 8.417941 KEEP 0 0 0 28 970 CC 0.999997 0.999997 0 - 7 60 224 1 0 13.909344 125 60 4826 208 ENST00000319863.8 0.05303 1 CEND1 51286 __UNKNOWN__ __UNKNOWN__ 11 787679 787679 __UNKNOWN__ 3'UTR SNP G G T rs7946354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:787679G>T ENST00000330106.4 - 0 1073 NM_016564.3 NP_057648.2 Q8N111 CEND_HUMAN cell cycle exit and neuronal differentiation 1 NA NA adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933) integral component of membrane (GO:0016021) prostate(1) 1 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGACCCCCGGGGGGTACGCAA 0.682 NA G||| 2568 0.51278 0.4607 0.6599 5008 , , NA 15311 0.5764 NA 0.5298 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074547 CCDS7714.1 11p15.5 2006-06-14 ENSG00000184524 ENSG00000184524 51286 24153 protein-coding gene gene with protein product 608213 NA 11311134 Standard NM_016564 NM_016564 NA Approved FLJ90066, BM88 uc001lrh.1 Q8N111 OTTHUMG00000133308 ENST00000330106.4:c.*448C>A chr11.hg19:g.787679G>T NA Q9NYM6 hg19 CCDS7714.1 0.02 7.912355 CGGxGGG COVERED NOVEL CEND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257105.1 2 18.429128 KEEP 0 2 62 83 2959 GG 1 1 0 - 7 60 249 0 0 14.471694 236 60 8506 404 ENST00000330106.4 0.028807 1 PNPLA2 57104 __UNKNOWN__ __UNKNOWN__ 11 822622 822622 __UNKNOWN__ Intron SNP A A G rs7942159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:822622A>G ENST00000336615.4 + 5 898 NM_020376.3 NP_065109.1 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 NA NA acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886) triglyceride lipase activity (GO:0004806) breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1) 9 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTCTGCTCCGAGGACTGTGGC 0.627 NA G||| 2216 0.442492 0.4902 0.683 5008 , , NA 15244 0.2817 NA 0.5736 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 G 2270,2130 563.1+/-381.1 599,1072,529 52 49 50 -2.3 0 11 dbSNP_116 50 4999,3599 510.7+/-377.6 1476,2047,776 no intron PNPLA2 NM_020376.3 2075,3119,1305 GG,GA,AA 41.8586,48.4091,44.076 822622 7269,5729 2200 4299 6499 SO:0001627 intron_variant AJ278475 CCDS7718.1 11p15.5 2014-03-14 ENSG00000177666 ENSG00000177666 57104 3.1.1.3 Patatin-like phospholipase domain containing 30802 protein-coding gene gene with protein product 609059 NA 8619474, 16799181, 19029121 Standard NM_020376 NM_020376 NA Approved desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta uc001lrt.3 Q96AD5 OTTHUMG00000133309 ENST00000336615.4:c.696+16A>G chr11.hg19:g.822622A>G NA O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62 hg19 CCDS7718.1 0.02 4.126751 CCGxGGA COVERED NOVEL PNPLA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257106.1 0 8.110589 KEEP 0 0 0 27 760 AA 0.999988 0.999987 0 + 11 60 392 0 0 28.048256 120 70 4244 166 ENST00000336615.4 0.083969 1 AP2A2 161 __UNKNOWN__ __UNKNOWN__ 11 940991 940991 __UNKNOWN__ Intron SNP A A G rs115343106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:940991A>G ENST00000448903.2 + 1 208 AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Intron NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886) lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGCTCTCACGAGGCCCCTTGC 0.612 NA G||| 511 0.102037 0.1725 0.0663 5008 , , NA 19722 0.0198 NA 0.0994 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020706 CCDS44512.1, CCDS73234.1 11p15.5 2008-07-18 ENSG00000183020 ENSG00000183020 161 562 protein-coding gene gene with protein product alpha-adaptin C; Huntingtin interacting protein J, adaptin, alpha B, clathrin-associated/assembly/adaptor protein, large, alpha 2 607242 CLAPA2, ADTAB NA 9700202, 2564002 Standard NM_012305 NM_012305 NA Approved DKFZP564D1864, HYPJ, KIAA0899, HIP9 uc001lst.2 O94973 OTTHUMG00000165627 ENST00000448903.2:c.67+14903A>G chr11.hg19:g.940991A>G NA O75403|Q53ET1|Q96SI8 hg19 CCDS44512.1 0.02 1.637355 ACGxGGC COVERED NOVEL AP2A2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385431.2 0 6.011239 KEEP 0 0 0 20 582 AA 0.999863 0.999802 0 + 6 60 211 0 0 14.191397 91 60 3314 120 ENST00000448903.2 0.061856 0.99994 AP2A2 161 __UNKNOWN__ __UNKNOWN__ 11 985547 985547 __UNKNOWN__ Silent SNP C C T rs10794358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:985547C>T ENST00000448903.2 + 8 1068 c.927C>T c.(925-927)ctC>ctT p.L309L AP2A2_ENST00000534328.1_Silent_p.L309L|AP2A2_ENST00000332231.5_Silent_p.L310L NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 309 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886) lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) ATGCCGTGCTCTTCGAGGCCA 0.577 NA c||| 2309 0.461062 0.3631 0.7147 5008 , , NA 18778 0.2847 NA 0.66 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 C , 1652,2642 330,992,825 92 93 93 930,927 0.7 1 11 dbSNP_120 93 5410,3084 1749,1912,586 yes coding-synonymous,coding-synonymous AP2A2 NM_001242837.1,NM_012305.3 , 2079,2904,1411 TT,TC,CC 36.308,38.4723,44.7764 , 310/941,309/940 985547 7062,5726 2147 4247 6394 SO:0001819 synonymous_variant AB020706 CCDS44512.1, CCDS73234.1 11p15.5 2008-07-18 ENSG00000183020 ENSG00000183020 161 562 protein-coding gene gene with protein product alpha-adaptin C; Huntingtin interacting protein J, adaptin, alpha B, clathrin-associated/assembly/adaptor protein, large, alpha 2 607242 CLAPA2, ADTAB NA 9700202, 2564002 Standard NM_012305 NM_012305 NA Approved DKFZP564D1864, HYPJ, KIAA0899, HIP9 uc001lst.2 O94973 OTTHUMG00000165627 ENST00000448903.2:c.927C>T chr11.hg19:g.985547C>T NA O75403|Q53ET1|Q96SI8 hg19 CCDS44512.1 0.02 12.439526 GCTxTTC COVERED NOVEL AP2A2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385431.2 1 12.607162 KEEP 0 2 60 63 2175 CC 1 1 0 + 9 60 324 0 0 18.920196 309 60 11869 486 ENST00000448903.2 0.028302 1 AP2A2 161 __UNKNOWN__ __UNKNOWN__ 11 992691 992691 __UNKNOWN__ Intron SNP G G T rs10902263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:992691G>T ENST00000448903.2 + 11 1593 AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Intron NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886) lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TCGAGGTATGGCCCGCAGGAT 0.607 NA g||| 2308 0.460863 0.3548 0.7147 5008 , , NA 20375 0.2887 NA 0.662 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 G , 1648,2712 330,988,862 71 71 71 , -0.1 0 11 dbSNP_120 71 5432,3092 1756,1920,586 no intron,intron AP2A2 NM_001242837.1,NM_012305.3 , 2086,2908,1448 TT,TG,GG 36.274,37.7982,45.0481 , , 992691 7080,5804 2180 4262 6442 SO:0001627 intron_variant AB020706 CCDS44512.1, CCDS73234.1 11p15.5 2008-07-18 ENSG00000183020 ENSG00000183020 161 562 protein-coding gene gene with protein product alpha-adaptin C; Huntingtin interacting protein J, adaptin, alpha B, clathrin-associated/assembly/adaptor protein, large, alpha 2 607242 CLAPA2, ADTAB NA 9700202, 2564002 Standard NM_012305 NM_012305 NA Approved DKFZP564D1864, HYPJ, KIAA0899, HIP9 uc001lst.2 O94973 OTTHUMG00000165627 ENST00000448903.2:c.1452+6G>T chr11.hg19:g.992691G>T NA O75403|Q53ET1|Q96SI8 hg19 CCDS44512.1 0.02 3.732202 ATGxCCC COVERED NOVEL AP2A2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385431.2 0 4.213419 KEEP 0 0 0 14 472 GG 0.995343 0.995343 0 + 7 60 248 0 0 16.035041 135 60 4934 172 ENST00000448903.2 0.049296 1 AP2A2 161 __UNKNOWN__ __UNKNOWN__ 11 1003642 1003642 __UNKNOWN__ Intron SNP G G A rs10902265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1003642G>A ENST00000448903.2 + 16 2264 AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_Intron|AP2A2_ENST00000332231.5_Intron NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886) lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TCCTCGTGCTGTGAGTTTTTT 0.448 NA g||| 2036 0.40655 0.2746 0.6571 5008 , , NA 17755 0.2927 NA 0.5686 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020706 CCDS44512.1, CCDS73234.1 11p15.5 2008-07-18 ENSG00000183020 ENSG00000183020 161 562 protein-coding gene gene with protein product alpha-adaptin C; Huntingtin interacting protein J, adaptin, alpha B, clathrin-associated/assembly/adaptor protein, large, alpha 2 607242 CLAPA2, ADTAB NA 9700202, 2564002 Standard NM_012305 NM_012305 NA Approved DKFZP564D1864, HYPJ, KIAA0899, HIP9 uc001lst.2 O94973 OTTHUMG00000165627 ENST00000448903.2:c.2124-80G>A chr11.hg19:g.1003642G>A NA O75403|Q53ET1|Q96SI8 hg19 CCDS44512.1 0.02 6.260562 GCTxTGA COVERED NOVEL AP2A2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385431.2 0 8.427801 KEEP 0 0 0 28 1027 GG 0.999997 0.999997 0 + 7 60 242 0 0 15.071723 153 60 5840 235 ENST00000448903.2 0.04375 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016819 1016819 __UNKNOWN__ Silent SNP G G T rs369828826 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1016819G>T ENST00000421673.2 - 31 6032 c.5982C>A c.(5980-5982)acC>acA p.T1994T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1994 Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTTGGATAGGTAGTGGTGG 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 1471 1465 1467 NA NA 11 NA 1016819 2203 4298 6501 SO:0001819 synonymous_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5982C>A chr11.hg19:g.1016819G>T NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 41.131647 ATAxGTA COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 73 10.558689 KEEP 13 21 619 253 9125 GG 1 1 0 - 49 60 1809 0 0 136.441064 413 60 15267 1410 ENST00000421673.2 0.106061 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1016960 1016960 __UNKNOWN__ Silent SNP G G T rs113980831 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1016960G>T ENST00000421673.2 - 31 5891 c.5841C>A c.(5839-5841)acC>acA p.T1947T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1947 Approximate repeats.|Thr-rich. NA NITPKHTSTGTRTPV -> KITTNPTSIGSSTPM (in Ref. 5; AAA35866). {ECO:0000305}. cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGGGGTTCTGGTGCCTGTAC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 516 536 529 NA NA 11 NA 1016960 2200 4292 6492 SO:0001819 synonymous_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5841C>A chr11.hg19:g.1016960G>T NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 38.550401 TCTxGTG COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 34 7.129666 KEEP 20 12 368 153 5254 GG 1 1 0 - 41 60 1436 0 0 109.047384 296 60 11120 1154 ENST00000421673.2 0.121662 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1017307 1017307 __UNKNOWN__ Missense_Mutation SNP G G A rs372717767 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1017307G>A ENST00000421673.2 - 31 5544 c.5494C>T c.(5494-5496)Cct>Tct p.P1832S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1832 Approximate repeats.|Thr-rich. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGGTGTGAGGGTGTGATGGG 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 G SER/PRO 152,4250 0,152,2049 780 761 767 5494 -1.4 0 11 767 139,8451 0,139,4156 no missense MUC6 NM_005961.2 74 0,291,6205 AA,AG,GG 1.6182,3.453,2.2398 benign 1832/2440 1017307 291,12701 2201 4295 6496 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.5494C>T chr11.hg19:g.1017307G>A ENSP00000406861:p.Pro1832Ser NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 40.671712 GAGxGTG COVERED . . . . . . . . . . G 11.67 1.706398 0.30232 0.03453 0.016182 ENSG00000184956 ENST00000421673 T 0.20200 2.09 3.21 -1.4 0.08968 . . . . . T 0.10035 0.0246 M 0.65975 2.015 0.09310 N 1 P 0.45078 0.85 P 0.51657 0.676 T 0.08868 -1.0701 9 0.35671 T 0.21 . 3.0139 0.06053 0.3177:0.0:0.3661:0.3162 . 1832 Q6W4X9 MUC6_HUMAN S 1832 ENSP00000406861:P1832S ENSP00000406861:P1832S P - 1 0 MUC6 1007307 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -1.644000 0.02002 -0.414000 0.07495 -0.643000 0.03959 CCT NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 32 4.292032 KEEP 19 8 247 101 3567 GG 1 1 0 - 28 60 982 0 0 66.545139 407 60 14852 1156 ENST00000421673.2 0.064368 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1019845 1019845 __UNKNOWN__ Intron SNP T T C rs11246383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1019845T>C ENST00000421673.2 - 29 3859 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCTGCAGGTCCCACACGGT 0.607 NA T||| 444 0.0886581 0.0204 0.1282 5008 , , NA 16560 0.0198 NA 0.1869 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.3808+244A>G chr11.hg19:g.1019845T>C NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 9.133855 AGGxCCC COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 3 7.516709 KEEP 0 0 0 25 694 TT 0.999931 0.999931 0 - 8 60 293 0 0 18.047425 222 60 7357 295 ENST00000421673.2 0.034783 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1020778 1020778 __UNKNOWN__ Intron SNP C C T rs11602663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1020778C>T ENST00000421673.2 - 28 3640 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTAAGCCTCCCCACCCCGTG 0.677 NA c||| 444 0.0886581 0.0204 0.1282 5008 , , NA 15477 0.0198 NA 0.1869 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 151,4041 3,145,1948 64 85 78 1.9 0 11 dbSNP_120 78 1609,6841 152,1305,2768 no intron MUC6 NM_005961.2 155,1450,4716 TT,TC,CC 19.0414,3.6021,13.9218 1020778 1760,10882 2096 4225 6321 SO:0001627 intron_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.3590-44G>A chr11.hg19:g.1020778C>T NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 2.478563 CTCxCCA COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 0 3.611448 KEEP 0 0 0 12 417 CC 0.993634 0.977896 0 - 4 60 144 0 0 9.990221 54 60 1966 87 ENST00000421673.2 0.068966 0.984161 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1027221 1027221 __UNKNOWN__ Intron SNP C C T rs10902271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1027221C>T ENST00000421673.2 - 18 2282 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGTGAGACCCCGGGACCTGGC 0.662 NA c||| 418 0.0834665 0.0174 0.1254 5008 , , NA 12496 0.0198 NA 0.1839 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 131,3681 3,125,1778 39 55 50 -5.4 0 11 dbSNP_120 50 1561,6671 146,1269,2701 no intron MUC6 NM_005961.2 149,1394,4479 TT,TC,CC 18.9626,3.4365,14.0485 1027221 1692,10352 1906 4116 6022 SO:0001627 intron_variant U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.2232-28G>A chr11.hg19:g.1027221C>T NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 19.19446 CCCxGGG COVERED NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 0 22.249062 KEEP 0 0 0 74 2537 CC 1 1 0 - 17 60 597 0 0 36.449119 437 60 15549 662 ENST00000421673.2 0.037445 1 MUC6 4588 __UNKNOWN__ __UNKNOWN__ 11 1027811 1027811 __UNKNOWN__ Missense_Mutation SNP C C T rs7481521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1027811C>T ENST00000421673.2 - 16 1905 c.1855G>A c.(1855-1857)Gtg>Atg p.V619M NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 619 NA V -> M (in Ref. 2; AAQ82434). {ECO:0000305}. cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCTGGTACACGCACCTCTGC 0.662 NA c||| 1988 0.396965 0.2648 0.6527 5008 , , NA 17204 0.3016 NA 0.5666 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 C MET/VAL 1201,3003 186,829,1087 28 34 32 1855 1.7 0.2 11 dbSNP_116 32 4611,3811 1288,2035,888 yes missense MUC6 NM_005961.2 21 1474,2864,1975 TT,TC,CC 45.2505,28.568,46.032 probably-damaging 619/2440 1027811 5812,6814 2102 4211 6313 SO:0001583 missense U97698, AY312160 CCDS44513.1 11p15.5 2008-02-05 2006-03-14 ENSG00000184956 ENSG00000184956 4588 Mucins 7517 protein-coding gene gene with protein product 158374 mucin 6, gastric NA 7680650 Standard XM_290540 NM_005961 NA Approved uc001lsw.2 Q6W4X9 OTTHUMG00000165140 ENST00000421673.2:c.1855G>A chr11.hg19:g.1027811C>T ENSP00000406861:p.Val619Met NA O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1 hg19 CCDS44513.1 0.02 8.910495 ACAxGCA COVERED 965 0.44184981684981683 132 0.2682926829268293 230 0.6353591160220995 182 0.3181818181818182 421 0.5554089709762533 C 5.557 0.287706 0.10513 0.28568 0.547495 ENSG00000184956 ENST00000421673 T 0.79141 -1.24 4.71 1.73 0.24493 Uncharacterised domain, cysteine-rich (2); 0.000000 0.28420 U 0.015419 T 0.00012 0.0000 L 0.55481 1.735 0.30330 P 0.786702 D 0.61697 0.99 P 0.55260 0.772 T 0.50890 -0.8774 9 0.28530 T 0.3 . 7.7901 0.29114 0.0:0.716:0.1338:0.1502 rs7481521;rs61141248;rs7481521 619 Q6W4X9 MUC6_HUMAN M 619 ENSP00000406861:V619M ENSP00000406861:V619M V - 1 0 MUC6 1017811 0.815000 0.29118 0.165000 0.22776 0.166000 0.22503 0.415000 0.21181 0.155000 0.19261 0.484000 0.47621 GTG NOVEL MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382120.2 1 8.424389 KEEP 0 0 0 28 912 CC 0.999997 0.999997 0 - 8 60 303 0 0 19.364652 202 60 6999 290 ENST00000421673.2 0.038095 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1075747 1075747 __UNKNOWN__ Missense_Mutation SNP T T C rs2856111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1075747T>C ENST00000441003.2 + 2 200 c.173T>C c.(172-174)cTc>cCc p.L58P MUC2_ENST00000359061.5_Missense_Mutation_p.L58P NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 58 VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}. NA L -> P (in dbSNP:rs2856111). cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TTCCCCGGCCTCTGCGACTAC 0.647 NA T||| 1359 0.271366 0.4062 0.1052 5008 , , NA 16777 0.4375 NA 0.1362 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 T PRO/LEU 1396,2748 255,886,931 24 29 27 173 3.9 1 11 dbSNP_100 27 1082,7336 79,924,3206 yes missense MUC2 NM_002457.2 98 334,1810,4137 CC,CT,TT 12.8534,33.6873,19.7262 probably-damaging 58/2813 1075747 2478,10084 2072 4209 6281 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.173T>C chr11.hg19:g.1075747T>C ENSP00000415183:p.Leu58Pro NA Q14878 hg19 0.02 19.478387 GCCxCTG COVERED 589 0.2696886446886447 214 0.4349593495934959 33 0.09116022099447514 237 0.4143356643356643 105 0.13852242744063326 T 11.43 1.637716 0.29157 0.336873 0.128534 ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.58210 0.35;0.35 3.94 3.94 0.45596 . 0.806126 0.10627 U 0.652652 T 0.00012 0.0000 M 0.78456 2.415 0.22199 P 0.999297546 D 0.69078 0.997 D 0.75484 0.986 T 0.31447 -0.9943 9 0.46703 T 0.11 . 12.7996 0.57578 0.0:0.0:0.0:1.0 rs2856111;rs60177945;rs2856111 58 E7EUV1 . P 58 ENSP00000415183:L58P;ENSP00000351956:L58P ENSP00000351956:L58P L + 2 0 MUC2 1065747 0.013000 0.17824 0.998000 0.56505 0.622000 0.37654 1.613000 0.36900 1.429000 0.47314 0.459000 0.35465 CTC NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 2 21.363429 KEEP 0 0 0 71 2212 TT 1 1 0 + 21 60 785 0 0 52.48424 392 60 14191 622 ENST00000441003.2 0.050847 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092884 1092884 __UNKNOWN__ Missense_Mutation SNP C C T rs201415503 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1092884C>T ENST00000441003.2 + 30 4730 c.4703C>T c.(4702-4704)aCg>aTg p.T1568M MUC2_ENST00000359061.5_Missense_Mutation_p.T1569M|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1569M(2)|p.T1568M(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCACCACCACGGTGacccca 0.637 NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) large_intestine(2)|skin(2) 129 172 157 NA NA 11 NA 1092884 1964 3669 5633 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4703C>T chr11.hg19:g.1092884C>T ENSP00000415183:p.Thr1568Met NA Q14878 hg19 0.02 23.993007 CCAxGGT COVERED . . . . . . . . . . C 2.409 -0.335727 0.05278 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.14893 2.5;2.47 1.63 0.367 0.16140 . 25.055600 0.00797 U 0.001394 T 0.21841 0.0526 . . . 0.09310 N 1 D 0.76494 0.999 P 0.48425 0.577 T 0.35301 -0.9794 9 0.45353 T 0.12 . 8.9064 0.35526 0.0:0.7681:0.2319:0.0 . 1568 E7EUV1 . M 1568;1569 ENSP00000415183:T1568M;ENSP00000351956:T1569M ENSP00000351956:T1569M T + 2 0 MUC2 1082884 0.000000 0.05858 0.002000 0.10522 0.015000 0.08874 0.878000 0.28126 0.945000 0.37605 0.121000 0.15741 ACG NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 67 34.385362 KEEP 89 14 402 256 8918 CC 1 1 0 + 34 60 1100 0 1 73.654951 427 60 14983 1397 ENST00000441003.2 0.073753 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092909 1092909 __UNKNOWN__ Silent SNP C C T rs111487794 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1092909C>T ENST00000441003.2 + 30 4755 c.4728C>T c.(4726-4728)acC>acT p.T1576T MUC2_ENST00000359061.5_Silent_p.T1577T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) caacacccaccggcacacaga 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 89 132 117 NA NA 11 NA 1092909 1939 3607 5546 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4728C>T chr11.hg19:g.1092909C>T NA Q14878 hg19 0.02 20.103894 CACxGGC COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 49 30.04151 KEEP 104 14 424 249 8458 CC 1 1 0 + 14 48 485 0 0 28.529749 408 60 13827 1266 ENST00000441003.2 0.033175 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1092948 1092948 __UNKNOWN__ Silent SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1092948C>G ENST00000441003.2 + 30 4794 c.4767C>G c.(4765-4767)acC>acG p.T1589T MUC2_ENST00000359061.5_Silent_p.T1590T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1590T(2)|p.T1589T(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) tcaccaccaccactacggtga 0.627 NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - coding silent(4) endometrium(2)|kidney(2) NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4767C>G chr11.hg19:g.1092948C>G NA Q14878 hg19 0.02 16.100247 CACxACT COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 31 31.993072 KEEP 125 10 321 219 7461 CC 1 1 0 + 12 60 392 0 0 22.443143 338 60 12106 1069 ENST00000441003.2 0.034286 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093134 1093134 __UNKNOWN__ Silent SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1093134C>A ENST00000441003.2 + 30 4980 c.4953C>A c.(4951-4953)acC>acA p.T1651T MUC2_ENST00000359061.5_Silent_p.T1618T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) agaccccaaccacgacaccca 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 102 166 144 NA NA 11 NA 1093134 1800 3370 5170 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.4953C>A chr11.hg19:g.1093134C>A NA Q14878 hg19 0.02 8.33291 AACxACG COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 9 9.030531 KEEP 65 3 82 59 2048 CC 1 1 0 + 10 60 291 0 0 18.020224 149 60 5266 441 ENST00000441003.2 0.062893 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093295 1093295 __UNKNOWN__ Missense_Mutation SNP C C T rs200837746|rs200145328 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1093295C>T ENST00000441003.2 + 30 5141 c.5114C>T c.(5113-5115)aCt>aTt p.T1705I MUC2_ENST00000359061.5_Missense_Mutation_p.T1672I|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1705I(1)|p.T1672I(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) accaccaccactacggtgacc 0.642 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) large_intestine(2) 113 161 144 NA NA 11 NA 1093295 1882 3466 5348 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5114C>T chr11.hg19:g.1093295C>T ENSP00000415183:p.Thr1705Ile NA Q14878 hg19 0.02 17.133345 CCAxTAC COVERED . . . . . . . . . . C 0.775 -0.764347 0.02996 . . ENSG00000198788 ENST00000441003;ENST00000359061 T;T 0.11277 3.02;2.79 1.6 -0.698 0.11280 . 0.547305 0.11728 U 0.535177 T 0.05868 0.0153 . . . 0.09310 N 1 B 0.06786 0.001 B 0.01281 0.0 T 0.38457 -0.9660 9 0.34782 T 0.22 . 3.0673 0.06219 0.0:0.5189:0.2842:0.1969 . 1705 E7EUV1 . I 1705;1672 ENSP00000415183:T1705I;ENSP00000351956:T1672I ENSP00000351956:T1672I T + 2 0 MUC2 1083295 0.002000 0.14202 0.001000 0.08648 0.001000 0.01503 0.065000 0.14466 -0.392000 0.07751 -1.238000 0.01547 ACT NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 23 18.231621 KEEP 134 11 301 167 5880 CC 1 1 0 + 24 60 796 1 0 54.306044 293 60 10511 938 ENST00000441003.2 0.07571 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093342 1093342 __UNKNOWN__ Missense_Mutation SNP C C A rs55695633 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1093342C>A ENST00000441003.2 + 30 5188 c.5161C>A c.(5161-5163)Ccg>Acg p.P1721T MUC2_ENST00000333592.6_Missense_Mutation_p.P9T|MUC2_ENST00000359061.5_Missense_Mutation_p.P1688T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) gaccccaaccccgacacccat 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 234 273 260 NA NA 11 NA 1093342 1973 3751 5724 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5161C>A chr11.hg19:g.1093342C>A ENSP00000415183:p.Pro1721Thr NA Q14878 hg19 0.02 19.893917 ACCxCGA COVERED . . . . . . . . . . C 5.758 0.324335 0.10900 . . ENSG00000198788 ENST00000441003;ENST00000359061;ENST00000333592 T;T;T 0.04917 3.53;3.69;3.76 1.4 0.392 0.16288 . 2.679550 0.04278 N 0.343350 T 0.06325 0.0163 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.42832 -0.9428 9 0.87932 D 0 . 6.4437 0.21865 0.291:0.709:0.0:0.0 . 1721 E7EUV1 . T 1721;1688;9 ENSP00000415183:P1721T;ENSP00000351956:P1688T;ENSP00000331373:P9T ENSP00000331373:P9T P + 1 0 MUC2 1083342 0.000000 0.05858 0.001000 0.08648 0.006000 0.05464 -2.316000 0.01123 -0.071000 0.12886 -1.119000 0.02030 CCG NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 34 41.432452 KEEP 101 8 159 195 6641 CC 1 1 0 + 17 48 548 0 0 33.326331 363 60 12280 1133 ENST00000441003.2 0.044737 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093364 1093364 __UNKNOWN__ Missense_Mutation SNP C C G rs113138128 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1093364C>G ENST00000441003.2 + 30 5210 c.5183C>G c.(5182-5184)aCt>aGt p.T1728S MUC2_ENST00000333592.6_Missense_Mutation_p.T16S|MUC2_ENST00000359061.5_Missense_Mutation_p.T1695S|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1695S(2)|p.T1728S(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) tccaccaccactacggtgacc 0.652 NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) large_intestine(2)|haematopoietic_and_lymphoid_tissue(2) 184 230 214 NA NA 11 NA 1093364 1968 3805 5773 SO:0001583 missense L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5183C>G chr11.hg19:g.1093364C>G ENSP00000415183:p.Thr1728Ser NA Q14878 hg19 0.02 20.714747 CCAxTAC COVERED . . . . . . . . . . C 1.152 -0.646415 0.03531 . . ENSG00000198788 ENST00000441003;ENST00000359061;ENST00000333592 T;T;T 0.11604 2.76;2.85;2.86 1.47 -2.95 0.05564 . 0.396535 0.13252 N 0.402004 T 0.03136 0.0092 . . . 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.42207 -0.9465 9 0.06236 T 0.91 . 4.7261 0.12941 0.0:0.4234:0.393:0.1837 . 1728 E7EUV1 . S 1728;1695;16 ENSP00000415183:T1728S;ENSP00000351956:T1695S;ENSP00000331373:T16S ENSP00000331373:T16S T + 2 0 MUC2 1083364 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.577000 0.05847 -0.762000 0.04664 -1.112000 0.02068 ACT NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 43 25.435159 KEEP 117 12 360 211 7330 CC 1 1 0 + 30 60 876 0 1 55.13414 408 60 14642 1209 ENST00000441003.2 0.068493 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1093368 1093368 __UNKNOWN__ Silent SNP G G A rs111440994 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1093368G>A ENST00000441003.2 + 30 5214 c.5187G>A c.(5185-5187)acG>acA p.T1729T MUC2_ENST00000333592.6_Silent_p.T17T|MUC2_ENST00000359061.5_Silent_p.T1696T|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 0 Approximate repeats. NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) p.T1696T(3)|p.T1729T(3) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ccaccactacggtgaccccaa 0.647 NA NA NA NA NA NA NA NA NA NA NA 6 Substitution - coding silent(6) prostate(6) 175 224 207 NA NA 11 NA 1093368 1971 3826 5797 SO:0001819 synonymous_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.5187G>A chr11.hg19:g.1093368G>A NA Q14878 hg19 0.02 21.859942 TACxGTG COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 44 32.648279 KEEP 120 11 304 216 7121 GG 1 1 0 + 32 60 1095 0 0 74.523344 427 60 14691 1235 ENST00000441003.2 0.069717 1 MUC2 4583 __UNKNOWN__ __UNKNOWN__ 11 1097667 1097667 __UNKNOWN__ Intron SNP G G A rs375675648 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1097667G>A ENST00000441003.2 + 36 6808 MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGTCTGCAACGTGGCCTCTCT 0.657 NA g||| 1 0.000199681 0.0 0.0 5008 , , NA 15938 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 55 57 56 NA NA 11 NA 1097667 2145 4249 6394 SO:0001627 intron_variant L21998 11p15.5 2011-01-28 2006-03-14 ENSG00000198788 ENSG00000198788 4583 Mucins 7512 protein-coding gene gene with protein product 158370 mucin 2, intestinal/tracheal NA 15081123 Standard NM_002457 NM_002457 NA Approved uc001lsx.1 Q02817 OTTHUMG00000156800 ENST00000441003.2:c.6782-22G>A chr11.hg19:g.1097667G>A NA Q14878 hg19 0.02 21.8724 AACxTGG COVERED NOVEL MUC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000345894.2 3 9.63026 KEEP 0 0 0 32 1098 GG 0.999997 0.999997 0 + 18 60 655 0 0 40.235716 496 60 17385 678 ENST00000441003.2 0.035019 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1151695 1151695 __UNKNOWN__ Silent SNP C C T rs28737416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1151695C>T ENST00000356191.2 + 1 69 c.69C>T c.(67-69)caC>caT p.H23H P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming 23 NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GCACCCGGCACACAGGTACGG 0.682 NA C||| 1928 0.384984 0.6059 0.3458 5008 , , NA 14722 0.3155 NA 0.1909 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 C 916,798 255,406,196 12 13 13 726 0.8 0.1 11 dbSNP_125 13 733,3237 65,603,1317 no coding-synonymous MUC5AC XM_003403450.1 320,1009,1513 TT,TC,CC 18.4635,46.5578,29.0113 242/1963 1151695 1649,4035 857 1985 2842 SO:0001819 synonymous_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000356191.2:c.69C>T chr11.hg19:g.1151695C>T NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 2.027855 GCAxACA COVERED NOVEL MUC5AC-201 KNOWN basic|appris_candidate protein_coding NA protein_coding 0 5.718618 KEEP 0 0 0 19 675 CC 0.99986 0.999808 0 + 6 60 236 0 0 16.66209 92 60 3508 142 ENST00000356191.2 0.061224 0.999948 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1212895 1212895 __UNKNOWN__ 3'UTR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1212895C>G ENST00000358378.6 + 0 136 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) aacctctggtcctggaactac 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*133C>G chr11.hg19:g.1212895C>G NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 35.865526 GGTxCTG COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 40 34.781534 KEEP 56 23 821 402 14078 CC 1 1 0 + 24 60 834 0 0 57.557495 320 60 11774 1525 ENST00000358378.6 0.069767 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1213119 1213119 __UNKNOWN__ 3'UTR SNP C C T rs200209677 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1213119C>T ENST00000358378.6 + 0 360 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CTCCTACAACCAGCACGACCT 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 119 115 116 NA NA 11 NA 1213119 875 1990 2865 SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*357C>T chr11.hg19:g.1213119C>T NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 35.457218 AACxAGC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 18 12.088137 KEEP 34 10 304 147 5102 CC 1 1 0 + 29 24 965 0 0 66.767685 331 60 12157 1202 ENST00000358378.6 0.080556 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1215580 1215580 __UNKNOWN__ 3'UTR SNP A A G rs1132433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1215580A>G ENST00000358378.6 + 0 1611 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GGGTGATGACAAACGAGGTGG 0.721 NA g||| 2454 0.490016 0.7012 0.4438 5008 , , NA 12777 0.3502 NA 0.4066 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 1095,593 368,359,117 7 7 7 3924 2.8 1 11 dbSNP_86 7 1544,2378 320,904,737 no coding-synonymous MUC5AC XM_003403450.1 688,1263,854 GG,GA,AA 39.3677,35.1303,47.041 1308/1963 1215580 2639,2971 844 1961 2805 SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*1608A>G chr11.hg19:g.1215580A>G NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 9.728339 GACxAAC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 2 15.57764 KEEP 0 1 32 63 1933 AA 1 1 0 + 11 60 380 0 0 22.872059 284 60 10204 442 ENST00000358378.6 0.037288 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1219632 1219632 __UNKNOWN__ Intron SNP G G A rs2075843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1219632G>A ENST00000358378.6 + 13 2784 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) ACTCCGGCCGGGGCCAGGGAC 0.627 NA g||| 1991 0.397564 0.5393 0.3487 5008 , , NA 14146 0.3462 NA 0.2018 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.2784+101G>A chr11.hg19:g.1219632G>A NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 8.999501 CCGxGGC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 2 7.961137 KEEP 0 1 33 38 1337 GG 1 1 0 + 11 60 403 0 0 26.294468 223 60 8237 335 ENST00000358378.6 0.047009 1 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1220599 1220599 __UNKNOWN__ 3'UTR SNP T T C rs28633254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1220599T>C ENST00000358378.6 + 0 3009 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CCCTCCAGCCTGGCGAGACCT 0.672 NA c||| 2531 0.505391 0.6974 0.4452 5008 , , NA 16775 0.3492 NA 0.4076 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 C 1083,603 356,371,116 6 6 6 5322 -9.7 0.1 11 dbSNP_125 6 1546,2368 332,882,743 no coding-synonymous MUC5AC XM_003403450.1 688,1253,859 CC,CT,TT 39.4992,35.7651,46.9464 1774/1963 1220599 2629,2971 843 1957 2800 SO:0001624 3_prime_UTR_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.*3006T>C chr11.hg19:g.1220599T>C NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 2.019175 GCCxGGC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 0 3.911732 KEEP 0 0 0 13 404 TT 0.994391 0.994347 0 + 6 60 222 0 0 15.236583 93 60 3396 135 ENST00000358378.6 0.060606 0.999956 MUC5AC 4586 __UNKNOWN__ __UNKNOWN__ 11 1220796 1220796 __UNKNOWN__ Intron SNP T T C rs28502687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1220796T>C ENST00000358378.6 + 16 3126 P98088 MUC5A_HUMAN mucin 5AC, oligomeric mucus/gel-forming NA NA cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796) extracellular matrix structural constituent (GO:0005201) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) ATCCCTGCAGTGCCAGCAGAC 0.667 NA c||| 2546 0.508387 0.7088 0.4467 5008 , , NA 16155 0.3492 NA 0.4076 False NA ,,, NA NA NA 2504 0.5491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ001402, AJ298317 11p15.5 2007-04-23 2006-03-14 ENSG00000215182 ENSG00000215182 4586 Mucins 7515 protein-coding gene gene with protein product 158373 mucin 5, subtypes A and C, tracheobronchial/gastric NA 7826332, 9588204 Standard XM_001130382 XM_006709945 NA Approved MUC5 uc001lsz.3 P98088 OTTHUMG00000154270 ENST00000358378.6:c.3126+80T>C chr11.hg19:g.1220796T>C NA O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5 hg19 0.02 2.163157 CAGxGCC COVERED NOVEL MUC5AC-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000396096.2 0 3.911777 KEEP 0 0 0 13 403 TT 0.994391 0.994299 0 + 4 60 140 0 0 8.730522 90 60 3181 120 ENST00000358378.6 0.042553 0.999907 MUC5B 727897 __UNKNOWN__ __UNKNOWN__ 11 1262700 1262700 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1262700C>T ENST00000529681.1 + 31 4648 c.4590C>T c.(4588-4590)taC>taT p.Y1530Y MUC5B_ENST00000447027.1_Silent_p.Y1533Y NM_002458.2 NP_002449.2 Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1530 7 X Cys-rich subdomain repeats. NA cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TTGAGTCCTACGATAAGATCA 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 47 54 52 NA NA 11 NA 1262700 2049 4197 6246 SO:0001819 synonymous_variant U95031, AF086604 CCDS44515.1, CCDS44515.2 11p15.5 2007-01-19 2006-03-14 ENSG00000117983 727897 Mucins 7516 protein-coding gene gene with protein product 600770 mucin 5, subtype B, tracheobronchial MUC5 NA 9804771 Standard XM_001126093 NM_002458 NA Approved MG1 uc001lta.3 Q9HC84 ENST00000529681.1:c.4590C>T chr11.hg19:g.1262700C>T NA O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28 hg19 CCDS44515.2 0.02 9.137116 CTAxGAT COVERED NOVEL MUC5B-002 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000390041.2 0 5.718121 KEEP 0 0 0 19 653 CC 0.99986 0.99986 0 + 10 60 369 0 0 24.288369 197 60 6758 257 ENST00000529681.1 0.048309 1 LSP1 4046 __UNKNOWN__ __UNKNOWN__ 11 1874266 1874266 __UNKNOWN__ 5'UTR SNP C C T rs2089909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1874266C>T ENST00000311604.3 + 0 67 NM_002339.2 NP_002330.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 NA NA cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) actin binding (GO:0003779)|signal transducer activity (GO:0004871) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) AAGTGAAACTCGGCTGGGGGT 0.582 NA OREG0003781 type=REGULATORY REGION|Gene=LSP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay C||| 1472 0.29393 0.2791 0.2896 5008 , , NA 15976 0.4643 NA 0.2674 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M33552 CCDS31334.1, CCDS31335.1, CCDS58110.1 11p15.5 2008-02-05 ENSG00000130592 ENSG00000130592 4046 6707 protein-coding gene gene with protein product 153432 NA 2174784 Standard NM_002339 NM_001242932 NA Approved WP34 uc001luj.3 P33241 OTTHUMG00000012252 ENST00000311604.3:c.-109C>T chr11.hg19:g.1874266C>T 599 B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8 hg19 CCDS31334.1 0.02 9.103354 ACTxGGC COVERED NOVEL LSP1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000034045.3 3 16.852227 KEEP 0 0 0 56 1881 CC 1 1 0 + 11 60 397 0 0 25.950841 211 60 7604 345 ENST00000311604.3 0.04955 1 LSP1 4046 __UNKNOWN__ __UNKNOWN__ 11 1874404 1874404 __UNKNOWN__ Silent SNP C C T rs2089910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1874404C>T ENST00000311604.3 + 1 205 c.30C>T c.(28-30)gcC>gcT p.A10A NM_002339.2 NP_002330.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 10 NA cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) actin binding (GO:0003779)|signal transducer activity (GO:0004871) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) ACCCGGGTGCCGAGGAGCGGG 0.657 NA C||| 1462 0.291933 0.2799 0.2795 5008 , , NA 13920 0.4623 NA 0.2654 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 C 1155,3241 375.1+/-321.5 150,855,1193 65 65 65 30 -5.1 0 11 dbSNP_96 65 1971,6619 325.8+/-317.1 236,1499,2560 no coding-synonymous LSP1 NM_002339.2 386,2354,3753 TT,TC,CC 22.9453,26.2739,24.0721 10/340 1874404 3126,9860 2198 4295 6493 SO:0001819 synonymous_variant M33552 CCDS31334.1, CCDS31335.1, CCDS58110.1 11p15.5 2008-02-05 ENSG00000130592 ENSG00000130592 4046 6707 protein-coding gene gene with protein product 153432 NA 2174784 Standard NM_002339 NM_001242932 NA Approved WP34 uc001luj.3 P33241 OTTHUMG00000012252 ENST00000311604.3:c.30C>T chr11.hg19:g.1874404C>T NA B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8 hg19 CCDS31334.1 0.02 6.598705 TGCxGAG COVERED NOVEL LSP1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000034045.3 0 12.93818 KEEP 0 0 0 43 1456 CC 1 1 0 + 7 60 257 0 0 16.426873 160 60 5421 252 ENST00000311604.3 0.041916 1 LSP1 4046 __UNKNOWN__ __UNKNOWN__ 11 1891722 1891722 __UNKNOWN__ Intron SNP C C T rs686722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1891722C>T ENST00000381775.1 + 2 545 LSP1_ENST00000311604.3_Intron|LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000405957.2_Intron NM_001242932.1 NP_001229861.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 NA NA cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935) actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) actin binding (GO:0003779)|signal transducer activity (GO:0004871) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) GTGGCCAGGCCGGGCACCCCA 0.647 NA C||| 1812 0.361821 0.0855 0.5303 5008 , , NA 14774 0.6369 NA 0.3757 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M33552 CCDS31334.1, CCDS31335.1, CCDS58110.1 11p15.5 2008-02-05 ENSG00000130592 ENSG00000130592 4046 6707 protein-coding gene gene with protein product 153432 NA 2174784 Standard NM_002339 NM_001242932 NA Approved WP34 uc001luj.3 P33241 OTTHUMG00000012252 ENST00000381775.1:c.437+3581C>T chr11.hg19:g.1891722C>T NA B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8 hg19 CCDS58110.1 0.02 4.258917 GGCxGGG COVERED 863 0.39514652014652013 50 0.1016260162601626 166 0.4585635359116022 374 0.6538461538461539 273 0.36015831134564646 c 5.595 0.294581 0.10567 . . ENSG00000130592 ENST00000418975 T 0.52983 0.64 2.51 -3.83 0.04269 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.40156 -0.9578 5 0.87932 D 0 . 2.8258 0.05485 0.2177:0.5073:0.1211:0.1539 rs686722;rs12789472 . . . W 12 ENSP00000403460:R12W ENSP00000403460:R12W R + 1 2 LSP1 1848298 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.699000 0.01906 -0.859000 0.04105 -0.500000 0.04577 CGG NOVEL LSP1-001 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000034042.3 0 11.734675 KEEP 0 0 0 39 1285 CC 1 0.999997 0 + 5 60 187 0 0 12.138688 111 60 3706 195 ENST00000381775.1 0.043103 0.999997 TNNT3 7140 __UNKNOWN__ __UNKNOWN__ 11 1947575 1947575 __UNKNOWN__ Intron SNP C C A rs540710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1947575C>A ENST00000381558.1 + 6 346 TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000397301.1_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Intron P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) NA NA ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009) cytosol (GO:0005829)|troponin complex (GO:0005861) calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013) breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CTTGCTCGCTCCCCGCACGCA 0.647 NA C||| 2030 0.405351 0.2716 0.5576 5008 , , NA 16648 0.6111 NA 0.3767 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M21984 CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1 11p15.5 2014-09-17 2005-09-12 ENSG00000130595 ENSG00000130595 7140 11950 protein-coding gene gene with protein product troponin-T3, skeletal, fast 600692 troponin T3, skeletal, fast NA 8172653 Standard NM_006757 NM_001042782 NA Approved AMCD2B, DA2B, FSSV, DKFZp779M2348 uc001lup.4 P45378 OTTHUMG00000012475 ENST00000381558.1:c.68-350C>A chr11.hg19:g.1947575C>A NA A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6 hg19 CCDS41596.1 0.02 10.137754 GCTxCCC COVERED NOVEL TNNT3-004 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000034759.1 1 18.356424 KEEP 0 0 0 61 2075 CC 1 1 0 + 15 60 515 0 0 33.417794 259 60 9651 387 ENST00000381558.1 0.054745 1 TNNT3 7140 __UNKNOWN__ __UNKNOWN__ 11 1947793 1947793 __UNKNOWN__ Intron SNP C C T rs686389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:1947793C>T ENST00000381558.1 + 6 346 TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381548.3_Intron|TNNT3_ENST00000397301.1_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000278317.6_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381561.4_Intron P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) NA NA ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009) cytosol (GO:0005829)|troponin complex (GO:0005861) calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013) breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGAGGGGCCGCGTAACCCTGC 0.652 NA C||| 1959 0.391174 0.3411 0.5202 5008 , , NA 15542 0.5903 NA 0.2823 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 C ,,, 455,929 70,315,307 70 64 66 ,,, -5.1 0 11 dbSNP_83 66 910,2272 131,648,812 no intron,intron,intron,intron TNNT3 NM_001042780.2,NM_001042781.2,NM_001042782.2,NM_006757.3 ,,, 201,963,1119 TT,TC,CC 28.5984,32.8757,29.8949 ,,, ,,, 1947793 1365,3201 692 1591 2283 SO:0001627 intron_variant M21984 CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1 11p15.5 2014-09-17 2005-09-12 ENSG00000130595 ENSG00000130595 7140 11950 protein-coding gene gene with protein product troponin-T3, skeletal, fast 600692 troponin T3, skeletal, fast NA 8172653 Standard NM_006757 NM_001042782 NA Approved AMCD2B, DA2B, FSSV, DKFZp779M2348 uc001lup.4 P45378 OTTHUMG00000012475 ENST00000381558.1:c.68-132C>T chr11.hg19:g.1947793C>T NA A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6 hg19 CCDS41596.1 0.02 8.215659 CCGxGTA COVERED NOVEL TNNT3-004 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000034759.1 2 15.948086 KEEP 0 0 0 53 1754 CC 1 1 0 + 8 60 283 0 0 17.189577 213 60 6959 296 ENST00000381558.1 0.036199 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 2017713 2017713 __UNKNOWN__ IGR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:2017713T>G NA NA AC051649.6 (3014 upstream) : H19 (266 downstream) NA NA NA GAGGGGCGGGTGGGGGCTGAG 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.2017713T>G NA hg19 0.02 -0.174805 GGGxGGG COVERED NOVEL 0 0 3.304534 KEEP 0 0 0 11 281 TT 0.993072 0.384723 0 4 60 100 0 0 7.586248 16 60 483 36 0.2 0.387407 SLC22A18 5002 __UNKNOWN__ __UNKNOWN__ 11 2929552 2929552 __UNKNOWN__ Silent SNP A A G rs429886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:2929552A>G ENST00000380574.1 + 3 665 c.234A>G c.(232-234)gtA>gtG p.V78V SLC22A18_ENST00000449793.2_Silent_p.V78V|SLC22A18_ENST00000312221.5_Silent_p.V78V|SLC22A18_ENST00000347936.2_Silent_p.V78V Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 78 NA drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) GCGGGCCGGTATTTGGCAGGT 0.622 NA G||| 3759 0.750599 0.7179 0.6902 5008 , , NA 15841 0.8006 NA 0.7416 False NA ,,, NA NA NA 2504 0.7955 NA NA NA NA 0 G , 3292,1112 396.5+/-330.1 1231,830,141 72 69 70 234,234 -0.2 0.1 11 dbSNP_80 70 6236,2362 392.0+/-343.8 2251,1734,314 no coding-synonymous,coding-synonymous SLC22A18 NM_002555.5,NM_183233.2 , 3482,2564,455 GG,GA,AA 27.4715,25.2498,26.719 , 78/425,78/425 2929552 9528,3474 2202 4299 6501 SO:0001819 synonymous_variant AF028738 CCDS7740.1 11p15.5 2013-05-22 2008-01-11 2004-01-21 ENSG00000110628 ENSG00000110628 5002 Solute carriers 10964 protein-coding gene gene with protein product 602631 solute carrier family 22 (organic cation transporter), member 1-like ORCTL2, BWSCR1A, IMPT1, SLC22A1L NA 9499412, 9520460 Standard NM_183233 NM_183233 NA Approved BWR1A, TSSC5, ITM uc001lwx.3 Q96BI1 OTTHUMG00000010037 ENST00000380574.1:c.234A>G chr11.hg19:g.2929552A>G NA O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7 hg19 CCDS7740.1 0.02 4.139647 GGTxTTT COVERED NOVEL SLC22A18-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027770.1 0 13.060377 KEEP 0 1 36 56 1609 AA 1 1 0 + 5 60 177 0 0 10.710858 136 60 4729 247 ENST00000380574.1 0.035461 1 SLC22A18 5002 __UNKNOWN__ __UNKNOWN__ 11 2939161 2939161 __UNKNOWN__ Intron SNP G G A rs67709661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:2939161G>A ENST00000380574.1 + 7 1086 SLC22A18_ENST00000441077.1_Intron|SLC22A18_ENST00000449793.2_Intron|SLC22A18_ENST00000312221.5_Intron|SLC22A18_ENST00000347936.2_Intron Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 NA NA drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) GCAGCCGGGCGAGGGGTGGGC 0.667 NA G||| 1051 0.209864 0.0076 0.1715 5008 , , NA 17747 0.626 NA 0.0746 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF028738 CCDS7740.1 11p15.5 2013-05-22 2008-01-11 2004-01-21 ENSG00000110628 ENSG00000110628 5002 Solute carriers 10964 protein-coding gene gene with protein product 602631 solute carrier family 22 (organic cation transporter), member 1-like ORCTL2, BWSCR1A, IMPT1, SLC22A1L NA 9499412, 9520460 Standard NM_183233 NM_183233 NA Approved BWR1A, TSSC5, ITM uc001lwx.3 Q96BI1 OTTHUMG00000010037 ENST00000380574.1:c.656-57G>A chr11.hg19:g.2939161G>A NA O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7 hg19 CCDS7740.1 0.02 4.662961 GGCxAGG COVERED NOVEL SLC22A18-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000027770.1 3 5.053886 KEEP 0 0 0 17 531 GG 0.999366 0.999348 0 + 5 60 182 0 0 11.882841 99 60 3157 125 ENST00000380574.1 0.048077 0.999981 NAP1L4 4676 __UNKNOWN__ __UNKNOWN__ 11 2977022 2977022 __UNKNOWN__ Intron SNP T T A rs188086549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:2977022T>A ENST00000380542.4 - 11 1033 NAP1L4_ENST00000526115.1_Intron NM_005969.3 NP_005960.1 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 NA NA nucleosome assembly (GO:0006334) cytoplasm (GO:0005737)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082) endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) ACAAAACATATTTAAATTACA 0.378 NA T||| 3 0.000599042 0.0 0.0 5008 , , NA 20916 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 67 60 62 NA NA 11 NA 2977022 1833 4089 5922 SO:0001627 intron_variant AA573896, BC022090, U77456 CCDS41599.1 11p15.5 2007-12-06 ENSG00000205531 ENSG00000205531 4676 7640 protein-coding gene gene with protein product 601651 NA 8923002 Standard NM_005969 NM_005969 NA Approved NAP2 uc001lxc.3 Q99733 OTTHUMG00000011009 ENST00000380542.4:c.893-26A>T chr11.hg19:g.2977022T>A NA B2R6J4|F5HFY4 hg19 CCDS41599.1 0.02 10.758077 ATAxTTA COVERED NOVEL NAP1L4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000030273.3 3 23.168655 KEEP 0 0 0 77 2446 TT 1 1 0 - 11 60 408 0 0 25.878868 271 60 9904 472 ENST00000380542.4 0.039007 1 OSBPL5 114879 __UNKNOWN__ __UNKNOWN__ 11 3128774 3128774 __UNKNOWN__ Intron SNP T T C rs3741353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:3128774T>C ENST00000263650.7 - 9 1026 OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000389989.3_Intron|OSBPL5_ENST00000348039.5_Intron|OSBPL5_ENST00000525498.1_Intron NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 NA NA cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) tgctccgcacttcacatacgt 0.617 NA T||| 2037 0.406749 0.0265 0.549 5008 , , NA 17609 0.7827 NA 0.4354 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF392453 CCDS31343.1, CCDS31344.1 11p15.4 2013-01-10 ENSG00000021762 ENSG00000021762 114879 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 16392 protein-coding gene gene with protein product 606733 NA Standard NM_145638 NA Approved KIAA1534, ORP5 uc001lxk.2 Q9H0X9 OTTHUMG00000011702 ENST00000263650.7:c.867-89A>G chr11.hg19:g.3128774T>C NA A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4 hg19 CCDS31344.1 0.02 4.529789 CACxTCA COVERED NOVEL OSBPL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000032332.2 1 5.116349 KEEP 0 0 0 17 573 TT 0.999366 0.999366 0 - 8 60 311 0 0 21.578639 133 60 4605 165 ENST00000263650.7 0.056738 1 RP13-726E6.2 0 __UNKNOWN__ __UNKNOWN__ 11 3569010 3569010 __UNKNOWN__ RNA SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:3569010C>G ENST00000527970.1 - 0 285 NA NA NA AGTCTCTTGCCTCTCAAGCAC 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000527970.1: chr11.hg19:g.3569010C>G NA hg19 0.02 1.900442 TGCxTCT COVERED NOVEL RP13-726E6.2-002 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000392273.1 1 4.51476 KEEP 6 0 0 15 539 CC 0.99649 0.991591 0 - 5 27 183 0 0 12.963403 62 60 2334 117 ENST00000527970.1 0.074627 0.995084 RRM1 6240 __UNKNOWN__ __UNKNOWN__ 11 4141132 4141132 __UNKNOWN__ Silent SNP C C A rs183484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4141132C>A ENST00000300738.5 + 9 1054 c.850C>A c.(850-852)Cga>Aga p.R284R RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000423050.2_Silent_p.R187R|RRM1_ENST00000534285.1_Silent_p.R62R NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 284 NA cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) CAACACAGCTCGATATGTGGA 0.403 NA C||| 1618 0.323083 0.0227 0.4366 5008 , , NA 17753 0.378 NA 0.5229 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768) NA 0 C 464,3938 220.0+/-237.6 25,414,1762 150 137 141 850 5.7 1 11 dbSNP_79 141 4586,4010 599.3+/-394.1 1205,2176,917 no coding-synonymous RRM1 NM_001033.3 1230,2590,2679 AA,AC,CC 46.6496,10.5407,38.8521 284/793 4141132 5050,7948 2201 4298 6499 SO:0001819 synonymous_variant X59543 CCDS7750.1 11p15.5 2009-07-10 2008-03-11 ENSG00000167325 ENSG00000167325 6240 1.17.14.1 10451 protein-coding gene gene with protein product 180410 ribonucleotide reductase M1 polypeptide NA 7557993 Standard NM_001033 NM_001033 NA Approved uc001lyw.4 P23921 OTTHUMG00000133361 ENST00000300738.5:c.850C>A chr11.hg19:g.4141132C>A NA Q9UNN2 hg19 CCDS7750.1 0.02 5.745455 GCTxGAT COVERED NOVEL RRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257197.1 1 12.339274 KEEP 0 0 0 41 1380 CC 1 1 0 + 6 60 210 0 0 12.222056 190 60 6916 306 ENST00000300738.5 0.030612 1 RRM1 6240 __UNKNOWN__ __UNKNOWN__ 11 4159457 4159457 __UNKNOWN__ Silent SNP A A G rs9937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4159457A>G ENST00000300738.5 + 19 2427 c.2223A>G c.(2221-2223)acA>acG p.T741T RRM1_ENST00000537197.1_Silent_p.T403T|RRM1_ENST00000423050.2_Silent_p.T644T|RRM1_ENST00000534285.1_Silent_p.T519T|RRM1-AS1_ENST00000529323.1_RNA NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 741 NA cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) ATTTAAGGACAAGACCAGCGG 0.373 NA A||| 1726 0.344649 0.0953 0.4424 5008 , , NA 15831 0.3819 NA 0.5239 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768) NA 0 A 733,3669 299.6+/-285.9 48,637,1516 65 66 66 2223 3 1 11 dbSNP_52 66 4612,3984 600.6+/-394.2 1226,2160,912 no coding-synonymous RRM1 NM_001033.3 1274,2797,2428 GG,GA,AA 46.3471,16.6515,41.1217 741/793 4159457 5345,7653 2201 4298 6499 SO:0001819 synonymous_variant X59543 CCDS7750.1 11p15.5 2009-07-10 2008-03-11 ENSG00000167325 ENSG00000167325 6240 1.17.14.1 10451 protein-coding gene gene with protein product 180410 ribonucleotide reductase M1 polypeptide NA 7557993 Standard NM_001033 NM_001033 NA Approved uc001lyw.4 P23921 OTTHUMG00000133361 ENST00000300738.5:c.2223A>G chr11.hg19:g.4159457A>G NA Q9UNN2 hg19 CCDS7750.1 0.02 6.493061 GACxAGA COVERED NOVEL RRM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257197.1 5 6.31947 KEEP 0 0 0 21 672 AA 0.999869 0.999869 0 + 10 60 350 0 0 23.031444 169 60 6229 221 ENST00000300738.5 0.055866 1 OR52K1 390036 __UNKNOWN__ __UNKNOWN__ 11 4510285 4510285 __UNKNOWN__ Missense_Mutation SNP A A G rs96489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4510285A>G ENST00000307632.3 + 1 177 c.155A>G c.(154-156)cAg>cGg p.Q52R NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 52 NA Q -> R (in dbSNP:rs96489). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.Q52R(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TTCATTATCCAGGCTGATGCA 0.502 NA G||| 1923 0.383986 0.5477 0.2161 5008 , , NA 21614 0.3194 NA 0.2952 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ARG/GLN 2220,2182 584.5+/-386.0 552,1116,533 168 157 161 155 -1.9 0 11 dbSNP_79 161 2544,6052 692.0+/-404.6 392,1760,2146 yes missense OR52K1 NM_001005171.2 43 944,2876,2679 GG,GA,AA 29.5952,49.5684,36.6518 benign 52/315 4510285 4764,8234 2201 4298 6499 SO:0001583 missense AB065790 CCDS31352.1 11p15.4 2012-08-09 ENSG00000196778 ENSG00000196778 390036 GPCR / Class A : Olfactory receptors 15222 protein-coding gene gene with protein product NA Standard NM_001005171 NM_001005171 NA Approved uc001lza.2 Q8NGK4 OTTHUMG00000165705 ENST00000307632.3:c.155A>G chr11.hg19:g.4510285A>G ENSP00000302422:p.Gln52Arg NA B9EH54|Q6IFK5 hg19 CCDS31352.1 0.02 12.249786 TCCxGGC COVERED 773 0.35393772893772896 270 0.5487804878048781 96 0.26519337016574585 200 0.34965034965034963 207 0.27308707124010556 G 0.001 -3.197733 0.00025 0.504316 0.295952 ENSG00000196778 ENST00000307632 T 0.02944 4.1 3.59 -1.92 0.07618 GPCR, rhodopsin-like superfamily (1); 1.211190 0.06110 N 0.666991 T 0.00012 0.0000 N 0.01219 -0.95 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.37641 -0.9697 9 0.06365 T 0.9 . 7.2622 0.26209 0.6431:0.0:0.2236:0.1332 rs96489;rs865224;rs2004596;rs16913225;rs56631972;rs60402006;rs96489 52 Q8NGK4 O52K1_HUMAN R 52 ENSP00000302422:Q52R ENSP00000302422:Q52R Q + 2 0 OR52K1 4466861 0.000000 0.05858 0.000000 0.03702 0.079000 0.17450 -6.840000 0.00052 -0.754000 0.04715 -1.221000 0.01599 CAG NOVEL OR52K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385846.1 1 12.938549 KEEP 0 0 0 43 1345 AA 1 1 0 + 10 60 361 0 0 21.599093 307 60 11363 409 ENST00000307632.3 0.031546 1 OR52K1 390036 __UNKNOWN__ __UNKNOWN__ 11 4510587 4510587 __UNKNOWN__ Missense_Mutation SNP C C T rs331510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4510587C>T ENST00000307632.3 + 1 479 c.457C>T c.(457-459)Cgg>Tgg p.R153W NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 153 NA R -> W (in dbSNP:rs331510). {ECO:0000269|PubMed:14983052, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TGCTGTGGCCCGGGCTGTGAC 0.572 NA C||| 1105 0.220647 0.115 0.1441 5008 , , NA 19921 0.2282 NA 0.2416 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 C TRP/ARG 575,3827 255.5+/-260.7 32,511,1658 98 84 89 457 2.2 0.1 11 dbSNP_79 89 1976,6620 346.3+/-326.1 234,1508,2556 no missense OR52K1 NM_001005171.2 101 266,2019,4214 TT,TC,CC 22.9874,13.0622,19.6261 benign 153/315 4510587 2551,10447 2201 4298 6499 SO:0001583 missense AB065790 CCDS31352.1 11p15.4 2012-08-09 ENSG00000196778 ENSG00000196778 390036 GPCR / Class A : Olfactory receptors 15222 protein-coding gene gene with protein product NA Standard NM_001005171 NM_001005171 NA Approved uc001lza.2 Q8NGK4 OTTHUMG00000165705 ENST00000307632.3:c.457C>T chr11.hg19:g.4510587C>T ENSP00000302422:p.Arg153Trp NA B9EH54|Q6IFK5 hg19 CCDS31352.1 0.02 10.915759 GCCxGGG COVERED 434 0.1987179487179487 55 0.11178861788617886 69 0.19060773480662985 144 0.2517482517482518 166 0.21899736147757257 C 5.539 0.284441 0.10513 0.130622 0.229874 ENSG00000196778 ENST00000307632 T 0.00030 8.9 4.07 2.18 0.27775 GPCR, rhodopsin-like superfamily (1); 0.000000 0.41097 D 0.000957 T 0.00012 0.0000 M 0.82056 2.57 0.80722 P 0.0 B 0.22276 0.067 B 0.21360 0.034 T 0.32561 -0.9902 9 0.72032 D 0.01 . 7.9006 0.29731 0.1611:0.7509:0.0:0.0881 rs331510;rs12420202;rs331510 153 Q8NGK4 O52K1_HUMAN W 153 ENSP00000302422:R153W ENSP00000302422:R153W R + 1 2 OR52K1 4467163 0.000000 0.05858 0.052000 0.19188 0.132000 0.20833 -2.560000 0.00921 0.661000 0.30985 -0.426000 0.05927 CGG NOVEL OR52K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385846.1 4 9.330158 KEEP 0 0 0 31 1077 CC 0.999997 0.999997 0 + 9 60 342 0 0 20.959103 290 60 10284 398 ENST00000307632.3 0.0301 1 OR51S1 119692 __UNKNOWN__ __UNKNOWN__ 11 4869649 4869649 __UNKNOWN__ Missense_Mutation SNP G G A rs12361955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4869649G>A ENST00000322101.2 - 1 865 c.790C>T c.(790-792)Ctc>Ttc p.L264F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 264 NA L -> F (in dbSNP:rs12361955). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTGCCAGGAGGATCATAGGG 0.498 NA G||| 1499 0.299321 0.3411 0.2608 5008 , , NA 19746 0.0675 NA 0.4046 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 G PHE/LEU 1535,2867 485.3+/-360.3 273,989,939 112 96 102 790 3.3 1 11 dbSNP_120 102 3700,4896 528.7+/-381.4 805,2090,1403 yes missense OR51S1 NM_001004758.1 22 1078,3079,2342 AA,AG,GG 43.0433,34.8705,40.2754 benign 264/324 4869649 5235,7763 2201 4298 6499 SO:0001583 missense AB065796 CCDS31362.1 11p15.4 2012-08-09 ENSG00000176922 ENSG00000176922 119692 GPCR / Class A : Olfactory receptors 15204 protein-coding gene gene with protein product NA Standard NM_001004758 NM_001004758 NA Approved uc010qyo.2 Q8NGJ8 OTTHUMG00000066506 ENST00000322101.2:c.790C>T chr11.hg19:g.4869649G>A ENSP00000322754:p.Leu264Phe NA B9EGZ1|Q6IFI2 hg19 CCDS31362.1 0.02 13.391674 GGAxGAT COVERED 621 0.28434065934065933 168 0.34146341463414637 120 0.3314917127071823 32 0.055944055944055944 301 0.3970976253298153 G 8.217 0.801715 0.16397 0.348705 0.430433 ENSG00000176922 ENST00000322101 T 0.73363 -0.74 5.25 3.29 0.37713 GPCR, rhodopsin-like superfamily (1); 0.176237 0.27469 N 0.019222 T 0.00012 0.0000 N 0.04746 -0.17 0.58432 P 1.0000000000287557E-6 B 0.10296 0.003 B 0.12156 0.007 T 0.31668 -0.9935 9 0.87932 D 0 -11.6636 8.9594 0.35838 0.0843:0.295:0.6207:0.0 rs12361955;rs58301091;rs12361955 264 Q8NGJ8 O51S1_HUMAN F 264 ENSP00000322754:L264F ENSP00000322754:L264F L - 1 0 OR51S1 4826225 0.000000 0.05858 1.000000 0.80357 0.400000 0.30750 0.704000 0.25661 1.445000 0.47624 0.655000 0.94253 CTC NOVEL OR51S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142179.1 1 8.1261 KEEP 0 0 0 27 957 GG 0.999988 0.999988 0 - 13 60 489 0 0 31.047731 333 60 12216 441 ENST00000322101.2 0.037572 1 OR51H1P 401663 __UNKNOWN__ __UNKNOWN__ 11 4880892 4880892 __UNKNOWN__ Silent SNP T T C rs11034368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4880892T>C ENST00000322059.1 - 1 902 c.903A>G c.(901-903)caA>caG p.Q301Q MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron Q8NH63 O51H1_HUMAN olfactory receptor, family 51, subfamily H, member 1 pseudogene 301 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) lung(1) 1 TTCTTCAAATTTGCTTGGTCT 0.423 NA C||| 1409 0.28135 0.2451 0.2594 5008 , , NA 20858 0.0774 NA 0.4175 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 11p15.4 2013-09-24 2004-03-10 ENSG00000176904 ENSG00000176904 401663 GPCR / Class A : Olfactory receptors 14833 pseudogene pseudogene OR51H1 NA Standard NG_004388 NA Approved Q8NH63 OTTHUMG00000066512 ENST00000322059.1:c.903A>G chr11.hg19:g.4880892T>C NA Q6IFI3 hg19 0.02 24.404411 AATxTGC COVERED NOVEL OR51H1P-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000142185.1 2 11.369919 KEEP 0 1 38 51 1601 TT 1 1 0 - 16 60 622 0 0 38.802615 505 60 18299 714 ENST00000322059.1 0.03071 1 OR51A7 119687 __UNKNOWN__ __UNKNOWN__ 11 4928866 4928866 __UNKNOWN__ Silent SNP C C T rs7941509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4928866C>T ENST00000359350.4 + 1 267 c.267C>T c.(265-267)gcC>gcT p.A89A MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 89 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTTCAATGCCATGGGAATTT 0.453 NA C||| 1995 0.398363 0.2625 0.3919 5008 , , NA 21957 0.0804 NA 0.6143 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 C 1333,3069 445.7+/-347.8 197,939,1065 153 131 138 267 -2.3 0.2 11 dbSNP_116 138 5302,3294 646.7+/-400.3 1637,2028,633 no coding-synonymous OR51A7 NM_001004749.1 1834,2967,1698 TT,TC,CC 38.3201,30.2817,48.9537 89/313 4928866 6635,6363 2201 4298 6499 SO:0001819 synonymous_variant AB065525 CCDS31364.1 11p15.4 2012-08-09 ENSG00000176895 ENSG00000176895 119687 GPCR / Class A : Olfactory receptors 15188 protein-coding gene gene with protein product NA Standard NM_001004749 NM_001004749 NA Approved uc010qyq.2 Q8NH64 OTTHUMG00000066502 ENST00000359350.4:c.267C>T chr11.hg19:g.4928866C>T NA Q6IFH8 hg19 CCDS31364.1 0.02 17.504477 TGCxATG COVERED NOVEL OR51A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142175.1 1 12.038453 KEEP 0 0 0 40 1371 CC 1 1 0 + 13 60 484 0 0 29.2628 420 60 15599 553 ENST00000359350.4 0.030023 1 OR51A2 401667 __UNKNOWN__ __UNKNOWN__ 11 4976447 4976447 __UNKNOWN__ Missense_Mutation SNP C C G rs77497717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:4976447C>G ENST00000380371.1 - 1 496 c.497G>C c.(496-498)aGa>aCa p.R166T MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 166 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCAAGCTTCTTAAAGTGAA 0.418 NA C||| 435 0.086861 0.112 0.0865 5008 , , NA 14020 0.0069 NA 0.1243 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 THR/ARG 642,3510 222,198,1656 152 132 139 497 -0.6 0 11 dbSNP_131 139 1811,6107 680,451,2828 no missense OR51A2 NM_001004748.1 71 902,649,4484 GG,GC,CC 22.8719,15.4624,20.3231 possibly-damaging 166/314 4976447 2453,9617 2076 3959 6035 SO:0001583 missense AB065797 CCDS31368.1 11p15.4 2012-08-09 ENSG00000205496 ENSG00000205496 401667 GPCR / Class A : Olfactory receptors 14764 protein-coding gene gene with protein product NA Standard NM_001004748 NM_001004748 NA Approved uc010qyt.2 Q8NGJ7 OTTHUMG00000066602 ENST00000380371.1:c.497G>C chr11.hg19:g.4976447C>G ENSP00000369729:p.Arg166Thr NA hg19 CCDS31368.1 0.02 26.322239 CTTxTTA COVERED 213 0.09752747252747253 40 0.08130081300813008 46 0.1270718232044199 3 0.005244755244755245 124 0.16358839050131926 - 7.414 0.635312 0.14322 0.154624 0.228719 ENSG00000205496 ENST00000380371 T 0.71817 -0.6 3.13 -0.611 0.11601 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00039 0.0001 L 0.45051 1.395 0.80722 P 0.0 B 0.23249 0.082 B 0.24701 0.055 T 0.09400 -1.0676 8 0.66056 D 0.02 . 7.4986 0.27505 0.0:0.3281:0.0:0.6719 . 166 Q8NGJ7 O51A2_HUMAN T 166 ENSP00000369729:R166T ENSP00000369729:R166T R - 2 0 OR51A2 4933023 0.000000 0.05858 0.007000 0.13788 0.007000 0.05969 -2.709000 0.00819 0.017000 0.15025 -0.512000 0.04463 AGA NOVEL OR51A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142809.1 3 15.049339 KEEP 5 0 0 50 1802 CC 1 1 0 - 19 49 727 0 0 45.423299 567 50 21465 767 ENST00000380371.1 0.032423 1 OR52A4 390053 __UNKNOWN__ __UNKNOWN__ 11 5142671 5142671 __UNKNOWN__ RNA SNP A A G rs7944388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5142671A>G ENST00000498233.1 - 0 727 A6NMU1 O52A4_HUMAN olfactory receptor, family 52, subfamily A, member 4 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AAAGTAGAGAATTTCCAATCA 0.433 NA A||| 409 0.0816693 0.1475 0.0432 5008 , , NA 18811 0.0893 NA 0.0736 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 A 484,3918 224.3+/-240.5 28,428,1745 100 101 101 2.9 0.9 11 dbSNP_116 101 567,8029 154.0+/-208.3 19,529,3750 no intergenic 47,957,5495 GG,GA,AA 6.5961,10.995,8.0859 5142671 1051,11947 2201 4298 6499 11p15.4 2012-10-03 2012-10-03 2012-10-03 ENSG00000205494 ENSG00000205494 390053 GPCR / Class A : Olfactory receptors 19579 pseudogene pseudogene NA Standard NG_029079 NG_029079 NA Approved A6NMU1 OTTHUMG00000066610 ENST00000498233.1: chr11.hg19:g.5142671A>G NA hg19 0.02 17.255508 AGAxTTT COVERED NOVEL OR52A4-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000268565.1 1 9.594768 KEEP 0 0 0 32 993 AA 0.999997 0.999997 0 - 14 60 511 0 0 30.714499 436 60 15761 542 ENST00000498233.1 0.031111 1 OR51B4 79339 __UNKNOWN__ __UNKNOWN__ 11 5322249 5322249 __UNKNOWN__ Missense_Mutation SNP C C G rs114544023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5322249C>G ENST00000380224.1 - 1 977 c.928G>C c.(928-930)Gct>Cct p.A310P HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 310 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGCTCAAGCCCTACTCTGC 0.408 NA C||| 24 0.00479233 0.0 0.0 5008 , , NA 18107 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 45 45 45 NA NA 11 NA 5322249 2201 4297 6498 SO:0001583 missense BC069094 CCDS7757.1 11p15.4 2012-08-09 ENSG00000183251 ENSG00000183251 79339 GPCR / Class A : Olfactory receptors 14708 protein-coding gene gene with protein product NA Standard NM_033179 NM_033179 NA Approved uc010qza.2 Q9Y5P0 OTTHUMG00000066665 ENST00000380224.1:c.928G>C chr11.hg19:g.5322249C>G ENSP00000369573:p.Ala310Pro NA A7MAV5|Q6NTD7 hg19 CCDS7757.1 0.02 18.496677 AAGxCCT COVERED 10 0.004578754578754579 0 0.0 0 0.0 10 0.017482517482517484 0 0.0 C 10.14 1.268094 0.23136 . . ENSG00000183251 ENST00000380224 T 0.00006 9.73 3.61 -3.25 0.05079 . 1.675450 0.03717 U 0.251217 T 0.00012 0.0000 N 0.08118 0 0.09310 N 1 P 0.41041 0.736 B 0.32465 0.146 T 0.04723 -1.0931 10 0.62326 D 0.03 . 3.1346 0.06435 0.3212:0.2501:0.0:0.4287 . 310 Q9Y5P0 O51B4_HUMAN P 310 ENSP00000369573:A310P ENSP00000369573:A310P A - 1 0 OR51B4 5278825 0.038000 0.19896 0.000000 0.03702 0.000000 0.00434 -0.020000 0.12525 -0.724000 0.04908 -1.059000 0.02297 GCT NOVEL OR51B4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142956.2 1 16.252143 KEEP 0 0 0 54 1884 CC 1 1 0 - 16 60 563 0 0 33.860653 440 60 16200 588 ENST00000380224.1 0.035088 1 OR51J1 79470 __UNKNOWN__ __UNKNOWN__ 11 5423868 5423868 __UNKNOWN__ Silent SNP T T A rs2647583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5423868T>A ENST00000332043.1 + 1 42 c.42T>A c.(40-42)acT>acA p.T14T HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA Q9H342 O51J1_HUMAN olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene) 14 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA TACCTACGACTTTCATTTTGG 0.428 NA A||| 859 0.171526 0.3011 0.1153 5008 , , NA 19952 0.1478 NA 0.1113 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 11p15.4 2012-08-09 2008-06-12 2004-03-10 ENSG00000184321 ENSG00000184321 79470 GPCR / Class A : Olfactory receptors 14856 protein-coding gene gene with protein product olfactory receptor, family 51, subfamily J, member 1 OR51J2, OR51J1P NA Standard NG_002252 NG_002252 NA Approved Q9H342 OTTHUMG00000066666 ENST00000332043.1:c.42T>A chr11.hg19:g.5423868T>A NA hg19 0.02 16.99647 GACxTTC COVERED NOVEL OR51J1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000142957.1 3 13.238657 KEEP 0 0 0 44 1368 TT 1 1 0 + 12 60 437 0 0 25.6046 422 60 15729 555 ENST00000332043.1 0.02765 1 OR51J1 79470 __UNKNOWN__ __UNKNOWN__ 11 5424552 5424552 __UNKNOWN__ Silent SNP A A G rs872166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5424552A>G ENST00000332043.1 + 1 726 c.726A>G c.(724-726)acA>acG p.T242T HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA Q9H342 O51J1_HUMAN olfactory receptor, family 51, subfamily J, member 1 (gene/pseudogene) 242 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA CACTCAACACATGTGGCTCAC 0.512 NA A||| 859 0.171526 0.3011 0.1153 5008 , , NA 23870 0.1478 NA 0.1113 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 11p15.4 2012-08-09 2008-06-12 2004-03-10 ENSG00000184321 ENSG00000184321 79470 GPCR / Class A : Olfactory receptors 14856 protein-coding gene gene with protein product olfactory receptor, family 51, subfamily J, member 1 OR51J2, OR51J1P NA Standard NG_002252 NG_002252 NA Approved Q9H342 OTTHUMG00000066666 ENST00000332043.1:c.726A>G chr11.hg19:g.5424552A>G NA hg19 0.02 13.980808 CACxTGT COVERED NOVEL OR51J1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000142957.1 4 7.515219 KEEP 0 0 0 25 763 AA 0.999931 0.999931 0 + 11 60 374 0 0 20.954627 376 60 13828 469 ENST00000332043.1 0.028424 1 HBG2 3048 __UNKNOWN__ __UNKNOWN__ 11 5424861 5424861 __UNKNOWN__ Intron SNP G G A rs2647581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5424861G>A ENST00000380259.2 - 5 677 HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA P69892 HBG2_HUMAN hemoglobin, gamma G NA NA blood coagulation (GO:0007596) blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGTTATGCGATTGATATCA 0.413 NA A||| 861 0.171925 0.3018 0.1153 5008 , , NA 24085 0.1478 NA 0.1113 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC029387 CCDS7755.1 11p15.5 2014-05-19 ENSG00000196565 ENSG00000196565 3048 4832 protein-coding gene gene with protein product 142250 NA 2649166 Standard NM_000184 NM_000184 NA Approved HBG-T1 P69892 OTTHUMG00000066673 ENST00000380259.2:c.564-57732C>T chr11.hg19:g.5424861G>A NA A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7 hg19 CCDS7755.1 0.02 10.223217 TGCxATT COVERED NOVEL HBG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142967.2 2 4.848613 KEEP 0 1 28 26 870 GG 0.999988 0.999988 0 - 11 60 398 0 0 24.792522 276 60 10140 359 ENST00000380259.2 0.038328 1 OR51I1 390063 __UNKNOWN__ __UNKNOWN__ 11 5462105 5462105 __UNKNOWN__ Missense_Mutation SNP T T C rs60832895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5462105T>C ENST00000380211.1 - 1 639 c.640A>G c.(640-642)Act>Gct p.T214A HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 214 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATGAAAGTTGAGTCCATA 0.458 NA T||| 580 0.115815 0.0008 0.0807 5008 , , NA 23886 0.3581 NA 0.006 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 T ALA/THR 11,4391 17.9+/-39.9 0,11,2190 70 66 67 640 -5.3 0 11 dbSNP_129 67 29,8565 20.4+/-63.3 0,29,4268 yes missense OR51I1 NM_001005288.2 58 0,40,6458 CC,CT,TT 0.3374,0.2499,0.3078 benign 214/315 5462105 40,12956 2201 4297 6498 SO:0001583 missense BK004429 CCDS31382.1 11p15.4 2012-08-09 ENSG00000167359 ENSG00000167359 390063 GPCR / Class A : Olfactory receptors 15200 protein-coding gene gene with protein product NA Standard NM_001005288 NM_001005288 NA Approved uc010qze.2 Q9H343 OTTHUMG00000066908 ENST00000380211.1:c.640A>G chr11.hg19:g.5462105T>C ENSP00000369559:p.Thr214Ala NA B9EKW2|Q6IF33 hg19 CCDS31382.1 0.02 11.899095 AAGxTGA COVERED 217 0.09935897435897435 1 0.0020325203252032522 23 0.06353591160220995 186 0.32517482517482516 7 0.009234828496042216 T 9.043 0.990057 0.18966 0.002499 0.003374 ENSG00000167359 ENST00000321307;ENST00000380211 T 0.35789 1.29 5.47 -5.28 0.02755 GPCR, rhodopsin-like superfamily (1); 0.852931 0.09997 N 0.728956 T 0.00012 0.0000 N 0.00760 -1.21 0.80722 P 0.0 B 0.02656 0.0 B 0.09377 0.004 T 0.45948 -0.9226 9 0.33940 T 0.23 . 9.4134 0.38505 0.0:0.5263:0.1949:0.2788 rs60832895;rs61729496 214 Q9H343 O51I1_HUMAN A 211;214 ENSP00000369559:T214A ENSP00000439622:T211A T - 1 0 OR51I1 5418681 0.000000 0.05858 0.019000 0.16419 0.976000 0.68499 -6.740000 0.00055 -0.373000 0.07979 0.450000 0.29827 ACT NOVEL OR51I1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143399.1 2 7.522844 KEEP 0 0 0 25 797 TT 0.999931 0.999931 0 - 15 60 555 0 0 37.423336 263 60 9378 351 ENST00000380211.1 0.053957 1 OR51I1 390063 __UNKNOWN__ __UNKNOWN__ 11 5462702 5462702 __UNKNOWN__ Nonsense_Mutation SNP G G A rs16930998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5462702G>A ENST00000380211.1 - 1 42 c.43C>T c.(43-45)Cag>Tag p.Q15* HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 15 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGTCAGCTGGAGTGTTGCT 0.512 NA G||| 643 0.128395 0.0121 0.1023 5008 , , NA 21566 0.3581 NA 0.0318 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 G stop/GLN 49,4353 50.2+/-85.5 1,47,2153 75 77 76 43 5 1 11 dbSNP_123 76 200,8394 86.6+/-149.0 2,196,4099 yes stop-gained OR51I1 NM_001005288.2 3,243,6252 AA,AG,GG 2.3272,1.1131,1.916 15/315 5462702 249,12747 2201 4297 6498 SO:0001587 stop_gained BK004429 CCDS31382.1 11p15.4 2012-08-09 ENSG00000167359 ENSG00000167359 390063 GPCR / Class A : Olfactory receptors 15200 protein-coding gene gene with protein product NA Standard NM_001005288 NM_001005288 NA Approved uc010qze.2 Q9H343 OTTHUMG00000066908 ENST00000380211.1:c.43C>T chr11.hg19:g.5462702G>A ENSP00000369559:p.Gln15* NA B9EKW2|Q6IF33 hg19 CCDS31382.1 0.02 4.053067 GCTxGAG COVERED 245 0.11217948717948718 5 0.01016260162601626 31 0.0856353591160221 186 0.32517482517482516 23 0.030343007915567283 G 20.5 3.993011 0.74703 0.011131 0.023272 ENSG00000167359 ENST00000321307;ENST00000380211 . . . 4.98 4.98 0.66077 . 0.333772 0.22576 N 0.058270 . . . . . . 0.09310 P 1.0 . . . . . . . . . . 0.87932 D 0 . 12.2753 0.54730 0.0:0.0:0.8304:0.1696 rs16930998;rs52798447;rs16930998 . . . X 12;15 . ENSP00000439622:Q12X Q - 1 0 OR51I1 5419278 0.132000 0.22450 0.998000 0.56505 0.714000 0.41099 0.990000 0.29642 2.643000 0.89663 0.644000 0.83932 CAG NOVEL OR51I1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143399.1 0 3.912808 KEEP 0 0 0 13 462 GG 0.994391 0.99439 0 - 5 60 185 0 0 11.719344 123 60 4474 159 ENST00000380211.1 0.039062 1 OR51I2 390064 __UNKNOWN__ __UNKNOWN__ 11 5475170 5475170 __UNKNOWN__ Missense_Mutation SNP G G C rs16931292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5475170G>C ENST00000341449.2 + 1 533 c.452G>C c.(451-453)cGa>cCa p.R151P HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 151 NA R -> P (in dbSNP:rs16931292). detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGCTGCTCGAAGCTTCATC 0.493 NA G||| 589 0.117612 0.034 0.0951 5008 , , NA 23298 0.2173 NA 0.1243 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 G PRO/ARG 222,4180 135.3+/-171.4 8,206,1987 162 149 153 452 3.7 0.3 11 dbSNP_123 153 1078,7516 226.5+/-262.2 63,952,3282 yes missense OR51I2 NM_001004754.2 103 71,1158,5269 CC,CG,GG 12.5436,5.0432,10.0031 possibly-damaging 151/313 5475170 1300,11696 2201 4297 6498 SO:0001583 missense BK004381 CCDS31383.1 11p15.4 2012-08-09 ENSG00000187918 ENSG00000187918 390064 GPCR / Class A : Olfactory receptors 15201 protein-coding gene gene with protein product NA Standard NM_001004754 NM_001004754 NA Approved uc010qzf.2 Q9H344 OTTHUMG00000066902 ENST00000341449.2:c.452G>C chr11.hg19:g.5475170G>C ENSP00000341987:p.Arg151Pro NA Q6IF81 hg19 CCDS31383.1 0.02 12.872148 CTCxAAG COVERED 274 0.12545787545787546 13 0.026422764227642278 35 0.09668508287292818 126 0.2202797202797203 100 0.13192612137203166 G 9.965 1.223754 0.22457 0.050432 0.125436 ENSG00000187918 ENST00000341449 T 0.37058 1.22 5.58 3.7 0.42460 GPCR, rhodopsin-like superfamily (1); 0.103708 0.43110 D 0.000603 T 0.00073 0.0002 H 0.95712 3.71 0.80722 P 0.0 P 0.44478 0.836 P 0.51055 0.657 T 0.15492 -1.0435 9 0.72032 D 0.01 . 10.781 0.46377 0.1567:0.0:0.8433:0.0 rs16931292;rs52811182;rs16931292 151 Q9H344 O51I2_HUMAN P 151 ENSP00000341987:R151P ENSP00000341987:R151P R + 2 0 OR51I2 5431746 0.000000 0.05858 0.268000 0.24571 0.100000 0.18952 0.790000 0.26900 1.613000 0.50231 -0.122000 0.15005 CGA NOVEL OR51I2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143385.1 1 10.532546 KEEP 0 0 0 35 1162 GG 0.999999 0.999999 0 + 14 60 508 0 0 32.200338 323 60 11199 407 ENST00000341449.2 0.041543 1 OR52D1 390066 __UNKNOWN__ __UNKNOWN__ 11 5510341 5510341 __UNKNOWN__ Silent SNP C C T rs404280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5510341C>T ENST00000322641.5 + 1 427 c.405C>T c.(403-405)taC>taT p.Y135Y HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 135 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTAAGGTACACAACCATTC 0.463 NA C||| 2631 0.525359 0.323 0.5836 5008 , , NA 25054 0.6071 NA 0.5944 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 C 1689,2713 510.6+/-367.6 357,975,869 226 209 215 405 -2 0.1 11 dbSNP_80 215 5360,3234 650.5+/-400.7 1683,1994,620 no coding-synonymous OR52D1 NM_001005163.2 2040,2969,1489 TT,TC,CC 37.6309,38.3689,45.7602 135/319 5510341 7049,5947 2201 4297 6498 SO:0001819 synonymous_variant BK004276 CCDS31384.1 11p15.4 2012-08-09 ENSG00000181609 ENSG00000181609 390066 GPCR / Class A : Olfactory receptors 15212 protein-coding gene gene with protein product NA Standard NM_001005163 NM_001005163 NA Approved uc010qzg.2 Q9H346 OTTHUMG00000066895 ENST00000322641.5:c.405C>T chr11.hg19:g.5510341C>T NA B9EGY9|Q6IFI6 hg19 CCDS31384.1 0.02 13.341235 GTAxACA COVERED NOVEL OR52D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143372.1 2 8.426928 KEEP 0 0 0 28 984 CC 0.999997 0.999997 0 + 17 60 607 0 0 39.766332 312 60 11782 416 ENST00000322641.5 0.051672 1 UBQLNL 143630 __UNKNOWN__ __UNKNOWN__ 11 5537245 5537245 __UNKNOWN__ Missense_Mutation SNP G G T rs3802978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5537245G>T ENST00000380184.1 - 1 690 c.427C>A c.(427-429)Caa>Aaa p.Q143K HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 143 NA Q -> K (in dbSNP:rs3802978). endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) ACTGGAGCTTGATTCATACCA 0.537 NA G||| 466 0.0930511 0.0908 0.0187 5008 , , NA 22032 0.2252 NA 0.008 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 G LYS/GLN 398,4004 198.7+/-222.5 12,374,1815 186 183 184 427 -0.5 0 11 dbSNP_107 184 93,8501 54.0+/-114.7 0,93,4204 yes missense UBQLNL NM_145053.4 53 12,467,6019 TT,TG,GG 1.0822,9.0413,3.7781 benign 143/476 5537245 491,12505 2201 4297 6498 SO:0001583 missense AK127987 CCDS31385.1 11p15.4 2014-02-12 ENSG00000175518 ENSG00000175518 143630 Ubiquilin family 28294 protein-coding gene gene with protein product NA Standard NM_145053 NM_145053 NA Approved MGC20470, MGC26958 uc001maz.4 Q8IYU4 OTTHUMG00000066903 ENST00000380184.1:c.427C>A chr11.hg19:g.5537245G>T ENSP00000369531:p.Gln143Lys NA Q6ZRU1|Q96EK3|Q96MB0 hg19 CCDS31385.1 0.02 3.675412 CTTxATT COVERED 176 0.08058608058608059 35 0.07113821138211382 7 0.019337016574585635 128 0.22377622377622378 6 0.0079155672823219 G 0.051 -1.249312 0.01469 0.090413 0.010822 ENSG00000175518 ENST00000380184 T 0.47869 0.83 4.87 -0.51 0.11973 . 0.968763 0.08419 N 0.948700 T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 B 0.19331 0.035 B 0.17433 0.018 T 0.19614 -1.0300 9 0.36615 T 0.2 -7.7372 6.2957 0.21085 0.1834:0.4773:0.3392:0.0 rs3802978;rs3802978 143 Q8IYU4 UBQLN_HUMAN K 143 ENSP00000369531:Q143K ENSP00000369531:Q143K Q - 1 0 UBQLNL 5493821 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 0.432000 0.21461 -0.264000 0.09365 -0.150000 0.13652 CAA NOVEL UBQLNL-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143386.1 3 5.718717 KEEP 0 0 0 19 677 GG 0.99986 0.99986 0 - 6 60 193 0 0 11.47832 131 60 4894 183 ENST00000380184.1 0.043796 1 OR52B6 340980 __UNKNOWN__ __UNKNOWN__ 11 5602275 5602275 __UNKNOWN__ Missense_Mutation SNP A A G rs1077126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5602275A>G ENST00000345043.2 + 1 169 c.169A>G c.(169-171)Act>Gct p.T57A HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 57 NA T -> A (in dbSNP:rs1077126). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGTACATCACTGCCCTGGA 0.517 NA G||| 2866 0.572284 0.6362 0.5692 5008 , , NA 22571 0.7669 NA 0.331 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 G ALA/THR 2410,1890 676,1058,416 137 134 135 169 3.2 0 11 dbSNP_86 135 2665,5879 430,1805,2037 yes missense OR52B6 NM_001005162.2 58 1106,2863,2453 GG,GA,AA 31.1915,43.9535,39.5126 benign 57/336 5602275 5075,7769 2150 4272 6422 SO:0001583 missense AB065858 CCDS41611.1 11p15.4 2012-08-09 ENSG00000187747 ENSG00000187747 340980 GPCR / Class A : Olfactory receptors 15211 protein-coding gene gene with protein product NA Standard NM_001005162 NM_001005162 NA Approved uc010qzi.2 Q8NGF0 OTTHUMG00000066906 ENST00000345043.2:c.169A>G chr11.hg19:g.5602275A>G ENSP00000341581:p.Thr57Ala NA Q6IFI7 hg19 CCDS41611.1 0.02 8.240766 ATCxCTG COVERED 1194 0.5467032967032966 309 0.6280487804878049 191 0.5276243093922652 437 0.763986013986014 257 0.3390501319261214 G 0.219 -1.029841 0.02045 0.560465 0.311915 ENSG00000187747 ENST00000345043 T 0.00424 7.45 5.15 3.24 0.37175 . 0.000000 0.39146 N 0.001448 T 0.00012 0.0000 N 0.16567 0.415 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.04065 -1.0980 9 0.28530 T 0.3 . 9.2843 0.37746 0.2456:0.0:0.7544:0.0 rs1077126;rs16933198;rs17341305;rs52803016;rs58461358;rs1077126 57 Q8NGF0 O52B6_HUMAN A 57 ENSP00000341581:T57A ENSP00000341581:T57A T + 1 0 OR52B6 5558851 0.000000 0.05858 0.002000 0.10522 0.008000 0.06430 -0.981000 0.03766 0.774000 0.33427 -0.748000 0.03510 ACT NOVEL OR52B6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143397.1 4 8.725865 KEEP 0 0 0 29 901 AA 0.999997 0.999997 0 + 9 60 312 0 0 19.22223 209 60 7508 305 ENST00000345043.2 0.041284 1 OR52B6 340980 __UNKNOWN__ __UNKNOWN__ 11 5602605 5602605 __UNKNOWN__ Missense_Mutation SNP G G A rs2341433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5602605G>A ENST00000345043.2 + 1 499 c.499G>A c.(499-501)Gcc>Acc p.A167T HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 167 NA A -> T (in dbSNP:rs2341433). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGTCACTGCCGCCCTGAGCCA 0.507 NA G||| 2831 0.565296 0.6142 0.562 5008 , , NA 24980 0.7659 NA 0.331 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 G THR/ALA 2408,1994 582.3+/-385.5 657,1094,450 191 200 196 499 1.6 0 11 dbSNP_100 196 2694,5898 421.6+/-353.8 427,1840,2029 yes missense OR52B6 NM_001005162.2 58 1084,2934,2479 AA,AG,GG 31.3547,45.2976,39.2643 benign 167/336 5602605 5102,7892 2201 4296 6497 SO:0001583 missense AB065858 CCDS41611.1 11p15.4 2012-08-09 ENSG00000187747 ENSG00000187747 340980 GPCR / Class A : Olfactory receptors 15211 protein-coding gene gene with protein product NA Standard NM_001005162 NM_001005162 NA Approved uc010qzi.2 Q8NGF0 OTTHUMG00000066906 ENST00000345043.2:c.499G>A chr11.hg19:g.5602605G>A ENSP00000341581:p.Ala167Thr NA Q6IFI7 hg19 CCDS41611.1 0.02 12.694198 GCCxCCC COVERED 1182 0.5412087912087912 298 0.6056910569105691 191 0.5276243093922652 436 0.7622377622377622 257 0.3390501319261214 G 3.422 -0.117846 0.06838 0.547024 0.313547 ENSG00000187747 ENST00000345043 T 0.37584 1.19 5.15 1.57 0.23409 GPCR, rhodopsin-like superfamily (1); 0.372331 0.19199 N 0.120223 T 0.00012 0.0000 N 0.25789 0.76 0.80722 P 0.0 B 0.15473 0.013 B 0.18561 0.022 T 0.34179 -0.9839 9 0.09338 T 0.73 . 8.4941 0.33117 0.679:0.0:0.321:0.0 rs2341433;rs16933207;rs60635257;rs2341433 167 Q8NGF0 O52B6_HUMAN T 167 ENSP00000341581:A167T ENSP00000341581:A167T A + 1 0 OR52B6 5559181 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.549000 0.06041 0.101000 0.17610 -1.656000 0.00753 GCC NOVEL OR52B6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000143397.1 1 12.27174 KEEP 0 1 29 51 1711 GG 1 1 0 + 15 60 497 0 0 30.514049 323 60 11152 470 ENST00000345043.2 0.044379 1 HBG2 3048 __UNKNOWN__ __UNKNOWN__ 11 5603136 5603136 __UNKNOWN__ Intron SNP C C A rs10838376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5603136C>A ENST00000380259.2 - 4 677 AC015691.13_ENST00000394793.2_RNA P69892 HBG2_HUMAN hemoglobin, gamma G NA NA blood coagulation (GO:0007596) blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344) endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAGTCTCAACCCTTTTCTAT 0.373 NA C||| 2780 0.555112 0.587 0.5605 5008 , , NA 20904 0.753 NA 0.33 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 C 1895,1831 492,911,460 66 60 62 -0.2 0 11 dbSNP_120 62 2510,5678 399,1712,1983 no near-gene-3 891,2623,2443 AA,AC,CC 30.6546,49.1412,36.9733 5603136 4405,7509 1863 4094 5957 SO:0001627 intron_variant BC029387 CCDS7755.1 11p15.5 2014-05-19 ENSG00000196565 ENSG00000196565 3048 4832 protein-coding gene gene with protein product 142250 NA 2649166 Standard NM_000184 NM_000184 NA Approved HBG-T1 P69892 OTTHUMG00000066673 ENST00000380259.2:c.563+8918G>T chr11.hg19:g.5603136C>A NA A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7 hg19 CCDS7755.1 0.02 30.616252 CAAxCCT COVERED NOVEL HBG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142967.2 3 19.262092 KEEP 0 0 0 64 2270 CC 1 1 0 - 28 60 986 0 0 59.380592 769 60 28609 1048 ENST00000380259.2 0.035132 1 TRIM6 117854 __UNKNOWN__ __UNKNOWN__ 11 5625847 5625847 __UNKNOWN__ 5'UTR SNP A A G rs3751006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5625847A>G ENST00000445329.1 + 0 381 TRIM6_ENST00000506134.1_5'UTR|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000380107.1_Silent_p.K143K|TRIM6_ENST00000380097.3_Silent_p.K197K|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.K197K|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000278302.5_Silent_p.K169K NM_001198645.1 NP_001185574.1 Q9C030 TRIM6_HUMAN tripartite motif containing 6 NA NA protein trimerization (GO:0070206) cytoplasm (GO:0005737) zinc ion binding (GO:0008270) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) GAGAGAAGAAAACATCCTGGA 0.468 NA G||| 3505 0.69988 0.7171 0.6556 5008 , , NA 20342 0.7212 NA 0.5865 False NA ,,, NA NA NA 2504 0.8027 NA NA NA NA 0 G ,,,, 3172,1230 424.9+/-340.6 1123,926,152 109 109 109 591,591,,,507 0.6 0 11 dbSNP_107 109 5341,3253 488.7+/-372.4 1674,1993,630 no coding-synonymous,coding-synonymous,utr-5,intron,coding-synonymous TRIM6,TRIM6-TRIM34 NM_001003818.2,NM_001003819.3,NM_001198644.1,NM_001198645.1,NM_058166.4 ,,,, 2797,2919,782 GG,GA,AA 37.852,27.9418,34.4952 ,,,, 197/517,197/843,,,169/489 5625847 8513,4483 2201 4297 6498 SO:0001623 5_prime_UTR_variant AF220030 CCDS31389.1, CCDS31390.1, CCDS55738.1 11p15 2013-01-09 2011-01-25 ENSG00000121236 ENSG00000121236 117854 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16277 protein-coding gene gene with protein product 607564 tripartite motif-containing 6 NA 11331580 Standard NM_001003818 NM_058166 NA Approved RNF89 Q9C030 OTTHUMG00000150029 ENST00000445329.1:c.-19A>G chr11.hg19:g.5625847A>G NA A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1 hg19 CCDS55738.1 0.02 4.89055 GAAxACA COVERED NOVEL TRIM6-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000143379.3 1 11.433295 KEEP 0 0 0 38 1165 AA 1 1 0 + 7 60 278 0 0 19.186559 128 60 4555 225 ENST00000445329.1 0.051852 1 TRIM6-TRIM34 445372 __UNKNOWN__ __UNKNOWN__ 11 5664831 5664831 __UNKNOWN__ Silent SNP C C A rs3740998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5664831C>A ENST00000354852.5 + 14 2594 c.2421C>A c.(2419-2421)ggC>ggA p.G807G TRIM34_ENST00000429814.2_Silent_p.G453G|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Silent_p.G453G|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Silent_p.G453G NM_001003819.3 NP_001003819.1 TRIM6-TRIM34 readthrough NA NA NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CAAGCCATGGCTCCCTCATTT 0.463 NA C||| 1892 0.377796 0.2103 0.438 5008 , , NA 20145 0.6458 NA 0.2306 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 C ,, 1044,3358 383.2+/-324.8 133,778,1290 150 145 147 2421,1359,1359 -1.6 0.5 11 dbSNP_107 147 2042,6552 354.9+/-329.7 252,1538,2507 no coding-synonymous,coding-synonymous,coding-synonymous TRIM34,TRIM6-TRIM34 NM_001003819.3,NM_001003827.1,NM_021616.5 ,, 385,2316,3797 AA,AC,CC 23.7608,23.7165,23.7458 ,, 807/843,453/489,453/489 5664831 3086,9910 2201 4297 6498 SO:0001819 synonymous_variant AB039903 CCDS31388.1 11p15.4 2014-03-14 2011-01-25 ENSG00000258588 ENSG00000258588 445372 33440 other readthrough NA Standard NM_001003819 NM_001003819 NA Approved uc001mbf.3 OTTHUMG00000066899 ENST00000354852.5:c.2421C>A chr11.hg19:g.5664831C>A NA hg19 CCDS31388.1 0.02 26.542857 TGGxTCC COVERED NOVEL TRIM6-TRIM34-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000143374.3 4 20.467296 KEEP 0 0 0 68 2456 CC 1 1 0 + 32 60 1112 0 0 70.540304 664 60 24703 842 ENST00000354852.5 0.045977 1 TRIM5 85363 __UNKNOWN__ __UNKNOWN__ 11 5758833 5758833 __UNKNOWN__ Intron SNP T T C rs7928052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:5758833T>C ENST00000380027.1 - 4 344 Q9C035 TRIM5_HUMAN tripartite motif containing 5 NA NA activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TTTATATTTGTATGTAAATAA 0.279 NA T||| 1770 0.353435 0.298 0.2795 5008 , , NA 18433 0.503 NA 0.327 False NA ,,, NA NA NA 2504 0.3538 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF220025 CCDS31392.1, CCDS31393.1, CCDS31394.1 11p15 2014-06-03 2011-01-25 ENSG00000132256 ENSG00000132256 85363 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 16276 protein-coding gene gene with protein product tripartite motif protein TRIM5, tripartite motif protein TRIM 608487 tripartite motif-containing 5 NA 11331580 Standard NM_033034 NM_033034 NA Approved RNF88, TRIM5alpha uc001mbm.2 Q9C035 OTTHUMG00000066893 ENST00000380027.1:c.440-52209A>G chr11.hg19:g.5758833T>C NA A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034 hg19 CCDS31392.1 0.02 11.178999 TTGxATG COVERED NOVEL TRIM5-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000143362.2 1 5.251024 KEEP 0 1 36 30 948 TT 0.999997 0.999997 0 - 8 60 307 0 0 18.887412 261 60 9365 339 ENST00000380027.1 0.02974 1 OR52W1 120787 __UNKNOWN__ __UNKNOWN__ 11 6221427 6221427 __UNKNOWN__ 3'UTR SNP T T C rs12417049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6221427T>C ENST00000311352.2 + 0 1052 NM_001005178.1 NP_001005178.1 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, member 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(2)|kidney(2)|large_intestine(1)|lung(6) 11 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTCCAGTGGTAACAATGGAG 0.517 NA T||| 567 0.113219 0.003 0.1484 5008 , , NA 19226 0.2133 NA 0.0785 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 T 80,4320 2,76,2122 60 69 66 2.2 0 11 dbSNP_120 66 640,7950 21,598,3676 no near-gene-3 23,674,5798 CC,CT,TT 7.4505,1.8182,5.5427 6221427 720,12270 2200 4295 6495 SO:0001624 3_prime_UTR_variant AB065511 CCDS31407.1 11p15.4 2012-08-09 2004-03-10 ENSG00000175485 ENSG00000175485 120787 GPCR / Class A : Olfactory receptors 15239 protein-coding gene gene with protein product OR52W1P NA Standard NM_001005178 NM_001005178 NA Approved uc010qzz.2 Q6IF63 OTTHUMG00000165378 ENST00000311352.2:c.*11T>C chr11.hg19:g.6221427T>C NA Q8NH78 hg19 CCDS31407.1 0.02 16.268399 TGGxAAC COVERED NOVEL OR52W1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383758.1 1 18.954872 KEEP 0 0 0 63 1920 TT 1 1 0 + 13 60 497 0 0 31.462052 357 60 12525 557 ENST00000311352.2 0.035135 1 FAM160A2 84067 __UNKNOWN__ __UNKNOWN__ 11 6239139 6239139 __UNKNOWN__ Silent SNP A A G rs11040809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6239139A>G ENST00000265978.4 - 9 2077 c.1719T>C c.(1717-1719)cgT>cgC p.R573R FAM160A2_ENST00000524416.1_Silent_p.R559R|FAM160A2_ENST00000449352.2_Silent_p.R559R NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 559 NA early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031) FHF complex (GO:0070695) NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCACACCACGACGTGCCTCAC 0.642 NA A||| 547 0.109225 0.0106 0.1167 5008 , , NA 11293 0.0456 NA 0.2336 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 A , 207,4195 127.0+/-164.0 7,193,2001 65 61 62 1677,1719 1.6 1 11 dbSNP_120 62 2176,6416 366.5+/-334.3 280,1616,2400 no coding-synonymous,coding-synonymous FAM160A2 NM_001098794.1,NM_032127.3 , 287,1809,4401 GG,GA,AA 25.3259,4.7024,18.3392 , 559/973,573/987 6239139 2383,10611 2201 4296 6497 SO:0001819 synonymous_variant CCDS7760.1, CCDS44530.1 11p15.4 2008-06-05 2008-06-05 2008-06-05 ENSG00000051009 ENSG00000051009 84067 25378 protein-coding gene gene with protein product chromosome 11 open reading frame 56 C11orf56 NA 11230166, 11214970 Standard NM_032127 NM_001098794 NA Approved FLJ22665, KIAA1759, DKFZP566M1046 uc001mck.4 Q8N612 OTTHUMG00000133379 ENST00000265978.4:c.1719T>C chr11.hg19:g.6239139A>G NA Q9C0A4|Q9H0N3|Q9H624 hg19 CCDS7760.1 0.02 10.667676 ACGxCGT COVERED NOVEL FAM160A2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257229.2 1 22.53414 KEEP 0 2 74 101 2960 AA 1 1 0 - 10 60 352 0 0 21.080183 282 60 9306 541 ENST00000265978.4 0.034247 1 GVINP1 387751 __UNKNOWN__ __UNKNOWN__ 11 6735835 6735835 __UNKNOWN__ RNA SNP C C T rs7951709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6735835C>T ENST00000526769.3 - 0 7369 NR_003945.1 Q7Z2Y8 GVIN1_HUMAN GTPase, very large interferon inducible pseudogene 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) GTP binding (GO:0005525) NA TTTGTGGTCACTGAGTATTAC 0.378 NA C||| 476 0.0950479 0.0514 0.0965 5008 , , NA 17650 0.122 NA 0.1133 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BX538318 11p15.4 2014-03-18 2010-09-28 2010-09-28 ENSG00000254838 ENSG00000254838 387751 25813 pseudogene pseudogene very large inducible GTPase 1 GTPase, very large interferon inducible 1, GTPase, very large interferon inducible 1, pseudogene GVIN1, GVIN1P NA 12874213, 19369598 Standard NR_003945 NR_003945 NA Approved VLIG-1, FLJ13373, VLIG1 uc001meo.4 Q7Z2Y8 OTTHUMG00000165506 ENST00000526769.3: chr11.hg19:g.6735835C>T NA A6NFL2|Q9H8N5 hg19 0.02 8.501183 TCAxTGA COVERED NOVEL GVINP1-002 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000386960.3 4 8.728757 KEEP 0 0 0 29 1054 CC 0.999997 0.999997 0 - 7 60 252 0 0 15.205584 204 60 7701 284 ENST00000526769.3 0.033175 1 OR6A2 8590 __UNKNOWN__ __UNKNOWN__ 11 6816875 6816875 __UNKNOWN__ Missense_Mutation SNP G G A rs7122644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6816875G>A ENST00000332601.3 - 1 253 c.65C>T c.(64-66)gCg>gTg p.A22V NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 22 NA A -> V (in dbSNP:rs7122644). APLQVL -> VPIQVI (in Ref. 1; AAC70018). {ECO:0000305}. detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGTAGTGGCGCAGGAGCAGG 0.498 NA G||| 1567 0.312899 0.1906 0.2695 5008 , , NA 19712 0.4623 NA 0.2932 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 G VAL/ALA 978,3424 366.1+/-317.7 111,756,1334 125 98 107 65 -9.9 0 11 dbSNP_116 107 2417,6175 399.2+/-346.4 359,1699,2238 yes missense OR6A2 NM_003696.2 64 470,2455,3572 AA,AG,GG 28.1308,22.2172,26.1274 benign 22/328 6816875 3395,9599 2201 4296 6497 SO:0001583 missense AB065822 CCDS7772.1 11p15.4 2012-08-09 2004-03-10 ENSG00000184933 ENSG00000184933 8590 GPCR / Class A : Olfactory receptors 15301 protein-coding gene gene with protein product 608495 OR6A2P, OR6A1 NA Standard NM_003696 NM_003696 NA Approved OR11-55 uc001mes.1 O95222 OTTHUMG00000165736 ENST00000332601.3:c.65C>T chr11.hg19:g.6816875G>A ENSP00000330384:p.Ala22Val NA Q3MJC7|Q6IF35|Q9H206 hg19 CCDS7772.1 0.02 6.564192 GGCxCAG COVERED 646 0.2957875457875458 93 0.18902439024390244 90 0.24861878453038674 237 0.4143356643356643 226 0.29815303430079154 G 6.981 0.551115 0.13374 0.222172 0.281308 ENSG00000184933 ENST00000332601 T 0.00428 7.44 4.95 -9.9 0.00461 . 1.075410 0.07258 N 0.866968 T 0.00012 0.0000 N 0.20845 0.615 0.80722 P 0.0 B 0.06786 0.001 B 0.01281 0.0 T 0.35375 -0.9791 9 0.15499 T 0.54 . 15.1035 0.72303 0.2642:0.0969:0.6389:0.0 rs7122644;rs52837330;rs61218993;rs7122644 22 O95222 OR6A2_HUMAN V 22 ENSP00000330384:A22V ENSP00000330384:A22V A - 2 0 OR6A2 6773451 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.986000 0.01484 -2.137000 0.00809 -2.317000 0.00253 GCG NOVEL OR6A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385981.1 1 4.514803 KEEP 0 0 0 15 533 GG 0.99649 0.99649 0 - 9 60 325 0 0 21.490029 162 60 5779 207 ENST00000332601.3 0.052632 1 OR10A5 144124 __UNKNOWN__ __UNKNOWN__ 11 6867894 6867894 __UNKNOWN__ 3'UTR SNP T T C rs7105094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6867894T>C ENST00000299454.4 + 0 1012 OR10A5_ENST00000379831.2_3'UTR Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 NA NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTAAATTCTATTGAATGACAA 0.438 NA T||| 1683 0.336062 0.2602 0.2867 5008 , , NA 22956 0.4593 NA 0.3052 False NA ,,, NA NA NA 2504 0.3783 NA NA NA Pancreas(44;21 1072 25662 28041 45559) NA 0 T 1221,3161 178,865,1148 30 31 30 -5.9 0 11 dbSNP_116 30 2376,6200 355,1666,2267 no near-gene-3 533,2531,3415 CC,CT,TT 27.7052,27.864,27.7589 6867894 3597,9361 2191 4288 6479 SO:0001624 3_prime_UTR_variant AF324499 CCDS7773.1 11p15.4 2012-08-09 ENSG00000166363 ENSG00000166363 144124 GPCR / Class A : Olfactory receptors 15131 protein-coding gene gene with protein product 608493 OR10A1 NA Standard NM_178168 NM_178168 NA Approved OR11-403, JCG6 uc001met.1 Q9H207 OTTHUMG00000165738 ENST00000299454.4:c.*27T>C chr11.hg19:g.6867894T>C NA O95223|Q52M66|Q96R21|Q96R22 hg19 CCDS7773.1 0.02 27.486466 CTAxTGA COVERED NOVEL OR10A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385983.1 4 14.141445 KEEP 0 0 0 47 1519 TT 1 1 0 + 27 60 1063 0 0 71.596734 562 60 20806 779 ENST00000299454.4 0.04584 1 OR10A2 341276 __UNKNOWN__ __UNKNOWN__ 11 6891704 6891704 __UNKNOWN__ Missense_Mutation SNP T T C rs10839632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6891704T>C ENST00000307322.4 + 1 781 c.719T>C c.(718-720)aTa>aCa p.I240T NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 240 NA I -> T (in dbSNP:rs10839632). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CTTTTCTATATATCATTAAGC 0.428 NA -||| 1557 0.310903 0.205 0.2882 5008 , , NA 23908 0.4067 NA 0.325 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 T THR/ILE 1041,3361 382.8+/-324.6 133,775,1293 217 196 203 719 1.6 1 11 dbSNP_120 203 2448,6144 403.4+/-347.8 363,1722,2211 yes missense OR10A2 NM_001004460.1 89 496,2497,3504 CC,CT,TT 28.4916,23.6483,26.8509 benign 240/304 6891704 3489,9505 2201 4296 6497 SO:0001583 missense BK004293 CCDS31415.1 11p15.4 2012-08-09 2004-03-10 ENSG00000170790 ENSG00000170790 341276 GPCR / Class A : Olfactory receptors 8161 protein-coding gene gene with protein product OR10A2P NA Standard NM_001004460 NM_001004460 NA Approved OST363 uc001meu.1 Q9H208 OTTHUMG00000165739 ENST00000307322.4:c.719T>C chr11.hg19:g.6891704T>C ENSP00000303862:p.Ile240Thr NA B2RNL9|Q6IFG9 hg19 CCDS31415.1 0.02 29.317615 ATAxATC COVERED 653 0.298992673992674 95 0.19308943089430894 102 0.281767955801105 206 0.36013986013986016 250 0.32981530343007914 t 3.738 -0.054205 0.07362 0.236483 0.284916 ENSG00000170790 ENST00000307322 T 0.37915 1.17 4.18 1.6 0.23607 GPCR, rhodopsin-like superfamily (1); 0.240340 0.28606 N 0.014748 T 0.00012 0.0000 N 0.04373 -0.215 0.54753 P 2.0000000000020002E-5 B 0.02656 0.0 B 0.06405 0.002 T 0.42327 -0.9458 9 0.87932 D 0 . 9.3933 0.38386 0.0:0.0:0.3374:0.6626 rs10839632;rs52827835;rs58894419;rs10839632 240 Q9H208 O10A2_HUMAN T 240 ENSP00000303862:I240T ENSP00000303862:I240T I + 2 0 OR10A2 6848280 0.000000 0.05858 0.986000 0.45419 0.121000 0.20230 0.050000 0.14120 0.754000 0.32968 -0.323000 0.08544 ATA NOVEL OR10A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385984.1 4 14.141523 KEEP 0 0 0 47 1446 TT 1 1 0 + 40 60 1535 0 0 107.563246 602 60 22012 849 ENST00000307322.4 0.062305 1 OR10A4 283297 __UNKNOWN__ __UNKNOWN__ 11 6898663 6898663 __UNKNOWN__ Missense_Mutation SNP G G A rs10839635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:6898663G>A ENST00000379829.2 + 1 808 c.785G>A c.(784-786)cGa>cAa p.R262Q NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 262 NA R -> Q (in dbSNP:rs10839635). {ECO:0000269|PubMed:15489334}. axon guidance (GO:0007411) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACGTATTTCCGACCCCAATCC 0.522 NA G||| 1548 0.309105 0.2042 0.2882 5008 , , NA 19605 0.3988 NA 0.325 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 GLN/ARG 1040,3362 382.5+/-324.5 134,772,1295 171 140 150 785 4 0.9 11 dbSNP_120 150 2442,6150 402.8+/-347.6 362,1718,2216 yes missense OR10A4 NM_207186.2 43 496,2490,3511 AA,AG,GG 28.4218,23.6256,26.797 possibly-damaging 262/316 6898663 3482,9512 2201 4296 6497 SO:0001583 missense AF209506 CCDS7774.1 11p15.4 2012-08-09 2002-11-13 2004-03-10 ENSG00000170782 ENSG00000170782 283297 GPCR / Class A : Olfactory receptors 15130 protein-coding gene gene with protein product olfactory receptor, family 10, subfamily A, member 4 pseudogene OR10A4P NA Standard NM_207186 NM_207186 NA Approved uc010rat.2 Q9H209 OTTHUMG00000165740 ENST00000379829.2:c.785G>A chr11.hg19:g.6898663G>A ENSP00000369157:p.Arg262Gln NA B2RNP5|B9EH36|Q96R20 hg19 CCDS7774.1 0.02 12.667328 TCCxACC COVERED 649 0.29716117216117216 95 0.19308943089430894 102 0.281767955801105 202 0.3531468531468531 250 0.32981530343007914 g 9.692 1.152108 0.21371 0.236256 0.284218 ENSG00000170782 ENST00000379829 T 0.37235 1.21 4.04 4.04 0.47022 GPCR, rhodopsin-like superfamily (1); 0.000000 0.37530 N 0.002055 T 0.00012 0.0000 N 0.20357 0.565 0.39828 P 0.027078999999999964 P 0.48230 0.907 P 0.49953 0.627 T 0.35674 -0.9779 9 0.15952 T 0.53 . 7.8776 0.29603 0.1097:0.0:0.8903:0.0 rs10839635;rs52822008;rs60284173;rs10839635 262 Q9H209 O10A4_HUMAN Q 262 ENSP00000369157:R262Q ENSP00000369157:R262Q R + 2 0 OR10A4 6855239 0.001000 0.12720 0.916000 0.36221 0.131000 0.20780 0.803000 0.27083 2.554000 0.86153 0.651000 0.88453 CGA NOVEL OR10A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385985.1 1 15.045568 KEEP 0 0 0 50 1625 GG 1 1 0 + 22 60 790 0 0 53.861275 327 60 11272 476 ENST00000379829.2 0.063037 1 NLRP14 338323 __UNKNOWN__ __UNKNOWN__ 11 7064876 7064876 __UNKNOWN__ Missense_Mutation SNP G G A rs142485585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7064876G>A ENST00000299481.4 + 4 1965 c.1619G>A c.(1618-1620)cGa>cAa p.R540Q NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 540 NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) ATP binding (GO:0005524) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AATGAAGATCGAGTAAAACAA 0.343 NA G||| 9 0.00179712 0.0 0.0 5008 , , NA 20242 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 72 74 73 NA NA 11 NA 7064876 2201 4296 6497 SO:0001583 missense BK001107 CCDS7776.1 11p15.4 2006-12-08 2006-12-08 2006-12-08 ENSG00000158077 338323 Nucleotide-binding domain and leucine rich repeat containing 22939 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14 609665 NACHT, leucine rich repeat and PYD containing 14 NALP14 NA 12563287 Standard NM_176822 NM_176822 NA Approved NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2 uc001mfb.1 Q86W24 ENST00000299481.4:c.1619G>A chr11.hg19:g.7064876G>A ENSP00000299481:p.Arg540Gln NA Q7RTR6 hg19 CCDS7776.1 0.02 12.210795 ATCxAGT COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 G 11.49 1.654968 0.29425 . . ENSG00000158077 ENST00000299481 D 0.83755 -1.76 4.55 -9.1 0.00714 . 1.816260 0.03664 N 0.243047 T 0.73071 0.3540 M 0.85197 2.74 0.09310 N 1 B 0.27013 0.166 B 0.17433 0.018 T 0.58752 -0.7581 10 0.30078 T 0.28 . 6.0599 0.19832 0.0728:0.096:0.2059:0.6253 . 540 Q86W24 NAL14_HUMAN Q 540 ENSP00000299481:R540Q ENSP00000299481:R540Q R + 2 0 NLRP14 7021452 0.000000 0.05858 0.000000 0.03702 0.949000 0.60115 -1.441000 0.02409 -1.359000 0.02174 -0.182000 0.12963 CGA NOVEL NLRP14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384551.1 3 8.560727 KEEP 0 1 27 38 1279 GG 1 1 0 + 14 60 502 0 0 32.118031 296 60 10485 399 ENST00000299481.4 0.045161 1 RBMXL2 27288 __UNKNOWN__ __UNKNOWN__ 11 7110363 7110363 __UNKNOWN__ Silent SNP G G A rs4758158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7110363G>A ENST00000306904.5 + 1 199 c.12G>A c.(10-12)gcG>gcA p.A4A NM_014469.4 NP_055284.3 O75526 RMXL2_HUMAN RNA binding motif protein, X-linked-like 2 4 NA nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGTTGAAGCGGATCGCCCGG 0.652 NA G||| 1589 0.317292 0.1437 0.2954 5008 , , NA 11303 0.4385 NA 0.3648 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 G 670,3732 274.9+/-272.2 61,548,1592 30 33 32 12 -5.6 0.4 11 dbSNP_111 32 2890,5702 447.9+/-361.7 513,1864,1919 no coding-synonymous RBMXL2 NM_014469.4 574,2412,3511 AA,AG,GG 33.6359,15.2204,27.3973 4/393 7110363 3560,9434 2201 4296 6497 SO:0001819 synonymous_variant AF069682 CCDS7777.1 11p15 2013-07-16 ENSG00000170748 27288 RNA binding motif (RRM) containing 17886 protein-coding gene gene with protein product heterogeneous nuclear ribonucleoprotein G T 605444 NA 10958650 Standard NM_014469 NM_014469 NA Approved HNRNPG-T, HNRPGT uc001mfc.2 O75526 ENST00000306904.5:c.12G>A chr11.hg19:g.7110363G>A NA Q6PEZ2|Q9NQU0 hg19 CCDS7777.1 0.02 13.628852 AGCxGAT COVERED NOVEL RBMXL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384552.1 0 26.215585 KEEP 0 1 31 98 3320 GG 1 1 0 + 10 60 384 0 0 23.867715 309 60 10751 539 ENST00000306904.5 0.031348 1 PPFIBP2 8495 __UNKNOWN__ __UNKNOWN__ 11 7652214 7652214 __UNKNOWN__ Missense_Mutation SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7652214G>C ENST00000530181.1 + 7 815 c.594G>C c.(592-594)aaG>aaC p.K198N PPFIBP2_ENST00000299492.4_Missense_Mutation_p.K341N|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.K229N|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.K183N NM_001256569.1 NP_001243498 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 341 NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786) DNA binding (GO:0003677)|integrase activity (GO:0008907) breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) GTTTCAGCAAGTGGAACGCTA 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 121 129 126 NA NA 11 NA 7652214 2201 4296 6497 SO:0001583 missense AF034803 CCDS31419.1, CCDS58116.1, CCDS58117.1 11p15.4 2013-01-10 ENSG00000166387 ENSG00000166387 8495 Sterile alpha motif (SAM) domain containing 9250 protein-coding gene gene with protein product 603142 NA 9624153 Standard NM_003621 NM_003621 NA Approved Cclp1 uc001mfj.5 Q8ND30 OTTHUMG00000165617 ENST00000530181.1:c.594G>C chr11.hg19:g.7652214G>C ENSP00000437321:p.Lys198Asn NA B7Z433|E9PK77|O75337|Q8WW26 hg19 CCDS58117.1 0.02 9.749432 CAAxTGG COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 11.14|11.14 1.550887|1.550887 0.27739|0.27739 .|. .|. ENSG00000166387|ENSG00000166387 ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181|ENST00000534409 T;T;T;T|. 0.70631|. -0.5;-0.5;-0.5;-0.5|. 6.17|6.17 0.704|0.704 0.18121|0.18121 .|. 0.137057|. 0.49916|. N|. 0.000135|. T|T 0.53012|0.53012 0.1770|0.1770 L|L 0.51422|0.51422 1.61|1.61 0.39563|0.39563 D|D 0.96916|0.96916 B;B;B;B;B|. 0.12013|. 0.001;0.002;0.002;0.005;0.005|. B;B;B;B;B|. 0.11329|. 0.002;0.003;0.006;0.005;0.004|. T|T 0.43540|0.43540 -0.9385|-0.9385 10|5 0.22706|. T|. 0.39|. -8.7574|-8.7574 6.1708|6.1708 0.20416|0.20416 0.3361:0.1357:0.5282:0.0|0.3361:0.1357:0.5282:0.0 .|. 229;229;264;198;341|. E9PK77;B7Z433;F5GWB0;E9PMU1;Q8ND30|. .;.;.;.;LIPB2_HUMAN|. N|L 341;183;183;264;229;198|21 ENSP00000299492:K341N;ENSP00000436498:K183N;ENSP00000435469:K229N;ENSP00000437321:K198N|. ENSP00000299492:K341N|. K|V +|+ 3|1 2|0 PPFIBP2|PPFIBP2 7608790|7608790 1.000000|1.000000 0.71417|0.71417 0.994000|0.994000 0.49952|0.49952 0.252000|0.252000 0.25951|0.25951 0.855000|0.855000 0.27805|0.27805 -0.120000|-0.120000 0.11809|0.11809 -0.136000|-0.136000 0.14681|0.14681 AAG|GTG NOVEL PPFIBP2-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000385403.2 2 17.758733 KEEP 0 0 0 59 2170 GG 1 1 0 + 7 60 270 0 0 16.765231 221 60 8486 370 ENST00000530181.1 0.030702 1 PPFIBP2 8495 __UNKNOWN__ __UNKNOWN__ 11 7670943 7670943 __UNKNOWN__ Intron SNP G G A rs10839831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7670943G>A ENST00000530181.1 + 17 1913 PPFIBP2_ENST00000299492.4_Intron|PPFIBP2_ENST00000528883.1_Intron|PPFIBP2_ENST00000530582.1_Intron|PPFIBP2_ENST00000533792.1_Intron NM_001256569.1 NP_001243498 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) NA NA cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165) extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786) DNA binding (GO:0003677)|integrase activity (GO:0008907) breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) CTGAAACATCGAGCATGAGCA 0.507 NA G||| 1135 0.226637 0.0166 0.3804 5008 , , NA 22115 0.0873 NA 0.3917 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF034803 CCDS31419.1, CCDS58116.1, CCDS58117.1 11p15.4 2013-01-10 ENSG00000166387 ENSG00000166387 8495 Sterile alpha motif (SAM) domain containing 9250 protein-coding gene gene with protein product 603142 NA 9624153 Standard NM_003621 NM_003621 NA Approved Cclp1 uc001mfj.5 Q8ND30 OTTHUMG00000165617 ENST00000530181.1:c.1692+58G>A chr11.hg19:g.7670943G>A NA B7Z433|E9PK77|O75337|Q8WW26 hg19 CCDS58117.1 0.02 5.501752 ATCxAGC COVERED NOVEL PPFIBP2-008 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000385403.2 1 3.611526 KEEP 0 0 0 12 404 GG 0.993634 0.993634 0 + 6 60 211 0 0 12.759799 160 60 5853 184 ENST00000530181.1 0.036145 1 CYB5R2 51700 __UNKNOWN__ __UNKNOWN__ 11 7686584 7686584 __UNKNOWN__ 3'UTR SNP A A T rs1128627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7686584A>T ENST00000533558.1 - 0 1408 CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_3'UTR|CYB5R2_ENST00000524790.1_3'UTR Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 NA NA oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GACATGCAAAATTGCTGAGCA 0.483 NA OREG0020724 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1258 0.251198 0.0635 0.3847 5008 , , NA 21052 0.1161 NA 0.4036 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 T 498,3904 41,416,1744 53 44 47 1.6 0 11 dbSNP_86 47 3179,5413 741,1697,1858 no utr-3 CYB5R2 NM_016229.3 782,2113,3602 TT,TA,AA 36.9995,11.313,28.2977 7686584 3677,9317 2201 4296 6497 SO:0001624 3_prime_UTR_variant AF169802 CCDS7780.1 11p15.4 2014-08-12 ENSG00000166394 ENSG00000166394 51700 1.6.2.2 24376 protein-coding gene gene with protein product 608342 NA 10611283 Standard NM_016229 XM_005252973 NA Approved uc001mfm.3 Q6BCY4 OTTHUMG00000165665 ENST00000533558.1:c.*21T>A chr11.hg19:g.7686584A>T 643 Q9BVA3|Q9UF68|Q9UHJ0 hg19 CCDS7780.1 0.02 20.048158 AAAxTTG COVERED NOVEL CYB5R2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385679.1 3 13.880123 KEEP 0 4 131 92 2914 AA 1 1 0 - 13 60 486 0 0 28.724461 481 60 17521 736 ENST00000533558.1 0.026316 1 OVCH2 341277 __UNKNOWN__ __UNKNOWN__ 11 7710877 7710877 __UNKNOWN__ RNA SNP C C T rs4503519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7710877C>T ENST00000533663.1 - 0 448 Q7RTZ1 OVCH2_HUMAN ovochymase 2 (gene/pseudogene) NA NA extracellular region (GO:0005576) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) catcattacacgatattctcc 0.463 NA C||| 2323 0.463858 0.1694 0.5749 5008 , , NA 20963 0.5893 NA 0.6163 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BN000120 CCDS73251.1 11p15.4 2012-10-02 2010-06-08 ENSG00000183378 ENSG00000183378 341277 29970 protein-coding gene gene with protein product ovochymase 2 NA 12838346 Standard NM_198185 XM_006718221 NA Approved OVTN uc031pyw.1 Q7RTZ1 OTTHUMG00000165418 ENST00000533663.1: chr11.hg19:g.7710877C>T NA hg19 0.02 15.791355 ACAxGAT COVERED NOVEL OVCH2-002 KNOWN basic processed_transcript NA polymorphic_pseudogene OTTHUMT00000383928.1 4 2.481744 KEEP 0 5 159 64 2165 CC 1 1 0 - 12 60 458 0 0 28.743548 344 60 12251 548 ENST00000533663.1 0.033708 1 NLRP10 338322 __UNKNOWN__ __UNKNOWN__ 11 7982432 7982432 __UNKNOWN__ Missense_Mutation SNP G G A rs59039403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:7982432G>A ENST00000328600.2 - 2 888 c.727C>T c.(727-729)Cgg>Tgg p.R243W NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 243 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. NA defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318) cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897) ATP binding (GO:0005524) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AACAGGAGCCGCTCTGGCTGC 0.552 NA G||| 163 0.0325479 0.0446 0.0014 5008 , , NA 17215 0.1002 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G TRP/ARG 169,4233 108.6+/-147.0 7,155,2039 41 43 42 727 0.1 1 11 dbSNP_129 42 3,8589 3.0+/-9.4 0,3,4293 yes missense NLRP10 NM_176821.3 101 7,158,6332 AA,AG,GG 0.0349,3.8392,1.3237 probably-damaging 243/656 7982432 172,12822 2201 4296 6497 SO:0001583 missense AY154465 CCDS7784.1 11p15.4 2006-12-08 2006-12-08 2006-12-08 ENSG00000182261 338322 Nucleotide-binding domain and leucine rich repeat containing 21464 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10 609662 NACHT, leucine rich repeat and PYD containing 10 NALP10 NA 12563287 Standard NM_176821 NM_176821 NA Approved NOD8, PAN5, Pynod, CLR11.1 uc001mfv.1 Q86W26 ENST00000328600.2:c.727C>T chr11.hg19:g.7982432G>A ENSP00000327763:p.Arg243Trp NA Q2M3C4|Q6JGT0 hg19 CCDS7784.1 0.02 4.397234 GCCxCTC COVERED 92 0.04212454212454213 22 0.044715447154471545 1 0.0027624309392265192 68 0.11888111888111888 1 0.0013192612137203166 G 15.04 2.715929 0.48622 0.038392 3.49E-4 ENSG00000182261 ENST00000328600 D 0.83914 -1.78 4.85 0.12 0.14691 NACHT nucleoside triphosphatase (1); 0.000000 0.35207 N 0.003364 T 0.15349 0.0370 M 0.92833 3.35 0.38979 P 0.041081000000000034 D 0.89917 1.0 D 0.97110 1.0 T 0.68394 -0.5420 9 0.87932 D 0 . 5.8866 0.18884 0.0987:0.0:0.4385:0.4628 rs59039403 243 Q86W26 NAL10_HUMAN W 243 ENSP00000327763:R243W ENSP00000327763:R243W R - 1 2 NLRP10 7939008 0.000000 0.05858 0.994000 0.49952 0.475000 0.33008 0.234000 0.17930 0.136000 0.18733 0.655000 0.94253 CGG NOVEL NLRP10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385705.1 2 6.620585 KEEP 0 0 0 22 736 GG 0.999879 0.999879 0 - 5 60 196 0 0 12.532682 141 60 4795 198 ENST00000328600.2 0.034247 1 EIF3F 8665 __UNKNOWN__ __UNKNOWN__ 11 8017990 8017990 __UNKNOWN__ 3'UTR SNP A A G rs373721599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:8017990A>G ENST00000533626.1 + 0 2121 eukaryotic translation initiation factor 3, subunit F NA NA endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) atctgaactaaaagagtagag 0.348 NA A||| 2 0.000399361 0.0 0.0 5008 , , NA 18796 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U94855, AK093511 CCDS7785.1 11p15.4 2010-03-10 2007-07-27 2007-07-27 ENSG00000175390 ENSG00000175390 8665 3275 protein-coding gene gene with protein product 603914 eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa EIF3S5 NA 9341143 Standard NM_003754 NM_003754 NA Approved eIF3-epsilon, eIF3-p47, eIF3f uc001mfw.3 O00303 ENST00000533626.1:c.*421A>G chr11.hg19:g.8017990A>G NA hg19 CCDS7785.1 0.02 7.023917 CTAxAAG COVERED NOVEL EIF3F-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000385713.2 2 10.531772 KEEP 0 0 0 35 1101 AA 0.999999 0.999999 0 + 9 60 333 0 0 22.454824 155 60 5575 239 ENST00000533626.1 0.054878 1 TUB 7275 __UNKNOWN__ __UNKNOWN__ 11 8115699 8115699 __UNKNOWN__ Silent SNP T T C rs4758289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:8115699T>C ENST00000299506.2 + 4 509 c.360T>C c.(358-360)ggT>ggC p.G120G TUB_ENST00000305253.4_Silent_p.G175G|TUB_ENST00000534099.1_Silent_p.G126G NM_177972.2 NP_813977.1 P50607 TUB_HUMAN tubby bipartite transcription factor 120 NA multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886) G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403) breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) GGGGCCAGGGTGGCGCCGCTA 0.637 NA T||| 1997 0.398762 0.3805 0.4467 5008 , , NA 19413 0.5258 NA 0.2555 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 T , 1520,2882 478.8+/-358.3 270,980,951 60 63 62 525,360 1.1 1 11 dbSNP_111 62 2573,6019 417.0+/-352.3 375,1823,2098 no coding-synonymous,coding-synonymous TUB NM_003320.4,NM_177972.2 , 645,2803,3049 CC,CT,TT 29.9465,34.5298,31.4992 , 175/562,120/507 8115699 4093,8901 2201 4296 6497 SO:0001819 synonymous_variant U54644 CCDS7786.1, CCDS7787.1 11p15.5 2013-08-06 2013-08-06 ENSG00000166402 ENSG00000166402 7275 12406 protein-coding gene gene with protein product 601197 tubby (mouse) homolog, tubby homolog (mouse) NA 8612280 Standard NM_003320 NM_003320 NA Approved rd5 uc001mfy.3 P50607 OTTHUMG00000165690 ENST00000299506.2:c.360T>C chr11.hg19:g.8115699T>C NA D3DQU4|O00293|Q6B007 hg19 CCDS7787.1 0.02 6.344237 GGGxGGC COVERED NOVEL TUB-003 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385823.1 1 26.777694 KEEP 0 0 0 89 2760 TT 1 1 0 + 9 60 309 0 0 19.346243 187 60 6559 349 ENST00000299506.2 0.045918 1 AKIP1 56672 __UNKNOWN__ __UNKNOWN__ 11 8938934 8938934 __UNKNOWN__ Intron SNP C C T rs2016844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:8938934C>T ENST00000309377.4 + 5 579 AKIP1_ENST00000534147.1_Intron|AKIP1_ENST00000534506.1_Missense_Mutation_p.T143M|AKIP1_ENST00000396648.2_Intron|AKIP1_ENST00000529876.1_Missense_Mutation_p.T143M|AKIP1_ENST00000309357.4_Intron|AKIP1_ENST00000299576.5_Intron|AKIP1_ENST00000525005.1_Missense_Mutation_p.T170M NM_020642.3 NP_065693.2 Q9NQ31 AKIP1_HUMAN A kinase (PRKA) interacting protein 1 NA NA substrate adhesion-dependent cell spreading (GO:0034446) nucleus (GO:0005634) kidney(1)|large_intestine(2)|lung(2) 5 GAACTGCTTACGCACTGGGTT 0.448 NA C||| 1338 0.267173 0.1067 0.2507 5008 , , NA 22000 0.2143 NA 0.3539 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 C ,,,,, 586,3816 258.9+/-262.7 41,504,1656 68 53 58 ,,,,, -5.7 0 11 dbSNP_92 58 3046,5546 466.5+/-366.8 541,1964,1791 no intron,intron,intron,intron,intron,intron AKIP1 NM_001206645.1,NM_001206646.1,NM_001206647.1,NM_001206648.1,NM_020642.3,NM_182901.3 ,,,,, 582,2468,3447 TT,TC,CC 35.4516,13.3121,27.9514 ,,,,, ,,,,, 8938934 3632,9362 2201 4296 6497 SO:0001627 intron_variant AF512007 CCDS7793.1, CCDS55743.1, CCDS55744.1 11p15.3 2011-04-18 2011-04-18 2011-04-18 ENSG00000166452 ENSG00000166452 56672 1170 protein-coding gene gene with protein product 609191 chromosome 11 open reading frame 17 C11orf17 NA 20562110, 18178962, 15630084 Standard NM_020642 NM_020642 NA Approved BCA3 uc001mgx.3 Q9NQ31 OTTHUMG00000165653 ENST00000309377.4:c.489+20C>T chr11.hg19:g.8938934C>T NA Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0 hg19 CCDS7793.1 0.02 9.256918 TTAxGCA COVERED 545 0.24954212454212454 68 0.13821138211382114 113 0.31215469613259667 92 0.16083916083916083 272 0.35883905013192613 C 5.063 0.197328 0.09599 0.133121 0.354516 ENSG00000166452 ENST00000529876;ENST00000525005;ENST00000524577;ENST00000534506 T;T;T;T 0.34667 1.35;1.35;1.4;1.35 3.95 -5.68 0.02436 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.14438 0.01;0.01 B;B 0.09377 0.004;0.004 T 0.44787 -0.9305 6 . . . . 7.7794 0.29056 0.0:0.3997:0.4235:0.1767 rs2016844;rs3763916;rs56580073;rs58086098;rs2016844 143;170 E9PN38;B4DGE2 .;. M 143;170;170;143 ENSP00000434726:T143M;ENSP00000433510:T170M;ENSP00000434785:T170M;ENSP00000434820:T143M . T + 2 0 AKIP1 8895510 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.558000 0.02164 -1.281000 0.02399 -2.226000 0.00293 ACG NOVEL AKIP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000385615.1 2 24.679342 KEEP 0 0 0 82 2845 CC 1 1 0 + 7 60 272 0 0 17.130521 209 60 7492 374 ENST00000309377.4 0.032407 1 C11orf16 56673 __UNKNOWN__ __UNKNOWN__ 11 8942942 8942942 __UNKNOWN__ Missense_Mutation SNP C C T rs2653601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:8942942C>T ENST00000326053.5 - 6 1431 c.1325G>A c.(1324-1326)cGg>cAg p.R442Q C11orf16_ENST00000525780.1_Intron NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 442 NA R -> Q (in Ref. 1; CAB92289). {ECO:0000305}. p.R442Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) TGGCGGGGTCCGCGGTGGCTT 0.517 NA C||| 1347 0.26897 0.1059 0.2507 5008 , , NA 18759 0.2232 NA 0.3539 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C GLN/ARG 587,3815 259.8+/-263.3 42,503,1656 134 125 128 1325 -0.9 0 11 dbSNP_100 128 3049,5543 469.1+/-367.5 543,1963,1790 yes missense C11orf16 NM_020643.2 43 585,2466,3446 TT,TC,CC 35.4865,13.3348,27.9821 benign 442/468 8942942 3636,9358 2201 4296 6497 SO:0001583 missense AJ400877 CCDS7794.1 11p15.3 2008-06-25 ENSG00000176029 ENSG00000176029 56673 1169 protein-coding gene gene with protein product NA 11528127 Standard NM_020643 NM_020643 NA Approved uc001mhb.4 Q9NQ32 OTTHUMG00000165654 ENST00000326053.5:c.1325G>A chr11.hg19:g.8942942C>T ENSP00000318999:p.Arg442Gln NA Q53FB2|Q8N6Y9 hg19 CCDS7794.1 0.02 18.141694 GTCxGCG COVERED 551 0.2522893772893773 67 0.13617886178861788 113 0.31215469613259667 99 0.17307692307692307 272 0.35883905013192613 C 0.460 -0.889593 0.02511 0.133348 0.354865 ENSG00000176029 ENST00000326053 T 0.29655 1.56 4.09 -0.874 0.10631 . 0.767073 0.11168 N 0.592343 T 0.00012 0.0000 N 0.02539 -0.55 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41395 -0.9511 9 0.02654 T 1 -1.9265 4.093 0.09978 0.0:0.2956:0.1771:0.5273 rs2653601;rs3829274;rs52796858;rs60226138;rs2653601 442 Q9NQ32 CK016_HUMAN Q 442 ENSP00000318999:R442Q ENSP00000318999:R442Q R - 2 0 C11orf16 8899518 0.000000 0.05858 0.000000 0.03702 0.018000 0.09664 -0.178000 0.09782 -0.182000 0.10602 -1.352000 0.01234 CGG NOVEL C11orf16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385626.1 0 19.160156 KEEP 0 3 83 93 3139 CC 1 1 0 - 15 60 574 0 0 36.154605 425 60 14817 642 ENST00000326053.5 0.034091 1 C11orf16 56673 __UNKNOWN__ __UNKNOWN__ 11 8947179 8947179 __UNKNOWN__ Silent SNP G G A rs2568077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:8947179G>A ENST00000326053.5 - 5 1141 c.1035C>T c.(1033-1035)gaC>gaT p.D345D C11orf16_ENST00000525780.1_Silent_p.D345D NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 345 NA p.D345D(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) TCTCCACACCGTCTTGTTCAC 0.527 NA G||| 1349 0.269369 0.1067 0.2507 5008 , , NA 22559 0.2232 NA 0.3549 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 586,3816 259.5+/-263.1 41,504,1656 109 95 99 1035 -10.2 0 11 dbSNP_100 99 3050,5542 469.2+/-367.5 544,1962,1790 no coding-synonymous C11orf16 NM_020643.2 585,2466,3446 AA,AG,GG 35.4981,13.3121,27.9821 345/468 8947179 3636,9358 2201 4296 6497 SO:0001819 synonymous_variant AJ400877 CCDS7794.1 11p15.3 2008-06-25 ENSG00000176029 ENSG00000176029 56673 1169 protein-coding gene gene with protein product NA 11528127 Standard NM_020643 NM_020643 NA Approved uc001mhb.4 Q9NQ32 OTTHUMG00000165654 ENST00000326053.5:c.1035C>T chr11.hg19:g.8947179G>A NA Q53FB2|Q8N6Y9 hg19 CCDS7794.1 0.02 13.56459 ACCxTCT COVERED NOVEL C11orf16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385626.1 1 7.394495 KEEP 0 2 67 48 1666 GG 1 1 0 - 15 60 567 0 0 37.678301 300 60 10573 417 ENST00000326053.5 0.047619 1 ASCL3 56676 __UNKNOWN__ __UNKNOWN__ 11 8959370 8959370 __UNKNOWN__ Silent SNP G G A rs2742505 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:8959370G>A ENST00000531618.1 - 1 388 c.339C>T c.(337-339)taC>taT p.Y113Y ASCL3_ENST00000325884.1_Silent_p.Y113Y Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 112 bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}. NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677) p.Y113Y(1) breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) GGAGCTGGGCGTAGCCTTCAT 0.527 NA G||| 1343 0.268171 0.1051 0.2478 5008 , , NA 18734 0.2212 NA 0.3549 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 583,3819 258.6+/-262.5 41,501,1659 82 82 82 339 -4.9 1 11 dbSNP_100 82 3030,5560 466.8+/-366.9 545,1940,1810 no coding-synonymous ASCL3 NM_020646.1 586,2441,3469 AA,AG,GG 35.2736,13.244,27.8094 113/182 8959370 3613,9379 2201 4295 6496 SO:0001819 synonymous_variant AJ400877 CCDS7795.1 11p15.3 2013-10-17 2013-10-17 ENSG00000176009 56676 Basic helix-loop-helix proteins 740 protein-coding gene gene with protein product 609154 achaete-scute complex (Drosophila) homolog-like 3, achaete-scute complex homolog 3 (Drosophila) NA 11528127 Standard NM_020646 NA Approved bHLHa42, HASH3, Sgn1 uc001mhd.1 Q9NQ33 OTTHUMG00000165679 ENST00000531618.1:c.339C>T chr11.hg19:g.8959370G>A NA Q8WYQ6 hg19 CCDS7795.1 0.02 10.716537 GGCxTAG COVERED NOVEL ASCL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385773.1 1 5.252844 KEEP 0 1 36 30 1038 GG 0.999997 0.999997 0 - 10 60 376 0 0 23.88789 255 60 9098 339 ENST00000531618.1 0.037736 1 NRIP3 56675 __UNKNOWN__ __UNKNOWN__ 11 9003953 9003953 __UNKNOWN__ 3'UTR SNP C C T rs2742471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:9003953C>T ENST00000309166.3 - 0 1978 NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 NA NA aspartic-type endopeptidase activity (GO:0004190) large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) TCTCCACCAACTGATTCTACT 0.458 NA T||| 3148 0.628594 0.5885 0.4986 5008 , , NA 20218 0.6796 NA 0.5795 False NA ,,, NA NA NA 2504 0.773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ400877 CCDS31422.1 11p15.3 2008-02-05 2003-09-03 2003-09-05 ENSG00000175352 ENSG00000175352 56675 1167 protein-coding gene gene with protein product 613125 chromosome 11 open reading frame 14 C11orf14 NA 11528127 Standard NM_020645 NM_020645 NA Approved uc001mhg.2 Q9NQ35 OTTHUMG00000165680 ENST00000309166.3:c.*1139G>A chr11.hg19:g.9003953C>T NA Q86WD9 hg19 CCDS31422.1 0.02 14.630575 CAAxTGA COVERED NOVEL NRIP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385774.1 3 8.832432 KEEP 0 3 90 61 2192 CC 1 1 0 - 13 60 479 0 0 29.420617 373 60 14056 540 ENST00000309166.3 0.033679 1 NRIP3 56675 __UNKNOWN__ __UNKNOWN__ 11 9004002 9004002 __UNKNOWN__ 3'UTR SNP C C T rs2742470 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:9004002C>T ENST00000309166.3 - 0 1929 NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 NA NA aspartic-type endopeptidase activity (GO:0004190) large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) CTCTTTTTTTCCCCCCATCTT 0.463 NA T||| 2759 0.550919 0.4508 0.4726 5008 , , NA 20686 0.6101 NA 0.5408 False NA ,,, NA NA NA 2504 0.6912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ400877 CCDS31422.1 11p15.3 2008-02-05 2003-09-03 2003-09-05 ENSG00000175352 ENSG00000175352 56675 1167 protein-coding gene gene with protein product 613125 chromosome 11 open reading frame 14 C11orf14 NA 11528127 Standard NM_020645 NM_020645 NA Approved uc001mhg.2 Q9NQ35 OTTHUMG00000165680 ENST00000309166.3:c.*1090G>A chr11.hg19:g.9004002C>T NA Q86WD9 hg19 CCDS31422.1 0.02 15.360048 TTTxCCC COVERED NOVEL NRIP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385774.1 5 12.316558 KEEP 0 3 74 67 2346 CC 1 1 0 - 13 60 488 0 0 30.219602 380 60 14107 562 ENST00000309166.3 0.033079 1 NRIP3 56675 __UNKNOWN__ __UNKNOWN__ 11 9004060 9004060 __UNKNOWN__ 3'UTR SNP T T C rs2568045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:9004060T>C ENST00000309166.3 - 0 1871 NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 NA NA aspartic-type endopeptidase activity (GO:0004190) large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) AGACACATAATAGGATGGGCA 0.438 NA T||| 2623 0.523762 0.3563 0.4597 5008 , , NA 22021 0.6101 NA 0.5388 False NA ,,, NA NA NA 2504 0.6912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ400877 CCDS31422.1 11p15.3 2008-02-05 2003-09-03 2003-09-05 ENSG00000175352 ENSG00000175352 56675 1167 protein-coding gene gene with protein product 613125 chromosome 11 open reading frame 14 C11orf14 NA 11528127 Standard NM_020645 NM_020645 NA Approved uc001mhg.2 Q9NQ35 OTTHUMG00000165680 ENST00000309166.3:c.*1032A>G chr11.hg19:g.9004060T>C NA Q86WD9 hg19 CCDS31422.1 0.02 13.2212 TAAxAGG COVERED NOVEL NRIP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385774.1 2 15.647683 KEEP 0 0 0 52 1654 TT 1 1 0 - 10 60 372 0 0 22.657819 310 60 11104 440 ENST00000309166.3 0.03125 1 SCUBE2 57758 __UNKNOWN__ __UNKNOWN__ 11 9045960 9045960 __UNKNOWN__ Intron SNP T T A rs1110216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:9045960T>A ENST00000520467.1 - 20 2754 SCUBE2_ENST00000309263.3_Intron|SCUBE2_ENST00000457346.2_Intron|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA NM_020974.2 NP_066025 Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 NA NA extracellular region (GO:0005576) calcium ion binding (GO:0005509) breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ATTTCAGGCATCTGTAGGACA 0.418 NA A||| 732 0.146166 0.1021 0.0533 5008 , , NA 22096 0.2034 NA 0.0994 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK131552 CCDS7797.1, CCDS7797.2, CCDS53599.1 11p15.4 2014-09-04 ENSG00000175356 ENSG00000175356 57758 30425 protein-coding gene gene with protein product 611747 NA 12270931, 11528127 Standard NM_020974 NM_020974 NA Approved Cegf1, Cegb1, FLJ16792 uc001mhi.2 Q9NQ36 OTTHUMG00000163880 ENST00000520467.1:c.2683+1288A>T chr11.hg19:g.9045960T>A NA Q2NKQ8|Q6ZWI1 hg19 CCDS7797.2 0.02 7.730314 GCAxCTG COVERED 270 0.12362637362637363 60 0.12195121951219512 26 0.0718232044198895 101 0.17657342657342656 83 0.10949868073878628 A 13.68 2.309762 0.40895 . . ENSG00000175356 ENST00000528651 . . . 2.75 1.61 0.23674 . . . . . . . . . . . 0.80722 P 0.0 . . . . . . . . . . . . . . 2.2683 0.04084 0.6105:0.0:0.1431:0.2464 rs1110216;rs17233006;rs1110216 . . . C 110 . . X - 3 0 SCUBE2 9002536 0.531000 0.26338 0.017000 0.16124 0.876000 0.50452 0.920000 0.28705 0.047000 0.15862 -0.257000 0.10917 TGA NOVEL SCUBE2-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000376181.1 0 13.541066 KEEP 0 0 0 45 1434 TT 1 1 0 - 11 60 377 1 0 24.270355 197 60 7224 309 ENST00000520467.1 0.052885 1 SCUBE2 57758 __UNKNOWN__ __UNKNOWN__ 11 9051406 9051406 __UNKNOWN__ Intron SNP T T C rs3751058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:9051406T>C ENST00000520467.1 - 18 2403 SCUBE2_ENST00000309263.3_Intron|SCUBE2_ENST00000457346.2_Intron|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA NM_020974.2 NP_066025 Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 NA NA extracellular region (GO:0005576) calcium ion binding (GO:0005509) breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GCCAGAACTATGAAAAGCCTT 0.473 NA T||| 668 0.133387 0.0582 0.0461 5008 , , NA 20998 0.2054 NA 0.0974 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 T , 278,4124 155.2+/-188.4 10,258,1933 146 147 146 , -1 0 11 dbSNP_107 146 887,7705 198.6+/-242.9 51,785,3460 no intron,intron SCUBE2 NM_001170690.1,NM_020974.2 , 61,1043,5393 CC,CT,TT 10.3236,6.3153,8.9657 , , 9051406 1165,11829 2201 4296 6497 SO:0001627 intron_variant AK131552 CCDS7797.1, CCDS7797.2, CCDS53599.1 11p15.4 2014-09-04 ENSG00000175356 ENSG00000175356 57758 30425 protein-coding gene gene with protein product 611747 NA 12270931, 11528127 Standard NM_020974 NM_020974 NA Approved Cegf1, Cegb1, FLJ16792 uc001mhi.2 Q9NQ36 OTTHUMG00000163880 ENST00000520467.1:c.2332+24A>G chr11.hg19:g.9051406T>C NA Q2NKQ8|Q6ZWI1 hg19 CCDS7797.2 0.02 8.085355 CTAxGAA COVERED NOVEL SCUBE2-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000376181.1 0 10.230378 KEEP 0 0 0 34 1058 TT 0.999998 0.999998 0 - 9 60 322 0 0 19.723212 238 60 8793 346 ENST00000520467.1 0.036437 1 TMEM41B 440026 __UNKNOWN__ __UNKNOWN__ 11 9305051 9305051 __UNKNOWN__ Missense_Mutation SNP T T C rs78813996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:9305051T>C ENST00000528080.1 - 7 1134 c.796A>G c.(796-798)Ata>Gta p.I266V NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 266 NA nervous system development (GO:0007399) integral component of membrane (GO:0016021) kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) AGAATAAATATTGAGTTCCAG 0.358 NA T||| 238 0.047524 0.0023 0.0288 5008 , , NA 14820 0.2123 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T VAL/ILE 9,4393 15.5+/-35.6 0,9,2192 72 69 70 796 4.8 1 11 dbSNP_131 70 6,8586 4.3+/-15.6 0,6,4290 yes missense TMEM41B NM_015012.3 29 0,15,6482 CC,CT,TT 0.0698,0.2045,0.1154 benign 266/292 9305051 15,12979 2201 4296 6497 SO:0001583 missense D26067 CCDS31424.1, CCDS53600.1 11p15.3 2008-02-05 ENSG00000166471 ENSG00000166471 440026 28948 protein-coding gene gene with protein product NA 7584026, 7584028 Standard NM_015012 NA Approved KIAA0033 uc001mhn.2 Q5BJD5 OTTHUMG00000165719 ENST00000528080.1:c.796A>G chr11.hg19:g.9305051T>C ENSP00000433126:p.Ile266Val NA D3DQU9|E9PP29|Q15055|Q4G0P0 hg19 CCDS31424.1 0.02 8.472259 ATAxTGA COVERED 133 0.060897435897435896 2 0.0040650406504065045 7 0.019337016574585635 124 0.21678321678321677 0 0.0 T 3.661 -0.069439 0.07228 0.002045 6.98E-4 ENSG00000166471 ENST00000299596;ENST00000528080 T;T 0.58060 0.36;0.36 5.76 4.85 0.62838 . 0.186565 0.47093 N 0.000255 T 0.00012 0.0000 N 0.11023 0.085 0.09310 P 1.0 B 0.02656 0.0 B 0.04013 0.001 T 0.06734 -1.0810 9 0.02654 T 1 -0.5036 11.0782 0.48045 0.0:0.7996:0.1288:0.0716 . 266 Q5BJD5 TM41B_HUMAN V 266 ENSP00000299596:I266V;ENSP00000433126:I266V ENSP00000299596:I266V I - 1 0 TMEM41B 9261627 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 4.016000 0.57159 1.417000 0.47077 -0.242000 0.12053 ATA NOVEL TMEM41B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385940.2 1 17.754223 KEEP 0 0 0 59 1871 TT 1 1 0 - 7 60 264 0 0 16.043094 230 60 8597 377 ENST00000528080.1 0.029536 1 TEAD1 7003 __UNKNOWN__ __UNKNOWN__ 11 12741542 12741542 __UNKNOWN__ Intron SNP G G T rs5018299 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:12741542G>T ENST00000527575.1 + 2 59 TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361905.4_Intron P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) NA NA gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) ttttttttttGGGGGGGGACC 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X84839 CCDS7810.1, CCDS7810.2 11p15.4 2008-11-12 ENSG00000187079 7003 11714 protein-coding gene gene with protein product 189967 atrophia areata, peripapillary chorioretinal degeneration TCF13, AA NA 1851669, 9889009, 15016762 Standard NM_021961 NM_021961 NA Approved TEF-1 uc021qdx.1 P28347 ENST00000527575.1:c.-54-44184G>T chr11.hg19:g.12741542G>T NA A4FUP2|E7EV65 hg19 0.02 -0.104478 TTTxGGG UNCOVERED NOVEL TEAD1-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000386888.1 549 3.311335 KEEP 41 1 35 28 235 GG 0 0 0 + 2 60 77 0 0 8.654119 0 0 0 557 ENST00000527575.1 1 0.162467 TEAD1 7003 __UNKNOWN__ __UNKNOWN__ 11 12741545 12741545 __UNKNOWN__ Intron SNP G G T rs5018298 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:12741545G>T ENST00000527575.1 + 2 59 TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000361905.4_Intron P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) NA NA gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) tttttttGGGGGGGGACCCAG 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X84839 CCDS7810.1, CCDS7810.2 11p15.4 2008-11-12 ENSG00000187079 7003 11714 protein-coding gene gene with protein product 189967 atrophia areata, peripapillary chorioretinal degeneration TCF13, AA NA 1851669, 9889009, 15016762 Standard NM_021961 NM_021961 NA Approved TEF-1 uc021qdx.1 P28347 ENST00000527575.1:c.-54-44181G>T chr11.hg19:g.12741545G>T NA A4FUP2|E7EV65 hg19 0.02 -0.110648 GGGxGGG UNCOVERED NOVEL TEAD1-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000386888.1 548 6.052367 KEEP 50 1 33 34 606 GG 0.99257 0.16126 0 + 2 60 75 0 0 8.454079 0 0 0 556 ENST00000527575.1 1 0.162467 PTH 5741 __UNKNOWN__ __UNKNOWN__ 11 13514053 13514053 __UNKNOWN__ Silent SNP G G T rs6256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:13514053G>T ENST00000282091.1 - 3 361 c.247C>A c.(247-249)Cga>Aga p.R83R PTH_ENST00000529816.1_Silent_p.R83R NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 83 NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|bone resorption (GO:0045453)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular macromolecule biosynthetic process (GO:0034645)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to lead ion (GO:0010288)|response to parathyroid hormone (GO:0071107)|response to vitamin D (GO:0033280)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) TCCTTTTTTCGGGGCCTCTGG 0.473 NA G||| 758 0.151358 0.0477 0.1052 5008 , , NA 17402 0.121 NA 0.171 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 G 278,4122 154.8+/-188.1 11,256,1933 104 101 102 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 247 0.6 0 11 dbSNP_52 102 1326,7262 259.9+/-283.0 96,1134,3064 no coding-synonymous PTH NM_000315.2 107,1390,4997 TT,TG,GG 15.4401,6.3182,12.3499 83/116 13514053 1604,11384 2200 4294 6494 SO:0001819 synonymous_variant J00301 CCDS7812.1 11p15.3-p15.1 2013-02-28 ENSG00000152266 5741 Endogenous ligands 9606 protein-coding gene gene with protein product parathyrin, parathormone, parathyroid hormone 1, preproparathyroid hormone, prepro-PTH 168450 NA 1672845 Standard NM_000315 NM_000315 NA Approved PTH1 uc001mlb.3 P01270 ENST00000282091.1:c.247C>A chr11.hg19:g.13514053G>T NA Q4VB48|Q9UD38 hg19 CCDS7812.1 0.02 19.406307 TTCxGGG COVERED NOVEL PTH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386198.1 4 12.036344 KEEP 0 0 0 40 1306 GG 1 1 0 - 12 60 454 0 0 26.925698 454 60 15942 586 ENST00000282091.1 0.025751 1 PLEKHA7 144100 __UNKNOWN__ __UNKNOWN__ 11 16799847 16799847 __UNKNOWN__ 3'UTR SNP T T C rs217763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:16799847T>C ENST00000531066.1 - 0 4555 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 NA NA epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915) delta-catenin binding (GO:0070097) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AAACTGCTTTTTTCTTTCTGA 0.507 NA T||| 2346 0.46845 0.3949 0.4625 5008 , , NA 19676 0.4921 NA 0.5616 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC033239 CCDS31434.1 11p15 2013-01-10 ENSG00000166689 ENSG00000166689 144100 Pleckstrin homology (PH) domain containing 27049 protein-coding gene gene with protein product 612686 NA 12477932 Standard NM_175058 NM_175058 NA Approved DKFZp686M22243 uc001mmo.3 Q6IQ23 OTTHUMG00000165954 ENST00000531066.1:c.*698A>G chr11.hg19:g.16799847T>C NA B4DK33|B4DWC3|Q86VZ7 hg19 0.02 -0.41232 TTTxTTC COVERED NOVEL PLEKHA7-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000387236.1 6 6.620273 KEEP 0 0 0 22 701 TT 0.999879 0.941627 0 - 3 60 112 0 0 7.816584 43 60 1532 85 ENST00000531066.1 0.065217 0.941741 PLEKHA7 144100 __UNKNOWN__ __UNKNOWN__ 11 16892653 16892653 __UNKNOWN__ Nonsense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:16892653G>A ENST00000531066.1 - 4 339 c.298C>T c.(298-300)Caa>Taa p.Q100* PLEKHA7_ENST00000448080.2_Nonsense_Mutation_p.Q100*|PLEKHA7_ENST00000355661.3_Nonsense_Mutation_p.Q100*|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 100 NA epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218) centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915) delta-catenin binding (GO:0070097) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TACTCTTCTTGAAGAATGAAT 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 102 99 100 NA NA 11 NA 16892653 2200 4294 6494 SO:0001587 stop_gained BC033239 CCDS31434.1 11p15 2013-01-10 ENSG00000166689 ENSG00000166689 144100 Pleckstrin homology (PH) domain containing 27049 protein-coding gene gene with protein product 612686 NA 12477932 Standard NM_175058 NM_175058 NA Approved DKFZp686M22243 uc001mmo.3 Q6IQ23 OTTHUMG00000165954 ENST00000531066.1:c.298C>T chr11.hg19:g.16892653G>A ENSP00000435389:p.Gln100* NA B4DK33|B4DWC3|Q86VZ7 hg19 0.02 12.113574 CTTxAAG COVERED . . . . . . . . . . G 37 6.002743 0.97189 . . ENSG00000166689 ENST00000531066;ENST00000355661;ENST00000448080 . . . 6.03 6.03 0.97812 . 0.272354 0.37219 N 0.002185 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.21540 T 0.41 -9.3992 17.4736 0.87653 0.0:0.0:1.0:0.0 . . . . X 100 . ENSP00000347883:Q100X Q - 1 0 PLEKHA7 16849229 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 5.762000 0.68809 2.861000 0.98227 0.655000 0.94253 CAA NOVEL PLEKHA7-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000387236.1 3 20.164247 KEEP 0 0 0 67 2298 GG 1 1 0 - 12 60 427 0 0 26.198339 309 60 11630 456 ENST00000531066.1 0.037383 1 USH1C 10083 __UNKNOWN__ __UNKNOWN__ 11 17548015 17548015 __UNKNOWN__ Intron SNP C C T rs6486378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17548015C>T ENST00000005226.7 - 8 579 USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) NA NA auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202) spectrin binding (GO:0030507) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 AGCAGAATCACGGAGTGTCCA 0.577 NA C||| 1676 0.334665 0.2761 0.3617 5008 , , NA 21092 0.506 NA 0.3161 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 C , 1296,3104 427.6+/-341.6 186,924,1090 46 37 40 , 1.8 0 11 dbSNP_116 40 2542,6044 402.7+/-347.6 390,1762,2141 no intron,intron USH1C NM_005709.3,NM_153676.3 , 576,2686,3231 TT,TC,CC 29.6063,29.4545,29.5549 , , 17548015 3838,9148 2200 4293 6493 SO:0001627 intron_variant AB006955 CCDS7825.1, CCDS31438.1, CCDS73265.1 11p14.3 2013-06-19 2004-05-19 ENSG00000006611 ENSG00000006611 10083 12597 protein-coding gene gene with protein product harmonin 605242 deafness, autosomal recessive 18 DFNB18 NA 10973247, 12107438 Standard NM_005709 NM_005709 NA Approved PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C uc001mne.3 Q9Y6N9 OTTHUMG00000166323 ENST00000005226.7:c.580-27G>A chr11.hg19:g.17548015C>T NA A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3 hg19 CCDS7825.1 0.02 11.229834 TCAxGGA COVERED NOVEL USH1C-006 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000389153.1 2 13.845013 KEEP 0 0 0 46 1621 CC 1 1 0 - 17 60 634 0 0 43.520669 269 60 9461 416 ENST00000005226.7 0.059441 1 OTOG 340990 __UNKNOWN__ __UNKNOWN__ 11 17574588 17574588 __UNKNOWN__ Intron SNP T T C rs4757543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17574588T>C ENST00000399397.1 + 4 297 OTOG_ENST00000399391.2_Intron Q6ZRI0 OTOG_HUMAN otogelin NA NA adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198) breast(3)|central_nervous_system(1)|lung(1)|skin(1) 6 CTGGATCCTGTGAAGCCTGAG 0.592 NA T||| 3333 0.665535 0.9032 0.5836 5008 , , NA 17628 0.4663 NA 0.6531 False NA ,,, NA NA NA 2504 0.6207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK128214 CCDS59225.1 11p14.3 2014-07-17 ENSG00000188162 ENSG00000188162 340990 8516 protein-coding gene gene with protein product 604487 NA 9405633 Standard NM_001277269 NA Approved mlemp, OTGN, FLJ46346 uc031pzc.1 Q6ZRI0 OTTHUMG00000149905 ENST00000399397.1:c.110-78T>C chr11.hg19:g.17574588T>C NA A8MTX6|A8MUJ0|B7WPC4 hg19 0.02 8.343016 CTGxGAA COVERED NOVEL OTOG-002 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000313844.1 1 6.619176 KEEP 0 0 0 22 670 TT 0.999879 0.999879 0 + 9 60 316 1 0 19.433116 220 60 7840 299 ENST00000399397.1 0.039301 1 OTOG 340990 __UNKNOWN__ __UNKNOWN__ 11 17593709 17593709 __UNKNOWN__ Missense_Mutation SNP T T C rs7106548|rs386751105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17593709T>C ENST00000399397.1 + 17 2043 c.1855T>C c.(1855-1857)Tct>Cct p.S619P OTOG_ENST00000399391.2_Missense_Mutation_p.S692P Q6ZRI0 OTOG_HUMAN otogelin 692 VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}. NA adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198) breast(3)|central_nervous_system(1)|lung(1)|skin(1) 6 CCCGCTGGTCTCTGGCTCCCC 0.592 NA C||| 2208 0.440895 0.6664 0.3242 5008 , , NA 16926 0.3204 NA 0.4155 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK128214 CCDS59225.1 11p14.3 2014-07-17 ENSG00000188162 ENSG00000188162 340990 8516 protein-coding gene gene with protein product 604487 NA 9405633 Standard NM_001277269 NA Approved mlemp, OTGN, FLJ46346 uc031pzc.1 Q6ZRI0 OTTHUMG00000149905 ENST00000399397.1:c.1855T>C chr11.hg19:g.17593709T>C ENSP00000382329:p.Ser619Pro NA A8MTX6|A8MUJ0|B7WPC4 hg19 0.02 9.10089 GTCxCTG COVERED 904 0.4139194139194139 327 0.6646341463414634 116 0.32044198895027626 144 0.2517482517482518 317 0.4182058047493404 C 8.490 0.861886 0.17178 . . ENSG00000188162 ENST00000399391;ENST00000399397 T;T 0.16196 2.36;2.47 5.4 -4.21 0.03812 . 1.182810 0.06452 N 0.727832 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 . . . . . . T 0.34204 -0.9838 7 0.25106 T 0.35 . 8.5735 0.33583 0.0:0.2638:0.2909:0.4453 rs7106548;rs52794588;rs60134828;rs7106548 . . . P 692;619 ENSP00000382323:S692P;ENSP00000382329:S619P ENSP00000382323:S692P S + 1 0 OTOG 17550285 0.000000 0.05858 0.003000 0.11579 0.641000 0.38312 0.032000 0.13732 -1.041000 0.03266 -0.213000 0.12676 TCT NOVEL OTOG-002 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000313844.1 0 6.319254 KEEP 0 0 0 21 667 TT 0.999869 0.999869 0 + 11 60 405 0 0 26.262726 234 60 8536 328 ENST00000399397.1 0.044898 1 OTOG 340990 __UNKNOWN__ __UNKNOWN__ 11 17612972 17612972 __UNKNOWN__ Intron SNP T T G rs720460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17612972T>G ENST00000399397.1 + 24 2872 OTOG_ENST00000342528.2_Intron|OTOG_ENST00000399391.2_Intron Q6ZRI0 OTOG_HUMAN otogelin NA NA adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198) breast(3)|central_nervous_system(1)|lung(1)|skin(1) 6 TGCCCTGTGATCTGGTCTGGG 0.567 NA G||| 1842 0.367812 0.5257 0.2392 5008 , , NA 20864 0.3254 NA 0.334 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK128214 CCDS59225.1 11p14.3 2014-07-17 ENSG00000188162 ENSG00000188162 340990 8516 protein-coding gene gene with protein product 604487 NA 9405633 Standard NM_001277269 NA Approved mlemp, OTGN, FLJ46346 uc031pzc.1 Q6ZRI0 OTTHUMG00000149905 ENST00000399397.1:c.2685-25T>G chr11.hg19:g.17612972T>G NA A8MTX6|A8MUJ0|B7WPC4 hg19 0.02 6.379047 TGAxCTG COVERED NOVEL OTOG-002 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000313844.1 0 7.222228 KEEP 0 0 0 24 767 TT 0.999931 0.999931 0 + 6 60 221 0 0 13.375766 186 60 6670 252 ENST00000399397.1 0.03125 1 KCNC1 3746 __UNKNOWN__ __UNKNOWN__ 11 17795089 17795089 __UNKNOWN__ Intron SNP G G A rs72632993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17795089G>A ENST00000265969.6 + 2 2695 KCNC1_ENST00000379472.3_3'UTR NM_001112741.1 NP_001106212.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 Dalfampridine(DB06637) CCACTTTCCCGTGAATTCACT 0.537 NA G||| 152 0.0303514 0.0272 0.0072 5008 , , NA 15366 0.0863 NA 0.002 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96747 CCDS7827.1, CCDS44547.1 11p15 2012-07-05 ENSG00000129159 ENSG00000129159 3746 Potassium channels, Voltage-gated ion channels / Potassium channels 6233 protein-coding gene gene with protein product 176258 NA 8449507, 16382104 Standard NM_004976 NM_004976 NA Approved Kv3.1 uc009yhc.1 P48547 OTTHUMG00000166359 ENST00000265969.6:c.1504+944G>A chr11.hg19:g.17795089G>A NA K4DI87 hg19 CCDS44547.1 0.02 10.598774 CCCxTGA COVERED NOVEL KCNC1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389388.1 2 6.620961 KEEP 0 0 0 22 739 GG 0.999879 0.999879 0 + 8 60 288 0 0 17.021782 259 60 9012 332 ENST00000265969.6 0.029963 1 KCNC1 3746 __UNKNOWN__ __UNKNOWN__ 11 17796471 17796471 __UNKNOWN__ Intron SNP G G A rs72632994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17796471G>A ENST00000525802.1 + 1 280 KCNC1_ENST00000379472.3_3'UTR|KCNC1_ENST00000265969.6_Intron P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 Dalfampridine(DB06637) AAAAGCTGGCGTGTGAGACCC 0.582 NA G||| 199 0.0397364 0.0363 0.0245 5008 , , NA 17223 0.1032 NA 0.002 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96747 CCDS7827.1, CCDS44547.1 11p15 2012-07-05 ENSG00000129159 ENSG00000129159 3746 Potassium channels, Voltage-gated ion channels / Potassium channels 6233 protein-coding gene gene with protein product 176258 NA 8449507, 16382104 Standard NM_004976 NM_004976 NA Approved Kv3.1 uc009yhc.1 P48547 OTTHUMG00000166359 ENST00000525802.1:c.280+1094G>A chr11.hg19:g.17796471G>A NA K4DI87 hg19 0.02 11.079297 GGCxTGT COVERED NOVEL KCNC1-004 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000389390.1 2 8.124311 KEEP 0 0 0 27 897 GG 0.999988 0.999988 0 + 12 60 433 0 0 27.758228 257 60 9073 360 ENST00000525802.1 0.04461 1 KCNC1 3746 __UNKNOWN__ __UNKNOWN__ 11 17801220 17801220 __UNKNOWN__ 3'UTR SNP A A G rs16934718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17801220A>G ENST00000525802.1 + 0 498 KCNC1_ENST00000265969.6_Intron P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249) breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 Dalfampridine(DB06637) AGCACCGTGCATCGTCCGGGC 0.662 NA A||| 414 0.0826677 0.0386 0.0865 5008 , , NA 15575 0.1776 NA 0.004 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 A 39,1345 2,35,655 41 35 37 4.5 1 11 dbSNP_123 37 26,3156 0,26,1565 no intron KCNC1 NM_001112741.1 2,61,2220 GG,GA,AA 0.8171,2.8179,1.4236 17801220 65,4501 692 1591 2283 SO:0001624 3_prime_UTR_variant M96747 CCDS7827.1, CCDS44547.1 11p15 2012-07-05 ENSG00000129159 ENSG00000129159 3746 Potassium channels, Voltage-gated ion channels / Potassium channels 6233 protein-coding gene gene with protein product 176258 NA 8449507, 16382104 Standard NM_004976 NM_004976 NA Approved Kv3.1 uc009yhc.1 P48547 OTTHUMG00000166359 ENST00000525802.1:c.*495A>G chr11.hg19:g.17801220A>G NA K4DI87 hg19 0.02 4.493517 TGCxTCG COVERED NOVEL KCNC1-004 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000389390.1 0 3.605673 KEEP 0 0 0 12 341 AA 0.993634 0.993628 0 + 5 60 176 0 0 11.121121 107 60 3784 147 ENST00000525802.1 0.044643 0.999995 SERGEF 26297 __UNKNOWN__ __UNKNOWN__ 11 17948311 17948311 __UNKNOWN__ Intron SNP T T C rs1468291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:17948311T>C ENST00000265965.5 - 9 1163 SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor NA NA negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634) Ran guanyl-nucleotide exchange factor activity (GO:0005087) autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 AAGACTATCTTGATGCAGAAT 0.473 NA T||| 1607 0.320887 0.115 0.4207 5008 , , NA 20742 0.5069 NA 0.3966 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243950 CCDS7828.1 11p14.3 2006-03-09 ENSG00000129158 ENSG00000129158 26297 17499 protein-coding gene gene with protein product 606051 NA 10571079, 12459492 Standard NM_012139 NM_012139 NA Approved DelGEF, Gnefr uc001mnm.3 Q9UGK8 OTTHUMG00000166420 ENST00000265965.5:c.1011+32705A>G chr11.hg19:g.17948311T>C NA Q9UGK9 hg19 CCDS7828.1 0.02 6.136357 TCTxGAT COVERED NOVEL SERGEF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389538.1 1 13.540116 KEEP 0 0 0 45 1410 TT 1 1 0 - 10 60 304 0 0 18.118888 187 60 6818 304 ENST00000265965.5 0.050761 1 TPH1 7166 __UNKNOWN__ __UNKNOWN__ 11 18039560 18039560 __UNKNOWN__ 3'UTR SNP G G A rs10832872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18039560G>A ENST00000250018.2 - 0 4875 RP1-59M18.2_ENST00000525523.1_RNA NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 NA NA aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|neuron projection (GO:0043005) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) gatcacctgcggtcagaagtt 0.502 NA g||| 1464 0.292332 0.0416 0.366 5008 , , NA 14893 0.4921 NA 0.3936 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X52836 CCDS7829.1 11p15.3-p14 2012-10-02 2008-07-31 2003-04-04 ENSG00000129167 ENSG00000129167 7166 1.14.16.4 12008 protein-coding gene gene with protein product tryptophan 5-monooxygenase 191060 tryptophan hydroxylase (tryptophan 5-monooxygenase) TPRH, TPH NA 1463016 Standard NM_004179 NM_004179 NA Approved uc001mnp.2 P17752 OTTHUMG00000166421 ENST00000250018.2:c.*2978C>T chr11.hg19:g.18039560G>A NA D3DQX6|O95188|O95189|Q16736|Q3KPG8 hg19 CCDS7829.1 0.02 -0.429818 TGCxGTC COVERED NOVEL TPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389696.1 4 6.911251 KEEP 0 0 0 23 749 GG 0.999892 0.954388 0 - 4 60 150 0 0 10.893042 45 60 1510 79 ENST00000250018.2 0.081633 0.954491 TPH1 7166 __UNKNOWN__ __UNKNOWN__ 11 18040596 18040596 __UNKNOWN__ 3'UTR SNP T T C rs2108977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18040596T>C ENST00000250018.2 - 0 3839 RP1-59M18.2_ENST00000525523.1_RNA NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 NA NA aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|neuron projection (GO:0043005) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) CAAATGATTCTAGATTAGCTA 0.259 NA N||| 2189 0.437101 0.1823 0.5115 5008 , , NA 15171 0.5843 NA 0.5706 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X52836 CCDS7829.1 11p15.3-p14 2012-10-02 2008-07-31 2003-04-04 ENSG00000129167 ENSG00000129167 7166 1.14.16.4 12008 protein-coding gene gene with protein product tryptophan 5-monooxygenase 191060 tryptophan hydroxylase (tryptophan 5-monooxygenase) TPRH, TPH NA 1463016 Standard NM_004179 NM_004179 NA Approved uc001mnp.2 P17752 OTTHUMG00000166421 ENST00000250018.2:c.*1942A>G chr11.hg19:g.18040596T>C NA D3DQX6|O95188|O95189|Q16736|Q3KPG8 hg19 CCDS7829.1 0.02 6.540603 TTCxAGA COVERED NOVEL TPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389696.1 0 8.692552 KEEP 0 0 0 29 909 TT 0.999997 0.999997 0 - 7 60 266 0 0 17.025227 177 60 6454 272 ENST00000250018.2 0.038043 1 TPH1 7166 __UNKNOWN__ __UNKNOWN__ 11 18047255 18047255 __UNKNOWN__ Intron SNP G G T rs1799913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18047255G>T ENST00000250018.2 - 7 1366 TPH1_ENST00000341556.2_Intron NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 NA NA aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|neuron projection (GO:0043005) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510) p.?(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) ATCTCTGAAAGAGAGGTACAA 0.408 NA T||| 1608 0.321086 0.1626 0.3718 5008 , , NA 19568 0.4752 NA 0.3907 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 1 Unknown(1) stomach(1) T 802,3598 749.9+/-412.1 81,640,1479 65 65 65 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 0.2 0.4 11 dbSNP_89 65 3299,5287 645.6+/-400.2 641,2017,1635 no intron TPH1 NM_004179.2 722,2657,3114 TT,TG,GG 38.423,18.2273,31.5802 18047255 4101,8885 2200 4293 6493 SO:0001627 intron_variant X52836 CCDS7829.1 11p15.3-p14 2012-10-02 2008-07-31 2003-04-04 ENSG00000129167 ENSG00000129167 7166 1.14.16.4 12008 protein-coding gene gene with protein product tryptophan 5-monooxygenase 191060 tryptophan hydroxylase (tryptophan 5-monooxygenase) TPRH, TPH NA 1463016 Standard NM_004179 NM_004179 NA Approved uc001mnp.2 P17752 OTTHUMG00000166421 ENST00000250018.2:c.804-7C>A chr11.hg19:g.18047255G>T NA D3DQX6|O95188|O95189|Q16736|Q3KPG8 hg19 CCDS7829.1 0.02 6.584122 AAAxAGA COVERED NOVEL TPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389696.1 1 11.737038 KEEP 0 0 0 39 1350 GG 1 1 0 - 8 60 298 0 0 19.408237 172 60 6449 253 ENST00000250018.2 0.044444 1 TPH1 7166 __UNKNOWN__ __UNKNOWN__ 11 18054777 18054777 __UNKNOWN__ Intron SNP A A G rs10832874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18054777A>G ENST00000250018.2 - 3 965 TPH1_ENST00000341556.2_Intron NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 NA NA aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|neuron projection (GO:0043005) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) tccagtctggacagcagagca 0.473 NA A||| 1456 0.290735 0.0416 0.3689 5008 , , NA 14755 0.4802 NA 0.3926 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 A 443,3957 204.1+/-226.4 29,385,1786 54 56 56 -0.4 0.1 11 dbSNP_120 56 3303,5283 481.2+/-370.6 643,2017,1633 no intron TPH1 NM_004179.2 672,2402,3419 GG,GA,AA 38.4696,10.0682,28.8465 18054777 3746,9240 2200 4293 6493 SO:0001627 intron_variant X52836 CCDS7829.1 11p15.3-p14 2012-10-02 2008-07-31 2003-04-04 ENSG00000129167 ENSG00000129167 7166 1.14.16.4 12008 protein-coding gene gene with protein product tryptophan 5-monooxygenase 191060 tryptophan hydroxylase (tryptophan 5-monooxygenase) TPRH, TPH NA 1463016 Standard NM_004179 NM_004179 NA Approved uc001mnp.2 P17752 OTTHUMG00000166421 ENST00000250018.2:c.402+43T>C chr11.hg19:g.18054777A>G NA D3DQX6|O95188|O95189|Q16736|Q3KPG8 hg19 CCDS7829.1 0.02 -0.324593 TGGxCAG COVERED NOVEL TPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389696.1 2 4.814236 KEEP 0 0 0 16 510 AA 0.997832 0.833904 0 - 3 60 111 0 0 8.010457 34 60 1206 59 ENST00000250018.2 0.081081 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 18063977 18063977 __UNKNOWN__ IGR SNP A A T rs623580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18063977A>T NA NA TPH1 (1105 upstream) : SAAL1 (37861 downstream) NA NA NA CGTTGTCCTAAAGCGTGAAAA 0.318 NA T||| 3037 0.60643 0.6513 0.5793 5008 , , NA 18146 0.6528 NA 0.662 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.18063977A>T NA hg19 0.02 19.907755 CTAxAGC COVERED NOVEL 0 3 15.781964 KEEP 0 1 30 63 1993 AA 1 1 0 17 60 634 0 0 40.027849 437 60 15880 650 0.037445 1 SAA4 6291 __UNKNOWN__ __UNKNOWN__ 11 18254053 18254053 __UNKNOWN__ Nonsense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18254053C>T ENST00000278222.4 - 3 299 c.119G>A c.(118-120)tGg>tAg p.W40* SAA2-SAA4_ENST00000524555.1_RNA NM_006512.3 NP_006503.2 P35542 SAA4_HUMAN serum amyloid A4, constitutive 40 NA acute-phase response (GO:0006953) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1) 13 CATTATGTCCCAATAGGCTCT 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 147 145 146 NA NA 11 NA 18254053 2199 4293 6492 SO:0001587 stop_gained M81349 CCDS7832.1 11p15.1-p14 2008-07-21 ENSG00000148965 ENSG00000148965 6291 10516 protein-coding gene gene with protein product 104752 NA 8325654 Standard NM_006512 NM_006512 NA Approved C-SAA, CSAA P35542 OTTHUMG00000166483 ENST00000278222.4:c.119G>A chr11.hg19:g.18254053C>T ENSP00000278222:p.Trp40* NA Q6FHJ4 hg19 CCDS7832.1 0.02 8.809413 TCCxAAT COVERED . . . . . . . . . . C 16.66 3.186324 0.57909 . . ENSG00000148965 ENST00000278222 . . . 3.73 1.63 0.23807 . . . . . . . . . . . 0.80722 A 1 . . . . . . . . . . 0.34782 T 0.22 -7.4203 6.3065 0.21141 0.21:0.5859:0.204:0.0 . . . . X 40 . ENSP00000278222:W40X W - 2 0 SAA4 18210629 0.000000 0.05858 0.003000 0.11579 0.005000 0.04900 -1.940000 0.01543 0.518000 0.28383 0.467000 0.42956 TGG NOVEL SAA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389988.1 0 3.912324 KEEP 0 0 0 13 442 CC 0.994391 0.994391 0 - 11 60 373 0 0 23.827859 199 60 7636 273 ENST00000278222.4 0.052381 1 LDHA 3939 __UNKNOWN__ __UNKNOWN__ 11 18429071 18429071 __UNKNOWN__ 3'UTR SNP C C G rs76818137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18429071C>G ENST00000422447.3 + 0 1515 LDHA_ENST00000396222.2_3'UTR|LDHA_ENST00000430553.2_3'UTR|LDHA_ENST00000540430.1_3'UTR|LDHA_ENST00000379412.5_3'UTR|LDHA_ENST00000227157.4_3'UTR NM_001135239.1|NM_005566.3 NP_001128711.1|NP_005557.1 P00338 LDHA_HUMAN lactate dehydrogenase A NA NA cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686) L-lactate dehydrogenase activity (GO:0004459) central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4) 12 ATAGTTCTGCCACCTCTGACG 0.433 NA C||| 32 0.00638978 0.0 0.0 5008 , , NA 20315 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X02152 CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1 11p15.1 2012-10-02 ENSG00000134333 ENSG00000134333 3939 1.1.1.27 6535 protein-coding gene gene with protein product 150000 NA 3000353 Standard NM_005566 NM_005566 NA Approved uc010rdd.2 P00338 OTTHUMG00000167721 ENST00000422447.3:c.*243C>G chr11.hg19:g.18429071C>G NA B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9 hg19 CCDS7839.1 0.02 26.070192 TGCxACC COVERED NOVEL LDHA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258172.2 2 32.459705 KEEP 0 0 0 108 3778 CC 1 1 0 + 27 60 937 0 0 58.093187 621 60 22751 910 ENST00000422447.3 0.041667 1 SPTY2D1 144108 __UNKNOWN__ __UNKNOWN__ 11 18632984 18632984 __UNKNOWN__ Intron SNP T T C rs10128711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18632984T>C ENST00000336349.5 - 5 2200 NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) NA NA breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 AAGGAATTTTTAGGACATTTT 0.413 NA T||| 2349 0.46905 0.1188 0.6527 5008 , , NA 18566 0.4911 NA 0.7167 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 T 928,3468 332.0+/-302.3 96,736,1366 158 140 146 http://www.ncbi.nlm.nih.gov/pubmed?term 1.5 0 11 dbSNP_119 146 6327,2259 695.6+/-404.8 2326,1675,292 yes intron SPTY2D1 NM_194285.2 2422,2411,1658 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 26.3103,21.1101,44.1149 18632984 7255,5727 2198 4293 6491 SO:0001627 intron_variant BX647798 CCDS31441.1 11p15.1 2005-10-28 ENSG00000179119 ENSG00000179119 144108 26818 protein-coding gene gene with protein product NA Standard NM_194285 NM_194285 NA Approved FLJ39441, DKFZp686I068 uc001moy.3 Q68D10 OTTHUMG00000167733 ENST00000336349.5:c.1964+39A>G chr11.hg19:g.18632984T>C NA Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3 hg19 CCDS31441.1 0.02 9.300578 TTTxAGG COVERED NOVEL SPTY2D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395941.1 4 16.88071 KEEP 0 1 37 69 2082 TT 1 1 0 - 12 60 467 0 0 31.628298 233 60 8408 382 ENST00000336349.5 0.04898 1 SPTY2D1 144108 __UNKNOWN__ __UNKNOWN__ 11 18656062 18656062 __UNKNOWN__ Intron SNP G G C rs7943121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18656062G>C ENST00000543776.1 - 1 102 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) NA NA breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GTACAAACGTGATACGTGGCT 0.637 NA G||| 2351 0.469449 0.1195 0.6542 5008 , , NA 16198 0.4911 NA 0.7167 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647798 CCDS31441.1 11p15.1 2005-10-28 ENSG00000179119 ENSG00000179119 144108 26818 protein-coding gene gene with protein product NA Standard NM_194285 NM_194285 NA Approved FLJ39441, DKFZp686I068 uc001moy.3 Q68D10 OTTHUMG00000167733 ENST00000543776.1:c.441+174C>G chr11.hg19:g.18656062G>C NA Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3 hg19 0.02 4.784954 CGTxATA COVERED NOVEL SPTY2D1-005 KNOWN mRNA_end_NF|basic processed_transcript NA protein_coding OTTHUMT00000395945.1 0 26.183187 KEEP 0 0 0 87 3030 GG 1 1 0 - 11 60 409 0 0 29.175102 136 60 5146 325 ENST00000543776.1 0.07483 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 18977616 18977616 __UNKNOWN__ IGR SNP T T C rs1973235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18977616T>C NA NA RP11-583F24.8 (16348 upstream) : MRGPRX2 (98385 downstream) NA NA NA ATCTGCTTCCTGACAGCTCCA 0.527 NA C||| 2137 0.426717 0.4002 0.2954 5008 , , NA 18846 0.499 NA 0.4095 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.18977616T>C NA hg19 0.02 6.933403 TCCxGAC COVERED NOVEL 0 1 5.115859 KEEP 0 0 0 17 547 TT 0.999366 0.999366 0 7 60 241 0 0 14.914875 156 60 5785 213 0.042945 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 18977660 18977660 __UNKNOWN__ IGR SNP T T C rs1973234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18977660T>C NA NA RP11-583F24.8 (16392 upstream) : MRGPRX2 (98341 downstream) NA NA NA CCACCTTCATTCACCTCAGTC 0.532 NA C||| 1795 0.358427 0.1551 0.2723 5008 , , NA 18974 0.499 NA 0.4085 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.18977660T>C NA hg19 0.02 2.227607 CATxCAC COVERED NOVEL 0 1 2.708477 KEEP 0 0 0 9 293 TT 0.99254 0.992489 0 4 60 154 0 0 10.052941 94 60 3342 119 0.040816 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 18978096 18978096 __UNKNOWN__ IGR SNP C C T rs10833023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:18978096C>T NA NA RP11-583F24.8 (16828 upstream) : MRGPRX2 (97905 downstream) NA NA NA CACTCCAGGACGCTCCGCAGC 0.542 NA T||| 1797 0.358826 0.1558 0.2723 5008 , , NA 19437 0.5 NA 0.4085 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.18978096C>T NA hg19 0.02 4.138813 GGAxGCT COVERED NOVEL 0 1 4.950416 KEEP 0 1 30 27 935 CC 0.999997 0.999997 0 5 60 189 0 0 11.905511 136 60 4675 203 0.035461 1 NAV2 89797 __UNKNOWN__ __UNKNOWN__ 11 20077364 20077364 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:20077364G>A ENST00000360655.4 + 19 4729 c.4500G>A c.(4498-4500)ctG>ctA p.L1500L NAV2_ENST00000396085.1_Silent_p.L1564L|NAV2_ENST00000311043.8_Silent_p.L628L|NAV2_ENST00000396087.3_Silent_p.L1587L|NAV2_ENST00000533917.1_Silent_p.L628L|NAV2_ENST00000349880.4_Silent_p.L1564L|NAV2_ENST00000527559.2_Silent_p.L1516L|NAV2_ENST00000540292.1_Silent_p.L1518L NM_001111018.1 NP_001104488.1 Q8IVL1 NAV2_HUMAN neuron navigator 2 1587 Ser-rich. NA glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564) interstitial matrix (GO:0005614)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CGACCATGCTGAGGACTCACA 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 129 108 115 NA NA 11 NA 20077364 2203 4300 6503 SO:0001819 synonymous_variant AB037840 CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1 11p15.1 2008-07-18 ENSG00000166833 ENSG00000166833 89797 3.6.1.1 15997 protein-coding gene gene with protein product pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1 607026 NA 12079279, 12062803 Standard NM_145117 NM_145117 NA Approved FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707 uc010rdm.2 Q8IVL1 OTTHUMG00000151837 ENST00000360655.4:c.4500G>A chr11.hg19:g.20077364G>A NA A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8 hg19 CCDS53612.1 0.02 6.029154 GCTxAGG COVERED NOVEL NAV2-008 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389876.1 2 13.77895 KEEP 0 1 29 56 1975 GG 1 1 0 + 6 60 210 0 0 12.523073 169 60 6539 286 ENST00000360655.4 0.034286 1 NAV2 89797 __UNKNOWN__ __UNKNOWN__ 11 20139665 20139665 __UNKNOWN__ Intron SNP C C T rs79039837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:20139665C>T ENST00000360655.4 + 38 7201 NAV2_ENST00000396085.1_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000396087.3_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000527559.2_Intron|NAV2_ENST00000540292.1_Intron NM_001111018.1 NP_001104488.1 Q8IVL1 NAV2_HUMAN neuron navigator 2 NA NA glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564) interstitial matrix (GO:0005614)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CATGCTTCTCCACTCTTCCCC 0.562 NA C||| 158 0.0315495 0.0023 0.0029 5008 , , NA 18322 0.1409 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C ,,, 8,4398 14.3+/-33.2 0,8,2195 76 73 74 ,,, -2.3 0 11 dbSNP_131 74 2,8598 2.2+/-6.3 0,2,4298 no intron,intron,intron,intron NAV2 NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5 ,,, 0,10,6493 TT,TC,CC 0.0233,0.1816,0.0769 ,,, ,,, 20139665 10,12996 2203 4300 6503 SO:0001627 intron_variant AB037840 CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1 11p15.1 2008-07-18 ENSG00000166833 ENSG00000166833 89797 3.6.1.1 15997 protein-coding gene gene with protein product pore membrane and/or filament interacting like protein 2, retinoic acid inducible gene in neuroblastoma 1, helicase, APC down-regulated 1 607026 NA 12079279, 12062803 Standard NM_145117 NM_145117 NA Approved FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707 uc010rdm.2 Q8IVL1 OTTHUMG00000151837 ENST00000360655.4:c.6973-14C>T chr11.hg19:g.20139665C>T NA A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8 hg19 CCDS53612.1 0.02 13.575353 CTCxACT COVERED NOVEL NAV2-008 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389876.1 0 18.058481 KEEP 0 0 0 60 2124 CC 1 1 0 + 13 60 482 0 0 30.725882 311 60 11615 493 ENST00000360655.4 0.040123 1 HTATIP2 10553 __UNKNOWN__ __UNKNOWN__ 11 20405135 20405135 __UNKNOWN__ 3'UTR SNP C C T rs16906210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:20405135C>T ENST00000451739.2 + 0 1554 HTATIP2_ENST00000531058.1_3'UTR|HTATIP2_ENST00000419348.2_3'UTR NM_001098522.1 NP_001091992.1 HIV-1 Tat interactive protein 2, 30kDa NA NA large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ACCTTATGACCGTGCAAATGA 0.443 NA C||| 761 0.151957 0.2693 0.0836 5008 , , NA 18225 0.2956 NA 0.0089 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF039103 CCDS7852.1, CCDS44553.1, CCDS53613.1 11p15.1 2011-09-14 2002-08-29 ENSG00000109854 ENSG00000109854 10553 1.1.1.- Short chain dehydrogenase/reductase superfamily / Atypical members 16637 protein-coding gene gene with protein product Tat-interacting protein (30kD), short chain dehydrogenase/reductase family 44U, member 1 605628 HIV-1 Tat interactive protein 2, 30 kDa NA 9482853, 9174052, 19027726 Standard NM_001098521 NM_006410 NA Approved TIP30, CC3, FLJ26963, SDR44U1 uc001mpx.2 Q9BUP3 OTTHUMG00000166015 ENST00000451739.2:c.*384C>T chr11.hg19:g.20405135C>T NA hg19 CCDS7852.1 0.02 2.285525 GACxGTG COVERED NOVEL HTATIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387445.2 0 6.017799 KEEP 0 0 0 20 661 CC 0.999863 0.999081 0 + 6 60 230 0 0 16.609256 74 60 2583 121 ENST00000451739.2 0.075 0.999218 NELL1 4745 __UNKNOWN__ __UNKNOWN__ 11 20959394 20959394 __UNKNOWN__ Missense_Mutation SNP C C T rs8176786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:20959394C>T ENST00000357134.5 + 10 1212 c.1060C>T c.(1060-1062)Cgg>Tgg p.R354W NELL1_ENST00000325319.5_Missense_Mutation_p.R297W|NELL1_ENST00000532434.1_Missense_Mutation_p.R354W|NELL1_ENST00000298925.5_Missense_Mutation_p.R382W NM_006157.3|NM_201551.1 NP_006148.2|NP_963845.1 Q92832 NELL1_HUMAN NEL-like 1 (chicken) 354 NA R -> W (in dbSNP:rs8176786). cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 CAAGAGCTGTCGGGAATGCCG 0.408 NA C||| 191 0.038139 0.0023 0.0173 5008 , , NA 19629 0.0903 NA 0.0547 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 GRCh37 CM074382 NELL1 M rs8176786 C TRP/ARG,TRP/ARG 38,4368 43.1+/-76.7 0,38,2165 102 99 100 1060,1060 4.3 1 11 dbSNP_117 100 436,8164 133.0+/-190.5 14,408,3878 yes missense,missense NELL1 NM_006157.3,NM_201551.1 101,101 14,446,6043 TT,TC,CC 5.0698,0.8625,3.6445 benign,benign 354/811,354/764 20959394 474,12532 2203 4300 6503 SO:0001583 missense AK127805 CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1 11p15.1 2008-02-01 2001-11-28 ENSG00000165973 ENSG00000165973 4745 7750 protein-coding gene gene with protein product 602319 nel (chicken)-like 1 NA 8975702 Standard NM_006157 NM_006157 NA Approved IDH3GL, FLJ45906 uc001mqe.3 Q92832 OTTHUMG00000166042 ENST00000357134.5:c.1060C>T chr11.hg19:g.20959394C>T ENSP00000349654:p.Arg354Trp NA B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472 hg19 CCDS7855.1 0.02 11.294319 TGTxGGG COVERED 111 0.050824175824175824 3 0.006097560975609756 8 0.022099447513812154 55 0.09615384615384616 45 0.059366754617414245 C 12.86 2.065168 0.36470 0.008625 0.050698 ENSG00000165973 ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434 T;T;T;T 0.65916 -0.18;-0.18;-0.18;-0.18 5.18 4.26 0.50523 von Willebrand factor, type C (1); 0.063063 0.64402 D 0.000011 T 0.03871 0.0109 L 0.60455 1.87 0.44985 D 0.998009 D;B;B;B 0.63880 0.993;0.002;0.135;0.0 P;B;B;B 0.48795 0.59;0.0;0.022;0.0 T 0.02358 -1.1171 10 0.36615 T 0.2 -9.3669 13.1551 0.59511 0.3507:0.6493:0.0:0.0 rs8176786;rs52793881;rs61117161;rs8176786 297;382;354;354 F5H6I3;B3KXR2;Q92832-2;Q92832 .;.;.;NELL1_HUMAN W 382;354;297;354 ENSP00000298925:R382W;ENSP00000349654:R354W;ENSP00000317837:R297W;ENSP00000437170:R354W ENSP00000298925:R382W R + 1 2 NELL1 20915970 1.000000 0.71417 0.998000 0.56505 0.994000 0.84299 1.631000 0.37092 1.166000 0.42689 0.561000 0.74099 CGG NOVEL NELL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387588.1 2 8.726809 KEEP 0 0 0 29 964 CC 0.999997 0.999997 0 + 12 60 454 0 0 29.432087 278 60 9734 387 ENST00000357134.5 0.041379 1 ANO5 203859 __UNKNOWN__ __UNKNOWN__ 11 22261069 22261069 __UNKNOWN__ Intron SNP G G T rs76657996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:22261069G>T ENST00000324559.8 + 9 1079 NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982) intracellular calcium activated chloride channel activity (GO:0005229) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTTCGTCTTTGTCTTTTGCTT 0.348 NA G||| 307 0.0613019 0.0 0.0029 5008 , , NA 15837 0.2212 NA 0.004 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G , 13,4393 15.5+/-35.6 0,13,2190 76 78 78 , -1.5 0 11 dbSNP_131 78 31,8569 16.0+/-53.3 0,31,4269 no intron,intron ANO5 NM_001142649.1,NM_213599.2 , 0,44,6459 TT,TG,GG 0.3605,0.2951,0.3383 , , 22261069 44,12962 2203 4300 6503 SO:0001627 intron_variant AL833271 CCDS31444.1 11p15.1 2014-09-17 2008-08-28 2008-08-28 ENSG00000171714 ENSG00000171714 203859 Ion channels / Chloride channels : Calcium activated : Anoctamins 27337 protein-coding gene gene with protein product 608662 transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive) TMEM16E, LGMD2L NA 15067359, 20096397, 24692353 Standard NM_213599 NM_213599 NA Approved GDD1 uc001mqi.2 Q75V66 OTTHUMG00000166051 ENST00000324559.8:c.763-46G>T chr11.hg19:g.22261069G>T NA hg19 CCDS31444.1 0.02 10.158346 TTTxTCT COVERED NOVEL ANO5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387615.1 2 9.02991 KEEP 0 0 0 30 1103 GG 0.999997 0.999997 0 + 18 60 639 0 0 43.397856 265 60 10135 375 ENST00000324559.8 0.063604 1 ANO5 203859 __UNKNOWN__ __UNKNOWN__ 11 22302740 22302740 __UNKNOWN__ 3'UTR SNP A A G rs78143145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:22302740A>G ENST00000324559.8 + 0 4488 NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982) intracellular calcium activated chloride channel activity (GO:0005229) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CACCTCCAAAAGAATAGTTTT 0.254 NA A||| 336 0.0670927 0.0 0.0043 5008 , , NA 15337 0.2242 NA 0.003 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL833271 CCDS31444.1 11p15.1 2014-09-17 2008-08-28 2008-08-28 ENSG00000171714 ENSG00000171714 203859 Ion channels / Chloride channels : Calcium activated : Anoctamins 27337 protein-coding gene gene with protein product 608662 transmembrane protein 16E, limb girdle muscular dystrophy 2L (autosomal recessive) TMEM16E, LGMD2L NA 15067359, 20096397, 24692353 Standard NM_213599 NM_213599 NA Approved GDD1 uc001mqi.2 Q75V66 OTTHUMG00000166051 ENST00000324559.8:c.*1429A>G chr11.hg19:g.22302740A>G NA hg19 CCDS31444.1 0.02 1.863074 AAAxGAA COVERED NOVEL ANO5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387615.1 2 6.319316 KEEP 0 0 0 21 665 AA 0.999869 0.999776 0 + 6 60 217 0 0 14.875039 88 60 3286 144 ENST00000324559.8 0.06383 0.999907 LUZP2 338645 __UNKNOWN__ __UNKNOWN__ 11 24998286 24998286 __UNKNOWN__ Intron SNP T T C rs75340045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:24998286T>C ENST00000336930.6 + 8 663 LUZP2_ENST00000533227.1_Intron Q86TE4 LUZP2_HUMAN leucine zipper protein 2 NA NA extracellular region (GO:0005576) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 aGTTAAAGTATGCTCATTGCT 0.303 NA T||| 111 0.0221645 0.0 0.0144 5008 , , NA 12751 0.0923 NA 0.006 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832641 CCDS31446.1, CCDS58128.1 11p14.3 2005-09-18 ENSG00000187398 ENSG00000187398 338645 23206 protein-coding gene gene with protein product 608178 NA 12856284 Standard NM_001009909 NM_001009909 NA Approved uc001mqs.3 Q86TE4 OTTHUMG00000166109 ENST00000336930.6:c.597+75T>C chr11.hg19:g.24998286T>C NA A2RUB8|E9PN53|Q6UXE7|Q6ZS65 hg19 CCDS31446.1 0.02 3.423706 GTAxGCT COVERED NOVEL LUZP2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387861.1 0 10.195954 KEEP 0 0 0 34 1052 TT 0.999998 0.999998 0 + 5 60 169 0 0 10.647473 96 60 3522 187 ENST00000336930.6 0.049505 1 ANO3 63982 __UNKNOWN__ __UNKNOWN__ 11 26558947 26558947 __UNKNOWN__ Intron SNP T T C rs3802751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26558947T>C ENST00000256737.3 + 10 1828 ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTTCTTCTCTTTGCAGGTATC 0.343 NA T||| 85 0.0169728 0.0 0.0029 5008 , , NA 21099 0.0764 NA 0.005 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T 5,4401 9.9+/-24.2 0,5,2198 158 150 153 0.6 0.9 11 dbSNP_107 153 11,8589 8.4+/-32.0 0,11,4289 no intron ANO3 NM_031418.2 0,16,6487 CC,CT,TT 0.1279,0.1135,0.123 26558947 16,12990 2203 4300 6503 SO:0001627 intron_variant AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982 Ion channels / Chloride channels : Calcium activated : Anoctamins 14004 protein-coding gene gene with protein product transmembrane protein 16C (eight membrane-spanning domains) 610110 chromosome 11 open reading frame 25, transmembrane protein 16C C11orf25, TMEM16C NA 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 NA Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.977-6T>C chr11.hg19:g.26558947T>C NA B7Z3F5 hg19 CCDS31447.1 0.02 11.922294 TCTxTGC COVERED NOVEL ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387806.1 0 9.026708 KEEP 0 0 0 30 955 TT 0.999997 0.999997 0 + 8 60 312 0 0 19.467438 255 60 9174 355 ENST00000256737.3 0.030418 1 ANO3 63982 __UNKNOWN__ __UNKNOWN__ 11 26619872 26619872 __UNKNOWN__ Intron SNP T T C rs7112022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26619872T>C ENST00000256737.3 + 15 2299 ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AGCAATATGATGTGATTTGGG 0.264 NA T||| 1566 0.3127 0.2209 0.2118 5008 , , NA 14130 0.3562 NA 0.325 False NA ,,, NA NA NA 2504 0.4509 NA NA NA NA 0 T 970,3422 104,762,1330 32 35 34 -3.2 0 11 dbSNP_116 34 2821,5775 464,1893,1941 no intron ANO3 NM_031418.2 568,2655,3271 CC,CT,TT 32.8176,22.0856,29.1885 26619872 3791,9197 2196 4298 6494 SO:0001627 intron_variant AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982 Ion channels / Chloride channels : Calcium activated : Anoctamins 14004 protein-coding gene gene with protein product transmembrane protein 16C (eight membrane-spanning domains) 610110 chromosome 11 open reading frame 25, transmembrane protein 16C C11orf25, TMEM16C NA 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 NA Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.1448-40T>C chr11.hg19:g.26619872T>C NA B7Z3F5 hg19 CCDS31447.1 0.02 1.719499 TGAxGTG COVERED NOVEL ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387806.1 0 2.70727 KEEP 0 0 0 9 260 TT 0.99254 0.992496 0 + 10 60 358 0 0 26.502128 89 60 3204 114 ENST00000256737.3 0.10101 0.999956 ANO3 63982 __UNKNOWN__ __UNKNOWN__ 11 26656563 26656563 __UNKNOWN__ Silent SNP C C T rs7946841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26656563C>T ENST00000256737.3 + 20 2841 c.1989C>T c.(1987-1989)ttC>ttT p.F663F ANO3_ENST00000531568.1_Silent_p.F517F|ANO3_ENST00000537978.1_Silent_p.F647F|ANO3_ENST00000525139.1_Silent_p.F647F NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 663 NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 CTTACAGATTCGTAGGCCACC 0.433 NA C||| 1709 0.341254 0.2277 0.2507 5008 , , NA 18554 0.3552 NA 0.4165 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 C 1032,3374 381.8+/-324.2 112,808,1283 134 121 125 1989 1.3 1 11 dbSNP_116 125 3589,5009 519.7+/-379.5 735,2119,1445 no coding-synonymous ANO3 NM_031418.2 847,2927,2728 TT,TC,CC 41.7423,23.4226,35.5352 663/982 26656563 4621,8383 2203 4299 6502 SO:0001819 synonymous_variant AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982 Ion channels / Chloride channels : Calcium activated : Anoctamins 14004 protein-coding gene gene with protein product transmembrane protein 16C (eight membrane-spanning domains) 610110 chromosome 11 open reading frame 25, transmembrane protein 16C C11orf25, TMEM16C NA 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 NA Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.1989C>T chr11.hg19:g.26656563C>T NA B7Z3F5 hg19 CCDS31447.1 0.02 6.106069 ATTxGTA COVERED NOVEL ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387806.1 0 5.717664 KEEP 0 0 0 19 626 CC 0.99986 0.99986 0 + 7 60 252 0 0 15.561758 181 60 6300 234 ENST00000256737.3 0.037234 1 ANO3 63982 __UNKNOWN__ __UNKNOWN__ 11 26663394 26663394 __UNKNOWN__ Intron SNP A A G rs10835040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26663394A>G ENST00000256737.3 + 22 2993 ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 ATTGTTAACCAGATGCTTGAA 0.368 NA G||| 1774 0.354233 0.2277 0.2723 5008 , , NA 16044 0.3552 NA 0.4523 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 G 1069,3337 722.2+/-409.3 119,831,1253 68 67 67 -4.9 0 11 dbSNP_120 67 3977,4621 600.5+/-394.2 924,2129,1246 no intron ANO3 NM_031418.2 1043,2960,2499 GG,GA,AA 46.2549,24.2624,38.8034 26663394 5046,7958 2203 4299 6502 SO:0001627 intron_variant AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982 Ion channels / Chloride channels : Calcium activated : Anoctamins 14004 protein-coding gene gene with protein product transmembrane protein 16C (eight membrane-spanning domains) 610110 chromosome 11 open reading frame 25, transmembrane protein 16C C11orf25, TMEM16C NA 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 NA Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.2142-49A>G chr11.hg19:g.26663394A>G NA B7Z3F5 hg19 CCDS31447.1 0.02 7.242865 ACCxGAT COVERED NOVEL ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387806.1 2 6.017891 KEEP 0 0 0 20 645 AA 0.999863 0.999863 0 + 10 60 324 0 0 19.129285 231 60 8512 298 ENST00000256737.3 0.041494 1 ANO3 63982 __UNKNOWN__ __UNKNOWN__ 11 26684617 26684617 __UNKNOWN__ 3'UTR SNP G G T rs3550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26684617G>T ENST00000256737.3 + 0 6424 NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 NA NA calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phospholipid scramblase activity (GO:0017128) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 AGCTTTCACTGTACAATGTGT 0.358 NA G||| 1443 0.288139 0.0265 0.2392 5008 , , NA 17975 0.3552 NA 0.4304 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ300461 CCDS31447.1 11p14.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000134343 ENSG00000134343 63982 Ion channels / Chloride channels : Calcium activated : Anoctamins 14004 protein-coding gene gene with protein product transmembrane protein 16C (eight membrane-spanning domains) 610110 chromosome 11 open reading frame 25, transmembrane protein 16C C11orf25, TMEM16C NA 12739008, 15067359, 23200863, 24692353 Standard NM_031418 NM_031418 NA Approved GENX-3947, DYT23 uc001mqt.4 Q9BYT9 OTTHUMG00000166096 ENST00000256737.3:c.*2626G>T chr11.hg19:g.26684617G>T NA B7Z3F5 hg19 CCDS31447.1 0.02 9.516531 ACTxTAC COVERED NOVEL ANO3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387806.1 0 6.922611 KEEP 0 0 0 23 823 GG 0.999892 0.999892 0 + 17 60 627 0 0 45.217456 192 60 7292 282 ENST00000256737.3 0.08134 1 SLC5A12 159963 __UNKNOWN__ __UNKNOWN__ 11 26690902 26690902 __UNKNOWN__ 3'UTR SNP A A G rs1135507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26690902A>G ENST00000396005.3 - 0 3913 NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 NA NA sodium ion transport (GO:0006814) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TTGGAAAATAATTGCACCTCT 0.294 NA A||| 2100 0.419329 0.2572 0.4741 5008 , , NA 14043 0.3859 NA 0.5239 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC049207 CCDS7860.2 11p14.2 2013-07-19 2013-07-19 ENSG00000148942 ENSG00000148942 159963 Solute carriers 28750 protein-coding gene gene with protein product 612455 solute carrier family 5 (sodium/glucose cotransporter), member 12 NA 12477932 Standard NM_178498 NM_178498 NA Approved MGC52019, SMCT2 uc001mra.2 Q1EHB4 OTTHUMG00000150706 ENST00000396005.3:c.*1747T>C chr11.hg19:g.26690902A>G NA Q86UC7 hg19 CCDS7860.2 0.02 6.962441 ATAxTTG COVERED NOVEL SLC5A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319681.1 5 7.222178 KEEP 0 0 0 24 798 AA 0.999909 0.999909 0 - 12 60 461 0 0 32.958657 159 60 5704 220 ENST00000396005.3 0.070175 1 SLC5A12 159963 __UNKNOWN__ __UNKNOWN__ 11 26690948 26690948 __UNKNOWN__ 3'UTR SNP C C T rs1135506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26690948C>T ENST00000396005.3 - 0 3867 NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 NA NA sodium ion transport (GO:0006814) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GCTTAATTAGCGTTGCCAGAC 0.328 NA C||| 2068 0.412939 0.2322 0.4697 5008 , , NA 14481 0.3849 NA 0.5268 False NA ,,, NA NA NA 2504 0.5286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC049207 CCDS7860.2 11p14.2 2013-07-19 2013-07-19 ENSG00000148942 ENSG00000148942 159963 Solute carriers 28750 protein-coding gene gene with protein product 612455 solute carrier family 5 (sodium/glucose cotransporter), member 12 NA 12477932 Standard NM_178498 NM_178498 NA Approved MGC52019, SMCT2 uc001mra.2 Q1EHB4 OTTHUMG00000150706 ENST00000396005.3:c.*1701G>A chr11.hg19:g.26690948C>T NA Q86UC7 hg19 CCDS7860.2 0.02 8.801088 TAGxGTT COVERED NOVEL SLC5A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319681.1 1 10.533792 KEEP 0 0 0 35 1216 CC 0.999999 0.999999 0 - 13 60 467 0 0 31.710983 198 60 7158 311 ENST00000396005.3 0.061611 1 SLC5A12 159963 __UNKNOWN__ __UNKNOWN__ 11 26691317 26691317 __UNKNOWN__ 3'UTR SNP T T G rs4615979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26691317T>G ENST00000396005.3 - 0 3498 NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 NA NA sodium ion transport (GO:0006814) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 ACCTTTGGATTTCCTTATCCT 0.313 NA T||| 1735 0.346446 0.236 0.2608 5008 , , NA 17415 0.3532 NA 0.4314 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC049207 CCDS7860.2 11p14.2 2013-07-19 2013-07-19 ENSG00000148942 ENSG00000148942 159963 Solute carriers 28750 protein-coding gene gene with protein product 612455 solute carrier family 5 (sodium/glucose cotransporter), member 12 NA 12477932 Standard NM_178498 NM_178498 NA Approved MGC52019, SMCT2 uc001mra.2 Q1EHB4 OTTHUMG00000150706 ENST00000396005.3:c.*1332A>C chr11.hg19:g.26691317T>G NA Q86UC7 hg19 CCDS7860.2 0.02 12.846791 GATxTCC COVERED NOVEL SLC5A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319681.1 1 7.355717 KEEP 0 1 36 37 1165 TT 1 1 0 - 21 60 819 0 0 60.198422 240 60 8749 378 ENST00000396005.3 0.08046 1 SLC5A12 159963 __UNKNOWN__ __UNKNOWN__ 11 26692265 26692265 __UNKNOWN__ 3'UTR SNP G G A rs10835055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26692265G>A ENST00000396005.3 - 0 2550 NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 NA NA sodium ion transport (GO:0006814) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TCTGTTTCCCGTTCTGCCTCT 0.368 NA G||| 1662 0.331869 0.1808 0.2565 5008 , , NA 18692 0.3562 NA 0.4314 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC049207 CCDS7860.2 11p14.2 2013-07-19 2013-07-19 ENSG00000148942 ENSG00000148942 159963 Solute carriers 28750 protein-coding gene gene with protein product 612455 solute carrier family 5 (sodium/glucose cotransporter), member 12 NA 12477932 Standard NM_178498 NM_178498 NA Approved MGC52019, SMCT2 uc001mra.2 Q1EHB4 OTTHUMG00000150706 ENST00000396005.3:c.*384C>T chr11.hg19:g.26692265G>A NA Q86UC7 hg19 CCDS7860.2 0.02 2.015576 CCCxTTC COVERED NOVEL SLC5A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319681.1 0 3.310465 KEEP 0 0 0 11 371 GG 0.993072 0.992842 0 - 6 60 221 1 0 15.452993 82 60 2977 125 ENST00000396005.3 0.068182 0.999768 SLC5A12 159963 __UNKNOWN__ __UNKNOWN__ 11 26692435 26692435 __UNKNOWN__ 3'UTR SNP T T C rs11029666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26692435T>C ENST00000396005.3 - 0 2380 NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 NA NA sodium ion transport (GO:0006814) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 AGCAGGTTGGTTTTTCTCTGT 0.388 NA T||| 1854 0.370208 0.2753 0.2853 5008 , , NA 18853 0.3532 NA 0.4672 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC049207 CCDS7860.2 11p14.2 2013-07-19 2013-07-19 ENSG00000148942 ENSG00000148942 159963 Solute carriers 28750 protein-coding gene gene with protein product 612455 solute carrier family 5 (sodium/glucose cotransporter), member 12 NA 12477932 Standard NM_178498 NM_178498 NA Approved MGC52019, SMCT2 uc001mra.2 Q1EHB4 OTTHUMG00000150706 ENST00000396005.3:c.*214A>G chr11.hg19:g.26692435T>C NA Q86UC7 hg19 CCDS7860.2 0.02 2.412281 TGGxTTT COVERED NOVEL SLC5A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319681.1 5 4.814918 KEEP 0 0 0 16 524 TT 0.997832 0.996701 0 - 4 60 155 0 0 10.583849 73 60 2556 120 ENST00000396005.3 0.051948 0.998867 SLC5A12 159963 __UNKNOWN__ __UNKNOWN__ 11 26694979 26694979 __UNKNOWN__ Silent SNP A A G rs4369354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:26694979A>G ENST00000396005.3 - 14 1986 c.1677T>C c.(1675-1677)tgT>tgC p.C559C NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 559 NA sodium ion transport (GO:0006814) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) symporter activity (GO:0015293) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GCTGAACTCCACACCAGCATA 0.408 NA G||| 2118 0.422923 0.4448 0.3127 5008 , , NA 19336 0.3502 NA 0.4881 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 G 1797,2329 404,989,670 142 145 144 1677 1.9 1 11 dbSNP_111 144 4258,4184 1086,2086,1049 no coding-synonymous SLC5A12 NM_178498.3 1490,3075,1719 GG,GA,AA 49.5617,43.5531,48.1779 559/619 26694979 6055,6513 2063 4221 6284 SO:0001819 synonymous_variant BC049207 CCDS7860.2 11p14.2 2013-07-19 2013-07-19 ENSG00000148942 ENSG00000148942 159963 Solute carriers 28750 protein-coding gene gene with protein product 612455 solute carrier family 5 (sodium/glucose cotransporter), member 12 NA 12477932 Standard NM_178498 NM_178498 NA Approved MGC52019, SMCT2 uc001mra.2 Q1EHB4 OTTHUMG00000150706 ENST00000396005.3:c.1677T>C chr11.hg19:g.26694979A>G NA Q86UC7 hg19 CCDS7860.2 0.02 14.729416 TCCxCAC COVERED NOVEL SLC5A12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319681.1 0 15.646261 KEEP 0 0 0 52 1655 AA 1 1 0 - 27 60 1000 0 0 72.307427 303 60 10956 498 ENST00000396005.3 0.081818 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 28042135 28042135 __UNKNOWN__ IGR SNP A A T rs12273631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:28042135A>T NA NA RP11-406D1.2 (1013 upstream) : KIF18A (31 downstream) NA NA NA TTAGAGTATGAAAGGGGTAGT 0.373 NA T||| 1999 0.399161 0.643 0.2046 5008 , , NA 10618 0.4792 NA 0.2962 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.28042135A>T NA hg19 0.02 4.278909 ATGxAAG COVERED NOVEL 0 0 3.91206 KEEP 0 0 0 13 423 AA 0.994391 0.99439 0 8 60 288 0 0 19.710339 117 60 4157 160 0.064 0.999999 KIF18A 81930 __UNKNOWN__ __UNKNOWN__ 11 28057957 28057957 __UNKNOWN__ Missense_Mutation SNP T T C rs10458896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:28057957T>C ENST00000263181.6 - 14 2493 c.2203A>G c.(2203-2205)Atc>Gtc p.I735V NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 735 NA I -> V (in dbSNP:rs10458896). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15878648}. antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726) actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTTGAGCTGATAGCCTGAAAA 0.363 NA T||| 1990 0.397364 0.6384 0.2046 5008 , , NA 17315 0.4762 NA 0.2962 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 T VAL/ILE 2631,1773 642.2+/-397.6 781,1069,352 140 139 140 2203 0.2 0 11 dbSNP_119 140 2507,6089 410.1+/-350.0 352,1803,2143 yes missense KIF18A NM_031217.3 29 1133,2872,2495 CC,CT,TT 29.1647,40.2589,39.5231 benign 735/899 28057957 5138,7862 2202 4298 6500 SO:0001583 missense AL136819 CCDS7867.1 11p14.1 2014-06-12 ENSG00000121621 ENSG00000121621 81930 Kinesins 29441 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 99 611271 NA 11230166 Standard NM_031217 NM_031217 NA Approved DKFZP434G2226, PPP1R99 uc001msc.2 Q8NI77 OTTHUMG00000166195 ENST00000263181.6:c.2203A>G chr11.hg19:g.28057957T>C ENSP00000263181:p.Ile735Val NA Q4VPE3|Q86VS5|Q9H0F3 hg19 CCDS7867.1 0.02 9.626581 TGAxAGC COVERED 874 0.4001831501831502 306 0.6219512195121951 88 0.2430939226519337 264 0.46153846153846156 216 0.2849604221635884 T 0.008 -1.916505 0.00503 0.597411 0.291647 ENSG00000121621 ENST00000263181 T 0.70516 -0.49 5.3 0.187 0.15109 . 1.461270 0.04163 N 0.323394 T 0.00012 0.0000 L 0.40543 1.245 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.40646 -0.9552 9 0.08179 T 0.78 . 8.3793 0.32461 0.0:0.3327:0.0:0.6673 rs10458896;rs17846441;rs17859490;rs52792047;rs60178096;rs10458896 735 Q8NI77 KI18A_HUMAN V 735 ENSP00000263181:I735V ENSP00000263181:I735V I - 1 0 KIF18A 28014533 0.000000 0.05858 0.000000 0.03702 0.454000 0.32378 -0.358000 0.07641 -0.144000 0.11314 -0.408000 0.06270 ATC NOVEL KIF18A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388328.3 1 6.317699 KEEP 0 0 0 21 628 TT 0.999869 0.999869 0 - 10 60 387 0 0 25.387172 232 60 8501 298 ENST00000263181.6 0.041322 1 KIF18A 81930 __UNKNOWN__ __UNKNOWN__ 11 28083890 28083890 __UNKNOWN__ Intron SNP G G T rs11030202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:28083890G>T ENST00000263181.6 - 12 2003 NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726) actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTGAACTTCTGTGCTTCAGAT 0.358 NA G||| 818 0.163339 0.1649 0.036 5008 , , NA 15952 0.3978 NA 0.0487 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 G 263,1487 16,231,628 83 78 80 1.6 0 11 dbSNP_120 80 183,3797 4,175,1811 no intron KIF18A NM_031217.3 20,406,2439 TT,TG,GG 4.598,15.0286,7.7836 28083890 446,5284 875 1990 2865 SO:0001627 intron_variant AL136819 CCDS7867.1 11p14.1 2014-06-12 ENSG00000121621 ENSG00000121621 81930 Kinesins 29441 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 99 611271 NA 11230166 Standard NM_031217 NM_031217 NA Approved DKFZP434G2226, PPP1R99 uc001msc.2 Q8NI77 OTTHUMG00000166195 ENST00000263181.6:c.1712+51C>A chr11.hg19:g.28083890G>T NA Q4VPE3|Q86VS5|Q9H0F3 hg19 CCDS7867.1 0.02 1.60779 TCTxTGC COVERED NOVEL KIF18A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388328.3 0 4.213785 KEEP 0 0 0 14 499 GG 0.995343 0.995148 0 - 4 60 142 0 0 9.024784 85 60 3230 119 ENST00000263181.6 0.044944 0.999804 KIF18A 81930 __UNKNOWN__ __UNKNOWN__ 11 28110151 28110151 __UNKNOWN__ Missense_Mutation SNP T T C rs12272419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:28110151T>C ENST00000263181.6 - 6 1107 c.817A>G c.(817-819)Acc>Gcc p.T273A NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 273 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. NA T -> A (in dbSNP:rs12272419). antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031) caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726) actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 ACAAATCGGGTCCCCTTAGCA 0.408 NA T||| 817 0.163139 0.1634 0.036 5008 , , NA 13741 0.3988 NA 0.0487 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 T ALA/THR 662,3742 282.5+/-276.6 46,570,1586 119 104 109 817 -2.4 0 11 dbSNP_120 109 366,8232 120.8+/-180.0 11,344,3944 yes missense KIF18A NM_031217.3 58 57,914,5530 CC,CT,TT 4.2568,15.0318,7.9065 benign 273/899 28110151 1028,11974 2202 4299 6501 SO:0001583 missense AL136819 CCDS7867.1 11p14.1 2014-06-12 ENSG00000121621 ENSG00000121621 81930 Kinesins 29441 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 99 611271 NA 11230166 Standard NM_031217 NM_031217 NA Approved DKFZP434G2226, PPP1R99 uc001msc.2 Q8NI77 OTTHUMG00000166195 ENST00000263181.6:c.817A>G chr11.hg19:g.28110151T>C ENSP00000263181:p.Thr273Ala NA Q4VPE3|Q86VS5|Q9H0F3 hg19 CCDS7867.1 0.02 19.510777 GGGxCCC COVERED 351 0.16071428571428573 92 0.18699186991869918 11 0.03038674033149171 212 0.3706293706293706 36 0.047493403693931395 T 3.916 -0.019155 0.07634 0.150318 0.042568 ENSG00000121621 ENST00000263181 T 0.74526 -0.85 5.76 -2.37 0.06643 Kinesin, motor domain (4); 0.479567 0.24445 N 0.038465 T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.37407 -0.9707 9 0.18710 T 0.47 . 7.9495 0.30006 0.1411:0.5734:0.0:0.2855 rs12272419;rs52792944;rs57364126;rs12272419 273 Q8NI77 KI18A_HUMAN A 273 ENSP00000263181:T273A ENSP00000263181:T273A T - 1 0 KIF18A 28066727 0.034000 0.19679 0.000000 0.03702 0.876000 0.50452 0.934000 0.28910 -0.427000 0.07350 0.482000 0.46254 ACC NOVEL KIF18A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388328.3 2 19.551424 KEEP 0 0 0 65 1980 TT 1 1 0 - 24 60 885 0 0 60.044135 408 60 14526 641 ENST00000263181.6 0.055556 1 METTL15 196074 __UNKNOWN__ __UNKNOWN__ 11 28353382 28353382 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:28353382A>G ENST00000407364.3 + 0 2570 METTL15_ENST00000342303.5_3'UTR|METTL15_ENST00000303459.6_3'UTR|METTL15_ENST00000406787.3_3'UTR A6NJ78 MET15_HUMAN methyltransferase like 15 NA NA methyltransferase activity (GO:0008168) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 14 ATTTATACTTAAATTGTGACC 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832668 CCDS31450.1, CCDS44559.1, CCDS73269.1 11p14.1 2011-03-02 2011-03-02 2011-03-02 ENSG00000169519 ENSG00000169519 196074 26606 protein-coding gene gene with protein product methyltransferase 5 domain containing 1 METT5D1 NA 12477932 Standard NM_152636 NM_152636 NA Approved FLJ33979 uc001msh.2 A6NJ78 OTTHUMG00000150448 ENST00000407364.3:c.*994A>G chr11.hg19:g.28353382A>G NA A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7 hg19 CCDS44559.1 0.02 6.01506 CTTxAAT COVERED NOVEL METTL15-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318135.2 3 7.8225 KEEP 3 0 0 26 801 AA 0.999957 0.999957 0 + 6 27 210 0 0 12.342732 182 60 6487 246 ENST00000407364.3 0.031915 1 ARL14EP 120534 __UNKNOWN__ __UNKNOWN__ 11 30351223 30351223 __UNKNOWN__ Intron SNP A A G rs7927974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:30351223A>G ENST00000282032.3 + 2 152 NM_152316.1 NP_689529.1 Q8N8R7 AL14E_HUMAN ADP-ribosylation factor-like 14 effector protein NA NA cytoplasm (GO:0005737) NA cctaggaactatgggggaaac 0.323 NA A||| 2179 0.435104 0.4584 0.2939 5008 , , NA 16858 0.6042 NA 0.3062 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK096287 CCDS7869.1 11p14.1 2014-09-17 2012-07-09 2012-07-09 ENSG00000152219 ENSG00000152219 120534 26798 protein-coding gene gene with protein product 612295 chromosome 11 open reading frame 46 C11orf46 NA 21458045 Standard NM_152316 XM_005252792 NA Approved FLJ38968, ARF7EP uc001mso.1 Q8N8R7 OTTHUMG00000166154 ENST00000282032.3:c.-63-1210A>G chr11.hg19:g.30351223A>G NA Q5HYH9 hg19 CCDS7869.1 0.02 13.955016 ACTxTGG COVERED NOVEL ARL14EP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388129.1 5 15.809156 KEEP 0 2 76 79 2408 AA 1 1 0 + 16 60 588 0 0 38.233428 334 60 12058 521 ENST00000282032.3 0.045714 1 ARL14EP 120534 __UNKNOWN__ __UNKNOWN__ 11 30359558 30359558 __UNKNOWN__ 3'UTR SNP T T A rs1063960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:30359558T>A ENST00000282032.3 + 0 2214 NM_152316.1 NP_689529.1 Q8N8R7 AL14E_HUMAN ADP-ribosylation factor-like 14 effector protein NA NA cytoplasm (GO:0005737) NA tccctattgattattaagatt 0.343 NA T||| 1273 0.254193 0.0295 0.1931 5008 , , NA 1144 0.6012 NA 0.2028 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096287 CCDS7869.1 11p14.1 2014-09-17 2012-07-09 2012-07-09 ENSG00000152219 ENSG00000152219 120534 26798 protein-coding gene gene with protein product 612295 chromosome 11 open reading frame 46 C11orf46 NA 21458045 Standard NM_152316 XM_005252792 NA Approved FLJ38968, ARF7EP uc001mso.1 Q8N8R7 OTTHUMG00000166154 ENST00000282032.3:c.*1216T>A chr11.hg19:g.30359558T>A NA Q5HYH9 hg19 CCDS7869.1 0.02 6.284571 TGAxTAT COVERED NOVEL ARL14EP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388129.1 1 9.625964 KEEP 0 0 0 32 969 TT 0.999997 0.999997 0 + 14 60 505 0 0 35.81974 166 60 6049 247 ENST00000282032.3 0.077778 1 RCN1 5954 __UNKNOWN__ __UNKNOWN__ 11 32124579 32124579 __UNKNOWN__ Intron SNP C C T rs223060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:32124579C>T ENST00000054950.3 + 5 981 RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Intron NM_002901.2 NP_002892.1 Q15293 RCN1_HUMAN reticulocalbin 1, EF-hand calcium binding domain NA NA camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788) calcium ion binding (GO:0005509) breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6) 17 Lung SC(675;0.225) agtcactgaactaagtcaaaa 0.368 NA .||| 940 0.1877 0.1157 0.1816 5008 , , NA 19711 0.2837 NA 0.173 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D42073 CCDS7876.1 11p13 2013-01-10 ENSG00000049449 ENSG00000049449 5954 EF-hand domain containing 9934 protein-coding gene gene with protein product proliferation-inducing gene 20 602735 RCN NA 9192846, 8586628 Standard NM_002901 NM_002901 NA Approved Rcal, PIG20, FLJ37041 uc010reb.2 Q15293 ENST00000054950.3:c.689-248C>T chr11.hg19:g.32124579C>T NA B7Z1M1|D3DR00 hg19 CCDS7876.1 0.02 13.244497 GAAxTAA COVERED NOVEL RCN1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388510.1 1 13.917456 KEEP 0 2 68 70 2569 CC 1 1 0 + 14 60 505 0 0 31.854869 326 60 12302 521 ENST00000054950.3 0.041176 1 WT1-AS 51352 __UNKNOWN__ __UNKNOWN__ 11 32460624 32460624 __UNKNOWN__ RNA SNP G G C rs3087923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:32460624G>C ENST00000395900.1 + 0 1502 WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA NR_023920.1 Q06250 WIT1_HUMAN WT1 antisense RNA NA NA endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 6 CGCGGAGCTGGGCTGCTACAG 0.627 NA G||| 1403 0.280152 0.4569 0.2651 5008 , , NA 14123 0.2282 NA 0.2018 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 G 1735,2661 352,1031,815 25 24 24 0.7 0 11 dbSNP_102 24 1570,7022 155,1260,2881 no intergenic 507,2291,3696 CC,CG,GG 18.2728,39.4677,25.4466 32460624 3305,9683 2198 4296 6494 BC002734 11p13 2012-10-19 2012-08-15 2012-01-25 ENSG00000183242 ENSG00000183242 51352 Long non-coding RNAs, - 18135 non-coding RNA RNA, long non-coding Wilms tumor associated protein 607899 Wilms tumor upstream neighbor 1, WT1 antisense RNA (non-protein coding) WIT1 NA 2173145, 8406502, 17210670 Standard NR_023920 NR_120546 NA Approved WIT-1, WT1AS, WT1-AS1 uc010red.2 Q06250 OTTHUMG00000039557 ENST00000395900.1: chr11.hg19:g.32460624G>C NA Q4KMY0|Q96A27 hg19 0.02 4.263552 CTGxGCT COVERED NOVEL WT1-AS-001 KNOWN basic antisense NA antisense OTTHUMT00000095437.1 2 11.746638 KEEP 0 3 106 76 2696 GG 1 0.999981 0 + 8 60 274 0 0 18.973384 96 60 3547 243 ENST00000395900.1 0.076923 0.999981 EIF3M 10480 __UNKNOWN__ __UNKNOWN__ 11 32625110 32625110 __UNKNOWN__ 3'UTR SNP A A G rs2450409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:32625110A>G ENST00000531120.1 + 0 2353 CCDC73_ENST00000335185.5_Intron NM_006360.4 NP_006351.2 eukaryotic translation initiation factor 3, subunit M NA NA breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) TGATCATTCTATAGAATTTTA 0.308 NA A||| 819 0.163538 0.1278 0.2003 5008 , , NA 15145 0.0665 NA 0.2813 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131064 CCDS7880.1 11p13 2012-12-13 2007-07-27 2007-07-27 ENSG00000149100 ENSG00000149100 10480 24460 protein-coding gene gene with protein product transport and golgi organization 7 homolog (Drosophila) 609641 PCI domain containing 1 (herpesvirus entry mediator) PCID1 NA 15919898, 15919899 Standard NM_006360 NM_006360 NA Approved hfl-B5, FLJ29030, GA17, eIF3m, TANGO7 uc001mtu.4 Q7L2H7 OTTHUMG00000166258 ENST00000531120.1:c.*1165A>G chr11.hg19:g.32625110A>G NA hg19 CCDS7880.1 0.02 8.372959 TCTxTAG COVERED NOVEL EIF3M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388762.2 0 6.787774 KEEP 0 2 73 48 1432 AA 1 1 0 + 8 60 286 0 0 17.787272 195 60 6946 298 ENST00000531120.1 0.039409 1 EIF3M 10480 __UNKNOWN__ __UNKNOWN__ 11 32626331 32626331 __UNKNOWN__ 3'UTR SNP A A G rs201895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:32626331A>G ENST00000531120.1 + 0 3574 CCDC73_ENST00000335185.5_Intron NM_006360.4 NP_006351.2 eukaryotic translation initiation factor 3, subunit M NA NA breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 Breast(20;0.109) atcttTTTCAATTTGACCAGT 0.303 NA A||| 936 0.186901 0.2133 0.2061 5008 , , NA 18446 0.0665 NA 0.2813 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131064 CCDS7880.1 11p13 2012-12-13 2007-07-27 2007-07-27 ENSG00000149100 ENSG00000149100 10480 24460 protein-coding gene gene with protein product transport and golgi organization 7 homolog (Drosophila) 609641 PCI domain containing 1 (herpesvirus entry mediator) PCID1 NA 15919898, 15919899 Standard NM_006360 NM_006360 NA Approved hfl-B5, FLJ29030, GA17, eIF3m, TANGO7 uc001mtu.4 Q7L2H7 OTTHUMG00000166258 ENST00000531120.1:c.*2386A>G chr11.hg19:g.32626331A>G NA hg19 CCDS7880.1 0.02 4.871285 TCAxTTT COVERED NOVEL EIF3M-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388762.2 2 5.415378 KEEP 0 0 0 18 553 AA 0.999859 0.999837 0 + 7 60 257 0 0 17.934656 96 60 3584 142 ENST00000531120.1 0.067961 0.999978 CCDC73 493860 __UNKNOWN__ __UNKNOWN__ 11 32674627 32674627 __UNKNOWN__ Intron SNP A A G rs172101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:32674627A>G ENST00000335185.5 - 12 983 CCDC73_ENST00000534415.1_Intron NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 NA NA NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AATATACTAAAACacagatag 0.313 NA A||| 1812 0.361821 0.4856 0.3199 5008 , , NA 16381 0.1696 NA 0.4473 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 A 1722,1942 428,866,538 82 75 77 0.8 0 11 dbSNP_79 77 3469,4693 762,1945,1374 no intron CCDC73 NM_001008391.2 1190,2811,1912 GG,GA,AA 42.5018,46.9978,43.8948 32674627 5191,6635 1832 4081 5913 SO:0001627 intron_variant AK128159 CCDS41630.1 11p13 2006-02-11 ENSG00000186714 ENSG00000186714 493860 23261 protein-coding gene gene with protein product 612328 NA Standard NM_001008391 NM_001008391 NA Approved NY-SAR-79 uc001mtv.4 Q6ZRK6 OTTHUMG00000166279 ENST00000335185.5:c.939+41T>C chr11.hg19:g.32674627A>G NA Q6P5Q7|Q6ZMW0|Q86WE7 hg19 CCDS41630.1 0.02 6.317502 TAAxACA COVERED NOVEL CCDC73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388874.2 0 4.212434 KEEP 0 0 0 14 437 AA 0.995343 0.995343 0 - 9 60 343 0 0 22.677929 190 60 6779 233 ENST00000335185.5 0.045226 1 CSTF3 1479 __UNKNOWN__ __UNKNOWN__ 11 33182941 33182941 __UNKNOWN__ 5'UTR SNP A A G rs117854987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33182941A>G ENST00000323959.4 - 0 70 CSTF3_ENST00000524827.1_5'UTR|CSTF3_ENST00000438862.2_5'UTR|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000431742.2_5'UTR NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 TAAACTAAAAACCACCCCCAA 0.522 NA OREG0020867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 74 0.0147764 0.0 0.0173 5008 , , NA 17429 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 37 35 36 NA NA 11 NA 33182941 692 1591 2283 SO:0001623 5_prime_UTR_variant U15782 CCDS7883.1, CCDS44563.1, CCDS44564.1 11p13 2007-01-05 2002-08-29 ENSG00000176102 ENSG00000176102 1479 2485 protein-coding gene gene with protein product 600367 cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD NA 7984242 Standard NM_001326 XM_006718154 NA Approved CstF-77 uc001muh.3 Q12996 OTTHUMG00000166268 ENST00000323959.4:c.-70T>C chr11.hg19:g.33182941A>G 838 A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4 hg19 CCDS7883.1 0.02 26.445838 AAAxCCA COVERED NOVEL CSTF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388801.1 3 113.111216 KEEP 0 0 0 376 11442 AA 1 1 0 - 18 60 636 0 0 37.230969 622 60 21422 1313 ENST00000323959.4 0.028125 1 KIAA1549L 25758 __UNKNOWN__ __UNKNOWN__ 11 33604960 33604960 __UNKNOWN__ Silent SNP C C T rs2273115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33604960C>T ENST00000321505.4 + 10 3768 c.3588C>T c.(3586-3588)atC>atT p.I1196I KIAA1549L_ENST00000389726.3_Silent_p.I1202I|KIAA1549L_ENST00000265654.5_Silent_p.I1202I Q6ZVL6 K154L_HUMAN KIAA1549-like 1196 Poly-Ile. NA integral component of membrane (GO:0016021) NA TCACGGTCATCATCATCATCA 0.547 NA C||| 888 0.177316 0.0166 0.2334 5008 , , NA 21311 0.3591 NA 0.2187 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 C 180,4112 5,170,1971 43 46 45 3588 4.7 1 11 dbSNP_100 45 1964,6550 225,1514,2518 no coding-synonymous C11orf41 NM_012194.2 230,1684,4489 TT,TC,CC 23.0679,4.1938,16.7422 1196/1850 33604960 2144,10662 2146 4257 6403 SO:0001819 synonymous_variant U10991 CCDS44565.1, CCDS44565.2 11p13 2012-08-09 2012-08-09 2012-08-09 ENSG00000110427 ENSG00000110427 25758 24836 protein-coding gene gene with protein product 612297 chromosome 11 open reading frame 69, chromosome 11 open reading frame 41 C11orf69, C11orf41 NA Standard NM_012194 NM_012194 NA Approved G2, MGC34830 uc021qfs.1 Q6ZVL6 OTTHUMG00000150410 ENST00000321505.4:c.3588C>T chr11.hg19:g.33604960C>T NA B0QYU0 hg19 CCDS44565.2 0.02 6.720966 CATxATC COVERED 471 0.21565934065934067 12 0.024390243902439025 79 0.21823204419889503 210 0.36713286713286714 170 0.22427440633245382 C 10.12 1.262125 0.23051 0.041938 0.230679 ENSG00000110427 ENST00000526400 . . . 5.57 4.65 0.58169 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.42999 -0.9418 3 . . . -25.2471 8.8586 0.35242 0.1496:0.7757:0.0:0.0747 rs2273115 . . . L 594 . . S + 2 0 C11orf41 33561536 1.000000 0.71417 1.000000 0.80357 0.853000 0.48598 1.438000 0.35002 2.619000 0.88677 0.561000 0.74099 TCA NOVEL KIAA1549L-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317998.1 2 9.029179 KEEP 0 0 0 30 1048 CC 0.999997 0.999997 0 + 12 60 447 1 0 32.1611 141 60 5437 239 ENST00000321505.4 0.078431 1 KIAA1549L 25758 __UNKNOWN__ __UNKNOWN__ 11 33628117 33628117 __UNKNOWN__ Intron SNP A A C rs2076625 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33628117A>C ENST00000321505.4 + 13 4168 KIAA1549L_ENST00000389726.3_Intron Q6ZVL6 K154L_HUMAN KIAA1549-like NA NA integral component of membrane (GO:0016021) NA CTGTGAGTCTAACATAAATTC 0.468 NA C||| 1927 0.384784 0.7413 0.2867 5008 , , NA 20603 0.3621 NA 0.2286 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U10991 CCDS44565.1, CCDS44565.2 11p13 2012-08-09 2012-08-09 2012-08-09 ENSG00000110427 ENSG00000110427 25758 24836 protein-coding gene gene with protein product 612297 chromosome 11 open reading frame 69, chromosome 11 open reading frame 41 C11orf69, C11orf41 NA Standard NM_012194 NM_012194 NA Approved G2, MGC34830 uc021qfs.1 Q6ZVL6 OTTHUMG00000150410 ENST00000321505.4:c.3989-70A>C chr11.hg19:g.33628117A>C NA B0QYU0 hg19 CCDS44565.2 0.02 2.268151 TCTxACA COVERED NOVEL KIAA1549L-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317998.1 0 3.309102 KEEP 0 0 0 11 328 AA 0.993072 0.992484 0 + 4 60 153 0 0 10.269719 78 60 2826 109 ENST00000321505.4 0.04878 0.999407 CD59 966 __UNKNOWN__ __UNKNOWN__ 11 33731406 33731406 __UNKNOWN__ Intron SNP C C T rs842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33731406C>T ENST00000534312.1 - 3 318 CD59_ENST00000426650.2_3'UTR|CD59_ENST00000445143.2_3'UTR|CD59_ENST00000395850.3_3'UTR|CD59_ENST00000533403.1_3'UTR|CD59_ENST00000415002.2_3'UTR|CD59_ENST00000351554.3_3'UTR P13987 CD59_HUMAN CD59 molecule, complement regulatory protein NA NA blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449) anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982) complement binding (GO:0001848) endometrium(1)|lung(2) 3 CTGGTCTTCCCAAGAGCAAAG 0.473 NA C||| 933 0.186302 0.1324 0.1888 5008 , , NA 21061 0.0952 NA 0.33 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7886.1 11p13 2014-09-17 2006-03-28 ENSG00000085063 966 CD molecules, Complement system 1689 protein-coding gene gene with protein product 107271 CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344), CD59 antigen, complement regulatory protein MIC11, MIN1, MSK21, MIN2, MIN3 NA 7691713 Standard NM_203329 NM_001127223 NA Approved 16.3A5, EJ16, EJ30, EL32, G344, p18-20 uc001mus.4 P13987 ENST00000534312.1:c.307+345G>A chr11.hg19:g.33731406C>T NA hg19 0.02 6.321959 TCCxAAG COVERED NOVEL CD59-012 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000389137.1 1 10.469105 KEEP 0 1 32 46 1629 CC 1 1 0 - 8 60 289 0 0 19.087284 145 60 5475 239 ENST00000534312.1 0.052288 1 FBXO3 26273 __UNKNOWN__ __UNKNOWN__ 11 33765897 33765897 __UNKNOWN__ Intron SNP G G C rs704702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33765897G>C ENST00000265651.3 - 11 1258 FBXO3_ENST00000532057.1_Intron|FBXO3_ENST00000526785.1_Intron|FBXO3_ENST00000531080.1_Intron|FBXO3_ENST00000530401.1_3'UTR NM_012175.3 NP_036307.2 Q9UK99 FBX3_HUMAN F-box protein 3 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|nucleus (GO:0005634) ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) GGAACACACAGAGAGGAGTGG 0.428 NA G||| 1658 0.33107 0.2663 0.3559 5008 , , NA 17541 0.2897 NA 0.4036 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001943 CCDS7887.1, CCDS44566.1 11p13 2006-07-07 2004-06-15 ENSG00000110429 ENSG00000110429 26273 F-boxes / other 13582 protein-coding gene gene with protein product 609089 F-box only protein 3 NA 10531037 Standard NM_012175 NM_033406 NA Approved FBX3, FBA uc001muz.3 Q9UK99 OTTHUMG00000166244 ENST00000265651.3:c.1240-2267C>G chr11.hg19:g.33765897G>C NA B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2 hg19 CCDS7887.1 0.02 9.469353 ACAxAGA COVERED NOVEL FBXO3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388665.1 3 10.869097 KEEP 0 1 37 49 1717 GG 1 1 0 - 9 60 346 0 0 22.898896 194 60 7341 300 ENST00000265651.3 0.044335 1 FBXO3 26273 __UNKNOWN__ __UNKNOWN__ 11 33775982 33775982 __UNKNOWN__ Intron SNP A A G rs2272065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33775982A>G ENST00000534136.1 - 6 731 FBXO3_ENST00000448981.2_Intron|FBXO3_ENST00000526785.1_Intron|FBXO3_ENST00000265651.3_Intron|FBXO3_ENST00000530401.1_Intron Q9UK99 FBX3_HUMAN F-box protein 3 NA NA proteolysis (GO:0006508) cytoplasm (GO:0005737)|nucleus (GO:0005634) ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) GGGGGAAAAAAGACTTTTTTC 0.328 NA A||| 1721 0.34365 0.2761 0.3703 5008 , , NA 16456 0.2897 NA 0.4414 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 A , 1174,3230 185,804,1213 61 66 64 , 3.6 0 11 dbSNP_100 64 3286,5308 762,1762,1773 no intron,intron FBXO3 NM_012175.3,NM_033406.2 , 947,2566,2986 GG,GA,AA 38.236,26.6576,34.313 , , 33775982 4460,8538 2202 4297 6499 SO:0001627 intron_variant AK001943 CCDS7887.1, CCDS44566.1 11p13 2006-07-07 2004-06-15 ENSG00000110429 ENSG00000110429 26273 F-boxes / other 13582 protein-coding gene gene with protein product 609089 F-box only protein 3 NA 10531037 Standard NM_012175 NM_033406 NA Approved FBX3, FBA uc001muz.3 Q9UK99 OTTHUMG00000166244 ENST00000534136.1:c.724+18T>C chr11.hg19:g.33775982A>G NA B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2 hg19 0.02 2.253865 AAAxGAC COVERED NOVEL FBXO3-004 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388668.1 0 8.726547 KEEP 0 0 0 29 916 AA 0.999997 0.98954 0 - 7 60 263 0 0 20.209903 54 60 1879 113 ENST00000534136.1 0.114754 0.989542 LMO2 4005 __UNKNOWN__ __UNKNOWN__ 11 33886294 33886294 __UNKNOWN__ Silent SNP A A G rs2038602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33886294A>G ENST00000395833.3 - 2 540 c.111T>C c.(109-111)atT>atC p.I37I LMO2_ENST00000257818.2_Silent_p.I106I NM_001142315.1|NM_001142316.1 NP_001135787.1|NP_001135788.1 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) 37 LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}. NA cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634)|transcription factor complex (GO:0005667) bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270) NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 AGCGGTCCCCAATGTTCTGCT 0.652 NA T TRD@ T-ALL G||| 2175 0.434305 0.5847 0.2839 5008 , , NA 19179 0.4067 NA 0.4185 False NA ,,, NA NA NA 2504 0.3824 NA NA NA Dom yes 11 11p13 4005 LIM domain only 2 (rhombotin-like 1) (RBTN2) L 0 G ,, 2446,1958 546.4+/-377.0 674,1098,430 62 53 56 111,111,318 -4.5 0.9 11 dbSNP_94 56 3551,5045 623.2+/-397.4 762,2027,1509 no coding-synonymous,coding-synonymous,coding-synonymous LMO2 NM_001142315.1,NM_001142316.1,NM_005574.3 ,, 1436,3125,1939 GG,GA,AA 41.3099,44.4596,46.1308 ,, 37/159,37/159,106/228 33886294 5997,7003 2202 4298 6500 SO:0001819 synonymous_variant X61118 CCDS7888.2, CCDS44567.1 11p13 2008-07-18 ENSG00000135363 ENSG00000135363 4005 6642 protein-coding gene gene with protein product T-cell translocation gene 2, rhombotin-like 1 180385 RBTNL1 NA 2034676 Standard NM_005574 NM_005574 NA Approved TTG2, RHOM2, RBTN2 uc010rem.2 P25791 OTTHUMG00000157176 ENST00000395833.3:c.111T>C chr11.hg19:g.33886294A>G NA Q9HD58 hg19 CCDS44567.1 0.02 12.576776 CCCxATG COVERED NOVEL LMO2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347777.1 3 20.460805 KEEP 0 0 0 68 2108 AA 1 1 0 - 19 60 659 0 0 42.978395 329 60 11914 501 ENST00000395833.3 0.054598 1 LMO2 4005 __UNKNOWN__ __UNKNOWN__ 11 33891357 33891357 __UNKNOWN__ 5'UTR SNP G G C rs11032432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:33891357G>C ENST00000395833.3 - 0 5 LMO2_ENST00000493667.1_Intron|LMO2_ENST00000257818.2_5'UTR NM_001142315.1|NM_001142316.1 NP_001135787.1|NP_001135788.1 P25791 RBTN2_HUMAN LIM domain only 2 (rhombotin-like 1) NA NA cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634)|transcription factor complex (GO:0005667) bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270) NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1) 14 CCGGCCGCCCGGAGCCCCTCG 0.821 NA T TRD@ T-ALL T||| 2178 0.434904 0.6036 0.2867 5008 , , NA 4973 0.3958 NA 0.4085 False NA ,,, NA NA NA 2504 0.3793 NA NA NA Dom yes 11 11p13 4005 LIM domain only 2 (rhombotin-like 1) (RBTN2) L 0 1 1 1 NA NA 11 NA 33891357 32 64 96 SO:0001623 5_prime_UTR_variant X61118 CCDS7888.2, CCDS44567.1 11p13 2008-07-18 ENSG00000135363 ENSG00000135363 4005 6642 protein-coding gene gene with protein product T-cell translocation gene 2, rhombotin-like 1 180385 RBTNL1 NA 2034676 Standard NM_005574 NM_005574 NA Approved TTG2, RHOM2, RBTN2 uc010rem.2 P25791 OTTHUMG00000157176 ENST00000395833.3:c.-425C>G chr11.hg19:g.33891357G>C NA Q9HD58 hg19 CCDS44567.1 0.02 1.752082 CCCxGAG COVERED NOVEL LMO2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347777.1 0 6.915836 KEEP 0 0 0 23 679 GG 0.999892 0.999451 0 - 5 60 143 0 0 8.682325 79 60 2530 114 ENST00000395833.3 0.059524 0.999559 CAPRIN1 4076 __UNKNOWN__ __UNKNOWN__ 11 34118137 34118137 __UNKNOWN__ Missense_Mutation SNP A A G rs79102077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34118137A>G ENST00000341394.4 + 16 2006 c.1817A>G c.(1816-1818)aAt>aGt p.N606S CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.N606S|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.N606S|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.N606S|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.N525S NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 606 NA negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) CCCTATTACAATAGTCGTGGT 0.507 NA A||| 18 0.00359425 0.0 0.0 5008 , , NA 14281 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A SER/ASN,SER/ASN 0,4404 0,0,2202 103 102 102 1817,1817 4.9 0.9 11 dbSNP_131 102 2,8594 2.2+/-6.3 0,2,4296 yes missense,missense CAPRIN1 NM_005898.4,NM_203364.2 46,46 0,2,6498 GG,GA,AA 0.0233,0.0,0.0154 probably-damaging,probably-damaging 606/710,606/695 34118137 2,12998 2202 4298 6500 SO:0001583 missense BC001731 CCDS31453.1, CCDS31454.1 11p13 2010-08-03 2007-03-27 2007-03-27 ENSG00000135387 ENSG00000135387 4076 6743 protein-coding gene gene with protein product cytoplasmic activation/proliferation-associated protein-1 601178 membrane component, chromosome 11, surface marker 1, GPI-anchored membrane protein 1 M11S1, GPIAP1 NA 7657653, 16177067, 17210633, 14764709, 15471883 Standard NM_005898 NM_005898 NA Approved caprin-1, RNG105 uc001mvh.1 Q14444 OTTHUMG00000166248 ENST00000341394.4:c.1817A>G chr11.hg19:g.34118137A>G ENSP00000340329:p.Asn606Ser NA A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09 hg19 CCDS31453.1 0.02 1.998085 ACAxTAG COVERED 15 0.006868131868131868 0 0.0 0 0.0 15 0.026223776223776224 0 0.0 A 12.23 1.875347 0.33162 0.0 2.33E-4 ENSG00000135387 ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307 T;T;T;T;T 0.23754 1.89;1.89;1.89;1.89;1.89 6.06 4.94 0.65067 . 0.080753 0.85682 D 0.000000 T 0.05227 0.0139 N 0.20807 0.61 0.52501 D 0.999955 P;B 0.35551 0.509;0.291 B;B 0.37346 0.247;0.092 T 0.03017 -1.1082 10 0.06891 T 0.86 -7.9951 12.1082 0.53823 0.9335:0.0:0.0665:0.0 . 606;606 Q14444;Q14444-2 CAPR1_HUMAN;. S 606;606;606;606;525 ENSP00000340329:N606S;ENSP00000374296:N606S;ENSP00000434150:N606S;ENSP00000434204:N606S;ENSP00000431581:N525S ENSP00000340329:N606S N + 2 0 CAPRIN1 34074713 1.000000 0.71417 0.945000 0.38365 0.629000 0.37895 6.989000 0.76219 1.122000 0.41944 -0.250000 0.11733 AAT NOVEL CAPRIN1-001 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000388680.2 0 9.625834 KEEP 0 0 0 32 964 AA 0.999997 0.999833 0 + 5 60 175 0 0 11.503458 85 60 3051 146 ENST00000341394.4 0.055556 0.999835 ABTB2 25841 __UNKNOWN__ __UNKNOWN__ 11 34181775 34181775 __UNKNOWN__ Intron SNP C C A rs376052637 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34181775C>A ENST00000435224.2 - 12 2928 ABTB2_ENST00000298992.2_Intron NM_145804.2 NP_665803.2 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 NA NA cellular response to toxic substance (GO:0097237) nucleus (GO:0005634) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) TGATGCAGGGCGCAGGGGGCG 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 49 49 49 NA NA 11 NA 34181775 2202 4298 6500 SO:0001627 intron_variant AK056863 CCDS7890.1, CCDS7890.2 11p13 2013-10-02 ENSG00000166016 ENSG00000166016 25841 BTB/POZ domain containing, Ankyrin repeat domain containing 23842 protein-coding gene gene with protein product NA Standard NM_145804 NM_145804 NA Approved DKFZP586C1619, BTBD22, ABTB2A uc001mvl.2 Q8N961 OTTHUMG00000044382 ENST00000435224.2:c.2503+19G>T chr11.hg19:g.34181775C>A NA A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44 hg19 CCDS7890.2 0.02 3.009905 GGGxGCA COVERED NOVEL ABTB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388703.3 0 6.845664 KEEP 0 0 0 23 668 CC 0.999892 0.999892 0 - 19 60 257 0 0 10.261175 155 60 4016 208 ENST00000435224.2 0.109195 1 ABTB2 25841 __UNKNOWN__ __UNKNOWN__ 11 34357080 34357080 __UNKNOWN__ Intron SNP G G A rs10836186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34357080G>A ENST00000435224.2 - 1 1308 ABTB2_ENST00000298992.2_Intron NM_145804.2 NP_665803.2 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 NA NA cellular response to toxic substance (GO:0097237) nucleus (GO:0005634) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) AAATCTTTTCGCCACAATTCT 0.358 NA G||| 649 0.129593 0.1233 0.0634 5008 , , NA 21561 0.37 NA 0.0477 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056863 CCDS7890.1, CCDS7890.2 11p13 2013-10-02 ENSG00000166016 ENSG00000166016 25841 BTB/POZ domain containing, Ankyrin repeat domain containing 23842 protein-coding gene gene with protein product NA Standard NM_145804 NM_145804 NA Approved DKFZP586C1619, BTBD22, ABTB2A uc001mvl.2 Q8N961 OTTHUMG00000044382 ENST00000435224.2:c.883+21167C>T chr11.hg19:g.34357080G>A NA A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44 hg19 CCDS7890.2 0.02 -0.332373 TTCxCCA COVERED NOVEL ABTB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388703.3 2 3.009827 KEEP 0 0 0 10 355 GG 0.992708 0.845771 0 - 3 60 108 0 0 7.67862 35 60 1208 59 ENST00000435224.2 0.078947 0.851984 ABTB2 25841 __UNKNOWN__ __UNKNOWN__ 11 34378381 34378381 __UNKNOWN__ Missense_Mutation SNP G G C rs1925368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34378381G>C ENST00000435224.2 - 1 1174 c.750C>G c.(748-750)caC>caG p.H250Q ABTB2_ENST00000298992.2_Missense_Mutation_p.H64Q NM_145804.2 NP_665803.2 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 250 NA H -> Q (in dbSNP:rs1925368). {ECO:0000269|PubMed:14702039}. cellular response to toxic substance (GO:0097237) nucleus (GO:0005634) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CATCAGGGCTGTGGCTGGCCA 0.667 NA C||| 896 0.178914 0.2859 0.0879 5008 , , NA 16857 0.373 NA 0.0626 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 C GLN/HIS 1058,3346 127,804,1271 24 21 22 750 3.8 1 11 dbSNP_92 22 575,8019 12,551,3734 yes missense ABTB2 NM_145804.2 24 139,1355,5005 CC,CG,GG 6.6907,24.0236,12.5635 benign 250/1026 34378381 1633,11365 2202 4297 6499 SO:0001583 missense AK056863 CCDS7890.1, CCDS7890.2 11p13 2013-10-02 ENSG00000166016 ENSG00000166016 25841 BTB/POZ domain containing, Ankyrin repeat domain containing 23842 protein-coding gene gene with protein product NA Standard NM_145804 NM_145804 NA Approved DKFZP586C1619, BTBD22, ABTB2A uc001mvl.2 Q8N961 OTTHUMG00000044382 ENST00000435224.2:c.750C>G chr11.hg19:g.34378381G>C ENSP00000410157:p.His250Gln NA A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44 hg19 CCDS7890.2 0.02 14.089259 GCTxTGG COVERED 438 0.20054945054945056 137 0.2784552845528455 36 0.09944751381215469 225 0.39335664335664333 40 0.052770448548812667 C 2.321 -0.355532 0.05138 0.240236 0.066907 ENSG00000166016 ENST00000435224;ENST00000298992 T;T 0.57907 0.37;0.37 4.72 3.81 0.43845 Histone-fold (2); 0.145459 0.47093 N 0.000255 T 0.00012 0.0000 N 0.00436 -1.5 0.51233 P 8.60000000000305E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.40794 -0.9544 9 0.11485 T 0.65 -9.1489 9.2476 0.37536 0.0:0.7737:0.1463:0.08 rs1925368;rs3740794;rs1925368 64 Q8N961 ABTB2_HUMAN Q 250;64 ENSP00000410157:H250Q;ENSP00000298992:H64Q ENSP00000298992:H64Q H - 3 2 ABTB2 34334957 1.000000 0.71417 1.000000 0.80357 0.763000 0.43281 2.560000 0.45896 0.437000 0.26423 -0.371000 0.07208 CAC NOVEL ABTB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388703.3 3 29.495406 KEEP 0 0 0 98 3496 GG 1 1 0 - 21 60 799 0 0 56.512565 291 60 10899 499 ENST00000435224.2 0.067308 1 ABTB2 25841 __UNKNOWN__ __UNKNOWN__ 11 34379503 34379503 __UNKNOWN__ 5'UTR SNP G G A rs6484711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34379503G>A ENST00000435224.2 - 0 52 NM_145804.2 NP_665803.2 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 2 NA NA cellular response to toxic substance (GO:0097237) nucleus (GO:0005634) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GCAGGGCGCAGGGCGCAGCGC 0.687 NA G||| 897 0.179113 0.2867 0.0879 5008 , , NA 8225 0.373 NA 0.0626 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK056863 CCDS7890.1, CCDS7890.2 11p13 2013-10-02 ENSG00000166016 ENSG00000166016 25841 BTB/POZ domain containing, Ankyrin repeat domain containing 23842 protein-coding gene gene with protein product NA Standard NM_145804 NM_145804 NA Approved DKFZP586C1619, BTBD22, ABTB2A uc001mvl.2 Q8N961 OTTHUMG00000044382 ENST00000435224.2:c.-373C>T chr11.hg19:g.34379503G>A NA A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44 hg19 CCDS7890.2 0.02 4.038035 GCAxGGC COVERED NOVEL ABTB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388703.3 0 25.58215 KEEP 0 0 0 85 3000 GG 1 0.999989 0 - 7 60 232 0 0 15.320014 100 60 3556 245 ENST00000435224.2 0.065421 0.999989 CAT 847 __UNKNOWN__ __UNKNOWN__ 11 34460704 34460704 __UNKNOWN__ Intron SNP C C T rs10836235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34460704C>T ENST00000241052.4 + 1 155 NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase NA NA aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) GCCCGGCTTCCCCCGGGGCGG 0.687 NA C||| 628 0.125399 0.0923 0.1052 5008 , , NA 14551 0.3036 NA 0.0944 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY028632 CCDS7891.1 11p13 2012-10-02 ENSG00000121691 ENSG00000121691 847 1.11.1.6 1516 protein-coding gene gene with protein product 115500 NA Standard NM_001752 NM_001752 NA Approved uc001mvm.3 P04040 OTTHUMG00000044353 ENST00000241052.4:c.66+78C>T chr11.hg19:g.34460704C>T NA A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85 hg19 CCDS7891.1 0.02 1.846929 TTCxCCC COVERED NOVEL CAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103197.2 2 10.83473 KEEP 0 0 0 36 1239 CC 0.999999 0.999929 0 + 9 60 325 0 0 23.832064 87 60 3093 138 ENST00000241052.4 0.09375 0.99993 CAT 847 __UNKNOWN__ __UNKNOWN__ 11 34482908 34482908 __UNKNOWN__ Silent SNP C C T rs769217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34482908C>T ENST00000241052.4 + 9 1256 c.1167C>T c.(1165-1167)gaC>gaT p.D389D NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 389 NA aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ACCAGCGTGACGGCCCGATGT 0.607 NA C||| 1316 0.26278 0.1422 0.2896 5008 , , NA 18460 0.5 NA 0.2147 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 GRCh37 CM025323 CAT M rs769217 C 739,3665 305.8+/-289.2 57,625,1520 113 106 108 1167 -2.6 1 11 dbSNP_92 108 2007,6589 351.1+/-328.1 209,1589,2500 no coding-synonymous CAT NM_001752.3 266,2214,4020 TT,TC,CC 23.3481,16.7802,21.1231 389/528 34482908 2746,10254 2202 4298 6500 SO:0001819 synonymous_variant AY028632 CCDS7891.1 11p13 2012-10-02 ENSG00000121691 ENSG00000121691 847 1.11.1.6 1516 protein-coding gene gene with protein product 115500 NA Standard NM_001752 NM_001752 NA Approved uc001mvm.3 P04040 OTTHUMG00000044353 ENST00000241052.4:c.1167C>T chr11.hg19:g.34482908C>T NA A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85 hg19 CCDS7891.1 0.02 8.689685 TGAxGGC COVERED NOVEL CAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103197.2 1 20.163874 KEEP 0 0 0 67 2295 CC 1 1 0 + 13 60 478 0 0 32.182807 222 60 7837 381 ENST00000241052.4 0.055319 1 CAT 847 __UNKNOWN__ __UNKNOWN__ 11 34492443 34492443 __UNKNOWN__ Intron SNP C C A rs17881488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34492443C>A ENST00000241052.4 + 12 1523 CAT_ENST00000534710.1_3'UTR NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase NA NA aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886) aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) AACCACAGTCCCTGGGGAGTG 0.473 NA A||| 655 0.130791 0.115 0.1052 5008 , , NA 21191 0.3026 NA 0.0934 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY028632 CCDS7891.1 11p13 2012-10-02 ENSG00000121691 ENSG00000121691 847 1.11.1.6 1516 protein-coding gene gene with protein product 115500 NA Standard NM_001752 NM_001752 NA Approved uc001mvm.3 P04040 OTTHUMG00000044353 ENST00000241052.4:c.1435-62C>A chr11.hg19:g.34492443C>A NA A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85 hg19 CCDS7891.1 0.02 1.778124 GTCxCTG COVERED NOVEL CAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103197.2 3 4.514388 KEEP 0 0 0 15 512 CC 0.99649 0.99581 0 + 4 60 144 0 0 9.393036 77 60 2707 112 ENST00000241052.4 0.049383 0.999317 ELF5 2001 __UNKNOWN__ __UNKNOWN__ 11 34501064 34501064 __UNKNOWN__ 3'UTR SNP C C A rs11032717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34501064C>A ENST00000257832.2 - 0 1596 ELF5_ENST00000312319.2_3'UTR NM_001422.3 NP_001413.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) NA NA cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) TATGTTAAATCCAATTAAGTC 0.413 NA C||| 657 0.13119 0.1195 0.1052 5008 , , NA 19565 0.3036 NA 0.0954 False NA ,,, NA NA NA 2504 0.0245 NA NA NA Melanoma(61;202 1660 4348 21594) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF049703 CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1 11p13-p12 2008-05-14 ENSG00000135374 ENSG00000135374 2001 3320 protein-coding gene gene with protein product 605169 NA 9840936 Standard NM_198381 NM_001422 NA Approved uc001mvp.2 Q9UKW6 OTTHUMG00000166451 ENST00000257832.2:c.*701G>T chr11.hg19:g.34501064C>A NA A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5 hg19 CCDS7893.1 0.02 5.810096 AATxCAA COVERED NOVEL ELF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389844.1 1 7.825015 KEEP 0 0 0 26 888 CC 0.999957 0.999957 0 - 7 60 241 0 0 14.853771 159 60 5754 217 ENST00000257832.2 0.042169 1 ELF5 2001 __UNKNOWN__ __UNKNOWN__ 11 34514412 34514412 __UNKNOWN__ Intron SNP C C T rs11608027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34514412C>T ENST00000257832.2 - 3 483 ELF5_ENST00000528709.1_Intron|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000312319.2_Intron|ELF5_ENST00000532417.1_3'UTR NM_001422.3 NP_001413.1 Q9UKW6 ELF5_HUMAN E74-like factor 5 (ets domain transcription factor) NA NA cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) gaggaagtcacttaatgtctc 0.428 NA C||| 604 0.120607 0.1218 0.1081 5008 , , NA 21323 0.251 NA 0.0934 False NA ,,, NA NA NA 2504 0.0215 NA NA NA Melanoma(61;202 1660 4348 21594) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF049703 CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1 11p13-p12 2008-05-14 ENSG00000135374 ENSG00000135374 2001 3320 protein-coding gene gene with protein product 605169 NA 9840936 Standard NM_198381 NM_001422 NA Approved uc001mvp.2 Q9UKW6 OTTHUMG00000166451 ENST00000257832.2:c.355+613G>A chr11.hg19:g.34514412C>T NA A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5 hg19 CCDS7893.1 0.02 11.195248 TCAxTTA COVERED NOVEL ELF5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389844.1 1 12.641775 KEEP 0 0 0 42 1540 CC 1 1 0 - 19 60 667 0 0 45.51394 271 60 10276 399 ENST00000257832.2 0.065517 1 EHF 26298 __UNKNOWN__ __UNKNOWN__ 11 34643955 34643955 __UNKNOWN__ 5'UTR SNP G G A rs12789617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34643955G>A ENST00000533754.1 + 0 206 EHF_ENST00000530286.1_Intron|EHF_ENST00000257831.3_Intron|EHF_ENST00000527001.1_Intron|EHF_ENST00000450654.2_Intron ets homologous factor NA NA NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) TGGTTCTGCAGCCATGGAGGT 0.428 NA G||| 870 0.173722 0.003 0.0634 5008 , , NA 21915 0.502 NA 0.0586 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF170583 CCDS7894.1, CCDS55752.1, CCDS55753.1 11p12 2008-07-18 ENSG00000135373 26298 3246 protein-coding gene gene with protein product epithelium-specific ets factor 3, ESE3 transcription factor 605439 NA 10527851 Standard NM_012153 NM_012153 NA Approved ESE3, ESEJ uc021qfu.1 Q9NZC4 ENST00000533754.1:c.-12G>A chr11.hg19:g.34643955G>A NA hg19 CCDS7894.1 0.02 12.245281 GCAxCCA COVERED NOVEL EHF-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389855.1 0 12.641384 KEEP 0 0 0 42 1522 GG 1 1 0 + 13 60 449 0 0 27.771459 293 60 11096 404 ENST00000533754.1 0.042484 1 PDHX 8050 __UNKNOWN__ __UNKNOWN__ 11 34953055 34953055 __UNKNOWN__ Intron SNP C C A rs12289218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:34953055C>A ENST00000227868.4 + 2 325 PDHX_ENST00000448838.3_Intron|PDHX_ENST00000430469.2_Intron O00330 ODPX_HUMAN pyruvate dehydrogenase complex, component X NA NA cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) transferase activity, transferring acyl groups (GO:0016746) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 16 all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242) all_hematologic(20;0.124) STAD - Stomach adenocarcinoma(6;0.00113) TTCCTAATGTCCTGTGTGCTT 0.333 NA C||| 964 0.192492 0.4395 0.1037 5008 , , NA 17679 0.0873 NA 0.1173 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 C ,, 1728,2676 504.6+/-365.9 352,1024,826 100 94 96 ,, -1.8 0 11 dbSNP_120 96 947,7649 203.5+/-246.5 56,835,3407 no intron,intron,intron PDHX NM_001135024.1,NM_001166158.1,NM_003477.2 ,, 408,1859,4233 AA,AC,CC 11.0168,39.2371,20.5769 ,, ,, 34953055 2675,10325 2202 4298 6500 SO:0001627 intron_variant U82328 CCDS7896.1, CCDS44569.1, CCDS53616.1 11p13 2008-02-05 ENSG00000110435 ENSG00000110435 8050 21350 protein-coding gene gene with protein product 608769 NA 9467010, 12372595 Standard NM_003477 NM_003477 NA Approved E3BP, proX, PDX1, OPDX, DLDBP uc001mvt.3 O00330 OTTHUMG00000166491 ENST00000227868.4:c.241+24C>A chr11.hg19:g.34953055C>A NA B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783 hg19 CCDS7896.1 0.02 15.300502 TGTxCTG COVERED NOVEL PDHX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390017.1 2 18.660308 KEEP 0 0 0 62 2189 CC 1 1 0 + 17 70 575 0 0 34.286996 429 70 15370 613 ENST00000227868.4 0.038117 1 SLC1A2 6506 __UNKNOWN__ __UNKNOWN__ 11 35287017 35287017 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:35287017G>A ENST00000395753.1 - 11 1948 SLC1A2_ENST00000606205.1_3'UTR|SLC1A2_ENST00000479543.1_Intron|SLC1A2_ENST00000278379.3_Intron|SLC1A2_ENST00000395750.1_Intron NM_001252652.1 NP_001239581.1 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 NA NA adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632) axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) TTTTTTTAAAGAAATCAAGCA 0.363 NA NA NA NA NA NA NA NA NA NA NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209444 CCDS31459.1, CCDS55756.1 11p13-p12 2013-05-22 ENSG00000110436 ENSG00000110436 6506 Solute carriers 10940 protein-coding gene gene with protein product 600300 NA 1448170 Standard NM_004171 NM_004171 NA Approved GLT-1, EAAT2 uc001mwd.3 P43004 OTTHUMG00000044391 ENST00000395753.1:c.1626+56C>T chr11.hg19:g.35287017G>A NA B4DQE9|Q14417|Q541G6|U3KQQ4 hg19 CCDS55756.1 0.02 4.225046 AAAxAAA COVERED NOVEL SLC1A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258182.1 1 3.858542 KEEP 0 1 8 16 443 GG 0.999366 0.999366 0 - 33 70 363 0 1 10.77535 252 70 7155 347 ENST00000395753.1 0.115789 1 SLC1A2 6506 __UNKNOWN__ __UNKNOWN__ 11 35314173 35314173 __UNKNOWN__ Intron SNP C C T rs2281634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:35314173C>T ENST00000395753.1 - 8 1152 SLC1A2_ENST00000606205.1_Intron|SLC1A2_ENST00000278379.3_Intron|SLC1A2_ENST00000395750.1_Intron NM_001252652.1 NP_001239581.1 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 NA NA adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632) axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) CTCTTCTGTACAAAAAAAGAC 0.423 NA C||| 768 0.153355 0.1664 0.1859 5008 , , NA 19956 0.2173 NA 0.0646 False NA ,,, NA NA NA 2504 0.138 NA NA NA NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209444 CCDS31459.1, CCDS55756.1 11p13-p12 2013-05-22 ENSG00000110436 ENSG00000110436 6506 Solute carriers 10940 protein-coding gene gene with protein product 600300 NA 1448170 Standard NM_004171 NM_004171 NA Approved GLT-1, EAAT2 uc001mwd.3 P43004 OTTHUMG00000044391 ENST00000395753.1:c.831-106G>A chr11.hg19:g.35314173C>T NA B4DQE9|Q14417|Q541G6|U3KQQ4 hg19 CCDS55756.1 0.02 2.00381 GTAxAAA COVERED NOVEL SLC1A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258182.1 1 2.708634 KEEP 0 0 0 9 307 CC 0.99254 0.99154 0 - 4 60 143 0 0 9.360257 74 60 2766 88 ENST00000395753.1 0.051282 0.998993 FJX1 24147 __UNKNOWN__ __UNKNOWN__ 11 35641312 35641312 __UNKNOWN__ Silent SNP G G A rs3740799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:35641312G>A ENST00000317811.4 + 1 1578 c.1128G>A c.(1126-1128)ctG>ctA p.L376L FJX1_ENST00000532914.1_3'UTR NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 376 NA retina layer formation (GO:0010842) extracellular space (GO:0005615) lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) GGCGCGTCCTGGAGCTGCACC 0.711 NA G||| 459 0.0916534 0.0076 0.1153 5008 , , NA 12160 0.0794 NA 0.1839 False NA ,,, NA NA NA 2504 0.1063 NA NA NA Melanoma(161;10 2587 27165 47356) NA 0 G 122,3572 7,108,1732 5 7 6 1128 5.2 1 11 dbSNP_107 6 1424,6522 123,1178,2672 no coding-synonymous FJX1 NM_014344.3 130,1286,4404 AA,AG,GG 17.921,3.3027,13.2818 376/438 35641312 1546,10094 1847 3973 5820 SO:0001819 synonymous_variant AJ245599 CCDS44570.1 11p13 2012-05-18 ENSG00000179431 24147 17166 protein-coding gene gene with protein product putative secreted ligand homologous to fjx1 612206 NA 7647465, 10072791 Standard NM_014344 NM_014344 NA Approved FLJ22416, FLJ25593 uc001mwh.3 Q86VR8 ENST00000317811.4:c.1128G>A chr11.hg19:g.35641312G>A NA B2RCA9|Q9UGK6 hg19 CCDS44570.1 0.02 3.970862 CCTxGAG COVERED NOVEL FJX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389078.1 0 14.446438 KEEP 0 0 0 48 1666 GG 1 1 0 + 5 60 177 0 0 10.955843 121 60 4477 198 ENST00000317811.4 0.039683 1 TRIM44 54765 __UNKNOWN__ __UNKNOWN__ 11 35829478 35829478 __UNKNOWN__ 3'UTR SNP G G A rs6709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:35829478G>A ENST00000299413.5 + 0 2885 NM_017583.4 NP_060053.2 Q96DX7 TRI44_HUMAN tripartite motif containing 44 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115) all_hematologic(20;0.107) TGCACTGGGGGAAATCCCTTT 0.502 NA G||| 931 0.185903 0.171 0.3314 5008 , , NA 13815 0.2192 NA 0.1272 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC024031 CCDS31461.1 11p13 2011-04-20 2011-01-25 ENSG00000166326 ENSG00000166326 54765 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19016 protein-coding gene gene with protein product 612298 tripartite motif-containing 44 NA Standard NM_017583 NM_017583 NA Approved DIPB, MC7 uc001mwi.2 Q96DX7 OTTHUMG00000166312 ENST00000299413.5:c.*1543G>A chr11.hg19:g.35829478G>A NA D3DR14|Q96QY2|Q9UGK0 hg19 CCDS31461.1 0.02 1.956354 GGGxAAA COVERED NOVEL TRIM44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389081.1 0 8.727885 KEEP 0 0 0 29 1006 GG 0.999997 0.99755 0 + 7 60 253 0 0 18.669061 65 60 2416 132 ENST00000299413.5 0.097222 0.997553 LINC00610 399879 __UNKNOWN__ __UNKNOWN__ 11 36291555 36291555 __UNKNOWN__ lincRNA SNP C C A rs76443125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:36291555C>A ENST00000355500.1 - 0 2016 Q6ZST8 CK055_HUMAN long intergenic non-protein coding RNA 610 NA NA NA aaagccactacaaccttggga 0.418 NA C||| 287 0.0573083 0.031 0.0375 5008 , , NA 21867 0.0288 NA 0.0726 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK127155 11p13 2012-10-12 2012-05-16 2012-05-16 ENSG00000196559 ENSG00000196559 399879 Long non-coding RNAs 23262 non-coding RNA RNA, long non-coding chromosome 11 open reading frame 55 C11orf55 NA Standard NA Approved FLJ45212 Q6ZST8 OTTHUMG00000156310 ENST00000355500.1: chr11.hg19:g.36291555C>A NA hg19 0.02 6.058677 CTAxAAC COVERED NOVEL LINC00610-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000343853.1 4 10.835325 KEEP 0 0 0 36 1274 CC 0.999999 0.999999 0 - 6 60 219 0 0 13.300132 177 60 6774 254 ENST00000355500.1 0.032787 1 PRR5L 79899 __UNKNOWN__ __UNKNOWN__ 11 36424729 36424729 __UNKNOWN__ Intron SNP G G A rs7120381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:36424729G>A ENST00000527487.1 + 2 221 PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000378867.3_Intron|PRR5L_ENST00000530639.1_Intron|PRR5L_ENST00000311599.5_Intron NM_001160169.1 NP_001153641.1 Q6MZQ0 PRR5L_HUMAN proline rich 5 like NA NA negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203) mitochondrion (GO:0005739)|TORC2 complex (GO:0031932) ubiquitin protein ligase binding (GO:0031625) breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 GATGGAGAGTGTGGCCAGGTT 0.527 NA G||| 1116 0.222843 0.5393 0.1009 5008 , , NA 19499 0.0615 NA 0.1441 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31463.1, CCDS53617.1 11p13-p12 2009-07-09 ENSG00000135362 79899 25878 protein-coding gene gene with protein product protein observed with Rictor-2 611728 NA 17461779 Standard NM_024841 NM_024841 NA Approved FLJ14213, PROTOR-2 uc001mwp.3 Q6MZQ0 ENST00000527487.1:c.165-119G>A chr11.hg19:g.36424729G>A NA A4QN22|E9PKY1|Q96H46|Q9H7V4 hg19 CCDS53617.1 0.02 1.681185 AGTxTGG COVERED NOVEL PRR5L-017 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389525.1 0 4.514322 KEEP 0 0 0 15 518 GG 0.99649 0.996372 0 + 4 60 140 0 0 8.786087 87 60 3182 116 ENST00000527487.1 0.043956 0.999881 TRAF6 7189 __UNKNOWN__ __UNKNOWN__ 11 36510071 36510071 __UNKNOWN__ 3'UTR SNP T T C rs3740961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:36510071T>C ENST00000526995.1 - 0 3132 NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase NA NA activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234) histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) GATGGATCTTTAGATCCTTTA 0.413 NA T||| 1182 0.236022 0.0265 0.2896 5008 , , NA 15504 0.5317 NA 0.1233 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7901.1 11p12 2013-01-09 2012-02-23 ENSG00000175104 ENSG00000175104 7189 RING-type (C3HC4) zinc fingers 12036 protein-coding gene gene with protein product 602355 TNF receptor-associated factor 6 NA 8837778 Standard NM_145803 NM_004620 NA Approved RNF85 uc001mws.2 Q9Y4K3 OTTHUMG00000166391 ENST00000526995.1:c.*1317A>G chr11.hg19:g.36510071T>C NA A6NKI7|A8KAB3|D3DR16|Q8NEH5 hg19 CCDS7901.1 0.02 2.171464 CTTxAGA COVERED NOVEL TRAF6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389530.1 1 7.220122 KEEP 0 0 0 24 722 TT 0.999909 0.999804 0 - 5 60 196 0 0 13.52761 88 60 3193 143 ENST00000526995.1 0.053763 0.999895 RAG1 5896 __UNKNOWN__ __UNKNOWN__ 11 36597313 36597313 __UNKNOWN__ Missense_Mutation SNP A A G rs2227973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:36597313A>G ENST00000299440.5 + 2 2571 c.2459A>G c.(2458-2460)aAg>aGg p.K820R NM_000448.2 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 820 NA K -> R (in dbSNP:rs2227973). adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151) nucleus (GO:0005634) acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAAGTGTATAAGAATCCCAAT 0.458 NA Familial Hemophagocytic Lymphohistiocytosis A||| 1292 0.257987 0.0847 0.2795 5008 , , NA 20870 0.5665 NA 0.1193 False NA ,,, NA NA NA 2504 0.3016 NA NA NA Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA 0 GRCh37 CM068079 RAG1 M rs2227973 A ARG/LYS 474,3930 220.4+/-237.8 25,424,1753 62 63 63 2459 2.6 0.4 11 dbSNP_98 63 981,7615 211.0+/-251.7 54,873,3371 yes missense RAG1 NM_000448.2 26 79,1297,5124 GG,GA,AA 11.4123,10.7629,11.1923 benign 820/1044 36597313 1455,11545 2202 4298 6500 SO:0001583 missense Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR M29474 CCDS7902.1 11p13 2014-09-17 ENSG00000166349 5896 RING-type (C3HC4) zinc fingers 9831 protein-coding gene gene with protein product recombination activating protein 1, RING finger protein 74, V(D)J recombination-activating protein 1 179615 NA 1612612, 1283330 Standard NM_000448 NM_000448 NA Approved RNF74, MGC43321 uc001mwu.4 P15918 ENST00000299440.5:c.2459A>G chr11.hg19:g.36597313A>G ENSP00000299440:p.Lys820Arg NA E9PPC4|Q8IY72|Q8NER2 hg19 CCDS7902.1 0.02 15.338615 ATAxGAA COVERED 538 0.24633699633699635 33 0.06707317073170732 73 0.20165745856353592 340 0.5944055944055944 92 0.12137203166226913 A 12.48 1.949342 0.34377 0.107629 0.114123 ENSG00000166349 ENST00000534663;ENST00000299440 D;D 0.86562 -2.14;-2.14 6.13 2.58 0.30949 . 0.434403 0.26231 N 0.025575 T 0.00012 0.0000 L 0.58428 1.81 0.09310 P 0.9999999999147186 B 0.06786 0.001 B 0.11329 0.006 T 0.41805 -0.9488 9 0.87932 D 0 . 9.8233 0.40896 0.8084:0.0:0.1916:0.0 rs2227973;rs3829279;rs58239341;rs2227973 820 P15918 RAG1_HUMAN R 820 ENSP00000434610:K820R;ENSP00000299440:K820R ENSP00000299440:K820R K + 2 0 RAG1 36553889 1.000000 0.71417 0.393000 0.26258 0.992000 0.81027 2.867000 0.48428 0.204000 0.20548 0.524000 0.50904 AAG NOVEL RAG1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389535.1 2 9.930215 KEEP 0 0 0 33 1052 AA 0.999998 0.999998 0 + 10 60 373 0 0 21.944193 375 60 13897 478 ENST00000299440.5 0.025974 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 42209292 42209292 __UNKNOWN__ IGR SNP T T G rs901894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:42209292T>G NA NA RP11-148I19.1 (23891 upstream) : CTD-2572N17.1 (27052 downstream) NA NA NA GATAGCAAATtctattgtgtc 0.378 NA G||| 1833 0.366014 0.4811 0.3228 5008 , , NA 19604 0.4514 NA 0.1988 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.42209292T>G NA hg19 0.02 9.393224 AATxCTA COVERED NOVEL 0 1 6.319373 KEEP 0 0 0 21 688 TT 0.999869 0.999869 0 9 60 341 0 0 21.63736 237 60 8571 321 0.036585 1 ALKBH3 221120 __UNKNOWN__ __UNKNOWN__ 11 43905440 43905440 __UNKNOWN__ Intron SNP C C G rs2271818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:43905440C>G ENST00000302708.4 + 4 594 ALKBH3_ENST00000378840.4_Intron|ALKBH3_ENST00000532410.1_Intron NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418) endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) TAGTTTTTAACTTTATTTTGA 0.383 NA Direct reversal of damage C||| 1517 0.302915 0.0598 0.2104 5008 , , NA 16037 0.6002 NA 0.3529 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB042029 CCDS7906.1 11p11.2 2013-10-11 ENSG00000166199 ENSG00000166199 221120 Alkylation repair homologs 30141 protein-coding gene gene with protein product 610603 NA 22055184 Standard NM_139178 NM_139178 NA Approved DEPC-1 uc001mxs.2 Q96Q83 OTTHUMG00000166417 ENST00000302708.4:c.184-93C>G chr11.hg19:g.43905440C>G NA A6NDJ1|Q3SYI0|Q6NX57|Q96BU8 hg19 CCDS7906.1 0.02 4.565116 TAAxTTT COVERED NOVEL ALKBH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389693.1 0 3.630963 KEEP 0 1 34 24 787 CC 0.999957 0.999957 0 + 6 60 236 0 0 15.748294 132 60 4721 172 ENST00000302708.4 0.043478 1 ALKBH3 221120 __UNKNOWN__ __UNKNOWN__ 11 43908104 43908104 __UNKNOWN__ Intron SNP T T G rs3740983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:43908104T>G ENST00000302708.4 + 5 629 ALKBH3_ENST00000378840.4_Intron|ALKBH3_ENST00000532410.1_Intron NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418) endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) CCACTGGGTATAGCATATTGT 0.438 NA Direct reversal of damage G||| 1380 0.275559 0.1377 0.4236 5008 , , NA 20383 0.2391 NA 0.2366 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 G 532,2604 48,436,1084 104 85 91 -0.1 0 11 dbSNP_107 91 1729,5435 196,1337,2049 no intron ALKBH3 NM_139178.3 244,1773,3133 GG,GT,TT 24.1346,16.9643,21.9515 43908104 2261,8039 1568 3582 5150 SO:0001627 intron_variant AB042029 CCDS7906.1 11p11.2 2013-10-11 ENSG00000166199 ENSG00000166199 221120 Alkylation repair homologs 30141 protein-coding gene gene with protein product 610603 NA 22055184 Standard NM_139178 NM_139178 NA Approved DEPC-1 uc001mxs.2 Q96Q83 OTTHUMG00000166417 ENST00000302708.4:c.219-52T>G chr11.hg19:g.43908104T>G NA A6NDJ1|Q3SYI0|Q6NX57|Q96BU8 hg19 CCDS7906.1 0.02 11.50602 GTAxAGC COVERED NOVEL ALKBH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389693.1 1 17.751107 KEEP 0 0 0 59 1778 TT 1 1 0 + 14 60 514 0 0 33.522936 286 60 10432 414 ENST00000302708.4 0.046667 1 ALKBH3 221120 __UNKNOWN__ __UNKNOWN__ 11 43919411 43919411 __UNKNOWN__ Intron SNP A A G rs1049427|rs11037720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:43919411A>G ENST00000302708.4 + 8 870 ALKBH3_ENST00000532410.1_Intron NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) NA NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418) endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) TGAAAGTACCATGGAAAAAAT 0.328 NA Direct reversal of damage A||| 1002 0.20008 0.0598 0.2104 5008 , , NA 21891 0.2143 NA 0.1988 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB042029 CCDS7906.1 11p11.2 2013-10-11 ENSG00000166199 ENSG00000166199 221120 Alkylation repair homologs 30141 protein-coding gene gene with protein product 610603 NA 22055184 Standard NM_139178 NM_139178 NA Approved DEPC-1 uc001mxs.2 Q96Q83 OTTHUMG00000166417 ENST00000302708.4:c.460-3655A>G chr11.hg19:g.43919411A>G NA A6NDJ1|Q3SYI0|Q6NX57|Q96BU8 hg19 CCDS7906.1 0.02 2.06162 ACCxTGG COVERED NOVEL ALKBH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389693.1 1 2.405756 KEEP 0 0 0 8 232 AA 0.99257 0.980603 0 + 5 60 176 0 0 12.51379 55 60 1994 68 ENST00000302708.4 0.083333 0.987943 ALKBH3 221120 __UNKNOWN__ __UNKNOWN__ 11 43940644 43940644 __UNKNOWN__ Silent SNP G G T rs1048928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:43940644G>T ENST00000302708.4 + 9 1137 c.726G>T c.(724-726)ggG>ggT p.G242G ALKBH3-AS1_ENST00000499194.1_RNA|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000527960.1_RNA NM_139178.3 NP_631917.1 Q96Q83 ALKB3_HUMAN alkB, alkylation repair homolog 3 (E. coli) 242 Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}. NA cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654) DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418) endometrium(2)|kidney(1)|lung(4)|prostate(1) 8 Vitamin C(DB00126) TGGATCATGGGACCTTGTTAA 0.423 NA Direct reversal of damage G||| 3086 0.616214 0.2958 0.6542 5008 , , NA 23097 0.8373 NA 0.6243 False NA ,,, NA NA NA 2504 0.7863 NA NA NA NA 0 G 1596,2810 497.6+/-363.9 288,1020,895 202 167 179 726 2.8 1 11 dbSNP_86 179 5368,3232 651.2+/-400.8 1671,2026,603 no coding-synonymous ALKBH3 NM_139178.3 1959,3046,1498 TT,TG,GG 37.5814,36.2233,46.4555 242/287 43940644 6964,6042 2203 4300 6503 SO:0001819 synonymous_variant AB042029 CCDS7906.1 11p11.2 2013-10-11 ENSG00000166199 ENSG00000166199 221120 Alkylation repair homologs 30141 protein-coding gene gene with protein product 610603 NA 22055184 Standard NM_139178 NM_139178 NA Approved DEPC-1 uc001mxs.2 Q96Q83 OTTHUMG00000166417 ENST00000302708.4:c.726G>T chr11.hg19:g.43940644G>T NA A6NDJ1|Q3SYI0|Q6NX57|Q96BU8 hg19 CCDS7906.1 0.02 6.210073 TGGxACC COVERED 1346 0.6163003663003663 144 0.2926829268292683 236 0.6519337016574586 487 0.8513986013986014 479 0.6319261213720316 G 9.945 1.218599 0.22373 0.362233 0.624186 ENSG00000166199 ENST00000532129 . . . 5.91 2.83 0.33086 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999711 . . . . . . T 0.13926 -1.0491 3 . . . -24.6034 7.4352 0.27152 0.167:0.1501:0.6829:0.0 rs1048928;rs3188976;rs3740987;rs17499464;rs58267847;rs1048928 . . . Y 112 . . D + 1 0 ALKBH3 43897220 0.997000 0.39634 1.000000 0.80357 0.995000 0.86356 0.148000 0.16224 0.837000 0.34925 0.655000 0.94253 GAC NOVEL ALKBH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389693.1 2 45.747005 KEEP 0 0 0 152 5268 GG 1 1 0 + 17 60 593 0 0 42.165754 183 60 6779 473 ENST00000302708.4 0.085 1 C11orf96 387763 __UNKNOWN__ __UNKNOWN__ 11 43946967 43946967 __UNKNOWN__ Missense_Mutation SNP A A G rs1973717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:43946967A>G ENST00000339446.3 + 1 76 c.76A>G c.(76-78)Acg>Gcg p.T26A RP11-613D13.4_ENST00000526408.1_RNA Q7Z7L8 CK096_HUMAN chromosome 11 open reading frame 96 26 NA T -> A (in dbSNP:rs1973717). pancreas(1) 1 GATCGTCTCCACGCTGCACCA 0.587 NA G||| 3397 0.678315 0.4357 0.7233 5008 , , NA 20005 0.8829 NA 0.6382 False NA ,,, NA NA NA 2504 0.8047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS73275.1 11p11.2 2012-08-10 ENSG00000187479 ENSG00000187479 387763 38675 protein-coding gene gene with protein product NA Standard NM_001145033 NM_001145033 NA Approved AG2 uc010rfl.2 Q7Z7L8 OTTHUMG00000166555 ENST00000339446.3:c.76A>G chr11.hg19:g.43946967A>G ENSP00000340667:p.Thr26Ala NA hg19 0.02 6.772401 TCCxCGC COVERED 1475 0.6753663003663004 216 0.43902439024390244 261 0.7209944751381215 510 0.8916083916083916 488 0.6437994722955145 G 0.008 -1.883391 0.00532 . . ENSG00000187479 ENST00000339446 T 0.13778 2.56 2.56 -5.13 0.02884 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.19289 -1.0310 5 0.87932 D 0 . 7.4701 0.27344 0.5347:0.1152:0.35:0.0 rs1973717;rs56778392;rs1973717 . . . A 26 ENSP00000340667:T26A ENSP00000340667:T26A T + 1 0 C11orf96 43903543 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.247000 0.01190 -3.094000 0.00246 -1.552000 0.00895 ACG NOVEL C11orf96-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 3 41.497852 KEEP 0 0 0 138 4132 AA 1 1 0 + 6 60 222 0 0 13.796567 164 60 5771 393 ENST00000339446.3 0.035294 1 C11orf96 387763 __UNKNOWN__ __UNKNOWN__ 11 43947990 43947990 __UNKNOWN__ Missense_Mutation SNP T T C rs12797684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:43947990T>C ENST00000339446.3 + 2 139 c.139T>C c.(139-141)Tca>Cca p.S47P RP11-613D13.4_ENST00000526408.1_RNA Q7Z7L8 CK096_HUMAN chromosome 11 open reading frame 96 47 NA S -> P (in dbSNP:rs12797684). pancreas(1) 1 CAGGCCACTTTCAAACTCTGT 0.507 NA C||| 3421 0.683107 0.4584 0.7233 5008 , , NA 17089 0.8819 NA 0.6342 False NA ,,, NA NA NA 2504 0.8037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS73275.1 11p11.2 2012-08-10 ENSG00000187479 ENSG00000187479 387763 38675 protein-coding gene gene with protein product NA Standard NM_001145033 NM_001145033 NA Approved AG2 uc010rfl.2 Q7Z7L8 OTTHUMG00000166555 ENST00000339446.3:c.139T>C chr11.hg19:g.43947990T>C ENSP00000340667:p.Ser47Pro NA hg19 0.02 7.411421 CTTxCAA COVERED 1473 0.6744505494505495 217 0.4410569105691057 261 0.7209944751381215 510 0.8916083916083916 485 0.6398416886543535 C 0.005 -2.132513 0.00338 . . ENSG00000187479 ENST00000339446 T 0.15718 2.4 4.47 2.51 0.30379 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.03403 -1.1040 5 0.87932 D 0 . 6.7862 0.23675 0.0:0.6706:0.0:0.3294 rs12797684;rs17601165;rs52816958;rs59776350;rs12797684 . . . P 47 ENSP00000340667:S47P ENSP00000340667:S47P S + 1 0 C11orf96 43904566 0.010000 0.17322 0.003000 0.11579 0.040000 0.13550 0.566000 0.23593 0.190000 0.20209 -0.215000 0.12644 TCA NOVEL C11orf96-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 2 32.492167 KEEP 0 0 0 108 3298 TT 1 1 0 + 9 60 320 0 0 21.492468 145 60 5206 323 ENST00000339446.3 0.058442 1 ACCSL 390110 __UNKNOWN__ __UNKNOWN__ 11 44079831 44079831 __UNKNOWN__ Intron SNP A A G rs12275640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44079831A>G ENST00000378832.1 + 12 1383 NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like NA NA biosynthetic process (GO:0009058) catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 TTTCTGTAGTAATATCTGTGA 0.413 NA A||| 471 0.0940495 0.1437 0.0922 5008 , , NA 20044 0.0605 NA 0.1252 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 A 470,3268 29,412,1428 53 51 52 -7.2 0 11 dbSNP_120 52 893,7321 52,789,3266 no intron ACCSL NM_001031854.2 81,1201,4694 GG,GA,AA 10.8717,12.5736,11.4039 44079831 1363,10589 1869 4107 5976 SO:0001627 intron_variant CCDS41636.1 11p11.2 2008-11-26 ENSG00000205126 ENSG00000205126 390110 34391 protein-coding gene gene with protein product NA Standard NM_001031854 NM_001031854 NA Approved uc001mxw.1 Q4AC99 OTTHUMG00000166426 ENST00000378832.1:c.1328-36A>G chr11.hg19:g.44079831A>G NA hg19 CCDS41636.1 0.02 4.432867 AGTxATA COVERED NOVEL ACCSL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389717.1 0 7.214282 KEEP 0 0 0 24 721 AA 0.999909 0.999908 0 + 6 60 192 0 0 11.871034 113 60 3923 170 ENST00000378832.1 0.05042 0.999998 ACCS 84680 __UNKNOWN__ __UNKNOWN__ 11 44096285 44096285 __UNKNOWN__ Intron SNP T T C rs202091203|rs573201139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44096285T>C ENST00000263776.8 + 5 923 ACCS_ENST00000432284.2_Intron|ACCS_ENST00000533208.1_Intron NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) NA NA biosynthetic process (GO:0009058) catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170) breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 CCTCTCCAtctctttctttct 0.423 NA T||| 9 0.00179712 0.0053 0.0 5008 , , NA 16202 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(158;148 1889 8077 23160 41213) NA 0 56 53 54 NA NA 11 NA 44096285 692 1591 2283 SO:0001627 intron_variant AY026508 CCDS7907.1 11p11 2008-03-12 2008-01-28 ENSG00000110455 ENSG00000110455 84680 23989 protein-coding gene gene with protein product 608405 NA 11470512 Standard NM_032592 NM_032592 NA Approved PHACS, ACS uc009yks.1 Q96QU6 OTTHUMG00000166427 ENST00000263776.8:c.489+54T>C chr11.hg19:g.44096285T>C NA B4E219|Q8WUL4|Q96LX5 hg19 CCDS7907.1 0.02 2.015647 ATCxCTT COVERED NOVEL ACCS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389721.1 2 4.212653 KEEP 0 0 0 14 440 TT 0.995343 0.995112 0 + 4 60 141 0 0 9.049079 79 60 2723 109 ENST00000263776.8 0.048193 0.999768 ALX4 60529 __UNKNOWN__ __UNKNOWN__ 11 44289071 44289071 __UNKNOWN__ Silent SNP G G A rs12419361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44289071G>A ENST00000329255.3 - 3 982 c.879C>T c.(877-879)ctC>ctT p.L293L NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 293 NA anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CTCGGGTGAGGAGGGGCAGCT 0.617 NA G||| 519 0.103634 0.0477 0.0922 5008 , , NA 17040 0.1359 NA 0.1183 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 G 252,4154 145.4+/-180.2 11,230,1962 159 126 137 879 -2.1 0.9 11 dbSNP_120 137 900,7698 201.8+/-245.2 36,828,3435 no coding-synonymous ALX4 NM_021926.3 47,1058,5397 AA,AG,GG 10.4676,5.7195,8.8588 293/412 44289071 1152,11852 2203 4299 6502 SO:0001819 synonymous_variant AF294629 CCDS31468.1 11p11.2 2011-06-20 2008-11-04 ENSG00000052850 ENSG00000052850 60529 Homeoboxes / PRD class 450 protein-coding gene gene with protein product 605420 parietal foramina 2, aristaless-like homeobox 4 PFM2 NA 11017806, 8644736 Standard NM_021926 NA Approved FPP, PFM, KIAA1788 uc001myb.3 Q9H161 OTTHUMG00000166557 ENST00000329255.3:c.879C>T chr11.hg19:g.44289071G>A NA Q96JN7|Q9H198|Q9HAY9 hg19 CCDS31468.1 0.02 8.055607 GAGxAGG COVERED NOVEL ALX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390399.1 1 10.232317 KEEP 0 0 0 34 1163 GG 0.999998 0.999998 0 - 10 60 355 0 0 22.461233 218 60 7758 295 ENST00000329255.3 0.04386 1 CD82 3732 __UNKNOWN__ __UNKNOWN__ 11 44636839 44636839 __UNKNOWN__ Silent SNP C C T rs883752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44636839C>T ENST00000227155.4 + 7 602 c.354C>T c.(352-354)ggC>ggT p.G118G CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.G93G NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 118 NA extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) large_intestine(1)|ovary(1) 2 AGGAGATGGGCGGCATCGTGA 0.612 NA C||| 1143 0.228235 0.1014 0.17 5008 , , NA 19655 0.2748 NA 0.34 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C , 619,3787 269.5+/-269.1 45,529,1629 73 60 64 279,354 -3.8 0 11 dbSNP_86 64 2968,5630 459.1+/-364.8 521,1926,1852 no coding-synonymous,coding-synonymous CD82 NM_001024844.1,NM_002231.3 , 566,2455,3481 TT,TC,CC 34.5197,14.049,27.5838 , 93/243,118/268 44636839 3587,9417 2203 4299 6502 SO:0001819 synonymous_variant U20770 CCDS7909.1, CCDS31469.1 11p11.2 2013-02-14 2006-03-28 2005-03-03 ENSG00000085117 3732 CD molecules, Tetraspanins 6210 protein-coding gene gene with protein product suppression of tumorigenicity 6, R2 leukocyte antigen 600623 kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4)), CD82 antigen ST6, KAI1 NA Standard XM_006718222 NA Approved R2, IA4, TSPAN27 uc001myc.3 P27701 ENST00000227155.4:c.354C>T chr11.hg19:g.44636839C>T NA D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2 hg19 CCDS7909.1 0.02 8.617183 GGGxGGC COVERED NOVEL CD82-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389886.1 2 18.353337 KEEP 0 0 0 61 2097 CC 1 1 0 + 11 60 383 0 0 24.345155 221 60 7729 363 ENST00000227155.4 0.047414 1 CD82 3732 __UNKNOWN__ __UNKNOWN__ 11 44640268 44640268 __UNKNOWN__ Missense_Mutation SNP A A G rs1139971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44640268A>G ENST00000227155.4 + 9 969 c.721A>G c.(721-723)Atc>Gtc p.I241V CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.I216V NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 241 NA I -> V (in dbSNP:rs1139971). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4, ECO:0000269|Ref.8}. II -> MV (in Ref. 2; AAB23825). {ECO:0000305}. extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) large_intestine(1)|ovary(1) 2 TGTGGCCATCATCGAGGTCTG 0.642 NA A||| 2940 0.587061 0.388 0.6311 5008 , , NA 15095 0.502 NA 0.6571 False NA ,,, NA NA NA 2504 0.8405 NA NA NA NA 0 A VAL/ILE,VAL/ILE 1854,2552 537.1+/-374.7 370,1114,719 102 83 89 646,721 0.7 0.7 11 dbSNP_86 89 5759,2839 672.9+/-403.0 1890,1979,430 yes missense,missense CD82 NM_001024844.1,NM_002231.3 29,29 2260,3093,1149 GG,GA,AA 33.0193,42.079,41.4565 benign,benign 216/243,241/268 44640268 7613,5391 2203 4299 6502 SO:0001583 missense U20770 CCDS7909.1, CCDS31469.1 11p11.2 2013-02-14 2006-03-28 2005-03-03 ENSG00000085117 3732 CD molecules, Tetraspanins 6210 protein-coding gene gene with protein product suppression of tumorigenicity 6, R2 leukocyte antigen 600623 kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4)), CD82 antigen ST6, KAI1 NA Standard XM_006718222 NA Approved R2, IA4, TSPAN27 uc001myc.3 P27701 ENST00000227155.4:c.721A>G chr11.hg19:g.44640268A>G ENSP00000227155:p.Ile241Val NA D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2 hg19 CCDS7909.1 0.02 13.097225 ATCxTCG COVERED 1200 0.5494505494505495 193 0.39227642276422764 230 0.6353591160220995 274 0.479020979020979 503 0.6635883905013192 A 5.992 0.366980 0.11352 0.42079 0.669807 ENSG00000085117 ENST00000227155;ENST00000342935 T;T 0.80214 -1.35;-1.35 4.32 0.664 0.17890 . 0.518909 0.20303 N 0.094998 T 0.00012 0.0000 L 0.37897 1.145 0.09310 P 1.0 B;B 0.19935 0.04;0.016 B;B 0.24974 0.057;0.024 T 0.46345 -0.9198 9 0.17832 T 0.49 . 6.1582 0.20350 0.6605:0.0:0.3395:0.0 rs1139971;rs3204038;rs11541053;rs12790100;rs17404342;rs17844860;rs17857575;rs17857656;rs57026608;rs1139971 216;241 E9PC70;P27701 .;CD82_HUMAN V 241;216 ENSP00000227155:I241V;ENSP00000339686:I216V ENSP00000227155:I241V I + 1 0 CD82 44596844 0.958000 0.32768 0.691000 0.30163 0.044000 0.14063 0.750000 0.26334 -0.153000 0.11137 0.260000 0.18958 ATC NOVEL CD82-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389886.1 3 15.84209 KEEP 0 3 89 84 2520 AA 1 1 0 + 15 60 513 0 0 31.907488 319 60 11524 505 ENST00000227155.4 0.04491 1 TSPAN18 90139 __UNKNOWN__ __UNKNOWN__ 11 44919495 44919495 __UNKNOWN__ Intron SNP C C T rs10838380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44919495C>T ENST00000520358.2 + 4 405 TSPAN18_ENST00000340160.3_Intron Q96SJ8 TSN18_HUMAN tetraspanin 18 NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(6)|lung(3) 10 GTGTCTCCTTCGGTCTTTCCC 0.473 NA C||| 1923 0.383986 0.0477 0.451 5008 , , NA 19797 0.63 NA 0.4006 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358087 CCDS7910.1 11p11.2 2013-02-14 ENSG00000157570 90139 Tetraspanins 20660 protein-coding gene gene with protein product NA 11756464 Standard NM_130783 NM_130783 NA Approved TSPAN uc001mye.4 Q96SJ8 ENST00000520358.2:c.-10-8463C>T chr11.hg19:g.44919495C>T NA Q6UY44|Q8NBI9 hg19 CCDS7910.1 0.02 6.403648 CTTxGGT COVERED NOVEL TSPAN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376197.3 0 4.814676 KEEP 0 0 0 16 514 CC 0.997832 0.997832 0 + 14 60 509 0 0 36.302108 164 60 5233 197 ENST00000520358.2 0.078652 1 TSPAN18 90139 __UNKNOWN__ __UNKNOWN__ 11 44928135 44928135 __UNKNOWN__ Intron SNP G G A rs2306665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44928135G>A ENST00000520358.2 + 4 478 TSPAN18_ENST00000340160.3_Intron Q96SJ8 TSN18_HUMAN tetraspanin 18 NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(6)|lung(3) 10 CACAGGGGCCGGCGCTAGAGG 0.627 NA G||| 2379 0.47504 0.3812 0.4856 5008 , , NA 14081 0.5923 NA 0.4046 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358087 CCDS7910.1 11p11.2 2013-02-14 ENSG00000157570 90139 Tetraspanins 20660 protein-coding gene gene with protein product NA 11756464 Standard NM_130783 NM_130783 NA Approved TSPAN uc001mye.4 Q96SJ8 ENST00000520358.2:c.63+105G>A chr11.hg19:g.44928135G>A NA Q6UY44|Q8NBI9 hg19 CCDS7910.1 0.02 1.968373 GCCxGCG COVERED NOVEL TSPAN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376197.3 0 2.407489 KEEP 0 0 0 8 260 GG 0.99257 0.991982 0 + 10 60 375 0 0 29.068031 72 60 2591 99 ENST00000520358.2 0.121951 0.999407 TSPAN18 90139 __UNKNOWN__ __UNKNOWN__ 11 44940828 44940828 __UNKNOWN__ Missense_Mutation SNP G G A rs2291334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44940828G>A ENST00000520358.2 + 7 812 c.397G>A c.(397-399)Gtc>Atc p.V133I TSPAN18_ENST00000340160.3_Missense_Mutation_p.V133I Q96SJ8 TSN18_HUMAN tetraspanin 18 133 NA V -> I (in dbSNP:rs2291334). {ECO:0000269|PubMed:12975309}. integral component of membrane (GO:0016021) endometrium(1)|large_intestine(6)|lung(3) 10 CGACACAGACGTCTTCTCTGC 0.557 NA G||| 1738 0.347045 0.034 0.415 5008 , , NA 21259 0.5575 NA 0.329 False NA ,,, NA NA NA 2504 0.5235 NA NA NA NA 0 G ILE/VAL 440,3966 212.5+/-232.4 25,390,1788 199 154 170 397 2.4 0.5 11 dbSNP_100 170 2937,5661 458.0+/-364.5 502,1933,1864 yes missense TSPAN18 NM_130783.4 29 527,2323,3652 AA,AG,GG 34.1591,9.9864,25.9689 benign 133/249 44940828 3377,9627 2203 4299 6502 SO:0001583 missense AY358087 CCDS7910.1 11p11.2 2013-02-14 ENSG00000157570 90139 Tetraspanins 20660 protein-coding gene gene with protein product NA 11756464 Standard NM_130783 NM_130783 NA Approved TSPAN uc001mye.4 Q96SJ8 ENST00000520358.2:c.397G>A chr11.hg19:g.44940828G>A ENSP00000429993:p.Val133Ile NA Q6UY44|Q8NBI9 hg19 CCDS7910.1 0.02 6.897801 GACxTCT COVERED 743|743 0.3402014652014652|0.3402014652014652 20|20 0.04065040650406504|0.04065040650406504 154|154 0.425414364640884|0.425414364640884 316|316 0.5524475524475524|0.5524475524475524 253|253 0.3337730870712401|0.3337730870712401 G|G 11.55|11.55 1.671289|1.671289 0.29693|0.29693 0.099864|0.099864 0.341591|0.341591 ENSG00000157570|ENSG00000157570 ENST00000518429|ENST00000533786;ENST00000533080;ENST00000520358;ENST00000520999;ENST00000340160 .|T;D;D;T;D .|0.86956 .|-1.27;-2.19;-2.19;-1.27;-2.19 5.29|5.29 2.4|2.4 0.29515|0.29515 .|Tetraspanin, EC2 domain (1); .|0.405863 .|0.28989 .|N .|0.013489 T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.38838|0.38838 1.175|1.175 0.09310|0.09310 P|P 0.9999999999999999|0.9999999999999999 .|B;B .|0.32302 .|0.205;0.363 .|B;B .|0.34385 .|0.04;0.181 T|T 0.44651|0.44651 -0.9314|-0.9314 4|9 .|0.36615 .|T .|0.2 .|. 9.2617|9.2617 0.37616|0.37616 0.2416:0.0:0.7584:0.0|0.2416:0.0:0.7584:0.0 rs2291334;rs17787220;rs58600094;rs2291334|rs2291334;rs17787220;rs58600094;rs2291334 .|133;133 .|Q8WUV1;Q96SJ8 .|.;TSN18_HUMAN H|I 136|133;68;133;143;133 .|ENSP00000433592:V133I;ENSP00000433362:V68I;ENSP00000429993:V133I;ENSP00000427942:V143I;ENSP00000339820:V133I .|ENSP00000339820:V133I R|V +|+ 2|1 0|0 TSPAN18|TSPAN18 44897404|44897404 1.000000|1.000000 0.71417|0.71417 0.546000|0.546000 0.28166|0.28166 0.227000|0.227000 0.25037|0.25037 5.142000|5.142000 0.64820|0.64820 0.622000|0.622000 0.30249|0.30249 0.462000|0.462000 0.41574|0.41574 CGT|GTC NOVEL TSPAN18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000376197.3 1 10.232225 KEEP 0 0 0 34 1153 GG 0.999998 0.999998 0 + 11 60 398 0 0 27.445076 156 60 5461 251 ENST00000520358.2 0.065868 1 TP53I11 9537 __UNKNOWN__ __UNKNOWN__ 11 44955114 44955114 __UNKNOWN__ 3'UTR SNP C C T rs2592187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:44955114C>T ENST00000533940.1 - 0 2495 TP53I11_ENST00000395648.3_3'UTR|TP53I11_ENST00000308212.5_3'UTR|TP53I11_ENST00000525680.1_3'UTR NM_001258320.1 NP_001245249.1 O14683 P5I11_HUMAN tumor protein p53 inducible protein 11 NA NA negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950) integral component of membrane (GO:0016021) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1) 5 AGAAGCTGGGCGGTGGGTATG 0.662 NA c||| 2569 0.512979 0.2912 0.5648 5008 , , NA 16405 0.7044 NA 0.4205 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010315 CCDS7911.1 11p11.2 2005-09-22 ENSG00000175274 9537 16842 protein-coding gene gene with protein product NA 9305847 Standard NM_006034 NM_006034 NA Approved PIG11 uc001myk.3 O14683 ENST00000533940.1:c.*1321G>A chr11.hg19:g.44955114C>T NA Q3ZCS0 hg19 CCDS7911.1 0.02 6.245048 GGGxGGT COVERED NOVEL TP53I11-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389909.1 1 3.306284 KEEP 0 1 31 22 681 CC 0.999892 0.999892 0 - 9 60 276 0 0 17.195209 142 60 4646 199 ENST00000533940.1 0.059603 1 CTD-2210P24.4 0 __UNKNOWN__ __UNKNOWN__ 11 45793023 45793023 __UNKNOWN__ 5'UTR SNP T T G rs2666890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:45793023T>G ENST00000378779.2 + 0 41 NA NA NA AGCTTCGGAGTTATGGGGGGA 0.582 NA OREG0020933 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1039 0.207468 0.1687 0.2406 5008 , , NA 17065 0.4613 NA 0.0765 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000378779.2:c.-113T>G chr11.hg19:g.45793023T>G 934 hg19 0.02 1.672691 GAGxTAT COVERED NOVEL CTD-2210P24.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000390137.1 0 7.821653 KEEP 0 0 0 26 776 TT 0.999957 0.999851 0 + 5 60 159 0 0 9.885694 87 60 2832 139 ENST00000378779.2 0.054348 0.999895 CTD-2210P24.4 0 __UNKNOWN__ __UNKNOWN__ 11 45793154 45793154 __UNKNOWN__ Missense_Mutation SNP A A C rs3740704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:45793154A>C ENST00000378779.2 + 1 172 c.19A>C c.(19-21)Act>Cct p.T7P NA NA NA TGGGGCAGAAACTGTCACTGT 0.607 NA OREG0020933 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1200 0.239617 0.5227 0.1282 5008 , , NA 18600 0.1508 NA 0.1243 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000378779.2:c.19A>C chr11.hg19:g.45793154A>C ENSP00000368055:p.Thr7Pro 934 hg19 0.02 10.475297 GAAxCTG COVERED 495 0.22664835164835165 261 0.5304878048780488 51 0.1408839779005525 83 0.1451048951048951 100 0.13192612137203166 C 2.825 -0.243945 0.05906 . . ENSG00000205106 ENST00000378779 . . . 2.96 -5.91 0.02269 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.33803 -0.9854 6 0.87932 D 0 . 1.1842 0.01851 0.2489:0.3586:0.1213:0.2711 rs3740704;rs16926635;rs59897782;rs3740704 7 E7ER63 . P 7 . ENSP00000368055:T7P T + 1 0 CTD-2210P24.4 45749730 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -3.610000 0.00415 -4.301000 0.00058 -1.124000 0.02001 ACT NOVEL CTD-2210P24.4-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000390137.1 2 28.567572 KEEP 0 0 0 95 2934 AA 1 1 0 + 9 60 321 0 0 19.128563 271 60 9637 467 ENST00000378779.2 0.032143 1 SLC35C1 55343 __UNKNOWN__ __UNKNOWN__ 11 45833960 45833960 __UNKNOWN__ 3'UTR SNP C C T rs4756026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:45833960C>T ENST00000314134.3 + 0 3565 SLC35C1_ENST00000456334.1_3'UTR NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 NA NA carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) GTTAGTCCAGcgagctcctat 0.547 NA C||| 624 0.124601 0.0212 0.147 5008 , , NA 19047 0.1022 NA 0.2406 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7914.1, CCDS44575.1 11p11.2 2014-09-17 2013-07-17 ENSG00000181830 55343 Solute carriers 20197 protein-coding gene gene with protein product 605881 solute carrier family 35, member C1 NA 11326279, 11326280 Standard NM_018389 NM_018389 NA Approved FUCT1, FLJ11320 uc010rgm.2 Q96A29 ENST00000314134.3:c.*1074C>T chr11.hg19:g.45833960C>T NA B2RDB2|Q9BV76|Q9NUJ8 hg19 CCDS7914.1 0.02 3.962938 CAGxGAG COVERED NOVEL SLC35C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390139.1 1 7.223112 KEEP 0 0 0 24 816 CC 0.999909 0.999909 0 + 5 60 179 0 0 11.139689 122 60 4099 163 ENST00000314134.3 0.03937 1 SLC35C1 55343 __UNKNOWN__ __UNKNOWN__ 11 45834201 45834201 __UNKNOWN__ 3'UTR SNP C C T rs55758172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:45834201C>T ENST00000314134.3 + 0 3806 SLC35C1_ENST00000456334.1_3'UTR NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 NA NA carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) atgagggttccgcccccatga 0.522 NA C||| 624 0.124601 0.0212 0.147 5008 , , NA 18027 0.1012 NA 0.2416 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7914.1, CCDS44575.1 11p11.2 2014-09-17 2013-07-17 ENSG00000181830 55343 Solute carriers 20197 protein-coding gene gene with protein product 605881 solute carrier family 35, member C1 NA 11326279, 11326280 Standard NM_018389 NM_018389 NA Approved FUCT1, FLJ11320 uc010rgm.2 Q96A29 ENST00000314134.3:c.*1315C>T chr11.hg19:g.45834201C>T NA B2RDB2|Q9BV76|Q9NUJ8 hg19 CCDS7914.1 0.02 17.145743 TTCxGCC COVERED NOVEL SLC35C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390139.1 2 18.357899 KEEP 0 0 0 61 2083 CC 1 1 0 + 12 60 474 0 0 30.268981 349 60 11890 515 ENST00000314134.3 0.033241 1 PEX16 9409 __UNKNOWN__ __UNKNOWN__ 11 45937860 45937860 __UNKNOWN__ Intron SNP G G A rs78883829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:45937860G>A ENST00000378750.5 - 3 392 PEX16_ENST00000532681.1_Intron|PEX16_ENST00000241041.3_Intron|PEX16_ENST00000532554.1_Intron Q9Y5Y5 PEX16_HUMAN peroxisomal biogenesis factor 16 NA NA ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) protein C-terminus binding (GO:0008022) large_intestine(2)|lung(2)|ovary(2)|skin(1) 7 GBM - Glioblastoma multiforme(35;0.223) GTACACTGAGGGGTAGAGAGT 0.557 NA G||| 28 0.00559105 0.0 0.0 5008 , , NA 21602 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 189 172 178 NA NA 11 NA 45937860 2203 4299 6502 SO:0001627 intron_variant AF118240 CCDS7917.1, CCDS31472.1 11p 2007-12-14 ENSG00000121680 ENSG00000121680 9409 8857 protein-coding gene gene with protein product 603360 NA 9922452 Standard NM_057174 NM_057174 NA Approved uc001nbt.3 Q9Y5Y5 OTTHUMG00000167005 ENST00000378750.5:c.149-6C>T chr11.hg19:g.45937860G>A NA Q9BWB9 hg19 CCDS31472.1 0.02 4.455613 GAGxGGT COVERED NOVEL PEX16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392398.1 1 14.986625 KEEP 0 0 0 50 1729 GG 1 1 0 - 7 60 257 0 0 16.998681 132 60 4780 231 ENST00000378750.5 0.05036 1 ATG13 9776 __UNKNOWN__ __UNKNOWN__ 11 46686260 46686260 __UNKNOWN__ Intron SNP G G A rs10838610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46686260G>A ENST00000530500.1 + 10 1048 ATG13_ENST00000524625.1_Intron|ATG13_ENST00000526508.1_Intron|ATG13_ENST00000359513.4_Intron|ATG13_ENST00000451945.1_Intron|ATG13_ENST00000528494.1_Intron|ATG13_ENST00000434074.1_Intron|ATG13_ENST00000529655.1_Intron|ATG13_ENST00000312040.4_Intron NM_001205122.1 NP_001192051.1 O75143 ATG13_HUMAN autophagy related 13 NA NA autophagic vacuole assembly (GO:0000045) ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969) protein kinase binding (GO:0019901) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 CCCCTATCACGTCAGGCCCCC 0.507 NA G||| 2857 0.570487 0.0877 0.7695 5008 , , NA 19046 0.8681 NA 0.6879 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014552 CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1 11p11.2 2014-02-12 2012-06-06 2010-06-29 ENSG00000175224 ENSG00000175224 9776 29091 protein-coding gene gene with protein product 615088 KIAA0652, ATG13 autophagy related 13 homolog (S. cerevisiae) KIAA0652 NA 15169610, 18339812, 17204848 Standard NM_014741 NM_001205120 NA Approved uc001nda.3 O75143 OTTHUMG00000166538 ENST00000530500.1:c.553-673G>A chr11.hg19:g.46686260G>A NA B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0 hg19 CCDS55761.1 0.02 8.936683 CACxTCA COVERED NOVEL ATG13-005 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000390296.1 2 10.833234 KEEP 0 0 0 36 1152 GG 0.999999 0.999999 0 + 11 60 384 0 0 25.011739 196 60 6371 264 ENST00000530500.1 0.05314 1 ARHGAP1 392 __UNKNOWN__ __UNKNOWN__ 11 46701728 46701728 __UNKNOWN__ Intron SNP G G T rs10838612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46701728G>T ENST00000311956.4 - 10 996 NM_004308.3 NP_004299.1 Q07960 RHG01_HUMAN Rho GTPase activating protein 1 NA NA positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726) Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070) endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11) GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153) CACACATATGGCCCTGCAACA 0.592 NA G||| 1009 0.201478 0.003 0.1873 5008 , , NA 19161 0.5972 NA 0.1044 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 G 124,4278 90.2+/-128.9 2,120,2079 103 91 95 -8.3 0 11 dbSNP_120 95 851,7747 194.2+/-239.7 43,765,3491 no intron ARHGAP1 NM_004308.2 45,885,5570 TT,TG,GG 9.8977,2.8169,7.5 46701728 975,12025 2201 4299 6500 SO:0001627 intron_variant BC018118 CCDS7922.1 11p11.2 2006-04-11 ENSG00000175220 ENSG00000175220 392 Rho GTPase activating proteins 673 protein-coding gene gene with protein product 602732 NA 8288572 Standard NM_004308 NM_004308 NA Approved RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP uc001ndd.4 Q07960 OTTHUMG00000166567 ENST00000311956.4:c.898+26C>A chr11.hg19:g.46701728G>T NA D3DQQ6 hg19 CCDS7922.1 0.02 8.364532 ATGxCCC COVERED NOVEL ARHGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390472.1 1 30.097001 KEEP 0 0 0 100 3556 GG 1 1 0 - 15 60 544 0 0 37.254847 223 60 8270 438 ENST00000311956.4 0.063025 1 F2 2147 __UNKNOWN__ __UNKNOWN__ 11 46744925 46744925 __UNKNOWN__ Intron SNP G G C rs2070852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46744925G>C ENST00000311907.5 + 6 478 F2_ENST00000530231.1_Intron NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) NA NA acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611) blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053) p.?(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898) GCAATTTCCTGTTCCAGAATC 0.587 NA G||| 2280 0.455272 0.1263 0.5836 5008 , , NA 17731 0.3026 NA 0.7078 False NA ,,, NA NA NA 2504 0.7065 NA NA NA Esophageal Squamous(147;1147 1808 2148 38609 51144) NA 1 Unknown(1) stomach(1) G 1015,3387 376.3+/-322.0 134,747,1320 60 62 61 -9.8 0 11 dbSNP_96 61 5984,2614 687.7+/-404.2 2086,1812,401 no intron F2 NM_000506.3 2220,2559,1721 CC,CG,GG 30.4024,23.0577,46.1615 46744925 6999,6001 2201 4299 6500 SO:0001627 intron_variant M33031 CCDS31476.1 11p11.2 2013-02-28 ENSG00000180210 ENSG00000180210 2147 3.4.21.5 Endogenous ligands 3535 protein-coding gene gene with protein product prepro-coagulation factor II 176930 NA Standard NM_000506 NA Approved uc001ndf.4 P00734 OTTHUMG00000150344 ENST00000311907.5:c.423-7G>C chr11.hg19:g.46744925G>C NA B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1 hg19 CCDS31476.1 0.02 20.859978 CCTxTTC COVERED NOVEL F2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317706.1 0 20.466305 KEEP 0 0 0 68 2408 GG 1 1 0 + 19 60 709 0 0 45.212182 463 60 17492 679 ENST00000311907.5 0.039419 1 LRP4 4038 __UNKNOWN__ __UNKNOWN__ 11 46879517 46879517 __UNKNOWN__ 3'UTR SNP G G A rs10838623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46879517G>A ENST00000378623.1 - 0 6977 LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 NA NA dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060) calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CAACCTGATCGTTCTTTCTGA 0.463 NA G||| 306 0.0611022 0.0008 0.0014 5008 , , NA 21818 0.2887 NA 0.001 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011540 CCDS31478.1 11p11.2 2013-05-29 ENSG00000134569 ENSG00000134569 4038 Low density lipoprotein receptors 6696 protein-coding gene gene with protein product 604270 NA 9693030 Standard NM_002334 NM_002334 NA Approved MEGF7, CLSS, LRP-4, SOST2 uc001ndn.4 O75096 OTTHUMG00000166700 ENST00000378623.1:c.*1017C>T chr11.hg19:g.46879517G>A NA B2RN39|Q4AC85|Q5KTZ5 hg19 CCDS31478.1 0.02 10.986522 ATCxTTC COVERED NOVEL LRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391133.1 2 33.101905 KEEP 0 0 0 110 3762 GG 1 1 0 - 9 60 312 0 0 18.112897 282 60 10046 503 ENST00000378623.1 0.030928 1 LRP4 4038 __UNKNOWN__ __UNKNOWN__ 11 46890197 46890197 __UNKNOWN__ Silent SNP G G A rs2290883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46890197G>A ENST00000378623.1 - 33 5147 c.4905C>T c.(4903-4905)ttC>ttT p.F1635F LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1635 NA dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060) calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AGGCACATACGAAGTCCGAGG 0.582 NA .||| 1098 0.219249 0.0045 0.2781 5008 , , NA 18416 0.6101 NA 0.1193 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 G 148,4254 3,142,2056 87 79 82 4905 -2.5 1 11 dbSNP_100 82 1052,7546 55,942,3302 no coding-synonymous LRP4 NM_002334.3 58,1084,5358 AA,AG,GG 12.2354,3.3621,9.2308 1635/1906 46890197 1200,11800 2201 4299 6500 SO:0001819 synonymous_variant AB011540 CCDS31478.1 11p11.2 2013-05-29 ENSG00000134569 ENSG00000134569 4038 Low density lipoprotein receptors 6696 protein-coding gene gene with protein product 604270 NA 9693030 Standard NM_002334 NM_002334 NA Approved MEGF7, CLSS, LRP-4, SOST2 uc001ndn.4 O75096 OTTHUMG00000166700 ENST00000378623.1:c.4905C>T chr11.hg19:g.46890197G>A NA B2RN39|Q4AC85|Q5KTZ5 hg19 CCDS31478.1 0.02 9.044153 TACxAAG COVERED NOVEL LRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391133.1 0 16.988736 KEEP 0 1 33 68 2307 GG 1 1 0 - 7 60 265 0 0 16.576383 199 60 6806 342 ENST00000378623.1 0.033981 1 LRP4 4038 __UNKNOWN__ __UNKNOWN__ 11 46897446 46897446 __UNKNOWN__ Missense_Mutation SNP G G A rs2306033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46897446G>A ENST00000378623.1 - 26 3850 c.3608C>T c.(3607-3609)gCg>gTg p.A1203V NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1203 NA A -> V (in dbSNP:rs2306033). dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060) calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GATGAGCACCGCGCGGTCTGA 0.542 NA G||| 1098 0.219249 0.0045 0.2781 5008 , , NA 20112 0.6101 NA 0.1193 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 G VAL/ALA 148,4254 101.6+/-140.2 3,142,2056 131 99 110 3608 5.7 0 11 dbSNP_100 110 1051,7547 222.0+/-259.2 55,941,3303 yes missense LRP4 NM_002334.3 64 58,1083,5359 AA,AG,GG 12.2238,3.3621,9.2231 benign 1203/1906 46897446 1199,11801 2201 4299 6500 SO:0001583 missense AB011540 CCDS31478.1 11p11.2 2013-05-29 ENSG00000134569 ENSG00000134569 4038 Low density lipoprotein receptors 6696 protein-coding gene gene with protein product 604270 NA 9693030 Standard NM_002334 NM_002334 NA Approved MEGF7, CLSS, LRP-4, SOST2 uc001ndn.4 O75096 OTTHUMG00000166700 ENST00000378623.1:c.3608C>T chr11.hg19:g.46897446G>A ENSP00000367888:p.Ala1203Val NA B2RN39|Q4AC85|Q5KTZ5 hg19 CCDS31478.1 0.02 13.955498 ACCxCGC COVERED 537 0.24587912087912087 4 0.008130081300813009 98 0.27071823204419887 332 0.5804195804195804 103 0.1358839050131926 G 0.720 -0.783875 0.02907 0.033621 0.122238 ENSG00000134569 ENST00000378623 D 0.93811 -3.29 5.71 5.71 0.89125 Six-bladed beta-propeller, TolB-like (1); 0.497398 0.23189 N 0.050940 T 0.00012 0.0000 N 0.02202 -0.64 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.36187 -0.9758 9 0.20046 T 0.44 . 7.4774 0.27385 0.1975:0.0:0.8025:0.0 rs2306033;rs17197332;rs52799813;rs56867112;rs2306033 1203 O75096 LRP4_HUMAN V 1203 ENSP00000367888:A1203V ENSP00000367888:A1203V A - 2 0 LRP4 46854022 0.599000 0.26891 0.021000 0.16686 0.212000 0.24457 3.696000 0.54757 2.704000 0.92352 0.555000 0.69702 GCG NOVEL LRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391133.1 2 10.671073 KEEP 0 3 89 67 2223 GG 1 1 0 - 13 60 450 0 0 26.923704 348 60 12153 522 ENST00000378623.1 0.036011 1 LRP4 4038 __UNKNOWN__ __UNKNOWN__ 11 46900659 46900659 __UNKNOWN__ Intron SNP G G T rs2306028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:46900659G>T ENST00000378623.1 - 21 3247 NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 NA NA dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055) cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060) calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110) breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AAGCCAATGCGAGCCAAGGGC 0.602 NA G||| 1096 0.21885 0.0045 0.2723 5008 , , NA 18977 0.6121 NA 0.1193 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 G 148,4254 100.7+/-139.4 3,142,2056 122 140 134 -10.8 0 11 dbSNP_100 134 1051,7547 222.0+/-259.2 55,941,3303 no intron LRP4 NM_002334.3 58,1083,5359 TT,TG,GG 12.2238,3.3621,9.2231 46900659 1199,11801 2201 4299 6500 SO:0001627 intron_variant AB011540 CCDS31478.1 11p11.2 2013-05-29 ENSG00000134569 ENSG00000134569 4038 Low density lipoprotein receptors 6696 protein-coding gene gene with protein product 604270 NA 9693030 Standard NM_002334 NM_002334 NA Approved MEGF7, CLSS, LRP-4, SOST2 uc001ndn.4 O75096 OTTHUMG00000166700 ENST00000378623.1:c.3004+17C>A chr11.hg19:g.46900659G>T NA B2RN39|Q4AC85|Q5KTZ5 hg19 CCDS31478.1 0.02 5.980445 TGCxAGC COVERED NOVEL LRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391133.1 3 12.271934 KEEP 0 2 57 61 2028 GG 1 1 0 - 8 60 278 0 0 17.191831 184 60 6493 311 ENST00000378623.1 0.041667 1 ARFGAP2 84364 __UNKNOWN__ __UNKNOWN__ 11 47186424 47186424 __UNKNOWN__ 3'UTR SNP C C A rs1055447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47186424C>A ENST00000524782.1 - 0 2403 ARFGAP2_ENST00000426335.2_3'UTR NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 NA NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CCGGTCTGATCCCAAATGAAA 0.537 NA C||| 2464 0.492013 0.4781 0.5072 5008 , , NA 18819 0.2708 NA 0.5288 False NA ,,, NA NA NA 2504 0.6902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027482 CCDS7926.1, CCDS73283.1 11p11.2-p11.12 2012-10-05 2008-01-09 2008-01-09 ENSG00000149182 ENSG00000149182 84364 ADP-ribosylation factor GTPase activating proteins 13504 protein-coding gene gene with protein product 606908 zinc finger protein 289, ID1 regulated ZNF289 NA 11278321, 14690497 Standard NM_032389 NM_032389 NA Approved IRZ, Zfp289, FLJ14576 uc001ndt.3 Q8N6H7 OTTHUMG00000166773 ENST00000524782.1:c.*609G>T chr11.hg19:g.47186424C>A NA B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7 hg19 CCDS7926.1 0.02 7.674604 GATxCCA COVERED NOVEL ARFGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391425.1 2 24.077153 KEEP 0 0 0 80 2784 CC 1 1 0 - 7 60 246 0 0 14.24807 230 60 8564 381 ENST00000524782.1 0.029536 1 MADD 8567 __UNKNOWN__ __UNKNOWN__ 11 47306585 47306585 __UNKNOWN__ Missense_Mutation SNP G G A rs1051006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47306585G>A ENST00000311027.5 + 13 2416 c.2251G>A c.(2251-2253)Gtg>Atg p.V751M MADD_ENST00000395336.3_Missense_Mutation_p.V751M|MADD_ENST00000395344.3_Missense_Mutation_p.V751M|MADD_ENST00000402799.1_Missense_Mutation_p.V751M|MADD_ENST00000406482.1_Missense_Mutation_p.V751M|MADD_ENST00000342922.4_Missense_Mutation_p.V751M|MADD_ENST00000402192.2_Missense_Mutation_p.V751M|MADD_ENST00000407859.3_Missense_Mutation_p.V751M|MADD_ENST00000349238.3_Missense_Mutation_p.V751M NM_003682.3 NP_003673.3 MAP-kinase activating death domain NA NA breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CAAATCGAACGTGGACAGACG 0.552 NA G||| 1678 0.335064 0.3873 0.2608 5008 , , NA 19647 0.622 NA 0.162 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 G MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL 1517,2885 481.4+/-359.1 266,985,950 91 88 89 2251,2251,2251,2251,2251,2251,2251,2251,2251,2251 -5.5 0 11 dbSNP_86 89 1414,7182 271.7+/-289.7 118,1178,3002 yes missense,missense,missense,missense,missense,missense,missense,missense,missense,missense MADD NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2 21,21,21,21,21,21,21,21,21,21 384,2163,3952 AA,AG,GG 16.4495,34.4616,22.5496 benign,benign,benign,benign,benign,benign,benign,benign,benign,benign 751/1545,751/1542,751/1648,751/1589,751/1566,751/1546,751/1609,751/1480,751/1582,751/1588 47306585 2931,10067 2201 4298 6499 SO:0001583 missense AB002356 CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1 11p11.2 2012-10-04 ENSG00000110514 ENSG00000110514 8567 DENN/MADD domain containing 6766 protein-coding gene gene with protein product 603584 NA 9115275, 9796103 Standard NM_130476 NA Approved DENN, KIAA0358, RAB3GEP uc001ner.1 Q8WXG6 OTTHUMG00000150350 ENST00000311027.5:c.2251G>A chr11.hg19:g.47306585G>A ENSP00000310933:p.Val751Met NA hg19 CCDS7930.1 0.02 8.619171 AACxTGG COVERED 711 0.32554945054945056 153 0.31097560975609756 100 0.27624309392265195 331 0.5786713286713286 127 0.16754617414248021 G 11.28 1.593369 0.28357 0.344616 0.164495 ENSG00000110514 ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192 T;T;T;T;T;T;T;T;T 0.06068 3.42;3.35;3.35;3.41;3.4;3.36;3.36;3.4;3.42 5.88 -5.48 0.02592 . 0.643077 0.16526 N 0.210600 T 0.00012 0.0000 N 0.02011 -0.69 0.58432 P 1.999999999946489E-6 B;B;B;B;B;B;B;B;B;B 0.27932 0.122;0.008;0.006;0.013;0.062;0.194;0.002;0.006;0.003;0.003 B;B;B;B;B;B;B;B;B;B 0.20577 0.014;0.001;0.005;0.004;0.012;0.03;0.002;0.004;0.002;0.005 T 0.37549 -0.9701 9 0.35671 T 0.21 0.0134 4.5741 0.12225 0.5719:0.1332:0.1482:0.1467 rs1051006;rs3736103;rs17702266;rs58641924;rs1051006 751;751;751;751;751;751;751;751;751;751 B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3 .;.;.;.;.;.;.;.;MADD_HUMAN;. M 751 ENSP00000343902:V751M;ENSP00000385585:V751M;ENSP00000384435:V751M;ENSP00000304505:V751M;ENSP00000310933:V751M;ENSP00000384204:V751M;ENSP00000378753:V751M;ENSP00000378745:V751M;ENSP00000384287:V751M ENSP00000310933:V751M V + 1 0 MADD 47263161 0.000000 0.05858 0.000000 0.03702 0.994000 0.84299 -0.823000 0.04443 -0.592000 0.05851 0.655000 0.94253 GTG NOVEL MADD-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317746.1 2 13.978661 KEEP 0 1 33 58 1975 GG 1 1 0 + 8 60 283 0 0 17.024029 224 60 7806 350 ENST00000311027.5 0.034483 1 MADD 8567 __UNKNOWN__ __UNKNOWN__ 11 47331218 47331218 __UNKNOWN__ Intron SNP T T C rs576037622 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47331218T>C ENST00000311027.5 + 28 4323 MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000405573.2_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Intron NM_003682.3 NP_003673.3 MAP-kinase activating death domain NA NA breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GCAAGGCTTGTTCCTGTCGCC 0.493 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 20526 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002356 CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1 11p11.2 2012-10-04 ENSG00000110514 ENSG00000110514 8567 DENN/MADD domain containing 6766 protein-coding gene gene with protein product 603584 NA 9115275, 9796103 Standard NM_130476 NA Approved DENN, KIAA0358, RAB3GEP uc001ner.1 Q8WXG6 OTTHUMG00000150350 ENST00000311027.5:c.4158+55T>C chr11.hg19:g.47331218T>C NA hg19 CCDS7930.1 0.02 2.224712 TTGxTCC COVERED NOVEL MADD-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317746.1 1 5.115631 KEEP 0 0 0 17 540 TT 0.999366 0.999093 0 + 6 60 237 0 0 17.084487 81 60 2834 110 ENST00000311027.5 0.068966 0.999726 MADD 8567 __UNKNOWN__ __UNKNOWN__ 11 47346145 47346145 __UNKNOWN__ Intron SNP G G A rs2290148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47346145G>A ENST00000311027.5 + 33 4887 MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000405573.2_Missense_Mutation_p.S390N|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Intron NM_003682.3 NP_003673.3 MAP-kinase activating death domain NA NA breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GCGAGCGGCAGCACGAGGCTC 0.582 NA G||| 1785 0.35643 0.469 0.2637 5008 , , NA 19867 0.622 NA 0.162 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 G ,,,,,,,,, 1860,2542 534.5+/-374.0 377,1106,718 53 48 50 ,,,,,,,,, -0.1 0 11 dbSNP_100 50 1427,7169 270.9+/-289.3 121,1185,2992 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron MADD NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2 ,,,,,,,,, 498,2291,3710 AA,AG,GG 16.6007,42.2535,25.2885 ,,,,,,,,, ,,,,,,,,, 47346145 3287,9711 2201 4298 6499 SO:0001627 intron_variant AB002356 CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1 11p11.2 2012-10-04 ENSG00000110514 ENSG00000110514 8567 DENN/MADD domain containing 6766 protein-coding gene gene with protein product 603584 NA 9115275, 9796103 Standard NM_130476 NA Approved DENN, KIAA0358, RAB3GEP uc001ner.1 Q8WXG6 OTTHUMG00000150350 ENST00000311027.5:c.4722+17G>A chr11.hg19:g.47346145G>A NA hg19 CCDS7930.1 0.02 19.710341 GCAxCAC COVERED 757 0.3466117216117216 197 0.40040650406504064 101 0.27900552486187846 332 0.5804195804195804 127 0.16754617414248021 G 10.79 1.449568 0.26074 0.422535 0.166007 ENSG00000110514 ENST00000405573 T 0.49139 0.79 5.32 -0.135 0.13477 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.46624 -0.9178 6 . . . . 4.2292 0.10596 0.0711:0.2561:0.4086:0.2642 rs2290148;rs58424577;rs2290148 390 F8W8U2 . N 390 ENSP00000384483:S390N . S + 2 0 MADD 47302721 0.576000 0.26700 0.000000 0.03702 0.114000 0.19823 1.210000 0.32370 -0.049000 0.13379 0.555000 0.69702 AGC NOVEL MADD-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317746.1 3 27.324385 KEEP 0 1 32 102 3706 GG 1 1 0 + 14 60 502 0 0 28.773448 519 60 19888 793 ENST00000311027.5 0.026266 1 MADD 8567 __UNKNOWN__ __UNKNOWN__ 11 47350287 47350287 __UNKNOWN__ Intron SNP G G A rs2305280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47350287G>A ENST00000311027.5 + 35 5004 MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Intron NM_003682.3 NP_003673.3 MAP-kinase activating death domain NA NA breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GATGGGCCACGGTGCGCAGGG 0.582 NA A||| 2126 0.424521 0.4939 0.3026 5008 , , NA 20568 0.6657 NA 0.2495 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 A ,,,,,,,,, 1981,2421 614.4+/-392.4 432,1117,652 56 51 53 ,,,,,,,,, -9.6 0 11 dbSNP_100 53 2095,6501 714.9+/-406.0 269,1557,2472 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron MADD NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2 ,,,,,,,,, 701,2674,3124 AA,AG,GG 24.3718,45.0023,31.3587 ,,,,,,,,, ,,,,,,,,, 47350287 4076,8922 2201 4298 6499 SO:0001627 intron_variant AB002356 CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1 11p11.2 2012-10-04 ENSG00000110514 ENSG00000110514 8567 DENN/MADD domain containing 6766 protein-coding gene gene with protein product 603584 NA 9115275, 9796103 Standard NM_130476 NA Approved DENN, KIAA0358, RAB3GEP uc001ner.1 Q8WXG6 OTTHUMG00000150350 ENST00000311027.5:c.4839+32G>A chr11.hg19:g.47350287G>A NA hg19 CCDS7930.1 0.02 15.326021 CACxGTG COVERED NOVEL MADD-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317746.1 5 13.844361 KEEP 0 0 0 46 1596 GG 1 1 0 + 14 60 523 0 0 33.035525 361 60 13079 500 ENST00000311027.5 0.037333 1 MADD 8567 __UNKNOWN__ __UNKNOWN__ 11 47350553 47350553 __UNKNOWN__ Intron SNP G G C rs10838693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47350553G>C ENST00000311027.5 + 36 5004 MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Intron NM_003682.3 NP_003673.3 MAP-kinase activating death domain NA NA breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) TATGGAGATGGAGGAGTCTCA 0.532 NA C||| 2572 0.513578 0.6346 0.3501 5008 , , NA 21640 0.7242 NA 0.3101 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 C ,,,,,,,,, 2577,1825 533.4+/-373.7 732,1113,356 132 103 113 ,,,,,,,,, -9.9 0 11 dbSNP_120 113 2640,5956 686.7+/-404.1 397,1846,2055 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron MADD NM_001135943.1,NM_001135944.1,NM_003682.3,NM_130470.2,NM_130471.2,NM_130472.2,NM_130473.2,NM_130474.2,NM_130475.2,NM_130476.2 ,,,,,,,,, 1129,2959,2411 CC,CG,GG 30.712,41.4584,40.1369 ,,,,,,,,, ,,,,,,,,, 47350553 5217,7781 2201 4298 6499 SO:0001627 intron_variant AB002356 CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1 11p11.2 2012-10-04 ENSG00000110514 ENSG00000110514 8567 DENN/MADD domain containing 6766 protein-coding gene gene with protein product 603584 NA 9115275, 9796103 Standard NM_130476 NA Approved DENN, KIAA0358, RAB3GEP uc001ner.1 Q8WXG6 OTTHUMG00000150350 ENST00000311027.5:c.4840-44G>C chr11.hg19:g.47350553G>C NA hg19 CCDS7930.1 0.02 6.835153 ATGxAGG COVERED NOVEL MADD-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317746.1 0 9.329972 KEEP 0 0 0 31 1078 GG 0.999997 0.999997 0 + 7 60 269 0 0 17.114611 190 60 6984 279 ENST00000311027.5 0.035533 1 MYBPC3 4607 __UNKNOWN__ __UNKNOWN__ 11 47354068 47354068 __UNKNOWN__ Intron SNP G G A rs3729802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47354068G>A ENST00000545968.1 - 32 3682 MYBPC3_ENST00000399249.2_Intron|MYBPC3_ENST00000256993.4_Intron NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac NA NA cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863) ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GTCGGGGCCTGTGAGCCCTGC 0.652 NA A||| 1710 0.341454 0.4153 0.2579 5008 , , NA 16686 0.622 NA 0.162 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 A 1386,2628 242,902,863 26 29 28 -4.9 0 11 dbSNP_107 28 1370,6952 122,1126,2913 no intron MYBPC3 NM_000256.3 364,2028,3776 AA,AG,GG 16.4624,34.5291,22.3411 47354068 2756,9580 2007 4161 6168 SO:0001627 intron_variant X84075 CCDS53621.1 11p11.2 2014-09-17 2001-11-28 ENSG00000134571 4607 Myosin binding proteins, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7551 protein-coding gene gene with protein product 600958 myosin-binding protein C, cardiac CMH4 NA 7744002, 8358441 Standard NM_000256 NA Approved MYBP-C, FHC uc021qis.1 Q14896 ENST00000545968.1:c.3627+48C>T chr11.hg19:g.47354068G>A NA A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53 hg19 CCDS53621.1 0.02 1.646454 CCTxTGA COVERED NOVEL MYBPC3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000392271.3 0 3.143646 KEEP 0 1 33 22 733 GG 0.999892 0.999822 0 - 5 60 182 0 0 12.059054 91 60 3399 143 ENST00000545968.1 0.052083 0.99993 SLC39A13 91252 __UNKNOWN__ __UNKNOWN__ 11 47437783 47437783 __UNKNOWN__ Intron SNP C C T rs375762869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47437783C>T ENST00000533076.1 + 11 1634 SLC39A13_ENST00000354884.4_3'UTR|SLC39A13_ENST00000362021.4_3'UTR|SLC39A13_ENST00000524928.1_3'UTR Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), member 13 NA NA cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577) Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471) protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385) breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) TAGGTGGGGGCGGTGAGGGCT 0.637 NA C||| 9 0.00179712 0.0 0.0 5008 , , NA 16961 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7934.1, CCDS44592.1 11p11.2 2013-05-22 ENSG00000165915 ENSG00000165915 91252 Solute carriers 20859 protein-coding gene gene with protein product 608735 solute carrier family 39 (metal ion transporter), member 13 NA 12659941 Standard NM_152264 NM_001128225 NA Approved FLJ25785 uc009ylq.3 Q96H72 OTTHUMG00000166890 ENST00000533076.1:c.976-93C>T chr11.hg19:g.47437783C>T NA D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10 hg19 0.02 14.90198 GGGxGGT COVERED NOVEL SLC39A13-001 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000391723.2 0 28.220484 KEEP 0 1 26 103 3460 CC 1 1 0 + 13 60 428 0 0 24.763477 354 60 12144 600 ENST00000533076.1 0.035422 1 KBTBD4 55709 __UNKNOWN__ __UNKNOWN__ 11 47600438 47600438 __UNKNOWN__ 5'UTR SNP C C T rs2280231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47600438C>T ENST00000526005.1 - 0 70 KBTBD4_ENST00000430070.2_Intron|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_5'UTR Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 NA NA NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 GGAGCTAGGACCACGCTCACC 0.622 NA C||| 968 0.193291 0.0121 0.1744 5008 , , NA 15780 0.3234 NA 0.2545 False NA ,,, NA NA NA 2504 0.2546 NA NA NA NA 0 C , 83,1301 5,73,614 213 213 213 , 1.2 0 11 dbSNP_100 213 891,2291 119,653,819 no utr-5,intron KBTBD4 NM_016506.5,NM_018095.4 , 124,726,1433 TT,TC,CC 28.0013,5.9971,21.3316 , , 47600438 974,3592 692 1591 2283 SO:0001623 5_prime_UTR_variant AF151086 CCDS7940.1, CCDS44594.1 11p11.2 2013-01-08 2003-12-12 2003-12-17 ENSG00000123444 ENSG00000123444 55709 BTB/POZ domain containing 23761 protein-coding gene gene with protein product BTB and kelch domain containing 4 BKLHD4 NA 11042152 Standard NM_016506 NM_018095 NA Approved FLJ10450, HSPC252 uc001nfz.3 Q9NVX7 OTTHUMG00000166894 ENST00000526005.1:c.-84G>A chr11.hg19:g.47600438C>T NA D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76 hg19 CCDS7940.1 0.02 12.620359 GGAxCAC COVERED NOVEL KBTBD4-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000391763.1 4 64.700431 KEEP 0 0 0 215 7512 CC 1 1 0 - 11 60 393 0 0 23.95418 297 60 10693 683 ENST00000526005.1 0.035714 1 AGBL2 79841 __UNKNOWN__ __UNKNOWN__ 11 47681370 47681370 __UNKNOWN__ 3'UTR SNP T T G rs1056387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47681370T>G ENST00000525123.1 - 0 3349 AGBL2_ENST00000298861.4_3'UTR|AGBL2_ENST00000357610.3_3'UTR NM_024783.3 NP_079059.2 Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 NA NA cytosol (GO:0005829) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 TTAACATAGATTTTGATTTTT 0.343 NA G||| 1815 0.36242 0.1505 0.3213 5008 , , NA 17590 0.4306 NA 0.4374 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS7944.1 11p11.2 2014-06-23 ENSG00000165923 ENSG00000165923 79841 26296 protein-coding gene gene with protein product cytoplasmic carboxypeptidase 2 NA 12738998, 21303978 Standard NM_024783 NM_024783 NA Approved FLJ23598, CCP2 uc001ngg.3 Q5U5Z8 OTTHUMG00000165368 ENST00000525123.1:c.*355A>C chr11.hg19:g.47681370T>G NA A8MPX2|Q53FV5|Q8IV57|Q9H5C0 hg19 CCDS7944.1 0.02 9.361144 AGAxTTT COVERED NOVEL AGBL2-001 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000383726.2 3 8.726459 KEEP 0 0 0 29 923 TT 0.999997 0.999997 0 - 16 60 582 0 0 41.488263 188 60 6694 255 ENST00000525123.1 0.078431 1 AGBL2 79841 __UNKNOWN__ __UNKNOWN__ 11 47689343 47689343 __UNKNOWN__ Intron SNP C C T rs10742817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47689343C>T ENST00000528244.1 - 15 2354 AGBL2_ENST00000525123.1_Intron|AGBL2_ENST00000298861.4_Intron|AGBL2_ENST00000357610.3_Intron Q5U5Z8 CBPC2_HUMAN ATP/GTP binding protein-like 2 NA NA cytosol (GO:0005829) metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1) 34 GACACAAAGGCTAACTCGGTA 0.443 NA C||| 1756 0.350639 0.112 0.3213 5008 , , NA 18995 0.4306 NA 0.4284 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS7944.1 11p11.2 2014-06-23 ENSG00000165923 ENSG00000165923 79841 26296 protein-coding gene gene with protein product cytoplasmic carboxypeptidase 2 NA 12738998, 21303978 Standard NM_024783 NM_024783 NA Approved FLJ23598, CCP2 uc001ngg.3 Q5U5Z8 OTTHUMG00000165368 ENST00000528244.1:c.2101-95G>A chr11.hg19:g.47689343C>T NA A8MPX2|Q53FV5|Q8IV57|Q9H5C0 hg19 0.02 8.545725 AGGxTAA COVERED NOVEL AGBL2-003 NOVEL non_canonical_conserved|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383727.1 1 15.951993 KEEP 0 0 0 53 1911 CC 1 1 0 - 14 60 516 0 0 35.110062 226 60 8680 345 ENST00000528244.1 0.058333 1 FNBP4 23360 __UNKNOWN__ __UNKNOWN__ 11 47776283 47776283 __UNKNOWN__ Intron SNP C C T rs7929014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47776283C>T ENST00000263773.5 - 3 326 FNBP4_ENST00000534003.1_Intron NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 NA NA nucleus (GO:0005634) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GCATCTAAAGCGGAAGTATAA 0.333 NA C||| 1726 0.344649 0.0847 0.317 5008 , , NA 21875 0.4355 NA 0.4304 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037404 CCDS41644.1 11q12.1 2008-02-05 ENSG00000109920 ENSG00000109920 23360 19752 protein-coding gene gene with protein product 615265 NA 10231032 Standard NM_015308 NA Approved KIAA1014 uc009ylv.3 Q8N3X1 OTTHUMG00000166533 ENST00000263773.5:c.314-67G>A chr11.hg19:g.47776283C>T NA Q9H985|Q9NT81|Q9Y2L7 hg19 CCDS41644.1 0.02 2.059665 AAGxGGA COVERED NOVEL FNBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390237.3 0 3.611147 KEEP 0 0 0 12 390 CC 0.993634 0.993124 0 - 5 60 184 0 0 12.583412 78 60 2511 98 ENST00000263773.5 0.060241 0.999487 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47801101 47801101 __UNKNOWN__ Intron SNP A A G rs76035624|rs7114813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47801101A>G ENST00000378460.2 - 36 4268 NUP160_ENST00000530326.1_Intron NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AATATTTTAGATAGGCTCAGG 0.348 NA A||| 1725 0.344449 0.0847 0.317 5008 , , NA 19767 0.4355 NA 0.4304 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 A 277,1471 22,233,619 86 86 86 -2.1 0 11 dbSNP_116 86 1820,2158 429,962,598 no intron NUP160 NM_015231.1 451,1195,1217 GG,GA,AA 45.7516,15.8467,36.6224 47801101 2097,3629 874 1989 2863 SO:0001627 intron_variant D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.4222-355T>C chr11.hg19:g.47801101A>G NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 1.61976 TAGxTAG COVERED NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 1 6.319955 KEEP 0 0 0 21 692 AA 0.999869 0.999825 0 - 4 60 146 0 0 9.235586 95 60 3505 152 ENST00000378460.2 0.040404 0.999956 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47814280 47814280 __UNKNOWN__ Intron SNP A A G rs754434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47814280A>G ENST00000378460.2 - 28 3497 NUP160_ENST00000530326.1_Intron|NUP160_ENST00000528071.1_3'UTR NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GACCAAAACAAGTAGATTTAC 0.353 NA A||| 1730 0.345447 0.084 0.3199 5008 , , NA 18562 0.4355 NA 0.4304 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.3450+57T>C chr11.hg19:g.47814280A>G NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 34.998341 ACAxGTA COVERED NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 5 51.139026 KEEP 0 0 0 170 5514 AA 1 1 0 - 41 60 1591 0 0 110.335964 680 60 25127 1112 ENST00000378460.2 0.056865 1 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47826090 47826090 __UNKNOWN__ Intron SNP A A C rs11039402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47826090A>C ENST00000378460.2 - 21 2723 NUP160_ENST00000530326.1_Intron|NUP160_ENST00000528071.1_Intron NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 GAAATGTTCAAAGGAACTCAC 0.338 NA A||| 1727 0.344848 0.084 0.3213 5008 , , NA 18783 0.4355 NA 0.4304 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 A 689,3713 286.6+/-278.8 49,591,1561 135 123 127 2 0 11 dbSNP_120 127 3916,4680 547.0+/-385.1 895,2126,1277 no intron NUP160 NM_015231.1 944,2717,2838 CC,CA,AA 45.5561,15.652,35.4285 47826090 4605,8393 2201 4298 6499 SO:0001627 intron_variant D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.2676+10T>G chr11.hg19:g.47826090A>C NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 9.810784 TCAxAGG COVERED NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 1 12.338309 KEEP 0 0 0 41 1342 AA 1 1 0 - 9 60 334 0 0 21.3644 212 60 7776 319 ENST00000378460.2 0.040724 1 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47834346 47834346 __UNKNOWN__ Intron SNP G G A rs10838773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47834346G>A ENST00000378460.2 - 15 1999 NUP160_ENST00000530326.1_Intron|NUP160_ENST00000528501.1_Intron|NUP160_ENST00000528071.1_Intron NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TATTCTGTACGCTCTGGAACA 0.333 NA G||| 1728 0.345048 0.087 0.3213 5008 , , NA 19397 0.4365 NA 0.4264 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.1952+87C>T chr11.hg19:g.47834346G>A NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 4.575331 TACxCTC COVERED NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 3 2.707363 KEEP 0 0 0 9 286 GG 0.99254 0.992536 0 - 5 60 191 0 0 12.575771 109 60 3526 131 ENST00000378460.2 0.04386 0.999996 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47837408 47837408 __UNKNOWN__ Intron SNP G G C rs6485786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47837408G>C ENST00000378460.2 - 12 1562 NUP160_ENST00000531016.1_Intron|NUP160_ENST00000530326.1_Intron|NUP160_ENST00000528501.1_Intron|NUP160_ENST00000528071.1_Intron NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ACAAGGTCAAGTGAAGAATTC 0.353 NA G||| 1731 0.345647 0.0847 0.3242 5008 , , NA 19125 0.4365 NA 0.4304 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.1515+89C>G chr11.hg19:g.47837408G>C NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 16.516572 CAAxTGA COVERED NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 0 13.243104 KEEP 0 0 0 44 1586 GG 1 1 0 - 20 60 761 0 0 52.281188 333 60 12667 457 ENST00000378460.2 0.056657 1 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47857253 47857253 __UNKNOWN__ Missense_Mutation SNP T T C rs3816605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47857253T>C ENST00000378460.2 - 7 1097 c.1051A>G c.(1051-1053)Acc>Gcc p.T351A NUP160_ENST00000530326.1_Missense_Mutation_p.T237A|NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.T237A NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 351 NA T -> A (in dbSNP:rs3816605). {ECO:0000269|PubMed:15489334}. carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 AGTCCCATGGTGGGGGAATAA 0.463 NA t||| 1732 0.345847 0.0847 0.3242 5008 , , NA 17736 0.4355 NA 0.4344 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 T ALA/THR 697,3705 290.1+/-280.8 50,597,1554 151 130 137 1051 0.3 1 11 dbSNP_107 137 3945,4651 549.6+/-385.6 912,2121,1265 yes missense NUP160 NM_015231.1 58 962,2718,2819 CC,CT,TT 45.8934,15.8337,35.7132 benign 351/1437 47857253 4642,8356 2201 4298 6499 SO:0001583 missense D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.1051A>G chr11.hg19:g.47857253T>C ENSP00000367721:p.Thr351Ala NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 11.397757 TGGxGGG COVERED 711 0.32554945054945056 57 0.11585365853658537 123 0.3397790055248619 202 0.3531468531468531 329 0.4340369393139842 t 11.67 1.708973 0.30322 0.158337 0.458934 ENSG00000030066 ENST00000378460;ENST00000426372;ENST00000530326;ENST00000528071 T;T;T 0.43688 0.94;0.94;0.94 5.38 0.284 0.15701 . 0.328593 0.32736 N 0.005715 T 0.00012 0.0000 L 0.47716 1.5 0.09310 P 0.9999999999998177 B 0.02656 0.0 B 0.09377 0.004 T 0.47749 -0.9093 9 0.09084 T 0.74 . 6.9307 0.24439 0.3199:0.2414:0.0:0.4387 rs3816605;rs17599235;rs52811290;rs60158866;rs3816605 351 Q12769 NU160_HUMAN A 351;101;237;237 ENSP00000367721:T351A;ENSP00000433590:T237A;ENSP00000432367:T237A ENSP00000367721:T351A T - 1 0 NUP160 47813829 0.997000 0.39634 0.996000 0.52242 0.702000 0.40608 0.663000 0.25053 -0.207000 0.10187 -1.705000 0.00719 ACC NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 2 9.597935 KEEP 0 1 8 35 976 GT 1 1 0 - 16 60 537 1 0 35.125055 263 60 8253 412 ENST00000378460.2 0.057348 1 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47860954 47860954 __UNKNOWN__ Intron SNP A A C rs10838777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47860954A>C ENST00000378460.2 - 4 795 NUP160_ENST00000530326.1_Intron|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Intron NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 ttgggttttaaatatatcagt 0.493 NA A||| 1729 0.345248 0.084 0.3242 5008 , , NA 17154 0.4355 NA 0.4304 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.748+440T>G chr11.hg19:g.47860954A>C NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 -0.350917 TTAxATA COVERED NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 4 2.407372 KEEP 0 0 0 8 253 AA 0.99257 0.871187 0 - 3 60 109 0 0 7.705091 37 60 1298 49 ENST00000378460.2 0.075 0.877708 NUP160 23279 __UNKNOWN__ __UNKNOWN__ 11 47869855 47869855 __UNKNOWN__ Missense_Mutation SNP C C T rs2305984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:47869855C>T ENST00000378460.2 - 1 164 c.118G>A c.(118-120)Gcc>Acc p.A40T NUP160_ENST00000526870.1_Missense_Mutation_p.A40T|NUP160_ENST00000530326.1_5'UTR|NUP160_ENST00000532747.1_Missense_Mutation_p.A6T NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 40 NA A -> T (in dbSNP:rs2305984). {ECO:0000269|PubMed:14702039}. carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080) nucleocytoplasmic transporter activity (GO:0005487) NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 CGTTCCAGGGCTCCCGCCGCC 0.682 NA c||| 245 0.0489217 0.0 0.0 5008 , , NA 13405 0.2341 NA 0.0 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 31 37 35 NA NA 11 NA 47869855 2201 4298 6499 SO:0001583 missense D83781 CCDS31484.1 11p11.12 2008-07-21 2002-08-29 ENSG00000030066 ENSG00000030066 23279 18017 protein-coding gene gene with protein product 607614 nucleoporin 160kD NA 11684705 Standard NM_015231 NM_015231 NA Approved KIAA0197, FLJ22583 uc001ngm.3 Q12769 OTTHUMG00000166534 ENST00000378460.2:c.118G>A chr11.hg19:g.47869855C>T ENSP00000367721:p.Ala40Thr NA B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660 hg19 CCDS31484.1 0.02 9.40149 GGGxTCC COVERED 87 0.03983516483516483 0 0.0 0 0.0 87 0.1520979020979021 0 0.0 C 8.858 0.946302 0.18356 . . ENSG00000030066 ENST00000378460;ENST00000532747;ENST00000526870 T;T;T 0.49720 1.46;0.82;0.77 4.85 -2.6 0.06190 . 0.572712 0.16480 N 0.212600 T 0.00144 0.0004 N 0.19112 0.55 0.80722 P 0.0 P;B 0.39404 0.672;0.1 B;B 0.35039 0.194;0.014 T 0.13980 -1.0489 9 0.25106 T 0.35 . 10.3032 0.43665 0.4641:0.4659:0.0:0.07 rs2305984;rs17791141;rs2305984 40;40 Q12769-2;Q12769 .;NU160_HUMAN T 40;6;40 ENSP00000367721:A40T;ENSP00000432437:A6T;ENSP00000431495:A40T ENSP00000367721:A40T A - 1 0 NUP160 47826431 0.913000 0.31002 0.297000 0.24988 0.065000 0.16274 -0.032000 0.12266 -0.688000 0.05155 -0.494000 0.04653 GCC NOVEL NUP160-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390239.2 2 47.548446 KEEP 0 0 0 158 5432 CC 1 1 0 - 12 60 401 0 0 24.17055 277 60 9487 567 ENST00000378460.2 0.041522 1 PTPRJ 5795 __UNKNOWN__ __UNKNOWN__ 11 48145375 48145375 __UNKNOWN__ Missense_Mutation SNP A A C rs1566734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:48145375A>C ENST00000418331.2 + 5 1179 c.827A>C c.(826-828)cAa>cCa p.Q276P PTPRJ_ENST00000440289.2_Missense_Mutation_p.Q276P NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 276 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA Q -> P (in a colon cancer sample; somatic mutation; dbSNP:rs1566734). {ECO:0000269|PubMed:12089527, ECO:0000269|PubMed:15378013}. contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570) cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725) p.Q276P(3) breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TATCTTCTACAATCAAATAAG 0.468 NA A||| 951 0.189896 0.1051 0.1239 5008 , , NA 17537 0.3185 NA 0.161 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 3 Substitution - Missense(3) prostate(3) GRCh37 CM043071 PTPRJ M rs1566734 A PRO/GLN,PRO/GLN 528,3874 240.9+/-251.5 33,462,1706 71 68 69 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 827,827 1.5 0 11 dbSNP_88 69 1389,7207 267.8+/-287.5 107,1175,3016 yes missense,missense PTPRJ NM_001098503.1,NM_002843.3 76,76 140,1637,4722 CC,CA,AA 16.1587,11.9945,14.7484 benign,benign 276/540,276/1338 48145375 1917,11081 2201 4298 6499 SO:0001583 missense U10886 CCDS7945.1, CCDS44596.1 11p11.2 2013-02-11 ENSG00000149177 ENSG00000149177 5795 CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9673 protein-coding gene gene with protein product 600925 NA 7937872, 7994032 Standard NM_001098503 NA Approved DEP1, HPTPeta, CD148 uc001ngp.4 Q12913 OTTHUMG00000166573 ENST00000418331.2:c.827A>C chr11.hg19:g.48145375A>C ENSP00000400010:p.Gln276Pro NA Q15255|Q6P4H4|Q8NHM2|Q9UDA9 hg19 CCDS7945.1 0.02 2.018953 TACxATC COVERED 364 0.16666666666666666 46 0.09349593495934959 46 0.1270718232044199 150 0.26223776223776224 122 0.16094986807387862 A 10.21 1.286333 0.23478 0.119945 0.161587 ENSG00000149177 ENST00000278456;ENST00000418331;ENST00000440289 T;T 0.35973 2.56;1.28 5.31 1.54 0.23209 Fibronectin, type III (2); . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;P 0.37500 0.001;0.597 B;B 0.32624 0.002;0.149 T 0.34453 -0.9828 8 0.45353 T 0.12 . 3.8559 0.08974 0.6593:0.0:0.1756:0.1651 rs1566734;rs17791465;rs61316421;rs1566734 276;276 Q12913;Q6P4H4 PTPRJ_HUMAN;. P 276 ENSP00000400010:Q276P;ENSP00000409733:Q276P ENSP00000278456:Q276P Q + 2 0 PTPRJ 48101951 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 0.077000 0.14738 0.062000 0.16340 0.528000 0.53228 CAA NOVEL PTPRJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390525.1 0 7.51006 KEEP 0 0 0 25 725 AA 0.999931 0.999887 0 + 6 60 233 0 0 16.361898 92 60 3296 143 ENST00000418331.2 0.061224 0.999956 PTPRJ 5795 __UNKNOWN__ __UNKNOWN__ 11 48146622 48146622 __UNKNOWN__ Missense_Mutation SNP G G A rs1503185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:48146622G>A ENST00000418331.2 + 6 1329 c.977G>A c.(976-978)cGa>cAa p.R326Q PTPRJ_ENST00000440289.2_Missense_Mutation_p.R326Q NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 326 Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA R -> Q (in dbSNP:rs1503185). {ECO:0000269|PubMed:15378013}. contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570) cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725) breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CAGCAGTCCCGAGACACGGAA 0.627 NA A||| 1216 0.242812 0.3056 0.1297 5008 , , NA 17902 0.3165 NA 0.162 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 GRCh37 CM043072 PTPRJ M rs1503185 A GLN/ARG,GLN/ARG 1111,3291 717.6+/-408.7 153,805,1243 93 101 98 977,977 -10.3 0 11 dbSNP_88 98 1387,7209 754.2+/-407.5 106,1175,3017 yes missense,missense PTPRJ NM_001098503.1,NM_002843.3 43,43 259,1980,4260 AA,AG,GG 16.1354,25.2385,19.2183 benign,benign 326/540,326/1338 48146622 2498,10500 2201 4298 6499 SO:0001583 missense U10886 CCDS7945.1, CCDS44596.1 11p11.2 2013-02-11 ENSG00000149177 ENSG00000149177 5795 CD molecules, Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9673 protein-coding gene gene with protein product 600925 NA 7937872, 7994032 Standard NM_001098503 NA Approved DEP1, HPTPeta, CD148 uc001ngp.4 Q12913 OTTHUMG00000166573 ENST00000418331.2:c.977G>A chr11.hg19:g.48146622G>A ENSP00000400010:p.Arg326Gln NA Q15255|Q6P4H4|Q8NHM2|Q9UDA9 hg19 CCDS7945.1 0.02 10.5774 CCCxAGA COVERED 474 0.21703296703296704 153 0.31097560975609756 49 0.13535911602209943 150 0.26223776223776224 122 0.16094986807387862 A 3.170 -0.170315 0.06461 0.252385 0.161354 ENSG00000149177 ENST00000278456;ENST00000418331;ENST00000440289 T;T 0.04360 3.64;3.64 5.14 -10.3 0.00346 Fibronectin, type III (2);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 B;B 0.13594 0.0;0.008 B;B 0.04013 0.001;0.001 T 0.33369 -0.9871 8 0.10902 T 0.67 . 5.7499 0.18140 0.5284:0.2226:0.1767:0.0724 rs1503185;rs2229702;rs52803146;rs60637567;rs1503185 326;326 Q12913;Q6P4H4 PTPRJ_HUMAN;. Q 326 ENSP00000400010:R326Q;ENSP00000409733:R326Q ENSP00000278456:R326Q R + 2 0 PTPRJ 48103198 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.801000 0.00184 -5.127000 0.00021 -3.509000 0.00033 CGA NOVEL PTPRJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390525.1 1 12.940184 KEEP 0 0 0 43 1446 GG 1 1 0 + 9 60 331 0 0 20.446692 249 60 8611 375 ENST00000418331.2 0.034884 1 OR4S1 256148 __UNKNOWN__ __UNKNOWN__ 11 48328644 48328644 __UNKNOWN__ Silent SNP C C T rs753095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:48328644C>T ENST00000319988.1 + 1 870 c.870C>T c.(868-870)aaC>aaT p.N290N NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 290 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TAAGGAACAACGATGTGAAAA 0.458 NA T||| 2160 0.43131 0.5113 0.2911 5008 , , NA 20978 0.4544 NA 0.3042 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 T 2148,2254 594.7+/-388.3 516,1116,569 91 83 86 870 -3.7 0 11 dbSNP_86 86 2567,6029 691.3+/-404.5 373,1821,2104 no coding-synonymous OR4S1 NM_001004725.1 889,2937,2673 TT,TC,CC 29.8627,48.796,36.2748 290/310 48328644 4715,8283 2201 4298 6499 SO:0001819 synonymous_variant AB065908 CCDS31488.1 11p11.2 2012-08-09 ENSG00000176555 ENSG00000176555 256148 GPCR / Class A : Olfactory receptors 14705 protein-coding gene gene with protein product NA Standard NM_001004725 NM_001004725 NA Approved uc010rhu.2 Q8NGB4 OTTHUMG00000166578 ENST00000319988.1:c.870C>T chr11.hg19:g.48328644C>T NA Q6IFB4 hg19 CCDS31488.1 0.02 19.065173 CAAxGAT COVERED NOVEL OR4S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390556.1 1 12.638904 KEEP 0 0 0 42 1395 CC 1 1 0 + 16 60 594 0 0 36.554946 466 60 16540 624 ENST00000319988.1 0.033195 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 48373946 48373946 __UNKNOWN__ IGR SNP C C A rs12797020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:48373946C>A NA NA OR4C3 (26439 upstream) : OR4C5 (13090 downstream) NA NA NA AGAATTTCTGCAGTTCTGGAT 0.408 NA c||| 1352 0.269968 0.1256 0.2378 5008 , , NA 15080 0.3978 NA 0.174 False NA ,,, NA NA NA 2504 0.455 NA NA NA NA 0 310 248 267 NA NA 11 NA 48373946 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.48373946C>A NA hg19 0.02 7.776627 CTGxAGT COVERED NOVEL 0 1 6.32085 KEEP 0 0 0 21 767 CC 0.999869 0.999869 0 7 60 247 0 0 16.020049 131 60 4995 277 0.050725 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 48453678 48453678 __UNKNOWN__ IGR SNP G G A rs600750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:48453678G>A NA NA OR4C5 (65661 upstream) : OR4A47 (56590 downstream) NA NA NA ttgttcttgcgatagtttgct 0.423 NA .||| 1362 0.271965 0.1278 0.2464 5008 , , NA 16442 0.3968 NA 0.1839 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.48453678G>A NA hg19 0.02 6.245285 TGCxATA COVERED NOVEL 0 0 5.71795 KEEP 0 0 0 19 621 GG 0.99986 0.99986 0 8 60 295 0 0 18.809327 188 60 6092 216 0.040816 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 48997107 48997107 __UNKNOWN__ IGR SNP G G A rs2047941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:48997107G>A NA NA OR4A47 (485775 upstream) : TRIM49B (53396 downstream) NA NA NA AGCAATTAGGGATGGTGTATA 0.443 NA .||| 1365 0.272564 0.1188 0.2363 5008 , , NA 18030 0.4028 NA 0.1799 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.48997107G>A NA hg19 0.02 10.338356 AGGxATG COVERED NOVEL 0 1 7.779228 KEEP 0 0 0 26 896 GG 0.999957 0.999957 0 10 60 333 0 0 19.512917 263 60 9686 365 0.03663 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 49000558 49000558 __UNKNOWN__ IGR SNP G G A rs11040198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:49000558G>A NA NA OR4A47 (489226 upstream) : TRIM49B (49945 downstream) NA NA NA CCCTCCTTTTGCAGCCTCTCC 0.428 NA .||| 1365 0.272564 0.1188 0.2363 5008 , , NA 19222 0.4028 NA 0.1799 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.49000558G>A NA hg19 0.02 7.789345 TTTxCAG COVERED NOVEL 0 2 8.12183 KEEP 0 0 0 27 958 GG 0.999988 0.999988 0 7 60 253 0 0 15.120298 217 60 8267 312 0.03125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 49142102 49142102 __UNKNOWN__ IGR SNP T T A rs7932465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:49142102T>A NA NA TRIM64C (61438 upstream) : FOLH1 (26084 downstream) NA NA NA CACCCATCTTTGCCATTTTAG 0.428 NA A||| 2859 0.570887 0.7897 0.4265 5008 , , NA 17985 0.5367 NA 0.3618 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.49142102T>A NA hg19 0.02 8.87049 CTTxGCC COVERED NOVEL 0 0 5.414513 KEEP 0 0 0 18 540 TT 0.999859 0.999859 0 10 60 370 0 0 24.467671 193 60 7124 276 0.049261 1 OR4C13 283092 __UNKNOWN__ __UNKNOWN__ 11 49973979 49973979 __UNKNOWN__ Missense_Mutation SNP C C T rs28378220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:49973979C>T ENST00000555099.1 + 1 37 c.5C>T c.(4-6)gCg>gTg p.A2V NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 2 NA A -> V (in dbSNP:rs28378220). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 AAATACATGGCGAATAGAAAC 0.284 NA C||| 411 0.0820687 0.0023 0.0504 5008 , , NA 19038 0.2421 NA 0.0646 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 T VAL/ALA 50,4352 0,50,2151 74 74 74 5 -1 0 11 dbSNP_125 74 430,8162 9,412,3875 no missense OR4C13 NM_001001955.2 64 9,462,6026 TT,TC,CC 5.0047,1.1358,3.694 benign 2/310 49973979 480,12514 2201 4296 6497 SO:0001583 missense AB065750 CCDS31495.1 11p11.12 2012-10-03 ENSG00000258817 ENSG00000258817 283092 GPCR / Class A : Olfactory receptors 15169 protein-coding gene gene with protein product NA Standard NM_001001955 NM_001001955 NA Approved uc010rhz.2 Q8NGP0 OTTHUMG00000166686 ENST00000555099.1:c.5C>T chr11.hg19:g.49973979C>T ENSP00000452277:p.Ala2Val NA A6NJJ3|B9EH30|Q6IF48|Q96R68 hg19 CCDS31495.1 0.02 12.100031 TGGxGAA COVERED 183 0.08379120879120878 2 0.0040650406504065045 18 0.049723756906077346 108 0.1888111888111888 55 0.07255936675461741 . 2.631 -0.286302 0.05605 0.011358 0.050047 ENSG00000258817 ENST00000555099 T 0.02395 4.31 2.76 -1.01 0.10169 . 0.445756 0.16321 N 0.219575 T 0.00012 0.0000 N 0.12527 0.23 0.80722 P 0.0 B 0.20887 0.049 B 0.20577 0.03 T 0.47674 -0.9099 8 . . . . 5.027 0.14391 0.3862:0.4255:0.0:0.1883 rs28378220 2 Q8NGP0 OR4CD_HUMAN V 2 ENSP00000452277:A2V . A + 2 0 OR4C13 49930555 0.210000 0.23517 0.024000 0.17045 0.092000 0.18411 0.641000 0.24720 -0.758000 0.04690 -2.597000 0.00163 GCG NOVEL OR4C13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391103.1 2 9.631293 KEEP 0 0 0 32 1131 CC 0.999997 0.999997 0 + 13 60 463 0 0 28.655671 321 60 11521 440 ENST00000555099.1 0.038922 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 50228358 50228358 __UNKNOWN__ IGR SNP C C A rs12224066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:50228358C>A NA NA OR4C12 (224287 upstream) : RP11-347H15.4 (29391 downstream) NA NA NA GATCTTTCGTCAAAAGGTCAA 0.403 NA c||| 649 0.129593 0.0189 0.1398 5008 , , NA 19817 0.1647 NA 0.0845 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.50228358C>A NA hg19 0.02 6.440518 CGTxAAA COVERED NOVEL 0 1 6.620897 KEEP 0 0 0 22 754 CC 0.999879 0.999879 0 9 60 322 0 0 20.895049 175 60 6577 227 0.048913 1 OR4A5 81318 __UNKNOWN__ __UNKNOWN__ 11 51411510 51411510 __UNKNOWN__ Missense_Mutation SNP C C T rs74522421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:51411510C>T ENST00000319760.6 - 1 938 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 296 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.E296*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) AAGAGTTTTTCTATAGCATTT 0.358 NA .||| 470 0.0938498 0.0008 0.1124 5008 , , NA 17831 0.1567 NA 0.0099 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 1 Substitution - Nonsense(1) large_intestine(1) C LYS/GLU 13,4377 0,13,2182 25 27 26 886 1.3 0 11 dbSNP_131 26 83,8505 0,83,4211 yes missense OR4A5 NM_001005272.3 56 0,96,6393 TT,TC,CC 0.9665,0.2961,0.7397 benign 296/316 51411510 96,12882 2195 4294 6489 SO:0001583 missense AB065506 CCDS73289.1 11p11.12 2012-08-09 ENSG00000221840 ENSG00000221840 81318 GPCR / Class A : Olfactory receptors 15162 protein-coding gene gene with protein product NA Standard NM_001005272 NM_001005272 NA Approved uc001nhi.2 Q8NH83 OTTHUMG00000166764 ENST00000319760.6:c.886G>A chr11.hg19:g.51411510C>T ENSP00000367664:p.Glu296Lys NA Q6IF84 hg19 CCDS31497.1 0.02 14.070802 TTTxTAT COVERED 138 0.06318681318681318 1 0.0020325203252032522 30 0.08287292817679558 101 0.17657342657342656 6 0.0079155672823219 . 0.003 -2.408697 0.00193 0.002961 0.009665 ENSG00000221840 ENST00000319760 T 0.31247 1.5 2.2 1.26 0.21427 . 1.432180 0.04614 N 0.400850 T 0.00012 0.0000 N 0.01086 -1.025 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.28004 -1.0057 9 0.02654 T 1 . 4.3478 0.11141 0.0:0.6529:0.0:0.3471 . 296 Q8NH83 OR4A5_HUMAN K 296 ENSP00000367664:E296K ENSP00000367664:E296K E - 1 0 OR4A5 51268086 0.000000 0.05858 0.012000 0.15200 0.362000 0.29581 -2.400000 0.01049 0.490000 0.27771 0.162000 0.16502 GAA NOVEL OR4A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391399.1 1 10.527202 KEEP 0 0 0 35 1255 CC 0.999999 0.999999 0 - 12 60 455 0 0 29.109489 302 60 11416 405 ENST00000319760.6 0.038217 1 OR4C46 119749 __UNKNOWN__ __UNKNOWN__ 11 51515460 51515460 __UNKNOWN__ Missense_Mutation SNP C C T rs11246606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:51515460C>T ENST00000328188.1 + 1 179 c.179C>T c.(178-180)tCc>tTc p.S60F NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 60 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ATGTACCTTTCCCTGGCCTAT 0.463 NA .||| 1194 0.238419 0.2375 0.2003 5008 , , NA 17485 0.2272 NA 0.1561 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 T PHE/SER 943,3459 101,741,1359 236 227 230 179 2.6 0.9 11 dbSNP_120 230 1421,7171 124,1173,2999 no missense OR4C46 NM_001004703.1 155 225,1914,4358 TT,TC,CC 16.5386,21.4221,18.193 benign 60/310 51515460 2364,10630 2201 4296 6497 SO:0001583 missense CCDS73288.1 11p11.12 2012-08-09 ENSG00000185926 ENSG00000185926 119749 GPCR / Class A : Olfactory receptors 31271 protein-coding gene gene with protein product 614273 NA Standard NM_001004703 NM_001004703 NA Approved uc010ric.2 A6NHA9 OTTHUMG00000166705 ENST00000328188.1:c.179C>T chr11.hg19:g.51515460C>T ENSP00000329056:p.Ser60Phe NA hg19 CCDS31498.1 0.02 20.416341 TTTxCCT COVERED 354 0.1620879120879121 78 0.15853658536585366 53 0.1464088397790055 124 0.21678321678321677 99 0.13060686015831136 . 0.007 -1.951416 0.00470 0.214221 0.165386 ENSG00000185926 ENST00000328188 T 0.00792 5.69 2.63 2.63 0.31362 GPCR, rhodopsin-like superfamily (1); 0.000000 0.44902 N 0.000419 T 0.00012 0.0000 N 0.00000 -4.73 0.40897 P 0.01587700000000003 B 0.02656 0.0 B 0.01281 0.0 T 0.40905 -0.9538 9 0.02654 T 1 . 6.1158 0.20126 0.0:0.1373:0.0:0.8627 rs11246606 60 A6NHA9 O4C46_HUMAN F 60 ENSP00000329056:S60F ENSP00000329056:S60F S + 2 0 OR4C46 51372036 0.935000 0.31712 0.862000 0.33874 0.014000 0.08584 4.214000 0.58527 0.272000 0.22027 -1.611000 0.00801 TCC NOVEL OR4C46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391155.1 3 12.941971 KEEP 0 0 0 43 1511 CC 1 1 0 + 14 60 497 0 0 28.300447 518 60 19435 685 ENST00000328188.1 0.026316 1 OR4C46 119749 __UNKNOWN__ __UNKNOWN__ 11 51515640 51515640 __UNKNOWN__ Missense_Mutation SNP A A G rs74396937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:51515640A>G ENST00000328188.1 + 1 359 c.359A>G c.(358-360)cAc>cGc p.H120R NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 120 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GCCTATGACCACTATGTGGCC 0.483 NA .||| 979 0.195487 0.1634 0.1671 5008 , , NA 21138 0.2262 NA 0.0954 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 A ARG/HIS 653,3749 58,537,1606 158 155 156 359 1.7 1 11 dbSNP_131 156 860,7732 54,752,3490 no missense OR4C46 NM_001004703.1 29 112,1289,5096 GG,GA,AA 10.0093,14.8342,11.6438 benign 120/310 51515640 1513,11481 2201 4296 6497 SO:0001583 missense CCDS73288.1 11p11.12 2012-08-09 ENSG00000185926 ENSG00000185926 119749 GPCR / Class A : Olfactory receptors 31271 protein-coding gene gene with protein product 614273 NA Standard NM_001004703 NM_001004703 NA Approved uc010ric.2 A6NHA9 OTTHUMG00000166705 ENST00000328188.1:c.359A>G chr11.hg19:g.51515640A>G ENSP00000329056:p.His120Arg NA hg19 CCDS31498.1 0.02 16.064832 ACCxCTA COVERED 318 0.14560439560439561 74 0.15040650406504066 46 0.1270718232044199 129 0.22552447552447552 69 0.09102902374670185 . 0.003 -2.421888 0.00186 0.148342 0.100093 ENSG00000185926 ENST00000328188 T 0.04809 3.55 2.63 1.7 0.24286 GPCR, rhodopsin-like superfamily (1); 0.000000 0.46442 N 0.000281 T 0.00012 0.0000 N 0.00003 -3.45 0.44736 P 0.0022619999999999862 B 0.02656 0.0 B 0.01281 0.0 T 0.40270 -0.9572 9 0.02654 T 1 . 7.7691 0.28997 0.1368:0.0:0.8632:0.0 . 120 A6NHA9 O4C46_HUMAN R 120 ENSP00000329056:H120R ENSP00000329056:H120R H + 2 0 OR4C46 51372216 0.979000 0.34478 0.974000 0.42286 0.006000 0.05464 5.965000 0.70387 0.462000 0.27095 -1.981000 0.00455 CAC NOVEL OR4C46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391155.1 1 8.110739 KEEP 0 0 0 27 796 AA 0.999988 0.999988 0 + 12 54 441 0 0 27.005831 347 60 12284 425 ENST00000328188.1 0.033426 1 OR4C46 119749 __UNKNOWN__ __UNKNOWN__ 11 51515912 51515912 __UNKNOWN__ Missense_Mutation SNP C C T rs77689730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:51515912C>T ENST00000328188.1 + 1 631 c.631C>T c.(631-633)Ctc>Ttc p.L211F NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 211 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 AAACTTTGCCCTCCTGCTGGT 0.517 NA .||| 978 0.195288 0.1626 0.1671 5008 , , NA 20373 0.2262 NA 0.0954 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 C PHE/LEU 708,3694 58,592,1551 123 106 111 631 0.3 0 11 dbSNP_131 111 902,7690 54,794,3448 yes missense OR4C46 NM_001004703.1 22 112,1386,4999 TT,TC,CC 10.4981,16.0836,12.3903 benign 211/310 51515912 1610,11384 2201 4296 6497 SO:0001583 missense CCDS73288.1 11p11.12 2012-08-09 ENSG00000185926 ENSG00000185926 119749 GPCR / Class A : Olfactory receptors 31271 protein-coding gene gene with protein product 614273 NA Standard NM_001004703 NM_001004703 NA Approved uc010ric.2 A6NHA9 OTTHUMG00000166705 ENST00000328188.1:c.631C>T chr11.hg19:g.51515912C>T ENSP00000329056:p.Leu211Phe NA hg19 CCDS31498.1 0.02 16.478221 GCCxTCC COVERED 354 0.1620879120879121 89 0.18089430894308944 53 0.1464088397790055 145 0.2534965034965035 67 0.08839050131926121 . 0.623 -0.820491 0.02755 0.160836 0.104981 ENSG00000185926 ENST00000328188 T 0.42131 0.98 2.47 0.291 0.15732 GPCR, rhodopsin-like superfamily (1); 0.425624 0.17845 N 0.160070 T 0.00012 0.0000 N 0.11560 0.145 0.80722 P 0.0 B 0.20988 0.05 B 0.29077 0.098 T 0.28618 -1.0038 9 0.51188 T 0.08 . 4.736 0.12988 0.2095:0.6582:0.0:0.1323 . 211 A6NHA9 O4C46_HUMAN F 211 ENSP00000329056:L211F ENSP00000329056:L211F L + 1 0 OR4C46 51372488 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -2.168000 0.01270 -0.027000 0.13873 -1.492000 0.00969 CTC NOVEL OR4C46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391155.1 3 12.941991 KEEP 0 0 0 43 1520 CC 1 1 0 + 12 60 435 0 0 25.5152 413 60 15380 558 ENST00000328188.1 0.028235 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 51516257 51516257 __UNKNOWN__ IGR SNP A A T rs59407432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:51516257A>T NA NA OR4C46 (46 upstream) : None (None downstream) NA NA NA atgtccttttagggacatgga 0.358 NA .||| 978 0.195288 0.1626 0.1671 5008 , , NA 17392 0.2262 NA 0.0954 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 A 650,3710 52,546,1582 21 20 21 NA 0 11 dbSNP_129 21 852,7630 55,742,3444 no near-gene-3 107,1288,5026 TT,TA,AA 10.0448,14.9083,11.696 51516257 1502,11340 2180 4241 6421 SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.51516257A>T NA hg19 0.02 15.251655 TTTxGGG COVERED NOVEL 0 0 8.424785 KEEP 0 0 0 28 876 AA 0.999997 0.999997 0 17 60 623 0 0 40.43922 355 60 13319 463 0.045699 1 TRIM51HP 440041 __UNKNOWN__ __UNKNOWN__ 11 55064927 55064927 __UNKNOWN__ RNA SNP G G A rs75418531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55064927G>A ENST00000526016.1 - 0 471 NR_038174.2 tripartite motif-containing 51H, pseudogene NA NA NA ATAAGTTCCCGGAGAAGGTAG 0.398 NA g||| 785 0.156749 0.0227 0.1628 5008 , , NA 17969 0.2321 NA 0.0964 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 11q11 2012-11-02 ENSG00000166007 ENSG00000166007 440041 Triparite motif-containing / Pseudogenes 43977 pseudogene pseudogene NA Standard NR_038174 NA Approved uc021qjb.1 OTTHUMG00000166775 ENST00000526016.1: chr11.hg19:g.55064927G>A NA hg19 0.02 2.241993 CCCxGAG COVERED NOVEL TRIM51HP-002 PUTATIVE basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000391438.1 0 3.610325 KEEP 0 0 0 12 392 GG 0.993634 0.991846 0 - 5 60 185 0 0 12.953342 69 60 2324 99 ENST00000526016.1 0.067568 0.9982 OR4C15 81309 __UNKNOWN__ __UNKNOWN__ 11 55322211 55322211 __UNKNOWN__ Silent SNP A A G rs9804659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55322211A>G ENST00000314644.2 + 1 429 c.429A>G c.(427-429)aaA>aaG p.K143K NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 89 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ATGTGACAAAAACCATCTCTT 0.478 NA HNSCC(20;0.049) a||| 1265 0.252596 0.1014 0.3242 5008 , , NA 19759 0.3919 NA 0.2833 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 A 561,3841 252.1+/-258.6 27,507,1667 159 140 146 429 2.8 1 11 dbSNP_119 146 2288,6304 385.5+/-341.5 329,1630,2337 no coding-synonymous OR4C15 NM_001001920.1 356,2137,4004 GG,GA,AA 26.6294,12.7442,21.9255 143/371 55322211 2849,10145 2201 4296 6497 SO:0001819 synonymous_variant BK004319 CCDS31501.1 11q11 2012-08-09 ENSG00000181939 ENSG00000181939 81309 GPCR / Class A : Olfactory receptors 15171 protein-coding gene gene with protein product NA Standard NM_001001920 NM_001001920 NA Approved uc010rig.2 Q8NGM1 OTTHUMG00000166714 ENST00000314644.2:c.429A>G chr11.hg19:g.55322211A>G NA Q6IFE2 hg19 CCDS31501.1 0.02 12.700257 AAAxACC COVERED NOVEL OR4C15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391164.1 2 10.228951 KEEP 0 0 0 34 1042 AA 0.999998 0.999998 0 + 9 60 332 0 0 19.805823 302 60 10711 391 ENST00000314644.2 0.028939 1 OR4C15 81309 __UNKNOWN__ __UNKNOWN__ 11 55322753 55322753 __UNKNOWN__ Missense_Mutation SNP C C T rs372897529 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55322753C>T ENST00000314644.2 + 1 971 c.971C>T c.(970-972)gCg>gTg p.A324V NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 270 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.A324V(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 GACAAAATGGCGGCAATATTT 0.383 NA HNSCC(20;0.049) c||| 1 0.000199681 0.0 0.0 5008 , , NA 17346 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 1 Substitution - Missense(1) upper_aerodigestive_tract(1) C VAL/ALA 1,4401 2.1+/-5.4 0,1,2200 194 192 193 971 3.9 0.1 11 193 1,8591 1.2+/-3.3 0,1,4295 no missense OR4C15 NM_001001920.1 64 0,2,6495 TT,TC,CC 0.0116,0.0227,0.0154 benign 324/371 55322753 2,12992 2201 4296 6497 SO:0001583 missense BK004319 CCDS31501.1 11q11 2012-08-09 ENSG00000181939 ENSG00000181939 81309 GPCR / Class A : Olfactory receptors 15171 protein-coding gene gene with protein product NA Standard NM_001001920 NM_001001920 NA Approved uc010rig.2 Q8NGM1 OTTHUMG00000166714 ENST00000314644.2:c.971C>T chr11.hg19:g.55322753C>T ENSP00000324958:p.Ala324Val NA Q6IFE2 hg19 CCDS31501.1 0.02 18.631231 TGGxGGC COVERED . . . . . . . . . . C 0.004 -2.349858 0.00219 2.27E-4 1.16E-4 ENSG00000181939 ENST00000314644 T 0.34275 1.37 5.02 3.88 0.44766 GPCR, rhodopsin-like superfamily (1); . . . . T 0.09069 0.0224 N 0.00395 -1.55 0.09310 N 1 B 0.09022 0.002 B 0.06405 0.002 T 0.27123 -1.0083 9 0.02654 T 1 . 8.9234 0.35625 0.0:0.0888:0.0:0.9112 . 270 Q8NGM1 OR4CF_HUMAN V 324 ENSP00000324958:A324V ENSP00000324958:A324V A + 2 0 OR4C15 55079329 0.000000 0.05858 0.112000 0.21494 0.017000 0.09413 0.454000 0.21827 0.942000 0.37525 -0.729000 0.03580 GCG NOVEL OR4C15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391164.1 2 14.118926 KEEP 0 0 0 47 1616 CC 1 1 0 + 19 60 668 0 0 41.053275 467 60 16327 624 ENST00000314644.2 0.039095 1 OR4C16 219428 __UNKNOWN__ __UNKNOWN__ 11 55339652 55339652 __UNKNOWN__ Nonsense_Mutation SNP C C T rs1459101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55339652C>T ENST00000314634.3 + 1 49 c.49C>T c.(49-51)Cag>Tag p.Q17* NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 17 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TGGATTGACACAGGATCCTTT 0.388 NA c||| 1265 0.252596 0.1014 0.3242 5008 , , NA 18829 0.3909 NA 0.2843 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 C stop/GLN 561,3841 252.1+/-258.6 27,507,1667 132 122 125 49 0.8 0 11 dbSNP_88 125 2290,6302 386.3+/-341.8 329,1632,2335 yes stop-gained OR4C16 NM_001004701.2 356,2139,4002 TT,TC,CC 26.6527,12.7442,21.9409 17/311 55339652 2851,10143 2201 4296 6497 SO:0001587 stop_gained AB065773 CCDS31502.1 11q11 2013-10-10 2013-10-10 ENSG00000181935 ENSG00000181935 219428 GPCR / Class A : Olfactory receptors 15172 protein-coding gene gene with protein product olfactory receptor, family 4, subfamily C, member 16 NA Standard NM_001004701 NM_001004701 NA Approved uc010rih.2 Q8NGL9 OTTHUMG00000165198 ENST00000314634.3:c.49C>T chr11.hg19:g.55339652C>T ENSP00000324913:p.Gln17* NA Q6IEV8 hg19 CCDS31502.1 0.02 20.274896 ACAxAGG COVERED 605 0.27701465201465203 47 0.09552845528455285 126 0.34806629834254144 214 0.3741258741258741 218 0.287598944591029 C 15.62 2.886232 0.51908 0.127442 0.266527 ENSG00000181935 ENST00000314634 . . . 4.98 0.756 0.18421 . 0.325431 0.26677 N 0.023065 . . . . . . 0.09310 P 1.0 . . . . . . . . . . 0.66056 D 0.02 . 5.4911 0.16777 0.0:0.5122:0.3092:0.1786 rs1459101;rs52825307;rs60632881;rs1459101 . . . X 17 . ENSP00000324913:Q17X Q + 1 0 OR4C16 55096228 0.000000 0.05858 0.017000 0.16124 0.810000 0.45777 -1.242000 0.02908 0.253000 0.21552 0.549000 0.68633 CAG NOVEL OR4C16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382627.1 1 12.641056 KEEP 0 0 0 42 1481 CC 1 1 0 + 15 60 530 0 0 30.331156 532 60 20325 682 ENST00000314634.3 0.027422 1 OR4C16 219428 __UNKNOWN__ __UNKNOWN__ 11 55339798 55339798 __UNKNOWN__ Silent SNP C C T rs557667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55339798C>T ENST00000314634.3 + 1 195 c.195C>T c.(193-195)tcC>tcT p.S65S NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 65 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TCTACTTATCCTTATCTGATA 0.413 NA c||| 1288 0.257188 0.1188 0.3242 5008 , , NA 19752 0.3909 NA 0.2843 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 C 621,3781 270.1+/-269.4 36,549,1616 274 249 257 195 0.8 0.3 11 dbSNP_83 257 2289,6303 385.8+/-341.6 329,1631,2336 no coding-synonymous OR4C16 NM_001004701.2 365,2180,3952 TT,TC,CC 26.6411,14.1072,22.395 65/311 55339798 2910,10084 2201 4296 6497 SO:0001819 synonymous_variant AB065773 CCDS31502.1 11q11 2013-10-10 2013-10-10 ENSG00000181935 ENSG00000181935 219428 GPCR / Class A : Olfactory receptors 15172 protein-coding gene gene with protein product olfactory receptor, family 4, subfamily C, member 16 NA Standard NM_001004701 NM_001004701 NA Approved uc010rih.2 Q8NGL9 OTTHUMG00000165198 ENST00000314634.3:c.195C>T chr11.hg19:g.55339798C>T NA Q6IEV8 hg19 CCDS31502.1 0.02 33.193014 ATCxTTA COVERED NOVEL OR4C16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382627.1 4 16.854764 KEEP 0 0 0 56 1977 CC 1 1 0 + 22 60 809 0 0 47.961799 756 60 28337 994 ENST00000314634.3 0.028278 1 OR4P4 81300 __UNKNOWN__ __UNKNOWN__ 11 55406022 55406022 __UNKNOWN__ Nonsense_Mutation SNP C C G rs76160133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55406022C>G ENST00000314612.2 + 1 189 c.189C>G c.(187-189)taC>taG p.Y63* NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 63 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TCCTCAATTACCTCTCACTCT 0.403 NA c||| 1428 0.285144 0.0968 0.2968 5008 , , NA 14249 0.4563 NA 0.165 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 C stop/TYR 475,3887 79,317,1785 176 151 160 189 1.1 0.2 11 dbSNP_131 160 1193,6873 309,575,3149 yes stop-gained OR4P4 NM_001004124.1 388,892,4934 GG,GC,CC 14.7905,10.8895,13.4213 63/313 55406022 1668,10760 2181 4033 6214 SO:0001587 stop_gained AB065775 CCDS31504.1 11q11 2012-08-09 ENSG00000181927 ENSG00000181927 81300 GPCR / Class A : Olfactory receptors 15180 protein-coding gene gene with protein product OR4P3P NA Standard NM_001004124 NM_001004124 NA Approved uc010rij.2 Q8NGL7 OTTHUMG00000165300 ENST00000314612.2:c.189C>G chr11.hg19:g.55406022C>G ENSP00000324831:p.Tyr63* NA hg19 CCDS31504.1 0.02 30.668308 TTAxCTC COVERED 411 0.18818681318681318 36 0.07317073170731707 76 0.20994475138121546 211 0.3688811188811189 88 0.11609498680738786 C 9.130 1.011142 0.19277 0.108895 0.147905 ENSG00000181927 ENST00000314612 . . . 5.18 1.15 0.20763 . 0.212673 0.23912 N 0.043330 . . . . . . 0.09310 P 1.0 . . . . . . . . . . 0.02654 T 1 -10.5722 5.6068 0.17385 0.0:0.5623:0.1312:0.3066 . . . . X 63 . ENSP00000324831:Y63X Y + 3 2 OR4P4 55162598 0.000000 0.05858 0.215000 0.23724 0.045000 0.14185 -1.856000 0.01662 -0.045000 0.13468 -0.170000 0.13304 TAC NOVEL OR4P4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383356.1 4 15.951763 KEEP 0 0 0 53 1893 CC 1 1 0 + 24 60 936 0 0 59.788439 668 60 25031 904 ENST00000314612.2 0.034682 1 OR5D13 390142 __UNKNOWN__ __UNKNOWN__ 11 55541807 55541807 __UNKNOWN__ Silent SNP T T C rs17147848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55541807T>C ENST00000361760.1 + 1 894 c.894T>C c.(892-894)gaT>gaC p.D298D NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 298 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GGAACAAAGATATCAATAACA 0.338 NA T||| 138 0.0275559 0.0 0.0 5008 , , NA 9795 0.1339 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T 7,4393 12.9+/-30.5 0,7,2193 59 56 57 894 -0.9 0.4 11 dbSNP_123 57 0,8592 0,0,4296 no coding-synonymous OR5D13 NM_001001967.1 0,7,6489 CC,CT,TT 0.0,0.1591,0.0539 298/315 55541807 7,12985 2200 4296 6496 SO:0001819 synonymous_variant BK004394 CCDS31507.1 11q11 2012-08-09 ENSG00000198877 ENSG00000198877 390142 GPCR / Class A : Olfactory receptors 15280 protein-coding gene gene with protein product NA Standard NM_001001967 NM_001001967 NA Approved uc010ril.2 Q8NGL4 OTTHUMG00000166807 ENST00000361760.1:c.894T>C chr11.hg19:g.55541807T>C NA Q6IF68|Q6IFC9 hg19 CCDS31507.1 0.02 20.201518 AGAxATC COVERED NOVEL OR5D13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391511.1 2 15.345386 KEEP 0 0 0 51 1598 TT 1 1 0 + 19 60 730 0 0 47.189132 470 60 16962 638 ENST00000361760.1 0.038855 1 OR5L1 219437 __UNKNOWN__ __UNKNOWN__ 11 55579182 55579182 __UNKNOWN__ Silent SNP A A G rs139708815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55579182A>G ENST00000333973.2 + 1 329 c.240A>G c.(238-240)aaA>aaG p.K80K NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 80 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.K80K(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TTGTGCCAAAAATGTTGGCTA 0.458 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) pancreas(1) 234 216 222 NA NA 11 NA 55579182 2200 4296 6496 SO:0001819 synonymous_variant AB065780 CCDS31509.1 11q11 2012-08-09 ENSG00000186117 ENSG00000186117 219437 GPCR / Class A : Olfactory receptors 8350 protein-coding gene gene with protein product NA Standard NM_001004738 NM_001004738 NA Approved OST262 uc001nhw.1 Q8NGL2 OTTHUMG00000166810 ENST00000333973.2:c.240A>G chr11.hg19:g.55579182A>G NA B2RNK6|Q6IFD0 hg19 CCDS31509.1 0.02 26.025648 AAAxATG COVERED NOVEL OR5L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391514.1 4 5.751347 KEEP 0 1 37 32 997 AA 0.999998 0.999998 0 + 40 57 1544 1 0 112.769764 467 60 16650 616 ENST00000333973.2 0.078895 1 OR5D18 219438 __UNKNOWN__ __UNKNOWN__ 11 55587914 55587914 __UNKNOWN__ Missense_Mutation SNP A A G rs55832853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55587914A>G ENST00000333976.4 + 1 829 c.809A>G c.(808-810)cAc>cGc p.H270R NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 270 NA H -> R (in dbSNP:rs55832853). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) AACTCCAGGCACACAGTCAAA 0.498 NA N||| 1167 0.233027 0.0204 0.3228 5008 , , NA 18084 0.3889 NA 0.2903 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 A ARG/HIS 288,4112 11,266,1923 89 86 87 809 2.4 1 11 dbSNP_129 87 2368,6224 350,1668,2278 no missense OR5D18 NM_001001952.1 29 361,1934,4201 GG,GA,AA 27.5605,6.5455,20.4433 benign 270/314 55587914 2656,10336 2200 4296 6496 SO:0001583 missense AB065781 CCDS31510.1 11q11 2012-08-09 ENSG00000186119 ENSG00000186119 219438 GPCR / Class A : Olfactory receptors 15285 protein-coding gene gene with protein product NA Standard NM_001001952 NM_001001952 NA Approved uc010rin.2 Q8NGL1 OTTHUMG00000166811 ENST00000333976.4:c.809A>G chr11.hg19:g.55587914A>G ENSP00000335025:p.His270Arg NA Q6IF67|Q6IFD3|Q96RB3 hg19 CCDS31510.1 0.02 11.450532 GGCxCAC COVERED 576 0.26373626373626374 15 0.03048780487804878 126 0.34806629834254144 212 0.3706293706293706 223 0.2941952506596306 . 0.046 -1.267286 0.01433 0.065455 0.275605 ENSG00000186119 ENST00000333976 T 0.00044 8.83 5.03 2.44 0.29823 GPCR, rhodopsin-like superfamily (1); 0.181667 0.26939 N 0.021727 T 0.00012 0.0000 N 0.13098 0.295 0.80722 P 0.0 B 0.11235 0.004 B 0.18263 0.021 T 0.25676 -1.0125 9 0.62326 D 0.03 -11.8734 5.983 0.19417 0.5245:0.1337:0.0:0.3418 rs55832853;rs61896324 270 Q8NGL1 OR5DI_HUMAN R 270 ENSP00000335025:H270R ENSP00000335025:H270R H + 2 0 OR5D18 55344490 0.000000 0.05858 0.973000 0.42090 0.199000 0.23934 0.454000 0.21827 0.236000 0.21180 -0.508000 0.04489 CAC NOVEL OR5D18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391515.1 3 6.619401 KEEP 0 0 0 22 679 AA 0.999879 0.999879 0 + 11 60 376 0 0 22.288245 295 60 10501 356 ENST00000333976.4 0.035948 1 OR5D16 390144 __UNKNOWN__ __UNKNOWN__ 11 55606818 55606818 __UNKNOWN__ Silent SNP C C T rs11231253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55606818C>T ENST00000378396.1 + 1 591 c.591C>T c.(589-591)agC>agT p.S197S NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 197 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CTTATCTCAGCCAGTTGCTTC 0.383 NA -||| 2269 0.453075 0.2746 0.4957 5008 , , NA 22120 0.626 NA 0.3638 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 0 C 1342,3060 207,928,1066 191 165 174 591 -4.6 0 11 dbSNP_120 174 3174,5418 607,1960,1729 yes coding-synonymous OR5D16 NM_001005496.1 814,2888,2795 TT,TC,CC 36.9413,30.4861,34.7545 197/329 55606818 4516,8478 2201 4296 6497 SO:0001819 synonymous_variant AB065783 CCDS31512.1 11q11 2012-08-09 ENSG00000205029 ENSG00000205029 390144 GPCR / Class A : Olfactory receptors 15283 protein-coding gene gene with protein product NA Standard NM_001005496 NM_001005496 NA Approved uc010rio.2 Q8NGK9 OTTHUMG00000154233 ENST00000378396.1:c.591C>T chr11.hg19:g.55606818C>T NA Q6IF65|Q96RB4 hg19 CCDS31512.1 0.02 29.43372 CAGxCAG COVERED NOVEL OR5D16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334506.1 7 9.364994 KEEP 0 1 28 41 1476 CC 1 1 0 + 39 60 1419 0 0 96.143399 623 60 23086 858 ENST00000378396.1 0.058912 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 55873475 55873475 __UNKNOWN__ IGR SNP C C T rs2170447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55873475C>T NA NA OR8H2 (18 upstream) : OR8H3 (16373 downstream) NA NA NA AGCAGGAATGCTGAACATTTA 0.328 NA c||| 1111 0.221845 0.0265 0.3228 5008 , , NA 16591 0.378 NA 0.2604 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 C 307,4091 8,291,1900 51 56 54 -0.1 0 11 dbSNP_96 54 2204,6380 301,1602,2389 no near-gene-3 309,1893,4289 TT,TC,CC 25.6757,6.9804,19.3422 55873475 2511,10471 2199 4292 6491 SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.55873475C>T NA hg19 0.02 21.227669 ATGxTGA COVERED NOVEL 0 2 14.146197 KEEP 0 0 0 47 1694 CC 1 1 0 14 60 500 0 0 28.224761 550 60 21012 726 0.024823 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 55926840 55926840 __UNKNOWN__ IGR SNP A A T rs79877849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:55926840A>T NA NA OR8J3 (21646 upstream) : OR8K5 (29 downstream) NA NA NA taacaatattacaaattgatt 0.219 NA A||| 920 0.183706 0.028 0.1988 5008 , , NA 12623 0.2401 NA 0.1412 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 A 198,4080 3,192,1944 17 17 17 -5.9 0 11 dbSNP_131 17 1215,7189 87,1041,3074 no near-gene-3 90,1233,5018 TT,TA,AA 14.4574,4.6283,11.1418 55926840 1413,11269 2139 4202 6341 SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.55926840A>T NA hg19 0.02 9.328814 ATTxCAA COVERED NOVEL 0 2 9.027254 KEEP 0 0 0 30 946 AA 0.999997 0.999997 0 9 60 313 0 0 18.559759 255 60 9022 341 0.034091 1 OR5T2 219464 __UNKNOWN__ __UNKNOWN__ 11 56000600 56000600 __UNKNOWN__ Missense_Mutation SNP G G T rs3919907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56000600G>T ENST00000313264.4 - 1 137 c.62C>A c.(61-63)tCt>tAt p.S21Y NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 21 NA S -> Y (in dbSNP:rs3919907). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) ATGACAAAAAGAATGAACAAC 0.333 NA g||| 1050 0.209665 0.0265 0.2954 5008 , , NA 19308 0.378 NA 0.2286 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 G TYR/SER 289,4113 156.6+/-189.7 9,271,1921 113 106 108 62 -0.1 0 11 dbSNP_108 108 1897,6695 332.9+/-320.3 219,1459,2618 yes missense OR5T2 NM_001004746.1 144 228,1730,4539 TT,TG,GG 22.0787,6.5652,16.8231 benign 21/360 56000600 2186,10808 2201 4296 6497 SO:0001583 missense AB065838 CCDS31523.1 11q11 2012-08-09 ENSG00000181718 ENSG00000181718 219464 GPCR / Class A : Olfactory receptors 15296 protein-coding gene gene with protein product NA Standard NM_001004746 NM_001004746 NA Approved uc010rjc.2 Q8NGG2 OTTHUMG00000166851 ENST00000313264.4:c.62C>A chr11.hg19:g.56000600G>T ENSP00000323688:p.Ser21Tyr NA B9EGX5|Q6IFC8 hg19 CCDS31523.1 0.02 23.520435 AAAxAAT COVERED 511 0.23397435897435898 20 0.04065040650406504 119 0.3287292817679558 203 0.3548951048951049 169 0.22295514511873352 G 1.222 -0.626727 0.03610 0.065652 0.220787 ENSG00000181718 ENST00000313264 T 0.00666 5.91 0.848 -0.135 0.13477 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.18863 0.031 B 0.06405 0.002 T 0.39761 -0.9598 8 0.87932 D 0 . 3.2208 0.06715 0.317:0.0:0.683:0.0 rs3919907;rs17705089;rs52830662;rs3919907 21 Q8NGG2 OR5T2_HUMAN Y 21 ENSP00000323688:S21Y ENSP00000323688:S21Y S - 2 0 OR5T2 55757176 0.540000 0.26410 0.001000 0.08648 0.065000 0.16274 -0.009000 0.12765 -0.002000 0.14469 0.271000 0.19318 TCT NOVEL OR5T2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391598.1 4 7.223609 KEEP 0 0 0 24 858 GG 0.999909 0.999909 0 - 20 60 725 0 0 44.533094 544 60 20462 648 ENST00000313264.4 0.035461 1 OR8H1 219469 __UNKNOWN__ __UNKNOWN__ 11 56058197 56058197 __UNKNOWN__ Silent SNP G G A rs1842674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56058197G>A ENST00000313022.2 - 1 369 c.342C>T c.(340-342)ctC>ctT p.L114L NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 114 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) CCATTGATGAGAGAAGAAAAC 0.458 NA g||| 2150 0.429313 0.1861 0.5072 5008 , , NA 21350 0.6151 NA 0.3708 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 G 942,3460 359.4+/-314.8 104,734,1363 162 158 160 342 -2.2 0.2 11 dbSNP_92 160 3194,5398 483.8+/-371.2 611,1972,1713 no coding-synonymous OR8H1 NM_001005199.1 715,2706,3076 AA,AG,GG 37.1741,21.3994,31.8301 114/312 56058197 4136,8858 2201 4296 6497 SO:0001819 synonymous_variant AB065836 CCDS31526.1 11q11 2012-08-09 ENSG00000181693 ENSG00000181693 219469 GPCR / Class A : Olfactory receptors 14824 protein-coding gene gene with protein product NA Standard NM_001005199 NM_001005199 NA Approved uc010rje.2 Q8NGG4 OTTHUMG00000162671 ENST00000313022.2:c.342C>T chr11.hg19:g.56058197G>A NA B2RNI7|Q6IFC5 hg19 CCDS31526.1 0.02 17.040582 TGAxAGA COVERED NOVEL OR8H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370019.1 7 14.146669 KEEP 0 0 0 47 1711 GG 1 1 0 - 25 60 893 0 0 59.846269 404 60 15410 547 ENST00000313022.2 0.058275 1 OR8K1 390157 __UNKNOWN__ __UNKNOWN__ 11 56113575 56113575 __UNKNOWN__ Missense_Mutation SNP A A G rs10896271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56113575A>G ENST00000279783.2 + 1 155 c.61A>G c.(61-63)Atg>Gtg p.M21V NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 21 NA M -> V (in dbSNP:rs10896271). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) ATTTATTCTCATGGGGATTAC 0.413 NA HNSCC(65;0.19) A||| 2308 0.460863 0.2292 0.6052 5008 , , NA 18475 0.6438 NA 0.3708 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 A VAL/MET 1111,3291 400.4+/-331.6 149,813,1239 99 94 95 61 -4.6 0 11 dbSNP_120 95 3193,5399 483.3+/-371.1 616,1961,1719 yes missense OR8K1 NM_001002907.1 21 765,2774,2958 GG,GA,AA 37.1625,25.2385,33.123 benign 21/320 56113575 4304,8690 2201 4296 6497 SO:0001583 missense AB065835 CCDS31528.1 11q11 2012-08-09 ENSG00000150261 ENSG00000150261 390157 GPCR / Class A : Olfactory receptors 14831 protein-coding gene gene with protein product NA Standard NM_001002907 NM_001002907 NA Approved uc010rjg.2 Q8NGG5 OTTHUMG00000166858 ENST00000279783.2:c.61A>G chr11.hg19:g.56113575A>G ENSP00000279783:p.Met21Val NA B9EJB1|Q6IFC3|Q96RC1 hg19 CCDS31528.1 0.02 16.849543 CTCxTGG COVERED 963 0.4409340659340659 108 0.21951219512195122 218 0.6022099447513812 368 0.6433566433566433 269 0.3548812664907652 A 8.032 0.761871 0.15914 0.252385 0.371625 ENSG00000150261 ENST00000279783 T 0.00420 7.47 5.18 -4.56 0.03431 . 0.771273 0.11542 N 0.553627 T 0.00012 0.0000 N 0.13327 0.33 0.80722 P 0.0 B 0.12630 0.006 B 0.11329 0.006 T 0.05582 -1.0876 9 0.11794 T 0.64 -2.9812 7.8372 0.29376 0.2343:0.5844:0.0689:0.1124 rs10896271;rs52795616;rs56517428;rs56995399;rs10896271 21 Q8NGG5 OR8K1_HUMAN V 21 ENSP00000279783:M21V ENSP00000279783:M21V M + 1 0 OR8K1 55870151 0.000000 0.05858 0.020000 0.16555 0.985000 0.73830 -3.088000 0.00610 -0.806000 0.04398 0.448000 0.29417 ATG NOVEL OR8K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391605.1 2 7.956666 KEEP 0 1 30 37 1138 AA 1 1 0 + 16 60 545 0 0 32.584309 409 60 15143 543 ENST00000279783.2 0.037647 1 OR8K1 390157 __UNKNOWN__ __UNKNOWN__ 11 56113593 56113593 __UNKNOWN__ Missense_Mutation SNP C C A rs10896272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56113593C>A ENST00000279783.2 + 1 173 c.79C>A c.(79-81)Cct>Act p.P27T NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 27 NA P -> T (in dbSNP:rs10896272). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TACAGACAACCCTGGGCTGCA 0.453 NA HNSCC(65;0.19) C||| 2282 0.455671 0.2133 0.598 5008 , , NA 17747 0.6438 NA 0.3708 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 C THR/PRO 1092,3310 395.1+/-329.5 141,810,1250 115 106 109 79 4.3 0.1 11 dbSNP_120 109 3194,5398 483.4+/-371.1 616,1962,1718 yes missense OR8K1 NM_001002907.1 38 757,2772,2968 AA,AC,CC 37.1741,24.8069,32.9845 benign 27/320 56113593 4286,8708 2201 4296 6497 SO:0001583 missense AB065835 CCDS31528.1 11q11 2012-08-09 ENSG00000150261 ENSG00000150261 390157 GPCR / Class A : Olfactory receptors 14831 protein-coding gene gene with protein product NA Standard NM_001002907 NM_001002907 NA Approved uc010rjg.2 Q8NGG5 OTTHUMG00000166858 ENST00000279783.2:c.79C>A chr11.hg19:g.56113593C>A ENSP00000279783:p.Pro27Thr NA B9EJB1|Q6IFC3|Q96RC1 hg19 CCDS31528.1 0.02 17.685647 AACxCTG COVERED 946 0.43315018315018317 94 0.1910569105691057 215 0.5939226519337016 368 0.6433566433566433 269 0.3548812664907652 C 16.53 3.150464 0.57151 0.248069 0.371741 ENSG00000150261 ENST00000279783 T 0.00428 7.44 5.18 4.26 0.50523 . 0.135624 0.33834 N 0.004503 T 0.00012 0.0000 M 0.78637 2.42 0.80722 P 0.0 B 0.28820 0.224 B 0.28385 0.089 T 0.04153 -1.0973 9 0.66056 D 0.02 -9.85 8.9442 0.35749 0.1452:0.7789:0.0:0.0759 rs10896272;rs52806840;rs60301163;rs10896272 27 Q8NGG5 OR8K1_HUMAN T 27 ENSP00000279783:P27T ENSP00000279783:P27T P + 1 0 OR8K1 55870169 0.000000 0.05858 0.065000 0.19835 0.756000 0.42949 -0.062000 0.11674 2.387000 0.81309 0.549000 0.68633 CCT NOVEL OR8K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391605.1 1 7.659661 KEEP 0 1 33 37 1275 CC 1 1 0 + 16 60 530 0 0 31.872597 382 60 14002 496 ENST00000279783.2 0.040201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 56128772 56128772 __UNKNOWN__ IGR SNP G G T rs7938038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56128772G>T NA NA OR8J1 (8 upstream) : OR8U1 (14327 downstream) NA NA NA CGAGTTACAGGTTCGTAAGCA 0.313 NA G||| 2240 0.447284 0.1831 0.5937 5008 , , NA 18573 0.6448 NA 0.3708 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.56128772G>T NA hg19 0.02 8.049414 CAGxTTC COVERED NOVEL 0 3 4.815021 KEEP 0 0 0 16 551 GG 0.997832 0.997832 0 10 60 342 0 0 21.379688 207 70 7752 267 0.046083 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 56128775 56128775 __UNKNOWN__ IGR SNP C C G rs7938865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56128775C>G NA NA OR8J1 (11 upstream) : OR8U1 (14324 downstream) NA NA NA GTTACAGGTTCGTAAGCAATC 0.313 NA C||| 2241 0.447484 0.1831 0.5951 5008 , , NA 18479 0.6448 NA 0.3708 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.56128775C>G NA hg19 0.02 8.619763 GTTxGTA COVERED NOVEL 0 3 3.912053 KEEP 0 0 0 13 429 CC 0.994391 0.994391 0 7 60 257 0 0 15.734435 202 60 6781 252 0.033493 1 OR8U1 219417 __UNKNOWN__ __UNKNOWN__ 11 56143592 56143592 __UNKNOWN__ Missense_Mutation SNP C C T rs17150411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56143592C>T ENST00000302270.1 + 1 493 c.493C>T c.(493-495)Cgc>Tgc p.R165C NM_001005204.1 NP_001005204.1 Q8NH10 OR8U1_HUMAN olfactory receptor, family 8, subfamily U, member 1 165 NA R -> C (in dbSNP:rs17150411). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) CCTCACCTTCCGCCTCTCCTA 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 217 209 211 NA NA 11 NA 56143592 2105 4224 6329 SO:0001583 missense AB065603 CCDS41647.1 11q11 2012-08-09 ENSG00000172199 ENSG00000172199 219417 GPCR / Class A : Olfactory receptors 19611 protein-coding gene gene with protein product NA Standard NM_001005204 NM_001005204 NA Approved Q8NH10 OTTHUMG00000166860 ENST00000302270.1:c.493C>T chr11.hg19:g.56143592C>T ENSP00000304188:p.Arg165Cys NA hg19 CCDS41647.1 0.02 36.612204 TTCxGCC COVERED 696 0.31868131868131866 77 0.1565040650406504 152 0.4198895027624309 244 0.42657342657342656 223 0.2941952506596306 C 4.583 0.108223 0.08780 . . ENSG00000172199 ENST00000302270 T 0.00188 8.59 5.78 2.79 0.32731 GPCR, rhodopsin-like superfamily (1); 0.274133 0.26467 N 0.024205 T 0.00012 0.0000 L 0.41492 1.28 0.80722 P 0.0 B 0.18741 0.03 B 0.18561 0.022 T 0.13548 -1.0505 9 0.62326 D 0.03 . 7.7725 0.29017 0.1327:0.7267:0.0:0.1406 rs17150411;rs17150411 165 Q8NH10 OR8U1_HUMAN C 165 ENSP00000304188:R165C ENSP00000304188:R165C R + 1 0 OR8U1 55900168 0.000000 0.05858 0.590000 0.28732 0.002000 0.02628 -2.520000 0.00951 1.472000 0.48140 -0.135000 0.14842 CGC NOVEL OR8U1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391607.1 2 26.620084 KEEP 0 1 33 100 3371 CC 1 1 0 + 38 60 1365 0 0 90.156686 679 60 23281 1144 ENST00000302270.1 0.052999 1 OR5R1 219479 __UNKNOWN__ __UNKNOWN__ 11 56184888 56184888 __UNKNOWN__ Missense_Mutation SNP G G A rs998544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56184888G>A ENST00000312253.1 - 1 820 c.821C>T c.(820-822)gCt>gTt p.A274V NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 274 NA A -> V (in dbSNP:rs998544). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AAATACAGAAGCCATCTTGTC 0.413 NA G||| 2238 0.446885 0.1838 0.5922 5008 , , NA 17733 0.6429 NA 0.3708 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 G VAL/ALA 950,3452 361.4+/-315.7 113,724,1364 174 164 168 821 1.5 0.6 11 dbSNP_86 168 3189,5403 483.4+/-371.1 617,1955,1724 yes missense OR5R1 NM_001004744.1 64 730,2679,3088 AA,AG,GG 37.1159,21.5811,31.8532 probably-damaging 274/325 56184888 4139,8855 2201 4296 6497 SO:0001583 missense AB065504 CCDS31530.1 11q11 2012-08-09 2004-03-10 ENSG00000174942 ENSG00000174942 219479 GPCR / Class A : Olfactory receptors 14841 protein-coding gene gene with protein product OR5R1P NA Standard NM_001004744 NM_001004744 NA Approved uc010rji.2 Q8NH85 OTTHUMG00000154219 ENST00000312253.1:c.821C>T chr11.hg19:g.56184888G>A ENSP00000308595:p.Ala274Val NA hg19 CCDS31530.1 0.02 20.35382 GAAxCCA COVERED 933 0.4271978021978022 85 0.17276422764227642 211 0.5828729281767956 368 0.6433566433566433 269 0.3548812664907652 G 10.26 1.300901 0.23650 0.215811 0.371159 ENSG00000174942 ENST00000312253 T 0.34275 1.37 5.52 1.53 0.23141 GPCR, rhodopsin-like superfamily (1); 0.000000 0.32593 U 0.005885 T 0.00012 0.0000 L 0.33668 1.02 0.80722 P 0.0 D 0.76494 0.999 D 0.75484 0.986 T 0.40079 -0.9582 9 0.26408 T 0.33 -11.0225 4.9356 0.13939 0.359:0.2515:0.3895:0.0 rs998544;rs52811598;rs61607512;rs998544 274 Q8NH85 OR5R1_HUMAN V 274 ENSP00000308595:A274V ENSP00000308595:A274V A - 2 0 OR5R1 55941464 0.000000 0.05858 0.634000 0.29324 0.078000 0.17371 0.518000 0.22847 0.691000 0.31592 -0.152000 0.13540 GCT NOVEL OR5R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000334444.1 0 9.803512 KEEP 0 2 67 56 2040 GG 1 1 0 - 29 60 1045 0 0 70.753469 453 60 17145 642 ENST00000312253.1 0.060166 1 OR5M3 219482 __UNKNOWN__ __UNKNOWN__ 11 56237487 56237487 __UNKNOWN__ Missense_Mutation SNP C C T rs17150664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56237487C>T ENST00000312240.2 - 1 527 c.487G>A c.(487-489)Ggc>Agc p.G163S NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 163 NA G -> S (in dbSNP:rs17150664). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) AAGTACAAGCCGTAAGTCCAT 0.403 NA c||| 90 0.0179712 0.0 0.0014 5008 , , NA 19620 0.0883 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C SER/GLY 1,4401 2.1+/-5.4 0,1,2200 122 111 115 487 4.3 0.9 11 dbSNP_123 115 3,8587 3.0+/-9.4 0,3,4292 yes missense OR5M3 NM_001004742.2 56 0,4,6492 TT,TC,CC 0.0349,0.0227,0.0308 benign 163/308 56237487 4,12988 2201 4295 6496 SO:0001583 missense AB065746 CCDS31532.1 11q11 2012-08-09 ENSG00000174937 ENSG00000174937 219482 GPCR / Class A : Olfactory receptors 14806 protein-coding gene gene with protein product NA Standard NM_001004742 NM_001004742 NA Approved uc010rjk.2 Q8NGP4 OTTHUMG00000166875 ENST00000312240.2:c.487G>A chr11.hg19:g.56237487C>T ENSP00000312208:p.Gly163Ser NA B2RNM7|Q6IEW4|Q96RC0 hg19 CCDS31532.1 0.02 11.370901 AGCxGTA COVERED 43 0.019688644688644688 0 0.0 0 0.0 43 0.07517482517482517 0 0.0 C 6.611 0.481193 0.12581 2.27E-4 3.49E-4 ENSG00000174937 ENST00000312240 T 0.00023 9.0 5.22 4.3 0.51218 GPCR, rhodopsin-like superfamily (1); 0.000000 0.48286 D 0.000192 T 0.00012 0.0000 N 0.00408 -1.53 0.19300 N 0.999977 B 0.31519 0.327 B 0.27380 0.079 T 0.02805 -1.1108 10 0.11794 T 0.64 -8.3419 7.8738 0.29582 0.0:0.7632:0.0:0.2368 rs17150664;rs52811125;rs17150664 163 Q8NGP4 OR5M3_HUMAN S 163 ENSP00000312208:G163S ENSP00000312208:G163S G - 1 0 OR5M3 55994063 0.000000 0.05858 0.936000 0.37596 0.196000 0.23810 -0.905000 0.04075 2.429000 0.82318 0.549000 0.68633 GGC NOVEL OR5M3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391639.1 2 4.213423 KEEP 0 0 0 14 470 CC 0.995343 0.995343 0 - 13 60 465 0 0 30.268833 257 60 8915 293 ENST00000312240.2 0.048148 1 OR5M1 390168 __UNKNOWN__ __UNKNOWN__ 11 56380134 56380134 __UNKNOWN__ Missense_Mutation SNP C C G rs4939078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56380134C>G ENST00000526538.1 - 1 844 c.845G>C c.(844-846)aGc>aCc p.S282T NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 282 NA S -> T (in dbSNP:rs4939078). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 CAGCATTGGGCTCAAAAAAGT 0.398 NA C||| 2095 0.418331 0.1815 0.5605 5008 , , NA 17293 0.622 NA 0.3141 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 C THR/SER 726,2938 76,574,1182 181 175 177 845 2.8 0.9 11 dbSNP_111 177 2452,5744 372,1708,2018 no missense OR5M1 NM_001004740.1 58 448,2282,3200 GG,GC,CC 29.917,19.8144,26.796 probably-damaging 282/316 56380134 3178,8682 1832 4098 5930 SO:0001583 missense AB065742 CCDS53631.1 11q11 2012-08-09 ENSG00000255012 390168 GPCR / Class A : Olfactory receptors 8352 protein-coding gene gene with protein product NA Standard NM_001004740 NM_001004740 NA Approved OST050 uc001nja.1 Q8NGP8 ENST00000526538.1:c.845G>C chr11.hg19:g.56380134C>G ENSP00000435416:p.Ser282Thr NA Q6IF60|Q96RB6 hg19 CCDS53631.1 0.02 20.034137 GGGxTCA COVERED 867 0.39697802197802196 77 0.1565040650406504 198 0.5469613259668509 354 0.6188811188811189 238 0.31398416886543534 C 12.26 1.884258 0.33255 0.198144 0.29917 ENSG00000255012 ENST00000526538 T 0.38240 1.15 3.71 2.77 0.32553 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00012 0.0000 N 0.00205 -1.85 0.41029 P 0.014854000000000034 D 0.67145 0.996 D 0.68039 0.955 T 0.15065 -1.0450 8 0.72032 D 0.01 . 6.8855 0.24197 0.1801:0.4941:0.3259:0.0 rs4939078 282 Q8NGP8 OR5M1_HUMAN T 282 ENSP00000435416:S282T ENSP00000435416:S282T S - 2 0 OR5M1 56136710 0.001000 0.12720 0.879000 0.34478 0.505000 0.33919 0.674000 0.25218 0.775000 0.33450 0.280000 0.19369 AGC NOVEL OR5M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391610.1 2 8.728504 KEEP 0 0 0 29 1041 CC 0.999997 0.999997 0 - 25 60 879 0 0 57.954112 425 60 16208 519 ENST00000526538.1 0.055556 1 OR5G5P 81191 __UNKNOWN__ __UNKNOWN__ 11 56570067 56570067 __UNKNOWN__ RNA SNP A A G rs7121576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56570067A>G ENST00000378368.2 - 0 345 olfactory receptor, family 5, subfamily G, member 5 pseudogene NA NA NA AGACATCCACAAAGGACAAGT 0.453 NA A||| 743 0.148363 0.1785 0.1801 5008 , , NA 17923 0.1171 NA 0.2018 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 11q12.1 2014-03-20 ENSG00000205025 ENSG00000205025 81191 GPCR / Class A : Olfactory receptors 15289 pseudogene pseudogene NA Standard NG_004191 NA Approved OTTHUMG00000154297 ENST00000378368.2: chr11.hg19:g.56570067A>G NA hg19 0.02 16.833652 CACxAAG COVERED NOVEL OR5G5P-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000392444.1 2 13.238268 KEEP 0 0 0 44 1343 AA 1 1 0 - 17 60 563 0 0 33.860431 413 60 15130 557 ENST00000378368.2 0.039535 1 LRRC55 219527 __UNKNOWN__ __UNKNOWN__ 11 56955091 56955091 __UNKNOWN__ 3'UTR SNP T T C rs948851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56955091T>C ENST00000497933.1 + 0 1310 NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GGACACTCATTTTGTAtgagc 0.567 NA T||| 1031 0.205871 0.1346 0.1888 5008 , , NA 21009 0.3869 NA 0.169 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31539.1 11q12.1 2008-02-05 ENSG00000183908 ENSG00000183908 219527 32324 protein-coding gene gene with protein product 615213 NA Standard NM_001005210 NM_001005210 NA Approved FLJ45686 uc001njl.2 Q6ZSA7 OTTHUMG00000159309 ENST00000497933.1:c.*137T>C chr11.hg19:g.56955091T>C NA A7E2U7|B2RN81 hg19 CCDS31539.1 0.02 4.590928 CATxTTG COVERED NOVEL LRRC55-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354503.2 1 4.511673 KEEP 0 0 0 15 441 TT 0.99649 0.99649 0 + 9 60 324 0 0 22.347853 126 60 4488 175 ENST00000497933.1 0.066667 1 LRRC55 219527 __UNKNOWN__ __UNKNOWN__ 11 56955677 56955677 __UNKNOWN__ 3'UTR SNP G G A rs11820215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:56955677G>A ENST00000497933.1 + 0 1896 NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 NA NA ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GCAGGCTGAGGATGGACACTT 0.577 NA G||| 1027 0.205072 0.1331 0.1873 5008 , , NA 21979 0.3869 NA 0.169 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31539.1 11q12.1 2008-02-05 ENSG00000183908 ENSG00000183908 219527 32324 protein-coding gene gene with protein product 615213 NA Standard NM_001005210 NM_001005210 NA Approved FLJ45686 uc001njl.2 Q6ZSA7 OTTHUMG00000159309 ENST00000497933.1:c.*723G>A chr11.hg19:g.56955677G>A NA A7E2U7|B2RN81 hg19 CCDS31539.1 0.02 8.64536 GAGxATG COVERED NOVEL LRRC55-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354503.2 0 5.116479 KEEP 0 0 0 17 591 GG 0.999366 0.999366 0 + 12 60 432 0 0 29.062367 194 60 7168 255 ENST00000497933.1 0.058252 1 P2RX3 5024 __UNKNOWN__ __UNKNOWN__ 11 57137296 57137296 __UNKNOWN__ Intron SNP G G A rs2276040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57137296G>A ENST00000263314.2 + 12 1114 NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 NA NA behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832) dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195) ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614) endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 GTCAAATGGGGTCACAAAAGA 0.552 NA G||| 2743 0.547724 0.8268 0.4841 5008 , , NA 18588 0.3631 NA 0.5924 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y07683 CCDS7953.1 11q12 2012-01-17 ENSG00000109991 ENSG00000109991 5024 Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic 8534 protein-coding gene gene with protein product 600843 NA 9221902 Standard NM_002559 NM_002559 NA Approved P2X3 uc001nju.3 P56373 OTTHUMG00000167025 ENST00000263314.2:c.1081-61G>A chr11.hg19:g.57137296G>A NA Q6DK37|Q9UQB6 hg19 CCDS7953.1 0.02 8.196464 GGGxTCA COVERED NOVEL P2RX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392465.1 1 5.718486 KEEP 0 0 0 19 676 GG 0.99986 0.99986 0 + 9 60 319 0 0 19.830602 214 60 7813 279 ENST00000263314.2 0.040359 1 RP11-872D17.8 0 __UNKNOWN__ __UNKNOWN__ 11 57166969 57166969 __UNKNOWN__ Intron SNP C C T rs3741085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57166969C>T ENST00000529411.1 - 3 303 NA NA NA TGTAACTTACCCTGTAAGTTG 0.408 NA C||| 338 0.067492 0.0371 0.0735 5008 , , NA 19163 0.0486 NA 0.1173 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000529411.1:c.304-9540G>A chr11.hg19:g.57166969C>T NA hg19 0.02 4.359163 TACxCTG COVERED NOVEL RP11-872D17.8-002 NOVEL mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000393255.1 2 4.650189 KEEP 0 1 33 27 934 CC 0.999997 0.999997 0 - 7 60 248 0 0 15.873742 143 60 5349 234 ENST00000529411.1 0.046667 1 UBE2L6 9246 __UNKNOWN__ __UNKNOWN__ 11 57334508 57334508 __UNKNOWN__ Intron SNP G G A rs4939152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57334508G>A ENST00000287156.4 - 1 223 UBE2L6_ENST00000340573.4_Intron NM_004223.4 NP_004214.1 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 NA NA cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480) cytosol (GO:0005829) ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842) large_intestine(1)|lung(3)|ovary(1) 5 ACTCCAGGAGGCCTTCCAGGT 0.527 NA G||| 963 0.192292 0.3419 0.1585 5008 , , NA 13904 0.0823 NA 0.2336 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF031141, AK093462, BC032491 CCDS7960.1, CCDS7961.1 11q12.1 2008-02-01 ENSG00000156587 ENSG00000156587 9246 Ubiquitin-conjugating enzymes E2 12490 protein-coding gene gene with protein product 603890 NA 9153201 Standard NM_004223 NM_004223 NA Approved UBCH8 uc001nkn.2 O14933 OTTHUMG00000167047 ENST00000287156.4:c.27+549C>T chr11.hg19:g.57334508G>A NA A6NDM6|A8MY53|Q8N5D8|Q9UEZ0 hg19 CCDS7960.1 0.02 16.137531 GAGxCCT COVERED 463 0.211996336996337 183 0.3719512195121951 63 0.17403314917127072 42 0.07342657342657342 175 0.23087071240105542 G 14.21 2.468425 0.43839 . . ENSG00000156587 ENST00000526659 T 0.71103 -0.54 3.04 -2.24 0.06909 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.20605 -1.0270 5 0.45353 T 0.12 . 3.9552 0.09387 0.3896:0.1946:0.4158:0.0 rs4939152;rs4939152 . . . V 8 ENSP00000434348:A8V ENSP00000434348:A8V A - 2 0 UBE2L6 57091084 0.000000 0.05858 0.001000 0.08648 0.477000 0.33069 -0.642000 0.05427 -0.459000 0.07013 0.561000 0.74099 GCC NOVEL UBE2L6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392657.1 1 71.933881 KEEP 0 0 0 239 8562 GG 1 1 0 - 12 60 428 0 0 25.044532 395 70 14456 869 ENST00000287156.4 0.029484 1 OR9Q1 219956 __UNKNOWN__ __UNKNOWN__ 11 57947264 57947264 __UNKNOWN__ Silent SNP C C G rs11229273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57947264C>G ENST00000335397.3 + 3 664 c.348C>G c.(346-348)gcC>gcG p.A116A NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 116 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) ACCTCTTGGCCCTCATGGCCT 0.557 NA C||| 1679 0.335264 0.093 0.2406 5008 , , NA 22617 0.5754 NA 0.2684 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 C 472,3930 223.3+/-239.8 28,416,1757 120 96 104 348 -2.9 0.9 11 dbSNP_120 104 2372,6220 395.6+/-345.1 319,1734,2243 no coding-synonymous OR9Q1 NM_001005212.3 347,2150,4000 GG,GC,CC 27.6071,10.7224,21.887 116/311 57947264 2844,10150 2201 4296 6497 SO:0001819 synonymous_variant AB065734 CCDS31543.1 11q12.1 2012-08-09 ENSG00000186509 219956 GPCR / Class A : Olfactory receptors 14724 protein-coding gene gene with protein product NA Standard NM_001005212 NM_001005212 NA Approved uc001nmj.3 Q8NGQ5 ENST00000335397.3:c.348C>G chr11.hg19:g.57947264C>G NA Q2TAN3|Q96RA7 hg19 CCDS31543.1 0.02 9.027498 GGCxCTC COVERED NOVEL OR9Q1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394538.2 3 7.223085 KEEP 0 0 0 24 823 CC 0.999909 0.999909 0 + 10 60 359 0 0 22.596 232 60 8380 311 ENST00000335397.3 0.041322 1 OR1S2 219958 __UNKNOWN__ __UNKNOWN__ 11 57970980 57970980 __UNKNOWN__ Missense_Mutation SNP A A G rs34249289|rs11229277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57970980A>G ENST00000302592.6 - 1 673 c.674T>C c.(673-675)gTa>gCa p.V225A NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 225 NA V -> A (in dbSNP:rs11229277).|V -> I (in dbSNP:rs11229278). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GAAGATGAGTACAAAGGGGAA 0.458 NA a||| 423 0.0844649 0.0257 0.1138 5008 , , NA 23120 0.0536 NA 0.1083 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 164 137 146 NA NA 11 NA 57970980 2201 4296 6497 SO:0001583 missense BK004297 CCDS31545.1 11q12.1 2012-08-09 ENSG00000197887 ENSG00000197887 219958 GPCR / Class A : Olfactory receptors 15141 protein-coding gene gene with protein product NA Standard NM_001004459 NM_001004459 NA Approved uc010rkb.2 Q8NGQ3 OTTHUMG00000167541 ENST00000302592.6:c.674T>C chr11.hg19:g.57970980A>G ENSP00000305469:p.Val225Ala NA Q6IFG5|Q96R85 hg19 CCDS31545.1 0.02 23.684139 AGTxCAA COVERED 109 0.04990842490842491 13 0.026422764227642278 27 0.07458563535911603 19 0.033216783216783216 50 0.06596306068601583 a 5.168 0.216627 0.09810 . . ENSG00000197887 ENST00000302592 T 0.38240 1.15 4.75 -0.698 0.11280 GPCR, rhodopsin-like superfamily (1); 0.471664 0.17897 N 0.158338 T 0.01029 0.0034 N 0.17674 0.51 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30238 -0.9985 9 0.02654 T 1 . 5.3927 0.16253 0.337:0.3756:0.2875:0.0 rs11229277;rs52800241;rs11229277 225 Q8NGQ3 OR1S2_HUMAN A 225 ENSP00000305469:V225A ENSP00000305469:V225A V - 2 0 OR1S2 57727556 0.000000 0.05858 0.260000 0.24451 0.836000 0.47400 0.422000 0.21296 0.053000 0.16036 -0.866000 0.03004 GTA NOVEL OR1S2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394703.2 2 8.424757 KEEP 0 0 0 28 865 AA 0.999997 0.999997 0 - 28 60 1035 0 0 69.769394 482 60 17034 627 ENST00000302592.6 0.054902 1 OR1S2 219958 __UNKNOWN__ __UNKNOWN__ 11 57970981 57970981 __UNKNOWN__ Missense_Mutation SNP C C T rs11229278|rs34249289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57970981C>T ENST00000302592.6 - 1 672 c.673G>A c.(673-675)Gta>Ata p.V225I NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 225 NA V -> A (in dbSNP:rs11229277).|V -> I (in dbSNP:rs11229278). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AAGATGAGTACAAAGGGGAAG 0.458 NA C||| 426 0.0850639 0.0265 0.1138 5008 , , NA 23191 0.0556 NA 0.1083 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 165 137 146 NA NA 11 NA 57970981 2201 4296 6497 SO:0001583 missense BK004297 CCDS31545.1 11q12.1 2012-08-09 ENSG00000197887 ENSG00000197887 219958 GPCR / Class A : Olfactory receptors 15141 protein-coding gene gene with protein product NA Standard NM_001004459 NM_001004459 NA Approved uc010rkb.2 Q8NGQ3 OTTHUMG00000167541 ENST00000302592.6:c.673G>A chr11.hg19:g.57970981C>T ENSP00000305469:p.Val225Ile NA Q6IFG5|Q96R85 hg19 CCDS31545.1 0.02 20.808244 GTAxAAA COVERED 109 0.04990842490842491 13 0.026422764227642278 27 0.07458563535911603 19 0.033216783216783216 50 0.06596306068601583 C 0.180 -1.063021 0.01950 . . ENSG00000197887 ENST00000302592 T 0.36699 1.24 4.75 2.83 0.33086 GPCR, rhodopsin-like superfamily (1); 0.471664 0.17897 N 0.158338 T 0.01387 0.0045 N 0.05383 -0.06 0.80722 P 0.0 B 0.14805 0.011 B 0.23852 0.049 T 0.12426 -1.0548 9 0.17369 T 0.5 . 12.7854 0.57502 0.2978:0.7022:0.0:0.0 rs11229278;rs52811080;rs11229278 225 Q8NGQ3 OR1S2_HUMAN I 225 ENSP00000305469:V225I ENSP00000305469:V225I V - 1 0 OR1S2 57727557 0.000000 0.05858 0.426000 0.26672 0.853000 0.48598 -1.185000 0.03073 0.691000 0.31592 0.655000 0.94253 GTA NOVEL OR1S2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394703.2 2 8.427725 KEEP 0 0 0 28 1019 CC 0.999997 0.999997 0 - 28 60 976 0 0 63.927705 480 60 18151 625 ENST00000302592.6 0.055118 1 OR1S2 219958 __UNKNOWN__ __UNKNOWN__ 11 57971201 57971201 __UNKNOWN__ Silent SNP G G A rs11229280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57971201G>A ENST00000302592.6 - 1 452 c.453C>T c.(451-453)gcC>gcT p.A151A NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 151 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.A151A(1) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) TGCCGAACCTGGCCCGCATGA 0.478 NA G||| 2575 0.514177 0.2806 0.4971 5008 , , NA 22031 0.7927 NA 0.4245 False NA ,,, NA NA NA 2504 0.6472 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 1327,3075 446.5+/-348.0 200,927,1074 165 156 159 453 -1.2 0 11 dbSNP_120 159 3639,4953 524.0+/-380.4 784,2071,1441 no coding-synonymous OR1S2 NM_001004459.1 984,2998,2515 AA,AG,GG 42.3534,30.1454,38.2176 151/326 57971201 4966,8028 2201 4296 6497 SO:0001819 synonymous_variant BK004297 CCDS31545.1 11q12.1 2012-08-09 ENSG00000197887 ENSG00000197887 219958 GPCR / Class A : Olfactory receptors 15141 protein-coding gene gene with protein product NA Standard NM_001004459 NM_001004459 NA Approved uc010rkb.2 Q8NGQ3 OTTHUMG00000167541 ENST00000302592.6:c.453C>T chr11.hg19:g.57971201G>A NA Q6IFG5|Q96R85 hg19 CCDS31545.1 0.02 19.136443 CCTxGCC COVERED NOVEL OR1S2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394703.2 4 12.641074 KEEP 0 0 0 42 1495 GG 1 1 0 - 25 60 934 0 0 63.944142 404 60 15332 581 ENST00000302592.6 0.058275 1 OR1S2 219958 __UNKNOWN__ __UNKNOWN__ 11 57971478 57971478 __UNKNOWN__ Missense_Mutation SNP A A G rs11229281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57971478A>G ENST00000302592.6 - 1 175 c.176T>C c.(175-177)aTt>aCt p.I59T NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 59 NA I -> T (in dbSNP:rs11229281). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) GATAGCCACAATGATGAGCCC 0.473 NA A||| 438 0.0874601 0.056 0.1095 5008 , , NA 21576 0.0417 NA 0.1083 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 A THR/ILE 230,4172 137.3+/-173.1 6,218,1977 207 192 197 176 4.3 0.9 11 dbSNP_120 197 834,7758 192.1+/-238.2 46,742,3508 yes missense OR1S2 NM_001004459.1 89 52,960,5485 GG,GA,AA 9.7067,5.2249,8.1884 probably-damaging 59/326 57971478 1064,11930 2201 4296 6497 SO:0001583 missense BK004297 CCDS31545.1 11q12.1 2012-08-09 ENSG00000197887 ENSG00000197887 219958 GPCR / Class A : Olfactory receptors 15141 protein-coding gene gene with protein product NA Standard NM_001004459 NM_001004459 NA Approved uc010rkb.2 Q8NGQ3 OTTHUMG00000167541 ENST00000302592.6:c.176T>C chr11.hg19:g.57971478A>G ENSP00000305469:p.Ile59Thr NA Q6IFG5|Q96R85 hg19 CCDS31545.1 0.02 22.331707 ACAxTGA COVERED 171 0.0782967032967033 38 0.07723577235772358 33 0.09116022099447514 22 0.038461538461538464 78 0.10290237467018469 A 11.87 1.767166 0.31320 0.052249 0.097067 ENSG00000197887 ENST00000302592 T 0.03124 4.04 4.26 4.26 0.50523 GPCR, rhodopsin-like superfamily (1); 0.274748 0.25552 N 0.029897 T 0.00384 0.0012 M 0.89414 3.03 0.44985 P 0.0019970000000000265 D 0.62365 0.991 P 0.56700 0.804 T 0.02860 -1.1101 9 0.87932 D 0 . 9.5868 0.39521 0.8241:0.1759:0.0:0.0 rs11229281 59 Q8NGQ3 OR1S2_HUMAN T 59 ENSP00000305469:I59T ENSP00000305469:I59T I - 2 0 OR1S2 57728054 0.574000 0.26684 0.928000 0.36995 0.353000 0.29299 4.177000 0.58276 1.921000 0.55644 0.533000 0.62120 ATT NOVEL OR1S2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394703.2 1 8.725043 KEEP 0 0 0 29 903 AA 0.999997 0.999997 0 - 23 60 899 0 0 60.68233 462 60 16933 597 ENST00000302592.6 0.047423 1 OR1S1 219959 __UNKNOWN__ __UNKNOWN__ 11 57982584 57982584 __UNKNOWN__ Missense_Mutation SNP T T C rs1966835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57982584T>C ENST00000309433.6 + 1 368 c.368T>C c.(367-369)aTt>aCt p.I123T NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 123 NA I -> T (in dbSNP:rs1966835). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TTTGTCGTCATTGACAATTTG 0.448 NA T||| 2620 0.523163 0.2844 0.5418 5008 , , NA 22315 0.8036 NA 0.4225 False NA ,,, NA NA NA 2504 0.6472 NA NA NA NA 0 T THR/ILE 1323,3079 445.3+/-347.6 197,929,1075 183 172 176 368 -2.6 0.4 11 dbSNP_92 176 3643,4949 524.4+/-380.5 785,2073,1438 no missense OR1S1 NM_001004458.1 89 982,3002,2513 CC,CT,TT 42.3999,30.0545,38.2176 benign 123/326 57982584 4966,8028 2201 4296 6497 SO:0001583 missense BK004299 CCDS31546.1 11q12.1 2012-08-09 ENSG00000172774 ENSG00000172774 219959 GPCR / Class A : Olfactory receptors 8227 protein-coding gene gene with protein product NA Standard NM_001004458 NM_001004458 NA Approved OST034 uc010rkc.2 Q8NH92 OTTHUMG00000167463 ENST00000309433.6:c.368T>C chr11.hg19:g.57982584T>C ENSP00000311688:p.Ile123Thr NA Q6IFG3 hg19 CCDS31546.1 0.02 16.901459 TCAxTGA COVERED 1080 0.4945054945054945 147 0.29878048780487804 187 0.5165745856353591 432 0.7552447552447552 314 0.41424802110817943 T 0.360 -0.939776 0.02322 0.300545 0.423999 ENSG00000172774 ENST00000309433 T 0.01685 4.69 3.27 -2.56 0.06268 GPCR, rhodopsin-like superfamily (1); 0.522752 0.16164 N 0.226633 T 0.00012 0.0000 N 0.01515 -0.825 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.16394 -1.0404 9 0.62326 D 0.03 . 1.4226 0.02315 0.1409:0.3037:0.1431:0.4123 rs1966835;rs52810501;rs1966835 123 Q8NH92 OR1S1_HUMAN T 123 ENSP00000311688:I123T ENSP00000311688:I123T I + 2 0 OR1S1 57739160 0.000000 0.05858 0.354000 0.25760 0.142000 0.21351 -1.070000 0.03440 -0.406000 0.07588 -1.267000 0.01435 ATT NOVEL OR1S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394705.1 3 5.451089 KEEP 0 1 34 30 951 TT 0.999997 0.999997 0 + 17 60 631 0 0 41.520211 341 60 12607 469 ENST00000309433.6 0.047486 1 OR1S1 219959 __UNKNOWN__ __UNKNOWN__ 11 57982620 57982620 __UNKNOWN__ Missense_Mutation SNP A A G rs1966834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57982620A>G ENST00000309433.6 + 1 404 c.404A>G c.(403-405)cAc>cGc p.H135R NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 135 NA H -> R (in dbSNP:rs1966834). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) GCCTATGACCACTTTGTGGCG 0.438 NA G||| 2598 0.51877 0.2844 0.5418 5008 , , NA 22010 0.8036 NA 0.4205 False NA ,,, NA NA NA 2504 0.6268 NA NA NA NA 0 GRCh37 CM035848 OR1S1 M rs1966834 G ARG/HIS 1324,3078 695.1+/-405.9 197,930,1074 182 173 176 404 3.5 1 11 dbSNP_92 176 3621,4971 625.0+/-397.7 779,2063,1454 yes missense OR1S1 NM_001004458.1 29 976,2993,2528 GG,GA,AA 42.1439,30.0772,38.056 benign 135/326 57982620 4945,8049 2201 4296 6497 SO:0001583 missense BK004299 CCDS31546.1 11q12.1 2012-08-09 ENSG00000172774 ENSG00000172774 219959 GPCR / Class A : Olfactory receptors 8227 protein-coding gene gene with protein product NA Standard NM_001004458 NM_001004458 NA Approved OST034 uc010rkc.2 Q8NH92 OTTHUMG00000167463 ENST00000309433.6:c.404A>G chr11.hg19:g.57982620A>G ENSP00000311688:p.His135Arg NA Q6IFG3 hg19 CCDS31546.1 0.02 15.049495 ACCxCTT COVERED 1083 0.4958791208791209 148 0.3008130081300813 187 0.5165745856353591 433 0.756993006993007 315 0.4155672823218997 G 0.809 -0.752849 0.03041 0.300772 0.421439 ENSG00000172774 ENST00000309433 T 0.04809 3.55 3.45 3.45 0.39498 GPCR, rhodopsin-like superfamily (1); 0.000000 0.48767 N 0.000173 T 0.00012 0.0000 N 0.00006 -3.19 0.46458 P 9.470000000000312E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.32107 -0.9919 9 0.02654 T 1 . 10.0632 0.42288 0.102:0.0:0.898:0.0 rs1966834;rs52803988;rs1966834 135 Q8NH92 OR1S1_HUMAN R 135 ENSP00000311688:H135R ENSP00000311688:H135R H + 2 0 OR1S1 57739196 1.000000 0.71417 1.000000 0.80357 0.381000 0.30169 6.004000 0.70709 0.671000 0.31185 -0.348000 0.07805 CAC NOVEL OR1S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394705.1 2 7.358047 KEEP 0 1 39 38 1202 AA 1 1 0 + 22 60 695 0 0 43.965083 356 60 12719 534 ENST00000309433.6 0.058201 1 OR1S1 219959 __UNKNOWN__ __UNKNOWN__ 11 57982832 57982832 __UNKNOWN__ Missense_Mutation SNP T T A rs2867400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57982832T>A ENST00000309433.6 + 1 616 c.616T>A c.(616-618)Ttg>Atg p.L206M NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 206 NA L -> M (in dbSNP:rs2867400). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.L206M(1) breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TTCAGATACATTGATCAATGA 0.438 NA t||| 2629 0.52496 0.2829 0.5403 5008 , , NA 19594 0.8046 NA 0.4225 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 1 Substitution - Missense(1) stomach(1) 179 140 153 NA NA 11 NA 57982832 2201 4294 6495 SO:0001583 missense BK004299 CCDS31546.1 11q12.1 2012-08-09 ENSG00000172774 ENSG00000172774 219959 GPCR / Class A : Olfactory receptors 8227 protein-coding gene gene with protein product NA Standard NM_001004458 NM_001004458 NA Approved OST034 uc010rkc.2 Q8NH92 OTTHUMG00000167463 ENST00000309433.6:c.616T>A chr11.hg19:g.57982832T>A ENSP00000311688:p.Leu206Met NA Q6IFG3 hg19 CCDS31546.1 0.02 14.025138 ACAxTGA COVERED 980 0.44871794871794873 120 0.24390243902439024 175 0.48342541436464087 413 0.722027972027972 272 0.35883905013192613 T 0.120 -1.126825 0.01770 . . ENSG00000172774 ENST00000309433 T 0.00115 8.71 3.23 0.689 0.18033 GPCR, rhodopsin-like superfamily (1); 1.756970 0.02885 N 0.133431 T 0.00012 0.0000 L 0.56280 1.765 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.23583 -1.0184 9 0.49607 T 0.09 . 1.1022 0.01686 0.3279:0.1471:0.1014:0.4237 rs2867400;rs2867400 206 Q8NH92 OR1S1_HUMAN M 206 ENSP00000311688:L206M ENSP00000311688:L206M L + 1 2 OR1S1 57739408 0.000000 0.05858 0.005000 0.12908 0.171000 0.22731 -1.315000 0.02713 0.339000 0.23719 -0.562000 0.04174 TTG NOVEL OR1S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394705.1 2 7.219242 KEEP 0 0 0 24 716 TT 0.999909 0.999909 0 + 16 51 594 0 0 38.983014 326 60 11903 404 ENST00000309433.6 0.046784 1 OR1S1 219959 __UNKNOWN__ __UNKNOWN__ 11 57982896 57982896 __UNKNOWN__ Missense_Mutation SNP G G T rs2903566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:57982896G>T ENST00000309433.6 + 1 680 c.680G>T c.(679-681)aGc>aTc p.S227I NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 227 NA S -> I (in dbSNP:rs2903566). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) TTTACACTCAGCTTCTTTTCC 0.448 NA T||| 2616 0.522364 0.2814 0.5418 5008 , , NA 21979 0.8036 NA 0.4225 False NA ,,, NA NA NA 2504 0.6472 NA NA NA NA 0 T ILE/SER 1299,3103 697.4+/-406.2 195,909,1097 157 124 135 680 2.1 0.1 11 dbSNP_101 135 3641,4949 623.4+/-397.5 784,2073,1438 yes missense OR1S1 NM_001004458.1 142 979,2982,2535 TT,TG,GG 42.3865,29.5093,38.0234 benign 227/326 57982896 4940,8052 2201 4295 6496 SO:0001583 missense BK004299 CCDS31546.1 11q12.1 2012-08-09 ENSG00000172774 ENSG00000172774 219959 GPCR / Class A : Olfactory receptors 8227 protein-coding gene gene with protein product NA Standard NM_001004458 NM_001004458 NA Approved OST034 uc010rkc.2 Q8NH92 OTTHUMG00000167463 ENST00000309433.6:c.680G>T chr11.hg19:g.57982896G>T ENSP00000311688:p.Ser227Ile NA Q6IFG3 hg19 CCDS31546.1 0.02 21.356466 TCAxCTT COVERED 1080 0.4945054945054945 146 0.2967479674796748 186 0.5138121546961326 433 0.756993006993007 315 0.4155672823218997 T 0.003 -2.561584 0.00136 0.295093 0.423865 ENSG00000172774 ENST00000309433 T 0.00010 9.43 3.23 2.08 0.27032 GPCR, rhodopsin-like superfamily (1); 0.128568 0.34828 N 0.003657 T 0.00012 0.0000 N 0.00008 -3.13 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.46569 -0.9182 9 0.02654 T 1 . 4.0934 0.09980 0.0:0.3043:0.1798:0.516 rs2903566;rs17463613;rs52823244;rs2903566 227 Q8NH92 OR1S1_HUMAN I 227 ENSP00000311688:S227I ENSP00000311688:S227I S + 2 0 OR1S1 57739472 0.027000 0.19231 0.078000 0.20375 0.442000 0.32017 1.851000 0.39338 -0.026000 0.13895 -0.527000 0.04329 AGC NOVEL OR1S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394705.1 1 14.146386 KEEP 0 0 0 47 1708 GG 1 1 0 + 28 60 1026 0 0 68.453617 499 60 19056 680 ENST00000309433.6 0.053131 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 58060082 58060082 __UNKNOWN__ IGR SNP A A G rs7109083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:58060082A>G NA NA OR10W1 (24350 upstream) : OR5B17 (65514 downstream) NA NA NA AGAACGCTGTATGTGCACACA 0.478 NA N||| 3820 0.76278 0.8419 0.7363 5008 , , NA 21090 0.8552 NA 0.6332 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.58060082A>G NA hg19 0.02 4.45048 TGTxTGT COVERED NOVEL 0 0 2.70735 KEEP 0 0 0 9 260 AA 0.99254 0.992538 0 7 60 266 0 0 18.438373 110 60 3798 139 0.059829 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 58060192 58060192 __UNKNOWN__ IGR SNP C C T rs12289961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:58060192C>T NA NA OR10W1 (24460 upstream) : OR5B17 (65404 downstream) NA NA NA GGTGAACACACGGAACACAAA 0.498 NA c||| 1386 0.276757 0.4962 0.2378 5008 , , NA 19775 0.1597 NA 0.2227 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.58060192C>T NA hg19 0.02 4.182559 ACAxGGA COVERED NOVEL 0 0 6.320224 KEEP 0 0 0 21 727 CC 0.999869 0.999869 0 6 60 222 0 0 14.387188 130 60 4578 201 0.044118 1 OR5B17 219965 __UNKNOWN__ __UNKNOWN__ 11 58125620 58125620 __UNKNOWN__ Missense_Mutation SNP T T C rs4127353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:58125620T>C ENST00000357377.3 - 1 922 c.923A>G c.(922-924)tAt>tGt p.Y308C NM_001005489.1 NP_001005489.1 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, member 17 308 NA Y -> C (in dbSNP:rs4127353). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATCTAGAGAATATTTTGCCTT 0.328 NA c||| 3660 0.730831 0.7307 0.7334 5008 , , NA 20467 0.8562 NA 0.6312 False NA ,,, NA NA NA 2504 0.7025 NA NA NA NA 0 C CYS/TYR 3240,1162 410.2+/-335.3 1188,864,149 93 92 92 923 -5.2 0 11 dbSNP_108 92 5449,3141 474.9+/-369.0 1717,2015,563 yes missense OR5B17 NM_001005489.1 194 2905,2879,712 CC,CT,TT 36.5658,26.3971,33.1204 benign 308/315 58125620 8689,4303 2201 4295 6496 SO:0001583 missense AB065849 CCDS31548.1 11q12.1 2012-08-09 ENSG00000197786 ENSG00000197786 219965 GPCR / Class A : Olfactory receptors 15267 protein-coding gene gene with protein product OR5B20P NA Standard NM_001005489 NM_001005489 NA Approved uc010rke.2 Q8NGF7 OTTHUMG00000167465 ENST00000357377.3:c.923A>G chr11.hg19:g.58125620T>C ENSP00000349945:p.Tyr308Cys NA Q6IEX1 hg19 CCDS31548.1 0.02 35.015382 GAAxATT COVERED 1560 0.7142857142857143 332 0.6747967479674797 273 0.7541436464088398 477 0.833916083916084 478 0.6306068601583114 c 5.148 0.212877 0.09757 0.736029 0.634342 ENSG00000197786 ENST00000357377 T 0.00363 7.83 2.58 -5.15 0.02866 . . . . . T 0.00012 0.0000 N 0.04508 -0.205 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.36480 -0.9746 8 0.34782 T 0.22 15.9981 0.2523 0.00207 0.2327:0.1805:0.2112:0.3757 rs4127353;rs56431252;rs4127353 308 Q8NGF7 OR5BH_HUMAN C 308 ENSP00000349945:Y308C ENSP00000349945:Y308C Y - 2 0 OR5B17 57882196 0.000000 0.05858 0.000000 0.03702 0.278000 0.26855 -2.791000 0.00767 -2.914000 0.00307 -0.741000 0.03529 TAT NOVEL OR5B17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394708.2 1 4.883732 KEEP 0 2 68 40 1251 TT 1 1 0 - 29 60 1119 0 0 72.016264 746 60 27493 998 ENST00000357377.3 0.037419 1 RP11-142C4.6 0 __UNKNOWN__ __UNKNOWN__ 11 58817625 58817625 __UNKNOWN__ RNA SNP A A G rs564404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:58817625A>G ENST00000533954.1 - 0 507 RP11-142C4.6_ENST00000532098.1_RNA NR_033853.1 NA NA NA GAGGGGATAAAAGCAGCTGCA 0.413 NA -||| 3161 0.63119 0.5053 0.5504 5008 , , NA 14918 0.7887 NA 0.5964 False NA ,,, NA NA NA 2504 0.7321 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000533954.1: chr11.hg19:g.58817625A>G NA hg19 0.02 2.245035 TAAxAGC COVERED NOVEL RP11-142C4.6-001 KNOWN basic antisense NA antisense OTTHUMT00000394603.1 2 2.407413 KEEP 7 0 0 8 256 AA 0.99257 0.992501 0 - 45 40 1698 0 0 162.452187 51 60 1849 128 ENST00000533954.1 0.46875 0.99993 MPEG1 219972 __UNKNOWN__ __UNKNOWN__ 11 58976634 58976634 __UNKNOWN__ 3'UTR SNP G G A rs1048696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:58976634G>A ENST00000361050.3 - 0 3790 NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 NA NA integral component of membrane (GO:0016021) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TCAAGAGAGCGGGCTCAAATT 0.463 NA G||| 635 0.126797 0.0144 0.0533 5008 , , NA 17951 0.3155 NA 0.1153 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097211 CCDS41650.1 11q12.1 2013-07-31 ENSG00000197629 219972 29619 protein-coding gene gene with protein product macrophage expressed gene 1 610390 NA 7888681, 23257510 Standard NM_001039396 NM_001039396 NA Approved MPG1 uc001nnu.4 Q2M385 ENST00000361050.3:c.*1554C>T chr11.hg19:g.58976634G>A NA Q2M1T6|Q8TEF8 hg19 CCDS41650.1 0.02 4.560906 AGCxGGC COVERED NOVEL MPEG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370027.1 0 9.763794 KEEP 0 1 30 43 1413 GG 1 1 0 - 6 60 219 1 0 14.271 121 60 4294 208 ENST00000361050.3 0.047244 1 MPEG1 219972 __UNKNOWN__ __UNKNOWN__ 11 58978684 58978684 __UNKNOWN__ Missense_Mutation SNP G G A rs7926933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:58978684G>A ENST00000361050.3 - 1 1740 c.1655C>T c.(1654-1656)cCg>cTg p.P552L NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 552 NA P -> L (in dbSNP:rs7926933). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) TTTCAGAGACGGTGCCCCTAA 0.567 NA G||| 575 0.114816 0.0144 0.0403 5008 , , NA 15770 0.3046 NA 0.1153 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 G LEU/PRO 88,3646 1,86,1780 41 46 44 1655 4.7 0 11 dbSNP_116 44 949,7241 59,831,3205 yes missense MPEG1 NM_001039396.1 98 60,917,4985 AA,AG,GG 11.5873,2.3567,8.6967 probably-damaging 552/717 58978684 1037,10887 1867 4095 5962 SO:0001583 missense AK097211 CCDS41650.1 11q12.1 2013-07-31 ENSG00000197629 219972 29619 protein-coding gene gene with protein product macrophage expressed gene 1 610390 NA 7888681, 23257510 Standard NM_001039396 NM_001039396 NA Approved MPG1 uc001nnu.4 Q2M385 ENST00000361050.3:c.1655C>T chr11.hg19:g.58978684G>A ENSP00000354335:p.Pro552Leu NA Q2M1T6|Q8TEF8 hg19 CCDS41650.1 0.02 8.529927 GACxGTG COVERED 256 0.11721611721611722 12 0.024390243902439025 19 0.052486187845303865 138 0.24125874125874125 87 0.11477572559366754 G 11.39 1.623521 0.28889 0.023567 0.115873 ENSG00000197629 ENST00000361050 T 0.22743 1.94 5.57 4.66 0.58398 . 0.122446 0.37178 N 0.002202 T 0.00012 0.0000 L 0.50333 1.59 0.46298 P 0.0010250000000000536 B 0.27951 0.195 B 0.20577 0.03 T 0.22871 -1.0204 9 0.49607 T 0.09 -3.2086 11.5241 0.50569 0.0836:0.0:0.9164:0.0 rs7926933;rs17153443;rs52824778;rs7926933 552 Q2M385 MPEG1_HUMAN L 552 ENSP00000354335:P552L ENSP00000354335:P552L P - 2 0 MPEG1 58735260 1.000000 0.71417 0.014000 0.15608 0.002000 0.02628 3.854000 0.55949 1.364000 0.46038 0.655000 0.94253 CCG NOVEL MPEG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370027.1 1 18.356236 KEEP 0 0 0 61 2000 GG 1 1 0 - 10 60 363 0 0 23.206478 221 60 7608 347 ENST00000361050.3 0.04329 1 MS4A3 932 __UNKNOWN__ __UNKNOWN__ 11 59830145 59830145 __UNKNOWN__ Intron SNP G G T rs80131311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:59830145G>T ENST00000278865.3 + 3 367 MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron|MS4A3_ENST00000395032.2_Intron NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) TGTGTTTGATGACAAAAATAT 0.368 NA G||| 126 0.0251597 0.0008 0.0259 5008 , , NA 16244 0.1062 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L35848 CCDS31567.1, CCDS31568.1, CCDS41651.1 11q12-q13.1 2008-03-25 ENSG00000149516 932 7317 protein-coding gene gene with protein product 606498 CD20L NA 7524084 Standard NM_006138 NA Approved HTM4 uc001nom.3 Q96HJ5 ENST00000278865.3:c.294+67G>T chr11.hg19:g.59830145G>T NA A8MTP8|Q8NHW2 hg19 CCDS31567.1 0.02 4.247098 GATxACA COVERED NOVEL MS4A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394417.1 0 3.009682 KEEP 0 0 0 10 347 GG 0.992708 0.992708 0 + 5 60 180 0 0 11.023335 135 60 5101 170 ENST00000278865.3 0.035714 1 MS4A4A 51338 __UNKNOWN__ __UNKNOWN__ 11 60050125 60050125 __UNKNOWN__ Intron SNP A A G rs10792260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60050125A>G ENST00000337908.4 + 1 131 MS4A4A_ENST00000355131.3_5'UTR|MS4A4A_ENST00000395016.3_5'UTR|MS4A4A_ENST00000532114.1_Intron NM_148975.2 NP_683876.1 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A NA NA integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 CAGATGTCTCAATATAGGAAT 0.348 NA A||| 2680 0.535144 0.3744 0.768 5008 , , NA 19372 0.5486 NA 0.6521 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB013102 CCDS7982.1, CCDS58135.1 11q12 2012-02-28 2012-02-28 ENSG00000110079 ENSG00000110079 51338 13371 protein-coding gene gene with protein product 606547 membrane-spanning 4-domains, subfamily A, member 4 MS4A4 NA 11245982, 11401424 Standard NM_148975 NA Approved CD20L1, MS4A7 uc001noz.3 Q96JQ5 OTTHUMG00000154949 ENST00000337908.4:c.41+1936A>G chr11.hg19:g.60050125A>G NA Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3 hg19 CCDS7982.1 0.02 8.750814 CTCxATA COVERED NOVEL MS4A4A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000337774.2 0 7.82096 KEEP 0 0 0 26 771 AA 0.999957 0.999957 0 + 7 60 266 0 0 16.362145 221 60 8086 301 ENST00000337908.4 0.030702 1 MS4A4A 51338 __UNKNOWN__ __UNKNOWN__ 11 60070176 60070176 __UNKNOWN__ Missense_Mutation SNP A A G rs6591561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60070176A>G ENST00000337908.4 + 5 622 c.532A>G c.(532-534)Atg>Gtg p.M178V MS4A4A_ENST00000355131.3_Missense_Mutation_p.M159V|MS4A4A_ENST00000395016.3_Missense_Mutation_p.M159V|MS4A4A_ENST00000532114.1_Intron NM_148975.2 NP_683876.1 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 4A 178 NA M -> V (in dbSNP:rs6591561). integral component of membrane (GO:0016021) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4) 23 TCATGGGACTATGTCCATCTT 0.388 NA A||| 1648 0.329073 0.3525 0.1844 5008 , , NA 19686 0.3849 NA 0.331 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 A VAL/MET,VAL/MET 1386,3020 456.9+/-351.5 209,968,1026 150 130 137 475,532 -5.8 0 11 dbSNP_116 137 2497,6103 410.8+/-350.3 369,1759,2172 yes missense,missense MS4A4A NM_024021.3,NM_148975.2 21,21 578,2727,3198 GG,GA,AA 29.0349,31.4571,29.8555 benign,benign 159/221,178/240 60070176 3883,9123 2203 4300 6503 SO:0001583 missense AB013102 CCDS7982.1, CCDS58135.1 11q12 2012-02-28 2012-02-28 ENSG00000110079 ENSG00000110079 51338 13371 protein-coding gene gene with protein product 606547 membrane-spanning 4-domains, subfamily A, member 4 MS4A4 NA 11245982, 11401424 Standard NM_148975 NA Approved CD20L1, MS4A7 uc001noz.3 Q96JQ5 OTTHUMG00000154949 ENST00000337908.4:c.532A>G chr11.hg19:g.60070176A>G ENSP00000338648:p.Met178Val NA Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3 hg19 CCDS7982.1 0.02 14.61413 ACTxTGT COVERED 705 0.3228021978021978 178 0.3617886178861789 83 0.2292817679558011 210 0.36713286713286714 234 0.3087071240105541 A 0 -2.795470 0.00076 0.314571 0.290349 ENSG00000110079 ENST00000337908;ENST00000355131;ENST00000395016 T;T;T 0.02158 4.42;4.42;4.42 2.89 -5.79 0.02354 . 2.898180 0.01956 N 0.043012 T 0.00012 0.0000 N 0.00408 -1.53 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41052 -0.9530 9 0.12430 T 0.62 9.3152 2.14 0.03772 0.1566:0.1123:0.4253:0.3058 rs6591561;rs11552430;rs52837371;rs58618649;rs6591561 178 Q96JQ5 M4A4A_HUMAN V 178;159;159 ENSP00000338648:M178V;ENSP00000347252:M159V;ENSP00000378462:M159V ENSP00000338648:M178V M + 1 0 MS4A4A 59826752 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -5.866000 0.00093 -4.728000 0.00034 -2.713000 0.00133 ATG NOVEL MS4A4A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000337774.2 0 6.016838 KEEP 0 0 0 20 596 AA 0.999863 0.999863 0 + 16 60 612 0 0 41.501855 293 60 10751 378 ENST00000337908.4 0.05178 1 MS4A7 58475 __UNKNOWN__ __UNKNOWN__ 11 60152563 60152563 __UNKNOWN__ Silent SNP T T A rs950803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60152563T>A ENST00000530234.2 + 3 289 c.150T>A c.(148-150)acT>acA p.T50T MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000300184.3_Silent_p.T50T|MS4A7_ENST00000358246.1_Intron|MS4A14_ENST00000531787.1_Intron Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 50 NA integral component of membrane (GO:0016021) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 TCTTGTAGACTGTCCAGATCC 0.408 NA T||| 2968 0.592652 0.4939 0.7061 5008 , , NA 17962 0.5972 NA 0.6501 False NA ,,, NA NA NA 2504 0.5818 NA NA NA NA 0 T ,,, 2156,2250 581.8+/-385.5 517,1122,564 146 144 145 150,,150, -1.9 0 11 dbSNP_86 145 5549,3051 662.1+/-401.9 1792,1965,543 no coding-synonymous,intron,coding-synonymous,intron MS4A7 NM_021201.4,NM_206938.1,NM_206939.1,NM_206940.1 ,,, 2309,3087,1107 AA,AT,TT 35.4767,48.9333,40.7581 ,,, 50/241,,50/241, 60152563 7705,5301 2203 4300 6503 SO:0001819 synonymous_variant AB026043 CCDS7985.1, CCDS7986.1 11q12 2008-03-25 ENSG00000166927 58475 13378 protein-coding gene gene with protein product 606502 NA 11245982, 11401424 Standard NM_021201 NA Approved CD20L4, CFFM4, MS4A8 uc001npf.3 Q9GZW8 ENST00000530234.2:c.150T>A chr11.hg19:g.60152563T>A NA A6NP53|Q6IAG8 hg19 0.02 9.560639 GACxGTC COVERED NOVEL MS4A7-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395378.2 1 4.348287 KEEP 0 1 33 26 832 TT 0.999988 0.999988 0 + 9 60 340 0 0 22.280519 195 60 7355 307 ENST00000530234.2 0.044118 1 MS4A1 931 __UNKNOWN__ __UNKNOWN__ 11 60237378 60237378 __UNKNOWN__ 3'UTR SNP T T A rs17155034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60237378T>A ENST00000534668.1 + 0 2620 MS4A1_ENST00000532073.1_3'UTR|MS4A1_ENST00000345732.4_3'UTR|MS4A1_ENST00000389939.2_3'UTR NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 NA NA B cell proliferation (GO:0042100)|humoral immune response (GO:0006959) external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) MHC class II protein complex binding (GO:0023026) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081) ACAATGTAATTTGCACTCCCT 0.368 NA T||| 147 0.029353 0.0 0.1153 5008 , , NA 16346 0.0635 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M27394 CCDS31570.1 11q12-q13.1 2014-09-17 ENSG00000156738 931 CD molecules 7315 protein-coding gene gene with protein product 112210 CD20 NA 2448768 Standard NM_152866 NA Approved B1, Bp35, MS4A2 uc001npq.3 P11836 ENST00000534668.1:c.*1437T>A chr11.hg19:g.60237378T>A NA A6NMS4|B4DT24|P08984|Q13963 hg19 CCDS31570.1 0.02 4.199979 AATxTGC COVERED NOVEL MS4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395402.1 2 7.521364 KEEP 0 0 0 25 772 TT 0.999931 0.999931 0 + 7 60 253 0 0 16.711436 127 60 4577 203 ENST00000534668.1 0.052239 1 MS4A1 931 __UNKNOWN__ __UNKNOWN__ 11 60237414 60237414 __UNKNOWN__ 3'UTR SNP C C G rs17155041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60237414C>G ENST00000534668.1 + 0 2656 MS4A1_ENST00000532073.1_3'UTR|MS4A1_ENST00000345732.4_3'UTR|MS4A1_ENST00000389939.2_3'UTR NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 NA NA B cell proliferation (GO:0042100)|humoral immune response (GO:0006959) external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) MHC class II protein complex binding (GO:0023026) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081) TTTTAGCGACCACTAGTGGAA 0.333 NA C||| 147 0.029353 0.0 0.1153 5008 , , NA 17725 0.0635 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M27394 CCDS31570.1 11q12-q13.1 2014-09-17 ENSG00000156738 931 CD molecules 7315 protein-coding gene gene with protein product 112210 CD20 NA 2448768 Standard NM_152866 NA Approved B1, Bp35, MS4A2 uc001npq.3 P11836 ENST00000534668.1:c.*1473C>G chr11.hg19:g.60237414C>G NA A6NMS4|B4DT24|P08984|Q13963 hg19 CCDS31570.1 0.02 4.086455 GACxACT COVERED NOVEL MS4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395402.1 0 6.621468 KEEP 0 0 0 22 770 CC 0.999879 0.999879 0 + 6 60 207 0 0 12.686978 141 60 5230 197 ENST00000534668.1 0.040816 1 MS4A18 728588 __UNKNOWN__ __UNKNOWN__ 11 60511059 60511059 __UNKNOWN__ Intron SNP A A T rs11821421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60511059A>T ENST00000398983.2 + 6 852 Q3C1V0 M4A18_HUMAN membrane-spanning 4-domains, subfamily A, member 18 NA NA integral component of membrane (GO:0016021) NA GAAGAAAAAAATTATGGCCAT 0.443 NA T||| 1178 0.235224 0.3986 0.1268 5008 , , NA 23989 0.253 NA 0.1123 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 11q12.2 2009-12-01 ENSG00000214782 728588 37636 protein-coding gene gene with protein product NA Standard XM_001715696 XM_006709948 NA Approved Q3C1V0 ENST00000398983.2:c.853-64A>T chr11.hg19:g.60511059A>T NA hg19 0.02 17.188997 AAAxTTA COVERED NOVEL MS4A18-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 4 10.231608 KEEP 0 0 0 34 1089 AA 0.999998 0.999998 0 + 15 60 549 1 0 34.278082 386 60 13606 520 ENST00000398983.2 0.037406 1 TMEM132A 54972 __UNKNOWN__ __UNKNOWN__ 11 60699230 60699230 __UNKNOWN__ Silent SNP G G A rs2285733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60699230G>A ENST00000005286.4 + 6 1242 c.1089G>A c.(1087-1089)gcG>gcA p.A363A TMEM132A_ENST00000453848.2_Silent_p.A362A NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 362 NA endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GGGGCGTAGCGGTCACTCGCC 0.577 NA G||| 360 0.071885 0.0083 0.0735 5008 , , NA 18888 0.1905 NA 0.0129 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 G , 27,4379 33.5+/-64.1 0,27,2176 117 112 114 1089,1086 -9.6 0.5 11 dbSNP_100 114 116,8482 61.3+/-123.2 0,116,4183 no coding-synonymous,coding-synonymous TMEM132A NM_017870.3,NM_178031.2 , 0,143,6359 AA,AG,GG 1.3492,0.6128,1.0997 , 363/1025,362/1024 60699230 143,12861 2203 4299 6502 SO:0001819 synonymous_variant AK000546 CCDS7997.1, CCDS44618.1 11q12.2 2006-03-02 2006-03-02 2006-03-02 ENSG00000006118 ENSG00000006118 54972 31092 protein-coding gene gene with protein product heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1 HSPA5BP1 NA 12514190, 10997877 Standard NM_017870 NM_017870 NA Approved GBP, FLJ20539 uc001nqi.3 Q24JP5 OTTHUMG00000167803 ENST00000005286.4:c.1089G>A chr11.hg19:g.60699230G>A NA Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0 hg19 CCDS7997.1 0.02 9.404096 AGCxGTC COVERED 157 0.07188644688644688 9 0.018292682926829267 28 0.07734806629834254 110 0.19230769230769232 10 0.013192612137203167 G 9.739 1.164255 0.21538 0.006128 0.013492 ENSG00000006118 ENST00000536409 . . . 4.79 -9.58 0.00559 . . . . . T 0.00039 0.0001 . . . 0.32797 P 0.500393 . . . . . . T 0.11518 -1.0584 3 . . . . 4.3243 0.11032 0.6008:0.1537:0.0913:0.1542 rs2285733;rs17845984;rs17858966 . . . S 2 . . G + 1 0 TMEM132A 60455806 0.000000 0.05858 0.455000 0.27031 0.957000 0.61999 -5.697000 0.00104 -2.300000 0.00658 0.455000 0.32223 GGT NOVEL TMEM132A-002 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396353.1 0 17.454663 KEEP 0 0 0 58 1973 GG 1 1 0 + 7 60 273 0 0 17.323263 203 60 6851 323 ENST00000005286.4 0.033333 1 VPS37C 55048 __UNKNOWN__ __UNKNOWN__ 11 60906335 60906335 __UNKNOWN__ Intron SNP G G A rs185271051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:60906335G>A ENST00000301765.5 - 2 227 NM_017966.4 NP_060436.4 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37 homolog C (S. cerevisiae) NA NA endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062) breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 CCAAAGTAACGAACAGGCAGC 0.517 NA G||| 42 0.00838658 0.0008 0.0 5008 , , NA 17608 0.0387 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G 2,4404 4.2+/-10.8 0,2,2201 66 59 61 1.4 0 11 61 0,8598 0,0,4299 no intron VPS37C NM_017966.4 0,2,6500 AA,AG,GG 0.0,0.0454,0.0154 60906335 2,13002 2203 4299 6502 SO:0001627 intron_variant AK097326 CCDS31573.1 11q12.2 2008-02-05 2006-04-04 ENSG00000167987 55048 26097 protein-coding gene gene with protein product 610038 vacuolar protein sorting 37C (yeast) NA 15509564 Standard NM_017966 XM_005274077 NA Approved FLJ20847 uc001nqv.1 A5D8V6 ENST00000301765.5:c.6-28C>T chr11.hg19:g.60906335G>A NA Q8N3K4 hg19 CCDS31573.1 0.02 24.541191 AACxAAC COVERED NOVEL VPS37C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396467.1 4 39.706199 KEEP 0 0 0 132 4293 GG 1 1 0 - 28 60 993 0 0 64.30831 545 60 18663 934 ENST00000301765.5 0.048866 1 PGA5 5222 __UNKNOWN__ __UNKNOWN__ 11 61017372 61017372 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61017372C>T ENST00000312403.5 + 8 1103 PGA5_ENST00000451616.2_Intron|PGA5_ENST00000541528.1_Intron|PGA4_ENST00000422676.2_Intron NM_014224.2 NP_055039.1 P0DJD9 PEPA5_HUMAN pepsinogen 5, group I (pepsinogen A) NA NA digestion (GO:0007586) extracellular vesicular exosome (GO:0070062) aspartic-type endopeptidase activity (GO:0004190) large_intestine(1)|skin(1) 2 ACTTTTCTCACCCTCACTCTT 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 97 93 94 NA NA 11 NA 61017372 2202 4299 6501 SO:0001627 intron_variant BC029055 CCDS8001.1 11q13 2012-10-02 ENSG00000256713 ENSG00000256713 5222 3.4.23.1 8887 protein-coding gene gene with protein product 169730 NA Standard NM_014224 NM_014224 NA Approved uc001nqz.3 P0DJD9 OTTHUMG00000168075 ENST00000312403.5:c.919-16C>T chr11.hg19:g.61017372C>T NA A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3 hg19 CCDS8001.1 0.02 4.059893 TCAxCCT COVERED NOVEL PGA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397972.1 1 17.457199 KEEP 7 0 0 58 2081 CC 1 1 0 + 8 60 273 0 0 17.886953 133 60 4979 278 ENST00000312403.5 0.056738 1 DDB1 1642 __UNKNOWN__ __UNKNOWN__ 11 61090082 61090082 __UNKNOWN__ Intron SNP G G T rs117147037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61090082G>T ENST00000301764.7 - 9 1403 DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa NA NA DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) damaged DNA binding (GO:0003684)|DNA binding (GO:0003677) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AATCAGCcaaggattgctgac 0.413 NA Nucleotide excision repair (NER) G||| 41 0.0081869 0.0 0.0 5008 , , NA 21348 0.0387 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ002955 CCDS31576.1 11q12-q13 2014-09-17 2002-08-29 ENSG00000167986 ENSG00000167986 1642 2717 protein-coding gene gene with protein product 600045 damage-specific DNA binding protein 1 (127kD) NA 8530102, 10574459 Standard NM_001923 NM_001923 NA Approved XPE uc001nrc.5 Q16531 OTTHUMG00000168209 ENST00000301764.7:c.1006-198C>A chr11.hg19:g.61090082G>T NA A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96 hg19 CCDS31576.1 0.02 6.598421 CAAxGAT COVERED NOVEL DDB1-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398816.1 1 5.718654 KEEP 0 0 0 19 680 GG 0.99986 0.99986 0 - 6 60 221 0 0 13.75941 160 60 5789 204 ENST00000301764.7 0.036145 1 PPP1R32 220004 __UNKNOWN__ __UNKNOWN__ 11 61249383 61249383 __UNKNOWN__ Silent SNP C C A rs3019200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61249383C>A ENST00000338608.2 + 2 227 c.102C>A c.(100-102)acC>acA p.T34T RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Silent_p.T34T|RP11-286N22.8_ENST00000543044.1_3'UTR NM_145017.2 NP_659454.2 Q7Z5V6 PPR32_HUMAN protein phosphatase 1, regulatory subunit 32 34 NA phosphatase binding (GO:0019902) NA GCTACTGCACCGCCTACGGTG 0.617 NA A||| 3884 0.775559 0.5008 0.8458 5008 , , NA 19122 0.9732 NA 0.826 False NA ,,, NA NA NA 2504 0.8415 NA NA NA NA 0 A , 2354,2050 558.9+/-380.1 639,1076,487 35 34 34 102,102 -0.7 0.8 11 dbSNP_101 34 7027,1571 286.2+/-297.6 2878,1271,150 no coding-synonymous,coding-synonymous C11orf66 NM_001170753.1,NM_145017.2 , 3517,2347,637 AA,AC,CC 18.2717,46.5486,27.8496 , 34/406,34/426 61249383 9381,3621 2202 4299 6501 SO:0001819 synonymous_variant AK057333 CCDS8008.1, CCDS53641.1 11q12.2 2012-04-17 2011-10-11 2011-10-11 ENSG00000162148 ENSG00000162148 220004 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 28869 protein-coding gene gene with protein product chromosome 11 open reading frame 66 C11orf66 NA 12477932 Standard NM_145017 NM_145017 NA Approved IIIG9, FLJ32771 uc001nru.2 Q7Z5V6 OTTHUMG00000168176 ENST00000338608.2:c.102C>A chr11.hg19:g.61249383C>A NA Q4G0P4|Q96M77 hg19 CCDS8008.1 0.02 14.095422 CACxGCC COVERED NOVEL PPP1R32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398621.1 0 19.544851 KEEP 0 0 0 65 2230 CC 1 1 0 + 14 60 523 0 0 33.759762 320 60 11277 521 ENST00000338608.2 0.041916 1 DAGLA 747 __UNKNOWN__ __UNKNOWN__ 11 61490245 61490245 __UNKNOWN__ Intron SNP G G A rs17156254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61490245G>A ENST00000257215.5 + 4 423 NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha NA NA arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) AAAGCCCAGCGATAGGAAAGG 0.652 NA G||| 1108 0.221246 0.1029 0.3228 5008 , , NA 15167 0.1855 NA 0.2107 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014559 CCDS31578.1 11q12.3 2008-03-18 2007-02-28 2007-02-28 ENSG00000134780 747 3.1.1.- 1165 protein-coding gene gene with protein product neural stem cell-derived dendrite regulator 614015 chromosome 11 open reading frame 11 C11orf11 NA 9734811 Standard NM_006133 NM_006133 NA Approved KIAA0659, NSDDR, DAGLALPHA uc001nsa.3 Q9Y4D2 ENST00000257215.5:c.308-86G>A chr11.hg19:g.61490245G>A NA A7E233|Q6WQJ0 hg19 CCDS31578.1 0.02 5.824772 AGCxATA COVERED NOVEL DAGLA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398516.1 0 6.31983 KEEP 0 0 0 21 691 GG 0.999869 0.999869 0 + 6 60 215 0 0 13.023025 169 60 5392 208 ENST00000257215.5 0.034286 1 DAGLA 747 __UNKNOWN__ __UNKNOWN__ 11 61508074 61508074 __UNKNOWN__ Intron SNP C C T rs11828739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61508074C>T ENST00000257215.5 + 18 2099 NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha NA NA arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GGTGAGGCAGCTCCCGGCAGG 0.577 NA C||| 1165 0.232628 0.2141 0.2478 5008 , , NA 21357 0.1508 NA 0.2087 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 C 860,3544 337.6+/-304.9 89,682,1431 133 115 121 -0.1 0 11 dbSNP_120 121 1655,6943 305.3+/-307.4 172,1311,2816 no intron DAGLA NM_006133.2 261,1993,4247 TT,TC,CC 19.2487,19.5277,19.3432 61508074 2515,10487 2202 4299 6501 SO:0001627 intron_variant AB014559 CCDS31578.1 11q12.3 2008-03-18 2007-02-28 2007-02-28 ENSG00000134780 747 3.1.1.- 1165 protein-coding gene gene with protein product neural stem cell-derived dendrite regulator 614015 chromosome 11 open reading frame 11 C11orf11 NA 9734811 Standard NM_006133 NM_006133 NA Approved KIAA0659, NSDDR, DAGLALPHA uc001nsa.3 Q9Y4D2 ENST00000257215.5:c.1983+10C>T chr11.hg19:g.61508074C>T NA A7E233|Q6WQJ0 hg19 CCDS31578.1 0.02 12.225437 CAGxTCC COVERED NOVEL DAGLA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398516.1 2 16.553587 KEEP 0 0 0 55 1976 CC 1 1 0 + 9 60 328 0 0 19.159852 322 60 12186 499 ENST00000257215.5 0.02719 1 MYRF 745 __UNKNOWN__ __UNKNOWN__ 11 61522959 61522959 __UNKNOWN__ Intron SNP G G T rs2286008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61522959G>T ENST00000278836.5 + 1 142 MYRF_ENST00000265460.5_Intron|RP11-467L20.10_ENST00000536405.1_lincRNA NM_001127392.1 NP_001120864.1 Q9Y2G1 MRF_HUMAN myelin regulatory factor NA NA central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA CCAGAGCCAGGGCAGGCACGG 0.642 NA G||| 271 0.0541134 0.0446 0.0014 5008 , , NA 16096 0.122 NA 0.001 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 G , 136,4258 88.2+/-126.9 3,130,2064 32 32 32 , 3.2 0 11 dbSNP_100 32 7,8585 4.3+/-15.6 0,7,4289 no intron,intron C11orf9 NM_001127392.1,NM_013279.2 , 3,137,6353 TT,TG,GG 0.0815,3.0951,1.1012 , , 61522959 143,12843 2197 4296 6493 SO:0001627 intron_variant CCDS31579.1, CCDS44622.1 11q12-q13.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000124920 ENSG00000124920 745 1181 protein-coding gene gene with protein product myelin gene regulatory factor 608329 chromosome 11 open reading frame 9 C11orf9 NA 10828591, 12384578 Standard NM_013279 NM_001127392 NA Approved Ndt80, pqn-47, MRF uc001nsc.1 Q9Y2G1 OTTHUMG00000168161 ENST00000278836.5:c.46+2697G>T chr11.hg19:g.61522959G>T NA O43582|Q9P1Q6 hg19 CCDS44622.1 0.02 6.340533 CAGxGCA COVERED NOVEL MYRF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398519.2 0 24.679718 KEEP 0 0 0 82 2868 GG 1 1 0 + 7 60 257 0 0 16.740816 144 60 5267 295 ENST00000278836.5 0.046358 1 MYRF 745 __UNKNOWN__ __UNKNOWN__ 11 61547237 61547237 __UNKNOWN__ Intron SNP C C T rs108499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61547237C>T ENST00000278836.5 + 17 2343 TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Intron|MYRF_ENST00000265460.5_Intron|MYRF_ENST00000389602.4_Intron NM_001127392.1 NP_001120864.1 Q9Y2G1 MRF_HUMAN myelin regulatory factor NA NA central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA ACCGCTCCTCCGACCTCCAGC 0.607 NA C||| 1441 0.28774 0.0219 0.5778 5008 , , NA 19727 0.5556 NA 0.333 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31579.1, CCDS44622.1 11q12-q13.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000124920 ENSG00000124920 745 1181 protein-coding gene gene with protein product myelin gene regulatory factor 608329 chromosome 11 open reading frame 9 C11orf9 NA 10828591, 12384578 Standard NM_013279 NM_001127392 NA Approved Ndt80, pqn-47, MRF uc001nsc.1 Q9Y2G1 OTTHUMG00000168161 ENST00000278836.5:c.2248-77C>T chr11.hg19:g.61547237C>T NA O43582|Q9P1Q6 hg19 CCDS44622.1 0.02 6.437244 CTCxGAC COVERED NOVEL MYRF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398519.2 3 14.882435 KEEP 0 1 30 60 2073 CC 1 1 0 + 10 60 366 0 0 24.755307 164 60 5889 294 ENST00000278836.5 0.057471 1 MYRF 745 __UNKNOWN__ __UNKNOWN__ 11 61549025 61549025 __UNKNOWN__ Intron SNP G G A rs174533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61549025G>A ENST00000278836.5 + 22 2860 TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Intron|MYRF_ENST00000389602.4_Intron NM_001127392.1 NP_001120864.1 Q9Y2G1 MRF_HUMAN myelin regulatory factor NA NA central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA TTCTTAGCCTGTGCCTGGTTC 0.572 NA G||| 1524 0.304313 0.025 0.5893 5008 , , NA 18883 0.5665 NA 0.3479 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 G , 406,3992 34,338,1827 30 34 33 , 0.3 0 11 dbSNP_79 33 2801,5795 480,1841,1977 no intron,intron C11orf9 NM_001127392.1,NM_013279.2 , 514,2179,3804 AA,AG,GG 32.5849,9.2315,24.6806 , , 61549025 3207,9787 2199 4298 6497 SO:0001627 intron_variant CCDS31579.1, CCDS44622.1 11q12-q13.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000124920 ENSG00000124920 745 1181 protein-coding gene gene with protein product myelin gene regulatory factor 608329 chromosome 11 open reading frame 9 C11orf9 NA 10828591, 12384578 Standard NM_013279 NM_001127392 NA Approved Ndt80, pqn-47, MRF uc001nsc.1 Q9Y2G1 OTTHUMG00000168161 ENST00000278836.5:c.2765-20G>A chr11.hg19:g.61549025G>A NA O43582|Q9P1Q6 hg19 CCDS44622.1 0.02 6.11466 CCTxTGC COVERED NOVEL MYRF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398519.2 2 12.37395 KEEP 0 1 25 50 1781 GG 1 1 0 + 15 60 541 0 0 38.544031 173 60 6523 285 ENST00000278836.5 0.079787 1 MYRF 745 __UNKNOWN__ __UNKNOWN__ 11 61551356 61551356 __UNKNOWN__ Silent SNP T T C rs174535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61551356T>C ENST00000278836.5 + 24 3249 c.3153T>C c.(3151-3153)agT>agC p.S1051S TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.S1011S|MYRF_ENST00000389602.4_Silent_p.S437S NM_001127392.1 NP_001120864.1 Q9Y2G1 MRF_HUMAN myelin regulatory factor 1051 NA central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA TCCCTGTCAGTAGTGGCACCC 0.637 NA C||| 1703 0.340056 0.1467 0.6037 5008 , , NA 18016 0.5694 NA 0.3549 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C , 894,3510 726.5+/-409.7 107,680,1415 53 39 44 http://www.ncbi.nlm.nih.gov/pubmed?term 3153,3033 1.3 0.9 11 dbSNP_79 44 2860,5738 657.4+/-401.5 498,1864,1937 no coding-synonymous,coding-synonymous C11orf9 NM_001127392.1,NM_013279.2 , 605,2544,3352 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 33.2635,20.2997,28.8725 , 1051/1152,1011/1112 61551356 3754,9248 2202 4299 6501 SO:0001819 synonymous_variant CCDS31579.1, CCDS44622.1 11q12-q13.1 2012-12-19 2012-12-19 2012-12-19 ENSG00000124920 ENSG00000124920 745 1181 protein-coding gene gene with protein product myelin gene regulatory factor 608329 chromosome 11 open reading frame 9 C11orf9 NA 10828591, 12384578 Standard NM_013279 NM_001127392 NA Approved Ndt80, pqn-47, MRF uc001nsc.1 Q9Y2G1 OTTHUMG00000168161 ENST00000278836.5:c.3153T>C chr11.hg19:g.61551356T>C NA O43582|Q9P1Q6 hg19 CCDS44622.1 0.02 2.290915 CAGxAGT COVERED NOVEL MYRF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398519.2 1 6.017114 KEEP 0 0 0 20 593 TT 0.999863 0.99555 0 + 6 60 231 0 0 17.150671 62 60 2155 109 ENST00000278836.5 0.088235 0.995687 TMEM258 746 __UNKNOWN__ __UNKNOWN__ 11 61560081 61560081 __UNKNOWN__ 5'UTR SNP G G A rs174538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61560081G>A ENST00000543510.1 - 0 193 TMEM258_ENST00000537328.1_5'UTR P61165 TM258_HUMAN transmembrane protein 258 NA NA integral component of membrane (GO:0016021) NA GAACACGTCGGCAGGAGCAGG 0.622 NA G||| 1413 0.282149 0.0204 0.572 5008 , , NA 19410 0.5556 NA 0.3131 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G 358,4046 181.5+/-209.5 26,306,1870 36 40 38 http://www.ncbi.nlm.nih.gov/pubmed?term 1.7 0.8 11 dbSNP_79 38 2546,6052 412.5+/-350.8 389,1768,2142 no utr-5 C11orf10 NM_014206.3 415,2074,4012 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 29.6115,8.129,22.335 61560081 2904,10098 2202 4299 6501 SO:0001623 5_prime_UTR_variant CCDS8009.1 11q12.2 2012-12-03 2012-12-03 2012-12-03 ENSG00000134825 ENSG00000134825 746 1164 protein-coding gene gene with protein product chromosome 11 open reading frame 10 C11orf10 NA 12427278 Standard NM_014206 NM_014206 NA Approved uc001nsf.3 P61165 OTTHUMG00000168172 ENST00000543510.1:c.-1159C>T chr11.hg19:g.61560081G>A NA A8K6L8|Q9D953|Q9Y2Q7 hg19 0.02 21.295708 TCGxCAG COVERED NOVEL TMEM258-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398576.1 3 74.876663 KEEP 0 1 29 259 9326 GG 1 1 0 - 36 60 1276 0 0 87.53932 498 60 18670 975 ENST00000543510.1 0.067416 1 FEN1 2237 __UNKNOWN__ __UNKNOWN__ 11 61564299 61564299 __UNKNOWN__ 3'UTR SNP G G T rs4246215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61564299G>T ENST00000305885.2 + 0 1879 FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 flap structure-specific endonuclease 1 NA NA endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 AAAAGGGGGAGACAAAAGATG 0.453 NA Editing and processing nucleases G||| 1518 0.303115 0.0219 0.5908 5008 , , NA 20281 0.5655 NA 0.3698 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L37374 CCDS8010.1 11q12 2013-05-08 ENSG00000168496 ENSG00000168496 2237 3650 protein-coding gene gene with protein product maturation factor-1, DNase IV 600393 RAD2 NA 7774922 Standard NM_004111 NM_004111 NA Approved FEN-1, MF1 uc001nsg.3 P39748 OTTHUMG00000168162 ENST00000305885.2:c.*323G>T chr11.hg19:g.61564299G>T NA hg19 CCDS8010.1 0.02 26.356812 GGAxACA COVERED NOVEL FEN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398526.1 7 50.542691 KEEP 0 3 94 201 7134 GG 1 1 0 + 37 60 1266 0 0 84.131603 567 60 21419 973 ENST00000305885.2 0.061258 1 FADS1 3992 __UNKNOWN__ __UNKNOWN__ 11 61569830 61569830 __UNKNOWN__ 3'UTR SNP C C T rs174546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61569830C>T ENST00000350997.7 - 0 1791 FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_3'UTR|FADS1_ENST00000536991.1_3'UTR|FADS1_ENST00000460649.1_3'UTR|FADS1_ENST00000542506.1_3'UTR NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCCCCTCTGCCTTGGCTCCAG 0.512 NA T||| 1490 0.297524 0.0219 0.5865 5008 , , NA 19206 0.5665 NA 0.3469 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 T 113,1271 10,93,589 50 40 43 http://www.ncbi.nlm.nih.gov/pubmed?term 2 0.1 11 dbSNP_79 43 1078,2104 199,680,712 yes utr-3 FADS1 NM_013402.4 209,773,1301 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 33.8781,8.1647,26.0841 61569830 1191,3375 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS8011.2 11q12-q13.1 2013-01-25 ENSG00000149485 ENSG00000149485 3992 1.14.19.3 Fatty acid desaturases 3574 protein-coding gene gene with protein product delta-5 desaturase 606148 LLCDL1 NA Standard NM_013402 NM_013402 NA Approved D5D, FADSD5, TU12, FADS6 uc010rlm.2 O60427 OTTHUMG00000157155 ENST00000350997.7:c.*53G>A chr11.hg19:g.61569830C>T NA A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1 hg19 CCDS8011.2 0.02 24.360158 TGCxTTG COVERED NOVEL FADS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347648.2 0 18.601753 KEEP 0 4 129 107 3866 CC 1 1 0 - 36 60 1343 0 0 94.478698 490 60 18687 814 ENST00000350997.7 0.068441 1 FADS1 3992 __UNKNOWN__ __UNKNOWN__ 11 61570783 61570783 __UNKNOWN__ Intron SNP T T C rs174547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61570783T>C ENST00000350997.7 - 9 1481 FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Intron|FADS1_ENST00000536991.1_Intron|FADS1_ENST00000460649.1_Intron|FADS1_ENST00000542506.1_Intron NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CACCTACGCATCCTTTTCAAT 0.463 NA C||| 1492 0.297923 0.0227 0.5879 5008 , , NA 22147 0.5665 NA 0.3469 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C 280,2854 25,230,1312 119 106 110 http://www.ncbi.nlm.nih.gov/pubmed?term -1.4 0 11 dbSNP_79 110 2330,4832 397,1536,1648 yes intron FADS1 NM_013402.4 422,1766,2960 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 32.5328,8.9343,25.3497 61570783 2610,7686 1567 3581 5148 SO:0001627 intron_variant CCDS8011.2 11q12-q13.1 2013-01-25 ENSG00000149485 ENSG00000149485 3992 1.14.19.3 Fatty acid desaturases 3574 protein-coding gene gene with protein product delta-5 desaturase 606148 LLCDL1 NA Standard NM_013402 NM_013402 NA Approved D5D, FADSD5, TU12, FADS6 uc010rlm.2 O60427 OTTHUMG00000157155 ENST00000350997.7:c.1248+51A>G chr11.hg19:g.61570783T>C NA A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1 hg19 CCDS8011.2 0.02 18.278374 GCAxCCT COVERED NOVEL FADS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347648.2 2 23.979024 KEEP 0 3 107 117 3756 TT 1 1 0 - 29 60 1065 0 0 74.755451 384 60 14133 666 ENST00000350997.7 0.070218 1 FADS1 3992 __UNKNOWN__ __UNKNOWN__ 11 61571382 61571382 __UNKNOWN__ Intron SNP G G A rs174549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61571382G>A ENST00000350997.7 - 8 1286 FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Intron|FADS1_ENST00000536991.1_Intron|FADS1_ENST00000460649.1_5'UTR|FADS1_ENST00000542506.1_Intron NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CAATCCTGCAGTATCTAGTGC 0.517 NA A||| 1404 0.280351 0.0204 0.5692 5008 , , NA 20206 0.5476 NA 0.3042 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8011.2 11q12-q13.1 2013-01-25 ENSG00000149485 ENSG00000149485 3992 1.14.19.3 Fatty acid desaturases 3574 protein-coding gene gene with protein product delta-5 desaturase 606148 LLCDL1 NA Standard NM_013402 NM_013402 NA Approved D5D, FADSD5, TU12, FADS6 uc010rlm.2 O60427 OTTHUMG00000157155 ENST00000350997.7:c.1054-143C>T chr11.hg19:g.61571382G>A NA A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1 hg19 CCDS8011.2 0.02 13.017144 GCAxTAT COVERED NOVEL FADS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347648.2 3 12.940797 KEEP 0 0 0 43 1464 GG 1 1 0 - 14 60 499 0 0 31.846965 295 60 10835 358 ENST00000350997.7 0.045307 1 FADS1 3992 __UNKNOWN__ __UNKNOWN__ 11 61571478 61571478 __UNKNOWN__ Intron SNP T T C rs174550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61571478T>C ENST00000350997.7 - 8 1286 FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Intron|FADS1_ENST00000536991.1_Intron|FADS1_ENST00000460649.1_5'UTR|FADS1_ENST00000542506.1_Intron NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACAAGGTCTCTTTGCCTCTAG 0.517 NA C||| 1491 0.297724 0.0219 0.5879 5008 , , NA 20531 0.5665 NA 0.3469 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8011.2 11q12-q13.1 2013-01-25 ENSG00000149485 ENSG00000149485 3992 1.14.19.3 Fatty acid desaturases 3574 protein-coding gene gene with protein product delta-5 desaturase 606148 LLCDL1 NA Standard NM_013402 NM_013402 NA Approved D5D, FADSD5, TU12, FADS6 uc010rlm.2 O60427 OTTHUMG00000157155 ENST00000350997.7:c.1054-239A>G chr11.hg19:g.61571478T>C NA A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1 hg19 CCDS8011.2 0.02 13.878284 CTCxTTG COVERED NOVEL FADS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347648.2 2 11.066927 KEEP 0 1 35 49 1516 TT 1 1 0 - 20 60 734 0 0 50.986062 282 60 10246 397 ENST00000350997.7 0.066225 1 FADS1 3992 __UNKNOWN__ __UNKNOWN__ 11 61580635 61580635 __UNKNOWN__ Intron SNP C C T rs174556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61580635C>T ENST00000350997.7 - 2 719 FADS2_ENST00000574708.1_Intron|FADS1_ENST00000433932.1_Intron|FADS1_ENST00000542506.1_Intron NM_013402.4 NP_037534.3 O60427 FADS1_HUMAN fatty acid desaturase 1 NA NA alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739) C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGACTGTGATCCCATCTAGAC 0.512 NA C||| 1400 0.279553 0.0197 0.5677 5008 , , NA 20941 0.5466 NA 0.3032 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8011.2 11q12-q13.1 2013-01-25 ENSG00000149485 ENSG00000149485 3992 1.14.19.3 Fatty acid desaturases 3574 protein-coding gene gene with protein product delta-5 desaturase 606148 LLCDL1 NA Standard NM_013402 NM_013402 NA Approved D5D, FADSD5, TU12, FADS6 uc010rlm.2 O60427 OTTHUMG00000157155 ENST00000350997.7:c.486+79G>A chr11.hg19:g.61580635C>T NA A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1 hg19 CCDS8011.2 0.02 5.927749 GATxCCA COVERED NOVEL FADS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347648.2 0 14.607848 KEEP 0 2 61 70 2420 CC 1 1 0 - 6 60 217 0 0 12.893228 192 60 7178 345 ENST00000350997.7 0.030303 1 FADS2 9415 __UNKNOWN__ __UNKNOWN__ 11 61593816 61593816 __UNKNOWN__ Intron SNP C C T rs174568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61593816C>T ENST00000522056.1 + 1 293 FADS2_ENST00000257261.6_Intron|FADS2_ENST00000574708.1_Silent_p.H38H|FADS2_ENST00000522639.1_Silent_p.H38H|FADS2_ENST00000517839.1_3'UTR O95864 FADS2_HUMAN fatty acid desaturase 2 NA NA alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) GGCCGGTCCACGCTTCTCAGC 0.552 NA C||| 1483 0.296126 0.0212 0.5836 5008 , , NA 14637 0.5665 NA 0.3459 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF084559 CCDS8012.1, CCDS60807.1, CCDS60808.1 11q12.2 2013-01-25 ENSG00000134824 ENSG00000134824 9415 1.14.19.3 Fatty acid desaturases 3575 protein-coding gene gene with protein product delta-6-desaturase 606149 LLCDL2 NA Standard NM_004265 NM_004265 NA Approved FADSD6, D6D, TU13, DES6, SLL0262 uc001nsl.1 O95864 OTTHUMG00000163794 ENST00000522056.1:c.114+9648C>T chr11.hg19:g.61593816C>T NA A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4 hg19 0.02 13.339169 CCAxGCT COVERED NOVEL FADS2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375583.1 1 22.323999 KEEP 0 2 62 96 3298 CC 1 1 0 + 15 60 545 0 0 35.421958 303 60 10594 524 ENST00000522056.1 0.04717 1 FADS2 9415 __UNKNOWN__ __UNKNOWN__ 11 61615803 61615803 __UNKNOWN__ Intron SNP C C G rs174589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61615803C>G ENST00000522056.1 + 5 830 FADS2_ENST00000257261.6_Intron|FADS2_ENST00000521849.1_Intron|FADS2_ENST00000278840.4_Intron O95864 FADS2_HUMAN fatty acid desaturase 2 NA NA alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) TTGTCCTGGGCGAATGGCAGA 0.542 NA C||| 673 0.134385 0.0174 0.3199 5008 , , NA 22725 0.1468 NA 0.1968 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 C 229,4175 135.7+/-171.8 10,209,1983 154 128 137 -0.9 0 11 dbSNP_79 137 1703,6895 313.1+/-311.2 182,1339,2778 no intron FADS2 NM_004265.2 192,1548,4761 GG,GC,CC 19.8069,5.1998,14.8593 61615803 1932,11070 2202 4299 6501 SO:0001627 intron_variant AF084559 CCDS8012.1, CCDS60807.1, CCDS60808.1 11q12.2 2013-01-25 ENSG00000134824 ENSG00000134824 9415 1.14.19.3 Fatty acid desaturases 3575 protein-coding gene gene with protein product delta-6-desaturase 606149 LLCDL2 NA Standard NM_004265 NM_004265 NA Approved FADSD6, D6D, TU13, DES6, SLL0262 uc001nsl.1 O95864 OTTHUMG00000163794 ENST00000522056.1:c.651+47C>G chr11.hg19:g.61615803C>G NA A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4 hg19 0.02 6.006047 GGGxGAA COVERED NOVEL FADS2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375583.1 0 5.115629 KEEP 0 0 0 17 550 CC 0.999366 0.999366 0 + 14 60 466 1 0 32.96271 141 60 4524 185 ENST00000522056.1 0.090323 1 FADS2 9415 __UNKNOWN__ __UNKNOWN__ 11 61631510 61631510 __UNKNOWN__ Intron SNP A A T rs3168072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61631510A>T ENST00000522056.1 + 10 1243 FADS2_ENST00000257261.6_Intron|FADS2_ENST00000521849.1_3'UTR|FADS2_ENST00000278840.4_Intron O95864 FADS2_HUMAN fatty acid desaturase 2 NA NA alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559) endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768) breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 Alpha-Linolenic Acid(DB00132) ACCTCCCTCCATGTGGGCCTG 0.597 NA A||| 617 0.123203 0.0098 0.3732 5008 , , NA 15383 0.247 NA 0.0328 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF084559 CCDS8012.1, CCDS60807.1, CCDS60808.1 11q12.2 2013-01-25 ENSG00000134824 ENSG00000134824 9415 1.14.19.3 Fatty acid desaturases 3575 protein-coding gene gene with protein product delta-6-desaturase 606149 LLCDL2 NA Standard NM_004265 NM_004265 NA Approved FADSD6, D6D, TU13, DES6, SLL0262 uc001nsl.1 O95864 OTTHUMG00000163794 ENST00000522056.1:c.1064+252A>T chr11.hg19:g.61631510A>T NA A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4 hg19 0.02 6.540218 TCCxTGT COVERED NOVEL FADS2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000375583.1 0 10.833232 KEEP 0 0 0 36 1145 AA 0.999999 0.999999 0 + 6 60 230 0 0 14.369457 179 60 6537 286 ENST00000522056.1 0.032432 1 RAB3IL1 5866 __UNKNOWN__ __UNKNOWN__ 11 61665122 61665122 __UNKNOWN__ 3'UTR SNP A A G rs2235093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61665122A>G ENST00000394836.2 - 0 1934 RAB3IL1_ENST00000301773.5_3'UTR NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031) Rab guanyl-nucleotide exchange factor activity (GO:0017112) central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 GGAGGCCTTTATGAAGGggga 0.607 NA OREG0021017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 3120 0.623003 0.4365 0.6427 5008 , , NA 12977 0.8562 NA 0.5169 False NA ,,, NA NA NA 2504 0.7301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF084557 CCDS8014.1, CCDS60809.1 11q12.2 2008-02-01 ENSG00000167994 ENSG00000167994 5866 9780 protein-coding gene gene with protein product NA Standard NM_013401 NM_013401 NA Approved uc001nso.4 Q8TBN0 OTTHUMG00000167524 ENST00000394836.2:c.*628T>C chr11.hg19:g.61665122A>G 1055 Q86V32|Q9P1Q8 hg19 CCDS8014.1 0.02 1.825249 TTTxTGA COVERED NOVEL RAB3IL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394917.1 2 12.324968 KEEP 0 0 0 41 1194 AA 1 0.999726 0 - 4 60 135 0 0 8.371778 83 60 2751 160 ENST00000394836.2 0.045977 0.999726 RAB3IL1 5866 __UNKNOWN__ __UNKNOWN__ 11 61687454 61687454 __UNKNOWN__ Intron SNP G G A rs11230827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61687454G>A ENST00000301773.5 - 1 229 NM_001271686.1 NP_001258615.1 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 NA NA positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031) Rab guanyl-nucleotide exchange factor activity (GO:0017112) central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 TCTCACACTGGCTGCCCTGAA 0.577 NA G||| 961 0.191893 0.2277 0.111 5008 , , NA 19578 0.1637 NA 0.0298 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF084557 CCDS8014.1, CCDS60809.1 11q12.2 2008-02-01 ENSG00000167994 ENSG00000167994 5866 9780 protein-coding gene gene with protein product NA Standard NM_013401 NM_013401 NA Approved uc001nso.4 Q8TBN0 OTTHUMG00000167524 ENST00000301773.5:c.152+58C>T chr11.hg19:g.61687454G>A NA Q86V32|Q9P1Q8 hg19 0.02 3.851153 CTGxCTG COVERED NOVEL RAB3IL1-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000394918.1 1 24.377701 KEEP 0 0 0 81 2794 GG 1 1 0 - 5 60 179 0 0 10.928303 135 60 4786 266 ENST00000301773.5 0.035714 1 BEST1 7439 __UNKNOWN__ __UNKNOWN__ 11 61722645 61722645 __UNKNOWN__ 5'UTR SNP C C A rs1109748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61722645C>A ENST00000534553.1 + 0 432 BEST1_ENST00000378042.3_Silent_p.I13I|BEST1_ENST00000301774.9_5'UTR|BEST1_ENST00000526988.1_5'UTR|BEST1_ENST00000449131.2_Silent_p.I13I|BEST1_ENST00000435278.2_Silent_p.I73I|BEST1_ENST00000378043.4_Silent_p.I73I O76090 BEST1_HUMAN bestrophin 1 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601) basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 ACAGCTACATCCAGCTCATCC 0.602 NA C||| 1590 0.317492 0.0825 0.2839 5008 , , NA 13980 0.6498 NA 0.0726 False NA ,,, NA NA NA 2504 0.5685 NA NA NA NA 0 C , 366,4038 187.1+/-213.8 19,328,1855 187 155 166 http://www.ncbi.nlm.nih.gov/pubmed?term 39,219 3.9 1 11 dbSNP_86 166 629,7969 162.0+/-214.8 30,569,3700 no coding-synonymous,coding-synonymous BEST1 NM_001139443.1,NM_004183.3 , 49,897,5555 AA,AC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 7.3157,8.3106,7.6527 , 13/605,73/586 61722645 995,12007 2202 4299 6501 SO:0001623 5_prime_UTR_variant AF057170 CCDS31580.1, CCDS44623.1 11q12 2013-02-14 2006-10-18 2006-10-18 ENSG00000167995 ENSG00000167995 7439 Ion channels / Chloride channels : Calcium activated : Bestrophins 12703 protein-coding gene gene with protein product Best disease 607854 vitelliform macular dystrophy 2 VMD2 NA 1302019, 17003041 Standard NM_004183 NM_004183 NA Approved BMD, BEST, RP50 uc001nsr.2 O76090 OTTHUMG00000167469 ENST00000534553.1:c.-145C>A chr11.hg19:g.61722645C>A NA A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80 hg19 0.02 20.700503 CATxCAG COVERED NOVEL BEST1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394716.2 2 58.088617 KEEP 0 0 0 193 6799 CC 1 1 0 + 22 60 797 0 0 50.818418 489 60 18116 906 ENST00000534553.1 0.043053 1 BEST1 7439 __UNKNOWN__ __UNKNOWN__ 11 61724292 61724292 __UNKNOWN__ Intron SNP C C T rs760306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61724292C>T ENST00000534553.1 + 4 739 BEST1_ENST00000378042.3_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Intron|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000435278.2_Intron|BEST1_ENST00000378043.4_Intron O76090 BEST1_HUMAN bestrophin 1 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601) basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 TCCCACCCACCGCCTTCTTCA 0.522 NA C||| 2819 0.562899 0.556 0.4193 5008 , , NA 18343 0.8631 NA 0.2376 False NA ,,, NA NA NA 2504 0.6994 NA NA NA NA 0 C , 2274,2130 598.6+/-389.1 563,1148,491 179 195 189 http://www.ncbi.nlm.nih.gov/sites/varvu?gene , 0.6 0 11 dbSNP_86 189 2140,6458 366.5+/-334.3 277,1586,2436 no intron,intron BEST1 NM_001139443.1,NM_004183.3 , 840,2734,2927 TT,TC,CC 24.8895,48.3651,33.9486 , , 61724292 4414,8588 2202 4299 6501 SO:0001627 intron_variant AF057170 CCDS31580.1, CCDS44623.1 11q12 2013-02-14 2006-10-18 2006-10-18 ENSG00000167995 ENSG00000167995 7439 Ion channels / Chloride channels : Calcium activated : Bestrophins 12703 protein-coding gene gene with protein product Best disease 607854 vitelliform macular dystrophy 2 VMD2 NA 1302019, 17003041 Standard NM_004183 NM_004183 NA Approved BMD, BEST, RP50 uc001nsr.2 O76090 OTTHUMG00000167469 ENST00000534553.1:c.163+869C>T chr11.hg19:g.61724292C>T NA A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80 hg19 0.02 18.268135 CACxGCC COVERED NOVEL BEST1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394716.2 1 33.309568 KEEP 0 3 89 142 4866 CC 1 1 0 + 13 60 489 0 0 30.176442 390 60 13975 701 ENST00000534553.1 0.032258 1 BEST1 7439 __UNKNOWN__ __UNKNOWN__ 11 61730234 61730234 __UNKNOWN__ 3'UTR SNP T T C rs1800009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61730234T>C ENST00000534553.1 + 0 1247 BEST1_ENST00000378042.3_Silent_p.T449T|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000301774.9_Silent_p.T164T|BEST1_ENST00000449131.2_Silent_p.T476T|BEST1_ENST00000378043.4_Silent_p.T536T O76090 BEST1_HUMAN bestrophin 1 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601) basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2) 25 GGAGGAAAACTGTGGAGTTTA 0.463 NA C||| 2962 0.591454 0.5348 0.4899 5008 , , NA 21553 0.8552 NA 0.3539 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA 0 C , 2166,2238 593.3+/-388.0 530,1106,566 109 111 110 1428,1608 -4.6 0.8 11 dbSNP_89 110 3026,5572 663.5+/-402.1 553,1920,1826 no coding-synonymous,coding-synonymous BEST1 NM_001139443.1,NM_004183.3 , 1083,3026,2392 CC,CT,TT 35.1942,49.1826,39.9323 , 476/605,536/586 61730234 5192,7810 2202 4299 6501 SO:0001624 3_prime_UTR_variant AF057170 CCDS31580.1, CCDS44623.1 11q12 2013-02-14 2006-10-18 2006-10-18 ENSG00000167995 ENSG00000167995 7439 Ion channels / Chloride channels : Calcium activated : Bestrophins 12703 protein-coding gene gene with protein product Best disease 607854 vitelliform macular dystrophy 2 VMD2 NA 1302019, 17003041 Standard NM_004183 NM_004183 NA Approved BMD, BEST, RP50 uc001nsr.2 O76090 OTTHUMG00000167469 ENST00000534553.1:c.*503T>C chr11.hg19:g.61730234T>C NA A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80 hg19 0.02 37.580387 AACxGTG COVERED NOVEL BEST1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394716.2 5 69.655832 KEEP 0 2 67 255 7963 TT 1 1 0 + 54 60 1857 0 0 123.84212 813 60 30266 1359 ENST00000534553.1 0.062284 1 FTH1 2495 __UNKNOWN__ __UNKNOWN__ 11 61732447 61732447 __UNKNOWN__ Intron SNP T T C rs201120647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61732447T>C ENST00000532601.1 - 3 451 FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Intron|FTH1_ENST00000273550.7_Intron|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 NA NA cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506) NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TTCCTGGGGTTCCAATACTCA 0.428 NA T||| 9 0.00179712 0.0 0.0 5008 , , NA 20503 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 225 210 214 NA NA 11 NA 61732447 1872 4107 5979 SO:0001627 intron_variant CCDS41655.1 11q13 2012-10-02 ENSG00000167996 ENSG00000167996 2495 3976 protein-coding gene gene with protein product apoferritin, placenta immunoregulatory factor, proliferation-inducing protein 15 134770 FTHL6 NA 3020541 Standard NM_002032 NM_002032 NA Approved FTH, PLIF, PIG15, FHC uc001nsu.3 P02794 ENST00000532601.1:c.177+11A>G chr11.hg19:g.61732447T>C NA B3KNR5|Q3KRA8|Q3SWW1 hg19 0.02 24.645718 GGTxCCA COVERED NOVEL FTH1-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388526.1 3 49.951771 KEEP 0 0 0 166 5390 TT 1 1 0 - 23 60 824 0 0 51.7796 537 60 19327 906 ENST00000532601.1 0.041071 1 INCENP 3619 __UNKNOWN__ __UNKNOWN__ 11 61895541 61895541 __UNKNOWN__ Intron SNP A A G rs1675130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61895541A>G ENST00000394818.3 + 2 191 INCENP_ENST00000278849.4_Intron NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa NA NA chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819) breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GTTGTGGGTCAGGTGGGTATT 0.602 NA G||| 1914 0.382188 0.4425 0.3862 5008 , , NA 14059 0.131 NA 0.6909 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF282265 CCDS31582.1, CCDS44624.1 11q12.3 2013-01-17 2002-08-29 ENSG00000149503 ENSG00000149503 3619 6058 protein-coding gene gene with protein product 604411 inner centromere protein antigens (135kD, 155kD) NA 1860899, 11453556 Standard NM_020238 NM_001040694 NA Approved FLJ31633 uc001nsw.1 Q9NQS7 OTTHUMG00000167470 ENST00000394818.3:c.-11-82A>G chr11.hg19:g.61895541A>G NA A8MQD2|Q5Y192 hg19 CCDS44624.1 0.02 5.421128 GTCxGGT COVERED NOVEL INCENP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000394723.2 0 2.263606 KEEP 0 2 70 32 958 AA 0.999998 0.999998 0 + 7 60 220 0 0 12.799219 157 60 5523 243 ENST00000394818.3 0.042683 1 INCENP 3619 __UNKNOWN__ __UNKNOWN__ 11 61897254 61897254 __UNKNOWN__ Splice_Site SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61897254G>C ENST00000394818.3 + 4 457 c.255G>C c.(253-255)agG>agC p.R85S INCENP_ENST00000278849.4_Splice_Site_p.R85S NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 85 NA chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819) breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CCCCTGCCAGGTTATCCCGCA 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 21 22 22 NA NA 11 NA 61897254 2202 4299 6501 SO:0001630 splice_region_variant AF282265 CCDS31582.1, CCDS44624.1 11q12.3 2013-01-17 2002-08-29 ENSG00000149503 ENSG00000149503 3619 6058 protein-coding gene gene with protein product 604411 inner centromere protein antigens (135kD, 155kD) NA 1860899, 11453556 Standard NM_020238 NM_001040694 NA Approved FLJ31633 uc001nsw.1 Q9NQS7 OTTHUMG00000167470 ENST00000394818.3:c.255-1G>C chr11.hg19:g.61897254G>C NA A8MQD2|Q5Y192 hg19 CCDS44624.1 0.02 4.356047 CAGxTTA COVERED . . . . . . . . . . G 14.86 2.662734 0.47572 . . ENSG00000149503 ENST00000394818;ENST00000533896;ENST00000278849 T;T;T 0.33438 1.93;1.41;1.89 5.05 3.19 0.36642 . 0.000000 0.64402 D 0.000011 T 0.49218 0.1544 M 0.71581 2.175 0.44668 D 0.997652 D;D;D 0.76494 0.999;0.999;0.998 D;D;D 0.83275 0.994;0.996;0.991 T 0.39921 -0.9590 9 . . . . 7.7722 0.29015 0.1921:0.0:0.8079:0.0 . 85;85;85 B3KPD3;Q9NQS7-2;Q9NQS7 .;.;INCE_HUMAN S 85 ENSP00000378295:R85S;ENSP00000433100:R85S;ENSP00000278849:R85S . R + 3 2 INCENP 61653830 1.000000 0.71417 0.971000 0.41717 0.953000 0.61014 2.091000 0.41691 0.549000 0.28973 -0.258000 0.10820 AGG NOVEL INCENP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000394723.2 1 14.746442 KEEP 0 0 0 49 1687 GG 1 1 0 Missense_Mutation + 5 60 187 0 0 11.737422 134 60 4901 223 ENST00000394818.3 0.035971 1 INCENP 3619 __UNKNOWN__ __UNKNOWN__ 11 61897359 61897359 __UNKNOWN__ Silent SNP C C T rs1675133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:61897359C>T ENST00000394818.3 + 4 562 c.360C>T c.(358-360)gtC>gtT p.V120V INCENP_ENST00000278849.4_Silent_p.V120V NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 120 NA chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067) central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819) breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 ACGGCTCCGTCCTGCGGCGTG 0.647 NA C||| 1731 0.345647 0.32 0.379 5008 , , NA 15888 0.1181 NA 0.6859 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 C , 1583,2819 474.8+/-357.1 304,975,922 49 51 50 360,360 2.2 0.1 11 dbSNP_89 50 5875,2723 660.2+/-401.7 2026,1823,450 no coding-synonymous,coding-synonymous INCENP NM_001040694.1,NM_020238.2 , 2330,2798,1372 TT,TC,CC 31.6702,35.9609,42.6308 , 120/919,120/915 61897359 7458,5542 2201 4299 6500 SO:0001819 synonymous_variant AF282265 CCDS31582.1, CCDS44624.1 11q12.3 2013-01-17 2002-08-29 ENSG00000149503 ENSG00000149503 3619 6058 protein-coding gene gene with protein product 604411 inner centromere protein antigens (135kD, 155kD) NA 1860899, 11453556 Standard NM_020238 NM_001040694 NA Approved FLJ31633 uc001nsw.1 Q9NQS7 OTTHUMG00000167470 ENST00000394818.3:c.360C>T chr11.hg19:g.61897359C>T NA A8MQD2|Q5Y192 hg19 CCDS44624.1 0.02 14.24318 CGTxCTG COVERED NOVEL INCENP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000394723.2 6 38.560288 KEEP 0 4 113 168 5907 CC 1 1 0 + 11 60 382 0 0 22.104287 349 70 12649 712 ENST00000394818.3 0.030556 1 SCGB1D2 10647 __UNKNOWN__ __UNKNOWN__ 11 62010863 62010863 __UNKNOWN__ Missense_Mutation SNP C C T rs2232950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62010863C>T ENST00000244926.3 + 2 256 c.158C>T c.(157-159)cCg>cTg p.P53L RP11-703H8.9_ENST00000529875.1_RNA NM_006551.3 NP_006542.1 O95969 SG1D2_HUMAN secretoglobin, family 1D, member 2 53 NA P -> L (in dbSNP:rs2232950). extracellular space (GO:0005615) breast(1)|endometrium(1)|lung(1) 3 GATGCCCCTCCGGAAGCTGTT 0.473 NA C||| 2359 0.471046 0.2322 0.4251 5008 , , NA 20799 0.7927 NA 0.337 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NA 0 C LEU/PRO 1039,3365 382.1+/-324.3 123,793,1286 136 126 130 158 -4.9 0 11 dbSNP_98 130 2813,5785 445.9+/-361.1 449,1915,1935 yes missense SCGB1D2 NM_006551.3 98 572,2708,3221 TT,TC,CC 32.7169,23.5922,29.6262 possibly-damaging 53/91 62010863 3852,9150 2202 4299 6501 SO:0001583 missense AJ224172 CCDS8017.1 11q13 2011-12-14 ENSG00000124935 ENSG00000124935 10647 Secretoglobins 18396 protein-coding gene gene with protein product prostatein-like lipophilin B, lipophilin B (uteroglobin family member), prostatein-like 615061 NA 10066439, 9720917, 22155607 Standard NM_006551 XM_006718422 NA Approved LPHB, LIPB uc001ntb.3 O95969 OTTHUMG00000167508 ENST00000244926.3:c.158C>T chr11.hg19:g.62010863C>T ENSP00000244926:p.Pro53Leu NA Q2M3N9 hg19 CCDS8017.1 0.02 9.085795 CTCxGGA COVERED 1008 0.46153846153846156 129 0.2621951219512195 161 0.4447513812154696 458 0.8006993006993007 260 0.34300791556728233 C 7.537 0.659889 0.14645 0.235922 0.327169 ENSG00000124935 ENST00000244926 T 0.16073 2.37 2.44 -4.87 0.03123 . 3.173700 0.01291 N 0.010028 T 0.00012 0.0000 . . . 0.80722 P 0.0 P 0.47545 0.897 B 0.39465 0.3 T 0.42599 -0.9442 8 0.27785 T 0.31 . 5.5062 0.16856 0.66:0.2146:0.0:0.1254 rs2232950;rs3855295;rs17542874;rs58183460;rs2232950 53 O95969 SG1D2_HUMAN L 53 ENSP00000244926:P53L ENSP00000244926:P53L P + 2 0 SCGB1D2 61767439 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -6.574000 0.00061 -1.209000 0.02631 0.313000 0.20887 CCG NOVEL SCGB1D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394859.1 0 5.152499 KEEP 0 1 34 29 1019 CC 0.999997 0.999997 0 + 13 60 492 0 0 33.8574 211 60 7259 309 ENST00000244926.3 0.058036 1 INTS5 80789 __UNKNOWN__ __UNKNOWN__ 11 62415907 62415907 __UNKNOWN__ Missense_Mutation SNP G G A rs186820568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62415907G>A ENST00000330574.2 - 2 1697 c.1645C>T c.(1645-1647)Ctc>Ttc p.L549F NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 549 NA snRNA processing (GO:0016180) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020) breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 AGGGGCAGGAGGCCAGAGAGG 0.612 NA G||| 17 0.00339457 0.0 0.0 5008 , , NA 19987 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G PHE/LEU 1,4403 2.1+/-5.4 0,1,2201 61 58 59 1645 4.3 1 11 59 0,8598 0,0,4299 yes missense INTS5 NM_030628.1 22 0,1,6500 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging 549/1020 62415907 1,13001 2202 4299 6501 SO:0001583 missense AK123587 CCDS8027.1 11q12.3 2006-04-26 2006-03-15 2006-03-15 ENSG00000185085 ENSG00000185085 80789 29352 protein-coding gene gene with protein product 611349 KIAA1698 KIAA1698 NA 16239144 Standard NM_030628 NM_030628 NA Approved INT5 uc001nud.3 Q6P9B9 OTTHUMG00000167605 ENST00000330574.2:c.1645C>T chr11.hg19:g.62415907G>A ENSP00000327889:p.Leu549Phe NA Q8N6W5|Q9C0G5 hg19 CCDS8027.1 0.02 8.0295 GGAxGCC COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 15.14 2.745801 0.49151 2.27E-4 0.0 ENSG00000185085 ENST00000330574 . . . 5.28 4.29 0.51040 . 0.000000 0.64402 D 0.000001 T 0.49167 0.1541 N 0.24115 0.695 0.34555 D 0.711786 D 0.76494 0.999 D 0.80764 0.994 T 0.56649 -0.7944 9 0.42905 T 0.14 . 7.9687 0.30115 0.1111:0.0:0.8889:0.0 . 549 Q6P9B9 INT5_HUMAN F 549 . ENSP00000327889:L549F L - 1 0 INTS5 62172483 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 4.375000 0.59549 2.755000 0.94549 0.655000 0.94253 CTC NOVEL INTS5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395327.1 1 30.397576 KEEP 0 0 0 101 3510 GG 1 1 0 - 10 60 367 0 0 23.388173 232 60 8490 422 ENST00000330574.2 0.041322 1 HNRNPUL2 221092 __UNKNOWN__ __UNKNOWN__ 11 62490219 62490219 __UNKNOWN__ Intron SNP G G A rs576251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62490219G>A ENST00000301785.5 - 6 1175 HNRNPUL2-BSCL2_ENST00000403734.2_Intron NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 NA NA membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ACCTACAACCGGACTTCCCAT 0.403 NA A||| 1466 0.292732 0.4947 0.2017 5008 , , NA 22717 0.2381 NA 0.2127 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 A 1666,2074 395,876,599 92 84 86 -9.6 0 11 dbSNP_83 86 1991,6239 243,1505,2367 no intron HNRNPUL2 NM_001079559.2 638,2381,2966 AA,AG,GG 24.192,44.5455,30.5514 62490219 3657,8313 1870 4115 5985 SO:0001627 intron_variant CCDS41659.1 11q12 2013-07-16 2008-04-18 ENSG00000214753 ENSG00000214753 221092 25451 protein-coding gene gene with protein product HNRPUL2 NA Standard XM_495877 NM_001079559 NA Approved DKFZp762N1910 uc001nuw.3 Q1KMD3 OTTHUMG00000167773 ENST00000301785.5:c.983-34C>T chr11.hg19:g.62490219G>A NA Q8N3B3 hg19 CCDS41659.1 0.02 24.609741 ACCxGAC COVERED NOVEL HNRNPUL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396208.2 4 59.889477 KEEP 0 0 0 199 6695 GG 1 1 0 - 20 60 758 1 0 47.821599 544 60 19008 926 ENST00000301785.5 0.035461 1 TTC9C 283237 __UNKNOWN__ __UNKNOWN__ 11 62496519 62496519 __UNKNOWN__ Silent SNP T T C rs584845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62496519T>C ENST00000316461.4 + 1 509 c.199T>C c.(199-201)Ttg>Ctg p.L67L TTC9C_ENST00000513247.2_Silent_p.L200L|TTC9C_ENST00000532583.1_Silent_p.L67L NM_173810.3 NP_776171.1 Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 67 NA breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1) 6 AGAAAACATATTGCATACCAC 0.522 NA C||| 1466 0.292732 0.4947 0.2061 5008 , , NA 15824 0.2391 NA 0.2127 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 C 2007,2397 613.3+/-392.2 483,1041,678 78 74 75 199 6 0.9 11 dbSNP_83 75 2104,6494 716.6+/-406.1 267,1570,2462 no coding-synonymous TTC9C NM_173810.3 750,2611,3140 CC,CT,TT 24.4708,45.5722,31.6182 67/172 62496519 4111,8891 2202 4299 6501 SO:0001819 synonymous_variant BC032123 CCDS8033.1 11q12.3 2013-01-10 ENSG00000162222 ENSG00000162222 283237 Tetratricopeptide (TTC) repeat domain containing 28432 protein-coding gene gene with protein product NA Standard NM_173810 NM_173810 NA Approved MGC29649 uc001nuy.3 Q8N5M4 OTTHUMG00000167607 ENST00000316461.4:c.199T>C chr11.hg19:g.62496519T>C NA Q8WYY7 hg19 CCDS8033.1 0.02 11.379233 ATAxTGC COVERED NOVEL TTC9C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395338.1 1 37.910138 KEEP 0 0 0 126 4059 TT 1 1 0 + 8 60 308 0 0 18.988097 261 60 9291 472 ENST00000316461.4 0.02974 1 ZBTB3 79842 __UNKNOWN__ __UNKNOWN__ 11 62519565 62519565 __UNKNOWN__ Missense_Mutation SNP G G C rs544641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62519565G>C ENST00000394807.3 - 2 1847 c.1722C>G c.(1720-1722)atC>atG p.I574M NM_024784.3 NP_079060.1 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 574 NA I -> M (in dbSNP:rs544641). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 TGCTCCCTTAGATGTTAGTTT 0.527 NA G||| 565 0.112819 0.2504 0.0303 5008 , , NA 17043 0.1518 NA 0.0189 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 G MET/ILE 909,3495 350.8+/-311.0 106,697,1399 74 68 70 1722 3.2 0 11 dbSNP_83 70 195,8403 85.8+/-148.2 1,193,4105 yes missense ZBTB3 NM_024784.3 10 107,890,5504 CC,CG,GG 2.268,20.6403,8.491 benign 574/575 62519565 1104,11898 2202 4299 6501 SO:0001583 missense AK027045 CCDS8034.1 11q12.3 2013-01-09 ENSG00000185670 79842 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 22918 protein-coding gene gene with protein product NA Standard NM_024784 NM_024784 NA Approved FLJ23392 uc001nuz.3 Q9H5J0 ENST00000394807.3:c.1722C>G chr11.hg19:g.62519565G>C ENSP00000378286:p.Ile574Met NA hg19 CCDS8034.1 0.02 12.832365 TTAxATG COVERED 224|224 0.10256410256410256|0.10256410256410256 119|119 0.241869918699187|0.241869918699187 10|10 0.027624309392265192|0.027624309392265192 78|78 0.13636363636363635|0.13636363636363635 17|17 0.022427440633245383|0.022427440633245383 G|G 10.98|10.98 1.505033|1.505033 0.26949|0.26949 0.206403|0.206403 0.02268|0.02268 ENSG00000185670|ENSG00000185670 ENST00000394807|ENST00000530112 T|. 0.14266|. 2.52|. 4.15|4.15 3.24|3.24 0.37175|0.37175 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.80722|0.80722 P|P 0.0|0.0 B|. 0.25169|. 0.119|. B|. 0.21917|. 0.037|. T|T 0.33854|0.33854 -0.9852|-0.9852 8|4 0.51188|. T|. 0.08|. .|. 7.9669|7.9669 0.30104|0.30104 0.117:0.0:0.883:0.0|0.117:0.0:0.883:0.0 rs544641;rs3881260;rs17652170;rs544641|rs544641;rs3881260;rs17652170;rs544641 574|. Q9H5J0|. ZBTB3_HUMAN|. M|V 574|3 ENSP00000378286:I574M|. ENSP00000378286:I574M|. I|L -|- 3|1 3|2 ZBTB3|ZBTB3 62276141|62276141 0.000000|0.000000 0.05858|0.05858 0.007000|0.007000 0.13788|0.13788 0.858000|0.858000 0.48976|0.48976 0.116000|0.116000 0.15561|0.15561 0.874000|0.874000 0.35823|0.35823 0.561000|0.561000 0.74099|0.74099 ATC|CTA NOVEL ZBTB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395342.1 6 34.310238 KEEP 0 0 0 114 3979 GG 1 1 0 - 9 60 338 0 0 20.169105 321 60 12143 512 ENST00000394807.3 0.027273 1 TAF6L 10629 __UNKNOWN__ __UNKNOWN__ 11 62543823 62543823 __UNKNOWN__ Intron SNP C C T rs148580239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62543823C>T ENST00000294168.3 + 3 348 TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa NA NA chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357) histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914) DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713) endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GCTTCACATCCTTTGACTCTG 0.542 NA C||| 23 0.00459265 0.0 0.0 5008 , , NA 21590 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 59 54 55 NA NA 11 NA 62543823 2201 4299 6500 SO:0001627 intron_variant BC008785 CCDS8035.1 11q12.3 2008-02-01 2002-08-29 ENSG00000162227 ENSG00000162227 10629 17305 protein-coding gene gene with protein product 602946 TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD NA 9674425 Standard NM_006473 NM_006473 NA Approved PAF65A uc001nvc.3 Q9Y6J9 OTTHUMG00000167610 ENST00000294168.3:c.148-33C>T chr11.hg19:g.62543823C>T NA B2RAT0|Q96HA6 hg19 CCDS8035.1 0.02 13.273387 ATCxTTT COVERED NOVEL TAF6L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395352.1 1 27.689349 KEEP 0 0 0 92 3273 CC 1 1 0 + 10 60 373 0 0 22.38809 338 60 12733 557 ENST00000294168.3 0.028736 1 TAF6L 10629 __UNKNOWN__ __UNKNOWN__ 11 62543960 62543960 __UNKNOWN__ Intron SNP T T C rs567791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62543960T>C ENST00000294168.3 + 3 435 TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa NA NA chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357) histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914) DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713) endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GGGTGCAGGCTACAGAGGGCT 0.587 NA C||| 775 0.154752 0.3457 0.049 5008 , , NA 18750 0.1548 NA 0.0318 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 C 1282,3120 697.2+/-406.2 179,924,1098 67 61 63 0.9 0 11 dbSNP_83 63 310,8288 805.3+/-407.3 8,294,3997 no intron TAF6L NM_006473.3 187,1218,5095 CC,CT,TT 3.6055,29.1231,12.2462 62543960 1592,11408 2201 4299 6500 SO:0001627 intron_variant BC008785 CCDS8035.1 11q12.3 2008-02-01 2002-08-29 ENSG00000162227 ENSG00000162227 10629 17305 protein-coding gene gene with protein product 602946 TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD NA 9674425 Standard NM_006473 NM_006473 NA Approved PAF65A uc001nvc.3 Q9Y6J9 OTTHUMG00000167610 ENST00000294168.3:c.234+18T>C chr11.hg19:g.62543960T>C NA B2RAT0|Q96HA6 hg19 CCDS8035.1 0.02 6.579413 GGCxACA COVERED NOVEL TAF6L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395352.1 0 15.045333 KEEP 0 0 0 50 1579 TT 1 1 0 + 6 60 230 0 0 14.272418 186 60 6673 280 ENST00000294168.3 0.03125 1 TAF6L 10629 __UNKNOWN__ __UNKNOWN__ 11 62554814 62554814 __UNKNOWN__ 3'UTR SNP A A G rs2584916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62554814A>G ENST00000294168.3 + 0 2116 TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa NA NA chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357) histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914) DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713) endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GCCCCCGGAAATGACGTCTCC 0.667 NA OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 684 0.136581 0.2421 0.0663 5008 , , NA 14018 0.1567 NA 0.0487 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G 822,3536 83,656,1440 12 13 13 1.3 1 11 dbSNP_100 13 491,8005 15,461,3772 no utr-3 TAF6L NM_006473.3 98,1117,5212 GG,GA,AA 5.7792,18.8619,10.2147 62554814 1313,11541 2179 4248 6427 SO:0001624 3_prime_UTR_variant BC008785 CCDS8035.1 11q12.3 2008-02-01 2002-08-29 ENSG00000162227 ENSG00000162227 10629 17305 protein-coding gene gene with protein product 602946 TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD NA 9674425 Standard NM_006473 NM_006473 NA Approved PAF65A uc001nvc.3 Q9Y6J9 OTTHUMG00000167610 ENST00000294168.3:c.*46A>G chr11.hg19:g.62554814A>G 1062 B2RAT0|Q96HA6 hg19 CCDS8035.1 0.02 15.421122 GAAxTGA COVERED NOVEL TAF6L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395352.1 2 68.595111 KEEP 0 0 0 228 6975 AA 1 1 0 + 14 60 524 0 0 32.942321 373 60 13429 790 ENST00000294168.3 0.036176 1 TMEM179B 374395 __UNKNOWN__ __UNKNOWN__ 11 62555059 62555059 __UNKNOWN__ Intron SNP G G A rs3087924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62555059G>A ENST00000533861.1 + 1 113 TMEM223_ENST00000525631.1_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000333449.4_Intron Q7Z7N9 T179B_HUMAN transmembrane protein 179B NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 ACATGGCGAGGCCACTTTCGC 0.711 NA OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1637 0.326877 0.152 0.3386 5008 , , NA 14512 0.3919 NA 0.5646 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051355 CCDS8036.1 11q12.3 2007-11-26 ENSG00000185475 ENSG00000185475 374395 33744 protein-coding gene gene with protein product NA Standard NM_199337 NM_199337 NA Approved uc001nvd.4 Q7Z7N9 OTTHUMG00000167611 ENST00000533861.1:c.96+60G>A chr11.hg19:g.62555059G>A 1062 hg19 0.02 5.637839 GAGxCCA COVERED NOVEL TMEM179B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395361.1 1 18.092234 KEEP 0 2 53 79 2777 GG 1 1 0 + 7 60 240 0 0 14.8081 156 60 5453 289 ENST00000533861.1 0.042945 1 TMEM179B 374395 __UNKNOWN__ __UNKNOWN__ 11 62555086 62555086 __UNKNOWN__ Intron SNP C C T rs7941706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62555086C>T ENST00000533861.1 + 1 113 TMEM223_ENST00000525631.1_3'UTR|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000333449.4_Intron Q7Z7N9 T179B_HUMAN transmembrane protein 179B NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(1)|liver(1)|lung(1) 4 ACCGGGCTTGCTGCTGCTCGG 0.692 NA OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1512 0.301917 0.059 0.3372 5008 , , NA 16234 0.3909 NA 0.5656 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC051355 CCDS8036.1 11q12.3 2007-11-26 ENSG00000185475 ENSG00000185475 374395 33744 protein-coding gene gene with protein product NA Standard NM_199337 NM_199337 NA Approved uc001nvd.4 Q7Z7N9 OTTHUMG00000167611 ENST00000533861.1:c.96+87C>T chr11.hg19:g.62555086C>T 1062 hg19 0.02 7.504344 TTGxTGC COVERED NOVEL TMEM179B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395361.1 1 26.89532 KEEP 0 2 58 110 3973 CC 1 1 0 + 7 60 240 0 0 14.052843 201 60 7468 397 ENST00000533861.1 0.033654 1 STX5 6811 __UNKNOWN__ __UNKNOWN__ 11 62592961 62592961 __UNKNOWN__ Silent SNP T T C rs2228627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62592961T>C ENST00000294179.3 - 6 627 c.474A>G c.(472-474)agA>agG p.R158R STX5_ENST00000377897.4_Silent_p.R158R|STX5_ENST00000541317.1_Silent_p.R62R|STX5_ENST00000394690.1_Silent_p.R104R NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 158 NA ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201) protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484) breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 TGCCCTTGGCTCTCACGAAAT 0.527 NA C||| 567 0.113219 0.1641 0.0548 5008 , , NA 19270 0.1558 NA 0.0447 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 C 626,3776 767.5+/-413.5 48,530,1623 105 106 106 474 -0.9 1 11 dbSNP_98 106 495,8103 797.1+/-407.5 18,459,3822 no coding-synonymous STX5 NM_003164.4 66,989,5445 CC,CT,TT 5.7572,14.2208,8.6231 158/356 62592961 1121,11879 2201 4299 6500 SO:0001819 synonymous_variant U26648 CCDS8038.2, CCDS58140.1 11q12.3 2008-02-05 2006-04-25 2006-04-25 ENSG00000162236 ENSG00000162236 6811 11440 protein-coding gene gene with protein product 603189 syntaxin 5A STX5A NA 9188044, 11959998 Standard NM_003164 NM_003164 NA Approved SED5 uc001nvh.3 Q13190 OTTHUMG00000143864 ENST00000294179.3:c.474A>G chr11.hg19:g.62592961T>C NA B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1 hg19 CCDS8038.2 0.02 2.343613 GGCxCTC COVERED 202 0.0924908424908425 70 0.14227642276422764 20 0.055248618784530384 79 0.1381118881118881 33 0.04353562005277045 C 9.268 1.044838 0.19748 0.142208 0.057572 ENSG00000162236 ENST00000431400 . . . 5.28 -0.858 0.10689 . . . . . T 0.00300 0.0009 . . . 0.09310 P 0.9999999999834991 . . . . . . T 0.15838 -1.0423 3 . . . 0.0146 6.23 0.20730 0.1305:0.339:0.0:0.5305 rs2228627;rs9666164;rs61541216;rs9666164 . . . G 13 . . E - 2 0 STX5 62349537 0.127000 0.22367 0.955000 0.39395 0.927000 0.56198 -0.455000 0.06762 -0.588000 0.05882 -0.971000 0.02607 GAG NOVEL STX5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000290113.1 0 3.896272 KEEP 0 0 0 13 395 TT 0.994391 0.985406 0 - 7 60 254 0 0 19.249308 55 60 1984 89 ENST00000294179.3 0.112903 0.990964 WDR74 54663 __UNKNOWN__ __UNKNOWN__ 11 62603047 62603047 __UNKNOWN__ Intron SNP G G T rs2298635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62603047G>T ENST00000525752.1 - 7 1082 WDR74_ENST00000540620.1_Intron|WDR74_ENST00000529106.1_Intron|WDR74_ENST00000311713.7_Intron|WDR74_ENST00000525239.1_Intron|WDR74_ENST00000278856.4_Intron Q6RFH5 WDR74_HUMAN WD repeat domain 74 NA NA blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070) nucleolus (GO:0005730)|nucleus (GO:0005634) kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1) 8 TGGGGGGCTCGATGTGCCCCT 0.592 NA g||| 563 0.11242 0.1634 0.0548 5008 , , NA 19441 0.1558 NA 0.0437 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 541,3499 35,471,1514 47 51 50 -7.7 0 11 dbSNP_100 50 468,7868 17,434,3717 no intron WDR74 NM_018093.2 52,905,5231 TT,TG,GG 5.6142,13.3911,8.1529 62603047 1009,11367 2020 4168 6188 SO:0001627 intron_variant CCDS44630.1 11q12.3 2013-01-09 ENSG00000133316 54663 WD repeat domain containing 25529 protein-coding gene gene with protein product NA Standard NM_018093 NM_018093 NA Approved FLJ10439 uc001nvm.2 Q6RFH5 ENST00000525752.1:c.346-43C>A chr11.hg19:g.62603047G>T NA A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2 hg19 0.02 10.428739 CTCxATG COVERED NOVEL WDR74-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395679.1 1 29.023079 KEEP 0 1 30 107 3603 GG 1 1 0 - 10 60 332 0 0 19.347984 288 60 9832 491 ENST00000525752.1 0.033557 1 SLC22A8 9376 __UNKNOWN__ __UNKNOWN__ 11 62761161 62761161 __UNKNOWN__ Intron SNP C C T rs2187384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62761161C>T ENST00000336232.2 - 10 1461 SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Intron|SLC22A8_ENST00000311438.8_Intron|SLC22A8_ENST00000545207.1_Intron NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 NA NA glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651) endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495) GATGGCTCCCCTGGGTAGAGG 0.582 NA C||| 663 0.132388 0.062 0.0937 5008 , , NA 21133 0.2659 NA 0.1918 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF097491, BC022387 CCDS8042.1, CCDS53643.1, CCDS53644.1 11q12.3 2013-05-22 ENSG00000149452 ENSG00000149452 9376 Solute carriers 10972 protein-coding gene gene with protein product 607581 NA 10049739 Standard NM_004254 NM_004254 NA Approved OAT3 uc001nwo.3 Q8TCC7 OTTHUMG00000167768 ENST00000336232.2:c.1326-62G>A chr11.hg19:g.62761161C>T NA B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1 hg19 CCDS8042.1 0.02 12.850786 CCCxTGG COVERED NOVEL SLC22A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396191.1 3 7.825511 KEEP 0 0 0 26 923 CC 0.999957 0.999957 0 - 11 60 392 0 0 23.564977 317 60 11986 415 ENST00000336232.2 0.033537 1 SLC22A8 9376 __UNKNOWN__ __UNKNOWN__ 11 62766431 62766431 __UNKNOWN__ Silent SNP A A T rs2276299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62766431A>T ENST00000336232.2 - 5 858 c.723T>A c.(721-723)acT>acA p.T241T SLC22A8_ENST00000535878.1_Silent_p.T118T|SLC22A8_ENST00000430500.2_Silent_p.T241T|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Silent_p.T241T|SLC22A8_ENST00000545207.1_Silent_p.T150T NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 241 NA glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651) endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495) GAATGGACACAGTTAACTGCA 0.572 NA A||| 932 0.186102 0.0371 0.3516 5008 , , NA 22117 0.2718 NA 0.1809 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 A ,,, 272,4130 151.8+/-185.6 11,250,1940 120 110 113 723,450,354,723 -3 0 11 dbSNP_100 113 1469,7127 279.5+/-294.0 120,1229,2949 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous SLC22A8 NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3 ,,, 131,1479,4889 TT,TA,AA 17.0893,6.179,13.3944 ,,, 241/543,150/452,118/420,241/543 62766431 1741,11257 2201 4298 6499 SO:0001819 synonymous_variant AF097491, BC022387 CCDS8042.1, CCDS53643.1, CCDS53644.1 11q12.3 2013-05-22 ENSG00000149452 ENSG00000149452 9376 Solute carriers 10972 protein-coding gene gene with protein product 607581 NA 10049739 Standard NM_004254 NM_004254 NA Approved OAT3 uc001nwo.3 Q8TCC7 OTTHUMG00000167768 ENST00000336232.2:c.723T>A chr11.hg19:g.62766431A>T NA B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1 hg19 CCDS8042.1 0.02 12.077729 CACxGTT COVERED NOVEL SLC22A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396191.1 0 9.628116 KEEP 0 0 0 32 1003 AA 0.999997 0.999997 0 - 8 60 322 0 0 20.386015 261 60 9744 366 ENST00000336232.2 0.02974 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 62814871 62814871 __UNKNOWN__ IGR SNP A A G rs17157693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:62814871A>G NA NA SLC22A8 (31560 upstream) : SLC22A24 (32540 downstream) NA NA NA ATGGTGGACAATGAAGCCATC 0.493 NA A||| 1173 0.234225 0.0076 0.3012 5008 , , NA 21575 0.4028 NA 0.2356 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.62814871A>G NA hg19 0.02 4.363342 ACAxTGA COVERED NOVEL 0 0 2.708589 KEEP 0 0 0 9 297 AA 0.99254 0.992521 0 5 60 189 0 0 12.579134 99 60 3590 144 0.048077 0.999981 SLC22A9 114571 __UNKNOWN__ __UNKNOWN__ 11 63175800 63175800 __UNKNOWN__ Intron SNP A A G rs7109920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63175800A>G ENST00000279178.3 + 8 1646 SLC22A9_ENST00000310969.4_Intron NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 NA NA hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AAAATAAATCATAACAGTCAT 0.333 NA G||| 2985 0.596046 0.7126 0.5447 5008 , , NA 20234 0.8413 NA 0.3002 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AP001880 CCDS8043.1 11q12.3 2014-05-20 2008-01-11 ENSG00000149742 ENSG00000149742 114571 Solute carriers 16261 protein-coding gene gene with protein product 607579 NA 11327718, 17393504 Standard NM_080866 NM_080866 NA Approved OAT4, FLJ23666, UST3, OAT7 uc001nww.3 Q8IVM8 OTTHUMG00000167805 ENST00000279178.3:c.1397+108A>G chr11.hg19:g.63175800A>G NA A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7 hg19 CCDS8043.1 0.02 7.185158 ATCxTAA COVERED NOVEL SLC22A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396371.1 2 3.61034 KEEP 0 0 0 12 361 AA 0.993634 0.993634 0 + 14 60 525 0 0 38.685889 143 60 5302 179 ENST00000279178.3 0.089172 1 SLC22A9 114571 __UNKNOWN__ __UNKNOWN__ 11 63176367 63176367 __UNKNOWN__ Intron SNP G G A rs4088469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63176367G>A ENST00000279178.3 + 9 1850 SLC22A9_ENST00000310969.4_Intron NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 NA NA hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 TAAATAGCCCGGTTGCCCCTC 0.473 NA g||| 2679 0.534944 0.5303 0.5101 5008 , , NA 21335 0.8413 NA 0.2614 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 T 2245,2157 592.7+/-387.9 565,1115,521 67 65 66 -4.1 0 11 dbSNP_108 66 2029,6567 351.9+/-328.4 235,1559,2504 no intron SLC22A9 NM_080866.2 800,2674,3025 AA,AG,GG 23.604,49.0005,32.882 63176367 4274,8724 2201 4298 6499 SO:0001627 intron_variant AP001880 CCDS8043.1 11q12.3 2014-05-20 2008-01-11 ENSG00000149742 ENSG00000149742 114571 Solute carriers 16261 protein-coding gene gene with protein product 607579 NA 11327718, 17393504 Standard NM_080866 NM_080866 NA Approved OAT4, FLJ23666, UST3, OAT7 uc001nww.3 Q8IVM8 OTTHUMG00000167805 ENST00000279178.3:c.1601+16G>A chr11.hg19:g.63176367G>A NA A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7 hg19 CCDS8043.1 0.02 9.084948 CCCxGTT COVERED NOVEL SLC22A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396371.1 3 7.524187 KEEP 0 0 0 25 858 GG 0.999931 0.999931 0 + 12 60 452 0 0 30.090287 235 60 8281 315 ENST00000279178.3 0.048583 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 63177873 63177873 __UNKNOWN__ IGR SNP A A G rs4246213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63177873A>G NA NA SLC22A9 (107 upstream) : HRASLS5 (51012 downstream) NA NA NA AGAAAATTATATAACACTTTA 0.274 NA A||| 2674 0.533946 0.525 0.5101 5008 , , NA 14360 0.8433 NA 0.2614 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.63177873A>G NA hg19 0.02 4.363327 TATxTAA COVERED NOVEL 0 24 3.610713 KEEP 0 0 0 12 366 AA 0.993634 0.993615 0 6 60 223 0 0 15.202824 98 60 3597 120 0.057692 0.999981 HRASLS5 117245 __UNKNOWN__ __UNKNOWN__ 11 63233710 63233710 __UNKNOWN__ Silent SNP A A G rs2275999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63233710A>G ENST00000539221.1 - 5 752 c.619T>C c.(619-621)Ttg>Ctg p.L207L HRASLS5_ENST00000540857.1_Silent_p.L197L|HRASLS5_ENST00000301790.4_Silent_p.L207L Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 207 NA transferase activity, transferring acyl groups (GO:0016746) endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TCCACCGGCAAGGGCAGGTAC 0.507 NA G||| 1194 0.238419 0.3971 0.2752 5008 , , NA 20315 0.1756 NA 0.0765 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 G ,, 1503,2899 669.0+/-402.1 259,985,957 222 168 187 619,589,619 4.2 1 11 dbSNP_100 187 540,8056 793.0+/-407.5 14,512,3772 no coding-synonymous,coding-synonymous,coding-synonymous HRASLS5 NM_001146728.1,NM_001146729.1,NM_054108.3 ,, 273,1497,4729 GG,GA,AA 6.282,34.1436,15.7178 ,, 207/254,197/270,207/280 63233710 2043,10955 2201 4298 6499 SO:0001819 synonymous_variant AJ416558 CCDS8044.1, CCDS53646.1, CCDS53647.1 11q13.2 2006-08-16 ENSG00000168004 ENSG00000168004 117245 24978 protein-coding gene gene with protein product 611474 NA Standard NM_054108 NM_001146729 NA Approved HRLP5 uc001nwy.2 Q96KN8 OTTHUMG00000167806 ENST00000539221.1:c.619T>C chr11.hg19:g.63233710A>G NA B7X6T1|F5GZ87|F5H4Y9 hg19 CCDS53647.1 0.02 30.289931 GCAxGGG COVERED NOVEL HRASLS5-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000396374.1 3 25.878082 KEEP 0 0 0 86 2743 AA 1 1 0 - 21 60 832 0 0 53.193698 613 70 22369 881 ENST00000539221.1 0.033123 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 63320239 63320239 __UNKNOWN__ IGR SNP A A G rs1554656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63320239A>G NA NA RARRES3 (6305 upstream) : HRASLS2 (2 downstream) NA NA NA cattcagtccatagcaGAGCC 0.383 NA A||| 1665 0.332468 0.1967 0.4625 5008 , , NA 19864 0.7014 NA 0.2187 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.63320239A>G NA hg19 0.02 21.500938 TCCxTAG COVERED NOVEL 0 1 27.685168 KEEP 0 0 0 92 2939 AA 1 1 0 23 60 840 0 0 54.504306 476 60 17760 743 0.046092 1 PLA2G16 11145 __UNKNOWN__ __UNKNOWN__ 11 63340830 63340830 __UNKNOWN__ 3'UTR SNP A A G rs56023335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63340830A>G ENST00000323646.5 - 0 2430 NM_007069.3 NP_009000.2 P53816 HRSL3_HUMAN phospholipase A2, group XVI NA NA glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471) 1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623) kidney(2)|lung(1)|ovary(1)|skin(1) 5 tttttttctcatttattgtgt 0.269 NA A||| 2041 0.407548 0.3041 0.5663 5008 , , NA 14434 0.4236 NA 0.4384 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X92814 CCDS8047.1 11q12.3 2014-03-14 2008-09-19 2008-09-19 ENSG00000176485 ENSG00000176485 11145 3.1.1.4 17825 protein-coding gene gene with protein product adipose-specific PLA2 613867 HRAS-like suppressor 3 HRASLS3 NA 9771974, 18614531 Standard NM_001128203 NM_007069 NA Approved HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA uc009you.1 P53816 OTTHUMG00000167852 ENST00000323646.5:c.*1587T>C chr11.hg19:g.63340830A>G NA B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1 hg19 CCDS8047.1 0.02 3.784018 CTCxTTT COVERED NOVEL PLA2G16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396632.1 2 8.679783 KEEP 0 0 0 29 870 AA 0.999997 0.99997 0 - 6 60 199 0 0 12.861986 96 60 3357 132 ENST00000323646.5 0.058824 0.999973 C11orf84 144097 __UNKNOWN__ __UNKNOWN__ 11 63585804 63585804 __UNKNOWN__ Silent SNP C C A rs643634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63585804C>A ENST00000294244.4 + 3 873 c.574C>A c.(574-576)Cgg>Agg p.R192R NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 192 Pro-rich. NA endometrium(3)|kidney(1)|lung(3)|skin(1) 8 TAAAAGGAGCCGGCCCAGGGG 0.612 NA C||| 1966 0.392572 0.0734 0.6354 5008 , , NA 14644 0.6944 NA 0.4225 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 C 609,3793 263.8+/-265.7 46,517,1638 51 62 58 574 5.5 1 11 dbSNP_83 58 4008,4588 554.1+/-386.4 935,2138,1225 no coding-synonymous C11orf84 NM_138471.1 981,2655,2863 AA,AC,CC 46.6263,13.8346,35.5208 192/382 63585804 4617,8381 2201 4298 6499 SO:0001819 synonymous_variant BC007540 CCDS31594.1 11q13.1 2014-02-10 ENSG00000168005 ENSG00000168005 144097 25115 protein-coding gene gene with protein product NA 12477932 Standard NM_138471 NM_138471 NA Approved uc001nxt.3 Q9BUA3 OTTHUMG00000167746 ENST00000294244.4:c.574C>A chr11.hg19:g.63585804C>A NA Q68CV7|Q6PHS2|Q96IH0 hg19 CCDS31594.1 0.02 11.074138 AGCxGGC COVERED NOVEL C11orf84-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396084.1 1 27.085902 KEEP 0 0 0 90 3122 CC 1 1 0 + 11 60 402 0 0 25.297373 270 60 9034 462 ENST00000294244.4 0.039146 1 FLRT1 23769 __UNKNOWN__ __UNKNOWN__ 11 63884474 63884474 __UNKNOWN__ Silent SNP C C T rs3751121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63884474C>T ENST00000246841.3 + 2 1778 c.735C>T c.(733-735)agC>agT p.S245S MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 217 NA cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057) breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 ACACCTTCAGCCGCCTACAGA 0.662 NA C||| 582 0.116214 0.0008 0.1138 5008 , , NA 19497 0.4782 NA 0.0179 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C , 50,4352 50.2+/-85.5 0,50,2151 30 28 29 735, 4.6 1 11 dbSNP_107 29 103,8491 50.6+/-110.7 1,101,4195 no coding-synonymous,intron FLRT1,MACROD1 NM_013280.4,NM_014067.3 , 1,151,6346 TT,TC,CC 1.1985,1.1358,1.1773 , 245/675, 63884474 153,12843 2201 4297 6498 SO:0001819 synonymous_variant AF169675 CCDS8057.1 11q13.1 2014-03-03 23769 Fibronectin type III domain containing 3760 protein-coding gene gene with protein product 604806 NA 10644439, 24482476 Standard NM_013280 NM_013280 NA Approved MGC21624, SPG68 uc001nyi.1 Q9NZU1 ENST00000246841.3:c.735C>T chr11.hg19:g.63884474C>T NA Q8WVA2 hg19 CCDS8057.1 0.02 8.103461 CAGxCGC COVERED NOVEL FLRT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396287.2 0 25.581943 KEEP 0 0 0 85 3022 CC 1 1 0 + 14 60 491 0 0 33.456435 196 60 7251 387 ENST00000246841.3 0.066667 1 NUDT22 84304 __UNKNOWN__ __UNKNOWN__ 11 63996828 63996828 __UNKNOWN__ Intron SNP C C T rs117427483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:63996828C>T ENST00000279206.3 + 4 833 NUDT22_ENST00000441250.2_Intron|RP11-783K16.14_ENST00000534988.1_RNA NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 NA NA hydrolase activity (GO:0016787) breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 TGAGTAGGCTCGGGTACATGA 0.637 NA C||| 18 0.00359425 0.0008 0.0 5008 , , NA 19448 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 55 52 53 NA NA 11 NA 63996828 2200 4297 6497 SO:0001627 intron_variant BC006129 CCDS8061.1, CCDS44640.1 11q13.1 2008-02-05 ENSG00000149761 ENSG00000149761 84304 Nudix motif containing 28189 protein-coding gene gene with protein product NA 12477932 Standard NM_032344 NM_032344 NA Approved MGC13045 uc009ype.4 Q9BRQ3 OTTHUMG00000167791 ENST00000279206.3:c.677+12C>T chr11.hg19:g.63996828C>T NA C9JY06|Q71RD5 hg19 CCDS8061.1 0.02 6.288583 GCTxGGG COVERED NOVEL NUDT22-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396304.2 1 25.578407 KEEP 0 0 0 85 2858 CC 1 1 0 + 8 60 282 0 0 17.616673 183 60 6532 346 ENST00000279206.3 0.041885 1 PLCB3 5331 __UNKNOWN__ __UNKNOWN__ 11 64034911 64034911 __UNKNOWN__ Silent SNP G G A rs28395877 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64034911G>A ENST00000540288.1 + 31 3691 c.3588G>A c.(3586-3588)ccG>ccA p.P1196P PLCB3_ENST00000279230.6_Silent_p.P1196P|PLCB3_ENST00000325234.5_Silent_p.P1129P NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 1196 NA inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 GCGAGATGCCGGAGGGGCTGG 0.726 NA G||| 602 0.120208 0.0023 0.1182 5008 , , NA 11849 0.4861 NA 0.0219 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G , 45,4171 0,45,2063 5 6 6 3588,3387 -3.3 0 11 dbSNP_126 6 103,8121 0,103,4009 no coding-synonymous,coding-synonymous PLCB3 NM_000932.2,NM_001184883.1 , 0,148,6072 AA,AG,GG 1.2524,1.0674,1.1897 , 1196/1235,1129/1168 64034911 148,12292 2108 4112 6220 SO:0001819 synonymous_variant Z26649 CCDS8064.1, CCDS53654.1 11q13 2008-03-18 ENSG00000149782 ENSG00000149782 5331 3.1.4.11 9056 protein-coding gene gene with protein product 600230 NA 7849701 Standard NM_000932 NA Approved uc009ypg.2 Q01970 OTTHUMG00000167816 ENST00000540288.1:c.3588G>A chr11.hg19:g.64034911G>A NA A5PKZ6|G5E960|Q8N1A4 hg19 CCDS8064.1 0.02 4.176697 GCCxGAG COVERED NOVEL PLCB3-002 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396405.1 2 32.474178 KEEP 0 0 0 108 3611 GG 1 0.999996 0 + 5 60 180 0 0 11.47856 109 60 3782 282 ENST00000540288.1 0.04386 0.999996 SLC22A12 116085 __UNKNOWN__ __UNKNOWN__ 11 64359274 64359274 __UNKNOWN__ Silent SNP C C T rs3825017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64359274C>T ENST00000377567.2 + 2 710 c.246C>T c.(244-246)aaC>aaT p.N82N SLC22A12_ENST00000336464.7_Silent_p.N82N|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Silent_p.N82N|SLC22A12_ENST00000377574.1_Silent_p.N82N Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 82 NA cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Losartan(DB00678)|Probenecid(DB01032) CGGGCCCCAACCAGAGGCCCC 0.687 NA C||| 354 0.0706869 0.0038 0.0634 5008 , , NA 12568 0.2956 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C , 23,4379 28.1+/-56.4 0,23,2178 28 31 30 246, 3.5 0 11 dbSNP_107 30 20,8574 11.9+/-42.8 0,20,4277 no coding-synonymous,utr-5 SLC22A12 NM_144585.2,NM_153378.1 , 0,43,6455 TT,TC,CC 0.2327,0.5225,0.3309 , 82/554, 64359274 43,12953 2201 4297 6498 SO:0001819 synonymous_variant AB071863 CCDS8075.1, CCDS60835.1, CCDS60836.1 11q13.1 2013-05-22 2008-01-11 ENSG00000197891 ENSG00000197891 116085 Solute carriers 17989 protein-coding gene gene with protein product 607096 solute carrier family 22 (organic anion/cation transporter), member 12 NA 12024214 Standard NM_144585 NM_144585 NA Approved OAT4L, RST, URAT1 uc009yps.2 Q96S37 OTTHUMG00000045213 ENST00000377567.2:c.246C>T chr11.hg19:g.64359274C>T NA B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2 hg19 0.02 3.851888 CAAxCAG COVERED NOVEL SLC22A12-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000141957.2 1 5.322262 KEEP 0 1 6 20 671 CC 0.999869 0.999867 0 + 6 60 187 0 0 11.317765 111 60 3935 167 ENST00000377567.2 0.051282 0.999998 SLC22A12 116085 __UNKNOWN__ __UNKNOWN__ 11 64367736 64367736 __UNKNOWN__ Intron SNP A A G rs7929627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64367736A>G ENST00000377567.2 + 7 1425 SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000377574.1_Intron Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 NA NA cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Losartan(DB00678)|Probenecid(DB01032) CCAAACATTTACAAAGAGGCC 0.582 NA G||| 1994 0.398163 0.674 0.2536 5008 , , NA 17047 0.5129 NA 0.2018 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB071863 CCDS8075.1, CCDS60835.1, CCDS60836.1 11q13.1 2013-05-22 2008-01-11 ENSG00000197891 ENSG00000197891 116085 Solute carriers 17989 protein-coding gene gene with protein product 607096 solute carrier family 22 (organic anion/cation transporter), member 12 NA 12024214 Standard NM_144585 NM_144585 NA Approved OAT4L, RST, URAT1 uc009yps.2 Q96S37 OTTHUMG00000045213 ENST00000377567.2:c.962-103A>G chr11.hg19:g.64367736A>G NA B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2 hg19 0.02 4.965872 TTTxCAA COVERED NOVEL SLC22A12-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000141957.2 0 5.415815 KEEP 0 0 0 18 553 AA 0.999859 0.999856 0 + 8 60 298 0 0 21.012232 107 60 3778 161 ENST00000377567.2 0.069565 0.999997 SLC22A12 116085 __UNKNOWN__ __UNKNOWN__ 11 64367862 64367862 __UNKNOWN__ Silent SNP T T C rs7932775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64367862T>C ENST00000377567.2 + 7 1449 c.985T>C c.(985-987)Ttg>Ctg p.L329L SLC22A12_ENST00000336464.7_Silent_p.L403L|SLC22A12_ENST00000473690.1_Silent_p.L216L|SLC22A12_ENST00000377572.1_Silent_p.L329L|SLC22A12_ENST00000377574.1_Silent_p.L437L Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 437 NA Missing (affects urate transport). {ECO:0000269|PubMed:15327384}. cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Losartan(DB00678)|Probenecid(DB01032) GCGCTCAGCCTTGGCCGTGCT 0.647 NA C||| 1990 0.397364 0.674 0.255 5008 , , NA 14174 0.5129 NA 0.2018 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 C , 2545,1845 746,1053,396 14 17 16 1309,646 2.9 1 11 dbSNP_116 16 1592,6994 173,1246,2874 no coding-synonymous,coding-synonymous SLC22A12 NM_144585.2,NM_153378.1 , 919,2299,3270 CC,CT,TT 18.5418,42.0273,31.8819 , 437/554,216/333 64367862 4137,8839 2195 4293 6488 SO:0001819 synonymous_variant AB071863 CCDS8075.1, CCDS60835.1, CCDS60836.1 11q13.1 2013-05-22 2008-01-11 ENSG00000197891 ENSG00000197891 116085 Solute carriers 17989 protein-coding gene gene with protein product 607096 solute carrier family 22 (organic anion/cation transporter), member 12 NA 12024214 Standard NM_144585 NM_144585 NA Approved OAT4L, RST, URAT1 uc009yps.2 Q96S37 OTTHUMG00000045213 ENST00000377567.2:c.985T>C chr11.hg19:g.64367862T>C NA B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2 hg19 0.02 5.048197 GCCxTGG COVERED NOVEL SLC22A12-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000141957.2 0 7.823876 KEEP 0 0 0 26 822 TT 0.999957 0.999955 0 + 11 60 422 0 0 31.611049 106 60 3816 174 ENST00000377567.2 0.094017 0.999998 NRXN2 9379 __UNKNOWN__ __UNKNOWN__ 11 64373656 64373656 __UNKNOWN__ 3'UTR SNP G G C rs11231840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64373656G>C ENST00000377551.1 - 0 6362 NRXN2_ENST00000265459.6_3'UTR|NRXN2_ENST00000409571.1_3'UTR|NRXN2_ENST00000301894.2_3'UTR|NRXN2_ENST00000377559.3_3'UTR Q9P2S2 NRX2A_HUMAN neurexin 2 NA NA adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TTGGAATTTGGAAAGTTTTTG 0.493 NA G||| 352 0.0702875 0.0038 0.0677 5008 , , NA 12989 0.2907 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8077.1, CCDS31597.1, CCDS8078.1 11q13 2008-07-18 ENSG00000110076 ENSG00000110076 9379 8009 protein-coding gene gene with protein product neurexin II 600566 NA 1621094 Standard NM_015080 NM_015080 NA Approved uc021qkw.1 P58401 OTTHUMG00000045214 ENST00000377551.1:c.*1012C>G chr11.hg19:g.64373656G>C NA A7E2C1|Q9Y2D6 hg19 CCDS8077.1 0.02 1.930018 TTGxAAA COVERED NOVEL NRXN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000104967.3 0 5.416615 KEEP 0 0 0 18 596 GG 0.999859 0.998325 0 - 6 60 217 0 0 15.48498 69 60 2477 97 ENST00000377551.1 0.08 0.998465 NRXN2 9379 __UNKNOWN__ __UNKNOWN__ 11 64374241 64374241 __UNKNOWN__ 3'UTR SNP G G A rs3741399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64374241G>A ENST00000377551.1 - 0 5777 NRXN2_ENST00000265459.6_3'UTR|NRXN2_ENST00000409571.1_3'UTR|NRXN2_ENST00000301894.2_3'UTR|NRXN2_ENST00000377559.3_3'UTR Q9P2S2 NRX2A_HUMAN neurexin 2 NA NA adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GGGGATTGGAGGGCTTGGGAA 0.498 NA g||| 828 0.165335 0.2345 0.1282 5008 , , NA 9417 0.3185 NA 0.0467 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8077.1, CCDS31597.1, CCDS8078.1 11q13 2008-07-18 ENSG00000110076 ENSG00000110076 9379 8009 protein-coding gene gene with protein product neurexin II 600566 NA 1621094 Standard NM_015080 NM_015080 NA Approved uc021qkw.1 P58401 OTTHUMG00000045214 ENST00000377551.1:c.*427C>T chr11.hg19:g.64374241G>A NA A7E2C1|Q9Y2D6 hg19 CCDS8077.1 0.02 -0.438606 GGAxGGC COVERED NOVEL NRXN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000104967.3 0 5.116697 KEEP 0 0 0 17 611 GG 0.999366 0.959251 0 - 4 60 144 0 0 10.256916 46 60 1694 84 ENST00000377551.1 0.08 0.959859 NRXN2 9379 __UNKNOWN__ __UNKNOWN__ 11 64419218 64419218 __UNKNOWN__ Intron SNP T T C rs386754352|rs502567 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64419218T>C ENST00000377551.1 - 13 2748 NRXN2_ENST00000265459.6_Intron|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Intron|NRXN2_ENST00000377559.3_Intron Q9P2S2 NRX2A_HUMAN neurexin 2 NA NA adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GTGACATCTTTAGAGATGTCC 0.617 NA OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1961 0.391573 0.6543 0.2522 5008 , , NA 19330 0.5129 NA 0.2008 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8077.1, CCDS31597.1, CCDS8078.1 11q13 2008-07-18 ENSG00000110076 ENSG00000110076 9379 8009 protein-coding gene gene with protein product neurexin II 600566 NA 1621094 Standard NM_015080 NM_015080 NA Approved uc021qkw.1 P58401 OTTHUMG00000045214 ENST00000377551.1:c.2537-110A>G chr11.hg19:g.64419218T>C 1076 A7E2C1|Q9Y2D6 hg19 CCDS8077.1 0.02 2.426 CTTxAGA COVERED NOVEL NRXN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000104967.3 0 2.407041 KEEP 0 0 0 8 246 TT 0.99257 0.985548 0 - 4 60 143 0 0 9.742258 59 60 2074 75 ENST00000377551.1 0.063492 0.992926 SF1 7536 __UNKNOWN__ __UNKNOWN__ 11 64543901 64543901 __UNKNOWN__ Intron SNP A A G rs11231868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64543901A>G ENST00000433274.2 - 2 391 SF1_ENST00000377390.3_Intron|SF1_ENST00000377394.3_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_Intron NM_001178031.1 NP_001171502.1 Q15637 SF01_HUMAN splicing factor 1 NA NA Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 ACTTTCAAAAAATGCAGATCT 0.348 NA A||| 11 0.00219649 0.0 0.0 5008 , , NA 23243 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 95 101 99 NA NA 11 NA 64543901 1327 2309 3636 SO:0001627 intron_variant D26120 CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1 11q13 2014-09-17 2001-12-19 2002-01-11 ENSG00000168066 ENSG00000168066 7536 Zinc fingers, CCHC domain containing 12950 protein-coding gene gene with protein product 601516 zinc finger protein 162 ZNF162 NA 7912130, 9573336 Standard NM_004630 NM_201997 NA Approved ZFM1, ZCCHC25 uc001oaz.2 Q15637 OTTHUMG00000066833 ENST00000433274.2:c.82+68T>C chr11.hg19:g.64543901A>G NA B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0 hg19 CCDS53660.1 0.02 8.847501 AAAxATG COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 A 0.012 -1.656466 0.00779 . . ENSG00000168066 ENST00000416674 . . . 4.94 -4.51 0.03483 . . . . . T 0.28433 0.0703 . . . 0.09310 N 0.999999 B 0.02656 0.0 B 0.01281 0.0 T 0.23547 -1.0185 7 0.87932 D 0 . 7.131 0.25502 0.3662:0.4125:0.2213:0.0 rs11231868;rs11231868 77 Q14820 . L 77 . ENSP00000411755:F77L F - 1 0 SF1 64300477 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.550000 0.02180 -1.486000 0.01851 -0.445000 0.05633 TTT NOVEL SF1-016 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000157360.4 2 7.219429 KEEP 0 0 0 24 736 AA 0.999909 0.999909 0 - 9 60 338 0 0 21.833424 208 60 7277 244 ENST00000433274.2 0.041475 1 CDC42BPG 55561 __UNKNOWN__ __UNKNOWN__ 11 64601933 64601933 __UNKNOWN__ Silent SNP T T C rs7933683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64601933T>C ENST00000342711.5 - 19 2291 c.2292A>G c.(2290-2292)acA>acG p.T764T NM_017525.2 NP_059995.2 CDC42 binding protein kinase gamma (DMPK-like) NA NA central_nervous_system(1)|lung(3) 4 CCTGCACCTGTGTCAGCCGCT 0.706 NA C||| 1376 0.27476 0.0424 0.2147 5008 , , NA 15170 0.4921 NA 0.2575 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 C 284,3850 12,260,1795 6 7 6 2292 -6.1 0.8 11 dbSNP_116 6 1681,6531 171,1339,2596 no coding-synonymous CDC42BPG NM_017525.2 183,1599,4391 CC,CT,TT 20.47,6.8699,15.9161 764/1552 64601933 1965,10381 2067 4106 6173 SO:0001819 synonymous_variant AY648038 CCDS31601.1 11q13 2013-01-10 ENSG00000171219 ENSG00000171219 55561 Pleckstrin homology (PH) domain containing 29829 protein-coding gene gene with protein product 613991 NA 9341881, 15194684 Standard XM_290516 NM_017525 NA Approved HSMDPKIN, MRCKgamma, DMPK2, kappa-200 uc001obs.4 Q6DT37 OTTHUMG00000045365 ENST00000342711.5:c.2292A>G chr11.hg19:g.64601933T>C NA hg19 CCDS31601.1 0.02 2.227557 CTGxGTC COVERED NOVEL CDC42BPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105352.4 1 8.124138 KEEP 0 0 0 27 831 TT 0.999988 0.999943 0 - 6 60 219 0 0 14.964727 92 60 3247 149 ENST00000342711.5 0.061224 0.999956 CDC42BPG 55561 __UNKNOWN__ __UNKNOWN__ 11 64602757 64602757 __UNKNOWN__ Intron SNP T T C rs561895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64602757T>C ENST00000342711.5 - 16 1953 NM_017525.2 NP_059995.2 CDC42 binding protein kinase gamma (DMPK-like) NA NA central_nervous_system(1)|lung(3) 4 TGCCCACCCCTCAACTGGCTC 0.657 NA C||| 3147 0.628395 0.6286 0.6138 5008 , , NA 15604 0.9464 NA 0.3857 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 C 804,580 243,318,131 106 82 89 1.2 0 11 dbSNP_83 89 1085,2097 180,725,686 no intron CDC42BPG NM_017525.2 423,1043,817 CC,CT,TT 34.0981,41.9075,41.371 64602757 1889,2677 692 1591 2283 SO:0001627 intron_variant AY648038 CCDS31601.1 11q13 2013-01-10 ENSG00000171219 ENSG00000171219 55561 Pleckstrin homology (PH) domain containing 29829 protein-coding gene gene with protein product 613991 NA 9341881, 15194684 Standard XM_290516 NM_017525 NA Approved HSMDPKIN, MRCKgamma, DMPK2, kappa-200 uc001obs.4 Q6DT37 OTTHUMG00000045365 ENST00000342711.5:c.1953+61A>G chr11.hg19:g.64602757T>C NA hg19 CCDS31601.1 0.02 14.630136 CCCxCAA COVERED NOVEL CDC42BPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105352.4 6 10.764754 KEEP 0 1 35 48 1477 TT 1 1 0 - 27 60 967 0 0 69.194968 303 60 11048 454 ENST00000342711.5 0.081818 1 CDC42BPG 55561 __UNKNOWN__ __UNKNOWN__ 11 64606177 64606177 __UNKNOWN__ Silent SNP C C T rs653343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64606177C>T ENST00000342711.5 - 8 1073 c.1074G>A c.(1072-1074)ggG>ggA p.G358G NM_017525.2 NP_059995.2 CDC42 binding protein kinase gamma (DMPK-like) NA NA central_nervous_system(1)|lung(3) 4 TGTCCATGGGCCCCCGCAGCT 0.612 NA C||| 1343 0.268171 0.2829 0.366 5008 , , NA 16489 0.4544 NA 0.1233 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 C 1122,3280 398.5+/-330.9 132,858,1211 69 69 69 1074 -3 0 11 dbSNP_83 69 821,7773 190.7+/-237.1 44,733,3520 no coding-synonymous CDC42BPG NM_017525.2 176,1591,4731 TT,TC,CC 9.5532,25.4884,14.9508 358/1552 64606177 1943,11053 2201 4297 6498 SO:0001819 synonymous_variant AY648038 CCDS31601.1 11q13 2013-01-10 ENSG00000171219 ENSG00000171219 55561 Pleckstrin homology (PH) domain containing 29829 protein-coding gene gene with protein product 613991 NA 9341881, 15194684 Standard XM_290516 NM_017525 NA Approved HSMDPKIN, MRCKgamma, DMPK2, kappa-200 uc001obs.4 Q6DT37 OTTHUMG00000045365 ENST00000342711.5:c.1074G>A chr11.hg19:g.64606177C>T NA hg19 CCDS31601.1 0.02 7.794562 GGGxCCC COVERED NOVEL CDC42BPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000105352.4 1 17.453397 KEEP 0 0 0 58 1998 CC 1 1 0 - 10 60 326 0 0 19.465119 225 60 8210 366 ENST00000342711.5 0.042553 1 ATG2A 23130 __UNKNOWN__ __UNKNOWN__ 11 64673869 64673869 __UNKNOWN__ Silent SNP G G A rs116874054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64673869G>A ENST00000377264.3 - 21 3232 c.3120C>T c.(3118-3120)ggC>ggT p.G1040G ATG2A_ENST00000421419.2_Silent_p.G1040G NM_015104.2 NP_055919.2 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1040 NA autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804) extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGGTCCCCGGCCCTGGCCCT 0.657 NA G||| 30 0.00599042 0.0 0.0 5008 , , NA 16028 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 46 56 52 NA NA 11 NA 64673869 2193 4290 6483 SO:0001819 synonymous_variant CCDS31602.1 11q13.1 2014-02-12 2012-06-06 ENSG00000110046 ENSG00000110046 23130 29028 protein-coding gene gene with protein product ATG2 autophagy related 2 homolog A (S. cerevisiae) NA 21887408 Standard NM_015104 NM_015104 NA Approved KIAA0404 uc001obx.3 Q2TAZ0 OTTHUMG00000066831 ENST00000377264.3:c.3120C>T chr11.hg19:g.64673869G>A NA O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7 hg19 CCDS31602.1 0.02 5.747118 CCGxCCC COVERED 19 0.0086996336996337 0 0.0 0 0.0 19 0.033216783216783216 0 0.0 G 9.470 1.095292 0.20471 . . ENSG00000110046 ENST00000418259 . . . 4.68 4.68 0.58851 . . . . . T 0.48409 0.1498 . . . 0.80722 D 1 . . . . . . T 0.62402 -0.6862 4 . . . . 15.5033 0.75716 0.0:0.0:1.0:0.0 . . . . S 842 . . P - 1 0 ATG2A 64430445 0.881000 0.30235 0.984000 0.44739 0.873000 0.50193 0.669000 0.25142 2.329000 0.79093 0.655000 0.94253 CCG NOVEL ATG2A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000143224.1 0 21.964773 KEEP 0 0 0 73 2564 GG 1 1 0 - 9 60 310 0 0 19.449038 187 60 6795 325 ENST00000377264.3 0.045918 1 BATF2 116071 __UNKNOWN__ __UNKNOWN__ 11 64757496 64757496 __UNKNOWN__ Intron SNP C C T rs10897540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64757496C>T ENST00000435842.2 - 1 81 BATF2_ENST00000301887.4_Intron|BATF2_ENST00000527716.1_Intron Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 NA NA defense response to protozoan (GO:0042832)|myeloid dendritic cell differentiation (GO:0043011)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 GGCTCAGATCCGCCTGCTGTC 0.592 NA C||| 876 0.17492 0.1687 0.3098 5008 , , NA 16469 0.2718 NA 0.0437 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092453 CCDS8087.1, CCDS73317.1 11q13.1 2013-01-10 ENSG00000168062 ENSG00000168062 116071 basic leucine zipper proteins 25163 protein-coding gene gene with protein product 614983 NA Standard NM_138456 NM_138456 NA Approved MGC20410 uc001ocf.1 Q8N1L9 OTTHUMG00000165633 ENST00000435842.2:c.113+168G>A chr11.hg19:g.64757496C>T NA D9IC56|Q8NAF4|Q8NAL8|Q96EH4 hg19 0.02 22.978804 ATCxGCC COVERED NOVEL BATF2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000385479.1 4 18.292082 KEEP 0 1 32 72 2450 CC 1 1 0 - 19 60 718 0 0 45.59024 494 60 17090 706 ENST00000435842.2 0.037037 1 RP11-399J13.3 0 __UNKNOWN__ __UNKNOWN__ 11 64803206 64803206 __UNKNOWN__ Intron SNP C C T rs561524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64803206C>T ENST00000301886.3 + 9 1249 SNX15_ENST00000377244.3_Intron|SNX15_ENST00000352068.5_Intron NA NA NA GGCAGAGCCCCACTAGCCTGC 0.602 NA C||| 888 0.177316 0.2806 0.1138 5008 , , NA 18708 0.0813 NA 0.0825 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000301886.3:c.339+71C>T chr11.hg19:g.64803206C>T NA hg19 0.02 1.917989 CCCxACT COVERED NOVEL RP11-399J13.3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000471510.1 0 4.213002 KEEP 0 0 0 14 467 CC 0.995343 0.989075 0 + 5 60 177 0 0 12.4323 60 60 2263 80 ENST00000301886.3 0.076923 0.993703 RP11-399J13.3 0 __UNKNOWN__ __UNKNOWN__ 11 64807136 64807136 __UNKNOWN__ Intron SNP G G A rs2670910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64807136G>A ENST00000301886.3 + 11 1507 SNX15_ENST00000377244.3_Intron|SNX15_ENST00000352068.5_Intron NA NA NA AGGTGCCTCAGCTGAGCATTC 0.602 NA G||| 799 0.159545 0.2337 0.1138 5008 , , NA 18080 0.0565 NA 0.0835 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 G , 783,3617 300.1+/-286.2 67,649,1484 39 32 34 , 3.2 0 11 dbSNP_100 34 633,7959 157.5+/-211.1 24,585,3687 no intron,intron SNX15 NM_013306.4,NM_147777.3 , 91,1234,5171 AA,AG,GG 7.3673,17.7955,10.899 , , 64807136 1416,11576 2200 4296 6496 SO:0001627 intron_variant NA NA NA NA ENST00000301886.3:c.340-22G>A chr11.hg19:g.64807136G>A NA hg19 0.02 8.639163 TCAxCTG COVERED NOVEL RP11-399J13.3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000471510.1 4 29.796246 KEEP 0 0 0 99 3608 GG 1 1 0 + 8 60 290 0 0 17.957634 209 60 8125 420 ENST00000301886.3 0.036866 1 NAALADL1 10004 __UNKNOWN__ __UNKNOWN__ 11 64812857 64812857 __UNKNOWN__ Silent SNP G G A rs35124799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:64812857G>A ENST00000355721.3 - 17 1985 c.1986C>T c.(1984-1986)gcC>gcT p.A662A NAALADL1_ENST00000358658.3_Silent_p.A703A|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000340252.4_Silent_p.A754A|NAALADL1_ENST00000356632.3_Silent_p.A668A|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000526799.1_Silent_p.A50A Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 703 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CTGTGTCCCTGGCCCTGGAGC 0.617 NA G||| 513 0.102436 0.0877 0.0821 5008 , , NA 19616 0.0317 NA 0.0557 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 G 357,4045 176.2+/-205.4 11,335,1855 31 30 31 2109 3.7 0.3 11 dbSNP_126 31 476,8118 136.7+/-193.7 14,448,3835 no coding-synonymous NAALADL1 NM_005468.2 25,783,5690 AA,AG,GG 5.5387,8.11,6.4097 703/741 64812857 833,12163 2201 4297 6498 SO:0001819 synonymous_variant AF010141 CCDS31604.1 11q12 2011-08-16 ENSG00000168060 ENSG00000168060 10004 23536 protein-coding gene gene with protein product ileal peptidase I100 602640 NA 10085079 Standard NM_005468 NM_005468 NA Approved uc001ocn.3 Q9UQQ1 OTTHUMG00000165595 ENST00000355721.3:c.1986C>T chr11.hg19:g.64812857G>A NA C9J8A1|C9J964|C9JL35|C9JSN0|O43176 hg19 CCDS31604.1 0.02 6.915565 CCTxGCC COVERED NOVEL NAALADL1-021 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000385167.1 0 17.758318 KEEP 0 0 0 59 2134 GG 1 1 0 - 9 60 307 0 0 19.893515 156 60 5860 284 ENST00000355721.3 0.054545 1 FRMD8 83786 __UNKNOWN__ __UNKNOWN__ 11 65179436 65179436 __UNKNOWN__ 3'UTR SNP C C T rs3741389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65179436C>T ENST00000317568.5 + 0 2163 FRMD8_ENST00000355991.5_3'UTR NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 NA NA cytoskeleton (GO:0005856) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 GACAGAAACACGGTGAGGGCC 0.637 NA c||| 675 0.134784 0.0908 0.3372 5008 , , NA 16668 0.0655 NA 0.1581 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074850 CCDS8102.1, CCDS73320.1 11q13.1 2007-08-14 ENSG00000126391 ENSG00000126391 83786 25462 protein-coding gene gene with protein product NA 12477932 Standard NM_031904 NM_031904 NA Approved FLJ90369, FKSG44 uc001odu.4 Q9BZ67 OTTHUMG00000166275 ENST00000317568.5:c.*605C>T chr11.hg19:g.65179436C>T NA B4E2P1|Q86V56|Q8NCB5 hg19 CCDS8102.1 0.02 4.433048 ACAxGGT COVERED NOVEL FRMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388833.1 2 4.212389 KEEP 0 0 0 14 441 CC 0.995343 0.995341 0 + 5 60 185 0 0 11.885165 114 60 3664 138 ENST00000317568.5 0.042017 0.999998 NEAT1 283131 __UNKNOWN__ __UNKNOWN__ 11 65211979 65211979 __UNKNOWN__ lincRNA SNP G G A rs12803915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65211979G>A ENST00000384994.1 + 0 51 NR_030343.1 nuclear paraspeckle assembly transcript 1 (non-protein coding) NA NA NA AGCACTAGCAGGAGGGGCTCC 0.647 NA G||| 692 0.138179 0.1021 0.1182 5008 , , NA 15386 0.1429 NA 0.2217 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 G 378,2712 25,328,1192 22 20 20 1.5 0 11 dbSNP_121 20 1436,5686 136,1164,2261 no intergenic 161,1492,3453 AA,AG,GG 20.1629,12.233,17.7634 65211979 1814,8398 1545 3561 5106 AF080092 11q13.1 2013-11-01 2009-07-24 2009-07-24 ENSG00000245532 ENSG00000245532 283131 Long non-coding RNAs, - 30815 non-coding RNA RNA, long non-coding trophoblast derived non-protein coding RNA, nuclear enriched abundant transcript 1, long intergenic non-protein coding RNA 84, virus inducible non-coding RNA 612769 non-protein coding RNA 84 NCRNA00084 NA 9253601, 9858482, 12565840 Standard NR_028272 NR_028272 NA Approved TncRNA, MENepsilon/beta, LINC00084, VINC uc010rog.2 OTTHUMG00000166321 ENST00000384994.1: chr11.hg19:g.65211979G>A NA hg19 0.02 8.856418 GCAxGAG COVERED NOVEL NEAT1-201 KNOWN basic miRNA NA lincRNA 0 36.713671 KEEP 0 0 0 122 4298 GG 1 1 0 + 9 60 310 0 0 19.177089 207 60 7752 422 ENST00000384994.1 0.041667 1 MALAT1 378938 __UNKNOWN__ __UNKNOWN__ 11 65265431 65265431 __UNKNOWN__ lincRNA SNP C C G rs11227209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65265431C>G ENST00000534336.1 + 0 199 NR_002819.2 Q9UHZ2 MALAT_HUMAN metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) NA NA NA TCCTTATAGGCTGGCCATTCC 0.522 NA C||| 56 0.0111821 0.0008 0.0 5008 , , NA 13938 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 0,1748 0,0,874 146 142 143 -4.5 0 11 dbSNP_120 143 1,3975 0,1,1987 no intergenic 0,1,2861 GG,GC,CC 0.0252,0.0,0.0175 65265431 1,5723 874 1988 2862 AF001540 11q13.1 2013-12-11 2007-11-20 ENSG00000251562 ENSG00000251562 378938 Long non-coding RNAs, - 29665 non-coding RNA RNA, long non-coding metastasis associated in lung adenocarcinoma transcript 1, non-protein coding RNA 47, hepcarcin, nuclear enriched abundant transcript 2, nuclear paraspeckle assembly transcript 2 (non-protein coding), long intergenic non-protein coding RNA 47 607924 NA 12970751, 22560368 Standard NR_002819 NR_002819 NA Approved PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA uc010roh.3 Q9UHZ2 OTTHUMG00000166322 ENST00000534336.1: chr11.hg19:g.65265431C>G NA hg19 0.02 11.118831 AGGxTGG COVERED NOVEL MALAT1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000389143.1 0 110.518325 KEEP 0 1 10 371 13423 CC 1 1 0 + 12 60 437 0 0 28.001849 264 60 10036 852 ENST00000534336.1 0.043478 1 LTBP3 4054 __UNKNOWN__ __UNKNOWN__ 11 65319751 65319751 __UNKNOWN__ Missense_Mutation SNP G G A rs11545200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65319751G>A ENST00000301873.5 - 7 1581 c.1313C>T c.(1312-1314)gCg>gTg p.A438V LTBP3_ENST00000536982.1_Missense_Mutation_p.A64V|LTBP3_ENST00000322147.4_Missense_Mutation_p.A438V NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 438 TB 2. NA bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 CTGACACCGCGCGCCCCAGGC 0.637 NA OREG0021081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 315 0.0628994 0.0144 0.0447 5008 , , NA 17993 0.0327 NA 0.0696 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 G VAL/ALA,VAL/ALA,VAL/ALA 92,4310 76.2+/-114.5 1,90,2110 73 77 76 1313,962,1313 4 0.2 11 dbSNP_120 76 619,7975 161.9+/-214.7 26,567,3704 yes missense,missense,missense LTBP3 NM_001130144.2,NM_001164266.1,NM_021070.4 64,64,64 27,657,5814 AA,AG,GG 7.2027,2.09,5.4709 possibly-damaging,possibly-damaging,possibly-damaging 438/1304,321/1140,438/1257 65319751 711,12285 2201 4297 6498 SO:0001583 missense AF135960 CCDS8103.1, CCDS44647.1 11q12 2011-10-20 ENSG00000168056 ENSG00000168056 4054 Latent transforming growth factor, beta binding proteins 6716 protein-coding gene gene with protein product 602090 LTBP2 NA 7719025 Standard NM_021070 NM_001164266 NA Approved uc001oej.3 Q9NS15 OTTHUMG00000166575 ENST00000301873.5:c.1313C>T chr11.hg19:g.65319751G>A ENSP00000301873:p.Ala438Val 1083 O15107|Q96HB9|Q9H7K2|Q9UFN4 hg19 CCDS44647.1 0.02 16.758489 CGCxCGC COVERED 101 0.04624542124542125 8 0.016260162601626018 17 0.04696132596685083 24 0.04195804195804196 52 0.06860158311345646 G 18.97 3.735612 0.69189 0.0209 0.072027 ENSG00000168056 ENST00000322147;ENST00000301873;ENST00000536982;ENST00000530866;ENST00000530426 D;D;D;D;D 0.92348 -3.02;-3.02;-3.02;-3.02;-3.02 3.99 3.99 0.46301 Matrix fibril-associated (3);TGF-beta binding (1); 0.364335 0.28214 N 0.016174 T 0.47948 0.1473 N 0.14661 0.345 0.80722 P 0.0 D;D;D;D;D 0.69078 0.992;0.995;0.983;0.996;0.997 P;P;P;P;P 0.54312 0.732;0.748;0.532;0.732;0.692 T 0.78612 -0.2136 9 0.40728 T 0.16 . 13.6128 0.62091 0.0:0.0:1.0:0.0 rs11545200 349;64;321;438;438 E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2 .;.;.;LTBP3_HUMAN;. V 438;438;64;349;118 ENSP00000326647:A438V;ENSP00000301873:A438V;ENSP00000441912:A64V;ENSP00000435276:A349V;ENSP00000432476:A118V ENSP00000301873:A438V A - 2 0 LTBP3 65076327 0.007000 0.16637 0.213000 0.23690 0.986000 0.74619 1.747000 0.38298 2.064000 0.61679 0.407000 0.27541 GCG NOVEL LTBP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390538.1 5 69.149038 KEEP 0 0 0 230 8007 GG 1 1 0 - 16 60 535 0 0 30.494933 479 60 17246 921 ENST00000301873.5 0.032323 1 SSSCA1-AS1 254100 __UNKNOWN__ __UNKNOWN__ 11 65337251 65337251 __UNKNOWN__ RNA SNP A A T rs1346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65337251A>T ENST00000567594.1 - 0 493 NR_038923.1 SSSCA1 antisense RNA 1 (head to head) NA NA NA GGGCGGCTGGAAGCGCAATGC 0.562 NA A||| 665 0.132788 0.0832 0.1138 5008 , , NA 16758 0.1825 NA 0.1859 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 11q13.1 2013-05-31 2013-05-31 ENSG00000260233 ENSG00000260233 254100 Long non-coding RNAs 27384 non-coding RNA RNA, long non-coding NA Standard NR_038923 NA Approved OTTHUMG00000166387 ENST00000567594.1: chr11.hg19:g.65337251A>T NA hg19 0.02 5.589477 TGGxAGC COVERED NOVEL SSSCA1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000389510.2 3 37.745191 KEEP 0 1 27 135 4238 AA 1 1 0 - 9 60 283 0 0 17.648399 148 60 5074 355 ENST00000567594.1 0.057325 1 SSSCA1-AS1 254100 __UNKNOWN__ __UNKNOWN__ 11 65337714 65337714 __UNKNOWN__ RNA SNP G G T rs1784220|rs67320324|rs386754390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65337714G>T ENST00000567594.1 - 0 30 NR_038923.1 SSSCA1 antisense RNA 1 (head to head) NA NA NA AGTTACCAAGGAGACGCTCCT 0.642 NA G||| 1496 0.298722 0.4675 0.1902 5008 , , NA 17618 0.2133 NA 0.2565 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 11q13.1 2013-05-31 2013-05-31 ENSG00000260233 ENSG00000260233 254100 Long non-coding RNAs 27384 non-coding RNA RNA, long non-coding NA Standard NR_038923 NA Approved OTTHUMG00000166387 ENST00000567594.1: chr11.hg19:g.65337714G>T NA hg19 0.02 1.789302 AAGxAGA COVERED NOVEL SSSCA1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000389510.2 3 12.038129 KEEP 0 0 0 40 1359 GG 1 0.981955 0 - 4 60 140 0 0 9.621786 53 60 1897 100 ENST00000567594.1 0.070175 0.981955 SSSCA1-AS1 254100 __UNKNOWN__ __UNKNOWN__ 11 65337715 65337715 __UNKNOWN__ RNA SNP A A T rs59286748|rs67320324|rs386754390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65337715A>T ENST00000567594.1 - 0 29 NR_038923.1 SSSCA1 antisense RNA 1 (head to head) NA NA NA GTTACCAAGGAGACGCTCCTC 0.642 NA A||| 1495 0.298522 0.4667 0.1902 5008 , , NA 17555 0.2133 NA 0.2565 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 11q13.1 2013-05-31 2013-05-31 ENSG00000260233 ENSG00000260233 254100 Long non-coding RNAs 27384 non-coding RNA RNA, long non-coding NA Standard NR_038923 NA Approved OTTHUMG00000166387 ENST00000567594.1: chr11.hg19:g.65337715A>T NA hg19 0.02 2.005779 AGGxGAC COVERED NOVEL SSSCA1-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000389510.2 3 12.033222 KEEP 0 0 0 40 1197 AA 1 0.976865 0 - 4 60 144 0 0 10.08466 51 60 1824 98 ENST00000567594.1 0.072727 0.976865 SSSCA1 10534 __UNKNOWN__ __UNKNOWN__ 11 65338034 65338034 __UNKNOWN__ Intron SNP A A G rs1151496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65338034A>G ENST00000309328.3 + 2 81 SSSCA1_ENST00000526877.1_Intron|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000531405.1_5'UTR NM_006396.1 NP_006387.1 O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 NA NA mitotic nuclear division (GO:0007067) kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 GAGGCAGCCCACTCCGGCAAG 0.667 NA G||| 1495 0.298522 0.4675 0.1902 5008 , , NA 15355 0.2133 NA 0.2565 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 G 1917,2485 624.4+/-394.3 408,1101,692 53 59 57 0.1 0 11 dbSNP_87 57 2303,6291 704.0+/-405.4 326,1651,2320 no intron SSSCA1 NM_006396.1 734,2752,3012 GG,GA,AA 26.7978,43.5484,32.4715 65338034 4220,8776 2201 4297 6498 SO:0001627 intron_variant AB001740 CCDS8104.1 11q13.1 2007-10-04 2007-10-04 ENSG00000173465 10534 11328 protein-coding gene gene with protein product 606044 Sjogren's syndrome/scleroderma autoantigen 1 NA 9486406 Standard NM_006396 NM_006396 NA Approved p27 uc001oek.3 O60232 ENST00000309328.3:c.20-41A>G chr11.hg19:g.65338034A>G NA hg19 CCDS8104.1 0.02 7.668132 CCCxCTC COVERED NOVEL SSSCA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389511.1 2 76.265855 KEEP 0 2 38 267 8075 AA 1 1 0 + 13 60 429 0 0 27.221071 225 60 7915 672 ENST00000309328.3 0.054622 1 SSSCA1 10534 __UNKNOWN__ __UNKNOWN__ 11 65339346 65339346 __UNKNOWN__ 3'UTR SNP C C T rs1194104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65339346C>T ENST00000531405.1 + 0 866 SSSCA1_ENST00000527920.1_Intron O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 NA NA mitotic nuclear division (GO:0007067) kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 CTCCACTCTGCTCTCCTTGAC 0.507 NA OREG0021082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1494 0.298323 0.4667 0.1902 5008 , , NA 18848 0.2133 NA 0.2565 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB001740 CCDS8104.1 11q13.1 2007-10-04 2007-10-04 ENSG00000173465 10534 11328 protein-coding gene gene with protein product 606044 Sjogren's syndrome/scleroderma autoantigen 1 NA 9486406 Standard NM_006396 NM_006396 NA Approved p27 uc001oek.3 O60232 ENST00000531405.1:c.*141C>T chr11.hg19:g.65339346C>T 1083 hg19 0.02 14.829966 CTGxTCT COVERED NOVEL SSSCA1-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000390063.1 3 76.149786 KEEP 0 0 0 253 9235 CC 1 1 0 + 14 60 510 0 0 31.559794 372 60 14251 820 ENST00000531405.1 0.036269 1 EHBP1L1 254102 __UNKNOWN__ __UNKNOWN__ 11 65359435 65359435 __UNKNOWN__ Intron SNP T T G rs3829939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65359435T>G ENST00000309295.4 + 18 4622 EHBP1L1_ENST00000533364.1_Intron|AP001362.1_ENST00000597463.1_Intron|EHBP1L1_ENST00000529596.1_Intron NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 NA NA membrane (GO:0016020) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 GCTTAGCCGCTTCGACCCTCA 0.662 NA T||| 539 0.107628 0.3026 0.0375 5008 , , NA 9883 0.1032 NA 0.005 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 T 992,3150 121,750,1200 36 43 41 -3.3 0 11 dbSNP_107 41 36,8328 0,36,4146 no intron EHBP1L1 NM_001099409.1 121,786,5346 GG,GT,TT 0.4304,23.9498,8.2201 65359435 1028,11478 2071 4182 6253 SO:0001627 intron_variant AL834433 CCDS44649.1 11q13.1 2008-02-05 ENSG00000173442 ENSG00000173442 254102 30682 protein-coding gene gene with protein product NA Standard XM_170658 NM_001099409 NA Approved DKFZp762C186, TANGERIN uc001oeo.4 Q8N3D4 OTTHUMG00000166520 ENST00000309295.4:c.4358-12T>G chr11.hg19:g.65359435T>G NA Q8TB89|Q9H7M7 hg19 CCDS44649.1 0.02 7.766456 CGCxTCG COVERED NOVEL EHBP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390145.1 1 43.926521 KEEP 0 0 0 146 4511 TT 1 1 0 + 11 60 359 0 0 21.825703 227 60 8299 485 ENST00000309295.4 0.046218 1 KCNK7 10089 __UNKNOWN__ __UNKNOWN__ 11 65363399 65363399 __UNKNOWN__ 5'UTR SNP T T G rs11227233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65363399T>G ENST00000340313.4 - 0 68 KCNK7_ENST00000394217.2_5'UTR|KCNK7_ENST00000394216.2_5'UTR NM_033347.1 NP_203133.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 NA NA potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244) endometrium(1)|liver(1)|lung(1) 3 GGAGGTGAGCTGCATCACCCT 0.677 NA T||| 133 0.0265575 0.0 0.0 5008 , , NA 13959 0.1141 NA 0.0 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF110522 CCDS8106.1, CCDS31608.1, CCDS41673.1 11q13 2012-03-07 ENSG00000173338 ENSG00000173338 10089 Potassium channels, Voltage-gated ion channels / Potassium channels, Two-P 6282 protein-coding gene gene with protein product 603940 NA 10206991, 11256078, 16382106 Standard NM_005714 NM_033347 NA Approved K2p7.1 uc001oes.3 Q9Y2U2 OTTHUMG00000166528 ENST00000340313.4:c.-156A>C chr11.hg19:g.65363399T>G NA Q3SYI2|Q9Y2U3|Q9Y2U4 hg19 CCDS31608.1 0.02 1.954477 AGCxGCA COVERED NOVEL KCNK7-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390206.1 0 10.529657 KEEP 0 0 0 35 1066 TT 0.999999 0.999918 0 - 6 60 197 0 0 12.853016 89 60 3123 173 ENST00000340313.4 0.063158 0.999919 MAP3K11 4296 __UNKNOWN__ __UNKNOWN__ 11 65380385 65380385 __UNKNOWN__ Intron SNP G G C rs11227240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65380385G>C ENST00000309100.3 - 1 1225 NM_002419.3 NP_002410.1 mitogen-activated protein kinase kinase kinase 11 NA NA breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CCCCTAGGGTGGGAGCTCCTA 0.627 NA G||| 122 0.024361 0.0023 0.0 5008 , , NA 17427 0.1161 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8107.1 11q13.1-q13.3 2011-06-09 ENSG00000173327 ENSG00000173327 4296 2.7.10.1 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6850 protein-coding gene gene with protein product 600050 MLK3, PTK1 NA 9267807, 8183572 Standard NM_002419 NA Approved SPRK, MEKK11 uc001oew.3 Q16584 OTTHUMG00000166529 ENST00000309100.3:c.739+103C>G chr11.hg19:g.65380385G>C NA hg19 CCDS8107.1 0.02 6.173322 GGTxGGA COVERED NOVEL MAP3K11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390209.3 2 15.047507 KEEP 0 0 0 50 1708 GG 1 1 0 - 8 60 272 0 0 17.030052 162 60 5842 258 ENST00000309100.3 0.047059 1 PCNXL3 399909 __UNKNOWN__ __UNKNOWN__ 11 65387378 65387378 __UNKNOWN__ Silent SNP T T A rs61744384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65387378T>A ENST00000355703.3 + 8 2522 c.1983T>A c.(1981-1983)gcT>gcA p.A661A NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 661 NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CTGAGGGTGCTGTGCACTATT 0.612 NA T||| 2062 0.411741 0.2065 0.3228 5008 , , NA 19233 0.4355 NA 0.4672 False NA ,,, NA NA NA 2504 0.6708 NA NA NA NA 0 T 1012,3214 128,756,1229 53 52 52 1983 -3.8 0.6 11 dbSNP_129 52 3728,4694 836,2056,1319 no coding-synonymous PCNXL3 NM_032223.2 964,2812,2548 AA,AT,TT 44.265,23.947,37.4763 661/2035 65387378 4740,7908 2113 4211 6324 SO:0001819 synonymous_variant BX640978 CCDS44650.1 11q12.1 2008-07-21 ENSG00000197136 ENSG00000197136 399909 18760 protein-coding gene gene with protein product NA 15146197 Standard NM_032223 NM_032223 NA Approved FLJ22427 uc001oey.2 Q9H6A9 OTTHUMG00000166539 ENST00000355703.3:c.1983T>A chr11.hg19:g.65387378T>A NA Q6MZN8 hg19 CCDS44650.1 0.02 13.305725 TGCxGTG COVERED NOVEL PCNXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390321.1 1 32.464247 KEEP 0 2 63 130 4075 TT 1 1 0 + 16 60 602 0 0 39.971459 317 60 11795 591 ENST00000355703.3 0.048048 1 PCNXL3 399909 __UNKNOWN__ __UNKNOWN__ 11 65392695 65392695 __UNKNOWN__ Silent SNP C C T rs1205259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65392695C>T ENST00000355703.3 + 17 3512 c.2973C>T c.(2971-2973)ctC>ctT p.L991L NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 991 NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 TCTGTGGCCTCCTGGTGGCAC 0.632 NA C||| 1178 0.235224 0.3245 0.2421 5008 , , NA 13681 0.1349 NA 0.337 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 C 1463,2935 241,981,977 45 48 47 2973 2.6 1 11 dbSNP_87 47 2975,5607 519,1937,1835 no coding-synonymous PCNXL3 NM_032223.2 760,2918,2812 TT,TC,CC 34.6656,33.2651,34.1911 991/2035 65392695 4438,8542 2199 4291 6490 SO:0001819 synonymous_variant BX640978 CCDS44650.1 11q12.1 2008-07-21 ENSG00000197136 ENSG00000197136 399909 18760 protein-coding gene gene with protein product NA 15146197 Standard NM_032223 NM_032223 NA Approved FLJ22427 uc001oey.2 Q9H6A9 OTTHUMG00000166539 ENST00000355703.3:c.2973C>T chr11.hg19:g.65392695C>T NA Q6MZN8 hg19 CCDS44650.1 0.02 13.963236 CCTxCTG COVERED NOVEL PCNXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390321.1 1 38.824123 KEEP 0 0 0 129 4521 CC 1 1 0 + 12 60 428 0 0 25.217318 382 60 14119 659 ENST00000355703.3 0.030457 1 PCNXL3 399909 __UNKNOWN__ __UNKNOWN__ 11 65404646 65404646 __UNKNOWN__ 3'UTR SNP G G A rs76759746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65404646G>A ENST00000355703.3 + 0 6841 NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCCCAGTCCAGGGCCTGGGCT 0.612 NA G||| 115 0.0229633 0.0023 0.0 5008 , , NA 15808 0.1091 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX640978 CCDS44650.1 11q12.1 2008-07-21 ENSG00000197136 ENSG00000197136 399909 18760 protein-coding gene gene with protein product NA 15146197 Standard NM_032223 NM_032223 NA Approved FLJ22427 uc001oey.2 Q9H6A9 OTTHUMG00000166539 ENST00000355703.3:c.*197G>A chr11.hg19:g.65404646G>A NA Q6MZN8 hg19 CCDS44650.1 0.02 19.113931 CCAxGGC COVERED NOVEL PCNXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390321.1 5 58.690074 KEEP 0 0 0 195 7004 GG 1 1 0 + 13 60 479 0 0 28.356696 452 60 16855 864 ENST00000355703.3 0.027957 1 PCNXL3 399909 __UNKNOWN__ __UNKNOWN__ 11 65404825 65404825 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65404825C>T ENST00000355703.3 + 0 7020 NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) NA NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 AGGGTGGtttctttctttcct 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX640978 CCDS44650.1 11q12.1 2008-07-21 ENSG00000197136 ENSG00000197136 399909 18760 protein-coding gene gene with protein product NA 15146197 Standard NM_032223 NM_032223 NA Approved FLJ22427 uc001oey.2 Q9H6A9 OTTHUMG00000166539 ENST00000355703.3:c.*376C>T chr11.hg19:g.65404825C>T NA Q6MZN8 hg19 CCDS44650.1 0.02 0.805099 TTTxTTT COVERED NOVEL PCNXL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390321.1 1 2.536528 KEEP 0 1 24 17 546 CC 0.999859 0.996092 0 + 12 60 151 0 0 7.505471 55 60 1951 112 ENST00000355703.3 0.179104 0.996233 OVOL1 5017 __UNKNOWN__ __UNKNOWN__ 11 65561732 65561732 __UNKNOWN__ Intron SNP G G C rs12226258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65561732G>C ENST00000335987.3 + 2 670 OVOL1_ENST00000532448.1_Intron NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 NA NA cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) AATGCCACTCGCGCTGTCTCC 0.607 NA G||| 154 0.0307508 0.0 0.0014 5008 , , NA 20570 0.1488 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G 0,4402 0,0,2201 44 42 42 -8.6 0 11 dbSNP_120 42 7,8585 5.7+/-21.5 0,7,4289 no intron OVOL1 NM_004561.3 0,7,6490 CC,CG,GG 0.0815,0.0,0.0539 65561732 7,12987 2201 4296 6497 SO:0001627 intron_variant BC059408 CCDS8112.1 11q13 2013-10-17 2013-10-17 ENSG00000172818 ENSG00000172818 5017 Zinc fingers, C2H2-type 8525 protein-coding gene gene with protein product 602313 ovo (Drosophila) homolog-like 1, ovo-like 1(Drosophila) NA 9383297 Standard NM_004561 NM_004561 NA Approved HOVO1 uc001ofp.3 O14753 OTTHUMG00000166600 ENST00000335987.3:c.318+13G>C chr11.hg19:g.65561732G>C NA Q6PCB1 hg19 CCDS8112.1 0.02 18.060706 CTCxCGC COVERED NOVEL OVOL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390690.1 3 19.262976 KEEP 0 0 0 64 2276 GG 1 1 0 + 12 60 434 0 0 25.127445 437 60 15664 640 ENST00000335987.3 0.026726 1 PACS1 55690 __UNKNOWN__ __UNKNOWN__ 11 65978796 65978796 __UNKNOWN__ Intron SNP C C T rs75192352 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:65978796C>T ENST00000320580.4 + 4 693 NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 NA NA protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829) ion channel binding (GO:0044325) RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CACCCCAGCCCAGCCAGTTGA 0.498 NA C||| 340 0.0678914 0.1241 0.0274 5008 , , NA 17453 0.1548 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033001 CCDS8129.1 11q13.1-q13.2 2008-02-05 ENSG00000175115 ENSG00000175115 55690 30032 protein-coding gene gene with protein product 607492 NA 12855553, 14608369 Standard NM_018026 NM_018026 NA Approved FLJ10209, KIAA1175 uc001oha.2 Q6VY07 OTTHUMG00000166889 ENST00000320580.4:c.660+66C>T chr11.hg19:g.65978796C>T NA Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5 hg19 CCDS8129.1 0.02 4.143983 GCCxAGC COVERED NOVEL PACS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391690.2 1 4.213679 KEEP 0 0 0 14 487 CC 0.995343 0.995343 0 + 7 60 261 0 0 17.628377 122 60 4675 150 ENST00000320580.4 0.054264 1 TMEM151A 256472 __UNKNOWN__ __UNKNOWN__ 11 66063654 66063654 __UNKNOWN__ 3'UTR SNP C C T rs12418822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66063654C>T ENST00000327259.4 + 0 2081 NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|kidney(4)|lung(6) 11 CCCTGATAGGCCCCTCCTCCT 0.647 NA C||| 446 0.0890575 0.0038 0.2954 5008 , , NA 18999 0.1567 NA 0.0457 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC033898 CCDS8133.1 11q13.2 2007-10-25 2007-10-25 2007-10-25 ENSG00000179292 ENSG00000179292 256472 28497 protein-coding gene gene with protein product transmembrane protein 151 TMEM151 NA 12477932 Standard NM_153266 NM_153266 NA Approved MGC33486 uc001ohl.3 Q8N4L1 OTTHUMG00000166920 ENST00000327259.4:c.*530C>T chr11.hg19:g.66063654C>T NA Q8ND14 hg19 CCDS8133.1 0.02 26.635332 AGGxCCC COVERED NOVEL TMEM151A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391897.1 5 22.573794 KEEP 0 0 0 75 2683 CC 1 1 0 + 24 60 816 0 0 48.728221 627 60 23025 891 ENST00000327259.4 0.036866 1 BRMS1 25855 __UNKNOWN__ __UNKNOWN__ 11 66105194 66105194 __UNKNOWN__ 3'UTR SNP G G A rs1052566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66105194G>A ENST00000359957.3 - 0 1060 RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.A273V NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 NA NA apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) NF-kappaB binding (GO:0051059) large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 AGGAGTCCAGGCCAGTGCCAG 0.682 NA G||| 1336 0.266773 0.034 0.2161 5008 , , NA 17840 0.3284 NA 0.2714 False NA ,,, NA NA NA 2504 0.5491 NA NA NA GBM(7;55 307 2662 20856 28942) NA 0 G ,VAL/ALA 356,4040 20,316,1862 22 28 26 ,818 -4.2 0 11 dbSNP_86 26 2563,6027 379,1805,2111 yes utr-3,missense BRMS1 NM_015399.3,NM_001024957.1 ,64 399,2121,3973 AA,AG,GG 29.837,8.0983,22.4781 ,benign ,273/291 66105194 2919,10067 2198 4295 6493 SO:0001624 3_prime_UTR_variant AF147350 CCDS8135.1, CCDS44654.1 11q13-q13.2 2008-02-05 ENSG00000174744 25855 17262 protein-coding gene gene with protein product 606259 NA 10850410 Standard NM_015399 XM_005273883 NA Approved DKFZP564A063 uc001oho.1 Q9HCU9 ENST00000359957.3:c.*159C>T chr11.hg19:g.66105194G>A NA Q6IAI2 hg19 CCDS8135.1 0.02 1.924611 CAGxCCA COVERED 508 0.2326007326007326 20 0.04065040650406504 88 0.2430939226519337 188 0.32867132867132864 212 0.2796833773087071 G 1.743 -0.491122 0.04322 0.080983 0.29837 ENSG00000174744 ENST00000425825 . . . 2.79 -4.24 0.03777 . . . . . T 0.00012 0.0000 N 0.00926 -1.1 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.44802 -0.9304 7 0.29301 T 0.29 . 4.6989 0.12818 0.4247:0.1659:0.4094:0.0 rs1052566;rs3178148;rs3192977 273 G5E9I4 . V 273 . ENSP00000396052:A273V A - 2 0 BRMS1 65861770 0.001000 0.12720 0.000000 0.03702 0.317000 0.28152 -0.952000 0.03881 -0.973000 0.03555 0.400000 0.26472 GCC NOVEL BRMS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392958.2 0 4.21383 KEEP 0 0 0 14 501 GG 0.995343 0.99507 0 - 10 60 360 0 0 27.348893 76 60 2748 109 ENST00000359957.3 0.116279 0.999726 NPAS4 266743 __UNKNOWN__ __UNKNOWN__ 11 66191310 66191310 __UNKNOWN__ Missense_Mutation SNP A A C rs76159120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66191310A>C ENST00000311034.2 + 7 1125 c.949A>C c.(949-951)Atg>Ctg p.M317L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 317 PAC. NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|signal transducer activity (GO:0004871) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTCCAGTGACATGGAAGCCTG 0.567 NA A||| 11 0.00219649 0.0 0.0 5008 , , NA 19189 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 67 68 67 NA NA 11 NA 66191310 2200 4295 6495 SO:0001583 missense AB049469 CCDS8138.1 11q13.2 2013-05-21 ENSG00000174576 ENSG00000174576 266743 Basic helix-loop-helix proteins 18983 protein-coding gene gene with protein product 608554 NA 14701734 Standard NM_178864 NM_178864 NA Approved PASD10, NXF, Le-PAS, bHLHe79 uc001ohx.1 Q8IUM7 OTTHUMG00000167045 ENST00000311034.2:c.949A>C chr11.hg19:g.66191310A>C ENSP00000311196:p.Met317Leu NA B7ZL81|Q8N8S5|Q8N9Q9 hg19 CCDS8138.1 0.02 16.919163 GACxTGG COVERED 9 0.004120879120879121 0 0.0 0 0.0 9 0.015734265734265736 0 0.0 A 8.072 0.770369 0.15983 . . ENSG00000174576 ENST00000311034 T 0.39787 1.06 4.71 -0.638 0.11500 . 0.919920 0.09131 N 0.844415 T 0.08980 0.0222 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.17018 -1.0383 10 0.28530 T 0.3 2.9529 2.0611 0.03592 0.2428:0.1235:0.095:0.5387 . 317 Q8IUM7 NPAS4_HUMAN L 317 ENSP00000311196:M317L ENSP00000311196:M317L M + 1 0 NPAS4 65947886 0.000000 0.05858 0.411000 0.26484 0.991000 0.79684 -0.260000 0.08708 -0.198000 0.10333 0.459000 0.35465 ATG NOVEL NPAS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392634.1 1 35.06786 KEEP 0 1 9 120 3728 AA 1 1 0 + 13 60 490 0 0 30.874084 351 60 13006 618 ENST00000311034.2 0.035714 1 CTSF 8722 __UNKNOWN__ __UNKNOWN__ 11 66333643 66333643 __UNKNOWN__ Intron SNP G G A rs78871927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66333643G>A ENST00000310325.5 - 6 831 NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982) cysteine-type endopeptidase activity (GO:0004197) p.?(1) endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CCTCCTCTGCGGGCAAAGGTG 0.572 NA G||| 354 0.0706869 0.003 0.0591 5008 , , NA 19731 0.128 NA 0.0835 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 1 Unknown(1) stomach(1) G 76,4324 66.4+/-103.9 0,76,2124 99 99 99 -0.7 0 11 dbSNP_131 99 644,7946 164.9+/-217.2 23,598,3674 no intron CTSF NM_003793.3 23,674,5798 AA,AG,GG 7.4971,1.7273,5.5427 66333643 720,12270 2200 4295 6495 SO:0001627 intron_variant AF071749 CCDS8144.1 11q13.2 2012-02-29 ENSG00000174080 ENSG00000174080 8722 Cathepsins 2531 protein-coding gene gene with protein product 603539 NA 9822672, 10318784 Standard NM_003793 NM_003793 NA Approved CATSF, CLN13 uc001oip.3 Q9UBX1 OTTHUMG00000167090 ENST00000310325.5:c.722-5C>T chr11.hg19:g.66333643G>A NA B2R964|O95240|Q9NSU4|Q9UKQ5 hg19 CCDS8144.1 0.02 16.156219 TGCxGGC COVERED NOVEL CTSF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393047.1 1 24.066604 KEEP 0 0 0 80 2646 GG 1 1 0 - 13 60 497 0 0 31.634678 346 60 12158 542 ENST00000310325.5 0.036212 1 CTSF 8722 __UNKNOWN__ __UNKNOWN__ 11 66333715 66333715 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66333715G>A ENST00000310325.5 - 5 831 NM_003793.3 NP_003784.2 Q9UBX1 CATF_HUMAN cathepsin F NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982) cysteine-type endopeptidase activity (GO:0004197) endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TGCGAGCAAGGTCCTGTCTCT 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 94 85 88 NA NA 11 NA 66333715 2200 4295 6495 SO:0001627 intron_variant AF071749 CCDS8144.1 11q13.2 2012-02-29 ENSG00000174080 ENSG00000174080 8722 Cathepsins 2531 protein-coding gene gene with protein product 603539 NA 9822672, 10318784 Standard NM_003793 NM_003793 NA Approved CATSF, CLN13 uc001oip.3 Q9UBX1 OTTHUMG00000167090 ENST00000310325.5:c.721+46C>T chr11.hg19:g.66333715G>A NA B2R964|O95240|Q9NSU4|Q9UKQ5 hg19 CCDS8144.1 0.02 12.479698 AAGxTCC COVERED NOVEL CTSF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393047.1 2 19.543467 KEEP 0 0 0 65 2287 GG 1 1 0 - 11 60 399 0 0 24.293298 314 60 11456 466 ENST00000310325.5 0.033846 1 RBM14-RBM4 100526737 __UNKNOWN__ __UNKNOWN__ 11 66408033 66408033 __UNKNOWN__ Intron SNP C C G rs575797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66408033C>G ENST00000412278.2 + 2 432 RBM4_ENST00000514361.3_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000409406.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000483858.1_3'UTR|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000310092.7_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron NM_001198845.1 NP_001185774.1 RBM14-RBM4 readthrough NA NA NA GACCAGAATCCTTGTTAAGCT 0.383 NA C||| 316 0.063099 0.003 0.0519 5008 , , NA 18227 0.131 NA 0.0557 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS55774.1, CCDS55775.1 11q13.2 2014-03-14 ENSG00000248643 ENSG00000248643 100526737 38840 other readthrough NA Standard NM_001198845.1 NM_001198845 NA Approved OTTHUMG00000160813 ENST00000412278.2:c.338-2888C>G chr11.hg19:g.66408033C>G NA hg19 CCDS55774.1 0.02 4.366804 ATCxTTG COVERED NOVEL RBM14-RBM4-004 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000394033.1 1 21.068572 KEEP 0 0 0 70 2495 CC 1 0.999997 0 + 5 60 182 0 0 11.657317 110 60 4210 225 ENST00000412278.2 0.043478 0.999997 SPTBN2 6712 __UNKNOWN__ __UNKNOWN__ 11 66452839 66452839 __UNKNOWN__ 3'UTR SNP A A C rs144473441 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66452839A>C ENST00000533211.1 - 0 8007 SPTBN2_ENST00000529997.1_3'UTR|SPTBN2_ENST00000309996.2_3'UTR O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 NA NA actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091) actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CTGGAGTTACAGGGTGGGGGT 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB008567, AF026487, AF026488, AF079569 CCDS8150.1 11q13.2 2013-01-10 ENSG00000173898 ENSG00000173898 6712 Pleckstrin homology (PH) domain containing 11276 protein-coding gene gene with protein product 604985 spinocerebellar ataxia 5 SCA5 NA 9826670, 16429157 Standard NM_006946 NM_006946 NA Approved uc001ojd.3 O15020 OTTHUMG00000167262 ENST00000533211.1:c.*503T>G chr11.hg19:g.66452839A>C NA O14872|O14873 hg19 CCDS8150.1 0.02 11.272072 TACxGGG COVERED NOVEL SPTBN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393892.2 2 15.041677 KEEP 0 0 0 50 1488 AA 1 1 0 - 12 60 371 0 0 21.230363 292 60 9903 429 ENST00000533211.1 0.039474 1 SPTBN2 6712 __UNKNOWN__ __UNKNOWN__ 11 66458980 66458980 __UNKNOWN__ Silent SNP G G A rs623022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66458980G>A ENST00000533211.1 - 27 5671 c.5340C>T c.(5338-5340)aaC>aaT p.N1780N SPTBN2_ENST00000529997.1_Silent_p.N1780N|SPTBN2_ENST00000309996.2_Silent_p.N1780N O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1780 NA actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091) actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200) autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCCAGGCCTCGTTGAGACTGT 0.677 NA G||| 316 0.063099 0.003 0.0533 5008 , , NA 17128 0.1329 NA 0.0557 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 G 46,4354 45.3+/-79.5 0,46,2154 53 42 46 5340 -2.7 1 11 dbSNP_83 46 427,8163 129.3+/-187.4 13,401,3881 no coding-synonymous SPTBN2 NM_006946.2 13,447,6035 AA,AG,GG 4.9709,1.0455,3.6413 1780/2391 66458980 473,12517 2200 4295 6495 SO:0001819 synonymous_variant AB008567, AF026487, AF026488, AF079569 CCDS8150.1 11q13.2 2013-01-10 ENSG00000173898 ENSG00000173898 6712 Pleckstrin homology (PH) domain containing 11276 protein-coding gene gene with protein product 604985 spinocerebellar ataxia 5 SCA5 NA 9826670, 16429157 Standard NM_006946 NM_006946 NA Approved uc001ojd.3 O15020 OTTHUMG00000167262 ENST00000533211.1:c.5340C>T chr11.hg19:g.66458980G>A NA O14872|O14873 hg19 CCDS8150.1 0.02 13.391305 CTCxTTG COVERED NOVEL SPTBN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393892.2 1 27.387357 KEEP 0 0 0 91 3130 GG 1 1 0 - 9 60 339 0 0 20.493961 303 60 10480 504 ENST00000533211.1 0.028846 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 66502457 66502457 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66502457A>G NA NA SPTBN2 (6027 upstream) : C11orf80 (9749 downstream) NA NA NA GATGATACAGAGAGATCAAAG 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.66502457A>G NA hg19 0.02 -0.245652 CAGxGAG COVERED NOVEL 0 0 3.009232 KEEP 0 0 0 10 315 AA 0.992708 0.63667 0 3 60 105 0 0 7.791624 25 60 931 44 0.107143 0.641347 PC 5091 __UNKNOWN__ __UNKNOWN__ 11 66620121 66620121 __UNKNOWN__ Silent SNP C C T rs35235415 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:66620121C>T ENST00000393958.2 - 14 1707 c.1614G>A c.(1612-1614)ccG>ccA p.P538P PC_ENST00000393960.1_Silent_p.P538P|PC_ENST00000393955.2_Silent_p.P538P NM_000920.3 NP_000911.2 P11498 PYC_HUMAN pyruvate carboxylase 538 NA biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736) cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TGAAACCAGCCGGGGGCGGGC 0.622 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 16995 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 29 36 34 NA NA 11 NA 66620121 2200 4295 6495 SO:0001819 synonymous_variant U04641 CCDS8152.1 11q13.4-q13.5 2012-07-11 ENSG00000173599 ENSG00000173599 5091 6.4.1.1 8636 protein-coding gene gene with protein product 608786 NA 6548474 Standard NM_001040716 NM_022172 NA Approved PCB uc001ojn.1 P11498 OTTHUMG00000167099 ENST00000393958.2:c.1614G>A chr11.hg19:g.66620121C>T NA B4DN00|Q16705 hg19 CCDS8152.1 0.02 12.390747 AGCxGGG COVERED NOVEL PC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393115.1 0 21.276544 KEEP 0 1 32 82 2770 CC 1 1 0 - 10 60 361 0 0 21.829428 291 60 10147 434 ENST00000393958.2 0.033223 1 SSH3 54961 __UNKNOWN__ __UNKNOWN__ 11 67079940 67079940 __UNKNOWN__ 3'UTR SNP G G A rs563984413 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67079940G>A ENST00000308127.4 + 0 2740 SSH3_ENST00000308298.7_3'UTR|SSH3_ENST00000376757.5_3'UTR NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 NA NA protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GTGACACCACGCCAGATCACA 0.567 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 16889 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF085851 CCDS8157.1 11q13 2013-03-05 2013-03-05 ENSG00000172830 ENSG00000172830 54961 Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots 30581 protein-coding gene gene with protein product 606780 slingshot homolog 3 (Drosophila) NA 11832213 Standard NM_018276 NM_017857 NA Approved FLJ20515, FLJ10928 uc001okj.3 Q8TE77 OTTHUMG00000167105 ENST00000308127.4:c.*582G>A chr11.hg19:g.67079940G>A NA Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7 hg19 CCDS8157.1 0.02 6.859311 CACxCCA COVERED NOVEL SSH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393167.1 1 10.53397 KEEP 0 0 0 35 1221 GG 0.999999 0.999999 0 + 8 60 290 0 0 19.028474 152 60 5508 233 ENST00000308127.4 0.05 1 PPP1CA 5499 __UNKNOWN__ __UNKNOWN__ 11 67166721 67166721 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67166721A>C ENST00000376745.4 - 5 672 PPP1CA_ENST00000358239.4_Intron|PPP1CA_ENST00000532446.1_Intron|PPP1CA_ENST00000312989.7_Intron NM_001008709.1|NM_002708.3 NP_001008709.1|NP_002699.1 P62136 PP1A_HUMAN protein phosphatase 1, catalytic subunit, alpha isozyme NA NA branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357) metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021) breast(1)|lung(2)|pancreas(1)|urinary_tract(3) 7 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CTTTCCCACCACCCTCCTGGT 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8160.1, CCDS8161.1, CCDS31618.1 11q13 2013-01-18 2010-03-05 ENSG00000172531 5499 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase, catalytic subunits 9281 protein-coding gene gene with protein product 176875 protein phosphatase 1, catalytic subunit, alpha isoform PPP1A NA Standard NM_002708 NM_002708 NA Approved PP1A, PP-1A, PP1alpha uc001oku.1 P62136 ENST00000376745.4:c.524-87T>G chr11.hg19:g.67166721A>C NA A6NNR3|B2R908|P08129|P20653|P22802|Q07161 hg19 CCDS8160.1 0.02 -0.264928 ACCxCCC COVERED NOVEL PPP1CA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395487.1 1 2.404797 KEEP 0 0 0 8 208 AA 0.99257 0.711986 0 - 9 60 112 0 0 7.249338 22 60 681 47 ENST00000376745.4 0.290323 0.717315 C11orf72 100505621 __UNKNOWN__ __UNKNOWN__ 11 67370766 67370766 __UNKNOWN__ 3'UTR SNP A A G rs4024254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67370766A>G ENST00000333139.3 - 0 2015 Q8NBR9 CK072_HUMAN chromosome 11 open reading frame 72 NA NA central_nervous_system(1)|lung(2)|stomach(1) 4 catgatgaatactgagtatgc 0.498 NA G||| 2140 0.427316 0.7065 0.5403 5008 , , NA 18766 0.1944 NA 0.3797 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK075315 11q13.2 2011-05-24 ENSG00000184224 ENSG00000184224 100505621 26915 protein-coding gene gene with protein product NA Standard NM_173578 NA Approved FLJ90834 uc001omi.1 Q8NBR9 OTTHUMG00000156309 ENST00000333139.3:c.*1019T>C chr11.hg19:g.67370766A>G NA hg19 0.02 4.59289 AATxCTG COVERED NOVEL C11orf72-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000343852.2 1 7.52157 KEEP 0 0 0 25 755 AA 0.999931 0.999926 0 - 5 60 189 0 0 12.415117 107 60 3743 161 ENST00000333139.3 0.044643 0.999995 C11orf72 100505621 __UNKNOWN__ __UNKNOWN__ 11 67372477 67372477 __UNKNOWN__ Missense_Mutation SNP G G T rs12421329 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67372477G>T ENST00000333139.3 - 3 304 c.64C>A c.(64-66)Cca>Aca p.P22T C11orf72_ENST00000446232.1_Missense_Mutation_p.P22T Q8NBR9 CK072_HUMAN chromosome 11 open reading frame 72 22 NA P -> T (in dbSNP:rs12421329). central_nervous_system(1)|lung(2)|stomach(1) 4 TGCTCCAGTGGGTGGGGACCA 0.567 NA G||| 1619 0.323283 0.326 0.5202 5008 , , NA 19774 0.1935 NA 0.3767 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 G 1423,2977 441.6+/-346.4 237,949,1014 32 34 33 -1 0 11 dbSNP_120 33 3175,5413 462.4+/-365.7 606,1963,1725 no near-gene-5 843,2912,2739 TT,TG,GG 36.9702,32.3409,35.4019 67372477 4598,8390 2200 4294 6494 SO:0001583 missense AK075315 11q13.2 2011-05-24 ENSG00000184224 ENSG00000184224 100505621 26915 protein-coding gene gene with protein product NA Standard NM_173578 NA Approved FLJ90834 uc001omi.1 Q8NBR9 OTTHUMG00000156309 ENST00000333139.3:c.64C>A chr11.hg19:g.67372477G>T ENSP00000328640:p.Pro22Thr NA hg19 0.02 8.225845 GTGxGTG COVERED 715 0.3273809523809524 154 0.3130081300813008 177 0.4889502762430939 107 0.18706293706293706 277 0.3654353562005277 g 10.03 1.238781 0.22711 0.323409 0.369702 ENSG00000184224 ENST00000333139;ENST00000446232 T;T 0.56776 0.44;0.44 2.4 -0.956 0.10353 . . . . . T 0.00012 0.0000 . . . . . . P 0.48694 0.914 P 0.54431 0.752 T 0.38735 -0.9647 7 0.87932 D 0 . 3.1398 0.06452 0.1485:0.0:0.3919:0.4596 rs12421329;rs52813222;rs58119142;rs12421329 22 Q8NBR9 CK072_HUMAN T 22 ENSP00000328640:P22T;ENSP00000416700:P22T ENSP00000328640:P22T P - 1 0 C11orf72 67129053 0.000000 0.05858 0.005000 0.12908 0.067000 0.16453 -1.125000 0.03257 -0.187000 0.10516 0.506000 0.49869 CCA NOVEL C11orf72-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000343852.2 3 15.349892 KEEP 0 0 0 51 1788 GG 1 1 0 - 10 60 358 0 0 22.696467 221 60 8100 337 ENST00000333139.3 0.04329 1 C11orf72 100505621 __UNKNOWN__ __UNKNOWN__ 11 67372593 67372593 __UNKNOWN__ Intron SNP A A C rs12793832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67372593A>C ENST00000333139.3 - 3 207 C11orf72_ENST00000446232.1_Intron Q8NBR9 CK072_HUMAN chromosome 11 open reading frame 72 NA NA central_nervous_system(1)|lung(2)|stomach(1) 4 aacagggctcatcattcctga 0.527 NA A||| 1620 0.323482 0.326 0.5202 5008 , , NA 20500 0.1935 NA 0.3767 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075315 11q13.2 2011-05-24 ENSG00000184224 ENSG00000184224 100505621 26915 protein-coding gene gene with protein product NA Standard NM_173578 NA Approved FLJ90834 uc001omi.1 Q8NBR9 OTTHUMG00000156309 ENST00000333139.3:c.34-19T>G chr11.hg19:g.67372593A>C NA hg19 0.02 9.387182 CTCxTCA COVERED NOVEL C11orf72-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000343852.2 2 16.548607 KEEP 0 0 0 55 1731 AA 1 1 0 - 8 60 309 0 0 20.115951 193 60 7113 331 ENST00000333139.3 0.039801 1 NDUFV1 4723 __UNKNOWN__ __UNKNOWN__ 11 67377787 67377787 __UNKNOWN__ Intron SNP C C T rs111907965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67377787C>T ENST00000322776.6 + 5 663 NDUFV1_ENST00000529927.1_Intron|NDUFV1_ENST00000526169.1_Intron|NDUFV1_ENST00000415352.2_Intron|NDUFV1_ENST00000532303.1_Intron NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 CTTCATGACTCCTGAAGTTAT 0.498 NA C||| 71 0.0141773 0.0129 0.0245 5008 , , NA 15385 0.0 NA 0.0268 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092131 CCDS8173.1, CCDS53669.1 11q13 2011-07-04 2002-08-29 ENSG00000167792 ENSG00000167792 4723 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7716 protein-coding gene gene with protein product complex I 51kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial 161015 NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD) NA 1478657 Standard NM_007103 NM_007103 NA Approved CI-51K uc001omj.2 P49821 OTTHUMG00000166215 ENST00000322776.6:c.511-65C>T chr11.hg19:g.67377787C>T NA O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7 hg19 CCDS8173.1 0.02 3.906474 ACTxCTG COVERED NOVEL NDUFV1-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388406.1 1 8.426283 KEEP 0 0 0 28 934 CC 0.999997 0.999996 0 + 5 60 173 0 0 10.629382 117 60 4416 170 ENST00000322776.6 0.040984 0.999999 NDUFV1 4723 __UNKNOWN__ __UNKNOWN__ 11 67379715 67379715 __UNKNOWN__ Silent SNP C C T rs565472178 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67379715C>T ENST00000322776.6 + 9 1440 c.1287C>T c.(1285-1287)gaC>gaT p.D429D NDUFV1_ENST00000529927.1_Silent_p.D420D|NDUFV1_ENST00000415352.2_Silent_p.D422D|NDUFV1_ENST00000532303.1_Silent_p.D328D NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 429 NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) 4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137) breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 CTCTGGGTGACGGGGCCGCCT 0.617 NA C||| 1 0.000199681 0.0008 0.0 5008 , , NA 13857 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 122 125 124 NA NA 11 NA 67379715 2200 4294 6494 SO:0001819 synonymous_variant AF092131 CCDS8173.1, CCDS53669.1 11q13 2011-07-04 2002-08-29 ENSG00000167792 ENSG00000167792 4723 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7716 protein-coding gene gene with protein product complex I 51kDa subunit, NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial 161015 NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD) NA 1478657 Standard NM_007103 NM_007103 NA Approved CI-51K uc001omj.2 P49821 OTTHUMG00000166215 ENST00000322776.6:c.1287C>T chr11.hg19:g.67379715C>T NA O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7 hg19 CCDS8173.1 0.02 11.004278 TGAxGGG COVERED NOVEL NDUFV1-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388406.1 7 18.594476 KEEP 0 1 32 73 2509 CC 1 1 0 + 8 60 295 0 0 17.895695 246 60 8369 429 ENST00000322776.6 0.031496 1 ALDH3B1 221 __UNKNOWN__ __UNKNOWN__ 11 67795299 67795299 __UNKNOWN__ 3'UTR SNP G G A rs308341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67795299G>A ENST00000434449.1 + 0 1339 ALDH3B1_ENST00000316367.6_Intron|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000342456.6_Silent_p.P395P|ALDH3B1_ENST00000007633.8_Silent_p.P431P|ALDH3B1_ENST00000539229.1_Silent_p.P431P P43353 AL3B1_HUMAN aldehyde dehydrogenase 3 family, member B1 NA NA alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982) 3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030) NA TGCGCAGCCCGGGGATGGAGA 0.657 NA G||| 1240 0.247604 0.4009 0.2003 5008 , , NA 14592 0.2173 NA 0.2038 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 G ARG/GLY,,ARG/GLY 1553,2783 271,1011,886 43 48 46 1297,1187,1297 -7.7 0 11 dbSNP_79 46 1566,6928 163,1240,2844 yes missense,coding-notMod3,missense ALDH3B1 NM_000694.2,NM_001030010.1,NM_001161473.1 125,,125 434,2251,3730 AA,AG,GG 18.4365,35.8164,24.3102 ,, 433/468,,433/468 67795299 3119,9711 2168 4247 6415 SO:0001624 3_prime_UTR_variant U10868 CCDS73335.1, CCDS73336.1 11q13 2010-04-27 ENSG00000006534 ENSG00000006534 221 1.2.1.5 Aldehyde dehydrogenases 410 protein-coding gene gene with protein product aldehyde dehydrogenase 7, aldehyde dehydrogenase 3B1 600466 ALDH7 NA 9161417, 7828891 Standard NM_000694 NM_000694 NA Approved uc001ona.3 P43353 OTTHUMG00000154910 ENST00000434449.1:c.*1336G>A chr11.hg19:g.67795299G>A NA A3FMP9|Q53XL5|Q8N515|Q96CK8 hg19 0.02 9.257224 CCCxGGG COVERED NOVEL ALDH3B1-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000337614.1 3 50.259507 KEEP 0 0 0 167 5720 GG 1 1 0 + 17 60 612 0 0 42.353478 233 60 8158 605 ENST00000434449.1 0.068 1 CHKA 1119 __UNKNOWN__ __UNKNOWN__ 11 67821036 67821036 __UNKNOWN__ 5'UTR SNP G G A rs3794186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:67821036G>A ENST00000533728.1 - 0 604 RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA|CHKA_ENST00000265689.4_3'UTR P35790 CHKA_HUMAN choline kinase alpha NA NA CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) ATAACACATCGCCATCTACAA 0.483 NA G||| 509 0.101637 0.0991 0.0706 5008 , , NA 21439 0.2034 NA 0.0686 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D10704 CCDS8178.1, CCDS8179.1 11q13.1 2008-02-05 2004-04-19 2004-04-21 ENSG00000110721 ENSG00000110721 1119 2.7.1.32 1937 protein-coding gene gene with protein product 118491 choline kinase CHK NA 1618328, 15003397 Standard NM_001277 NM_001277 NA Approved CKI uc001onj.3 P35790 OTTHUMG00000167424 ENST00000533728.1:c.-58C>T chr11.hg19:g.67821036G>A NA Q8NE29 hg19 0.02 6.703161 ATCxCCA COVERED NOVEL CHKA-008 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000394578.1 0 11.434928 KEEP 0 0 0 38 1268 GG 1 1 0 - 9 60 328 0 0 21.631203 169 60 5940 267 ENST00000533728.1 0.050562 1 C11orf24 53838 __UNKNOWN__ __UNKNOWN__ 11 68029887 68029887 __UNKNOWN__ Intron SNP G G A rs78911714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:68029887G>A ENST00000533310.1 - 4 863 C11orf24_ENST00000304271.6_Silent_p.L192L Q96F05 CK024_HUMAN chromosome 11 open reading frame 24 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1) 13 GCACTTGTGCGAGGGCTGTGC 0.622 NA G||| 113 0.0225639 0.0068 0.0 5008 , , NA 19285 0.0704 NA 0.002 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NSCLC(21;855 905 4198 36694) NA 0 G 25,4375 31.7+/-61.6 0,25,2175 71 66 68 576 -7 0 11 dbSNP_132 68 12,8576 9.1+/-34.3 0,12,4282 no coding-synonymous C11orf24 NM_022338.3 0,37,6457 AA,AG,GG 0.1397,0.5682,0.2849 192/450 68029887 37,12951 2200 4294 6494 SO:0001627 intron_variant AF264781 CCDS8180.1, CCDS73338.1 11q13.2 2014-01-08 ENSG00000171067 ENSG00000171067 53838 1174 protein-coding gene gene with protein product 610880 NA 11401438, 24312644 Standard NM_022338 NM_022338 NA Approved DM4E3 uc001onr.4 Q96F05 OTTHUMG00000167478 ENST00000533310.1:c.264+311C>T chr11.hg19:g.68029887G>A NA Q9H2K4 hg19 0.02 10.515956 TGCxAGG COVERED NOVEL C11orf24-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394752.1 2 10.834879 KEEP 0 0 0 36 1242 GG 0.999999 0.999999 0 - 9 60 321 0 0 19.343578 256 60 9223 348 ENST00000533310.1 0.033962 1 LRP5 4041 __UNKNOWN__ __UNKNOWN__ 11 68201295 68201295 __UNKNOWN__ Missense_Mutation SNP C C T rs3736228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:68201295C>T ENST00000294304.7 + 18 4095 c.3989C>T c.(3988-3990)gCg>gTg p.A1330V NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1330 LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA A -> V (in dbSNP:rs3736228). {ECO:0000269|PubMed:12509515, ECO:0000269|PubMed:12579474, ECO:0000269|PubMed:14727154, ECO:0000269|PubMed:15077203}. adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCAGACGAGGCGGACTGTGAC 0.701 NA C||| 581 0.116014 0.0219 0.1542 5008 , , NA 15953 0.2034 NA 0.1342 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 GRCh37 CM067428 LRP5 M rs3736228 C VAL/ALA 209,4189 7,195,1997 24 23 23 http://www.ncbi.nlm.nih.gov/pubmed?term 3989 3.5 0.4 11 dbSNP_107 23 1209,7375 82,1045,3165 yes missense LRP5 NM_002335.2 64 89,1240,5162 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 14.0843,4.7522,10.9228 benign 1330/1616 68201295 1418,11564 2199 4292 6491 SO:0001583 missense AF064548 CCDS8181.1 11q13.4 2014-01-28 2003-03-12 ENSG00000162337 ENSG00000162337 4041 Low density lipoprotein receptors 6697 protein-coding gene gene with protein product 603506 osteoporosis pseudoglioma syndrome, exudative vitreoretinopathy 1 LRP7, OPPG, EVR1 NA 9714764, 10049586 Standard NM_002335 XM_005273994 NA Approved LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4 uc001ont.3 O75197 OTTHUMG00000167570 ENST00000294304.7:c.3989C>T chr11.hg19:g.68201295C>T ENSP00000294304:p.Ala1330Val NA Q96TD6|Q9UES7|Q9UP66 hg19 CCDS8181.1 0.02 6.623309 AGGxGGA COVERED 295 0.13507326007326007 10 0.02032520325203252 67 0.1850828729281768 124 0.21678321678321677 94 0.12401055408970976 C 9.334 1.061309 0.19987 0.047522 0.140843 ENSG00000162337 ENST00000294304 D 0.95412 -3.7 4.39 3.48 0.39840 Low-density lipoprotein (LDL) receptor class A, conserved site (1); 0.742533 0.11357 U 0.572281 T 0.00300 0.0009 N 0.05510 -0.035 0.42547 P 0.006909999999999972 B;B 0.15930 0.015;0.015 B;B 0.10450 0.005;0.005 T 0.40757 -0.9546 9 0.29301 T 0.29 . 8.5182 0.33259 0.0:0.7538:0.0:0.2462 rs3736228;rs17848253;rs59566856;rs3736228 1330;1330 Q9UES7;O75197 .;LRP5_HUMAN V 1330 ENSP00000294304:A1330V ENSP00000294304:A1330V A + 2 0 LRP5 67957871 0.127000 0.22367 0.426000 0.26672 0.553000 0.35397 0.675000 0.25232 1.084000 0.41184 0.456000 0.33151 GCG NOVEL LRP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395088.1 0 12.639614 KEEP 0 0 0 42 1406 CC 1 1 0 + 6 60 222 0 0 14.078115 147 60 4792 244 ENST00000294304.7 0.039216 1 PPP6R3 55291 __UNKNOWN__ __UNKNOWN__ 11 68326236 68326236 __UNKNOWN__ Intron SNP C C T rs12271290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:68326236C>T ENST00000534534.1 + 5 556 PPP6R3_ENST00000265636.5_Intron|PPP6R3_ENST00000265637.4_Intron|PPP6R3_ENST00000393799.2_Intron|PPP6R3_ENST00000524904.1_Intron|PPP6R3_ENST00000524845.1_Intron|PPP6R3_ENST00000393801.3_Intron|PPP6R3_ENST00000529710.1_Intron|PPP6R3_ENST00000527403.2_Intron|PPP6R3_ENST00000393800.2_Intron Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 NA NA regulation of phosphoprotein phosphatase activity (GO:0043666) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein phosphatase binding (GO:0019903) breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GCTGTAATAGCGTACCTTTGA 0.323 NA C||| 1066 0.212859 0.2163 0.2161 5008 , , NA 19361 0.2103 NA 0.2744 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF264779 CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1 11q13 2012-04-17 2010-06-28 2010-06-28 ENSG00000110075 ENSG00000110075 55291 Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits 1173 protein-coding gene gene with protein product sporulation-induced transcript 4-associated protein 610879 chromosome 11 open reading frame 23, SAPS domain family, member 3 C11orf23, SAPS3 NA 11401438, 16769727 Standard NM_018312 NM_018312 NA Approved SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712 uc001onv.3 Q5H9R7 ENST00000534534.1:c.280-8246C>T chr11.hg19:g.68326236C>T NA Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3 hg19 0.02 1.646137 TAGxGTA COVERED NOVEL PPP6R3-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395280.1 0 3.309625 KEEP 0 0 0 11 338 CC 0.993072 0.993003 0 + 4 60 135 0 0 8.198472 92 60 3006 107 ENST00000534534.1 0.041667 0.99993 MTL5 9633 __UNKNOWN__ __UNKNOWN__ 11 68504972 68504972 __UNKNOWN__ Intron SNP C C T rs79100192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:68504972C>T ENST00000255087.5 - 6 1101 MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_Intron NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) NA NA cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872) breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) AAGCCATGCCCGATGGCAGAA 0.547 NA C||| 367 0.0732827 0.0658 0.072 5008 , , NA 19916 0.0734 NA 0.0616 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U86074 CCDS8184.1, CCDS44661.1 11q13.2-q13.3 2007-01-03 ENSG00000132749 ENSG00000132749 9633 7446 protein-coding gene gene with protein product CXC domain containing 2 604374 NA 1091092 Standard NM_004923 XR_428932 NA Approved CXCDC2 uc001ooc.3 Q9Y4I5 OTTHUMG00000167891 ENST00000255087.5:c.917+1195G>A chr11.hg19:g.68504972C>T NA A8K8J3|Q4G182|Q6P2E2|Q8NCC8 hg19 CCDS8184.1 0.02 8.791874 GCCxGAT COVERED NOVEL MTL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396844.1 1 11.436154 KEEP 0 0 0 38 1284 CC 1 1 0 - 8 60 292 0 0 18.251074 203 60 7006 297 ENST00000255087.5 0.037915 1 CPT1A 1374 __UNKNOWN__ __UNKNOWN__ 11 68530257 68530257 __UNKNOWN__ Intron SNP C C T rs2924699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:68530257C>T ENST00000265641.5 - 15 1895 CPT1A_ENST00000537756.2_Intron|CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Intron|CPT1A_ENST00000376618.2_Intron NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) NA NA carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641) integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) carnitine O-palmitoyltransferase activity (GO:0004095) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074) CTTCAGTGCACGGCAGGGCAT 0.517 NA C||| 753 0.150359 0.3472 0.085 5008 , , NA 21934 0.0883 NA 0.0527 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 C , 1231,3169 424.2+/-340.4 183,865,1152 54 48 50 , -6.6 0 11 dbSNP_101 50 553,8035 150.3+/-205.2 20,513,3761 no intron,intron CPT1A NM_001031847.2,NM_001876.3 , 203,1378,4913 TT,TC,CC 6.4392,27.9773,13.7358 , , 68530257 1784,11204 2200 4294 6494 SO:0001627 intron_variant L39211 CCDS8185.1, CCDS31624.1 11q13.2 2007-07-26 ENSG00000110090 1374 2.3.1.21 2328 protein-coding gene gene with protein product 600528 CPT1 NA 7892212, 9070950 Standard NM_001876 NM_001876 NA Approved CPT1-L, L-CPT1 uc001oog.4 P50416 ENST00000265641.5:c.1741-28G>A chr11.hg19:g.68530257C>T NA Q8TCU0|Q9BWK0 hg19 CCDS8185.1 0.02 9.411733 GCAxGGC COVERED NOVEL CPT1A-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397457.2 2 14.746219 KEEP 0 0 0 49 1634 CC 1 1 0 - 9 60 344 0 0 22.36076 212 60 7319 331 ENST00000265641.5 0.040724 1 IGHMBP2 3508 __UNKNOWN__ __UNKNOWN__ 11 68671393 68671393 __UNKNOWN__ 5'UTR SNP C C A rs117368938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:68671393C>A ENST00000539224.1 + 0 29 IGHMBP2_ENST00000255078.3_5'UTR P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 NA NA ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412) axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGGACGTCGGCTTCTAGGGGC 0.697 NA C||| 40 0.00798722 0.0008 0.0 5008 , , NA 14281 0.0377 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 5,4275 0,5,2135 8 10 9 -1.7 0 11 dbSNP_132 9 0,8388 0,0,4194 no utr-5 IGHMBP2 NM_002180.2 0,5,6329 AA,AC,CC 0.0,0.1168,0.0395 68671393 5,12663 2140 4194 6334 SO:0001623 5_prime_UTR_variant L14754 CCDS8187.1 11q13.3 2014-09-17 ENSG00000132740 ENSG00000132740 3508 Zinc fingers, AN1-type domain containing 5542 protein-coding gene gene with protein product cardiac transcription factor 1, zinc finger, AN1-type domain 7 600502 NA 8349627 Standard NM_002180 NM_002180 NA Approved ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6 uc001ook.1 P38935 OTTHUMG00000167894 ENST00000539224.1:c.-28C>A chr11.hg19:g.68671393C>A NA A0PJD2|Q00443|Q14177 hg19 0.02 7.831574 CGGxTTC COVERED NOVEL IGHMBP2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396864.1 3 38.222584 KEEP 0 0 0 127 4465 CC 1 1 0 + 9 60 266 0 0 15.304587 199 60 7424 409 ENST00000539224.1 0.043269 1 ANO1 55107 __UNKNOWN__ __UNKNOWN__ 11 69933891 69933891 __UNKNOWN__ Missense_Mutation SNP G G A rs76718681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:69933891G>A ENST00000355303.5 + 2 447 c.142G>A c.(142-144)Gag>Aag p.E48K ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Missense_Mutation_p.E48K|ANO1_ENST00000316296.5_Missense_Mutation_p.E20K NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 48 NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 Crofelemer(DB04941) CCCTGATGCCGAGTGCAAGTA 0.587 NA G||| 241 0.048123 0.0809 0.0432 5008 , , NA 16531 0.0278 NA 0.0457 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 G LYS/GLU 342,3830 17,308,1761 36 38 37 142 -4 0.4 11 dbSNP_131 37 419,8003 4,411,3796 yes missense ANO1 NM_018043.5 56 21,719,5557 AA,AG,GG 4.9751,8.1975,6.0426 benign 48/987 69933891 761,11833 2086 4211 6297 SO:0001583 missense BC033036 CCDS44663.1 11q13.2 2014-04-09 2008-08-28 2008-08-28 ENSG00000131620 ENSG00000131620 55107 Ion channels / Chloride channels : Calcium activated : Anoctamins 21625 protein-coding gene gene with protein product 610108 oral cancer overexpressed 2, transmembrane protein 16A ORAOV2, TMEM16A NA 15067359, 18724360, 24692353 Standard NM_018043 NM_018043 NA Approved TAOS2, FLJ10261, DOG1 uc001opj.3 Q5XXA6 OTTHUMG00000167204 ENST00000355303.5:c.142G>A chr11.hg19:g.69933891G>A ENSP00000347454:p.Glu48Lys NA A8KAM3|Q8IYY8|Q8N7V3 hg19 CCDS44663.1 0.02 15.609565 GCCxAGT COVERED 96 0.04395604395604396 31 0.06300813008130081 15 0.04143646408839779 11 0.019230769230769232 39 0.051451187335092345 G 6.646 0.487632 0.12641 0.081975 0.049751 ENSG00000131620 ENST00000355303;ENST00000538023;ENST00000531604;ENST00000316296 T;T;T;T 0.29142 1.58;1.58;1.58;1.58 4.57 -3.99 0.04069 . 1.156430 0.06345 N 0.708854 T 0.01156 0.0038 L 0.48642 1.525 0.19300 N 0.99998 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.25813 -1.0121 9 . . . . 7.0704 0.25175 0.4248:0.1129:0.4624:0.0 . 20;48 Q5XXA6-3;Q5XXA6 .;ANO1_HUMAN K 48;48;48;20 ENSP00000347454:E48K;ENSP00000444689:E48K;ENSP00000436392:E48K;ENSP00000319477:E20K . E + 1 0 ANO1 69611539 0.005000 0.15991 0.369000 0.25952 0.465000 0.32709 -0.231000 0.09069 -0.471000 0.06891 -0.254000 0.11334 GAG NOVEL ANO1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000393685.1 2 14.443943 KEEP 0 0 0 48 1572 GG 1 1 0 + 12 60 449 0 0 27.876284 342 60 12173 490 ENST00000355303.5 0.033898 1 PPFIA1 8500 __UNKNOWN__ __UNKNOWN__ 11 70222604 70222604 __UNKNOWN__ Intron SNP G G A rs664130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:70222604G>A ENST00000253925.7 + 25 3530 PPFIA1_ENST00000389547.3_Intron|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_Intron NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 NA NA cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786) signal transducer activity (GO:0004871) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TAGATTTGATGAAAGTTTTAT 0.393 NA G||| 997 0.199081 0.1702 0.2507 5008 , , NA 18775 0.1052 NA 0.2247 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 G , 667,3733 283.4+/-277.1 45,577,1578 130 122 124 , -0.1 0 11 dbSNP_83 124 1877,6711 334.1+/-320.8 195,1487,2612 no intron,intron PPFIA1 NM_003626.2,NM_177423.1 , 240,2064,4190 AA,AG,GG 21.8561,15.1591,19.5873 , , 70222604 2544,10444 2200 4294 6494 SO:0001627 intron_variant U22816 CCDS31627.1, CCDS31628.1 11q13.3 2013-01-10 ENSG00000131626 ENSG00000131626 8500 Sterile alpha motif (SAM) domain containing 9245 protein-coding gene gene with protein product Liprin-alpha1 611054 NA 7796809, 9624153 Standard NM_003626 NM_003626 NA Approved LIP.1, LIPRIN uc001opo.3 Q13136 OTTHUMG00000167266 ENST00000253925.7:c.3316-34G>A chr11.hg19:g.70222604G>A NA A6NLE3|Q13135|Q14567|Q8N4I2 hg19 CCDS31627.1 0.02 3.838458 GATxAAA COVERED NOVEL PPFIA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000393905.1 1 9.028893 KEEP 0 0 0 30 1031 GG 0.999997 0.999986 0 + 5 60 166 0 0 10.228896 102 60 3888 156 ENST00000253925.7 0.046729 0.999989 PPFIA1 8500 __UNKNOWN__ __UNKNOWN__ 11 70229171 70229171 __UNKNOWN__ 3'UTR SNP G G A rs552282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:70229171G>A ENST00000253925.7 + 0 3899 AP000487.5_ENST00000524619.1_RNA|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 NA NA cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786) signal transducer activity (GO:0004871) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) ACTACATTTTGGAATCCAGTG 0.303 NA A||| 2070 0.413339 0.7224 0.4741 5008 , , NA 15850 0.1042 NA 0.3479 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U22816 CCDS31627.1, CCDS31628.1 11q13.3 2013-01-10 ENSG00000131626 ENSG00000131626 8500 Sterile alpha motif (SAM) domain containing 9245 protein-coding gene gene with protein product Liprin-alpha1 611054 NA 7796809, 9624153 Standard NM_003626 NM_003626 NA Approved LIP.1, LIPRIN uc001opo.3 Q13136 OTTHUMG00000167266 ENST00000253925.7:c.*75G>A chr11.hg19:g.70229171G>A NA A6NLE3|Q13135|Q14567|Q8N4I2 hg19 CCDS31627.1 0.02 10.534036 TTTxGAA COVERED 800 0.3663003663003663 330 0.6707317073170732 158 0.43646408839779005 58 0.10139860139860139 254 0.33509234828496043 A 12.35 1.910871 0.33721 . . ENSG00000131626 ENST00000528853 . . . 5.01 -0.731 0.11151 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.38023 -0.9680 3 . . . . 0.2971 0.00267 0.254:0.2331:0.2613:0.2516 rs552282;rs56631971;rs57432535;rs552282 . . . R 61 . . G + 1 0 PPFIA1 69906819 0.000000 0.05858 0.000000 0.03702 0.268000 0.26511 -0.456000 0.06754 -0.351000 0.08249 -0.254000 0.11334 GGA NOVEL PPFIA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000393905.1 0 25.582264 KEEP 0 0 0 85 2957 GG 1 1 0 + 10 60 374 0 0 23.182295 287 60 10573 468 ENST00000253925.7 0.03367 1 SHANK2 22941 __UNKNOWN__ __UNKNOWN__ 11 70789000 70789000 __UNKNOWN__ Intron SNP G G A rs11238042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:70789000G>A ENST00000338508.4 - 11 1002 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 NA NA adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GTTACTGAGGGTTCTGGGTCT 0.473 NA g||| 1060 0.211661 0.0212 0.2161 5008 , , NA 20625 0.3095 NA 0.2903 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF141901 11q13.2 2013-01-10 ENSG00000162105 ENSG00000162105 22941 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 14295 protein-coding gene gene with protein product 603290 cortactin binding protein 1 CORTBP1 NA 10506216 Standard NM_012309 XM_005277930 NA Approved CTTNBP1, ProSAP1, SHANK, SPANK-3 uc001oqc.3 Q9UPX8 OTTHUMG00000154615 ENST00000338508.4:c.1003-52C>T chr11.hg19:g.70789000G>A NA C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1 hg19 0.02 5.797909 AGGxTTC COVERED NOVEL SHANK2-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 4.514805 KEEP 0 0 0 15 536 GG 0.99649 0.99649 0 - 7 60 235 0 0 13.876235 183 60 6640 225 ENST00000338508.4 0.036842 1 SHANK2 22941 __UNKNOWN__ __UNKNOWN__ 11 70794485 70794485 __UNKNOWN__ Intron SNP C C G rs67223333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:70794485C>G ENST00000338508.4 - 8 917 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 NA NA adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) gtggctcttacgagaaactcc 0.448 NA C||| 1077 0.215056 0.2821 0.1772 5008 , , NA 20112 0.1677 NA 0.2008 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF141901 11q13.2 2013-01-10 ENSG00000162105 ENSG00000162105 22941 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 14295 protein-coding gene gene with protein product 603290 cortactin binding protein 1 CORTBP1 NA 10506216 Standard NM_012309 XM_005277930 NA Approved CTTNBP1, ProSAP1, SHANK, SPANK-3 uc001oqc.3 Q9UPX8 OTTHUMG00000154615 ENST00000338508.4:c.918-23G>C chr11.hg19:g.70794485C>G NA C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1 hg19 0.02 7.803315 TTAxGAG COVERED NOVEL SHANK2-201 KNOWN basic|appris_principal protein_coding NA protein_coding 2 6.319781 KEEP 0 0 0 21 701 CC 0.999869 0.999869 0 - 9 60 311 0 0 19.252659 202 60 6951 276 ENST00000338508.4 0.042654 1 DHCR7 1717 __UNKNOWN__ __UNKNOWN__ 11 71155129 71155129 __UNKNOWN__ Silent SNP G G A rs4316537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71155129G>A ENST00000355527.3 - 4 507 c.231C>T c.(229-231)acC>acT p.T77T DHCR7_ENST00000407721.2_Silent_p.T77T NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 77 NA blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640) 7-dehydrocholesterol reductase activity (GO:0047598) endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 GAGCATGTCCGGTGACGATGT 0.577 NA Smith-Lemli-Opitz syndrome G||| 527 0.105232 0.1657 0.0447 5008 , , NA 18849 0.0933 NA 0.0646 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 G , 561,3839 247.8+/-255.9 41,479,1680 68 51 57 231,231 -9 0 11 dbSNP_111 57 530,8058 146.6+/-202.2 14,502,3778 no coding-synonymous,coding-synonymous DHCR7 NM_001163817.1,NM_001360.2 , 55,981,5458 AA,AG,GG 6.1714,12.75,8.4001 , 77/476,77/476 71155129 1091,11897 2200 4294 6494 SO:0001819 synonymous_variant Familial Cancer Database SLOS type I & II AF034544 CCDS8200.1 11q13.4 2014-09-17 2004-02-13 1717 1.3.1.21 2860 protein-coding gene gene with protein product 602858 Smith-Lemli-Opitz syndrome SLOS NA 9465114, 9634533 Standard NM_001360 NM_001360 NA Approved uc001oql.3 Q9UBM7 ENST00000355527.3:c.231C>T chr11.hg19:g.71155129G>A NA B2R6Z2|O60492|O60717 hg19 CCDS8200.1 0.02 17.182589 TCCxGTG COVERED NOVEL DHCR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394243.1 2 46.044013 KEEP 0 0 0 153 5143 GG 1 1 0 - 12 60 425 0 0 24.796126 400 60 13752 736 ENST00000355527.3 0.029126 1 NADSYN1 55191 __UNKNOWN__ __UNKNOWN__ 11 71189315 71189315 __UNKNOWN__ Intron SNP T T C rs28722015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71189315T>C ENST00000319023.2 + 10 986 NADSYN1_ENST00000539574.1_Intron NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 NA NA NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|cytosol (GO:0005829) ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamine(DB00130) TCCCTGGGCCTCCAGGAATCC 0.557 NA C||| 749 0.149561 0.2927 0.0476 5008 , , NA 17316 0.1458 NA 0.0666 False NA ,,, NA NA NA 2504 0.1176 NA NA NA Ovarian(79;763 1781 6490 50276) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB091316 CCDS8201.1 11q13.4 2008-02-05 ENSG00000172890 55191 29832 protein-coding gene gene with protein product 608285 NA 12547821 Standard NM_018161 NM_018161 NA Approved FLJ10631 uc001oqn.3 Q6IA69 ENST00000319023.2:c.799-126T>C chr11.hg19:g.71189315T>C NA B3KUU4|Q86SN2|Q9HA25|Q9NVM8 hg19 CCDS8201.1 0.02 2.587181 GCCxCCA COVERED NOVEL NADSYN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394356.1 3 2.407196 KEEP 0 0 0 8 247 TT 0.99257 0.97466 0 + 5 60 179 0 0 12.929974 52 60 1964 73 ENST00000319023.2 0.087719 0.981955 KRTAP5-9 3846 __UNKNOWN__ __UNKNOWN__ 11 71260165 71260165 __UNKNOWN__ Silent SNP C C T rs61733899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71260165C>T ENST00000528743.2 + 1 700 c.462C>T c.(460-462)tgC>tgT p.C154C NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 154 8 X 4 AA repeats of C-C-X-P. NA epidermis development (GO:0008544) keratin filament (GO:0045095) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 AGCCCTGCTGCTCCCAGTCCA 0.577 NA c||| 82 0.0163738 0.0023 0.0058 5008 , , NA 20261 0.0397 NA 0.0169 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 C 17,4383 0,17,2183 117 121 120 462 0.2 1 11 dbSNP_129 120 216,8370 3,210,4080 no coding-synonymous KRTAP5-9 NM_005553.3 3,227,6263 TT,TC,CC 2.5157,0.3864,1.7942 154/170 71260165 233,12753 2200 4293 6493 SO:0001819 synonymous_variant AB126078 CCDS53677.1 11q13.4 2008-02-05 ENSG00000254997 3846 Keratin associated proteins 23604 protein-coding gene gene with protein product 148021 KRN1 NA 15144888 Standard NM_005553 NA Approved KRTAP5.9, KRTAP5-1 uc001oqs.1 P26371 ENST00000528743.2:c.462C>T chr11.hg19:g.71260165C>T NA Q14564|Q3MIP8 hg19 CCDS53677.1 0.02 15.659356 CTGxTCC COVERED NOVEL KRTAP5-9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393901.2 2 11.136786 KEEP 0 0 0 37 1358 CC 1 1 0 + 14 60 489 0 0 29.015916 401 60 15152 547 ENST00000528743.2 0.033735 1 KRTAP5-9 3846 __UNKNOWN__ __UNKNOWN__ 11 71260243 71260243 __UNKNOWN__ 3'UTR SNP T T C rs2664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71260243T>C ENST00000528743.2 + 0 778 NM_005553.3 NP_005544.4 P26371 KRA59_HUMAN keratin associated protein 5-9 NA NA epidermis development (GO:0008544) keratin filament (GO:0045095) kidney(1)|large_intestine(1)|lung(6)|prostate(3) 11 AGGTAGCTCCTGAAGATCTGT 0.552 NA t||| 2635 0.526158 0.6301 0.5908 5008 , , NA 21402 0.623 NA 0.4692 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 T 2645,1751 789,1067,342 53 55 54 0.3 0 11 dbSNP_36 54 3840,4746 868,2104,1321 no utr-3 KRTAP5-9 NM_005553.3 1657,3171,1663 CC,CT,TT 44.724,39.8317,49.9538 71260243 6485,6497 2198 4293 6491 SO:0001624 3_prime_UTR_variant AB126078 CCDS53677.1 11q13.4 2008-02-05 ENSG00000254997 3846 Keratin associated proteins 23604 protein-coding gene gene with protein product 148021 KRN1 NA 15144888 Standard NM_005553 NA Approved KRTAP5.9, KRTAP5-1 uc001oqs.1 P26371 ENST00000528743.2:c.*30T>C chr11.hg19:g.71260243T>C NA Q14564|Q3MIP8 hg19 CCDS53677.1 0.02 19.913337 TCCxGAA COVERED NOVEL KRTAP5-9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393901.2 4 14.742881 KEEP 0 0 0 49 1540 TT 1 1 0 + 17 60 583 0 0 34.267841 481 60 18002 684 ENST00000528743.2 0.034137 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 71576480 71576480 __UNKNOWN__ IGR SNP T T G rs2945921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71576480T>G NA NA CTD-2313N18.8 (1776 upstream) : CTD-2313N18.7 (13018 downstream) NA NA NA cgcctggACATAACGTTTTTT 0.448 NA .||| 1279 0.255391 0.5151 0.2161 5008 , , NA 16159 0.2153 NA 0.0567 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.71576480T>G NA hg19 0.02 4.513921 ACAxAAC COVERED NOVEL 0 4 11.131387 KEEP 1 0 0 37 1111 TT 0.999999 0.999998 0 5 60 187 0 0 12.044254 116 60 4189 186 0.041322 0.999999 RP11-849H4.2 0 __UNKNOWN__ __UNKNOWN__ 11 71627159 71627159 __UNKNOWN__ Silent SNP C C A rs80164817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71627159C>A ENST00000528511.2 - 4 584 c.576G>T c.(574-576)gtG>gtT p.V192V NA NA NA AGGGACCCACCACAGAGTCAT 0.502 NA c||| 236 0.0471246 0.0242 0.0432 5008 , , NA 20936 0.0843 NA 0.0388 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000528511.2:c.576G>T chr11.hg19:g.71627159C>A NA hg19 0.02 29.458324 CACxACA COVERED 111 0.050824175824175824 21 0.042682926829268296 15 0.04143646408839779 51 0.08916083916083917 24 0.0316622691292876 c 3.493 -0.103524 0.06967 . . ENSG00000254469 ENST00000528560 . . . 4.47 -1.04 0.10068 . . . . . T 0.01156 0.0038 . . . . . . . . . . . . T 0.21042 -1.0257 3 . . . . 5.8343 0.18599 0.0:0.3179:0.4844:0.1977 . . . . C 72 . . G - 1 0 RP11-849H4.2 71304807 0.000000 0.05858 0.000000 0.03702 0.024000 0.10985 -0.004000 0.12878 -0.158000 0.11040 0.655000 0.94253 GGT NOVEL RP11-849H4.2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394950.2 4 24.078806 KEEP 0 0 0 80 2863 CC 1 1 0 - 20 60 735 0 0 43.572082 684 60 26071 1018 ENST00000528511.2 0.028409 1 IL18BP 10068 __UNKNOWN__ __UNKNOWN__ 11 71710200 71710200 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71710200G>T ENST00000393703.4 + 1 479 IL18BP_ENST00000525932.1_Intron|IL18BP_ENST00000393705.4_Intron|IL18BP_ENST00000404792.1_5'UTR|IL18BP_ENST00000337131.5_Intron|IL18BP_ENST00000497194.2_5'UTR|IL18BP_ENST00000531053.1_Intron NM_001039660.1 NP_001034749.1 O95998 I18BP_HUMAN interleukin 18 binding protein NA NA cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019) endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 GGAGTGGGTAGCCTGGGAAAG 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 145 140 141 NA NA 11 NA 71710200 873 1984 2857 SO:0001627 intron_variant AF110798 CCDS8206.2, CCDS44666.1 11q13 2013-01-11 ENSG00000137496 ENSG00000137496 10068 Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5987 protein-coding gene gene with protein product MC51L-53L-54L homolog gene product 604113 NA 10023777 Standard NM_173042 NM_001145055 NA Approved IL18BPa uc001orf.1 O95998 OTTHUMG00000133713 ENST00000393703.4:c.-59+135G>T chr11.hg19:g.71710200G>T NA B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7 hg19 CCDS8206.2 0.02 9.784473 GTAxCCT COVERED NOVEL IL18BP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000258012.2 2 22.271059 KEEP 0 0 0 74 2579 GG 1 1 0 + 13 60 443 0 0 27.91544 256 60 9274 417 ENST00000393703.4 0.048327 1 IL18BP 10068 __UNKNOWN__ __UNKNOWN__ 11 71713415 71713415 __UNKNOWN__ 3'UTR SNP G G A rs55992367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71713415G>A ENST00000393703.4 + 0 1630 IL18BP_ENST00000393705.4_3'UTR|IL18BP_ENST00000404792.1_3'UTR|IL18BP_ENST00000260049.5_3'UTR|IL18BP_ENST00000337131.5_3'UTR|IL18BP_ENST00000497194.2_3'UTR|IL18BP_ENST00000393707.4_3'UTR NM_001039660.1 NP_001034749.1 O95998 I18BP_HUMAN interleukin 18 binding protein NA NA cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019) endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 AGCTCTGGCCGCATTCTGCAG 0.532 NA A||| 341 0.0680911 0.1059 0.0533 5008 , , NA 21117 0.0833 NA 0.0348 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF110798 CCDS8206.2, CCDS44666.1 11q13 2013-01-11 ENSG00000137496 ENSG00000137496 10068 Interleukins and interleukin receptors, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5987 protein-coding gene gene with protein product MC51L-53L-54L homolog gene product 604113 NA 10023777 Standard NM_173042 NM_001145055 NA Approved IL18BPa uc001orf.1 O95998 OTTHUMG00000133713 ENST00000393703.4:c.*508G>A chr11.hg19:g.71713415G>A NA B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7 hg19 CCDS8206.2 0.02 14.566113 GCCxCAT COVERED NOVEL IL18BP-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000258012.2 0 29.162749 KEEP 0 0 0 97 3220 GG 1 1 0 + 13 60 468 0 0 28.230987 380 70 12789 601 ENST00000393703.4 0.033079 1 NUMA1 4926 __UNKNOWN__ __UNKNOWN__ 11 71721757 71721757 __UNKNOWN__ Intron SNP C C G rs78266495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71721757C>G ENST00000393695.3 - 17 5051 NUMA1_ENST00000358965.6_Intron|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 nuclear mitotic apparatus protein 1 NA NA central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CCCGACACCCCCCACGGCCCC 0.622 NA T RARA APL C||| 221 0.0441294 0.0189 0.0447 5008 , , NA 16112 0.0843 NA 0.0348 False NA ,,, NA NA NA 2504 0.046 NA NA NA Dom yes 11 11q13 4926 nuclear mitotic apparatus protein 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z11584 CCDS31633.1, CCDS66156.1 11q13 2008-02-05 ENSG00000137497 4926 8059 protein-coding gene gene with protein product 164009 NA 8406455 Standard NM_006185 NA Approved uc001orl.1 Q14980 ENST00000393695.3:c.4719+74G>C chr11.hg19:g.71721757C>G NA hg19 CCDS31633.1 0.02 -0.245644 CCCxCCA COVERED NOVEL NUMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395769.1 0 2.70866 KEEP 0 0 0 9 304 CC 0.99254 0.636563 0 - 3 60 98 0 0 7.092186 25 60 910 42 ENST00000393695.3 0.107143 0.641347 NUMA1 4926 __UNKNOWN__ __UNKNOWN__ 11 71726168 71726168 __UNKNOWN__ Missense_Mutation SNP G G C rs3750913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71726168G>C ENST00000393695.3 - 15 2712 c.2381C>G c.(2380-2382)gCt>gGt p.A794G NUMA1_ENST00000358965.6_Missense_Mutation_p.A794G|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 nuclear mitotic apparatus protein 1 NA NA central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GTGCTGGGCAGCCATGGCCTC 0.617 NA T RARA APL G||| 220 0.0439297 0.0189 0.0447 5008 , , NA 16288 0.0833 NA 0.0348 False NA ,,, NA NA NA 2504 0.046 NA NA NA Dom yes 11 11q13 4926 nuclear mitotic apparatus protein 1 L 0 G GLY/ALA 83,4317 69.8+/-107.6 1,81,2118 53 54 54 2381 5.9 0.7 11 dbSNP_107 54 235,8351 93.1+/-155.1 4,227,4062 yes missense NUMA1 NM_006185.2 60 5,308,6180 CC,CG,GG 2.737,1.8864,2.4488 possibly-damaging 794/2116 71726168 318,12668 2200 4293 6493 SO:0001583 missense Z11584 CCDS31633.1, CCDS66156.1 11q13 2008-02-05 ENSG00000137497 4926 8059 protein-coding gene gene with protein product 164009 NA 8406455 Standard NM_006185 NA Approved uc001orl.1 Q14980 ENST00000393695.3:c.2381C>G chr11.hg19:g.71726168G>C ENSP00000377298:p.Ala794Gly NA hg19 CCDS31633.1 0.02 10.877437 GCAxCCA COVERED 104 0.047619047619047616 17 0.034552845528455285 15 0.04143646408839779 49 0.08566433566433566 23 0.030343007915567283 G 13.85 2.360445 0.41801 0.018864 0.02737 ENSG00000137497 ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977 T;T;T 0.39056 2.29;2.29;1.1 5.91 5.91 0.95273 . 0.091741 0.48286 D 0.000198 T 0.01940 0.0061 L 0.55481 1.735 0.30662 N 0.754243 B;B;B;B 0.25048 0.011;0.117;0.031;0.031 B;B;B;B 0.25759 0.027;0.063;0.043;0.043 T 0.02220 -1.1193 10 0.45353 T 0.12 . 16.2125 0.82170 0.0:0.133:0.867:0.0 rs3750913 800;278;794;794 Q4LE64;Q59HB8;Q14980-2;Q14980 .;.;.;NUMA1_HUMAN G 794;794;357;794 ENSP00000351851:A794G;ENSP00000377298:A794G;ENSP00000444880:A794G ENSP00000351851:A794G A - 2 0 NUMA1 71403816 0.487000 0.25988 0.699000 0.30290 0.015000 0.08874 2.187000 0.42602 2.808000 0.96608 0.655000 0.94253 GCT NOVEL NUMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395769.1 4 25.276913 KEEP 0 0 0 84 2920 GG 1 1 0 - 9 60 328 0 0 19.814393 272 60 9674 457 ENST00000393695.3 0.032028 1 NUMA1 4926 __UNKNOWN__ __UNKNOWN__ 11 71729383 71729383 __UNKNOWN__ Intron SNP T T C rs113691033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71729383T>C ENST00000393695.3 - 12 1192 NUMA1_ENST00000358965.6_Intron|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 nuclear mitotic apparatus protein 1 NA NA central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 AGAGTATGGGTTCCTGGCTGG 0.597 NA T RARA APL T||| 220 0.0439297 0.0189 0.0447 5008 , , NA 18494 0.0833 NA 0.0348 False NA ,,, NA NA NA 2504 0.046 NA NA NA Dom yes 11 11q13 4926 nuclear mitotic apparatus protein 1 L 0 T 83,4317 70.3+/-108.2 1,81,2118 55 57 56 -6.8 0 11 dbSNP_132 56 236,8350 95.4+/-157.2 4,228,4061 no intron NUMA1 NM_006185.2 5,309,6179 CC,CT,TT 2.7487,1.8864,2.4565 71729383 319,12667 2200 4293 6493 SO:0001627 intron_variant Z11584 CCDS31633.1, CCDS66156.1 11q13 2008-02-05 ENSG00000137497 4926 8059 protein-coding gene gene with protein product 164009 NA 8406455 Standard NM_006185 NA Approved uc001orl.1 Q14980 ENST00000393695.3:c.861-37A>G chr11.hg19:g.71729383T>C NA hg19 CCDS31633.1 0.02 8.609779 GGGxTCC COVERED NOVEL NUMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395769.1 2 15.345807 KEEP 0 0 0 51 1591 TT 1 1 0 - 7 60 262 0 0 16.216981 203 60 7036 298 ENST00000393695.3 0.033333 1 LRTOMT 220074 __UNKNOWN__ __UNKNOWN__ 11 71816092 71816092 __UNKNOWN__ Intron SNP T T A rs12293885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71816092T>A ENST00000439209.1 + 6 603 LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000435085.1_Intron Q96E66 LRC51_HUMAN leucine rich transmembrane and O-methyltransferase domain containing NA NA cytoplasm (GO:0005737) large_intestine(2)|lung(1)|ovary(1) 4 GTTCCCAAGCTCACCAGTTCA 0.597 NA A||| 875 0.17472 0.2088 0.1974 5008 , , NA 18248 0.2242 NA 0.0596 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 48 52 50 NA NA 11 NA 71816092 692 1591 2283 SO:0001627 intron_variant CCDS8208.1, CCDS44667.1, CCDS44668.1, CCDS55778.1, CCDS59227.1 11q13.4 2014-09-05 2013-08-19 2008-11-27 ENSG00000184154 ENSG00000184154 220074 25033 protein-coding gene gene with protein product 612414 leucine rich repeat containing 51, deafness, autosomal recessive 63 LRRC51, DFNB63 NA 18794526, 18953341 Standard NM_145309 NM_145309 NA Approved COMT2, CFAP111 uc010rqw.2 Q8WZ04 OTTHUMG00000154887 ENST00000439209.1:c.438-3559T>A chr11.hg19:g.71816092T>A NA B2R7X1|B6CZ35|B6CZ36|B6CZ37|B6CZ38|B6CZ39|B7Z5I4 hg19 0.02 8.946107 AGCxCAC COVERED NOVEL LRTOMT-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337505.1 1 30.682745 KEEP 0 0 0 102 3211 TT 1 1 0 + 9 60 332 0 0 21.446241 197 60 6989 375 ENST00000439209.1 0.043689 1 ANAPC15 25906 __UNKNOWN__ __UNKNOWN__ 11 71821236 71821236 __UNKNOWN__ Silent SNP A A G rs17161980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71821236A>G ENST00000227618.4 - 5 441 c.216T>C c.(214-216)gaT>gaC p.D72D LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000545680.1_Silent_p.D72D|ANAPC15_ENST00000542531.1_Silent_p.D72D|ANAPC15_ENST00000538393.1_Silent_p.D72D|ANAPC15_ENST00000543015.1_5'UTR|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538919.1_Silent_p.D72D|ANAPC15_ENST00000535234.1_Silent_p.D72D|ANAPC15_ENST00000535503.1_Silent_p.D72D|ANAPC15_ENST00000543050.1_Silent_p.D72D|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000545944.1_Silent_p.D72D|ANAPC15_ENST00000543587.1_Silent_p.D72D|ANAPC15_ENST00000502597.2_5'UTR NM_001278487.1|NM_001278491.1|NM_014042.2 NP_001265416.1|NP_001265420.1|NP_054761.1 P60006 APC15_HUMAN anaphase promoting complex subunit 15 72 Asp-rich. NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622) NA tatcctcatcatcttcatcat 0.498 NA g||| 873 0.174321 0.208 0.1974 5008 , , NA 23194 0.2242 NA 0.0596 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 G , 819,3581 749.0+/-412.0 71,677,1452 329 281 297 ,216 -5.3 0.5 11 dbSNP_123 297 451,8135 798.5+/-407.4 13,425,3855 no utr-3,coding-synonymous C11orf51,LRTOMT NM_001145308.2,NM_014042.2 , 84,1102,5307 GG,GA,AA 5.2527,18.6136,9.7798 , ,72/122 71821236 1270,11716 2200 4293 6493 SO:0001819 synonymous_variant AL080071 CCDS8210.1, CCDS60880.1 11q13.4 2012-10-17 2012-05-31 2012-05-31 ENSG00000110200 ENSG00000110200 25906 Anaphase promoting complex subunits 24531 protein-coding gene gene with protein product 614717 chromosome 11 open reading frame 51 C11orf51 NA 21926987 Standard NM_014042 NM_014042 NA Approved HSPC020, DKFZP564M082, APC15 uc001orw.3 P60006 OTTHUMG00000167865 ENST00000227618.4:c.216T>C chr11.hg19:g.71821236A>G NA G3V1Q3|Q9CXK2|Q9Y269 hg19 CCDS8210.1 0.02 32.321522 ATCxTCT COVERED NOVEL ANAPC15-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000396695.1 7 71.915332 KEEP 0 0 0 239 7568 AA 1 1 0 - 21 60 774 0 0 45.275293 777 60 28590 1310 ENST00000227618.4 0.026316 1 ANAPC15 25906 __UNKNOWN__ __UNKNOWN__ 11 71822401 71822401 __UNKNOWN__ Intron SNP A A G rs3750908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71822401A>G ENST00000227618.4 - 2 216 ANAPC15_ENST00000545680.1_Intron|ANAPC15_ENST00000542531.1_Intron|ANAPC15_ENST00000538393.1_Intron|ANAPC15_ENST00000538919.1_Intron|ANAPC15_ENST00000535234.1_Intron|ANAPC15_ENST00000535503.1_Intron|ANAPC15_ENST00000543050.1_Intron|ANAPC15_ENST00000545944.1_Intron|ANAPC15_ENST00000543587.1_Intron|ANAPC15_ENST00000502597.2_Intron NM_001278487.1|NM_001278491.1|NM_014042.2 NP_001265416.1|NP_001265420.1|NP_054761.1 P60006 APC15_HUMAN anaphase promoting complex subunit 15 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622) NA AATTTGATTTAGGGATAGGGT 0.468 NA A||| 873 0.174321 0.2088 0.1974 5008 , , NA 20318 0.2232 NA 0.0596 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL080071 CCDS8210.1, CCDS60880.1 11q13.4 2012-10-17 2012-05-31 2012-05-31 ENSG00000110200 ENSG00000110200 25906 Anaphase promoting complex subunits 24531 protein-coding gene gene with protein product 614717 chromosome 11 open reading frame 51 C11orf51 NA 21926987 Standard NM_014042 NM_014042 NA Approved HSPC020, DKFZP564M082, APC15 uc001orw.3 P60006 OTTHUMG00000167865 ENST00000227618.4:c.9+56T>C chr11.hg19:g.71822401A>G NA G3V1Q3|Q9CXK2|Q9Y269 hg19 CCDS8210.1 0.02 11.417335 TTTxGGG COVERED NOVEL ANAPC15-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000396695.1 2 46.336334 KEEP 0 0 0 154 4753 AA 1 1 0 - 9 60 339 0 0 20.992192 266 60 9755 526 ENST00000227618.4 0.032727 1 RP11-807H22.5 0 __UNKNOWN__ __UNKNOWN__ 11 71870036 71870036 __UNKNOWN__ RNA SNP A A G rs10751198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71870036A>G ENST00000542477.2 + 0 160 NA NA NA TTTACGAGTGACCCCCCAACT 0.537 NA N||| 1424 0.284345 0.2171 0.2464 5008 , , NA 18747 0.1895 NA 0.3708 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000542477.2: chr11.hg19:g.71870036A>G NA hg19 0.02 2.093996 GTGxCCC COVERED NOVEL RP11-807H22.5-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000396767.2 1 2.402291 KEEP 0 0 0 8 229 AA 0.99257 0.988289 0 + 5 60 172 0 0 11.842717 63 60 2051 101 ENST00000542477.2 0.073529 0.995687 RP11-807H22.5 0 __UNKNOWN__ __UNKNOWN__ 11 71870486 71870486 __UNKNOWN__ RNA SNP T T C rs1540086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71870486T>C ENST00000542477.2 + 0 326 NA NA NA GCTAAAGGTCTTCCCTCTTCC 0.527 NA t||| 1432 0.285942 0.2216 0.2478 5008 , , NA 20259 0.1895 NA 0.3718 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000542477.2: chr11.hg19:g.71870486T>C NA hg19 0.02 2.129663 GTCxTCC COVERED NOVEL RP11-807H22.5-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000396767.2 0 3.910883 KEEP 0 0 0 13 398 TT 0.994391 0.992864 0 + 7 60 260 0 0 19.23851 68 60 2421 93 ENST00000542477.2 0.093333 0.998465 FOLR2 2350 __UNKNOWN__ __UNKNOWN__ 11 71929526 71929526 __UNKNOWN__ Intron SNP T T A rs651646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71929526T>A ENST00000454954.2 + 1 145 FOLR2_ENST00000298223.6_Intron|FOLR2_ENST00000449475.2_Intron P14207 FOLR2_HUMAN folate receptor 2 (fetal) NA NA folic acid transport (GO:0015884) anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020) folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517) breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) CACCGTAGGGTTGGGGAGACT 0.607 NA A||| 2724 0.54393 0.7504 0.3516 5008 , , NA 20250 0.4683 NA 0.4404 False NA ,,, NA NA NA 2504 0.5859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK222539 CCDS8212.1 11q13.3-q14.1 2010-04-08 ENSG00000165457 ENSG00000165457 2350 3793 protein-coding gene gene with protein product 136425 NA 1133088, 7698003 Standard NM_000803 NM_000803 NA Approved uc009ytf.3 P14207 OTTHUMG00000150394 ENST00000454954.2:c.27+1557T>A chr11.hg19:g.71929526T>A NA Q05CA5|Q6GTE8 hg19 0.02 3.995243 GGGxTGG COVERED NOVEL FOLR2-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396779.1 0 2.403626 KEEP 0 0 0 8 210 TT 0.99257 0.992565 0 + 6 60 176 0 0 10.655706 106 60 3486 128 ENST00000454954.2 0.053571 0.999995 INPPL1 3636 __UNKNOWN__ __UNKNOWN__ 11 71941212 71941212 __UNKNOWN__ Silent SNP A A G rs2276048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:71941212A>G ENST00000298229.2 + 9 1191 c.987A>G c.(985-987)tcA>tcG p.S329S INPPL1_ENST00000541756.1_Silent_p.S87S|INPPL1_ENST00000538751.1_Silent_p.S87S NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 329 NA actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886) hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169) breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TTGGGAAGTCACAGAAGTTCA 0.617 NA G||| 1814 0.36222 0.5121 0.2622 5008 , , NA 20209 0.3403 NA 0.2087 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 G 2147,2253 531,1085,584 67 65 66 987 -10.8 0.7 11 dbSNP_100 66 1493,7093 121,1251,2921 no coding-synonymous INPPL1 NM_001567.3 652,2336,3505 GG,GA,AA 17.3888,48.7955,28.0302 329/1259 71941212 3640,9346 2200 4293 6493 SO:0001819 synonymous_variant Y14385 CCDS8213.1 11q23 2013-02-14 ENSG00000165458 ENSG00000165458 3636 Sterile alpha motif (SAM) domain containing, SH2 domain containing 6080 protein-coding gene gene with protein product 51C protein 600829 NA 8530088 Standard NM_001567 NM_001567 NA Approved SHIP2 uc001osf.3 O15357 OTTHUMG00000167879 ENST00000298229.2:c.987A>G chr11.hg19:g.71941212A>G NA B2RTX5|Q13577|Q13578 hg19 CCDS8213.1 0.02 9.155689 GTCxCAG COVERED NOVEL INPPL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396789.1 1 9.897314 KEEP 0 2 72 58 1756 AA 1 1 0 + 12 60 431 0 0 28.707948 204 60 7325 320 ENST00000298229.2 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 72145763 72145763 __UNKNOWN__ IGR SNP T T C rs72970621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:72145763T>C NA NA CLPB (71 upstream) : RP11-169D4.1 (135940 downstream) NA NA NA TATTGGGAAATAGAGTTCGGG 0.438 NA OREG0021194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 37 0.00738818 0.0 0.0101 5008 , , NA 17276 0.0238 NA 0.004 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.72145763T>C 1135 hg19 0.02 -0.438644 AAAxAGA COVERED NOVEL 0 2 5.380626 KEEP 0 0 0 18 525 TT 0.999859 0.959724 0 3 60 109 0 0 7.40437 47 60 1684 83 0.06 0.959859 PDE2A 5138 __UNKNOWN__ __UNKNOWN__ 11 72295530 72295530 __UNKNOWN__ Intron SNP C C A rs148038373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:72295530C>A ENST00000334456.5 - 18 1783 PDE2A_ENST00000444035.2_Intron|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Intron|PDE2A_ENST00000544570.1_Intron NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated NA NA blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626) axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734) calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Caffeine(DB00201)|Tofisopam(DB08811) GTTGCCACCCCCGCTCGCTCG 0.706 NA C||| 162 0.0323482 0.0015 0.0259 5008 , , NA 8236 0.0456 NA 0.0765 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U67733 CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1 11q13.1-q14.1 2008-05-14 ENSG00000186642 ENSG00000186642 5138 3.1.4.17 Phosphodiesterases 8777 protein-coding gene gene with protein product 602658 NA 9210593 Standard NM_002599 NM_002599 NA Approved uc010rrc.2 O00408 OTTHUMG00000102045 ENST00000334456.5:c.1537+64G>T chr11.hg19:g.72295530C>A NA B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1 hg19 CCDS8216.1 0.02 8.554297 CCCxCGC COVERED NOVEL PDE2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219839.2 2 17.453408 KEEP 0 0 0 58 1973 CC 1 1 0 - 10 60 349 0 0 21.864587 218 60 7822 368 ENST00000334456.5 0.04386 1 ARAP1 116985 __UNKNOWN__ __UNKNOWN__ 11 72397200 72397200 __UNKNOWN__ Missense_Mutation SNP C C T rs2291288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:72397200C>T ENST00000393609.3 - 34 4424 c.4222G>A c.(4222-4224)Gtg>Atg p.V1408M ARAP1_ENST00000426523.1_Missense_Mutation_p.V1152M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V1091M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V1397M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.V1163M|ARAP1_ENST00000393605.3_Missense_Mutation_p.V1168M|ARAP1_ENST00000359373.5_Missense_Mutation_p.V1397M|ARAP1-AS1_ENST00000542022.1_RNA NM_001040118.2 NP_001035207.1 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1408 NA V -> M (in Ref. 8; AAH56401). {ECO:0000305}. actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 GCCCGGGACACGCGTGAGGGC 0.627 NA C||| 108 0.0215655 0.0 0.0461 5008 , , NA 18004 0.0714 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Ovarian(102;1198 1520 13195 17913 37529) NA 0 C MET/VAL,MET/VAL,MET/VAL 3,4397 6.2+/-15.9 0,3,2197 40 39 40 4222,3271,3487 5.3 1 11 dbSNP_100 40 3,8583 3.0+/-9.4 0,3,4290 yes missense,missense,missense ARAP1 NM_001040118.2,NM_001135190.1,NM_015242.4 21,21,21 0,6,6487 TT,TC,CC 0.0349,0.0682,0.0462 benign,benign,benign 1408/1451,1091/1134,1163/1206 72397200 6,12980 2200 4293 6493 SO:0001583 missense AF411983 CCDS8217.2, CCDS41687.1, CCDS44671.1 11q13.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000186635 ENSG00000186635 116985 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16925 protein-coding gene gene with protein product 606646 centaurin, delta 2 CENTD2 NA Standard NM_001040118 NM_001040118 NA Approved uc001osu.3 Q96P48 OTTHUMG00000157102 ENST00000393609.3:c.4222G>A chr11.hg19:g.72397200C>T ENSP00000377233:p.Val1408Met NA A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71 hg19 CCDS41687.1 0.02 1.839558 ACAxGCG COVERED 54|54 0.024725274725274724|0.024725274725274724 0|0 0.0|0.0 20|20 0.055248618784530384|0.055248618784530384 33|33 0.057692307692307696|0.057692307692307696 1|1 0.0013192612137203166|0.0013192612137203166 C|C 13.98|13.98 2.400326|2.400326 0.42613|0.42613 6.82E-4|6.82E-4 3.49E-4|3.49E-4 ENSG00000186635|ENSG00000186635 ENST00000536885|ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596 T|T;T;T;T;T;T;T;T 0.31769|0.41400 1.48|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0 5.31|5.31 5.31|5.31 0.75309|0.75309 .|. .|0.415179 .|0.23856 .|N .|0.043891 T|T 0.04272|0.04272 0.0118|0.0118 N|N 0.08118|0.08118 0|0 0.28408|0.28408 N|N 0.91833|0.91833 .|B;D;B;B;B .|0.71674 .|0.074;0.998;0.163;0.074;0.121 .|B;P;B;B;B .|0.48270 .|0.018;0.572;0.036;0.018;0.041 T|T 0.01874|0.01874 -1.1256|-1.1256 7|10 0.48119|0.51188 T|T 0.1|0.08 .|. 17.9566|17.9566 0.89070|0.89070 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 rs2291288;rs17846541;rs17859615;rs2291288|rs2291288;rs17846541;rs17859615;rs2291288 .|1152;1091;1397;1408;1168 .|E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1 .|.;.;.;ARAP1_HUMAN;. H|M 60|1397;1397;1168;1163;1408;1152;1091;201 ENSP00000442746:R60H|ENSP00000352332:V1397M;ENSP00000390461:V1397M;ENSP00000377230:V1168M;ENSP00000335506:V1163M;ENSP00000377233:V1408M;ENSP00000392264:V1152M;ENSP00000403127:V1091M;ENSP00000441741:V201M ENSP00000442746:R60H|ENSP00000335506:V1163M R|V -|- 2|1 0|0 ARAP1|ARAP1 72074848|72074848 0.993000|0.993000 0.37304|0.37304 0.955000|0.955000 0.39395|0.39395 0.373000|0.373000 0.29922|0.29922 3.202000|3.202000 0.51067|0.51067 2.673000|2.673000 0.90976|0.90976 0.555000|0.555000 0.69702|0.69702 CGT|GTG NOVEL ARAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000347428.1 0 7.223024 KEEP 0 0 0 24 810 CC 0.999909 0.999849 0 - 4 60 136 0 0 8.282828 93 60 3014 150 ENST00000393609.3 0.041237 0.99994 ARAP1 116985 __UNKNOWN__ __UNKNOWN__ 11 72410961 72410961 __UNKNOWN__ Intron SNP A A G rs542167924 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:72410961A>G ENST00000393609.3 - 17 2505 ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000393605.3_Intron|ARAP1_ENST00000359373.5_Intron NM_001040118.2 NP_001035207.1 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 NA NA actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270) cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCTCTCTGTCACTCCTGGACA 0.582 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 19321 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Ovarian(102;1198 1520 13195 17913 37529) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF411983 CCDS8217.2, CCDS41687.1, CCDS44671.1 11q13.3 2013-01-11 2008-09-22 2008-09-22 ENSG00000186635 ENSG00000186635 116985 ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16925 protein-coding gene gene with protein product 606646 centaurin, delta 2 CENTD2 NA Standard NM_001040118 NM_001040118 NA Approved uc001osu.3 Q96P48 OTTHUMG00000157102 ENST00000393609.3:c.2303-364T>C chr11.hg19:g.72410961A>G NA A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71 hg19 CCDS41687.1 0.02 -0.385006 GTCxCTC COVERED NOVEL ARAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000347428.1 0 2.706882 KEEP 0 0 0 9 260 AA 0.99254 0.911321 0 - 22 60 693 0 0 66.46875 22 60 812 53 ENST00000393609.3 0.5 0.918171 ARHGEF17 9828 __UNKNOWN__ __UNKNOWN__ 11 73063946 73063946 __UNKNOWN__ Silent SNP C C T rs111995276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:73063946C>T ENST00000263674.3 + 3 3692 c.3342C>T c.(3340-3342)ttC>ttT p.F1114F ARHGEF17_ENST00000536170.1_3'UTR NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1114 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACGAGATCTTCGACCAGATCC 0.617 NA C||| 6 0.00119808 0.0 0.0 5008 , , NA 18275 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 85 73 77 NA NA 11 NA 73063946 2200 4293 6493 SO:0001819 synonymous_variant AF378754 CCDS8221.1 11q13.3 2011-11-16 ENSG00000110237 ENSG00000110237 9828 Rho guanine nucleotide exchange factors 21726 protein-coding gene gene with protein product Rho-specific guanine-nucleotide exchange factor 164 kDa, tumor endothelial marker 4 NA 11559528, 12071859 Standard NM_014786 NM_014786 NA Approved TEM4, KIAA0337, p164-RhoGEF uc001otu.3 Q96PE2 OTTHUMG00000167971 ENST00000263674.3:c.3342C>T chr11.hg19:g.73063946C>T NA B2RP20|Q86XU2|Q8N2S0|Q9Y4G3 hg19 CCDS8221.1 0.02 11.194951 CTTxGAC COVERED NOVEL ARHGEF17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397365.1 2 32.534897 KEEP 0 1 31 119 3969 CC 1 1 0 + 11 60 421 0 0 27.039434 279 60 9788 518 ENST00000263674.3 0.037931 1 MRPL48 51642 __UNKNOWN__ __UNKNOWN__ 11 73499167 73499167 __UNKNOWN__ Intron SNP A A G rs536589585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:73499167A>G ENST00000411840.2 + 1 98 MRPL48_ENST00000310614.7_Intron|MRPL48_ENST00000398483.3_Intron|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Intron Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 NA NA mitochondrial ribosome (GO:0005761) kidney(1) 1 GGGGCGCCCAAGGTCCTTCCC 0.701 NA A||| 4 0.000798722 0.0 0.0 5008 , , NA 15273 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151876 CCDS44676.1 11q13.4 2012-09-13 ENSG00000175581 ENSG00000175581 51642 Mitochondrial ribosomal proteins / large subunits 16653 protein-coding gene gene with protein product 611853 NA 10810093 Standard NM_016055 NM_016055 NA Approved CGI-118 uc001ouh.4 Q96GC5 OTTHUMG00000168048 ENST00000411840.2:c.-530+130A>G chr11.hg19:g.73499167A>G NA B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0 hg19 0.02 1.956525 CCAxGGT COVERED NOVEL MRPL48-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397739.1 2 12.327888 KEEP 0 0 0 41 1209 AA 1 0.997553 0 + 4 60 143 0 0 9.502397 68 60 2476 130 ENST00000411840.2 0.055556 0.997553 P4HA3 283208 __UNKNOWN__ __UNKNOWN__ 11 73978086 73978086 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:73978086A>G ENST00000331597.4 - 0 1887 P4HA3_ENST00000427714.2_3'UTR NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III NA NA endoplasmic reticulum (GO:0005783) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656) NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TCCTACTCTGACTTCCGTGGC 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY327887 CCDS8230.1, CCDS73347.1 11q13 2008-12-09 2008-12-09 ENSG00000149380 283208 30135 protein-coding gene gene with protein product collagen prolyl 4-hydroxylase alpha(III) 608987 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III NA 14500733 Standard NM_182904 XM_005273924 NA Approved C-P4Halpha(III) uc001ouz.3 Q7Z4N8 ENST00000331597.4:c.*207T>C chr11.hg19:g.73978086A>G NA A0AV13|B4DUD3|Q5EBL3|Q5JPA9 hg19 CCDS8230.1 0.02 13.635423 CTGxCTT COVERED NOVEL P4HA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382988.1 1 15.346946 KEEP 0 0 0 51 1664 AA 1 1 0 - 10 60 371 0 0 22.742574 297 60 10466 437 ENST00000331597.4 0.032573 1 PGM2L1 283209 __UNKNOWN__ __UNKNOWN__ 11 74044976 74044976 __UNKNOWN__ 3'UTR SNP C C T rs3193507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74044976C>T ENST00000298198.4 - 0 4901 NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 NA NA glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310) cytosol (GO:0005829) glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TTGTAGTGCCCGAGGCTGAGA 0.398 NA c||| 1871 0.373602 0.0688 0.5058 5008 , , NA 21352 0.5367 NA 0.4662 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB019210 CCDS8231.1 11q13.3 2008-12-01 ENSG00000165434 ENSG00000165434 283209 20898 protein-coding gene gene with protein product glucose-1,6-bisphosphate synthase 611610 NA 17804405 Standard NM_173582 NM_173582 NA Approved FLJ32029, BM32A uc001ovb.1 Q6PCE3 OTTHUMG00000168132 ENST00000298198.4:c.*2721G>A chr11.hg19:g.74044976C>T NA Q96MQ7|Q9UIK3 hg19 CCDS8231.1 0.02 9.551885 GCCxGAG COVERED NOVEL PGM2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398324.1 2 3.746724 KEEP 0 1 33 24 801 CC 0.999931 0.999931 0 - 21 60 781 0 0 58.708598 184 60 6424 252 ENST00000298198.4 0.102439 1 PGM2L1 283209 __UNKNOWN__ __UNKNOWN__ 11 74045742 74045742 __UNKNOWN__ 3'UTR SNP A A G rs1063807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74045742A>G ENST00000298198.4 - 0 4135 NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 NA NA glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310) cytosol (GO:0005829) glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) CGAAACCATGATTTAAGGAAC 0.299 NA A||| 1861 0.371605 0.0635 0.5029 5008 , , NA 16354 0.5367 NA 0.4652 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB019210 CCDS8231.1 11q13.3 2008-12-01 ENSG00000165434 ENSG00000165434 283209 20898 protein-coding gene gene with protein product glucose-1,6-bisphosphate synthase 611610 NA 17804405 Standard NM_173582 NM_173582 NA Approved FLJ32029, BM32A uc001ovb.1 Q6PCE3 OTTHUMG00000168132 ENST00000298198.4:c.*1955T>C chr11.hg19:g.74045742A>G NA Q96MQ7|Q9UIK3 hg19 CCDS8231.1 0.02 8.891903 ATGxTTT COVERED NOVEL PGM2L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398324.1 1 7.05471 KEEP 0 1 33 35 1085 AA 0.999999 0.999999 0 - 11 60 409 0 0 27.369588 201 60 7345 292 ENST00000298198.4 0.051887 1 KCNE3 10008 __UNKNOWN__ __UNKNOWN__ 11 74167634 74167634 __UNKNOWN__ 3'UTR SNP T T C rs41312921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74167634T>C ENST00000310128.4 - 0 1394 RP11-702H23.6_ENST00000530510.1_RNA|RP11-702H23.4_ENST00000533008.1_RNA NM_005472.4 NP_005463.1 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related family, member 3 NA NA regulation of potassium ion transport (GO:0043266) integral component of membrane (GO:0016021) potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249) cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) attttcataatgtttgcaaaa 0.418 NA T||| 266 0.053115 0.0008 0.183 5008 , , NA 17908 0.1161 NA 0.0159 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF076531 CCDS8232.1 11q13.4 2014-09-17 ENSG00000175538 10008 Potassium channels 6243 protein-coding gene gene with protein product 604433 NA 10219239 Standard NM_005472 NM_005472 NA Approved MiRP2, HOKPP uc001ovc.3 Q9Y6H6 ENST00000310128.4:c.*663A>G chr11.hg19:g.74167634T>C NA hg19 CCDS8232.1 0.02 4.159487 TAAxGTT COVERED NOVEL KCNE3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385531.1 0 11.734731 KEEP 0 0 0 39 1209 TT 1 1 0 - 8 60 280 0 0 18.261437 142 60 5181 219 ENST00000310128.4 0.053333 1 POLD3 10714 __UNKNOWN__ __UNKNOWN__ 11 74352201 74352201 __UNKNOWN__ 3'UTR SNP C C G rs1051058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74352201C>G ENST00000263681.2 + 0 1920 NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit NA NA base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) CCTCTGTATTCTAAGAATTCA 0.473 NA C||| 1707 0.340855 0.3464 0.353 5008 , , NA 19322 0.3204 NA 0.2078 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D26018 CCDS8233.1 11q14 2014-06-13 ENSG00000077514 ENSG00000077514 10714 DNA polymerases 20932 protein-coding gene gene with protein product DNA polymerase delta subunit p66, Pol delta C subunit (p66), protein phosphatase 1, regulatory subunit 128 611415 NA 10219083 Standard NM_006591 NM_006591 NA Approved P66, KIAA0039, P68, PPP1R128 uc001ovf.2 Q15054 OTTHUMG00000165621 ENST00000263681.2:c.*390C>G chr11.hg19:g.74352201C>G NA B7ZAI6|Q32MZ9|Q32N00 hg19 CCDS8233.1 0.02 8.619025 ATTxTAA COVERED NOVEL POLD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385376.1 3 18.657961 KEEP 0 0 0 62 2134 CC 1 1 0 + 8 60 284 0 0 17.52711 201 60 7448 320 ENST00000263681.2 0.038278 1 XRRA1 143570 __UNKNOWN__ __UNKNOWN__ 11 74553834 74553834 __UNKNOWN__ 3'UTR SNP C C T rs2298746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74553834C>T ENST00000340360.6 - 0 3121 XRRA1_ENST00000321448.8_3'UTR NM_182969.2 NP_892014.1 X-ray radiation resistance associated 1 NA NA breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 TTTAAAAATACCCTTTTTTGG 0.403 NA C||| 1413 0.282149 0.1445 0.4885 5008 , , NA 23344 0.506 NA 0.2833 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074152 CCDS44680.1, CCDS58159.1, CCDS58160.1 11q13.4 2010-03-19 ENSG00000166435 ENSG00000166435 143570 18868 protein-coding gene gene with protein product 609788 NA 12908878, 17295261 Standard NM_182969 NM_182969 NA Approved FLJ00225 uc009yub.3 Q6P2D8 ENST00000340360.6:c.*411G>A chr11.hg19:g.74553834C>T NA hg19 CCDS44680.1 0.02 4.510659 ATAxCCT COVERED NOVEL XRRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384715.1 6 7.825034 KEEP 0 0 0 26 901 CC 0.999957 0.99995 0 - 5 60 182 0 0 11.757507 105 60 3861 158 ENST00000340360.6 0.045455 0.999993 XRRA1 143570 __UNKNOWN__ __UNKNOWN__ 11 74559446 74559446 __UNKNOWN__ Missense_Mutation SNP G G C rs4944960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74559446G>C ENST00000340360.6 - 15 1749 c.1418C>G c.(1417-1419)aCg>aGg p.T473R XRRA1_ENST00000321448.8_Missense_Mutation_p.T198R|XRRA1_ENST00000527087.1_Missense_Mutation_p.T386R NM_182969.2 NP_892014.1 X-ray radiation resistance associated 1 NA NA breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 CTTGGTTGTCGTCATGCGCGG 0.527 NA G||| 1417 0.282947 0.1452 0.4885 5008 , , NA 20319 0.5089 NA 0.2843 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 G ARG/THR 663,3461 68,527,1467 53 58 57 1418 -4.1 0 11 dbSNP_111 57 2197,6165 288,1621,2272 yes missense XRRA1 NM_182969.1 71 356,2148,3739 CC,CG,GG 26.2736,16.0766,22.9057 benign 473/793 74559446 2860,9626 2062 4181 6243 SO:0001583 missense AK074152 CCDS44680.1, CCDS58159.1, CCDS58160.1 11q13.4 2010-03-19 ENSG00000166435 ENSG00000166435 143570 18868 protein-coding gene gene with protein product 609788 NA 12908878, 17295261 Standard NM_182969 NM_182969 NA Approved FLJ00225 uc009yub.3 Q6P2D8 ENST00000340360.6:c.1418C>G chr11.hg19:g.74559446G>C ENSP00000339918:p.Thr473Arg NA hg19 CCDS44680.1 0.02 9.098293 GTCxTCA COVERED 748 0.3424908424908425 67 0.13617886178861788 161 0.4447513812154696 301 0.5262237762237763 219 0.28891820580474936 G 13.66 2.302324 0.40694 0.160766 0.262736 ENSG00000166435 ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087 T;T;T 0.50813 0.76;1.48;0.73 3.91 -4.08 0.03963 . 1.344830 0.04736 N 0.421977 T 0.00012 0.0000 L 0.51422 1.61 0.80722 P 0.0 P;D;P;P;P 0.59357 0.691;0.985;0.897;0.772;0.772 B;P;B;B;B 0.55999 0.171;0.789;0.417;0.424;0.424 T 0.44544 -0.9321 9 0.12103 T 0.63 -0.0273 0.2488 0.00202 0.3433:0.1407:0.2311:0.2849 rs4944960;rs52834190;rs57640924;rs4944960 473;29;386;417;459 Q6P2D8;E9PP69;Q6P2D8-2;Q6P2D8-4;Q6P2D8-3 XRRA1_HUMAN;.;.;.;. R 473;198;459;417;386 ENSP00000339918:T473R;ENSP00000319303:T198R;ENSP00000435838:T386R ENSP00000319303:T198R T - 2 0 XRRA1 74237094 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.008000 0.12788 -0.876000 0.04017 0.591000 0.81541 ACG NOVEL XRRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384715.1 2 12.639476 KEEP 0 0 0 42 1421 GG 1 1 0 - 7 60 274 0 0 17.082018 227 60 8091 322 ENST00000340360.6 0.029915 1 XRRA1 143570 __UNKNOWN__ __UNKNOWN__ 11 74559481 74559481 __UNKNOWN__ Silent SNP C C T rs4944961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74559481C>T ENST00000340360.6 - 15 1714 c.1383G>A c.(1381-1383)ccG>ccA p.P461P XRRA1_ENST00000321448.8_Silent_p.P186P|XRRA1_ENST00000527087.1_Silent_p.P374P NM_182969.2 NP_892014.1 X-ray radiation resistance associated 1 NA NA breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GAGGCTGCTTCGGCACCTTTG 0.532 NA C||| 1400 0.279553 0.0946 0.4957 5008 , , NA 19444 0.5089 NA 0.3181 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 C 538,3472 48,442,1515 44 46 45 1383 -4.9 1 11 dbSNP_111 45 2506,5822 377,1752,2035 no coding-synonymous XRRA1 NM_182969.1 425,2194,3550 TT,TC,CC 30.0913,13.4165,24.6717 461/793 74559481 3044,9294 2005 4164 6169 SO:0001819 synonymous_variant AK074152 CCDS44680.1, CCDS58159.1, CCDS58160.1 11q13.4 2010-03-19 ENSG00000166435 ENSG00000166435 143570 18868 protein-coding gene gene with protein product 609788 NA 12908878, 17295261 Standard NM_182969 NM_182969 NA Approved FLJ00225 uc009yub.3 Q6P2D8 ENST00000340360.6:c.1383G>A chr11.hg19:g.74559481C>T NA hg19 CCDS44680.1 0.02 6.102779 CTTxGGC COVERED NOVEL XRRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384715.1 1 5.649607 KEEP 0 1 29 29 968 CC 0.999997 0.999997 0 - 7 60 257 0 0 16.228609 171 60 5833 249 ENST00000340360.6 0.039326 1 XRRA1 143570 __UNKNOWN__ __UNKNOWN__ 11 74660143 74660143 __UNKNOWN__ 5'UTR SNP G G C rs2165163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74660143G>C ENST00000340360.6 - 0 89 XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_5'UTR NM_182969.2 NP_892014.1 X-ray radiation resistance associated 1 NA NA breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 CAGTGTAGGCGGCAACCGACG 0.667 NA G||| 1346 0.26877 0.0915 0.4827 5008 , , NA 15334 0.5069 NA 0.2853 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK074152 CCDS44680.1, CCDS58159.1, CCDS58160.1 11q13.4 2010-03-19 ENSG00000166435 ENSG00000166435 143570 18868 protein-coding gene gene with protein product 609788 NA 12908878, 17295261 Standard NM_182969 NM_182969 NA Approved FLJ00225 uc009yub.3 Q6P2D8 ENST00000340360.6:c.-243C>G chr11.hg19:g.74660143G>C NA hg19 CCDS44680.1 0.02 4.36503 GGCxGCA COVERED NOVEL XRRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384715.1 1 13.041487 KEEP 0 3 102 79 2529 GG 1 1 0 - 6 60 221 0 0 14.249294 132 60 4306 254 ENST00000340360.6 0.043478 1 SLCO2B1 11309 __UNKNOWN__ __UNKNOWN__ 11 74883577 74883577 __UNKNOWN__ Missense_Mutation SNP G G A rs12422149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:74883577G>A ENST00000531756.1 + 2 482 c.170G>A c.(169-171)cGa>cAa p.R57Q SLCO2B1_ENST00000454962.2_Missense_Mutation_p.R85Q|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.R85Q|SLCO2B1_ENST00000289575.5_Missense_Mutation_p.R312Q|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R290Q|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.R196Q|SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.R168Q O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 312 NA liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124) CAGTTTCGGCGAAAGGTCTTA 0.562 NA G||| 1051 0.209864 0.0923 0.3646 5008 , , NA 19572 0.3204 NA 0.0954 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 G GLN/ARG,GLN/ARG,GLN/ARG 409,3991 202.8+/-225.5 20,369,1811 103 88 93 869,503,935 -2.2 0 11 dbSNP_120 93 869,7717 195.8+/-240.9 40,789,3464 yes missense,missense,missense SLCO2B1 NM_001145211.2,NM_001145212.2,NM_007256.4 43,43,43 60,1158,5275 AA,AG,GG 10.1211,9.2955,9.8414 benign,benign,benign 290/688,168/566,312/710 74883577 1278,11708 2200 4293 6493 SO:0001583 missense AB026256 CCDS8235.1, CCDS44683.1, CCDS53679.1 11q13 2013-05-22 2003-11-25 2003-11-26 11309 Solute carriers 10962 protein-coding gene gene with protein product 604988 solute carrier family 21 (organic anion transporter), member 9 SLC21A9 NA Standard NM_007256 NM_007256 NA Approved OATP-B, OATP2B1 uc001owb.3 O94956 ENST00000531756.1:c.170G>A chr11.hg19:g.74883577G>A ENSP00000432650:p.Arg57Gln NA A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1 hg19 0.02 20.844028 GGCxAAA COVERED 442 0.20238095238095238 58 0.11788617886178862 106 0.292817679558011 205 0.3583916083916084 73 0.09630606860158311 G 14.19 2.460877 0.43736 0.092955 0.101211 ENSG00000137491 ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359 T;T;T;T;T;T;T 0.80738 1.16;-1.41;-1.41;-1.41;-1.41;-1.41;1.16 5.65 -2.21 0.06973 Major facilitator superfamily domain, general substrate transporter (1); 0.773311 0.11037 N 0.606507 T 0.00012 0.0000 L 0.42245 1.32 0.80722 P 0.0 B;B;B;B 0.29037 0.147;0.147;0.231;0.147 B;B;B;B 0.20384 0.029;0.029;0.029;0.029 T 0.09185 -1.0686 9 0.13853 T 0.58 . 6.2971 0.21091 0.5347:0.1582:0.3071:0.0 rs12422149;rs56415681;rs59614522;rs12422149 168;57;85;312 E9PPU8;E9PPJ4;O94956-2;O94956 .;.;.;SO2B1_HUMAN Q 312;85;196;57;168;85;290 ENSP00000289575:R312Q;ENSP00000341286:R85Q;ENSP00000434112:R196Q;ENSP00000432650:R57Q;ENSP00000436324:R168Q;ENSP00000389653:R85Q;ENSP00000388912:R290Q ENSP00000289575:R312Q R + 2 0 SLCO2B1 74561225 0.001000 0.12720 0.000000 0.03702 0.272000 0.26649 -0.094000 0.11094 -0.241000 0.09681 -0.136000 0.14681 CGA NOVEL SLCO2B1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383935.1 4 22.438631 KEEP 0 2 61 96 3279 GG 1 1 0 + 14 60 512 0 0 30.089795 492 60 17753 777 ENST00000531756.1 0.027668 1 RPS3 6188 __UNKNOWN__ __UNKNOWN__ 11 75110589 75110589 __UNKNOWN__ 5'UTR SNP A A G rs3133187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:75110589A>G ENST00000278572.6 + 0 16 RPS3_ENST00000530164.1_5'UTR|RPS3_ENST00000526608.1_5'UTR|RPS3_ENST00000524851.1_5'UTR|RPS3_ENST00000531188.1_5'UTR|RPS3_ENST00000534440.1_5'UTR|RPS3_ENST00000527446.1_5'UTR P23396 RS3_HUMAN ribosomal protein S3 NA NA cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587) damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 GCGCGGCGGCAAGATGGCAGT 0.652 NA A||| 583 0.116414 0.034 0.0937 5008 , , NA 16663 0.1875 NA 0.0656 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 A 171,4229 107.8+/-146.2 3,165,2032 42 44 44 3.5 1 11 dbSNP_103 44 566,8020 149.2+/-204.3 24,518,3751 no utr-5 RPS3 NM_001005.3 27,683,5783 GG,GA,AA 6.5921,3.8864,5.6753 75110589 737,12249 2200 4293 6493 SO:0001623 5_prime_UTR_variant CCDS8236.1, CCDS58161.1 11q13.3-q13.5 2011-04-05 ENSG00000149273 6188 S ribosomal proteins 10420 protein-coding gene gene with protein product IMR-90 ribosomal protein S3, 40S ribosomal protein S3 600454 NA 1712897, 7789996 Standard NM_001005 NM_001005 NA Approved FLJ26283, FLJ27450, MGC87870, S3 uc031qcs.1 P23396 ENST00000278572.6:c.-3A>G chr11.hg19:g.75110589A>G NA B2R7N5|J3KN86|Q498B5|Q8NI95 hg19 CCDS58161.1 0.02 15.460329 GGCxAGA COVERED NOVEL RPS3-014 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000384310.1 2 62.262878 KEEP 0 0 0 207 5987 AA 1 1 0 + 13 60 491 0 0 31.114507 341 70 12186 680 ENST00000278572.6 0.036723 1 RPS3 6188 __UNKNOWN__ __UNKNOWN__ 11 75110627 75110627 __UNKNOWN__ Intron SNP C C T rs17879266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:75110627C>T ENST00000278572.6 + 1 48 RPS3_ENST00000530164.1_Intron|RPS3_ENST00000526608.1_Intron|RPS3_ENST00000524851.1_Intron|RPS3_ENST00000531188.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Intron P23396 RS3_HUMAN ribosomal protein S3 NA NA cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587) damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 GGAAGGTGAGCCTCTGGGGAC 0.657 NA c||| 23 0.00459265 0.0015 0.0173 5008 , , NA 15649 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 5,4395 8.1+/-20.4 0,5,2195 44 47 46 -11.1 0 11 dbSNP_124 46 0,8586 0,0,4293 no intron RPS3 NM_001005.3 0,5,6488 TT,TC,CC 0.0,0.1136,0.0385 75110627 5,12981 2200 4293 6493 SO:0001627 intron_variant CCDS8236.1, CCDS58161.1 11q13.3-q13.5 2011-04-05 ENSG00000149273 6188 S ribosomal proteins 10420 protein-coding gene gene with protein product IMR-90 ribosomal protein S3, 40S ribosomal protein S3 600454 NA 1712897, 7789996 Standard NM_001005 NM_001005 NA Approved FLJ26283, FLJ27450, MGC87870, S3 uc031qcs.1 P23396 ENST00000278572.6:c.30+6C>T chr11.hg19:g.75110627C>T NA B2R7N5|J3KN86|Q498B5|Q8NI95 hg19 CCDS58161.1 0.02 10.131316 GAGxCTC COVERED NOVEL RPS3-014 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000384310.1 1 36.993624 KEEP 0 0 0 123 4333 CC 1 1 0 + 13 60 458 0 0 29.77834 239 70 8784 464 ENST00000278572.6 0.051587 1 RPS3 6188 __UNKNOWN__ __UNKNOWN__ 11 75114071 75114071 __UNKNOWN__ Intron SNP A A G rs3094303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:75114071A>G ENST00000278572.6 + 4 416 RPS3_ENST00000530164.1_3'UTR|RPS3_ENST00000526608.1_Intron|RPS3_ENST00000524851.1_Intron|RPS3_ENST00000531188.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Intron|RPS3_ENST00000529285.1_Intron P23396 RS3_HUMAN ribosomal protein S3 NA NA cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587) damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735) endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 TACTGGTAAGATTTCAACAGG 0.408 NA a||| 672 0.134185 0.0991 0.0951 5008 , , NA 23219 0.1895 NA 0.0666 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8236.1, CCDS58161.1 11q13.3-q13.5 2011-04-05 ENSG00000149273 6188 S ribosomal proteins 10420 protein-coding gene gene with protein product IMR-90 ribosomal protein S3, 40S ribosomal protein S3 600454 NA 1712897, 7789996 Standard NM_001005 NM_001005 NA Approved FLJ26283, FLJ27450, MGC87870, S3 uc031qcs.1 P23396 ENST00000278572.6:c.398+581A>G chr11.hg19:g.75114071A>G NA B2R7N5|J3KN86|Q498B5|Q8NI95 hg19 CCDS58161.1 0.02 8.77823 AAGxTTT COVERED NOVEL RPS3-014 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000384310.1 0 17.452329 KEEP 0 0 0 58 1826 AA 1 1 0 + 12 60 445 0 0 29.887785 213 60 7605 331 ENST00000278572.6 0.053333 1 KLHL35 283212 __UNKNOWN__ __UNKNOWN__ 11 75133765 75133765 __UNKNOWN__ Silent SNP G G A rs11539810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:75133765G>A ENST00000376292.4 - 6 1172 c.951C>T c.(949-951)ggC>ggT p.G317G KLHL35_ENST00000539798.1_Silent_p.G537G Q6PF15 KLH35_HUMAN kelch-like family member 35 537 NA p.G537G(1) lung(2)|stomach(1) 3 CATCCCGCCCGCCAAGGATGT 0.592 NA G||| 544 0.108626 0.034 0.0432 5008 , , NA 20945 0.1885 NA 0.0656 False NA ,,, NA NA NA 2504 0.2178 NA NA NA Colon(77;683 1691 18820 23811) NA 1 Substitution - coding silent(1) stomach(1) G 145,3883 0,145,1869 103 104 104 1611 -10.7 0.6 11 dbSNP_120 104 568,7822 24,520,3651 yes coding-synonymous KLHL35 NM_001039548.2 24,665,5520 AA,AG,GG 6.77,3.5998,5.7417 537/584 75133765 713,11705 2014 4195 6209 SO:0001819 synonymous_variant CCDS44685.1, CCDS44685.2 11q13.4 2013-02-22 2013-02-22 ENSG00000149243 ENSG00000149243 283212 Kelch-like, BTB/POZ domain containing 26597 protein-coding gene gene with protein product kelch-like 35 (Drosophila) NA Standard NM_173583 NM_001039548 NA Approved FLJ33790 uc001owm.2 Q6PF15 OTTHUMG00000133573 ENST00000376292.4:c.951C>T chr11.hg19:g.75133765G>A NA A2RU06|F5H412|Q86XM7|Q8NBB1 hg19 0.02 10.608132 CCCxCCA COVERED NOVEL KLHL35-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000257675.3 3 18.633168 KEEP 0 0 0 62 2158 GG 1 1 0 - 8 60 296 0 0 17.831361 258 60 8937 410 ENST00000376292.4 0.030075 1 RP11-111M22.2 0 __UNKNOWN__ __UNKNOWN__ 11 76117161 76117161 __UNKNOWN__ 3'UTR SNP C C T rs867248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76117161C>T ENST00000321844.4 + 0 3344 RP11-111M22.2_ENST00000531207.1_Intron NM_001282456.1 NP_001269385.1 NA NA NA ggactagaggcatgtatcacc 0.522 NA C||| 1198 0.239217 0.1974 0.3948 5008 , , NA 20324 0.2619 NA 0.2366 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000321844.4:c.*2075C>T chr11.hg19:g.76117161C>T NA hg19 0.02 1.760062 AGGxATG COVERED NOVEL RP11-111M22.2-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000383194.1 2 4.213682 KEEP 0 0 0 14 491 CC 0.995343 0.994833 0 + 4 60 135 0 0 8.451229 79 60 3024 103 ENST00000321844.4 0.048193 0.999487 C11orf30 56946 __UNKNOWN__ __UNKNOWN__ 11 76210929 76210929 __UNKNOWN__ Intron SNP C C T rs61894534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76210929C>T ENST00000533248.1 + 9 1444 C11orf30_ENST00000529032.1_Intron|C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000334736.3_Intron|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Intron|C11orf30_ENST00000525919.1_Intron|C11orf30_ENST00000524767.1_Intron Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 NA NA chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 aagacctctgcccttttgtag 0.433 NA C||| 763 0.152356 0.0174 0.2435 5008 , , NA 15818 0.253 NA 0.162 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF226047 CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1 11q13.5 2010-07-01 ENSG00000158636 ENSG00000158636 56946 18071 protein-coding gene gene with protein product 608574 NA Standard NM_020193 XM_005274106 NA Approved EMSY uc001oxl.3 Q7Z589 OTTHUMG00000165282 ENST00000533248.1:c.1405+3416C>T chr11.hg19:g.76210929C>T NA B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0 hg19 0.02 -0.096177 CTGxCCT UNCOVERED NOVEL C11orf30-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000383204.1 1 2.407948 KEEP 0 0 0 8 291 CC 0.99257 0.119541 0 + 3 60 116 0 0 10.238217 8 60 256 21 ENST00000533248.1 0.272727 0.120436 LRRC32 2615 __UNKNOWN__ __UNKNOWN__ 11 76368639 76368639 __UNKNOWN__ 5'UTR SNP A A C rs7685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76368639A>C ENST00000464145.1 - 0 540 LRRC32_ENST00000407242.2_3'UTR|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_3'UTR|LRRC32_ENST00000404995.1_3'UTR Q14392 LRC32_HUMAN leucine rich repeat containing 32 NA NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628) integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GCCTGGGCTGAGGCCTGGGCC 0.527 NA C||| 1698 0.339058 0.2852 0.4294 5008 , , NA 21351 0.3452 NA 0.3559 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Z24680 CCDS8245.1 11q13.5-q14 2008-02-05 2005-02-25 2005-02-25 ENSG00000137507 ENSG00000137507 2615 4161 protein-coding gene gene with protein product 137207 glycoprotein A repetitions predominant D11S833E, GARP NA 8180135, 1543912 Standard NM_005512 NM_005512 NA Approved uc001oxq.4 Q14392 OTTHUMG00000133687 ENST00000464145.1:c.-26T>G chr11.hg19:g.76368639A>C NA Q86V06 hg19 0.02 6.224088 CTGxGGC COVERED NOVEL LRRC32-003 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000257928.1 1 15.949283 KEEP 0 0 0 53 1706 AA 1 1 0 - 6 60 221 0 0 13.609922 170 60 5986 280 ENST00000464145.1 0.034091 1 LRRC32 2615 __UNKNOWN__ __UNKNOWN__ 11 76370640 76370640 __UNKNOWN__ Intron SNP C C T rs3781698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76370640C>T ENST00000464145.1 - 2 101 LRRC32_ENST00000407242.2_3'UTR|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_3'UTR|LRRC32_ENST00000404995.1_3'UTR Q14392 LRC32_HUMAN leucine rich repeat containing 32 NA NA negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628) integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GAGTGTCTCCCGGCTTCTTTA 0.562 NA C||| 26 0.00519169 0.0 0.0 5008 , , NA 18389 0.0248 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 50 58 55 NA NA 11 NA 76370640 2200 4292 6492 SO:0001627 intron_variant Z24680 CCDS8245.1 11q13.5-q14 2008-02-05 2005-02-25 2005-02-25 ENSG00000137507 ENSG00000137507 2615 4161 protein-coding gene gene with protein product 137207 glycoprotein A repetitions predominant D11S833E, GARP NA 8180135, 1543912 Standard NM_005512 NM_005512 NA Approved uc001oxq.4 Q14392 OTTHUMG00000133687 ENST00000464145.1:c.466-1562G>A chr11.hg19:g.76370640C>T NA Q86V06 hg19 0.02 1.936668 TCCxGGC COVERED NOVEL LRRC32-003 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000257928.1 1 5.116457 KEEP 0 0 0 17 583 CC 0.999366 0.999306 0 - 5 60 184 0 0 12.235333 92 60 3201 119 ENST00000464145.1 0.051546 0.99994 ACER3 55331 __UNKNOWN__ __UNKNOWN__ 11 76701562 76701562 __UNKNOWN__ Intron SNP G G A rs199916449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76701562G>A ENST00000532485.1 + 6 506 ACER3_ENST00000526597.1_Intron|ACER3_ENST00000533873.1_Intron|ACER3_ENST00000538157.1_Intron|ACER3_ENST00000530182.1_Intron NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 NA NA ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173) phytoceramidase activity (GO:0070774) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 ATTCACATGTGTTTTTTCTAA 0.358 NA G||| 6 0.00119808 0.0 0.0 5008 , , NA 19961 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 3,4397 6.2+/-15.9 0,3,2197 237 233 234 -1.4 0.1 11 234 0,8584 0,0,4292 no intron ACER3 NM_018367.5 0,3,6489 AA,AG,GG 0.0,0.0682,0.0231 76701562 3,12981 2200 4292 6492 SO:0001627 intron_variant AF214454 CCDS8247.1, CCDS73352.1 11q13.5 2013-01-25 2008-12-19 2008-12-19 ENSG00000078124 ENSG00000078124 55331 3.5.1.23 Alkaline ceramidase 16066 protein-coding gene gene with protein product alkaline phytoceramidase phytoceramidase, alkaline PHCA NA 11356846, 18619555 Standard NM_018367 XM_005274090 NA Approved FLJ11238, APHC uc009yum.1 Q9NUN7 OTTHUMG00000165225 ENST00000532485.1:c.403-21G>A chr11.hg19:g.76701562G>A NA B2RC99 hg19 CCDS8247.1 0.02 6.686059 TGTxTTT COVERED NOVEL ACER3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382770.2 0 9.631304 KEEP 0 0 0 32 1138 GG 0.999997 0.999997 0 + 6 60 221 0 0 13.923314 150 60 5647 233 ENST00000532485.1 0.038462 1 ACER3 55331 __UNKNOWN__ __UNKNOWN__ 11 76732746 76732746 __UNKNOWN__ 3'UTR SNP T T C rs591043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76732746T>C ENST00000532485.1 + 0 2283 ACER3_ENST00000544113.1_3'UTR NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 NA NA ceramide metabolic process (GO:0006672)|phytosphingosine biosynthetic process (GO:0071602)|positive regulation of cell proliferation (GO:0008284)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of Golgi membrane (GO:0030173) phytoceramidase activity (GO:0070774) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 AAAATCATTTTTTTCTTATGC 0.284 NA T||| 1297 0.258986 0.1702 0.2651 5008 , , NA 20232 0.3651 NA 0.2396 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF214454 CCDS8247.1, CCDS73352.1 11q13.5 2013-01-25 2008-12-19 2008-12-19 ENSG00000078124 ENSG00000078124 55331 3.5.1.23 Alkaline ceramidase 16066 protein-coding gene gene with protein product alkaline phytoceramidase phytoceramidase, alkaline PHCA NA 11356846, 18619555 Standard NM_018367 XM_005274090 NA Approved FLJ11238, APHC uc009yum.1 Q9NUN7 OTTHUMG00000165225 ENST00000532485.1:c.*1375T>C chr11.hg19:g.76732746T>C NA B2RC99 hg19 CCDS8247.1 0.02 7.083307 TTTxTTT COVERED NOVEL ACER3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000382770.2 4 7.521745 KEEP 0 0 0 25 775 TT 0.999931 0.999931 0 + 6 60 234 0 0 14.841636 174 60 6349 240 ENST00000532485.1 0.033333 1 CAPN5 726 __UNKNOWN__ __UNKNOWN__ 11 76795839 76795839 __UNKNOWN__ Intron SNP A A G rs12362168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76795839A>G ENST00000456580.2 + 2 102 CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron O15484 CAN5_HUMAN calpain 5 NA NA proteolysis (GO:0006508)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 tccgcttcacagggCACATCA 0.617 NA a||| 2077 0.414736 0.525 0.2968 5008 , , NA 19958 0.5317 NA 0.2694 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8248.1 11q14 2014-01-29 ENSG00000149260 726 1482 protein-coding gene gene with protein product 602537 vitreoretinopathy, neovascular inflammatory VRNI NA 9503024, 9367857, 23055945 Standard NM_004055 NM_004055 NA Approved nCL-3, HTRA3, ADNIV uc001oxx.3 O15484 ENST00000456580.2:c.-35-59A>G chr11.hg19:g.76795839A>G NA O00263 hg19 0.02 14.824907 CACxGGG COVERED NOVEL CAPN5-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000382568.1 3 32.39208 KEEP 0 1 32 119 3760 AA 1 1 0 + 15 60 530 0 0 33.020543 349 60 12897 577 ENST00000456580.2 0.041209 1 CAPN5 726 __UNKNOWN__ __UNKNOWN__ 11 76830148 76830148 __UNKNOWN__ Missense_Mutation SNP C C T rs143467039 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:76830148C>T ENST00000456580.2 + 10 1497 c.1360C>T c.(1360-1362)Cgc>Tgc p.R454C CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R414C|CAPN5_ENST00000278559.3_Missense_Mutation_p.R414C O15484 CAN5_HUMAN calpain 5 414 Domain III. NA proteolysis (GO:0006508)|signal transduction (GO:0007165) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) calcium-dependent cysteine-type endopeptidase activity (GO:0004198) NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GCGGTCTACGCGCCGGGAGGG 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 C CYS/ARG 1,4399 2.1+/-5.4 0,1,2199 78 63 68 1240 5.2 1 11 dbSNP_134 68 0,8584 0,0,4292 no missense CAPN5 NM_004055.4 180 0,1,6491 TT,TC,CC 0.0,0.0227,0.0077 probably-damaging 414/641 76830148 1,12983 2200 4292 6492 SO:0001583 missense CCDS8248.1 11q14 2014-01-29 ENSG00000149260 726 1482 protein-coding gene gene with protein product 602537 vitreoretinopathy, neovascular inflammatory VRNI NA 9503024, 9367857, 23055945 Standard NM_004055 NM_004055 NA Approved nCL-3, HTRA3, ADNIV uc001oxx.3 O15484 ENST00000456580.2:c.1360C>T chr11.hg19:g.76830148C>T ENSP00000409996:p.Arg454Cys NA O00263 hg19 0.02 7.960684 ACGxGCC COVERED . . . . . . . . . . C 20.7 4.030865 0.75504 2.27E-4 0.0 ENSG00000149260 ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318 D;D;D 0.89123 -2.47;-2.47;-2.47 5.22 5.22 0.72569 Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1); 0.275476 0.37304 N 0.002141 D 0.95739 0.8614 M 0.93638 3.44 0.58432 D 0.999998 D;D;D;D 0.89917 1.0;0.999;0.999;1.0 D;D;P;P 0.64877 0.916;0.93;0.892;0.88 D 0.96697 0.9515 10 0.87932 D 0 . 18.1321 0.89605 0.0:1.0:0.0:0.0 . 452;454;454;414 Q59GM2;E7EV01;Q6ZRM8;O15484 .;.;.;CAN5_HUMAN C 414;454;414;454;454 ENSP00000278559:R414C;ENSP00000432332:R414C;ENSP00000409996:R454C ENSP00000278559:R414C R + 1 0 CAPN5 76507796 0.846000 0.29590 1.000000 0.80357 0.904000 0.53231 2.311000 0.43717 2.603000 0.88011 0.655000 0.94253 CGC NOVEL CAPN5-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000382568.1 3 16.252049 KEEP 0 0 0 54 1882 CC 1 1 0 + 7 60 250 0 0 14.485971 243 60 8390 397 ENST00000456580.2 0.028 1 AAMDC 28971 __UNKNOWN__ __UNKNOWN__ 11 77587973 77587973 __UNKNOWN__ Intron SNP T T C rs616354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77587973T>C ENST00000532481.1 + 3 318 AAMDC_ENST00000527134.1_Intron|AAMDC_ENST00000304716.8_Intron Q9H7C9 AAMDC_HUMAN adipogenesis associated, Mth938 domain containing NA NA negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737) NA GCAGCAGCCATGGTTCTTCAT 0.448 NA T||| 1713 0.342053 0.3979 0.2795 5008 , , NA 19717 0.4683 NA 0.3549 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC016854 CCDS8254.1 11q14.1 2012-10-08 2012-10-08 2012-10-08 ENSG00000087884 ENSG00000087884 28971 30205 protein-coding gene gene with protein product chromosome 11 open reading frame 67 C11orf67 NA 12477932 Standard NM_024684 NM_024684 NA Approved PTD015, FLJ21035, CK067 uc001oyq.3 Q9H7C9 OTTHUMG00000166651 ENST00000532481.1:c.228+7110T>C chr11.hg19:g.77587973T>C NA Q96AQ4|Q9Y6B1 hg19 0.02 3.78698 CCAxGGT COVERED NOVEL AAMDC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390974.1 3 7.820864 KEEP 0 0 0 26 767 TT 0.999957 0.999957 0 + 7 60 239 0 0 15.028446 140 60 5123 197 ENST00000532481.1 0.047619 1 KCTD14 65987 __UNKNOWN__ __UNKNOWN__ 11 77728364 77728364 __UNKNOWN__ Intron SNP C C T rs72943029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77728364C>T ENST00000533144.1 - 3 226 NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|KCTD14_ENST00000353172.5_Intron Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 NA NA protein homooligomerization (GO:0051260) endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) CTCCCCTGAGCGCATTACTTA 0.483 NA C||| 54 0.0107827 0.0008 0.0 5008 , , NA 18160 0.0446 NA 0.005 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748) NA 0 C ,,, 6,4386 0,6,2190 23 22 22 ,,, 2.2 0 11 dbSNP_130 22 31,8517 0,31,4243 no intron,intron,intron,intron KCTD14,NDUFC2-KCTD14 NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3 ,,, 0,37,6433 TT,TC,CC 0.3627,0.1366,0.2859 ,,, ,,, 77728364 37,12903 2196 4274 6470 SO:0001627 intron_variant BC001062 CCDS8255.2, CCDS60908.1 11q13.4 2013-06-20 2013-06-20 ENSG00000151364 ENSG00000151364 65987 23295 protein-coding gene gene with protein product potassium channel tetramerisation domain containing 14 NA 12477932 Standard NM_023930 NM_023930 NA Approved MGC2376 uc001oyw.4 Q9BQ13 OTTHUMG00000150224 ENST00000533144.1:c.1-48G>A chr11.hg19:g.77728364C>T NA B2R9R8 hg19 0.02 6.632661 GAGxGCA COVERED NOVEL KCTD14-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390937.1 1 4.51298 KEEP 0 0 0 15 459 CC 0.99649 0.99649 0 - 6 60 221 0 0 13.996786 146 60 4658 175 ENST00000533144.1 0.039474 1 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77909014 77909014 __UNKNOWN__ Missense_Mutation SNP G G A rs2510044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77909014G>A ENST00000529308.1 + 3 967 c.706G>A c.(706-708)Gtg>Atg p.V236M USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 236 NA V -> M (in dbSNP:rs2510044). protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCTGGCCAGCGTGGTCCAGCA 0.612 NA G||| 1022 0.204073 0.0325 0.2968 5008 , , NA 21718 0.3591 NA 0.1561 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 G MET/VAL 179,4141 7,165,1988 64 69 67 706 4.8 1 11 dbSNP_100 67 1165,7347 80,1005,3171 yes missense USP35 NM_020798.2 21 87,1170,5159 AA,AG,GG 13.6866,4.1435,10.4738 probably-damaging 236/1019 77909014 1344,11488 2160 4256 6416 SO:0001583 missense AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.706G>A chr11.hg19:g.77909014G>A ENSP00000431876:p.Val236Met NA hg19 CCDS41693.1 0.02 16.335274 AGCxTGG COVERED 442 0.20238095238095238 21 0.042682926829268296 88 0.2430939226519337 209 0.36538461538461536 124 0.16358839050131926 G 11.80 1.745434 0.30955 0.041435 0.136866 ENSG00000118369 ENST00000529308 T 0.46451 0.87 4.82 4.82 0.62117 Armadillo-like helical (1); 0.311212 0.22400 N 0.060547 T 0.00012 0.0000 L 0.48642 1.525 0.09310 P 1.0 D 0.76494 0.999 P 0.59703 0.862 T 0.26815 -1.0092 9 0.72032 D 0.01 -35.837 18.1059 0.89520 0.0:0.0:1.0:0.0 rs2510044;rs58071390;rs2510044 236 Q9P2H5 UBP35_HUMAN M 236 ENSP00000431876:V236M ENSP00000431876:V236M V + 1 0 USP35 77586662 1.000000 0.71417 0.992000 0.48379 0.090000 0.18270 5.378000 0.66190 2.506000 0.84524 0.561000 0.74099 GTG NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 4 27.987787 KEEP 0 0 0 93 3180 GG 1 1 0 + 26 60 939 0 0 65.460471 348 60 11935 584 ENST00000529308.1 0.069519 1 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77920457 77920457 __UNKNOWN__ Intron SNP G G A rs2256051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77920457G>A ENST00000529308.1 + 10 1853 USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Intron|USP35_ENST00000526425.1_Intron NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) AAGGGGACCCGCATGTACATG 0.557 NA a||| 1685 0.336462 0.4607 0.3357 5008 , , NA 18950 0.3968 NA 0.1809 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 1624,2504 325,974,765 15 17 16 -4.9 0 11 dbSNP_100 16 1344,7058 116,1112,2973 no intron USP35 NM_020798.2 441,2086,3738 AA,AG,GG 15.9962,39.3411,23.6872 77920457 2968,9562 2064 4201 6265 SO:0001627 intron_variant AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.1593-37G>A chr11.hg19:g.77920457G>A NA hg19 CCDS41693.1 0.02 1.763426 CCCxCAT COVERED NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 1 7.220895 KEEP 0 0 0 24 758 GG 0.999909 0.999817 0 + 8 60 289 0 0 20.837831 86 60 2803 121 ENST00000529308.1 0.085106 0.999907 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77920563 77920563 __UNKNOWN__ Silent SNP G G T rs2510045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77920563G>T ENST00000529308.1 + 10 1923 c.1662G>T c.(1660-1662)ccG>ccT p.P554P USP35_ENST00000530267.1_Silent_p.P122P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.P140P|USP35_ENST00000526425.1_Silent_p.P285P NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 554 USP. NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CGCCCTCTCCGCCCGAGGAGC 0.567 NA g||| 1316 0.26278 0.1952 0.3156 5008 , , NA 18184 0.3968 NA 0.1779 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 669,3251 55,559,1346 35 40 38 1662 -6.3 0 11 dbSNP_100 38 1291,6959 105,1081,2939 no coding-synonymous USP35 NM_020798.2 160,1640,4285 TT,TG,GG 15.6485,17.0663,16.1052 554/1019 77920563 1960,10210 1960 4125 6085 SO:0001819 synonymous_variant AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.1662G>T chr11.hg19:g.77920563G>T NA hg19 CCDS41693.1 0.02 13.16995 TCCxCCC COVERED NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 0 32.800231 KEEP 0 0 0 109 3720 GG 1 1 0 + 12 60 435 0 0 27.306309 291 60 10029 509 ENST00000529308.1 0.039604 1 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77920930 77920930 __UNKNOWN__ Missense_Mutation SNP A A G rs2511188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77920930A>G ENST00000529308.1 + 10 2290 c.2029A>G c.(2029-2031)Ata>Gta p.I677V USP35_ENST00000530267.1_Missense_Mutation_p.I245V|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.I263V|USP35_ENST00000526425.1_Missense_Mutation_p.I408V NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 677 USP. NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GGAGGAAAGGATAgagaggga 0.572 NA G||| 1753 0.35004 0.4425 0.3501 5008 , , NA 17920 0.4087 NA 0.2356 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 G VAL/ILE 1585,2413 324,937,738 57 75 69 2029 4.2 0 11 dbSNP_100 69 1661,6659 177,1307,2676 yes missense USP35 NM_020798.2 29 501,2244,3414 GG,GA,AA 19.9639,39.6448,26.3517 benign 677/1019 77920930 3246,9072 1999 4160 6159 SO:0001583 missense AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.2029A>G chr11.hg19:g.77920930A>G ENSP00000431876:p.Ile677Val NA hg19 CCDS41693.1 0.02 4.664346 AGGxTAG COVERED 734 0.3360805860805861 210 0.4268292682926829 112 0.30939226519337015 232 0.40559440559440557 180 0.23746701846965698 G 1.578 -0.532275 0.04112 0.396448 0.199639 ENSG00000118369 ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425 T;T;T;T 0.06371 3.33;3.47;3.47;3.31 5.18 4.24 0.50183 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 2.086910 0.02959 N 0.142834 T 0.00012 0.0000 N 0.05351 -0.065 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.46775 -0.9167 9 0.13470 T 0.59 -0.7345 7.0124 0.24869 0.0915:0.1736:0.7349:0.0 rs2511188;rs3740675;rs52810330;rs59657177;rs2511188 677;263 Q9P2H5;E7EWV7 UBP35_HUMAN;. V 245;677;263;408 ENSP00000435468:I245V;ENSP00000431876:I677V;ENSP00000400825:I263V;ENSP00000434942:I408V ENSP00000400825:I263V I + 1 0 USP35 77598578 0.000000 0.05858 0.003000 0.11579 0.004000 0.04260 0.431000 0.21444 0.737000 0.32582 -0.119000 0.15052 ATA NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 1 9.628306 KEEP 0 0 0 32 980 AA 0.999997 0.999997 0 + 8 60 303 0 0 20.880871 129 60 4583 201 ENST00000529308.1 0.058394 1 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77925233 77925233 __UNKNOWN__ 3'UTR SNP C C G rs2450137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77925233C>G ENST00000529308.1 + 0 3692 USP35_ENST00000441408.2_3'UTR|USP35_ENST00000526425.1_3'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ATTTTCCTTCCGACTGCTGTA 0.507 NA c||| 1510 0.301518 0.3101 0.3343 5008 , , NA 12853 0.3998 NA 0.1928 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.*374C>G chr11.hg19:g.77925233C>G NA hg19 CCDS41693.1 0.02 5.695932 TTCxGAC COVERED NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 1 12.93984 KEEP 0 0 0 43 1447 CC 1 1 0 + 7 60 249 0 0 15.431002 171 60 5673 275 ENST00000529308.1 0.039326 1 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77925273 77925273 __UNKNOWN__ 3'UTR SNP T T G rs2450136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77925273T>G ENST00000529308.1 + 0 3732 USP35_ENST00000441408.2_3'UTR|USP35_ENST00000526425.1_3'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ATCCAAGCCTTGCACAAAGGG 0.512 NA t||| 1508 0.301118 0.3109 0.3329 5008 , , NA 9768 0.3998 NA 0.1918 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.*414T>G chr11.hg19:g.77925273T>G NA hg19 CCDS41693.1 0.02 4.522784 CCTxGCA COVERED NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 1 10.290712 KEEP 0 1 7 37 1121 TT 1 0.999999 0 + 5 60 181 0 0 11.482544 114 60 3986 200 ENST00000529308.1 0.042017 0.999999 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77925573 77925573 __UNKNOWN__ 3'UTR SNP T T C rs1055248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77925573T>C ENST00000529308.1 + 0 4032 USP35_ENST00000526425.1_3'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TCATGTTCCTTGTGAAGTGTG 0.562 NA t||| 1534 0.30631 0.329 0.3329 5008 , , NA 13443 0.4008 NA 0.1918 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.*714T>C chr11.hg19:g.77925573T>C NA hg19 CCDS41693.1 0.02 9.126162 CCTxGTG COVERED NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 1 13.239049 KEEP 0 0 0 44 1368 TT 1 1 0 + 7 60 269 0 0 16.945096 201 60 7325 295 ENST00000529308.1 0.033654 1 USP35 57558 __UNKNOWN__ __UNKNOWN__ 11 77925708 77925708 __UNKNOWN__ 3'UTR SNP C C G rs1055250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77925708C>G ENST00000529308.1 + 0 4167 USP35_ENST00000526425.1_3'UTR NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) ubiquitin-specific protease activity (GO:0004843) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TAACCGAAGACAAGACAGACA 0.493 NA G||| 1656 0.330671 0.4327 0.3329 5008 , , NA 16312 0.4008 NA 0.1819 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037793 CCDS41693.1 11q13.4 2008-02-05 2005-08-08 ENSG00000118369 57558 Ubiquitin-specific peptidases 20061 protein-coding gene gene with protein product ubiquitin specific protease 35 NA 12838346 Standard XM_290527 NM_020798 NA Approved KIAA1372 uc021qny.1 Q9P2H5 ENST00000529308.1:c.*849C>G chr11.hg19:g.77925708C>G NA hg19 CCDS41693.1 0.02 12.629405 AGAxAAG COVERED NOVEL USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000390026.1 2 18.059233 KEEP 0 0 0 60 2159 CC 1 1 0 + 9 60 343 0 0 21.661641 248 60 9418 398 ENST00000529308.1 0.035019 1 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77926769 77926769 __UNKNOWN__ 3'UTR SNP A A G rs1046780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77926769A>G ENST00000361507.4 - 0 5665 GAB2_ENST00000340149.2_3'UTR NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) CAGGTACCCCATTGTGGTCCC 0.542 NA A||| 1772 0.353834 0.497 0.3473 5008 , , NA 17307 0.3998 NA 0.1958 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.*3549T>C chr11.hg19:g.77926769A>G NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 13.045129 CCCxTTG COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 0 17.750213 KEEP 0 0 0 59 1785 AA 1 1 0 - 15 60 540 0 0 35.199828 290 60 10366 433 ENST00000361507.4 0.04918 1 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77927101 77927101 __UNKNOWN__ 3'UTR SNP A A G rs2511162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77927101A>G ENST00000361507.4 - 0 5333 GAB2_ENST00000340149.2_3'UTR NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TGCCCACCCCAATCCCCCAGA 0.522 NA G||| 1940 0.38738 0.6059 0.3573 5008 , , NA 20264 0.4137 NA 0.1958 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.*3217T>C chr11.hg19:g.77927101A>G NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 5.772512 CCCxATC COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 4 10.228962 KEEP 0 0 0 34 1026 AA 0.999998 0.999998 0 - 8 60 262 0 0 16.262082 151 60 5394 212 ENST00000361507.4 0.050314 1 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77930138 77930138 __UNKNOWN__ 3'UTR SNP T T C rs1485483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77930138T>C ENST00000361507.4 - 0 2296 GAB2_ENST00000340149.2_3'UTR NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GGAGGTGCCTTGATCAGGCCC 0.552 NA T||| 1110 0.221645 0.059 0.304 5008 , , NA 20959 0.3938 NA 0.1779 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.*180A>G chr11.hg19:g.77930138T>C NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 4.948312 CCTxGAT COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 1 9.328671 KEEP 0 0 0 31 993 TT 0.999997 0.999995 0 - 9 60 315 0 0 22.021345 108 60 3886 183 ENST00000361507.4 0.076923 0.999998 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77930345 77930345 __UNKNOWN__ Silent SNP T T C rs2450122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77930345T>C ENST00000361507.4 - 10 2089 c.2004A>G c.(2002-2004)tcA>tcG p.S668S GAB2_ENST00000340149.2_Silent_p.S630S NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 668 NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TGGAAGGCTCTGAGGACTGCC 0.612 NA C||| 1325 0.264577 0.1989 0.3156 5008 , , NA 19086 0.3978 NA 0.1779 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 C , 794,3606 750.6+/-412.1 79,636,1485 112 93 100 1890,2004 -8.8 0.7 11 dbSNP_100 100 1387,7197 753.7+/-407.5 117,1153,3022 no coding-synonymous,coding-synonymous GAB2 NM_012296.3,NM_080491.2 , 196,1789,4507 CC,CT,TT 16.158,18.0455,16.7976 , 630/639,668/677 77930345 2181,10803 2200 4292 6492 SO:0001819 synonymous_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.2004A>G chr11.hg19:g.77930345T>C NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 2.29632 CTCxGAG COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 1 5.113587 KEEP 0 0 0 17 503 TT 0.999366 0.978906 0 - 4 60 130 0 0 8.656628 52 60 1921 80 ENST00000361507.4 0.071429 0.979526 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77930499 77930499 __UNKNOWN__ Intron SNP G G A rs901104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77930499G>A ENST00000361507.4 - 10 1973 GAB2_ENST00000340149.2_Intron NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GTAGCTGTGAGTTACCAGTTA 0.562 NA G||| 1121 0.223842 0.059 0.3026 5008 , , NA 20371 0.3938 NA 0.175 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 G , 289,4111 160.3+/-192.7 10,269,1921 75 63 67 , 0.1 0 11 dbSNP_86 67 1363,7221 263.5+/-285.0 117,1129,3046 no intron,intron GAB2 NM_012296.3,NM_080491.2 , 127,1398,4967 AA,AG,GG 15.8784,6.5682,12.7234 , , 77930499 1652,11332 2200 4292 6492 SO:0001627 intron_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.1888-38C>T chr11.hg19:g.77930499G>A NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 2.270041 TGAxTTA COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 1 5.417346 KEEP 0 0 0 18 635 GG 0.999859 0.986015 0 - 6 60 218 0 0 16.240022 53 60 1943 96 ENST00000361507.4 0.101695 0.986153 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77937800 77937800 __UNKNOWN__ Silent SNP G G A rs2248407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77937800G>A ENST00000361507.4 - 4 1003 c.918C>T c.(916-918)ttC>ttT p.F306F GAB2_ENST00000340149.2_Silent_p.F268F NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 306 NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) GGAGGTCCCCGAACTCCCTGC 0.557 NA A||| 1582 0.315895 0.3888 0.3285 5008 , , NA 17019 0.3978 NA 0.1789 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 A , 1490,2910 676.3+/-403.2 249,992,959 68 64 65 804,918 -1.1 1 11 dbSNP_100 65 1378,7206 754.1+/-407.5 116,1146,3030 no coding-synonymous,coding-synonymous GAB2 NM_012296.3,NM_080491.2 , 365,2138,3989 AA,AG,GG 16.0531,33.8636,22.0887 , 268/639,306/677 77937800 2868,10116 2200 4292 6492 SO:0001819 synonymous_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.918C>T chr11.hg19:g.77937800G>A NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 8.912654 CCCxAAC COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 1 23.207473 KEEP 0 1 31 88 2959 GG 1 1 0 - 19 60 667 0 0 47.797945 201 60 7039 400 ENST00000361507.4 0.086364 1 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 77954001 77954001 __UNKNOWN__ Intron SNP G G A rs2512520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:77954001G>A ENST00000361507.4 - 3 706 GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Intron NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) ttgagatcaggagttcgagac 0.483 NA G||| 1132 0.226038 0.0567 0.304 5008 , , NA 16877 0.4008 NA 0.1769 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.620+7201C>T chr11.hg19:g.77954001G>A NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 -0.043867 CAGxAGT UNCOVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 1 3.009791 KEEP 1 0 0 10 352 GG 0.99254 0.023894 0 - 2 60 76 0 0 7.092793 3 60 110 21 ENST00000361507.4 0.4 0.024074 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 78128775 78128775 __UNKNOWN__ 5'UTR SNP C C T rs11237488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:78128775C>T ENST00000361507.4 - 0 77 GAB2_ENST00000526030.1_5'UTR|RP11-452H21.1_ENST00000534168.1_RNA NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) ATGCTGCCGGCCTGGAGCCCC 0.776 NA C||| 998 0.199281 0.0136 0.3055 5008 , , NA 3060 0.4067 NA 0.1561 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 C 100,3864 0,100,1882 5 7 6 2 0 11 dbSNP_120 6 842,7048 35,772,3138 no utr-5 GAB2 NM_080491.2 35,872,5020 TT,TC,CC 10.6717,2.5227,7.9467 78128775 942,10912 1982 3945 5927 SO:0001623 5_prime_UTR_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.-9G>A chr11.hg19:g.78128775C>T NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 2.126382 CGGxCTG COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 0 44.233867 KEEP 0 0 0 147 5301 CC 1 0.992926 0 - 6 60 217 0 0 15.917258 58 60 2112 319 ENST00000361507.4 0.09375 0.992926 GAB2 9846 __UNKNOWN__ __UNKNOWN__ 11 78128797 78128797 __UNKNOWN__ 5'UTR SNP C C T rs881338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:78128797C>T ENST00000361507.4 - 0 55 GAB2_ENST00000526030.1_5'UTR|RP11-452H21.1_ENST00000534168.1_RNA NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 NA NA cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) CGCCGGGTCGCGCGGACGAGG 0.791 NA C||| 1188 0.23722 0.0356 0.3228 5008 , , NA 2861 0.4226 NA 0.2028 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 C 178,3506 6,166,1670 4 5 5 -3.2 0 11 dbSNP_86 5 1209,6229 94,1021,2604 no utr-5 GAB2 NM_080491.2 100,1187,4274 TT,TC,CC 16.2544,4.8317,12.4708 78128797 1387,9735 1842 3719 5561 SO:0001623 5_prime_UTR_variant AB011143 CCDS8259.1, CCDS8260.1 11q13.4-q13.5 2013-01-10 ENSG00000033327 ENSG00000033327 9846 Pleckstrin homology (PH) domain containing 14458 protein-coding gene gene with protein product Grb2-associated binder 2 606203 NA 10391903, 10068651 Standard NM_080491 NM_080491 NA Approved KIAA0571 uc001ozh.3 Q9UQC2 OTTHUMG00000166673 ENST00000361507.4:c.-31G>A chr11.hg19:g.78128797C>T NA A2RRM2|A6NEW9|A7MD36|O60317 hg19 CCDS8259.1 0.02 2.08804 TCGxGCG COVERED NOVEL GAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391085.1 0 35.187348 KEEP 0 0 0 117 3823 CC 1 0.981955 0 - 5 60 175 0 0 12.530602 52 60 1677 232 ENST00000361507.4 0.087719 0.981955 NARS2 79731 __UNKNOWN__ __UNKNOWN__ 11 78176991 78176991 __UNKNOWN__ Silent SNP G G A rs117996746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:78176991G>A ENST00000528850.1 - 11 1350 c.414C>T c.(412-414)ttC>ttT p.F138F NARS2_ENST00000281038.5_Silent_p.F365F Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 365 NA asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrion (GO:0005739) asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AATTAATAACGAAGACAGGTA 0.413 NA G||| 25 0.00499201 0.0 0.0 5008 , , NA 18004 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 3,4397 6.2+/-15.9 0,3,2197 143 138 140 1095 -1.5 0.9 11 dbSNP_132 140 0,8584 0,0,4292 no coding-synonymous NARS2 NM_024678.5 0,3,6489 AA,AG,GG 0.0,0.0682,0.0231 365/478 78176991 3,12981 2200 4292 6492 SO:0001819 synonymous_variant BC007800 CCDS8261.1, CCDS58164.1 11q14.1 2011-07-01 2007-02-23 ENSG00000137513 ENSG00000137513 79731 6.1.1.22 Aminoacyl tRNA synthetases / Class II 26274 protein-coding gene gene with protein product asparagine tRNA ligase 2, mitochondrial (putative) 612803 NA 15779907 Standard NM_024678 NM_024678 NA Approved FLJ23441, SLM5 uc001ozi.3 Q96I59 OTTHUMG00000166702 ENST00000528850.1:c.414C>T chr11.hg19:g.78176991G>A NA G3V178 hg19 CCDS58164.1 0.02 11.188443 AACxAAG COVERED NOVEL NARS2-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000391139.1 4 11.440456 KEEP 0 2 59 59 1921 GG 1 1 0 - 8 60 304 0 0 18.60227 260 60 9042 402 ENST00000528850.1 0.029851 1 NARS2 79731 __UNKNOWN__ __UNKNOWN__ 11 78180179 78180179 __UNKNOWN__ Intron SNP A A G rs11237514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:78180179A>G ENST00000528850.1 - 10 1282 NARS2_ENST00000281038.5_Intron Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) NA NA asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrion (GO:0005739) asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AGCAAATGCCATATTTTGCTA 0.269 NA A||| 1275 0.254593 0.1225 0.3386 5008 , , NA 19337 0.4177 NA 0.1978 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007800 CCDS8261.1, CCDS58164.1 11q14.1 2011-07-01 2007-02-23 ENSG00000137513 ENSG00000137513 79731 6.1.1.22 Aminoacyl tRNA synthetases / Class II 26274 protein-coding gene gene with protein product asparagine tRNA ligase 2, mitochondrial (putative) 612803 NA 15779907 Standard NM_024678 NM_024678 NA Approved FLJ23441, SLM5 uc001ozi.3 Q96I59 OTTHUMG00000166702 ENST00000528850.1:c.345+113T>C chr11.hg19:g.78180179A>G NA G3V178 hg19 CCDS58164.1 0.02 5.176982 GCCxTAT COVERED NOVEL NARS2-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000391139.1 1 4.602797 KEEP 0 1 7 18 581 AA 0.99986 0.99986 0 - 7 60 234 0 0 14.075702 163 60 6030 194 ENST00000528850.1 0.041176 1 TENM4 26011 __UNKNOWN__ __UNKNOWN__ 11 78498022 78498022 __UNKNOWN__ Silent SNP C C T rs11237621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:78498022C>T ENST00000278550.7 - 16 2748 c.2286G>A c.(2284-2286)ccG>ccA p.P762P NM_001098816.2 NP_001092286.2 Q6N022 TEN4_HUMAN teneurin transmembrane protein 4 762 EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634) protein homodimerization activity (GO:0042803) NA CGGCACAGCGCGGGTGGCAGG 0.711 NA C||| 978 0.195288 0.1679 0.1369 5008 , , NA 14764 0.4107 NA 0.1173 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 C 599,3493 45,509,1492 9 12 11 2286 -5.1 1 11 dbSNP_120 11 974,7342 76,822,3260 no coding-synonymous ODZ4 NM_001098816.2 121,1331,4752 TT,TC,CC 11.7124,14.6383,12.6773 762/2770 78498022 1573,10835 2046 4158 6204 SO:0001819 synonymous_variant AB037723 CCDS44688.1 11q13 2012-10-02 2012-10-02 2012-10-02 ENSG00000149256 26011 29945 protein-coding gene gene with protein product 610084 odz, odd Oz/ten-m homolog 4 (Drosophila) ODZ4 NA 12000766, 10625539 Standard NM_001098816 NA Approved KIAA1302, Ten-M4 uc001ozl.4 Q6N022 ENST00000278550.7:c.2286G>A chr11.hg19:g.78498022C>T NA A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2 hg19 CCDS44688.1 0.02 8.83916 GCGxGGG COVERED 433 0.19826007326007325 66 0.13414634146341464 60 0.16574585635359115 230 0.4020979020979021 77 0.10158311345646438 C 11.63 1.696210 0.30052 0.146383 0.117124 ENSG00000149256 ENST00000533525 . . . 4.98 -5.1 0.02911 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.43245 -0.9403 3 . . . . 6.1571 0.20344 0.2448:0.2697:0.0:0.4855 rs11237621 . . . H 76 . . R - 2 0 ODZ4 78175670 0.000000 0.05858 0.968000 0.41197 0.997000 0.91878 -6.232000 0.00074 -0.702000 0.05056 0.655000 0.94253 CGC NOVEL TENM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391406.2 1 26.483012 KEEP 0 0 0 88 2967 CC 1 1 0 - 16 60 570 0 0 39.843451 201 60 6538 368 ENST00000278550.7 0.073733 1 PRCP 5547 __UNKNOWN__ __UNKNOWN__ 11 82535963 82535963 __UNKNOWN__ Silent SNP C C T rs4759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82535963C>T ENST00000313010.3 - 9 1670 c.1476G>A c.(1474-1476)gcG>gcA p.A492A PRCP_ENST00000535099.1_Silent_p.A387A|PRCP_ENST00000393399.2_Silent_p.A513A NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 492 NA angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155) basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886) serine-type carboxypeptidase activity (GO:0004185) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GCTGCTTTCCCGCACTGTCAT 0.403 NA C||| 984 0.196486 0.0272 0.1124 5008 , , NA 20304 0.5496 NA 0.0726 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 C , 145,4261 100.7+/-139.4 2,141,2060 60 58 59 1476,1539 -10.5 0 11 dbSNP_52 59 699,7901 172.9+/-223.5 38,623,3639 no coding-synonymous,coding-synonymous PRCP NM_005040.2,NM_199418.2 , 40,764,5699 TT,TC,CC 8.1279,3.291,6.4893 , 492/497,513/518 82535963 844,12162 2203 4300 6503 SO:0001819 synonymous_variant BC001500, BI827978, L13977 CCDS8262.1, CCDS41695.1 11q14 2005-10-04 ENSG00000137509 5547 9344 protein-coding gene gene with protein product 176785 NA 8344943 Standard NM_005040 NM_199418 NA Approved PCP, HUMPCP uc001ozr.3 P42785 ENST00000313010.3:c.1476G>A chr11.hg19:g.82535963C>T NA A8MU24|B2R7B7|B3KRK5|B5BU34 hg19 CCDS8262.1 0.02 4.66759 TCCxGCA COVERED NOVEL PRCP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391792.1 1 6.620706 KEEP 0 0 0 22 727 CC 0.999879 0.999879 0 - 13 60 492 0 0 36.244497 136 60 4816 203 ENST00000313010.3 0.087248 1 C11orf82 0 __UNKNOWN__ __UNKNOWN__ 11 82643760 82643760 __UNKNOWN__ Missense_Mutation SNP G G T rs7947780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82643760G>T ENST00000533655.1 + 6 1592 c.1380G>T c.(1378-1380)agG>agT p.R460S C11orf82_ENST00000329143.3_Missense_Mutation_p.R159S|C11orf82_ENST00000430323.2_Missense_Mutation_p.R460S|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 DDIAS_HUMAN 460 NA R -> S (in dbSNP:rs7947780). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ACCACAGCAGGTTATCTGTGA 0.413 NA G||| 1540 0.307508 0.1793 0.4049 5008 , , NA 22107 0.3244 NA 0.3579 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 G SER/ARG 984,3422 368.1+/-318.5 105,774,1324 77 76 76 1380 2.4 0.1 11 dbSNP_116 76 3028,5572 467.0+/-366.9 521,1986,1793 yes missense C11orf82 NM_145018.3 110 626,2760,3117 TT,TG,GG 35.2093,22.3332,30.8473 benign 460/999 82643760 4012,8994 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000533655.1:c.1380G>T chr11.hg19:g.82643760G>T ENSP00000435421:p.Arg460Ser NA Q96LK6|Q9H856 hg19 CCDS8263.1 0.02 35.838485 CAGxTTA COVERED 665 0.30448717948717946 93 0.18902439024390244 128 0.35359116022099446 172 0.3006993006993007 272 0.35883905013192613 G 3.944 -0.013559 0.07727 0.223332 0.352093 ENSG00000165490 ENST00000430323;ENST00000533655;ENST00000329143 T;T;T 0.38722 1.12;1.12;1.12 5.84 2.37 0.29283 . 0.621729 0.16187 N 0.225579 T 0.00012 0.0000 L 0.50333 1.59 0.80722 P 0.0 B 0.20780 0.048 B 0.15870 0.014 T 0.38265 -0.9669 8 . . . . 5.6558 0.17642 0.2556:0.0:0.6159:0.1285 rs7947780;rs17571913;rs17857189;rs59924014;rs7947780 460 Q8IXT1 NOXIN_HUMAN S 460;460;159 ENSP00000414687:R460S;ENSP00000435421:R460S;ENSP00000329930:R159S . R + 3 2 C11orf82 82321408 0.001000 0.12720 0.089000 0.20774 0.053000 0.15095 0.093000 0.15086 0.534000 0.28695 0.655000 0.94253 AGG NOVEL C11orf82-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391936.1 6 11.174324 KEEP 0 4 119 79 2805 GG 1 1 0 + 40 60 1434 0 0 92.221682 822 60 30110 1119 ENST00000533655.1 0.046404 1 C11orf82 0 __UNKNOWN__ __UNKNOWN__ 11 82644904 82644904 __UNKNOWN__ Missense_Mutation SNP G G A rs7130899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82644904G>A ENST00000533655.1 + 6 2736 c.2524G>A c.(2524-2526)Gtt>Att p.V842I C11orf82_ENST00000329143.3_Missense_Mutation_p.V541I|C11orf82_ENST00000430323.2_Missense_Mutation_p.V842I|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000528759.1_3'UTR NM_145018.3 NP_659455.3 Q8IXT1 DDIAS_HUMAN 842 NA V -> I (in dbSNP:rs7130899). {ECO:0000269|PubMed:15489334}. apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 TGTATCTGGTGTTTCACAACC 0.408 NA A||| 2772 0.553514 0.7678 0.6369 5008 , , NA 18048 0.3442 NA 0.498 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 A ILE/VAL 3205,1201 416.7+/-337.7 1179,847,177 53 53 53 2524 -8 0 11 dbSNP_116 53 4310,4290 570.3+/-389.3 1085,2140,1075 yes missense C11orf82 NM_145018.3 29 2264,2987,1252 AA,AG,GG 49.8837,27.2583,42.219 benign 842/999 82644904 7515,5491 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000533655.1:c.2524G>A chr11.hg19:g.82644904G>A ENSP00000435421:p.Val842Ile NA Q96LK6|Q9H856 hg19 CCDS8263.1 0.02 37.089897 GGTxTTT COVERED 1150 0.5265567765567766 373 0.758130081300813 220 0.6077348066298343 177 0.3094405594405594 380 0.5013192612137203 A 2.376 -0.343140 0.05243 0.727417 0.501163 ENSG00000165490 ENST00000430323;ENST00000533655;ENST00000329143 T;T;T 0.17054 2.56;2.56;2.3 5.45 -8.02 0.01118 . 1.828400 0.02661 N 0.107500 T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.35798 -0.9774 8 . . . . 2.7784 0.05354 0.1081:0.2063:0.3774:0.3082 rs7130899;rs17650919;rs17846253;rs17859275;rs56943641;rs7130899 842 Q8IXT1 NOXIN_HUMAN I 842;842;541 ENSP00000414687:V842I;ENSP00000435421:V842I;ENSP00000329930:V541I . V + 1 0 C11orf82 82322552 0.000000 0.05858 0.000000 0.03702 0.033000 0.12548 -0.653000 0.05360 -1.988000 0.00980 -0.352000 0.07741 GTT NOVEL C11orf82-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391936.1 6 18.484242 KEEP 0 2 61 83 2847 GG 1 1 0 + 58 60 2033 0 0 138.745981 809 60 30105 1113 ENST00000533655.1 0.066897 1 RAB30 27314 __UNKNOWN__ __UNKNOWN__ 11 82686632 82686632 __UNKNOWN__ 3'UTR SNP C C T rs1060296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82686632C>T ENST00000533486.1 - 0 7471 RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family NA NA Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 ATCACAAAACCGAGATTCATG 0.353 NA T||| 2720 0.543131 0.7708 0.5259 5008 , , NA 17451 0.3472 NA 0.499 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U57092 CCDS8264.1 11q12-q14 2008-07-21 ENSG00000137502 27314 RAB, member RAS oncogene 9770 protein-coding gene gene with protein product 605693 NA 8863739, 9792283 Standard NM_014488 NM_014488 NA Approved uc001ozu.3 Q15771 ENST00000533486.1:c.*6575G>A chr11.hg19:g.82686632C>T NA Q6FGK1|Q6MZH2|Q96CI8 hg19 CCDS8264.1 0.02 11.540523 AACxGAG COVERED NOVEL RAB30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392141.1 4 10.568914 KEEP 0 1 34 47 1574 CC 1 1 0 - 13 60 482 0 0 31.951973 249 60 8612 364 ENST00000533486.1 0.049618 1 RAB30 27314 __UNKNOWN__ __UNKNOWN__ 11 82689169 82689169 __UNKNOWN__ 3'UTR SNP C C T rs4944421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82689169C>T ENST00000533486.1 - 0 4934 RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family NA NA Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 AATTCTTTAGCGAAGTCTCAA 0.338 NA C||| 1029 0.205471 0.056 0.3559 5008 , , NA 20224 0.2143 NA 0.3032 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U57092 CCDS8264.1 11q12-q14 2008-07-21 ENSG00000137502 27314 RAB, member RAS oncogene 9770 protein-coding gene gene with protein product 605693 NA 8863739, 9792283 Standard NM_014488 NM_014488 NA Approved uc001ozu.3 Q15771 ENST00000533486.1:c.*4038G>A chr11.hg19:g.82689169C>T NA Q6FGK1|Q6MZH2|Q96CI8 hg19 CCDS8264.1 0.02 10.70648 TAGxGAA COVERED NOVEL RAB30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392141.1 3 15.517507 KEEP 0 2 58 72 2468 CC 1 1 0 - 17 60 609 0 0 41.573826 249 60 8716 399 ENST00000533486.1 0.06391 1 RAB30 27314 __UNKNOWN__ __UNKNOWN__ 11 82690433 82690433 __UNKNOWN__ 3'UTR SNP C C T rs2170008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82690433C>T ENST00000533486.1 - 0 3670 RAB30_ENST00000534141.1_3'UTR|RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family NA NA Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 AAAGCAATTTCTCTTTTTTCA 0.338 NA C||| 1029 0.205471 0.056 0.3559 5008 , , NA 16561 0.2143 NA 0.3032 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U57092 CCDS8264.1 11q12-q14 2008-07-21 ENSG00000137502 27314 RAB, member RAS oncogene 9770 protein-coding gene gene with protein product 605693 NA 8863739, 9792283 Standard NM_014488 NM_014488 NA Approved uc001ozu.3 Q15771 ENST00000533486.1:c.*2774G>A chr11.hg19:g.82690433C>T NA Q6FGK1|Q6MZH2|Q96CI8 hg19 CCDS8264.1 0.02 4.504846 TTTxTCT COVERED NOVEL RAB30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392141.1 1 5.953016 KEEP 0 1 26 29 1026 CC 0.999997 0.999996 0 - 17 60 616 0 0 48.321624 105 60 4016 173 ENST00000533486.1 0.139344 0.999999 RAB30 27314 __UNKNOWN__ __UNKNOWN__ 11 82704967 82704967 __UNKNOWN__ Intron SNP C C A rs71465967|rs200470465|rs3793986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82704967C>A ENST00000533486.1 - 4 462 RAB30_ENST00000260056.2_Intron|RAB30_ENST00000525117.1_Intron|RAB30_ENST00000527633.1_Intron|RAB30_ENST00000534141.1_Intron|RAB30_ENST00000532548.1_Intron|RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family NA NA Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 TGGCTGAGTGCATTGTTTCCA 0.373 NA C||| 1313 0.262181 0.1422 0.3559 5008 , , NA 18783 0.2986 NA 0.3052 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U57092 CCDS8264.1 11q12-q14 2008-07-21 ENSG00000137502 27314 RAB, member RAS oncogene 9770 protein-coding gene gene with protein product 605693 NA 8863739, 9792283 Standard NM_014488 NM_014488 NA Approved uc001ozu.3 Q15771 ENST00000533486.1:c.177+113G>T chr11.hg19:g.82704967C>A NA Q6FGK1|Q6MZH2|Q96CI8 hg19 CCDS8264.1 0.02 17.038401 GTGxATT COVERED NOVEL RAB30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392141.1 2 11.206288 KEEP 0 2 65 60 2101 CC 1 1 0 - 22 60 782 0 0 51.2888 396 60 14681 517 ENST00000533486.1 0.052632 1 RAB30 27314 __UNKNOWN__ __UNKNOWN__ 11 82704968 82704968 __UNKNOWN__ Intron SNP A A T rs3793987|rs71465967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82704968A>T ENST00000533486.1 - 4 462 RAB30_ENST00000260056.2_Intron|RAB30_ENST00000525117.1_Intron|RAB30_ENST00000527633.1_Intron|RAB30_ENST00000534141.1_Intron|RAB30_ENST00000532548.1_Intron|RP11-659G9.3_ENST00000527550.1_RNA NM_014488.3 NP_055303.2 Q15771 RAB30_HUMAN RAB30, member RAS oncogene family NA NA Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 GGCTGAGTGCATTGTTTCCAT 0.373 NA A||| 1312 0.261981 0.1422 0.3559 5008 , , NA 18879 0.2986 NA 0.3042 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U57092 CCDS8264.1 11q12-q14 2008-07-21 ENSG00000137502 27314 RAB, member RAS oncogene 9770 protein-coding gene gene with protein product 605693 NA 8863739, 9792283 Standard NM_014488 NM_014488 NA Approved uc001ozu.3 Q15771 ENST00000533486.1:c.177+112T>A chr11.hg19:g.82704968A>T NA Q6FGK1|Q6MZH2|Q96CI8 hg19 CCDS8264.1 0.02 17.501249 TGCxTTG COVERED NOVEL RAB30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392141.1 2 11.695742 KEEP 0 2 60 60 1887 AA 1 1 0 - 23 60 841 0 0 56.315893 399 60 14522 526 ENST00000533486.1 0.054502 1 PCF11 51585 __UNKNOWN__ __UNKNOWN__ 11 82868253 82868253 __UNKNOWN__ 5'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:82868253A>G ENST00000298281.4 + 0 224 NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654) cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CTGTGGAGAAAGAAGCTTCTG 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB020631 CCDS44689.1 11q13 2013-07-02 2013-07-02 ENSG00000165494 ENSG00000165494 51585 30097 protein-coding gene gene with protein product 608876 PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae), PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) NA 11060040 Standard NM_015885 NM_015885 NA Approved KIAA0824 uc001ozx.4 O94913 OTTHUMG00000167031 ENST00000298281.4:c.-229A>G chr11.hg19:g.82868253A>G NA A6H8W7|O43671|Q6P0X8 hg19 CCDS44689.1 0.02 11.476858 GAAxGAA COVERED NOVEL PCF11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392548.2 2 75.818409 KEEP 0 0 0 252 7834 AA 1 1 0 + 11 60 421 0 0 27.107269 275 60 10088 644 ENST00000298281.4 0.038462 1 CREBZF 58487 __UNKNOWN__ __UNKNOWN__ 11 85375601 85375601 __UNKNOWN__ Silent SNP G G A rs17810766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:85375601G>A ENST00000527447.1 - 1 545 c.319C>T c.(319-321)Ctg>Ttg p.L107L CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Silent_p.L25L|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 107 NA negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) AGATCCGCCAGTTCCAGCCCA 0.697 NA G||| 270 0.0539137 0.0091 0.036 5008 , , NA 13959 0.0933 NA 0.0567 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NSCLC(172;674 2044 9050 18334 41735) NA 0 G 36,3876 0,36,1920 51 60 57 319 3.8 1 11 dbSNP_123 57 341,7979 10,321,3829 no coding-synonymous CREBZF NM_001039618.2 10,357,5749 AA,AG,GG 4.0986,0.9202,3.0821 107/355 85375601 377,11855 1956 4160 6116 SO:0001819 synonymous_variant AF039942 CCDS41697.1 11q14.1 2013-01-10 ENSG00000137504 ENSG00000137504 58487 basic leucine zipper proteins 24905 protein-coding gene gene with protein product Zhangfei 606444 NA 10871379 Standard NM_001039618 NM_001039618 NA Approved ZF uc001pas.2 Q9NS37 OTTHUMG00000133648 ENST00000527447.1:c.319C>T chr11.hg19:g.85375601G>A NA B2R8Q9|Q0P5U9|Q52LT3 hg19 CCDS41697.1 0.02 18.240263 CCAxTTC COVERED NOVEL CREBZF-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390191.2 2 111.481866 KEEP 0 1 30 381 13708 GG 1 1 0 - 17 60 585 0 0 34.652674 468 60 17672 1116 ENST00000527447.1 0.035052 1 CCDC89 220388 __UNKNOWN__ __UNKNOWN__ 11 85397237 85397237 __UNKNOWN__ 5'UTR SNP A A T rs17810855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:85397237A>T ENST00000316398.3 - 0 83 NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) GTTGCTAGGGACTCTTGGCAC 0.517 NA A||| 358 0.0714856 0.0038 0.0461 5008 , , NA 18522 0.0962 NA 0.0726 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK095478 CCDS8270.1 11q14.1 2006-03-16 ENSG00000179071 ENSG00000179071 220388 26762 protein-coding gene gene with protein product NA 12477932 Standard NM_152723 NM_152723 NA Approved FLJ38159 uc001pau.1 Q8N998 OTTHUMG00000166976 ENST00000316398.3:c.-64T>A chr11.hg19:g.85397237A>T NA hg19 CCDS8270.1 0.02 2.182321 GGGxCTC COVERED NOVEL CCDC89-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392182.1 2 11.131621 KEEP 0 0 0 37 1124 AA 1 0.996232 0 - 4 60 147 0 0 10.003988 64 60 2249 126 ENST00000316398.3 0.058824 0.996233 CCDC83 220047 __UNKNOWN__ __UNKNOWN__ 11 85576127 85576127 __UNKNOWN__ Intron SNP C C T rs36093844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:85576127C>T ENST00000342404.3 + 2 188 CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Intron Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 NA NA breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CGTATGTCTCCTTTCTAAACA 0.378 NA T||| 1040 0.207668 0.2769 0.219 5008 , , NA 20145 0.0933 NA 0.2565 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 T 1115,3291 165,785,1253 89 93 92 3.8 0.2 11 dbSNP_126 92 2049,6549 277,1495,2527 no intron CCDC83 NM_173556.3 442,2280,3780 TT,TC,CC 23.8311,25.3064,24.331 85576127 3164,9840 2203 4299 6502 SO:0001627 intron_variant AK124113 CCDS8271.1, CCDS66196.1 11q14.1-q14.2 2014-01-21 ENSG00000150676 ENSG00000150676 220047 28535 protein-coding gene gene with protein product NA 12477932 Standard NM_173556 XM_005273842 NA Approved MGC34732, FLJ42119, CT148 uc001pbg.1 Q8IWF9 OTTHUMG00000166978 ENST00000342404.3:c.-28-12C>T chr11.hg19:g.85576127C>T NA B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1 hg19 0.02 15.3616 CTCxTTT COVERED NOVEL CCDC83-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000392215.1 1 6.275911 KEEP 0 2 66 44 1579 CC 1 1 0 + 12 60 453 0 0 28.027853 359 60 13115 497 ENST00000342404.3 0.032345 1 CCDC83 220047 __UNKNOWN__ __UNKNOWN__ 11 85609962 85609962 __UNKNOWN__ Intron SNP C C T rs75658818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:85609962C>T ENST00000342404.3 + 7 819 CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Intron|CCDC83_ENST00000529676.2_Intron Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 NA NA breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TGTGGCAACTCTTCCTTAATC 0.358 NA C||| 245 0.0489217 0.0023 0.0677 5008 , , NA 20721 0.0685 NA 0.0527 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 C 46,4360 47.5+/-82.1 0,46,2157 100 92 95 2 0 11 dbSNP_132 95 401,8197 128.0+/-186.3 11,379,3909 no intron CCDC83 NM_173556.3 11,425,6066 TT,TC,CC 4.6639,1.044,3.4374 85609962 447,12557 2203 4299 6502 SO:0001627 intron_variant AK124113 CCDS8271.1, CCDS66196.1 11q14.1-q14.2 2014-01-21 ENSG00000150676 ENSG00000150676 220047 28535 protein-coding gene gene with protein product NA 12477932 Standard NM_173556 XM_005273842 NA Approved MGC34732, FLJ42119, CT148 uc001pbg.1 Q8IWF9 OTTHUMG00000166978 ENST00000342404.3:c.604-28C>T chr11.hg19:g.85609962C>T NA B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1 hg19 0.02 11.496123 ACTxTTC COVERED NOVEL CCDC83-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000392215.1 1 6.755607 KEEP 0 1 27 32 1124 CC 0.999998 0.999998 0 + 12 60 420 0 0 25.102241 334 60 12695 459 ENST00000342404.3 0.034682 1 CCDC83 220047 __UNKNOWN__ __UNKNOWN__ 11 85610109 85610109 __UNKNOWN__ Intron SNP G G C rs725459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:85610109G>C ENST00000342404.3 + 7 888 CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Intron|CCDC83_ENST00000529676.2_Intron Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 NA NA breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ATTTTTTTAAGTGGAAATGAC 0.353 NA C||| 1060 0.211661 0.289 0.2435 5008 , , NA 18898 0.0694 NA 0.2982 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 C 1307,3095 651.7+/-399.3 199,909,1093 33 34 34 1.9 0 11 dbSNP_86 34 2372,6226 685.0+/-404.0 349,1674,2276 no intron CCDC83 NM_173556.3 548,2583,3369 CC,CG,GG 27.5878,29.691,28.3 85610109 3679,9321 2201 4299 6500 SO:0001627 intron_variant AK124113 CCDS8271.1, CCDS66196.1 11q14.1-q14.2 2014-01-21 ENSG00000150676 ENSG00000150676 220047 28535 protein-coding gene gene with protein product NA 12477932 Standard NM_173556 XM_005273842 NA Approved MGC34732, FLJ42119, CT148 uc001pbg.1 Q8IWF9 OTTHUMG00000166978 ENST00000342404.3:c.672+51G>C chr11.hg19:g.85610109G>C NA B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1 hg19 0.02 6.754054 TAAxTGG COVERED NOVEL CCDC83-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000392215.1 3 5.116253 KEEP 0 0 0 17 582 GG 0.999366 0.999366 0 + 8 60 309 0 0 20.668573 164 60 6013 195 ENST00000342404.3 0.046512 1 CCDC83 220047 __UNKNOWN__ __UNKNOWN__ 11 85627039 85627039 __UNKNOWN__ Intron SNP A A G rs3213934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:85627039A>G ENST00000342404.3 + 10 1090 CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Intron Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 NA NA breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2) 29 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TTCAAAATGTATACATAATTA 0.294 NA A||| 556 0.111022 0.1135 0.1383 5008 , , NA 19305 0.0665 NA 0.1302 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 A 479,3925 203.8+/-226.2 26,427,1749 45 47 46 -6.1 0 11 dbSNP_106 46 1161,7433 232.1+/-265.8 85,991,3221 no intron CCDC83 NM_173556.3 111,1418,4970 GG,GA,AA 13.5094,10.8765,12.6173 85627039 1640,11358 2202 4297 6499 SO:0001627 intron_variant AK124113 CCDS8271.1, CCDS66196.1 11q14.1-q14.2 2014-01-21 ENSG00000150676 ENSG00000150676 220047 28535 protein-coding gene gene with protein product NA 12477932 Standard NM_173556 XM_005273842 NA Approved MGC34732, FLJ42119, CT148 uc001pbg.1 Q8IWF9 OTTHUMG00000166978 ENST00000342404.3:c.875-32A>G chr11.hg19:g.85627039A>G NA B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1 hg19 0.02 11.287596 TGTxTAC COVERED NOVEL CCDC83-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000392215.1 2 9.022231 KEEP 0 0 0 30 895 AA 0.999997 0.999997 0 + 10 60 380 0 0 24.235845 258 60 9015 325 ENST00000342404.3 0.037313 1 C11orf73 51501 __UNKNOWN__ __UNKNOWN__ 11 86013361 86013361 __UNKNOWN__ 5'UTR SNP A A G rs291241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:86013361A>G ENST00000278483.3 + 0 97 C11orf73_ENST00000533986.1_5'UTR NM_016401.3 NP_057485.2 Q53FT3 HIKES_HUMAN chromosome 11 open reading frame 73 NA NA cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031) cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634) Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565) kidney(1)|large_intestine(1)|urinary_tract(1) 3 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) TGGCCCAGTCACTATGTAGTG 0.587 NA A||| 847 0.169129 0.0998 0.2349 5008 , , NA 19165 0.2321 NA 0.1233 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC015991 CCDS8275.1 11q14.2 2013-03-12 ENSG00000149196 ENSG00000149196 51501 26938 protein-coding gene gene with protein product 614908 NA 11042152, 22541429 Standard NM_016401 NM_016401 NA Approved HSPC138, HSPC179, Hikeshi, OPI10 uc001pbu.3 Q53FT3 OTTHUMG00000167212 ENST00000278483.3:c.-130A>G chr11.hg19:g.86013361A>G NA Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1 hg19 CCDS8275.1 0.02 8.786637 GTCxCTA COVERED NOVEL C11orf73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393747.1 0 28.583716 KEEP 0 0 0 95 2921 AA 1 1 0 + 7 60 263 1 0 16.132221 216 60 7741 405 ENST00000278483.3 0.03139 1 PRSS23 11098 __UNKNOWN__ __UNKNOWN__ 11 86520632 86520632 __UNKNOWN__ 3'UTR SNP G G A rs2155080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:86520632G>A ENST00000280258.5 + 0 2372 PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 NA NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCACATTTCTGGAACTAGCTA 0.408 NA G||| 1481 0.295727 0.3169 0.2896 5008 , , NA 18384 0.4107 NA 0.1909 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF015287 CCDS8278.1 11q14.2 2010-05-12 ENSG00000150687 ENSG00000150687 11098 Serine peptidases / Serine peptidases 14370 protein-coding gene gene with protein product NA Standard NM_007173 XM_005273727 NA Approved SPUVE, SIG13 uc001pcb.3 O95084 ENST00000280258.5:c.*795G>A chr11.hg19:g.86520632G>A NA B2RDJ1|B4E2J3|Q6IBI0 hg19 CCDS8278.1 0.02 9.67241 TCTxGAA COVERED NOVEL PRSS23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393805.2 1 13.845011 KEEP 0 0 0 46 1614 GG 1 1 0 + 10 60 386 0 0 25.831407 204 60 7662 297 ENST00000280258.5 0.046729 1 PRSS23 11098 __UNKNOWN__ __UNKNOWN__ 11 86520752 86520752 __UNKNOWN__ 3'UTR SNP G G A rs2155081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:86520752G>A ENST00000280258.5 + 0 2492 PRSS23_ENST00000533902.2_Intron NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 NA NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTGGATTATAGCACATCTCAT 0.373 NA G||| 1430 0.285543 0.2799 0.2867 5008 , , NA 19775 0.4107 NA 0.1909 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF015287 CCDS8278.1 11q14.2 2010-05-12 ENSG00000150687 ENSG00000150687 11098 Serine peptidases / Serine peptidases 14370 protein-coding gene gene with protein product NA Standard NM_007173 XM_005273727 NA Approved SPUVE, SIG13 uc001pcb.3 O95084 ENST00000280258.5:c.*915G>A chr11.hg19:g.86520752G>A NA B2RDJ1|B4E2J3|Q6IBI0 hg19 CCDS8278.1 0.02 7.878159 ATAxCAC COVERED NOVEL PRSS23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393805.2 2 17.757646 KEEP 0 0 0 59 2137 GG 1 1 0 + 9 60 321 0 0 19.606545 239 60 8958 362 ENST00000280258.5 0.03629 1 PRSS23 11098 __UNKNOWN__ __UNKNOWN__ 11 86530605 86530605 __UNKNOWN__ Intron SNP G G A rs28517777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:86530605G>A ENST00000533902.2 + 2 131 O95084 PRS23_HUMAN protease, serine, 23 NA NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGCTTCTTAAGAGATAGTGGG 0.403 NA A||| 1104 0.220447 0.2337 0.1744 5008 , , NA 16079 0.4127 NA 0.0775 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015287 CCDS8278.1 11q14.2 2010-05-12 ENSG00000150687 ENSG00000150687 11098 Serine peptidases / Serine peptidases 14370 protein-coding gene gene with protein product NA Standard NM_007173 XM_005273727 NA Approved SPUVE, SIG13 uc001pcb.3 O95084 ENST00000533902.2:c.-11-3814G>A chr11.hg19:g.86530605G>A NA B2RDJ1|B4E2J3|Q6IBI0 hg19 0.02 4.454328 TAAxAGA COVERED NOVEL PRSS23-004 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000393807.2 1 9.932517 KEEP 0 0 0 33 1192 GG 0.999998 0.999982 0 + 8 60 279 0 0 19.440033 97 60 3721 166 ENST00000533902.2 0.07619 0.999984 PRSS23 11098 __UNKNOWN__ __UNKNOWN__ 11 86649986 86649986 __UNKNOWN__ Intron SNP T T C rs77433857 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:86649986T>C ENST00000533902.2 + 3 348 O95084 PRS23_HUMAN protease, serine, 23 NA NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CATTAAAAGATAGCCAAATGG 0.393 NA T||| 212 0.0423323 0.0144 0.0216 5008 , , NA 16123 0.0357 NA 0.0537 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF015287 CCDS8278.1 11q14.2 2010-05-12 ENSG00000150687 ENSG00000150687 11098 Serine peptidases / Serine peptidases 14370 protein-coding gene gene with protein product NA Standard NM_007173 XM_005273727 NA Approved SPUVE, SIG13 uc001pcb.3 O95084 ENST00000533902.2:c.207-12272T>C chr11.hg19:g.86649986T>C NA B2RDJ1|B4E2J3|Q6IBI0 hg19 0.02 2.106645 AGAxAGC COVERED NOVEL PRSS23-004 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000393807.2 1 6.315875 KEEP 0 0 0 21 601 TT 0.999869 0.999673 0 + 7 60 267 0 0 19.394386 82 60 3012 123 ENST00000533902.2 0.078652 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 86735773 86735773 __UNKNOWN__ IGR SNP A A G rs78608826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:86735773A>G NA NA RP11-736K20.6 (23772 upstream) : TMEM135 (13112 downstream) NA NA NA CTCGGTTCATAAGAACTTTGC 0.413 NA A||| 390 0.0778754 0.1225 0.0533 5008 , , NA 21583 0.0764 NA 0.0427 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.86735773A>G NA hg19 0.02 1.989258 CATxAGA COVERED NOVEL 0 2 3.00918 KEEP 0 0 0 10 315 AA 0.992708 0.99259 0 7 60 269 0 0 19.523973 84 60 2972 107 0.076923 0.999881 RAB38 23682 __UNKNOWN__ __UNKNOWN__ 11 87846596 87846596 __UNKNOWN__ 3'UTR SNP A A G rs494680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:87846596A>G ENST00000243662.6 - 0 1278 RP11-164N3.3_ENST00000528458.1_RNA NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family NA NA endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403) large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CATTCAGGCCATGGCAAGTGA 0.458 NA A||| 989 0.197484 0.1513 0.1758 5008 , , NA 16947 0.3919 NA 0.0726 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF235022 CCDS8281.1 11q14 2008-05-14 ENSG00000123892 ENSG00000123892 23682 RAB, member RAS oncogene 9776 protein-coding gene gene with protein product 606281 NA 10910072 Standard NM_022337 NA Approved NY-MEL-1 uc001pcj.2 P57729 OTTHUMG00000167288 ENST00000243662.6:c.*560T>C chr11.hg19:g.87846596A>G NA Q53XK7 hg19 CCDS8281.1 0.02 5.802278 GCCxTGG COVERED NOVEL RAB38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394015.2 1 5.415942 KEEP 0 0 0 18 554 AA 0.999859 0.999859 0 - 7 60 231 0 0 13.836281 160 60 5911 218 ENST00000243662.6 0.041916 1 RAB38 23682 __UNKNOWN__ __UNKNOWN__ 11 87846803 87846803 __UNKNOWN__ 3'UTR SNP G G A rs675578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:87846803G>A ENST00000243662.6 - 0 1071 RP11-164N3.3_ENST00000528458.1_RNA NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family NA NA endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403) large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GCCAGTCCTTGACTTGACAGC 0.433 NA A||| 1524 0.304313 0.441 0.2248 5008 , , NA 17994 0.3958 NA 0.1123 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF235022 CCDS8281.1 11q14 2008-05-14 ENSG00000123892 ENSG00000123892 23682 RAB, member RAS oncogene 9776 protein-coding gene gene with protein product 606281 NA 10910072 Standard NM_022337 NA Approved NY-MEL-1 uc001pcj.2 P57729 OTTHUMG00000167288 ENST00000243662.6:c.*353C>T chr11.hg19:g.87846803G>A NA Q53XK7 hg19 CCDS8281.1 0.02 12.127845 CTTxACT COVERED NOVEL RAB38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394015.2 2 12.62564 KEEP 0 0 0 42 1467 GG 1 1 0 - 14 60 500 0 0 31.977799 293 60 11185 384 ENST00000243662.6 0.045603 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88027209 88027209 __UNKNOWN__ Missense_Mutation SNP T T C rs3888798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88027209T>C ENST00000227266.5 - 7 1471 c.1357A>G c.(1357-1359)Ata>Gta p.I453V NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C 453 NA I -> V (rare polymorphism; dbSNP:rs3888798). {ECO:0000269|PubMed:11180012}. aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCCACTGCTATGCTCTCAATT 0.463 NA T||| 420 0.0838658 0.0802 0.1023 5008 , , NA 16827 0.1151 NA 0.0517 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 GRCh37 CM086741 CTSC M rs3888798 T VAL/ILE 302,4100 163.6+/-195.4 11,280,1910 87 82 84 1357 6 1 11 dbSNP_108 84 332,8266 115.7+/-175.5 6,320,3973 yes missense CTSC NM_001814.4 29 17,600,5883 CC,CT,TT 3.8614,6.8605,4.8769 possibly-damaging 453/464 88027209 634,12366 2201 4299 6500 SO:0001583 missense AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.1357A>G chr11.hg19:g.88027209T>C ENSP00000227266:p.Ile453Val NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 26.563008 CTAxGCT COVERED 186 0.08516483516483517 35 0.07113821138211382 27 0.07458563535911603 75 0.13111888111888112 49 0.06464379947229551 T 24.7 4.556481 0.86231 0.068605 0.038614 ENSG00000109861 ENST00000393302;ENST00000227266 D 0.86627 -2.15 5.97 5.97 0.96955 Peptidase C1A, papain C-terminal (2); 0.000000 0.85682 D 0.000000 T 0.06280 0.0162 N 0.20574 0.59 0.80722 D 1 P;B 0.39759 0.687;0.444 P;B 0.52909 0.713;0.307 T 0.53585 -0.8418 9 . . . . 16.4504 0.83984 0.0:0.0:0.0:1.0 rs3888798;rs4581448;rs56447948;rs3888798 436;453 B4DJQ8;P53634 .;CATC_HUMAN V 436;453 ENSP00000227266:I453V . I - 1 0 CTSC 87666857 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 6.156000 0.71840 2.288000 0.76882 0.533000 0.62120 ATA NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 1 32.15801 KEEP 0 0 0 107 3314 TT 1 1 0 - 21 60 692 0 0 39.134459 672 60 24576 1001 ENST00000227266.5 0.030303 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88027393 88027393 __UNKNOWN__ Silent SNP A A C rs17594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88027393A>C ENST00000227266.5 - 7 1287 c.1173T>G c.(1171-1173)acT>acG p.T391T NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C 391 NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTCTTAGACCAGTGTGGTGGT 0.488 NA A||| 429 0.0856629 0.0802 0.1023 5008 , , NA 19653 0.1151 NA 0.0507 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 A 302,4100 163.6+/-195.4 11,280,1910 140 113 122 1173 -5.8 1 11 dbSNP_63 122 326,8272 114.6+/-174.5 5,316,3978 no coding-synonymous CTSC NM_001814.4 16,596,5888 CC,CA,AA 3.7916,6.8605,4.8308 391/464 88027393 628,12372 2201 4299 6500 SO:0001819 synonymous_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.1173T>G chr11.hg19:g.88027393A>C NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 9.506335 ACCxGTG COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 2 11.133218 KEEP 0 0 0 37 1162 AA 1 1 0 - 10 60 338 0 0 19.886714 268 60 9867 369 ENST00000227266.5 0.035971 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88045583 88045583 __UNKNOWN__ Missense_Mutation SNP A A G rs217086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88045583A>G ENST00000227266.5 - 3 572 c.458T>C c.(457-459)aTa>aCa p.I153T NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C 153 NA I -> T (in dbSNP:rs217086). {ECO:0000269|PubMed:11106356, ECO:0000269|PubMed:11180601, ECO:0000269|PubMed:11886537, ECO:0000269|PubMed:12112662, ECO:0000269|PubMed:12809647, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:14974080, ECO:0000269|PubMed:1586157, ECO:0000269|PubMed:7649281, ECO:0000269|PubMed:9092576, ECO:0000269|Ref.6, ECO:0000269|Ref.9}. aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAGGTGTGCTATGTTGACATA 0.413 NA G||| 4662 0.930911 0.9251 0.9251 5008 , , NA 18690 0.999 NA 0.8479 False NA ,,, NA NA NA 2504 0.9581 NA NA NA NA 0 GRCh37 CM002936 CTSC M rs217086 G THR/ILE 4012,390 194.0+/-219.0 1822,368,11 162 157 159 458 -9.5 0 11 dbSNP_79 159 7221,1377 267.1+/-287.1 3029,1163,107 yes missense CTSC NM_001814.4 89 4851,1531,118 GG,GA,AA 16.0154,8.8596,13.5923 benign 153/464 88045583 11233,1767 2201 4299 6500 SO:0001583 missense AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.458T>C chr11.hg19:g.88045583A>G ENSP00000227266:p.Ile153Thr NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 8.854075 GCTxTGT COVERED 1992|1992 0.9120879120879121|0.9120879120879121 449|449 0.9126016260162602|0.9126016260162602 330|330 0.9116022099447514|0.9116022099447514 571|571 0.9982517482517482|0.9982517482517482 642|642 0.8469656992084432|0.8469656992084432 G|G 5.750|5.750 0.322871|0.322871 0.10900|0.10900 0.911404|0.911404 0.839846|0.839846 ENSG00000109861|ENSG00000109861 ENST00000393302;ENST00000227266|ENST00000527018 T|. 0.69685|. -0.42|. 5.97|5.97 -9.46|-9.46 0.00597|0.00597 .|. 2.132100|. 0.01547|. N|. 0.019517|. T|. 0.00012|. 0.0000|. N|N 0.00197|0.00197 -1.87|-1.87 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|. 0.43212|. -0.9405|. 8|. .|. .|. .|. .|. 12.5115|12.5115 0.56007|0.56007 0.7187:0.0:0.1682:0.1132|0.7187:0.0:0.1682:0.1132 rs217086;rs574451;rs52827102;rs57837286;rs217086|rs217086;rs574451;rs52827102;rs57837286;rs217086 153|. P53634|. CATC_HUMAN|. T|Q 136;153|110 ENSP00000227266:I153T|. .|. I|X -|- 2|1 0|0 CTSC|CTSC 87685231|87685231 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 -0.617000|-0.617000 0.05584|0.05584 -2.143000|-2.143000 0.00803|0.00803 -0.726000|-0.726000 0.03593|0.03593 ATA|TAG NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 1 12.337557 KEEP 0 0 0 41 1302 AA 1 1 0 - 9 60 347 0 0 22.347208 230 60 8410 337 ENST00000227266.5 0.037657 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88054346 88054346 __UNKNOWN__ Intron SNP G G C rs217054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88054346G>C ENST00000227266.5 - 3 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) tacatgtgtaggatgtgcagg 0.313 NA C||| 4265 0.851637 0.7413 0.8473 5008 , , NA 13357 0.999 NA 0.7664 False NA ,,, NA NA NA 2504 0.9397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.319-8624C>G chr11.hg19:g.88054346G>C NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 -0.280747 GTAxGAT COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 2 2.708331 KEEP 0 0 0 9 303 GG 0.99254 0.734154 0 - 3 60 113 0 0 8.408053 29 60 1095 46 ENST00000227266.5 0.09375 0.739671 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88055089 88055089 __UNKNOWN__ Intron SNP C C T rs217055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88055089C>T ENST00000227266.5 - 3 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) acctcactagcatgttgtttg 0.383 NA T||| 4663 0.93111 0.9251 0.9251 5008 , , NA 21055 0.999 NA 0.8489 False NA ,,, NA NA NA 2504 0.9581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.319-9367G>A chr11.hg19:g.88055089C>T NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 8.545466 TAGxATG COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 4 7.794373 KEEP 0 2 57 46 1676 CC 1 1 0 - 12 60 428 0 0 28.68582 193 60 7337 304 ENST00000227266.5 0.058537 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88055789 88055789 __UNKNOWN__ Intron SNP A A T rs452648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88055789A>T ENST00000227266.5 - 3 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) caaacaaccaacagcaaatac 0.348 NA T||| 4332 0.865016 0.7905 0.853 5008 , , NA 18926 0.999 NA 0.7664 False NA ,,, NA NA NA 2504 0.9376 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.319-10067T>A chr11.hg19:g.88055789A>T NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 14.513611 CCAxCAG COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 21 29.158245 KEEP 0 2 63 119 3819 AA 1 1 0 - 15 60 512 0 0 31.245971 373 60 13366 632 ENST00000227266.5 0.03866 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88055794 88055794 __UNKNOWN__ Intron SNP A A G rs442528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88055794A>G ENST00000227266.5 - 3 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) aaccaacagcaaatactacaa 0.353 NA G||| 4332 0.865016 0.7905 0.853 5008 , , NA 18822 0.999 NA 0.7664 False NA ,,, NA NA NA 2504 0.9376 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.319-10072T>C chr11.hg19:g.88055794A>G NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 14.838236 AGCxAAT COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 21 27.250712 KEEP 0 2 73 116 3616 AA 1 1 0 - 17 60 590 0 0 36.891875 368 60 13280 617 ENST00000227266.5 0.044156 1 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88056130 88056130 __UNKNOWN__ Intron SNP A A G rs217056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88056130A>G ENST00000227266.5 - 3 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) cagagatacgacaacaaaaag 0.398 NA A||| 3956 0.789936 0.7352 0.7579 5008 , , NA 19496 0.8849 NA 0.7147 False NA ,,, NA NA NA 2504 0.8661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.319-10408T>C chr11.hg19:g.88056130A>G NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 5.001631 ACGxCAA COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 3 16.283499 KEEP 0 1 34 66 2108 AA 1 0.999994 0 - 6 60 227 0 0 15.430654 105 60 3780 243 ENST00000227266.5 0.054054 0.999994 CTSC 1075 __UNKNOWN__ __UNKNOWN__ 11 88058214 88058214 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:88058214T>A ENST00000227266.5 - 2 433 CTSC_ENST00000524463.1_3'UTR NM_001814.4 NP_001805 P53634 CATC_HUMAN cathepsin C NA NA aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913) endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020) chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252) large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCAGACAATATGAATTAAACA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK223038 CCDS8282.1, CCDS31654.1, CCDS44693.1 11q14.2 2014-09-17 ENSG00000109861 ENSG00000109861 1075 3.4.14.1 Cathepsins 2528 protein-coding gene gene with protein product dipeptidyl peptidase 1 602365 PLS, PALS NA 7649281, 9092576 Standard NM_001814 NM_148170 NA Approved DPP1 uc001pck.4 P53634 OTTHUMG00000167290 ENST00000227266.5:c.318+9890A>T chr11.hg19:g.88058214T>A NA A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8 hg19 CCDS8282.1 0.02 4.303225 ATAxGAA COVERED NOVEL CTSC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394019.2 2 4.813979 KEEP 0 0 0 16 493 TT 0.997832 0.997832 0 - 5 60 191 0 0 12.043193 140 60 5183 185 ENST00000227266.5 0.034483 1 NOX4 50507 __UNKNOWN__ __UNKNOWN__ 11 89060002 89060002 __UNKNOWN__ Silent SNP G G A rs28517716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:89060002G>A ENST00000263317.4 - 18 1897 c.1659C>T c.(1657-1659)tcC>tcT p.S553S NOX4_ENST00000375979.3_Silent_p.S246S|NOX4_ENST00000532825.1_Silent_p.S489S|NOX4_ENST00000542487.1_Silent_p.S529S|NOX4_ENST00000531342.1_Silent_p.S206S|NOX4_ENST00000535633.1_Silent_p.S529S|NOX4_ENST00000527626.1_Silent_p.S366S|NOX4_ENST00000424319.1_Silent_p.S529S|NOX4_ENST00000525196.1_Silent_p.S317S|NOX4_ENST00000528341.1_Silent_p.S528S|NOX4_ENST00000527956.1_Silent_p.S529S|NOX4_ENST00000413594.2_Silent_p.S574S|NOX4_ENST00000343727.5_Silent_p.S529S|NOX4_ENST00000534731.1_Silent_p.S513S Q9NPH5 NOX4_HUMAN NADPH oxidase 4 553 Mediates interaction with TLR4. NA bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554) apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GAAGAGTCTTGGATAGTGAAT 0.368 NA G||| 660 0.131789 0.2405 0.0418 5008 , , NA 16825 0.1429 NA 0.0507 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 G ,, 791,3611 299.6+/-285.9 68,655,1478 89 89 89 1539,1587,1659 2.4 1 11 dbSNP_125 89 347,8251 115.5+/-175.4 5,337,3957 no coding-synonymous,coding-synonymous,coding-synonymous NOX4 NM_001143836.1,NM_001143837.1,NM_016931.3 ,, 73,992,5435 AA,AG,GG 4.0358,17.9691,8.7538 ,, 513/539,529/555,553/579 89060002 1138,11862 2201 4299 6500 SO:0001819 synonymous_variant AF254621 CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1 11q14.2-q21 2008-02-05 ENSG00000086991 ENSG00000086991 50507 7891 protein-coding gene gene with protein product 605261 NA Standard NM_016931 NM_001143837 NA Approved KOX-1, KOX uc001pct.3 Q9NPH5 OTTHUMG00000167298 ENST00000263317.4:c.1659C>T chr11.hg19:g.89060002G>A NA A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92 hg19 CCDS8285.1 0.02 18.99596 CTTxGAT COVERED NOVEL NOX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394054.1 6 16.553599 KEEP 0 0 0 55 1924 GG 1 1 0 - 27 60 1011 1 0 70.737622 384 60 14134 560 ENST00000263317.4 0.065693 1 CHORDC1 26973 __UNKNOWN__ __UNKNOWN__ 11 89943676 89943676 __UNKNOWN__ Intron SNP A A T rs12786959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:89943676A>T ENST00000320585.6 - 6 902 CHORDC1_ENST00000457199.2_Intron|CHORDC1_ENST00000529987.1_Intron NM_012124.2 NP_036256.2 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain (CHORD) containing 1 NA NA chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950) Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|liver(1)|lung(6) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) TTTACTTCATAACACATCACA 0.323 NA A||| 539 0.107628 0.0091 0.111 5008 , , NA 18661 0.1042 NA 0.2107 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 A , 179,4221 110.8+/-149.0 4,171,2025 58 54 55 , 1.9 0 11 dbSNP_121 55 1672,6914 296.1+/-302.7 157,1358,2778 no intron,intron CHORDC1 NM_001144073.1,NM_012124.2 , 161,1529,4803 TT,TA,AA 19.4736,4.0682,14.2538 , , 89943676 1851,11135 2200 4293 6493 SO:0001627 intron_variant AF192466 CCDS8289.1, CCDS44705.1 11q14.3 2011-01-25 2011-01-25 ENSG00000110172 ENSG00000110172 26973 14525 protein-coding gene gene with protein product 604353 cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1, cysteine and histidine-rich domain (CHORD)-containing 1 NA 10571178 Standard NM_012124 NM_012124 NA Approved CHP1 uc001pdg.2 Q9UHD1 OTTHUMG00000167305 ENST00000320585.6:c.492+27T>A chr11.hg19:g.89943676A>T NA B2R6P8|Q6IN49|Q8WVL9|Q9H3D6 hg19 CCDS8289.1 0.02 1.847811 CATxACA COVERED NOVEL CHORDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394111.1 0 3.911285 KEEP 0 0 0 13 398 AA 0.994391 0.9923 0 - 4 60 144 0 0 9.57702 69 60 2508 99 ENST00000320585.6 0.054795 0.997898 CHORDC1 26973 __UNKNOWN__ __UNKNOWN__ 11 89943681 89943681 __UNKNOWN__ Intron SNP A A G rs12787117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:89943681A>G ENST00000320585.6 - 6 902 CHORDC1_ENST00000457199.2_Intron|CHORDC1_ENST00000529987.1_Intron NM_012124.2 NP_036256.2 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain (CHORD) containing 1 NA NA chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950) Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|liver(1)|lung(6) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) TTCATAACACATCACAAATCT 0.313 NA A||| 539 0.107628 0.0091 0.111 5008 , , NA 18592 0.1042 NA 0.2107 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 A , 179,4221 112.1+/-150.2 4,171,2025 60 56 57 , 0.6 0 11 dbSNP_121 57 1673,6915 300.1+/-304.8 157,1359,2778 no intron,intron CHORDC1 NM_001144073.1,NM_012124.2 , 161,1530,4803 GG,GA,AA 19.4807,4.0682,14.2593 , , 89943681 1852,11136 2200 4294 6494 SO:0001627 intron_variant AF192466 CCDS8289.1, CCDS44705.1 11q14.3 2011-01-25 2011-01-25 ENSG00000110172 ENSG00000110172 26973 14525 protein-coding gene gene with protein product 604353 cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1, cysteine and histidine-rich domain (CHORD)-containing 1 NA 10571178 Standard NM_012124 NM_012124 NA Approved CHP1 uc001pdg.2 Q9UHD1 OTTHUMG00000167305 ENST00000320585.6:c.492+22T>C chr11.hg19:g.89943681A>G NA B2R6P8|Q6IN49|Q8WVL9|Q9H3D6 hg19 CCDS8289.1 0.02 1.86538 CACxTCA COVERED NOVEL CHORDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394111.1 0 3.910613 KEEP 0 0 0 13 393 AA 0.994391 0.99157 0 - 4 60 147 0 0 9.926303 67 60 2457 94 ENST00000320585.6 0.056338 0.997163 FAT3 120114 __UNKNOWN__ __UNKNOWN__ 11 92087959 92087959 __UNKNOWN__ Missense_Mutation SNP G G A rs80293525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:92087959G>A ENST00000525166.1 + 1 2253 c.2231G>A c.(2230-2232)cGg>cAg p.R744Q FAT3_ENST00000409404.2_Missense_Mutation_p.R894Q|FAT3_ENST00000541502.1_Missense_Mutation_p.R894Q|FAT3_ENST00000298047.6_Missense_Mutation_p.R894Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 894 Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAGTTGGACCGGGAATCCAAA 0.423 NA TCGA Ovarian(4;0.039) G||| 53 0.0105831 0.0 0.0072 5008 , , NA 19877 0.0308 NA 0.003 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 G GLN/ARG 10,3774 1,8,1883 100 97 98 2681 5.4 1 11 dbSNP_131 98 39,8215 0,39,4088 yes missense FAT3 NM_001008781.2 43 1,47,5971 AA,AG,GG 0.4725,0.2643,0.407 probably-damaging 894/4558 92087959 49,11989 1892 4127 6019 SO:0001583 missense AB076400 11q14.3 2013-05-31 2013-05-31 ENSG00000165323 ENSG00000165323 120114 Cadherins / Cadherin-related 23112 protein-coding gene gene with protein product cadherin-related family member 10 612483 FAT tumor suppressor homolog 3 (Drosophila) NA 11811999 Standard NM_001008781 NM_001008781 NA Approved KIAA1989, CDHF15, CDHR10 uc001pdj.4 Q8TDW7 OTTHUMG00000154468 ENST00000525166.1:c.2231G>A chr11.hg19:g.92087959G>A ENSP00000432586:p.Arg744Gln NA B5MDB0|Q96AU6 hg19 0.02 19.912735 ACCxGGA COVERED 21 0.009615384615384616 0 0.0 3 0.008287292817679558 15 0.026223776223776224 3 0.00395778364116095 G 21.0 4.089570 0.76756 0.002643 0.004725 ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166 T;T;T;T 0.59364 4.67;4.67;0.27;4.67 5.37 5.37 0.77165 . . . . . T 0.70254 0.3203 H 0.97783 4.075 0.51767 D 0.999932 D 0.89917 1.0 D 0.87578 0.998 D 0.85662 0.1289 9 0.54805 T 0.06 . 18.103 0.89512 0.0:0.0:1.0:0.0 . 894 Q8TDW7-3 . Q 894;894;894;744 ENSP00000298047:R894Q;ENSP00000387040:R894Q;ENSP00000443786:R894Q;ENSP00000432586:R744Q ENSP00000298047:R894Q R + 2 0 FAT3 91727607 1.000000 0.71417 0.998000 0.56505 0.854000 0.48673 9.787000 0.99055 2.526000 0.85167 0.467000 0.42956 CGG NOVEL FAT3-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000335363.3 5 16.853482 KEEP 0 0 0 56 1919 GG 1 1 0 + 12 60 452 0 0 26.737129 453 60 15847 609 ENST00000525166.1 0.025806 1 FAT3 120114 __UNKNOWN__ __UNKNOWN__ 11 92577031 92577031 __UNKNOWN__ Intron SNP C C T rs4753068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:92577031C>T ENST00000525166.1 + 18 10138 FAT3_ENST00000409404.2_Intron|FAT3_ENST00000298047.6_Intron Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 NA NA homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTCTATCTGCGGGTTTTTAA 0.398 NA TCGA Ovarian(4;0.039) C||| 1933 0.385982 0.298 0.4164 5008 , , NA 21118 0.4464 NA 0.4105 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB076400 11q14.3 2013-05-31 2013-05-31 ENSG00000165323 ENSG00000165323 120114 Cadherins / Cadherin-related 23112 protein-coding gene gene with protein product cadherin-related family member 10 612483 FAT tumor suppressor homolog 3 (Drosophila) NA 11811999 Standard NM_001008781 NM_001008781 NA Approved KIAA1989, CDHF15, CDHR10 uc001pdj.4 Q8TDW7 OTTHUMG00000154468 ENST00000525166.1:c.10117-69C>T chr11.hg19:g.92577031C>T NA B5MDB0|Q96AU6 hg19 0.02 4.288218 CTGxGGG COVERED NOVEL FAT3-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000335363.3 1 3.310378 KEEP 0 0 0 11 371 CC 0.993072 0.993072 0 + 10 60 344 0 0 24.082472 114 60 4160 145 ENST00000525166.1 0.080645 0.999999 FAT3 120114 __UNKNOWN__ __UNKNOWN__ 11 92577070 92577070 __UNKNOWN__ Intron SNP T T C rs4753419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:92577070T>C ENST00000525166.1 + 18 10138 FAT3_ENST00000409404.2_Intron|FAT3_ENST00000298047.6_Intron Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 NA NA homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTCTTCCTTTGTTGCCTTTT 0.423 NA TCGA Ovarian(4;0.039) T||| 1934 0.386182 0.298 0.4164 5008 , , NA 21166 0.4474 NA 0.4105 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 T 1161,2569 176,809,880 98 95 96 1 0 11 dbSNP_111 96 3261,4937 652,1957,1490 no intron FAT3 NM_001008781.2 828,2766,2370 CC,CT,TT 39.778,31.126,37.0724 92577070 4422,7506 1865 4099 5964 SO:0001627 intron_variant AB076400 11q14.3 2013-05-31 2013-05-31 ENSG00000165323 ENSG00000165323 120114 Cadherins / Cadherin-related 23112 protein-coding gene gene with protein product cadherin-related family member 10 612483 FAT tumor suppressor homolog 3 (Drosophila) NA 11811999 Standard NM_001008781 NM_001008781 NA Approved KIAA1989, CDHF15, CDHR10 uc001pdj.4 Q8TDW7 OTTHUMG00000154468 ENST00000525166.1:c.10117-30T>C chr11.hg19:g.92577070T>C NA B5MDB0|Q96AU6 hg19 0.02 8.798294 CTTxGTT COVERED NOVEL FAT3-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000335363.3 1 9.02491 KEEP 0 0 0 30 889 TT 0.999997 0.999997 0 + 15 60 557 0 0 38.666259 219 60 7939 309 ENST00000525166.1 0.064103 1 FAT3 120114 __UNKNOWN__ __UNKNOWN__ 11 92590406 92590406 __UNKNOWN__ Missense_Mutation SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:92590406C>A ENST00000525166.1 + 19 10964 c.10942C>A c.(10942-10944)Cct>Act p.P3648T FAT3_ENST00000409404.2_Missense_Mutation_p.P3798T|FAT3_ENST00000533797.1_Missense_Mutation_p.P133T|FAT3_ENST00000298047.6_Missense_Mutation_p.P3798T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3798 Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTCCAACGATCCTTGTGTGGA 0.542 NA TCGA Ovarian(4;0.039) NA NA NA NA NA NA NA NA NA NA 0 108 113 112 NA NA 11 NA 92590406 2016 4177 6193 SO:0001583 missense AB076400 11q14.3 2013-05-31 2013-05-31 ENSG00000165323 ENSG00000165323 120114 Cadherins / Cadherin-related 23112 protein-coding gene gene with protein product cadherin-related family member 10 612483 FAT tumor suppressor homolog 3 (Drosophila) NA 11811999 Standard NM_001008781 NM_001008781 NA Approved KIAA1989, CDHF15, CDHR10 uc001pdj.4 Q8TDW7 OTTHUMG00000154468 ENST00000525166.1:c.10942C>A chr11.hg19:g.92590406C>A ENSP00000432586:p.Pro3648Thr NA B5MDB0|Q96AU6 hg19 0.02 4.053117 GATxCTT COVERED . . . . . . . . . . C 11.28 1.592353 0.28357 . . ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797 T;T;T;T 0.30448 1.53;1.53;1.53;1.53 5.95 5.95 0.96441 Epidermal growth factor-like, type 3 (1); . . . . T 0.31040 0.0784 L 0.40543 1.245 0.80722 D 1 P;B 0.39696 0.683;0.008 B;B 0.39465 0.3;0.008 T 0.01397 -1.1365 9 0.23302 T 0.38 . 20.3932 0.98965 0.0:1.0:0.0:0.0 . 3798;3798 Q8TDW7-3;Q8TDW7 .;FAT3_HUMAN T 3798;3798;3648;133 ENSP00000298047:P3798T;ENSP00000387040:P3798T;ENSP00000432586:P3648T;ENSP00000436399:P133T ENSP00000298047:P3798T P + 1 0 FAT3 92230054 1.000000 0.71417 1.000000 0.80357 0.955000 0.61496 4.042000 0.57347 2.824000 0.97209 0.655000 0.94253 CCT NOVEL FAT3-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000335363.3 0 8.427513 KEEP 0 0 0 28 996 CC 0.999997 0.999997 0 + 6 60 201 0 0 12.494995 122 60 4566 188 ENST00000525166.1 0.046875 1 FAT3 120114 __UNKNOWN__ __UNKNOWN__ 11 92622244 92622244 __UNKNOWN__ Intron SNP G G T rs73560556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:92622244G>T ENST00000525166.1 + 25 12623 FAT3_ENST00000409404.2_Intron|FAT3_ENST00000489716.1_Intron|FAT3_ENST00000533797.1_Intron|FAT3_ENST00000298047.6_Intron Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 NA NA homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTGCATGCCGCACCTTCAtt 0.433 NA TCGA Ovarian(4;0.039) G||| 896 0.178914 0.1657 0.1282 5008 , , NA 18788 0.2411 NA 0.165 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB076400 11q14.3 2013-05-31 2013-05-31 ENSG00000165323 ENSG00000165323 120114 Cadherins / Cadherin-related 23112 protein-coding gene gene with protein product cadherin-related family member 10 612483 FAT tumor suppressor homolog 3 (Drosophila) NA 11811999 Standard NM_001008781 NM_001008781 NA Approved KIAA1989, CDHF15, CDHR10 uc001pdj.4 Q8TDW7 OTTHUMG00000154468 ENST00000525166.1:c.12602-111G>T chr11.hg19:g.92622244G>T NA B5MDB0|Q96AU6 hg19 0.02 11.652688 GCCxCAC COVERED NOVEL FAT3-001 NOVEL not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000335363.3 0 6.320122 KEEP 0 0 0 21 722 GG 0.999869 0.999869 0 + 18 60 684 0 0 47.56914 277 60 9225 355 ENST00000525166.1 0.061017 1 SLC36A4 120103 __UNKNOWN__ __UNKNOWN__ 11 92881044 92881044 __UNKNOWN__ 3'UTR SNP T T G rs1062050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:92881044T>G ENST00000326402.4 - 0 2304 NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 NA NA L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827) integral component of membrane (GO:0016021) symporter activity (GO:0015293) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) aaagtcccttTTCAAATTTCA 0.378 NA T||| 986 0.196885 0.0545 0.2219 5008 , , NA 16454 0.3165 NA 0.3131 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY162216 CCDS8291.1, CCDS66202.1 11q21 2013-05-22 ENSG00000180773 ENSG00000180773 120103 Solute carriers 19660 protein-coding gene gene with protein product 613760 NA Standard XM_005273758 NA Approved PAT4, FLJ38932 uc001pdn.3 Q6YBV0 OTTHUMG00000167368 ENST00000326402.4:c.*659A>C chr11.hg19:g.92881044T>G NA Q86X30|Q8IVM5|Q8N8S6 hg19 CCDS8291.1 0.02 7.493604 CTTxTCA COVERED NOVEL SLC36A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394329.2 0 4.246935 KEEP 0 1 34 26 814 TT 0.999988 0.999988 0 - 12 60 467 0 0 34.055357 144 60 5175 222 ENST00000326402.4 0.076923 1 HEPHL1 341208 __UNKNOWN__ __UNKNOWN__ 11 93836266 93836266 __UNKNOWN__ Intron SNP G G C rs61905098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:93836266G>C ENST00000315765.9 + 15 2690 NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 NA NA copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATTTGGGTTGGTATATGTGAA 0.378 NA G||| 624 0.124601 0.0953 0.0634 5008 , , NA 14583 0.2381 NA 0.0656 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX641008 CCDS44710.1 11q21 2008-02-05 ENSG00000181333 ENSG00000181333 341208 30477 protein-coding gene gene with protein product NA Standard XM_291947 NM_001098672 NA Approved DKFZp686F22190 uc001pep.2 Q6MZM0 OTTHUMG00000167751 ENST00000315765.9:c.2682+80G>C chr11.hg19:g.93836266G>C NA Q3C1W7 hg19 CCDS44710.1 0.02 4.652052 TTGxTAT COVERED NOVEL HEPHL1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396103.2 0 5.116607 KEEP 0 0 0 17 595 GG 0.999366 0.999366 0 + 7 60 274 0 0 18.951812 121 60 4462 156 ENST00000315765.9 0.054687 1 HEPHL1 341208 __UNKNOWN__ __UNKNOWN__ 11 93844989 93844989 __UNKNOWN__ Missense_Mutation SNP C C T rs117805838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:93844989C>T ENST00000315765.9 + 20 3417 c.3409C>T c.(3409-3411)Ctc>Ttc p.L1137F NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 1137 NA copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021) copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTCCCTCAGACTCTGCTCTGC 0.527 NA C||| 81 0.0161741 0.0 0.0014 5008 , , NA 19718 0.0734 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 C PHE/LEU 5,3959 0,5,1977 160 157 158 3409 3.6 0 11 dbSNP_132 158 0,8340 0,0,4170 yes missense HEPHL1 NM_001098672.1 22 0,5,6147 TT,TC,CC 0.0,0.1261,0.0406 benign 1137/1160 93844989 5,12299 1982 4170 6152 SO:0001583 missense BX641008 CCDS44710.1 11q21 2008-02-05 ENSG00000181333 ENSG00000181333 341208 30477 protein-coding gene gene with protein product NA Standard XM_291947 NM_001098672 NA Approved DKFZp686F22190 uc001pep.2 Q6MZM0 OTTHUMG00000167751 ENST00000315765.9:c.3409C>T chr11.hg19:g.93844989C>T ENSP00000313699:p.Leu1137Phe NA Q3C1W7 hg19 CCDS44710.1 0.02 16.45529 AGAxTCT COVERED 47 0.02152014652014652 0 0.0 0 0.0 47 0.08216783216783216 0 0.0 C 5.918 0.353472 0.11182 0.001261 0.0 ENSG00000181333 ENST00000315765 D 0.99399 -5.83 5.45 3.59 0.41128 . . . . . D 0.87237 0.6127 L 0.29908 0.895 0.09310 N 1 D 0.71674 0.998 D 0.78314 0.991 D 0.83620 0.0139 9 0.40728 T 0.16 -13.1436 10.3719 0.44060 0.0:0.8395:0.0:0.1605 . 1137 Q6MZM0 HPHL1_HUMAN F 1137 ENSP00000313699:L1137F ENSP00000313699:L1137F L + 1 0 HEPHL1 93484637 0.022000 0.18835 0.007000 0.13788 0.113000 0.19764 0.695000 0.25527 0.691000 0.31592 -0.224000 0.12420 CTC NOVEL HEPHL1-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396103.2 1 21.906501 KEEP 0 1 32 84 3015 CC 1 1 0 + 12 60 421 0 0 23.986698 427 60 16097 636 ENST00000315765.9 0.027335 1 MRE11A 4361 __UNKNOWN__ __UNKNOWN__ 11 94225920 94225920 __UNKNOWN__ Intron SNP C C T rs497763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94225920C>T ENST00000323929.3 - 2 243 MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000536144.1_Intron|MRE11A_ENST00000407439.3_5'UTR|MRE11A_ENST00000540013.1_Intron|MRE11A_ENST00000393241.4_Intron NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) NA NA base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004) chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861) 3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014) breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CCCCAAATAACAAGGGATTCC 0.398 NA Homologous recombination Ataxia-Telangiectasia-Like Disorder C||| 2290 0.457268 0.3396 0.4798 5008 , , NA 16376 0.5 NA 0.4483 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 C , 1643,2759 501.3+/-365.0 318,1007,876 105 97 100 , 1.8 0 11 dbSNP_83 100 3688,4908 527.0+/-381.1 802,2084,1412 no intron,intron MRE11A NM_005590.3,NM_005591.3 , 1120,3091,2288 TT,TC,CC 42.9037,37.3239,41.014 , , 94225920 5331,7667 2201 4298 6499 SO:0001627 intron_variant Familial Cancer Database ATLD BC063458 CCDS8298.1, CCDS8299.1 11q21 2014-09-17 2001-11-28 ENSG00000020922 ENSG00000020922 4361 7230 protein-coding gene gene with protein product AT-like disease 600814 meiotic recombination (S. cerevisiae) 11 homolog A MRE11 NA 8530104 Standard NM_005591 XM_005274007 NA Approved ATLD uc001peu.2 P49959 OTTHUMG00000167780 ENST00000323929.3:c.20+27G>A chr11.hg19:g.94225920C>T NA O43475 hg19 CCDS8299.1 0.02 13.553956 TAAxAAG COVERED NOVEL MRE11A-001 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396237.3 1 20.407602 KEEP 0 4 129 113 4088 CC 1 1 0 - 24 60 889 0 0 63.474443 292 60 11196 563 ENST00000323929.3 0.075949 1 RP11-867G2.8 0 __UNKNOWN__ __UNKNOWN__ 11 94462311 94462311 __UNKNOWN__ RNA SNP C C T rs6483359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94462311C>T ENST00000536540.1 - 0 52 RP11-867G2.8_ENST00000537874.1_RNA NA NA NA TACGTGCCCACGCTGTTTGTC 0.473 NA C||| 1581 0.315695 0.5711 0.1326 5008 , , NA 21966 0.4038 NA 0.0746 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000536540.1: chr11.hg19:g.94462311C>T NA hg19 0.02 8.689778 CCAxGCT COVERED NOVEL RP11-867G2.8-001 KNOWN basic antisense NA antisense OTTHUMT00000396436.1 1 3.911409 KEEP 0 0 0 13 436 CC 0.994391 0.994391 0 - 7 60 266 0 0 16.269459 228 60 7568 273 ENST00000536540.1 0.029787 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 94491458 94491458 __UNKNOWN__ IGR SNP T T A rs60239055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94491458T>A NA NA RP11-867G2.8 (17937 upstream) : AMOTL1 (10049 downstream) NA NA NA TACTAACAGATCAAAGTGGTG 0.378 NA A||| 838 0.167332 0.2579 0.1671 5008 , , NA 19431 0.2748 NA 0.0169 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.94491458T>A NA hg19 0.02 12.20362 AGAxCAA COVERED NOVEL 0 1 21.666823 KEEP 0 0 0 72 2319 TT 1 1 0 12 60 425 1 0 26.186954 298 60 10908 490 0.03871 1 AMOTL1 154810 __UNKNOWN__ __UNKNOWN__ 11 94533373 94533373 __UNKNOWN__ Silent SNP C C T rs2303960 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94533373C>T ENST00000433060.2 + 3 1158 c.1017C>T c.(1015-1017)ccC>ccT p.P339P AMOTL1_ENST00000317837.9_Silent_p.P339P|AMOTL1_ENST00000317829.8_Silent_p.P289P NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 339 NA establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055) apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923) identical protein binding (GO:0042802) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ACCAGCACCCCGGGATGCTCC 0.587 NA C||| 1309 0.261382 0.0719 0.464 5008 , , NA 16586 0.4444 NA 0.1889 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 C 368,3618 18,332,1643 123 124 124 1017 -10.3 0.1 11 dbSNP_100 124 1729,6613 177,1375,2619 no coding-synonymous AMOTL1 NM_130847.2 195,1707,4262 TT,TC,CC 20.7264,9.2323,17.0101 339/957 94533373 2097,10231 1993 4171 6164 SO:0001819 synonymous_variant AF453742 CCDS44712.1, CCDS73368.1 11q21 2008-07-18 ENSG00000166025 154810 17811 protein-coding gene gene with protein product junction-enriched and associated protein 614657 NA 11733531 Standard NM_130847 XM_005273798 NA Approved JEAP uc001pfb.3 Q8IY63 ENST00000433060.2:c.1017C>T chr11.hg19:g.94533373C>T NA Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5 hg19 CCDS44712.1 0.02 23.724676 CCCxGGG COVERED NOVEL AMOTL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396474.3 2 46.043667 KEEP 0 0 0 153 5176 CC 1 1 0 + 29 60 1107 0 0 75.988383 490 60 17118 840 ENST00000433060.2 0.055877 1 CWC15 51503 __UNKNOWN__ __UNKNOWN__ 11 94704037 94704037 __UNKNOWN__ Intron SNP C C G rs3737505 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94704037C>G ENST00000545018.1 - 4 456 CWC15_ENST00000279839.6_Intron Q9P013 CWC15_HUMAN CWC15 spliceosome-associated protein NA NA mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) RNA binding (GO:0003723) NA Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATAACAGTAACTAAACATAAA 0.274 NA G||| 2560 0.511182 0.5862 0.5144 5008 , , NA 19541 0.2688 NA 0.659 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161497 CCDS73369.1 11q21 2014-07-03 2014-07-03 ENSG00000150316 51503 26939 protein-coding gene gene with protein product CWC15 homolog (S. cerevisiae), CWC15 spliceosome-associated protein homolog (S. cerevisiae) NA 10873569, 11884590 Standard NM_016403 NM_016403 NA Approved C11orf5, HSPC148, Cwf15, AD002 uc001pfd.4 Q9P013 ENST00000545018.1:c.1119+103G>C chr11.hg19:g.94704037C>G NA B2RC17|Q05BV9|Q05DM1|Q9UI29 hg19 0.02 4.511187 TAAxTAA COVERED NOVEL CWC15-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000396686.2 1 3.912596 KEEP 0 0 0 13 442 CC 0.994391 0.994384 0 - 7 60 269 0 0 19.10591 97 60 3454 125 ENST00000545018.1 0.067308 0.999993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 94782556 94782556 __UNKNOWN__ IGR SNP T T G rs58531279 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94782556T>G NA NA KDM4E (21796 upstream) : SRSF8 (17804 downstream) NA NA NA ACCGAAGAACTTGGGAGTCAG 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.94782556T>G NA hg19 0.02 -0.368454 AACxTGG COVERED NOVEL 0 2 3.008875 KEEP 0 0 0 10 305 TT 0.992708 0.90244 0 7 40 221 0 0 17.385817 33 60 1234 55 0.175 0.909069 ENDOD1 23052 __UNKNOWN__ __UNKNOWN__ 11 94862288 94862288 __UNKNOWN__ Missense_Mutation SNP G G A rs3740862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94862288G>A ENST00000278505.4 + 2 1166 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 350 NA V -> M (in dbSNP:rs3740862). extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) TTATTACCTTGTGGTAGCAAT 0.443 NA G||| 337 0.0672923 0.0038 0.049 5008 , , NA 21170 0.0337 NA 0.0775 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 G MET/VAL 53,3655 1,51,1802 71 63 65 1048 0.7 0 11 dbSNP_107 65 611,7587 33,545,3521 yes missense ENDOD1 NM_015036.2 21 34,596,5323 AA,AG,GG 7.453,1.4293,5.577 benign 350/501 94862288 664,11242 1854 4099 5953 SO:0001583 missense BC026191 CCDS41699.1 11q21 2010-03-19 ENSG00000149218 ENSG00000149218 23052 29129 protein-coding gene gene with protein product NA 10048485 Standard NM_015036 NM_015036 NA Approved KIAA0830 uc001pfh.3 O94919 OTTHUMG00000167835 ENST00000278505.4:c.1048G>A chr11.hg19:g.94862288G>A ENSP00000278505:p.Val350Met NA A8K6K8|Q6GQY5|Q8TAQ8 hg19 CCDS41699.1 0.02 12.988392 CTTxTGG COVERED 107 0.04899267399267399 1 0.0020325203252032522 19 0.052486187845303865 29 0.050699300699300696 58 0.07651715039577836 G 5.885 0.347490 0.11126 0.014293 0.07453 ENSG00000149218 ENST00000278505 T 0.38887 1.11 5.93 0.712 0.18167 . 0.927126 0.09078 N 0.851682 T 0.01454 0.0047 L 0.33485 1.01 0.09310 N 1 B 0.16396 0.017 B 0.18561 0.022 T 0.15665 -1.0429 10 0.46703 T 0.11 -0.4081 2.4064 0.04414 0.2336:0.095:0.4767:0.1948 rs3740862;rs17620204;rs56990169;rs3740862 350 O94919 ENDD1_HUMAN M 350 ENSP00000278505:V350M ENSP00000278505:V350M V + 1 0 ENDOD1 94501936 0.000000 0.05858 0.000000 0.03702 0.305000 0.27757 0.180000 0.16860 0.106000 0.17784 0.557000 0.71058 GTG NOVEL ENDOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396545.1 5 18.058712 KEEP 0 0 0 60 2135 GG 1 1 0 + 13 60 478 0 0 30.13911 322 60 12138 459 ENST00000278505.4 0.038806 1 ENDOD1 23052 __UNKNOWN__ __UNKNOWN__ 11 94863186 94863186 __UNKNOWN__ 3'UTR SNP C C A rs503612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94863186C>A ENST00000278505.4 + 0 2064 NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) AAAAAAAAATCTGCAGCCAAT 0.388 NA C||| 2094 0.418131 0.2421 0.487 5008 , , NA 17828 0.6419 NA 0.4493 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026191 CCDS41699.1 11q21 2010-03-19 ENSG00000149218 ENSG00000149218 23052 29129 protein-coding gene gene with protein product NA 10048485 Standard NM_015036 NM_015036 NA Approved KIAA0830 uc001pfh.3 O94919 OTTHUMG00000167835 ENST00000278505.4:c.*443C>A chr11.hg19:g.94863186C>A NA A8K6K8|Q6GQY5|Q8TAQ8 hg19 CCDS41699.1 0.02 6.125953 AATxTGC COVERED NOVEL ENDOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396545.1 2 12.339661 KEEP 0 0 0 41 1425 CC 1 1 0 + 7 60 255 0 0 16.282853 157 60 5865 236 ENST00000278505.4 0.042683 1 ENDOD1 23052 __UNKNOWN__ __UNKNOWN__ 11 94865454 94865454 __UNKNOWN__ 3'UTR SNP T T G rs7729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94865454T>G ENST00000278505.4 + 0 4332 NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) GCAGACTAGGTAGTTGGGAGG 0.423 NA G||| 3506 0.70008 0.6808 0.6571 5008 , , NA 25867 0.875 NA 0.672 False NA ,,, NA NA NA 2504 0.6053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026191 CCDS41699.1 11q21 2010-03-19 ENSG00000149218 ENSG00000149218 23052 29129 protein-coding gene gene with protein product NA 10048485 Standard NM_015036 NM_015036 NA Approved KIAA0830 uc001pfh.3 O94919 OTTHUMG00000167835 ENST00000278505.4:c.*2711T>G chr11.hg19:g.94865454T>G NA A8K6K8|Q6GQY5|Q8TAQ8 hg19 CCDS41699.1 0.02 3.839457 AGGxAGT COVERED NOVEL ENDOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396545.1 0 3.037684 KEEP 0 1 5 12 387 TT 0.994391 0.994391 0 + 6 60 215 0 0 13.592463 135 60 4607 172 ENST00000278505.4 0.042553 1 SESN3 143686 __UNKNOWN__ __UNKNOWN__ 11 94901188 94901188 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94901188A>G ENST00000536441.1 - 0 7046 RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 NA NA glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868) nucleus (GO:0005634) endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) AACCCAGGAAAGCCTGGTTAA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK096300 CCDS8303.1, CCDS60938.1 11q21 2005-09-18 ENSG00000149212 ENSG00000149212 143686 23060 protein-coding gene gene with protein product 607768 NA 12607115 Standard NM_144665 NM_144665 NA Approved SEST3, MGC29667 uc001pfj.4 P58005 OTTHUMG00000167829 ENST00000536441.1:c.*5231T>C chr11.hg19:g.94901188A>G NA B7Z7P9|Q96AD1 hg19 CCDS8303.1 0.02 4.27891 GAAxGCC COVERED NOVEL SESN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396475.3 1 9.63003 KEEP 0 0 0 32 1039 AA 0.999997 0.999997 0 - 6 60 226 0 0 15.010961 119 60 4339 183 ENST00000536441.1 0.048 0.999999 SESN3 143686 __UNKNOWN__ __UNKNOWN__ 11 94963937 94963937 __UNKNOWN__ Intron SNP G G A rs4753658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:94963937G>A ENST00000278499.2 - 1 385 SESN3_ENST00000416495.2_Intron|SESN3_ENST00000393234.1_Intron|RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000543150.1_RNA|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000536441.1_Intron|SESN3_ENST00000537480.1_Intron P58005 SESN3_HUMAN sestrin 3 NA NA glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868) nucleus (GO:0005634) endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) ACCCCGGGCCGAACCCGTACC 0.756 NA G||| 730 0.145767 0.0772 0.1671 5008 , , NA 8644 0.3522 NA 0.0239 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 G 209,3959 2,205,1877 8 11 10 -0.6 0 11 dbSNP_111 10 143,8073 0,143,3965 no intron SESN3 NM_144665.2 2,348,5842 AA,AG,GG 1.7405,5.0144,2.8424 94963937 352,12032 2084 4108 6192 SO:0001627 intron_variant AK096300 CCDS8303.1, CCDS60938.1 11q21 2005-09-18 ENSG00000149212 ENSG00000149212 143686 23060 protein-coding gene gene with protein product 607768 NA 12607115 Standard NM_144665 NM_144665 NA Approved SEST3, MGC29667 uc001pfj.4 P58005 OTTHUMG00000167829 ENST00000278499.2:c.155+1383C>T chr11.hg19:g.94963937G>A NA B7Z7P9|Q96AD1 hg19 0.02 5.897891 GCCxAAC COVERED NOVEL SESN3-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396479.1 0 60.463009 KEEP 0 0 0 201 6698 GG 1 1 0 - 6 60 215 0 1 12.965146 173 60 5670 551 ENST00000278499.2 0.03352 1 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95709990 95709990 __UNKNOWN__ 3'UTR SNP C C T rs1053815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:95709990C>T ENST00000524717.1 - 0 6877 NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) NA NA gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) AGCCATACAACAAAAGCGTTT 0.358 NA T MECT1, CRTC3 salivary gland mucoepidermoid T||| 2429 0.485024 0.6475 0.5173 5008 , , NA 19046 0.4514 NA 0.3101 False NA ,,, NA NA NA 2504 0.4571 NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.*2122G>A chr11.hg19:g.95709990C>T NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 6.751047 CAAxAAA COVERED NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 0 2.340951 KEEP 0 1 29 18 614 CC 0.99986 0.99986 0 - 12 60 443 0 0 31.487938 149 60 5674 209 ENST00000524717.1 0.074534 1 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95710493 95710493 __UNKNOWN__ 3'UTR SNP A A C rs7130522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:95710493A>C ENST00000524717.1 - 0 6374 NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) NA NA gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) ATATTTACAAACTAGCACAGG 0.313 NA T MECT1, CRTC3 salivary gland mucoepidermoid C||| 2258 0.450879 0.5832 0.5043 5008 , , NA 15052 0.4504 NA 0.3002 False NA ,,, NA NA NA 2504 0.3896 NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.*1619T>G chr11.hg19:g.95710493A>C NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 4.308529 CAAxCTA COVERED NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 1 5.854295 KEEP 0 1 39 33 1064 AA 0.999998 0.999998 0 - 11 60 408 0 0 29.570623 122 60 4381 211 ENST00000524717.1 0.082707 1 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95711448 95711448 __UNKNOWN__ 3'UTR SNP T T G rs7930268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:95711448T>G ENST00000524717.1 - 0 5419 NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) NA NA gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CACAGCTCTATATTTTTGTTT 0.343 NA T MECT1, CRTC3 salivary gland mucoepidermoid T||| 1786 0.356629 0.3555 0.4236 5008 , , NA 18611 0.3859 NA 0.2644 False NA ,,, NA NA NA 2504 0.3753 NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.*664A>C chr11.hg19:g.95711448T>G NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 9.854655 CTAxATT COVERED NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 2 14.141195 KEEP 0 0 0 47 1485 TT 1 1 0 - 14 60 543 0 0 38.468463 202 60 7428 320 ENST00000524717.1 0.064815 1 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95711914 95711914 __UNKNOWN__ 3'UTR SNP A A G rs7104987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:95711914A>G ENST00000524717.1 - 0 4953 NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) NA NA gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TGATCCCAATATTTTACTTTC 0.333 NA T MECT1, CRTC3 salivary gland mucoepidermoid G||| 2499 0.499002 0.5877 0.5346 5008 , , NA 19356 0.4633 NA 0.3479 False NA ,,, NA NA NA 2504 0.546 NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.*198T>C chr11.hg19:g.95711914A>G NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 7.039785 AATxTTT COVERED NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 3 2.340945 KEEP 0 1 35 20 596 AA 0.999869 0.999869 0 - 17 60 633 0 0 46.760966 168 60 5894 221 ENST00000524717.1 0.091892 1 MAML2 84441 __UNKNOWN__ __UNKNOWN__ 11 95712897 95712897 __UNKNOWN__ Missense_Mutation SNP G G T rs7123133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:95712897G>T ENST00000524717.1 - 5 3970 c.2686C>A c.(2686-2688)Cca>Aca p.P896T NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 896 NA P -> T (in dbSNP:rs7123133). gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367) Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) transcription coactivator activity (GO:0003713) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) AATTGCTTTGGGTTTCTCTGT 0.418 NA T MECT1, CRTC3 salivary gland mucoepidermoid G||| 441 0.0880591 0.0295 0.2579 5008 , , NA 22733 0.0397 NA 0.0994 False NA ,,, NA NA NA 2504 0.0849 NA NA NA Dom yes 11 11q22-q23 84441 mastermind-like 2 (Drosophila) E 0 G THR/PRO 161,3663 5,151,1756 234 216 222 2686 2.9 1 11 dbSNP_116 222 836,7396 38,760,3318 yes missense MAML2 NM_032427.1 38 43,911,5074 TT,TG,GG 10.1555,4.2103,8.2697 benign 896/1157 95712897 997,11059 1912 4116 6028 SO:0001583 missense AB058722 CCDS44714.1 11q 2008-02-05 2001-11-28 ENSG00000184384 ENSG00000184384 84441 16259 protein-coding gene gene with protein product 607537 mastermind (Drosophila)-like 2 NA 12370315, 12386158 Standard NM_032427 NA Approved KIAA1819, MAM3 uc001pfw.1 Q8IZL2 OTTHUMG00000167677 ENST00000524717.1:c.2686C>A chr11.hg19:g.95712897G>T ENSP00000434552:p.Pro896Thr NA A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6 hg19 CCDS44714.1 0.02 20.372662 TTGxGTT COVERED 207 0.09478021978021978 21 0.042682926829268296 91 0.2513812154696133 19 0.033216783216783216 76 0.10026385224274406 G 10.23 1.292169 0.23564 0.042103 0.101555 ENSG00000184384 ENST00000524717;ENST00000440572 T;T 0.42900 0.96;0.96 4.95 2.87 0.33458 . 0.273631 0.30329 N 0.009861 T 0.00012 0.0000 N 0.04297 -0.235 0.36575 P 0.12678 B 0.22683 0.073 B 0.20767 0.031 T 0.23904 -1.0175 9 0.13108 T 0.6 -5.5765 13.8673 0.63596 0.0:0.0:0.7172:0.2828 rs7123133;rs52826179;rs7123133 896 Q8IZL2 MAML2_HUMAN T 896 ENSP00000434552:P896T;ENSP00000412394:P896T ENSP00000412394:P896T P - 1 0 MAML2 95352545 1.000000 0.71417 1.000000 0.80357 0.904000 0.53231 2.712000 0.47186 1.152000 0.42452 0.561000 0.74099 CCA NOVEL MAML2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395540.1 1 24.980848 KEEP 0 0 0 83 2920 GG 1 1 0 - 14 60 497 0 0 28.248224 523 60 18973 736 ENST00000524717.1 0.026071 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 98097440 98097440 __UNKNOWN__ IGR SNP C C T rs3018264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:98097440C>T NA NA RP11-379J13.2 (283678 upstream) : RP11-115E19.1 (449680 downstream) NA NA NA ccgagacgggcggatcacgag 0.522 NA C||| 2033 0.40595 0.3525 0.3631 5008 , , NA 12551 0.4177 NA 0.3976 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.98097440C>T NA hg19 0.02 -0.078959 GGGxGGA UNCOVERED NOVEL 0 2 2.406037 KEEP 1 0 0 8 265 CC 0 0 0 6 60 222 0 0 22.574547 3 60 112 26 0.666667 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 100537275 100537275 __UNKNOWN__ IGR SNP A A G rs79152974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100537275A>G NA NA RN7SL222P (24271 upstream) : CTD-2383M3.1 (17617 downstream) NA NA NA CTGTTTGCAGACAAGTTTCCA 0.473 NA A||| 379 0.0756789 0.0038 0.0476 5008 , , NA 19042 0.2252 NA 0.0676 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.100537275A>G NA hg19 0.02 2.205248 CAGxCAA COVERED NOVEL 0 0 6.016899 KEEP 0 0 0 20 624 AA 0.999863 0.976731 0 4 60 147 0 0 10.384302 51 60 1826 90 0.072727 0.976865 ARHGAP42 143872 __UNKNOWN__ __UNKNOWN__ 11 100811491 100811491 __UNKNOWN__ Intron SNP G G A rs12418450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100811491G>A ENST00000524892.2 + 8 756 ARHGAP42_ENST00000298815.8_Intron A6NI28 RHG42_HUMAN Rho GTPase activating protein 42 NA NA signal transduction (GO:0007165) intracellular (GO:0005622) GTPase activator activity (GO:0005096) endometrium(3)|skin(2) 5 TCTTAGATGCGTGATTCATTC 0.323 NA G||| 443 0.0884585 0.0113 0.1095 5008 , , NA 19341 0.2649 NA 0.0447 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 11q22.1 2012-04-19 ENSG00000165895 ENSG00000165895 143872 Rho GTPase activating proteins 26545 protein-coding gene gene with protein product 615936 NA 18954304 Standard NM_152432 NM_152432 NA Approved FLJ32810, GRAF3 uc001pge.2 A6NI28 OTTHUMG00000167530 ENST00000524892.2:c.731-1024G>A chr11.hg19:g.100811491G>A NA Q96M56 hg19 0.02 4.25813 TGCxTGA COVERED NOVEL ARHGAP42-003 NOVEL basic protein_coding NA protein_coding OTTHUMT00000395131.2 4 8.125374 KEEP 0 0 0 27 913 GG 0.999988 0.999985 0 + 7 60 264 0 0 18.287714 108 70 3829 175 ENST00000524892.2 0.06087 0.999997 ARHGAP42 143872 __UNKNOWN__ __UNKNOWN__ 11 100832577 100832577 __UNKNOWN__ Intron SNP G G C rs77998334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100832577G>C ENST00000524892.2 + 14 1309 ARHGAP42_ENST00000298815.8_Intron A6NI28 RHG42_HUMAN Rho GTPase activating protein 42 NA NA signal transduction (GO:0007165) intracellular (GO:0005622) GTPase activator activity (GO:0005096) endometrium(3)|skin(2) 5 TGATTTCTTGGAGCCTGTGTC 0.443 NA G||| 428 0.0854633 0.0 0.1066 5008 , , NA 17271 0.2669 NA 0.0447 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 11q22.1 2012-04-19 ENSG00000165895 ENSG00000165895 143872 Rho GTPase activating proteins 26545 protein-coding gene gene with protein product 615936 NA 18954304 Standard NM_152432 NM_152432 NA Approved FLJ32810, GRAF3 uc001pge.2 A6NI28 OTTHUMG00000167530 ENST00000524892.2:c.1283+78G>C chr11.hg19:g.100832577G>C NA Q96M56 hg19 0.02 7.123873 TTGxAGC COVERED NOVEL ARHGAP42-003 NOVEL basic protein_coding NA protein_coding OTTHUMT00000395131.2 1 5.116601 KEEP 0 0 0 17 591 GG 0.999366 0.999366 0 + 7 60 269 0 0 17.681165 157 60 5876 204 ENST00000524892.2 0.042683 1 ARHGAP42 143872 __UNKNOWN__ __UNKNOWN__ 11 100847069 100847069 __UNKNOWN__ Missense_Mutation SNP G G A rs569336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100847069G>A ENST00000524892.2 + 19 2061 c.2035G>A c.(2035-2037)Gtt>Att p.V679I ARHGAP42_ENST00000298815.8_Missense_Mutation_p.V713I A6NI28 RHG42_HUMAN Rho GTPase activating protein 42 713 Ser-rich. NA signal transduction (GO:0007165) intracellular (GO:0005622) GTPase activator activity (GO:0005096) endometrium(3)|skin(2) 5 CCCAGGAGACGTTTCCCCACC 0.488 NA G||| 2485 0.496206 0.1505 0.5274 5008 , , NA 21331 0.997 NA 0.2883 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 G ILE/VAL 307,1077 34,239,419 64 49 54 2137 2.4 0 11 dbSNP_83 54 987,2195 160,667,764 yes missense ARHGAP42 NM_152432.2 29 194,906,1183 AA,AG,GG 31.0182,22.1821,28.3399 benign 713/875 100847069 1294,3272 692 1591 2283 SO:0001583 missense 11q22.1 2012-04-19 ENSG00000165895 ENSG00000165895 143872 Rho GTPase activating proteins 26545 protein-coding gene gene with protein product 615936 NA 18954304 Standard NM_152432 NM_152432 NA Approved FLJ32810, GRAF3 uc001pge.2 A6NI28 OTTHUMG00000167530 ENST00000524892.2:c.2035G>A chr11.hg19:g.100847069G>A ENSP00000431776:p.Val679Ile NA Q96M56 hg19 0.02 4.545497 GACxTTT COVERED 1052 0.4816849816849817 87 0.17682926829268292 168 0.46408839779005523 572 1.0 225 0.29683377308707126 G 3.367 -0.129186 0.06753 0.221821 0.310182 ENSG00000165895 ENST00000524892;ENST00000298815 T;T 0.06849 3.25;3.34 5.7 2.36 0.29203 . . . . . T 0.00012 0.0000 L 0.34521 1.04 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.37753 -0.9692 8 0.33141 T 0.24 . 12.4883 0.55885 0.2148:0.0:0.7852:0.0 rs569336;rs52827090;rs58116702;rs569336 713 A6NI28 RHG42_HUMAN I 679;713 ENSP00000431776:V679I;ENSP00000298815:V713I ENSP00000298815:V713I V + 1 0 ARHGAP42 100352279 0.011000 0.17503 0.008000 0.14137 0.397000 0.30659 1.390000 0.34464 0.760000 0.33108 0.655000 0.94253 GTT NOVEL ARHGAP42-003 NOVEL basic protein_coding NA protein_coding OTTHUMT00000395131.2 2 3.009315 KEEP 0 0 0 10 321 GG 0.992708 0.992695 0 + 10 60 378 0 0 28.232598 95 60 3159 119 ENST00000524892.2 0.095238 0.999987 ARHGAP42 143872 __UNKNOWN__ __UNKNOWN__ 11 100847749 100847749 __UNKNOWN__ Intron SNP A A G rs575734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100847749A>G ENST00000524892.2 + 20 2317 ARHGAP42_ENST00000298815.8_Intron A6NI28 RHG42_HUMAN Rho GTPase activating protein 42 NA NA signal transduction (GO:0007165) intracellular (GO:0005622) GTPase activator activity (GO:0005096) endometrium(3)|skin(2) 5 GGATACAGAGAGGAGTTGAGT 0.453 NA A||| 1932 0.385783 0.1142 0.4135 5008 , , NA 19417 0.6835 NA 0.2286 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 A 242,1142 21,200,471 58 54 55 -0.7 0 11 dbSNP_83 55 814,2368 109,596,886 no intron ARHGAP42 NM_152432.2 130,796,1357 GG,GA,AA 25.5814,17.4855,23.1275 100847749 1056,3510 692 1591 2283 SO:0001627 intron_variant 11q22.1 2012-04-19 ENSG00000165895 ENSG00000165895 143872 Rho GTPase activating proteins 26545 protein-coding gene gene with protein product 615936 NA 18954304 Standard NM_152432 NM_152432 NA Approved FLJ32810, GRAF3 uc001pge.2 A6NI28 OTTHUMG00000167530 ENST00000524892.2:c.2291+47A>G chr11.hg19:g.100847749A>G NA Q96M56 hg19 0.02 3.915305 GAGxGGA COVERED NOVEL ARHGAP42-003 NOVEL basic protein_coding NA protein_coding OTTHUMT00000395131.2 0 10.526128 KEEP 0 0 0 35 1087 AA 0.999999 0.999997 0 + 5 60 179 0 0 11.24495 116 60 4276 195 ENST00000524892.2 0.041322 0.999999 ARHGAP42 143872 __UNKNOWN__ __UNKNOWN__ 11 100856632 100856632 __UNKNOWN__ Intron SNP T T C rs629813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100856632T>C ENST00000524892.2 + 22 2380 ARHGAP42_ENST00000298815.8_Intron A6NI28 RHG42_HUMAN Rho GTPase activating protein 42 NA NA signal transduction (GO:0007165) intracellular (GO:0005622) GTPase activator activity (GO:0005096) endometrium(3)|skin(2) 5 GAAATTATAATGTAATGCTGC 0.483 NA T||| 1402 0.279952 0.0855 0.3415 5008 , , NA 19246 0.4683 NA 0.17 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 11q22.1 2012-04-19 ENSG00000165895 ENSG00000165895 143872 Rho GTPase activating proteins 26545 protein-coding gene gene with protein product 615936 NA 18954304 Standard NM_152432 NM_152432 NA Approved FLJ32810, GRAF3 uc001pge.2 A6NI28 OTTHUMG00000167530 ENST00000524892.2:c.2355-1612T>C chr11.hg19:g.100856632T>C NA Q96M56 hg19 0.02 1.760249 TAAxGTA COVERED NOVEL ARHGAP42-003 NOVEL basic protein_coding NA protein_coding OTTHUMT00000395131.2 2 5.1132 KEEP 0 0 0 17 484 TT 0.999366 0.998854 0 + 4 60 146 0 0 9.548539 79 60 2832 103 ENST00000524892.2 0.048193 0.999487 TMEM133 83935 __UNKNOWN__ __UNKNOWN__ 11 100863096 100863096 __UNKNOWN__ Silent SNP A A G rs515552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100863096A>G ENST00000303130.2 + 1 286 c.57A>G c.(55-57)gaA>gaG p.E19E NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 19 NA integral component of membrane (GO:0016021) kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CAGGTCACGAAAAAGAACACA 0.433 NA A||| 1944 0.388179 0.1248 0.3977 5008 , , NA 21672 0.7579 NA 0.2028 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 A 592,3814 250.0+/-257.2 44,504,1655 88 83 85 57 -0.3 0 11 dbSNP_83 85 1808,6792 314.1+/-311.6 200,1408,2692 no coding-synonymous TMEM133 NM_032021.2 244,1912,4347 GG,GA,AA 21.0233,13.4362,18.453 19/130 100863096 2400,10606 2203 4300 6503 SO:0001819 synonymous_variant AF247167 CCDS8309.1 11q22.1 2006-03-09 ENSG00000170647 83935 24033 protein-coding gene gene with protein product NA 12477932 Standard NM_032021 NM_032021 NA Approved AD031 uc001pgf.3 Q9H2Q1 ENST00000303130.2:c.57A>G chr11.hg19:g.100863096A>G NA hg19 CCDS8309.1 0.02 16.5352 CGAxAAA COVERED NOVEL TMEM133-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395137.1 3 25.042796 KEEP 0 2 65 106 3334 AA 1 1 0 + 13 60 492 0 0 31.297711 336 60 12167 580 ENST00000303130.2 0.037249 1 TMEM133 83935 __UNKNOWN__ __UNKNOWN__ 11 100863196 100863196 __UNKNOWN__ Missense_Mutation SNP T T C rs77738491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100863196T>C ENST00000303130.2 + 1 386 c.157T>C c.(157-159)Ttt>Ctt p.F53L NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 53 NA integral component of membrane (GO:0016021) kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) CTCCTACCCTTTTTTGTTACC 0.383 NA T||| 180 0.0359425 0.0 0.0317 5008 , , NA 20071 0.1458 NA 0.0 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 T LEU/PHE 2,4404 4.2+/-10.8 0,2,2201 133 132 132 157 -0.8 0 11 dbSNP_131 132 0,8600 0,0,4300 yes missense TMEM133 NM_032021.2 22 0,2,6501 CC,CT,TT 0.0,0.0454,0.0154 possibly-damaging 53/130 100863196 2,13004 2203 4300 6503 SO:0001583 missense AF247167 CCDS8309.1 11q22.1 2006-03-09 ENSG00000170647 83935 24033 protein-coding gene gene with protein product NA 12477932 Standard NM_032021 NM_032021 NA Approved AD031 uc001pgf.3 Q9H2Q1 ENST00000303130.2:c.157T>C chr11.hg19:g.100863196T>C ENSP00000303999:p.Phe53Leu NA hg19 CCDS8309.1 0.02 19.067306 CCTxTTT COVERED 90 0.04120879120879121 0 0.0 6 0.016574585635359115 84 0.14685314685314685 0 0.0 T 14.30 2.493615 0.44352 4.54E-4 0.0 ENSG00000170647 ENST00000303130 . . . 3.16 -0.805 0.10879 . . . . . T 0.00073 0.0002 N 0.08118 0 0.80722 P 0.0 B 0.25312 0.123 B 0.18871 0.023 T 0.17715 -1.0360 7 0.87932 D 0 . 4.4376 0.11557 0.1877:0.0:0.4499:0.3624 . 53 Q9H2Q1 TM133_HUMAN L 53 . ENSP00000303999:F53L F + 1 0 TMEM133 100368406 0.001000 0.12720 0.002000 0.10522 0.538000 0.34931 -0.055000 0.11807 -0.160000 0.11002 0.533000 0.62120 TTT NOVEL TMEM133-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395137.1 4 31.288539 KEEP 0 0 0 104 3211 TT 1 1 0 + 17 60 654 0 0 42.314491 420 60 14964 621 ENST00000303130.2 0.038902 1 TMEM133 83935 __UNKNOWN__ __UNKNOWN__ 11 100863319 100863319 __UNKNOWN__ Missense_Mutation SNP A A C rs61995873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100863319A>C ENST00000303130.2 + 1 509 c.280A>C c.(280-282)Aat>Cat p.N94H NM_032021.2 NP_114410.1 Q9H2Q1 TM133_HUMAN transmembrane protein 133 94 NA integral component of membrane (GO:0016021) kidney(2)|large_intestine(1)|lung(1)|prostate(1) 5 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) AACTGGTCTCAATTTCCTGAA 0.413 NA A||| 351 0.0700879 0.0 0.1081 5008 , , NA 20706 0.1855 NA 0.0467 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 A HIS/ASN 56,4350 56.8+/-93.2 0,56,2147 189 176 180 280 -0.5 0 11 dbSNP_129 180 398,8202 127.0+/-185.4 7,384,3909 yes missense TMEM133 NM_032021.2 68 7,440,6056 CC,CA,AA 4.6279,1.271,3.4907 benign 94/130 100863319 454,12552 2203 4300 6503 SO:0001583 missense AF247167 CCDS8309.1 11q22.1 2006-03-09 ENSG00000170647 83935 24033 protein-coding gene gene with protein product NA 12477932 Standard NM_032021 NM_032021 NA Approved AD031 uc001pgf.3 Q9H2Q1 ENST00000303130.2:c.280A>C chr11.hg19:g.100863319A>C ENSP00000303999:p.Asn94His NA hg19 CCDS8309.1 0.02 24.216082 CTCxATT COVERED 187 0.08562271062271062 0 0.0 38 0.10497237569060773 116 0.20279720279720279 33 0.04353562005277045 A 7.288 0.610544 0.14066 0.01271 0.046279 ENSG00000170647 ENST00000303130 . . . 4.59 -0.537 0.11872 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.26809 0.16 B 0.29598 0.104 T 0.28554 -1.0040 7 0.87932 D 0 . 4.1765 0.10355 0.4575:0.35:0.1925:0.0 rs61995873 94 Q9H2Q1 TM133_HUMAN H 94 . ENSP00000303999:N94H N + 1 0 TMEM133 100368529 0.001000 0.12720 0.005000 0.12908 0.024000 0.10985 0.962000 0.29280 0.017000 0.15025 0.533000 0.62120 AAT NOVEL TMEM133-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395137.1 3 36.104529 KEEP 0 0 0 120 3715 AA 1 1 0 + 16 60 597 0 0 35.885406 537 60 19848 823 ENST00000303130.2 0.028933 1 PGR 5241 __UNKNOWN__ __UNKNOWN__ 11 100902994 100902994 __UNKNOWN__ 3'UTR SNP T T C rs561610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100902994T>C ENST00000325455.5 - 0 11108 NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor NA NA cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367) mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421) ATGTTTATGatcatcattttc 0.383 NA C||| 3914 0.78155 0.7821 0.7911 5008 , , NA 19812 0.9266 NA 0.7048 False NA ,,, NA NA NA 2504 0.7035 NA NA NA Pancreas(124;2271 2354 21954 22882) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 5241 Nuclear hormone receptors 8910 protein-coding gene gene with protein product 607311 NA Standard NM_000926 NA Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.*6853A>G chr11.hg19:g.100902994T>C NA A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 hg19 CCDS8310.1 0.02 10.745017 TGAxCAT COVERED NOVEL PGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394934.1 2 19.224736 KEEP 0 2 69 88 2747 TT 1 1 0 - 10 60 360 0 0 22.157861 263 60 9659 428 ENST00000325455.5 0.03663 1 PGR 5241 __UNKNOWN__ __UNKNOWN__ 11 100905709 100905709 __UNKNOWN__ 3'UTR SNP T T G rs473409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100905709T>G ENST00000325455.5 - 0 8393 NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor NA NA cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367) mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421) GTTCTTTTCATTAAAATGATT 0.328 NA T||| 1304 0.260383 0.3835 0.2795 5008 , , NA 18976 0.2153 NA 0.2704 False NA ,,, NA NA NA 2504 0.1166 NA NA NA Pancreas(124;2271 2354 21954 22882) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 5241 Nuclear hormone receptors 8910 protein-coding gene gene with protein product 607311 NA Standard NM_000926 NA Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.*4138A>C chr11.hg19:g.100905709T>G NA A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 hg19 CCDS8310.1 0.02 7.060284 TCAxTAA COVERED NOVEL PGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394934.1 2 18.954792 KEEP 0 0 0 63 1980 TT 1 1 0 - 11 60 430 0 0 29.902052 183 60 6662 305 ENST00000325455.5 0.056701 1 PGR 5241 __UNKNOWN__ __UNKNOWN__ 11 100905733 100905733 __UNKNOWN__ 3'UTR SNP A A T rs608995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100905733A>T ENST00000325455.5 - 0 8369 NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor NA NA cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367) mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421) TGACTTAGTGAAGTAAGGATA 0.318 NA T||| 1246 0.248802 0.3593 0.2651 5008 , , NA 18877 0.2153 NA 0.2565 False NA ,,, NA NA NA 2504 0.1145 NA NA NA Pancreas(124;2271 2354 21954 22882) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 5241 Nuclear hormone receptors 8910 protein-coding gene gene with protein product 607311 NA Standard NM_000926 NA Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.*4114T>A chr11.hg19:g.100905733A>T NA A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 hg19 CCDS8310.1 0.02 8.93611 GTGxAGT COVERED NOVEL PGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394934.1 1 18.654927 KEEP 0 0 0 62 1939 AA 1 1 0 - 12 60 440 0 0 29.835777 195 60 6882 310 ENST00000325455.5 0.057971 1 PGR 5241 __UNKNOWN__ __UNKNOWN__ 11 100907998 100907998 __UNKNOWN__ 3'UTR SNP C C T rs502465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100907998C>T ENST00000325455.5 - 0 6104 NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor NA NA cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367) mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421) ACCTAGTATACGTTGAGTGTA 0.323 NA T||| 4017 0.802117 0.7254 0.7997 5008 , , NA 17726 0.997 NA 0.7306 False NA ,,, NA NA NA 2504 0.7802 NA NA NA Pancreas(124;2271 2354 21954 22882) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 5241 Nuclear hormone receptors 8910 protein-coding gene gene with protein product 607311 NA Standard NM_000926 NA Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.*1849G>A chr11.hg19:g.100907998C>T NA A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 hg19 CCDS8310.1 0.02 6.395621 ATAxGTT COVERED NOVEL PGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394934.1 3 5.686904 KEEP 0 2 66 42 1390 CC 1 1 0 - 7 60 248 0 0 15.74706 149 60 5137 229 ENST00000325455.5 0.044872 1 PGR 5241 __UNKNOWN__ __UNKNOWN__ 11 100909991 100909991 __UNKNOWN__ Silent SNP T T C rs500760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:100909991T>C ENST00000325455.5 - 8 4111 c.2658A>G c.(2656-2658)caA>caG p.Q886Q PGR_ENST00000263463.5_Silent_p.Q784Q|PGR_ENST00000534013.1_Silent_p.Q292Q NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 886 Steroid-binding. NA cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367) mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421) ACAGATGAAGTTGTTTGACAA 0.323 NA T||| 1310 0.261581 0.413 0.2651 5008 , , NA 14650 0.2133 NA 0.2525 False NA ,,, NA NA NA 2504 0.1135 NA NA NA Pancreas(124;2271 2354 21954 22882) NA 0 T , 1679,2727 506.9+/-366.5 327,1025,851 85 82 83 2658,2166 -3 1 11 dbSNP_83 83 2102,6496 361.3+/-332.3 264,1574,2461 no coding-synonymous,coding-synonymous PGR NM_000926.4,NM_001202474.1 , 591,2599,3312 CC,CT,TT 24.4475,38.1071,29.0757 , 886/934,722/770 100909991 3781,9223 2203 4299 6502 SO:0001819 synonymous_variant M15716 CCDS8310.1, CCDS59229.1 11q22-q23 2013-01-16 ENSG00000082175 ENSG00000082175 5241 Nuclear hormone receptors 8910 protein-coding gene gene with protein product 607311 NA Standard NM_000926 NA Approved PR, NR3C3 uc001pgh.2 P06401 OTTHUMG00000167531 ENST00000325455.5:c.2658A>G chr11.hg19:g.100909991T>C NA A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7 hg19 CCDS8310.1 0.02 11.156058 AAGxTGT COVERED NOVEL PGR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394934.1 2 27.056022 KEEP 0 0 0 90 2867 TT 1 1 0 - 9 60 320 0 0 19.140048 274 60 9796 462 ENST00000325455.5 0.031802 1 TRPC6 7225 __UNKNOWN__ __UNKNOWN__ 11 101453995 101453995 __UNKNOWN__ Intron SNP C C T rs17096918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101453995C>T ENST00000532133.1 - 1 173 TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000526713.1_Intron|TRPC6_ENST00000344327.3_Intron|TRPC6_ENST00000348423.4_Intron Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 NA NA aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057) inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CGGACTCGGCCACTCCTGCGA 0.711 NA c||| 970 0.19369 0.0091 0.2061 5008 , , NA 10385 0.4444 NA 0.0795 False NA ,,, NA NA NA 2504 0.2935 NA NA NA Colon(166;1315 1927 11094 12848 34731) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ006276 CCDS8311.1 11q22.1 2014-02-04 ENSG00000137672 7225 Voltage-gated ion channels / Transient receptor potential cation channels 12338 protein-coding gene gene with protein product 603652 focal segmental glomerulosclerosis 2 FSGS2 NA 9925922, 16382100, 15879175 Standard NM_004621 NM_004621 NA Approved TRP6 uc001pgk.4 Q9Y210 ENST00000532133.1:c.170+69G>A chr11.hg19:g.101453995C>T NA Q52M59|Q9HCW3|Q9NQA8|Q9NQA9 hg19 0.02 1.915764 GGCxACT COVERED NOVEL TRPC6-004 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394771.1 1 7.498041 KEEP 0 0 0 25 845 CC 0.999931 0.999699 0 - 7 60 258 0 0 18.530613 81 60 2868 130 ENST00000532133.1 0.079545 0.999768 TRPC6 7225 __UNKNOWN__ __UNKNOWN__ 11 101454488 101454488 __UNKNOWN__ 5'UTR SNP G G C rs3824934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101454488G>C ENST00000344327.3 - 0 171 TRPC6_ENST00000526713.1_Intron NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 NA NA aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057) inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGGAGACCCCGCGAGGATGCG 0.672 NA G||| 987 0.197085 0.0242 0.2147 5008 , , NA 15111 0.4435 NA 0.0755 False NA ,,, NA NA NA 2504 0.2894 NA NA NA Colon(166;1315 1927 11094 12848 34731) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ006276 CCDS8311.1 11q22.1 2014-02-04 ENSG00000137672 7225 Voltage-gated ion channels / Transient receptor potential cation channels 12338 protein-coding gene gene with protein product 603652 focal segmental glomerulosclerosis 2 FSGS2 NA 9925922, 16382100, 15879175 Standard NM_004621 NM_004621 NA Approved TRP6 uc001pgk.4 Q9Y210 ENST00000344327.3:c.-254C>G chr11.hg19:g.101454488G>C NA Q52M59|Q9HCW3|Q9NQA8|Q9NQA9 hg19 CCDS8311.1 0.02 4.80877 CCCxCGA COVERED NOVEL TRPC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394770.1 1 15.914677 KEEP 0 0 0 53 1793 GG 1 1 0 - 10 60 361 0 0 25.467396 123 60 4385 236 ENST00000344327.3 0.075188 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 101761385 101761385 __UNKNOWN__ IGR SNP G G A rs12293915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101761385G>A NA NA TRPC6 (18092 upstream) : ANGPTL5 (19 downstream) NA NA NA AGATAAAGACGTATTTTAGAA 0.289 NA G||| 1376 0.27476 0.2776 0.1556 5008 , , NA 18123 0.4921 NA 0.2425 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.101761385G>A NA hg19 0.02 4.018087 GACxTAT COVERED NOVEL 0 1 3.608817 KEEP 0 0 0 12 359 GG 0.993634 0.993633 0 5 60 178 0 0 10.953653 127 60 4177 157 0.037879 1 KIAA1377 57562 __UNKNOWN__ __UNKNOWN__ 11 101826949 101826949 __UNKNOWN__ Intron SNP T T C rs930469|rs386756891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101826949T>C ENST00000263468.8 + 5 776 NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 NA NA breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AGCATTCTACTGCAGCCACTC 0.488 NA C||| 3037 0.60643 0.6664 0.464 5008 , , NA 21527 0.7321 NA 0.5348 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095004 CCDS31658.1 11q22.2 2006-02-03 ENSG00000110318 ENSG00000110318 57562 29264 protein-coding gene gene with protein product 614634 NA 10718198 Standard NM_020802 XM_005271627 NA Approved uc001pgm.3 Q9P2H0 OTTHUMG00000167319 ENST00000263468.8:c.507-1950T>C chr11.hg19:g.101826949T>C NA Q4G0U6 hg19 CCDS31658.1 0.02 26.380994 TACxGCA COVERED NOVEL KIAA1377-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394140.1 2 26.410102 KEEP 0 1 32 99 3063 TT 1 1 0 + 38 60 1244 0 0 79.152554 643 60 22500 992 ENST00000263468.8 0.0558 1 KIAA1377 57562 __UNKNOWN__ __UNKNOWN__ 11 101832590 101832590 __UNKNOWN__ Missense_Mutation SNP C C A rs11225089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101832590C>A ENST00000263468.8 + 6 1094 c.824C>A c.(823-825)tCc>tAc p.S275Y KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76Y NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 275 NA S -> Y (in dbSNP:rs11225089). breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CATTCCACATCCATCCAGCGG 0.373 NA C||| 598 0.119409 0.025 0.1037 5008 , , NA 17605 0.2748 NA 0.0517 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 C TYR/SER 112,4294 85.8+/-124.5 2,108,2093 71 69 70 824 3.9 0 11 dbSNP_120 70 334,8264 116.5+/-176.2 5,324,3970 yes missense KIAA1377 NM_020802.2 144 7,432,6063 AA,AC,CC 3.8846,2.542,3.4297 probably-damaging 275/1118 101832590 446,12558 2203 4299 6502 SO:0001583 missense AK095004 CCDS31658.1 11q22.2 2006-02-03 ENSG00000110318 ENSG00000110318 57562 29264 protein-coding gene gene with protein product 614634 NA 10718198 Standard NM_020802 XM_005271627 NA Approved uc001pgm.3 Q9P2H0 OTTHUMG00000167319 ENST00000263468.8:c.824C>A chr11.hg19:g.101832590C>A ENSP00000263468:p.Ser275Tyr NA Q4G0U6 hg19 CCDS31658.1 0.02 6.698145 CATxCAT COVERED 247 0.1130952380952381 19 0.03861788617886179 37 0.10220994475138122 154 0.2692307692307692 37 0.048812664907651716 C 11.11 1.541129 0.27563 0.02542 0.038846 ENSG00000110318 ENST00000263468;ENST00000537689 T;T 0.09350 2.99;2.99 5.79 3.92 0.45320 . 0.872596 0.09897 N 0.741566 T 0.00012 0.0000 L 0.61036 1.89 0.80722 P 0.0 D 0.59767 0.986 P 0.57152 0.814 T 0.32079 -0.9920 9 0.66056 D 0.02 -0.4923 10.1059 0.42533 0.0:0.7945:0.0:0.2055 rs11225089;rs52803305;rs61175740;rs11225089 275 Q9P2H0 K1377_HUMAN Y 275;76 ENSP00000263468:S275Y;ENSP00000443184:S76Y ENSP00000263468:S275Y S + 2 0 KIAA1377 101337800 0.056000 0.20664 0.012000 0.15200 0.167000 0.22549 1.806000 0.38892 1.457000 0.47850 0.655000 0.94253 TCC NOVEL KIAA1377-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394140.1 1 5.417385 KEEP 0 0 0 18 617 CC 0.99986 0.99986 0 + 7 60 241 0 0 14.903645 157 60 5801 213 ENST00000263468.8 0.042683 1 KIAA1377 57562 __UNKNOWN__ __UNKNOWN__ 11 101863694 101863694 __UNKNOWN__ Intron SNP T T A rs7929528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101863694T>A ENST00000263468.8 + 10 3579 KIAA1377_ENST00000537689.1_Intron NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 NA NA breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TTTATAGAGGTTTTCTCCTCA 0.279 NA T||| 692 0.138179 0.093 0.1052 5008 , , NA 15250 0.2748 NA 0.0527 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095004 CCDS31658.1 11q22.2 2006-02-03 ENSG00000110318 ENSG00000110318 57562 29264 protein-coding gene gene with protein product 614634 NA 10718198 Standard NM_020802 XM_005271627 NA Approved uc001pgm.3 Q9P2H0 OTTHUMG00000167319 ENST00000263468.8:c.3309+121T>A chr11.hg19:g.101863694T>A NA Q4G0U6 hg19 CCDS31658.1 0.02 2.123037 AGGxTTT COVERED NOVEL KIAA1377-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394140.1 1 3.6111 KEEP 0 0 0 12 392 TT 0.993634 0.96464 0 + 4 60 149 0 0 10.651036 49 60 1757 71 ENST00000263468.8 0.075472 0.97082 KIAA1377 57562 __UNKNOWN__ __UNKNOWN__ 11 101868415 101868415 __UNKNOWN__ 3'UTR SNP C C T rs1783742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101868415C>T ENST00000263468.8 + 0 3665 KIAA1377_ENST00000537689.1_3'UTR NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 NA NA breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CATGTACTTCCCTAGGACTAG 0.433 NA T||| 2893 0.577676 0.6377 0.4366 5008 , , NA 20669 0.7639 NA 0.498 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 T 2818,1588 494.3+/-362.9 904,1010,289 119 115 117 -1.6 0 11 dbSNP_89 117 4149,4449 588.7+/-392.4 1003,2143,1153 no utr-3 KIAA1377 NM_020802.2 1907,3153,1442 TT,TC,CC 48.2554,36.0418,46.4242 101868415 6967,6037 2203 4299 6502 SO:0001624 3_prime_UTR_variant AK095004 CCDS31658.1 11q22.2 2006-02-03 ENSG00000110318 ENSG00000110318 57562 29264 protein-coding gene gene with protein product 614634 NA 10718198 Standard NM_020802 XM_005271627 NA Approved uc001pgm.3 Q9P2H0 OTTHUMG00000167319 ENST00000263468.8:c.*41C>T chr11.hg19:g.101868415C>T NA Q4G0U6 hg19 CCDS31658.1 0.02 39.159408 TTCxCTA COVERED NOVEL KIAA1377-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394140.1 2 13.046159 KEEP 0 3 93 76 2637 CC 1 1 0 + 59 60 2173 0 0 151.112836 834 60 30195 1114 ENST00000263468.8 0.066069 1 KIAA1377 57562 __UNKNOWN__ __UNKNOWN__ 11 101870458 101870458 __UNKNOWN__ 3'UTR SNP A A G rs1661412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101870458A>G ENST00000263468.8 + 0 5708 NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 NA NA breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAAGAGAATAACACTTTGCAT 0.413 NA G||| 2868 0.572684 0.6104 0.4366 5008 , , NA 18894 0.7649 NA 0.498 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095004 CCDS31658.1 11q22.2 2006-02-03 ENSG00000110318 ENSG00000110318 57562 29264 protein-coding gene gene with protein product 614634 NA 10718198 Standard NM_020802 XM_005271627 NA Approved uc001pgm.3 Q9P2H0 OTTHUMG00000167319 ENST00000263468.8:c.*2084A>G chr11.hg19:g.101870458A>G NA Q4G0U6 hg19 CCDS31658.1 0.02 7.260228 ATAxCAC COVERED NOVEL KIAA1377-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394140.1 2 6.017466 KEEP 0 0 0 20 611 AA 0.999863 0.999863 0 + 15 60 569 0 0 41.130205 179 60 6325 245 ENST00000263468.8 0.07732 1 C11orf70 85016 __UNKNOWN__ __UNKNOWN__ 11 101918217 101918217 __UNKNOWN__ Missense_Mutation SNP C C T rs184947491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101918217C>T ENST00000534360.1 + 1 29 c.16C>T c.(16-18)Ctc>Ttc p.L6F C11orf70_ENST00000526781.1_Missense_Mutation_p.L6F|C11orf70_ENST00000434758.2_Missense_Mutation_p.L6F NM_001195005.1 NP_001181934.1 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 6 NA breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TACTGGGGAGCTCGGGGACTT 0.652 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 14336 0.003 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK094851 CCDS8313.1, CCDS8313.2, CCDS53698.1 11q22.1 2012-05-31 ENSG00000137691 ENSG00000137691 85016 28188 protein-coding gene gene with protein product NA Standard NM_032930 NM_032930 NA Approved MGC13040 uc001pgp.3 Q9BRQ4 OTTHUMG00000167320 ENST00000534360.1:c.16C>T chr11.hg19:g.101918217C>T ENSP00000435482:p.Leu6Phe NA E9PJU1 hg19 CCDS53698.1 0.02 7.563334 GAGxTCG COVERED 3 0.0013736263736263737 0 0.0 0 0.0 0 0.0 3 0.00395778364116095 C 2.197 -0.384004 0.04966 . . ENSG00000137691 ENST00000434758;ENST00000526781;ENST00000534360 . . . 3.82 1.74 0.24563 . . . . . T 0.10637 0.0260 N 0.08118 0 0.09310 N 1 P;B 0.37276 0.589;0.0 B;B 0.27380 0.079;0.0 T 0.15407 -1.0438 8 0.09590 T 0.72 -0.5122 7.2373 0.26077 0.0:0.7475:0.0:0.2525 . 6;6 Q9BRQ4;E9PJU1 CK070_HUMAN;. F 6 . ENSP00000414390:L6F L + 1 0 C11orf70 101423427 0.063000 0.20901 0.043000 0.18650 0.018000 0.09664 0.229000 0.17833 0.819000 0.34492 -0.448000 0.05591 CTC NOVEL C11orf70-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000394146.1 1 37.907977 KEEP 0 0 0 126 4459 CC 1 1 0 + 9 60 276 0 0 15.553228 218 60 8217 450 ENST00000534360.1 0.039648 1 C11orf70 85016 __UNKNOWN__ __UNKNOWN__ 11 101946765 101946765 __UNKNOWN__ 3'UTR SNP G G A rs151324884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101946765G>A ENST00000534360.1 + 0 443 C11orf70_ENST00000526781.1_Silent_p.K199K|C11orf70_ENST00000434758.2_Silent_p.K199K NM_001195005.1 NP_001181934.1 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 NA NA breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TTATCTATAAGGATCTGGTGA 0.348 NA G||| 23 0.00459265 0.0129 0.0 5008 , , NA 18150 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G , 29,4377 34.3+/-65.2 0,29,2174 119 118 118 ,597 2.6 1 11 dbSNP_134 118 1,8597 1.2+/-3.3 0,1,4298 no utr-3,coding-synonymous C11orf70 NM_001195005.1,NM_032930.2 , 0,30,6472 AA,AG,GG 0.0116,0.6582,0.2307 , ,199/268 101946765 30,12974 2203 4299 6502 SO:0001624 3_prime_UTR_variant AK094851 CCDS8313.1, CCDS8313.2, CCDS53698.1 11q22.1 2012-05-31 ENSG00000137691 ENSG00000137691 85016 28188 protein-coding gene gene with protein product NA Standard NM_032930 NM_032930 NA Approved MGC13040 uc001pgp.3 Q9BRQ4 OTTHUMG00000167320 ENST00000534360.1:c.*130G>A chr11.hg19:g.101946765G>A NA E9PJU1 hg19 CCDS53698.1 0.02 28.13427 TAAxGAT COVERED . . . . . . . . . . G 3.387 -0.125217 0.06795 0.006582 1.16E-4 ENSG00000137691 ENST00000529204 . . . 5.55 2.6 0.31112 . . . . . T 0.47544 0.1451 . . . 0.80722 D 1 . . . . . . T 0.40308 -0.9570 4 . . . -14.4059 7.6617 0.28407 0.4796:0.0:0.5204:0.0 . . . . K 91 . . R + 2 0 C11orf70 101451975 1.000000 0.71417 1.000000 0.80357 0.541000 0.35023 3.146000 0.50631 0.355000 0.24131 0.563000 0.77884 AGG NOVEL C11orf70-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000394146.1 3 26.184879 KEEP 0 0 0 87 3058 GG 1 1 0 + 18 60 675 0 0 39.957293 666 60 24451 909 ENST00000534360.1 0.026316 1 C11orf70 85016 __UNKNOWN__ __UNKNOWN__ 11 101946812 101946812 __UNKNOWN__ 3'UTR SNP T T A rs372015461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:101946812T>A ENST00000534360.1 + 0 490 C11orf70_ENST00000526781.1_Intron|C11orf70_ENST00000434758.2_Intron NM_001195005.1 NP_001181934.1 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 NA NA breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AAATCTCTAGTTAATAGAATA 0.333 NA T||| 6 0.00119808 0.0 0.0 5008 , , NA 17912 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 56 57 57 NA NA 11 NA 101946812 2203 4299 6502 SO:0001624 3_prime_UTR_variant AK094851 CCDS8313.1, CCDS8313.2, CCDS53698.1 11q22.1 2012-05-31 ENSG00000137691 ENSG00000137691 85016 28188 protein-coding gene gene with protein product NA Standard NM_032930 NM_032930 NA Approved MGC13040 uc001pgp.3 Q9BRQ4 OTTHUMG00000167320 ENST00000534360.1:c.*177T>A chr11.hg19:g.101946812T>A NA E9PJU1 hg19 CCDS53698.1 0.02 21.397486 TAGxTAA COVERED NOVEL C11orf70-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000394146.1 4 14.745506 KEEP 0 0 0 49 1583 TT 1 1 0 + 14 60 524 0 0 31.225562 497 60 17732 619 ENST00000534360.1 0.027397 1 BIRC3 330 __UNKNOWN__ __UNKNOWN__ 11 102207851 102207851 __UNKNOWN__ 3'UTR SNP G G A rs1055088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:102207851G>A ENST00000263464.3 + 0 4583 BIRC3_ENST00000532808.1_3'UTR NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 NA NA apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) CCAAAACATCGTCTAAACTTT 0.269 NA T MALT1 MALT G||| 3287 0.65635 0.6793 0.5937 5008 , , NA 15662 0.7242 NA 0.6093 False NA ,,, NA NA NA 2504 0.6483 NA NA NA Dom yes 11 11q22-q23 330 baculoviral IAP repeat-containing 3 L 0 G , 2962,1442 994,974,234 37 34 35 , -1.1 0 11 dbSNP_86 35 5313,3281 1661,1991,645 no utr-3,utr-3 BIRC3 NM_001165.4,NM_182962.2 , 2655,2965,879 AA,AG,GG 38.1778,32.743,36.3364 , , 102207851 8275,4723 2202 4297 6499 SO:0001624 3_prime_UTR_variant L49432 CCDS8315.1 11q22 2011-01-25 2011-01-25 ENSG00000023445 330 Baculoviral IAP repeat containing, RING-type (C3HC4) zinc fingers 591 protein-coding gene gene with protein product apoptosis inhibitor 2, TNFR2-TRAF signaling complex protein, mammalian IAP homolog C, inhibitor of apoptosis protein 1 601721 baculoviral IAP repeat-containing 3 API2 NA 8552191, 8548810 Standard NM_001165 NM_001165 NA Approved cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2 uc001pgx.3 Q13489 ENST00000263464.3:c.*18G>A chr11.hg19:g.102207851G>A NA Q16628|Q9HC27|Q9UP46 hg19 CCDS8315.1 0.02 6.333153 ATCxTCT COVERED NOVEL BIRC3-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394159.1 2 15.349415 KEEP 0 0 0 51 1763 GG 1 1 0 + 13 60 466 0 0 32.348328 173 60 6263 281 ENST00000263464.3 0.069892 1 MMP20 9313 __UNKNOWN__ __UNKNOWN__ 11 102495998 102495998 __UNKNOWN__ Missense_Mutation SNP T T G rs2245803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:102495998T>G ENST00000260228.2 - 1 65 c.53A>C c.(52-54)aAg>aCg p.K18T RP11-817J15.2_ENST00000542119.1_RNA NM_004771.3 NP_004762.2 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 20 0 NA hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508) anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) Marimastat(DB00786) AGTGGAAAACTTCAAAGCCAT 0.537 NA T||| 3388 0.676518 0.6036 0.6816 5008 , , NA 16935 0.8016 NA 0.6262 False NA ,,, NA NA NA 2504 0.6943 NA NA NA NA 0 T THR/LYS 2751,1655 657.1+/-400.2 857,1037,309 129 103 112 53 4.1 0.7 11 dbSNP_100 112 5538,3060 660.5+/-401.8 1773,1992,534 yes missense MMP20 NM_004771.3 78 2630,3029,843 GG,GT,TT 35.5897,37.5624,36.2581 benign 18/484 102495998 8289,4715 2203 4299 6502 SO:0001583 missense Y12779 CCDS8318.1 11q22.3 2008-05-22 2008-05-22 ENSG00000137674 9313 7167 protein-coding gene gene with protein product enamelysin 604629 matrix metalloproteinase 20 (enamelysin) NA 9398237 Standard NM_004771 NA Approved uc001phc.3 O60882 ENST00000260228.2:c.53A>C chr11.hg19:g.102495998T>G ENSP00000260228:p.Lys18Thr NA D3DUA8|Q9H3Q0 hg19 CCDS8318.1 0.02 13.479098 AACxTCA COVERED 1483 0.6790293040293041 301 0.6117886178861789 247 0.6823204419889503 462 0.8076923076923077 473 0.6240105540897097 T 5.964 0.361845 0.11296 0.624376 0.644103 ENSG00000137674 ENST00000260228 T 0.12774 2.65 5.26 4.12 0.48240 . 1.072100 0.07112 N 0.842373 T 0.00012 0.0000 N 0.08118 0 0.36335 P 0.14090899999999995 B 0.02656 0.0 B 0.01281 0.0 T 0.25984 -1.0116 9 0.12766 T 0.61 . 11.56 0.50772 0.0:0.0:0.1499:0.8501 rs2245803;rs11565201;rs17099166;rs58085681;rs2245803 18 O60882 MMP20_HUMAN T 18 ENSP00000260228:K18T ENSP00000260228:K18T K - 2 0 MMP20 102001208 0.997000 0.39634 0.727000 0.30756 0.562000 0.35680 2.004000 0.40854 0.999000 0.39023 0.460000 0.39030 AAG NOVEL MMP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398012.1 0 10.231686 KEEP 0 0 0 34 1099 TT 0.999998 0.999998 0 - 19 60 664 0 0 43.776203 317 60 11654 447 ENST00000260228.2 0.056548 1 MMP8 4317 __UNKNOWN__ __UNKNOWN__ 11 102583033 102583033 __UNKNOWN__ 3'UTR SNP T T A rs1939017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:102583033T>A ENST00000236826.3 - 0 2548 NM_002424.2 NP_002415.1 P22894 MMP8_HUMAN matrix metallopeptidase 8 (neutrophil collagenase) NA NA collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1) 32 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) Marimastat(DB00786) CTCTTTTGGCTGCTGTCCTGG 0.473 NA T||| 1694 0.338259 0.4009 0.2695 5008 , , NA 17347 0.503 NA 0.1372 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J05556 CCDS8320.1 11q21-q22 2008-02-05 2005-08-08 ENSG00000118113 ENSG00000118113 4317 3.4.24.34 7175 protein-coding gene gene with protein product 120355 matrix metalloproteinase 8 (neutrophil collagenase) CLG1 NA Standard NM_002424 NM_002424 NA Approved uc001phe.2 P22894 OTTHUMG00000167587 ENST00000236826.3:c.*1046A>T chr11.hg19:g.102583033T>A NA Q45F99 hg19 CCDS8320.1 0.02 6.503886 GGCxGCT COVERED NOVEL MMP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395223.1 0 3.610306 KEEP 0 0 0 12 365 TT 0.993634 0.993634 0 - 6 60 227 0 0 14.555552 148 60 5503 194 ENST00000236826.3 0.038961 1 DYNC2H1 79659 __UNKNOWN__ __UNKNOWN__ 11 103055726 103055726 __UNKNOWN__ Silent SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:103055726A>C ENST00000375735.2 + 41 6723 c.6579A>C c.(6577-6579)atA>atC p.I2193I DYNC2H1_ENST00000398093.3_Silent_p.I2193I|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2193 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522) apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTAATCTCATAAGGGGACTTG 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 157 149 151 NA NA 11 NA 103055726 1840 4088 5928 SO:0001819 synonymous_variant AB082528 CCDS44717.1, CCDS53701.1 11q21-q22.1 2011-06-02 2005-11-24 2005-11-24 ENSG00000187240 ENSG00000187240 79659 Cytoplasmic dyneins 2962 protein-coding gene gene with protein product 603297 dynein, cytoplasmic, heavy polypeptide 2 DNCH2 NA 9763680, 9373155 Standard XM_370652 NM_001080463 NA Approved hdhc11, DHC2, DHC1b, DYH1B uc001phn.1 Q8NCM8 OTTHUMG00000165941 ENST00000375735.2:c.6579A>C chr11.hg19:g.103055726A>C NA O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4 hg19 CCDS53701.1 0.02 11.224314 CATxAGG COVERED NOVEL DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387196.1 1 14.440486 KEEP 0 0 0 48 1433 AA 1 1 0 + 8 60 303 0 0 18.129728 290 60 10387 402 ENST00000375735.2 0.026846 1 DYNC2H1 79659 __UNKNOWN__ __UNKNOWN__ 11 103350192 103350192 __UNKNOWN__ 3'UTR SNP A A G rs148091830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:103350192A>G ENST00000375735.2 + 0 13279 NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522) apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774) NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAAACAGAGTATTCTTTTGAC 0.279 NA A||| 31 0.0061901 0.0 0.0 5008 , , NA 14779 0.0288 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB082528 CCDS44717.1, CCDS53701.1 11q21-q22.1 2011-06-02 2005-11-24 2005-11-24 ENSG00000187240 ENSG00000187240 79659 Cytoplasmic dyneins 2962 protein-coding gene gene with protein product 603297 dynein, cytoplasmic, heavy polypeptide 2 DNCH2 NA 9763680, 9373155 Standard XM_370652 NM_001080463 NA Approved hdhc11, DHC2, DHC1b, DYH1B uc001phn.1 Q8NCM8 OTTHUMG00000165941 ENST00000375735.2:c.*211A>G chr11.hg19:g.103350192A>G NA O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4 hg19 CCDS53701.1 0.02 8.774245 AGTxTTC COVERED NOVEL DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387196.1 1 9.628145 KEEP 0 0 0 32 986 AA 0.999997 0.999997 0 + 9 60 325 0 0 20.193093 228 60 8110 302 ENST00000375735.2 0.037975 1 DDI1 414301 __UNKNOWN__ __UNKNOWN__ 11 103908735 103908735 __UNKNOWN__ Silent SNP G G A rs1052313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:103908735G>A ENST00000302259.3 + 1 1428 c.1185G>A c.(1183-1185)gaG>gaA p.E395E PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 395 NA aspartic-type endopeptidase activity (GO:0004190) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GACGAAAAGAGCATTAAAGCA 0.423 NA G||| 1847 0.36881 0.1082 0.5807 5008 , , NA 20665 0.3988 NA 0.4751 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 G ,, 774,3608 80,614,1497 43 43 43 1185,, 4.3 0.2 11 dbSNP_86 43 4005,4579 933,2139,1220 no coding-synonymous,intron,intron PDGFD,DDI1 NM_001001711.2,NM_025208.4,NM_033135.3 ,, 1013,2753,2717 AA,AG,GG 46.6566,17.6632,36.8579 ,, 395/397,, 103908735 4779,8187 2191 4292 6483 SO:0001819 synonymous_variant CCDS31660.1 11q22.3 2010-05-04 2010-05-04 ENSG00000170967 414301 18961 protein-coding gene gene with protein product DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae) NA Standard NM_001001711 NM_001001711 NA Approved FLJ36017 uc001phr.2 Q8WTU0 ENST00000302259.3:c.1185G>A chr11.hg19:g.103908735G>A NA Q7Z4U6|Q8WTS3 hg19 CCDS31660.1 0.02 28.367145 AGAxCAT COVERED NOVEL DDI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387326.1 3 28.602835 KEEP 0 1 34 107 3830 GG 1 1 0 + 17 60 621 1 0 34.990843 732 60 27973 1046 ENST00000302259.3 0.022697 1 CASP5 838 __UNKNOWN__ __UNKNOWN__ 11 104866461 104866461 __UNKNOWN__ Intron SNP A A T rs540819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:104866461A>T ENST00000444749.2 - 8 1166 CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Intron|CASP5_ENST00000260315.3_Intron|CASP5_ENST00000393139.2_Intron NM_001136109.1 NP_001129581.1 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase NA NA apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AACTCTCAATACTTACATTTT 0.408 NA A||| 1771 0.353634 0.0552 0.3559 5008 , , NA 18343 0.5952 NA 0.4573 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 A ,,, 475,3929 225.2+/-241.2 31,413,1758 103 92 96 ,,, 1.6 0.1 11 dbSNP_83 96 3772,4826 534.1+/-382.5 817,2138,1344 no intron,intron,intron,intron CASP5 NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3 ,,, 848,2551,3102 TT,TA,AA 43.8707,10.7856,32.6642 ,,, ,,, 104866461 4247,8755 2202 4299 6501 SO:0001627 intron_variant CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1 11q22.2-q22.3 2006-02-17 2005-08-17 ENSG00000137757 ENSG00000137757 838 Caspases 1506 protein-coding gene gene with protein product 602665 caspase 5, apoptosis-related cysteine protease NA 7797592, 9250871 Standard NM_004347 NM_004347 NA Approved ICE(rel)III uc010ruz.1 P51878 OTTHUMG00000048073 ENST00000444749.2:c.1128+5T>A chr11.hg19:g.104866461A>T NA B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7 hg19 CCDS44719.1 0.02 29.035782 AATxCTT COVERED NOVEL CASP5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344191.1 3 25.571839 KEEP 0 0 0 85 2588 AA 1 1 0 - 24 60 854 0 0 50.921102 717 60 25217 973 ENST00000444749.2 0.032389 1 CASP5 838 __UNKNOWN__ __UNKNOWN__ 11 104869708 104869708 __UNKNOWN__ Missense_Mutation SNP G G C rs523104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:104869708G>C ENST00000444749.2 - 6 856 c.826C>G c.(826-828)Ctc>Gtc p.L276V CASP5_ENST00000418434.1_Missense_Mutation_p.L192V|CASP5_ENST00000393141.2_Missense_Mutation_p.L347V|CASP5_ENST00000260315.3_Missense_Mutation_p.L334V|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Missense_Mutation_p.L347V|CASP5_ENST00000531367.1_Missense_Mutation_p.L192V NM_001136109.1 NP_001129581.1 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 334 NA apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GAAGAGATGAGTGCCAAGGAT 0.418 NA C||| 2650 0.529153 0.4644 0.4035 5008 , , NA 18397 0.7728 NA 0.4732 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 C VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU 1952,2452 620.7+/-393.6 423,1106,673 117 103 108 826,574,1039,1000 -4.7 0 11 dbSNP_83 108 3947,4651 603.5+/-394.7 906,2135,1258 yes missense,missense,missense,missense CASP5 NM_001136109.1,NM_001136110.1,NM_001136112.1,NM_004347.3 32,32,32,32 1329,3241,1931 CC,CG,GG 45.906,44.3233,45.3699 benign,benign,benign,benign 276/377,192/293,347/448,334/435 104869708 5899,7103 2202 4299 6501 SO:0001583 missense CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1 11q22.2-q22.3 2006-02-17 2005-08-17 ENSG00000137757 ENSG00000137757 838 Caspases 1506 protein-coding gene gene with protein product 602665 caspase 5, apoptosis-related cysteine protease NA 7797592, 9250871 Standard NM_004347 NM_004347 NA Approved ICE(rel)III uc010ruz.1 P51878 OTTHUMG00000048073 ENST00000444749.2:c.826C>G chr11.hg19:g.104869708G>C ENSP00000388365:p.Leu276Val NA B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7 hg19 CCDS44719.1 0.02 14.344436 TGAxTGC COVERED 1145 0.5242673992673993 225 0.4573170731707317 150 0.4143646408839779 430 0.7517482517482518 340 0.44854881266490765 C 1.710 -0.499303 0.04291 0.443233 0.45906 ENSG00000137757 ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367 T;T;T;T;T;T 0.03181 4.02;4.02;4.02;4.02;4.02;4.02 4.19 -4.68 0.03309 Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1); 1.643900 0.03386 N 0.201138 T 0.00012 0.0000 N 0.00500 -1.43 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.0;0.0;0.001;0.0 T 0.29427 -1.0012 9 0.16420 T 0.52 . 1.7822 0.03034 0.1254:0.187:0.3485:0.3391 rs523104;rs3824929;rs17222987;rs52796995;rs61281764;rs523104 192;276;334;347 P51878-3;P51878-2;P51878;P51878-5 .;.;CASP5_HUMAN;. V 347;192;334;276;347;192 ENSP00000376849:L347V;ENSP00000398130:L192V;ENSP00000260315:L334V;ENSP00000388365:L276V;ENSP00000436877:L347V;ENSP00000434471:L192V ENSP00000260315:L334V L - 1 0 CASP5 104374918 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.448000 0.06820 -1.532000 0.01747 -0.968000 0.02614 CTC NOVEL CASP5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344191.1 1 22.574629 KEEP 0 0 0 75 2756 GG 1 1 0 - 18 60 686 0 0 47.181358 299 60 11352 516 ENST00000444749.2 0.056782 1 GUCY1A2 2977 __UNKNOWN__ __UNKNOWN__ 11 106695697 106695697 __UNKNOWN__ Intron SNP A A G rs77535954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:106695697A>G ENST00000347596.2 - 6 1365 GUCY1A2_ENST00000526355.2_Intron|GUCY1A2_ENST00000282249.2_Intron P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165) cytoplasm (GO:0005737) GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435) GAATGTTACTAAATTTTCTAA 0.303 NA -||| 1537 0.306909 0.2186 0.4971 5008 , , NA 14466 0.3353 NA 0.3072 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63282 CCDS8335.1, CCDS58170.1 11q21-q22 2008-03-18 ENSG00000152402 ENSG00000152402 2977 4.6.1.2 4684 protein-coding gene gene with protein product 601244 GUC1A2 NA 1683630 Standard NM_000855 NA Approved GC-SA2 uc001pjg.2 P33402 OTTHUMG00000166296 ENST00000347596.2:c.1270-14493T>C chr11.hg19:g.106695697A>G NA A1L4C4|B7ZLT5 hg19 0.02 18.482228 ACTxAAT COVERED NOVEL GUCY1A2-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000389005.1 1 12.330142 KEEP 0 0 0 41 1161 AA 1 1 0 - 20 60 746 0 0 49.172979 403 60 14415 543 ENST00000347596.2 0.047281 1 GUCY1A2 2977 __UNKNOWN__ __UNKNOWN__ 11 106696576 106696576 __UNKNOWN__ Intron SNP C C T rs2200652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:106696576C>T ENST00000347596.2 - 6 1365 GUCY1A2_ENST00000526355.2_Intron|GUCY1A2_ENST00000282249.2_Intron P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165) cytoplasm (GO:0005737) GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435) gggctgcattcgacccgtggg 0.348 NA N||| 2030 0.405351 0.407 0.5634 5008 , , NA 16560 0.4583 NA 0.339 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63282 CCDS8335.1, CCDS58170.1 11q21-q22 2008-03-18 ENSG00000152402 ENSG00000152402 2977 4.6.1.2 4684 protein-coding gene gene with protein product 601244 GUC1A2 NA 1683630 Standard NM_000855 NA Approved GC-SA2 uc001pjg.2 P33402 OTTHUMG00000166296 ENST00000347596.2:c.1270-15372G>A chr11.hg19:g.106696576C>T NA A1L4C4|B7ZLT5 hg19 0.02 10.036383 ATTxGAC COVERED NOVEL GUCY1A2-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000389005.1 1 15.948875 KEEP 0 0 0 53 1771 CC 1 1 0 - 8 60 291 0 0 16.955571 288 60 10529 430 ENST00000347596.2 0.027027 1 ELMOD1 55531 __UNKNOWN__ __UNKNOWN__ 11 107506508 107506508 __UNKNOWN__ Intron SNP A A G rs79251702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:107506508A>G ENST00000531234.1 + 7 960 ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000443271.2_Intron Q8N336 ELMD1_HUMAN ELMO/CED-12 domain containing 1 NA NA phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547) cytoskeleton (GO:0005856) GTPase activator activity (GO:0005096) endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) GCTTGAACACATTTCGGTTCT 0.468 NA A||| 15 0.00299521 0.0008 0.0 5008 , , NA 19581 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A , 2,3850 0,2,1924 79 76 77 , -6.6 0 11 dbSNP_133 77 0,8292 0,0,4146 no intron,intron ELMOD1 NM_001130037.1,NM_018712.3 , 0,2,6070 GG,GA,AA 0.0,0.0519,0.0165 , , 107506508 2,12142 1926 4146 6072 SO:0001627 intron_variant AL359601 CCDS44723.1, CCDS44724.1 11q23.1 2012-10-15 2006-01-20 ENSG00000110675 ENSG00000110675 55531 25334 protein-coding gene gene with protein product 615456 ELMO domain containing 1 NA 12477932 Standard NM_018712 NM_018712 NA Approved DKFZp547C176 uc010rvs.2 Q8N336 OTTHUMG00000166361 ENST00000531234.1:c.402+17A>G chr11.hg19:g.107506508A>G NA B4E167|G5E9S5|Q9NPW3 hg19 0.02 13.599205 CACxTTT COVERED NOVEL ELMOD1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389405.1 0 10.532006 KEEP 0 0 0 35 1101 AA 0.999999 0.999999 0 + 12 60 434 0 0 27.072352 299 60 11014 407 ENST00000531234.1 0.038585 1 CUL5 8065 __UNKNOWN__ __UNKNOWN__ 11 107948858 107948858 __UNKNOWN__ Intron SNP T T A rs10890807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:107948858T>A ENST00000393094.2 + 11 1729 NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 NA NA calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032) Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625) endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) tttatctgtatattttcaata 0.249 NA T||| 1850 0.369409 0.0582 0.5461 5008 , , NA 12000 0.4206 NA 0.4334 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 T 408,3460 34,340,1560 11 12 11 4.3 0 11 dbSNP_120 11 3284,4822 701,1882,1470 no intron CUL5 NM_003478.3 735,2222,3030 AA,AT,TT 40.5132,10.5481,30.8335 107948858 3692,8282 1934 4053 5987 SO:0001627 intron_variant X81882 CCDS31668.1 11q22.3 2011-05-24 ENSG00000166266 ENSG00000166266 8065 2556 protein-coding gene gene with protein product 601741 NA 8681378, 9037604 Standard XM_005271682 NA Approved VACM-1 uc001pjv.3 Q93034 OTTHUMG00000166369 ENST00000393094.2:c.1114-45T>A chr11.hg19:g.107948858T>A NA A8K960|O14766|Q9BZC6 hg19 CCDS31668.1 0.02 -0.263197 GTAxATT COVERED NOVEL CUL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389429.1 0 2.686859 KEEP 0 0 0 9 246 TT 0.99254 0.688494 0 + 3 60 117 0 0 8.896431 27 60 990 43 ENST00000393094.2 0.1 0.693668 ACAT1 38 __UNKNOWN__ __UNKNOWN__ 11 108013093 108013093 __UNKNOWN__ Intron SNP A A G rs10890818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:108013093A>G ENST00000265838.4 + 9 917 NM_000019.3 NP_000010.1 P24752 THIL_HUMAN acetyl-CoA acetyltransferase 1 NA NA adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2) 10 all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192) Sulfasalazine(DB00795) ggcaataggtatttgttgaat 0.388 NA A||| 955 0.190695 0.0151 0.3329 5008 , , NA 20493 0.2718 NA 0.1849 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D90228 CCDS8339.1 11q22.3 2010-04-30 2010-04-30 ENSG00000075239 ENSG00000075239 38 2.3.1.9 93 protein-coding gene gene with protein product acetoacetyl Coenzyme A thiolase 607809 acetyl-Coenzyme A acetyltransferase 1 ACAT NA 1979337 Standard NM_000019 NM_000019 NA Approved THIL uc001pjy.3 P24752 OTTHUMG00000166381 ENST00000265838.4:c.827-71A>G chr11.hg19:g.108013093A>G NA B2R6H1|G3XAB4|Q96FG8 hg19 CCDS8339.1 0.02 8.624427 GGTxTTT COVERED NOVEL ACAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389474.1 1 12.031844 KEEP 0 0 0 40 1183 AA 1 1 0 + 7 60 257 0 0 15.579041 213 60 7111 296 ENST00000265838.4 0.031818 1 ATM 472 __UNKNOWN__ __UNKNOWN__ 11 108129657 108129657 __UNKNOWN__ Intron SNP A A G rs672655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:108129657A>G ENST00000452508.2 + 17 2565 ATM_ENST00000278616.4_Intron Q13315 ATM_HUMAN ATM serine/threonine kinase NA NA brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723) cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) Caffeine(DB00201) ACTGTCTGCCAAGAATAATTG 0.323 NA D, Mis, N, F, S T-PLL leukemia, lymphoma, medulloblastoma, glioma Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) A||| 2386 0.476438 0.2163 0.6398 5008 , , NA 18023 0.4196 NA 0.6173 False NA ,,, NA NA NA 2504 0.6258 NA NA NA yes Rec yes Ataxia-telangiectasia 11 11q22.3 472 ataxia telangiectasia mutated L, O 0 A 400,984 65,270,357 89 71 77 3.7 0.6 11 dbSNP_83 77 1787,1393 513,761,316 no intron ATM NM_000051.3 578,1031,673 GG,GA,AA 43.805,28.9017,47.9185 108129657 2187,2377 692 1590 2282 SO:0001627 intron_variant Familial Cancer Database AT, Louis-Bar syndrome AB209133 CCDS31669.1 11q22-q23 2014-09-17 2014-06-17 ENSG00000149311 ENSG00000149311 472 795 protein-coding gene gene with protein product TEL1, telomere maintenance 1, homolog (S. cerevisiae) 607585 ataxia telangiectasia mutated (includes complementation groups A, C and D), ataxia telangiectasia mutated ATA, ATDC, ATC, ATD NA Standard NM_000051 XM_005271561 NA Approved TEL1, TELO1 uc001pkb.1 Q13315 OTTHUMG00000166480 ENST00000452508.2:c.2377-56A>G chr11.hg19:g.108129657A>G NA B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7 hg19 CCDS31669.1 0.02 2.34196 GCCxAGA COVERED NOVEL ATM-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389938.1 0 5.115638 KEEP 0 0 0 17 536 AA 0.999366 0.998989 0 + 6 60 222 0 0 15.648088 79 60 2933 123 ENST00000452508.2 0.070588 0.999622 ZC3H12C 85463 __UNKNOWN__ __UNKNOWN__ 11 109964257 109964257 __UNKNOWN__ Intron SNP A A G rs7116683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:109964257A>G ENST00000278590.3 + 1 72 NM_033390.1 NP_203748.1 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C NA NA endonuclease activity (GO:0004519)|metal ion binding (GO:0046872) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) cccgggcgccaggcggagggc 0.771 NA G||| 3643 0.727436 0.7451 0.7493 5008 , , NA 6349 0.9038 NA 0.6958 False NA ,,, NA NA NA 2504 0.5389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS44727.1 11q22.3 2012-07-05 ENSG00000149289 ENSG00000149289 85463 Zinc fingers, CCCH-type domain containing 29362 protein-coding gene gene with protein product MCP induced protein 3 615001 NA 11214970, 18178554 Standard NM_033390 NM_033390 NA Approved KIAA1726, MCPIP3 uc009yxw.3 Q9C0D7 OTTHUMG00000166572 ENST00000278590.3:c.21+99A>G chr11.hg19:g.109964257A>G NA B4DI65|B4DR47 hg19 CCDS44727.1 0.02 -0.191642 GCCxGGC COVERED NOVEL ZC3H12C-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000390491.1 0 14.441182 KEEP 0 0 0 48 1446 AA 1 0.457757 0 + 3 60 102 0 0 7.836935 19 60 662 99 ENST00000278590.3 0.136364 0.457757 ZC3H12C 85463 __UNKNOWN__ __UNKNOWN__ 11 110006850 110006850 __UNKNOWN__ Intron SNP G G C rs614560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:110006850G>C ENST00000528673.1 + 2 103 ZC3H12C_ENST00000453089.2_5'UTR|ZC3H12C_ENST00000278590.3_Intron Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C NA NA endonuclease activity (GO:0004519)|metal ion binding (GO:0046872) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) TTAGATTGCTGTTAAGCTTCA 0.259 NA g||| 2449 0.489018 0.4092 0.5836 5008 , , NA 17388 0.6925 NA 0.4414 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS44727.1 11q22.3 2012-07-05 ENSG00000149289 ENSG00000149289 85463 Zinc fingers, CCCH-type domain containing 29362 protein-coding gene gene with protein product MCP induced protein 3 615001 NA 11214970, 18178554 Standard NM_033390 NM_033390 NA Approved KIAA1726, MCPIP3 uc009yxw.3 Q9C0D7 OTTHUMG00000166572 ENST00000528673.1:c.25-538G>C chr11.hg19:g.110006850G>C NA B4DI65|B4DR47 hg19 0.02 4.865921 GCTxTTA COVERED NOVEL ZC3H12C-003 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000390492.1 1 3.547713 KEEP 0 1 35 24 861 GG 0.999931 0.999928 0 + 8 60 311 0 0 22.307413 107 60 4035 173 ENST00000528673.1 0.069565 0.999997 ARHGAP20 57569 __UNKNOWN__ __UNKNOWN__ 11 110448340 110448340 __UNKNOWN__ Intron SNP T T G rs3741337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:110448340T>G ENST00000529591.1 - 6 2513 ARHGAP20_ENST00000533353.1_3'UTR|ARHGAP20_ENST00000260283.4_3'UTR|ARHGAP20_ENST00000527598.1_3'UTR|ARHGAP20_ENST00000524756.1_3'UTR|ARHGAP20_ENST00000357139.3_3'UTR|ARHGAP20_ENST00000528829.1_3'UTR Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CCAAAAAAGATGCATATGGAC 0.408 NA T||| 2065 0.41234 0.1725 0.4611 5008 , , NA 17940 0.4563 NA 0.5586 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037812 CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1 11q23.2 2011-06-29 ENSG00000137727 ENSG00000137727 57569 Rho GTPase activating proteins 18357 protein-coding gene gene with protein product 609568 NA 14532992 Standard NM_020809 NM_020809 NA Approved KIAA1391 uc001pkz.2 Q9P2F6 OTTHUMG00000166590 ENST00000529591.1:c.2184-464A>C chr11.hg19:g.110448340T>G NA A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1 hg19 0.02 4.726031 AGAxGCA COVERED NOVEL ARHGAP20-006 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000390629.2 1 3.911708 KEEP 0 0 0 13 411 TT 0.994391 0.99439 0 - 5 60 200 0 0 13.167533 126 60 4590 162 ENST00000529591.1 0.038168 1 POU2AF1 5450 __UNKNOWN__ __UNKNOWN__ 11 111230529 111230529 __UNKNOWN__ Intron SNP A A G rs4938496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111230529A>G ENST00000393067.3 - 2 531 NM_006235.2 NP_006226.2 Q16633 OBF1_HUMAN POU class 2 associating factor 1 NA NA humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712) breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TCCCAGTGGCATGCCCATGCG 0.388 NA T BCL6 NHL A||| 1468 0.293131 0.0953 0.1859 5008 , , NA 22526 0.3938 NA 0.2913 False NA ,,, NA NA NA 2504 0.5348 NA NA NA Dom yes 11 11q23.1 5450 POU domain, class 2, associating factor 1 (OBF1) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31675.1 11q23.1 2011-06-01 2007-07-13 ENSG00000110777 5450 9211 protein-coding gene gene with protein product 601206 POU domain class 2, associating factor 1 NA 8617501 Standard NM_006235 NM_006235 NA Approved OBF1 uc001plg.4 Q16633 ENST00000393067.3:c.17-886T>C chr11.hg19:g.111230529A>G NA B2R8Z9|Q14983 hg19 CCDS31675.1 0.02 1.710669 GGCxTGC COVERED NOVEL POU2AF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391002.1 0 3.008828 KEEP 0 0 0 10 313 AA 0.992708 0.99267 0 - 9 60 303 0 0 21.459614 91 60 3356 119 ENST00000393067.3 0.09 0.999962 RP11-794P6.2 0 __UNKNOWN__ __UNKNOWN__ 11 111324146 111324146 __UNKNOWN__ Missense_Mutation SNP A A C rs61896867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111324146A>C ENST00000528953.1 + 2 84 c.16A>C c.(16-18)Agc>Cgc p.S6R NA NA NA GCAGTGTCACAGCCTGAGCTG 0.552 NA A||| 667 0.133187 0.0582 0.17 5008 , , NA 19871 0.1627 NA 0.1223 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000528953.1:c.16A>C chr11.hg19:g.111324146A>C ENSP00000434140:p.Ser6Arg NA hg19 0.02 9.466203 CACxGCC COVERED 287 0.13141025641025642 36 0.07317073170731707 53 0.1464088397790055 103 0.18006993006993008 95 0.12532981530343007 A 7.348 0.622216 0.14193 . . ENSG00000255093 ENST00000528953 . . . 4.64 -9.27 0.00659 . . . . . T 0.00039 0.0001 . . . 0.80722 P 0.0 B 0.11235 0.004 B 0.09377 0.004 T 0.13953 -1.0490 6 0.20519 T 0.43 . 10.067 0.42311 0.1505:0.5327:0.3168:0.0 rs61896867 6 E9PRU8 . R 6 . ENSP00000434140:S6R S + 1 0 RP11-794P6.2 110829356 0.001000 0.12720 0.036000 0.18154 0.055000 0.15305 -1.215000 0.02985 -2.258000 0.00694 -0.464000 0.05259 AGC NOVEL RP11-794P6.2-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000391175.1 0 8.726914 KEEP 1 0 0 29 929 AA 0.999997 0.999997 0 + 9 60 311 0 0 18.256936 262 60 9737 363 ENST00000528953.1 0.03321 1 PPP2R1B 5519 __UNKNOWN__ __UNKNOWN__ 11 111635655 111635655 __UNKNOWN__ Intron SNP T T C rs7106104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111635655T>C ENST00000341980.6 - 3 212 PPP2R1B_ENST00000527614.1_Intron|PPP2R1B_ENST00000393055.2_Intron|PPP2R1B_ENST00000427203.2_Intron|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000311129.5_Intron P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta NA NA apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) ACAGGACTCATCAACATGGAT 0.453 NA T||| 1076 0.214856 0.1815 0.2349 5008 , , NA 20164 0.1548 NA 0.327 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 T ,,,, 854,3548 331.8+/-302.1 86,682,1433 57 50 52 ,,,, 3 0.3 11 dbSNP_116 52 2537,6057 410.4+/-350.2 395,1747,2155 no intron,intron,intron,intron,intron PPP2R1B NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1 ,,,, 481,2429,3588 CC,CT,TT 29.5206,19.4003,26.0926 ,,,, ,,,, 111635655 3391,9605 2201 4297 6498 SO:0001627 intron_variant AF087438 CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1 11q23.1 2010-06-18 2010-04-14 ENSG00000137713 ENSG00000137713 5519 3.1.3.16 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9303 protein-coding gene gene with protein product PP2A-A-beta, protein phosphatase 2A, regulatory subunit A, beta isoform 603113 protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform NA 2159327, 9795170 Standard NM_002716 NM_181699 NA Approved PR65B, PP2A-Abeta uc001plw.1 P30154 OTTHUMG00000166741 ENST00000341980.6:c.206-26A>G chr11.hg19:g.111635655T>C NA A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8 hg19 CCDS53708.1 0.02 1.719453 TCAxCAA COVERED NOVEL PPP2R1B-005 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000391300.1 2 9.928702 KEEP 0 0 0 33 1031 TT 0.999998 0.99996 0 - 4 60 141 0 0 8.737168 95 60 3426 137 ENST00000341980.6 0.040404 0.999962 ALG9 79796 __UNKNOWN__ __UNKNOWN__ 11 111739265 111739265 __UNKNOWN__ Intron SNP C C T rs187745840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111739265C>T ENST00000524880.1 - 7 1398 ALG9_ENST00000398006.2_Intron|ALG9_ENST00000527228.1_Intron|ALG9_ENST00000531154.1_Intron Q9H6U8 ALG9_HUMAN ALG9, alpha-1,2-mannosyltransferase NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) TTTCTCAAAACTATACCAGAG 0.358 NA C||| 6 0.00119808 0.0 0.0 5008 , , NA 21339 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1 11q23 2013-02-26 2013-02-26 2004-08-26 ENSG00000086848 ENSG00000086848 79796 2.4.1.259, 2.4.1.261 Dolichyl D-mannosyl phosphate dependent mannosyltransferases 15672 protein-coding gene gene with protein product dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase, dol-P-Man dependent alpha-1,2-mannosyltransferase 606941 disrupted in bipolar affective disorder 1, asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase), asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase), asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) DIBD1 NA 12030331, 15148656 Standard NM_024740 NM_024740 NA Approved uc021qql.1 Q9H6U8 OTTHUMG00000166819 ENST00000524880.1:c.867+59G>A chr11.hg19:g.111739265C>T NA Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068 hg19 0.02 8.029602 AAAxTAT COVERED NOVEL ALG9-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000413376.1 2 18.360468 KEEP 0 0 0 61 2212 CC 1 1 0 - 8 60 294 0 0 17.962427 234 60 8881 369 ENST00000524880.1 0.033058 1 C11orf1 64776 __UNKNOWN__ __UNKNOWN__ 11 111750430 111750430 __UNKNOWN__ Intron SNP A A G rs7107213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111750430A>G ENST00000530214.1 + 1 64 C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000260276.3_Intron Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 NA NA nucleus (GO:0005634) kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) ggatgaacaaaatgtggccta 0.473 NA g||| 1225 0.244609 0.1982 0.3228 5008 , , NA 21023 0.1915 NA 0.33 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ250229 CCDS8350.1 11q23.1 2012-05-30 ENSG00000137720 ENSG00000137720 64776 1163 protein-coding gene gene with protein product NA 10873569 Standard NM_022761 NM_022761 NA Approved FLJ23499 uc001pmd.3 Q9H5F2 OTTHUMG00000166884 ENST00000530214.1:c.45+101A>G chr11.hg19:g.111750430A>G NA Q6I9X7|Q9NQC6 hg19 0.02 2.089099 CAAxATG COVERED NOVEL C11orf1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000391651.1 3 15.041021 KEEP 0 0 0 50 1486 AA 1 0.999862 0 + 6 60 234 0 0 16.66102 85 60 3076 166 ENST00000530214.1 0.065934 0.999862 C11orf1 64776 __UNKNOWN__ __UNKNOWN__ 11 111754574 111754574 __UNKNOWN__ Missense_Mutation SNP A A C rs1045282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111754574A>C ENST00000530214.1 + 3 375 c.356A>C c.(355-357)cAa>cCa p.Q119P C11orf1_ENST00000528125.1_Silent_p.S95S|C11orf1_ENST00000260276.3_Silent_p.S141S|C11orf1_ENST00000529270.1_Silent_p.S181S Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 0 NA nucleus (GO:0005634) kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) CAGAAAAGTCAACTTACATGA 0.398 NA A||| 1200 0.239617 0.1952 0.3069 5008 , , NA 18184 0.1905 NA 0.3231 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 A 963,3439 363.1+/-316.4 106,751,1344 114 108 110 423 4.2 1 11 dbSNP_86 110 2579,6015 419.8+/-353.2 394,1791,2112 no coding-synonymous C11orf1 NM_022761.2 500,2542,3456 CC,CA,AA 30.0093,21.8764,27.2545 141/151 111754574 3542,9454 2201 4297 6498 SO:0001583 missense AJ250229 CCDS8350.1 11q23.1 2012-05-30 ENSG00000137720 ENSG00000137720 64776 1163 protein-coding gene gene with protein product NA 10873569 Standard NM_022761 NM_022761 NA Approved FLJ23499 uc001pmd.3 Q9H5F2 OTTHUMG00000166884 ENST00000530214.1:c.356A>C chr11.hg19:g.111754574A>C ENSP00000435864:p.Gln119Pro NA Q6I9X7|Q9NQC6 hg19 0.02 27.808405 GTCxACT COVERED 583 0.26694139194139194 114 0.23170731707317074 126 0.34806629834254144 101 0.17657342657342656 242 0.31926121372031663 A 10.58 1.389114 0.25118 0.218764 0.300093 ENSG00000137720 ENST00000530214 T 0.25085 1.82 5.37 4.22 0.49857 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999999994803 . . . . . . T 0.43196 -0.9406 5 0.62326 D 0.03 -22.8715 5.7886 0.18347 0.5843:0.3324:0.0833:0.0 rs1045282;rs3168261;rs17489575;rs59543330;rs1045282 . . . P 119 ENSP00000435864:Q119P ENSP00000435864:Q119P Q + 2 0 C11orf1 111259784 0.960000 0.32886 0.982000 0.44146 0.994000 0.84299 1.708000 0.37899 1.017000 0.39495 0.528000 0.53228 CAA NOVEL C11orf1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000391651.1 5 38.504131 KEEP 0 0 0 128 3839 AA 1 1 0 + 19 60 715 0 0 43.548714 613 60 22523 944 ENST00000530214.1 0.030063 1 C11orf1 64776 __UNKNOWN__ __UNKNOWN__ 11 111755217 111755217 __UNKNOWN__ 3'UTR SNP G G A rs201392897 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111755217G>A ENST00000260276.3 + 0 1403 NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 NA NA nucleus (GO:0005634) kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) aaaaaaaaaagaaTTATTTCT 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ250229 CCDS8350.1 11q23.1 2012-05-30 ENSG00000137720 ENSG00000137720 64776 1163 protein-coding gene gene with protein product NA 10873569 Standard NM_022761 NM_022761 NA Approved FLJ23499 uc001pmd.3 Q9H5F2 OTTHUMG00000166884 ENST00000260276.3:c.*613G>A chr11.hg19:g.111755217G>A NA Q6I9X7|Q9NQC6 hg19 CCDS8350.1 0.02 -0.23301 AAAxAAT COVERED NOVEL C11orf1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391650.1 3 2.398079 KEEP 0 0 0 8 246 GG 0.99257 0.607857 0 + 7 60 105 1 0 7.248582 19 60 576 58 ENST00000260276.3 0.269231 0.612407 CRYAB 1410 __UNKNOWN__ __UNKNOWN__ 11 111780837 111780837 __UNKNOWN__ Intron SNP G G A rs2070894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111780837G>A ENST00000533280.1 - 2 197 CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533971.1_3'UTR P02511 CRYAB_HUMAN crystallin, alpha B NA NA aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021) actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082) endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) CATCTAAGGCGATCAAATCAA 0.428 NA G||| 1193 0.238219 0.1899 0.3069 5008 , , NA 20832 0.1905 NA 0.3231 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8351.1 11q22.3-q23.1 2014-09-17 ENSG00000109846 1410 Heat shock proteins / HSPB 2389 protein-coding gene gene with protein product 123590 CRYA2 NA 8431633 Standard NM_001885 NA Approved HSPB5 uc001pmf.1 P02511 ENST00000533280.1:c.123+213C>T chr11.hg19:g.111780837G>A NA B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41 hg19 0.02 11.894766 GGCxATC COVERED NOVEL CRYAB-011 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000391656.1 2 24.979268 KEEP 0 0 0 83 2819 GG 1 1 0 - 12 60 432 0 0 26.299566 334 60 11458 511 ENST00000533280.1 0.034682 1 CRYAB 1410 __UNKNOWN__ __UNKNOWN__ 11 111781047 111781047 __UNKNOWN__ Intron SNP A A C rs11603779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111781047A>C ENST00000533280.1 - 2 197 CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533971.1_Missense_Mutation_p.C110G P02511 CRYAB_HUMAN crystallin, alpha B NA NA aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021) actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082) endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) AACAAGCTACATACCTGGCGC 0.453 NA A||| 1201 0.239816 0.1952 0.3069 5008 , , NA 22006 0.1905 NA 0.3231 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 A 962,3440 363.4+/-316.5 105,752,1344 149 111 124 -6.7 0 11 dbSNP_120 124 2578,6016 420.1+/-353.3 393,1792,2112 no intron CRYAB NM_001885.1 498,2544,3456 CC,CA,AA 29.9977,21.8537,27.2392 111781047 3540,9456 2201 4297 6498 SO:0001627 intron_variant CCDS8351.1 11q22.3-q23.1 2014-09-17 ENSG00000109846 1410 Heat shock proteins / HSPB 2389 protein-coding gene gene with protein product 123590 CRYA2 NA 8431633 Standard NM_001885 NA Approved HSPB5 uc001pmf.1 P02511 ENST00000533280.1:c.123+3T>G chr11.hg19:g.111781047A>C NA B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41 hg19 0.02 17.804254 TACxTAC COVERED 583 0.26694139194139194 114 0.23170731707317074 126 0.34806629834254144 101 0.17657342657342656 242 0.31926121372031663 A 3.779 -0.045988 0.07452 0.218537 0.299977 ENSG00000109846 ENST00000533971 D 0.90504 -2.68 5.97 -6.74 0.01743 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.19516 -1.0303 7 0.59425 D 0.04 . 2.7093 0.05170 0.2226:0.102:0.3855:0.2899 rs11603779;rs11603779 110 E9PRA8 . G 110 ENSP00000434269:C110G ENSP00000434269:C110G C - 1 0 CRYAB 111286257 . . 0.001000 0.08648 0.009000 0.06853 . . -1.113000 0.02981 -0.912000 0.02778 TGT NOVEL CRYAB-011 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000391656.1 3 37.610822 KEEP 0 0 0 125 3860 AA 1 1 0 - 17 60 624 0 0 39.388335 416 60 15203 666 ENST00000533280.1 0.039261 1 CRYAB 1410 __UNKNOWN__ __UNKNOWN__ 11 111782697 111782697 __UNKNOWN__ 5'UTR SNP G G C rs14133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:111782697G>C ENST00000526180.1 - 0 41 CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000227251.3_5'UTR NM_001885.1 NP_001876.1 P02511 CRYAB_HUMAN crystallin, alpha B NA NA aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021) actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082) endometrium(1)|large_intestine(1)|lung(2)|skin(4) 8 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051) GACTTGTCATGGTCTTGTTTC 0.527 NA G||| 1190 0.23762 0.1884 0.3069 5008 , , NA 19000 0.1905 NA 0.3231 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 GRCh37 CR076690 CRYAB R rs14133 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS8351.1 11q22.3-q23.1 2014-09-17 ENSG00000109846 1410 Heat shock proteins / HSPB 2389 protein-coding gene gene with protein product 123590 CRYA2 NA 8431633 Standard NM_001885 NA Approved HSPB5 uc001pmf.1 P02511 ENST00000526180.1:c.-249C>G chr11.hg19:g.111782697G>C NA B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41 hg19 CCDS8351.1 0.02 3.828073 CATxGTC COVERED NOVEL CRYAB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000391654.1 4 20.465668 KEEP 0 0 0 68 2347 GG 1 1 0 - 7 60 214 0 0 12.963105 124 60 4570 239 ENST00000526180.1 0.053435 1 NCAM1 4684 __UNKNOWN__ __UNKNOWN__ 11 113105907 113105907 __UNKNOWN__ Intron SNP C C A rs646558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113105907C>A ENST00000533760.1 + 13 2040 NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000401611.2_Intron NM_001242608.1 NP_001229537.1 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) identical protein binding (GO:0042802) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCAGCTGCCCCCCTTTTCCCA 0.602 NA A||| 1459 0.291334 0.5408 0.2622 5008 , , NA 17826 0.249 NA 0.2008 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 A ,,,, 1869,2087 445,979,554 30 35 33 ,,,, 0.2 0 11 dbSNP_83 33 1673,6583 171,1331,2626 no intron,intron,intron,intron,intron NCAM1 NM_000615.6,NM_001076682.3,NM_001242607.1,NM_001242608.1,NM_181351.4 ,,,, 616,2310,3180 AA,AC,CC 20.2641,47.2447,29.0043 ,,,, ,,,, 113105907 3542,8670 1978 4128 6106 SO:0001627 intron_variant CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1 11q23.2 2013-02-11 ENSG00000149294 ENSG00000149294 4684 CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7656 protein-coding gene gene with protein product 116930 NA Standard NM_000615 NM_000615 NA Approved NCAM, CD56 uc021qqp.1 P13591 OTTHUMG00000167196 ENST00000533760.1:c.1441+21C>A chr11.hg19:g.113105907C>A NA A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3 hg19 0.02 10.213941 CCCxCCT COVERED NOVEL NCAM1-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000394068.2 0 18.057818 KEEP 0 0 0 60 2099 CC 1 1 0 + 12 60 412 0 0 25.300041 276 60 10191 408 ENST00000533760.1 0.041667 1 TTC12 54970 __UNKNOWN__ __UNKNOWN__ 11 113236975 113236975 __UNKNOWN__ Missense_Mutation SNP G G A rs138333675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113236975G>A ENST00000529221.1 + 22 2176 c.2071G>A c.(2071-2073)Ggc>Agc p.G691S TTC12_ENST00000483239.2_Missense_Mutation_p.G697S|TTC12_ENST00000314756.3_Intron|TTC12_ENST00000393020.1_Intron NM_017868.3 NP_060338.3 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 691 NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) AAAGCTTCATGGCCTAGAAAT 0.468 NA G||| 17 0.00339457 0.0 0.0 5008 , , NA 22404 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G SER/GLY 1,4401 0,1,2200 178 157 164 2071 5.3 0.4 11 dbSNP_134 164 0,8592 0,0,4296 yes missense TTC12 NM_017868.3 56 0,1,6496 AA,AG,GG 0.0,0.0227,0.0077 probably-damaging 691/706 113236975 1,12993 2201 4296 6497 SO:0001583 missense AK000542 CCDS8360.2 11q23.2 2013-01-10 ENSG00000149292 ENSG00000149292 54970 Tetratricopeptide (TTC) repeat domain containing 23700 protein-coding gene gene with protein product 610732 NA 12964006 Standard NM_017868 XM_005271607 NA Approved FLJ13859, FLJ20535, TPARM uc001pnu.3 Q9H892 OTTHUMG00000142832 ENST00000529221.1:c.2071G>A chr11.hg19:g.113236975G>A ENSP00000433757:p.Gly691Ser NA Q8N5H9|Q9NWY3 hg19 CCDS8360.2 0.02 30.174995 CATxGCC COVERED 7 0.003205128205128205 0 0.0 0 0.0 7 0.012237762237762238 0 0.0 G 22.7 4.319026 0.81469 2.27E-4 0.0 ENSG00000149292 ENST00000529221;ENST00000483239 T;T 0.53640 0.61;0.61 5.28 5.28 0.74379 Armadillo-like helical (1);Armadillo-type fold (1); . . . . T 0.64681 0.2620 M 0.80183 2.485 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 T 0.73582 -0.3937 9 0.87932 D 0 . 17.4837 0.87682 0.0:0.0:1.0:0.0 . 691;691 A8K8G6;Q9H892 .;TTC12_HUMAN S 691;697 ENSP00000433757:G691S;ENSP00000419652:G697S ENSP00000419652:G697S G + 1 0 TTC12 112742185 1.000000 0.71417 0.399000 0.26333 0.509000 0.34042 6.912000 0.75753 2.470000 0.83445 0.655000 0.94253 GGC NOVEL TTC12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286455.2 7 19.259157 KEEP 0 0 0 64 2248 GG 1 1 0 + 26 60 958 0 0 59.392677 710 60 26863 949 ENST00000529221.1 0.035326 1 ANKK1 255239 __UNKNOWN__ __UNKNOWN__ 11 113265999 113265999 __UNKNOWN__ Intron SNP G G A rs11214597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113265999G>A ENST00000303941.3 + 4 726 NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 NA NA ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GTGAACTGTAGCCCCCCGACC 0.592 NA G||| 492 0.0982428 0.0015 0.0879 5008 , , NA 16368 0.376 NA 0.0268 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ541797 CCDS44734.1 11q23.2 2013-01-10 ENSG00000170209 ENSG00000170209 255239 Ankyrin repeat domain containing 21027 protein-coding gene gene with protein product 608774 NA 15146457 Standard NM_178510 NM_178510 NA Approved X-kinase uc001pny.3 Q8NFD2 OTTHUMG00000167715 ENST00000303941.3:c.633-82G>A chr11.hg19:g.113265999G>A NA hg19 CCDS44734.1 0.02 9.83612 GTAxCCC COVERED NOVEL ANKK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395830.1 0 8.125382 KEEP 0 0 0 27 968 GG 0.999988 0.999988 0 + 14 60 492 0 0 31.385226 283 60 10571 420 ENST00000303941.3 0.047138 1 TMPRSS5 80975 __UNKNOWN__ __UNKNOWN__ 11 113570208 113570208 __UNKNOWN__ Intron SNP C C T rs73568808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113570208C>T ENST00000536856.1 - 2 85 TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000299882.5_Intron|TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000538955.1_Intron|TMPRSS5_ENST00000545579.1_Intron Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 NA NA proteolysis (GO:0006508) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) cccttgtctgcacagagtagt 0.498 NA c||| 1069 0.213458 0.1135 0.1859 5008 , , NA 18062 0.2619 NA 0.2475 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028140 CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1 11q 2010-04-13 2008-07-31 ENSG00000166682 ENSG00000166682 80975 Serine peptidases / Transmembrane 14908 protein-coding gene gene with protein product spinesin 606751 NA Standard NM_030770 NM_030770 NA Approved MGC141886, MGC148044 uc001poc.4 Q9H3S3 OTTHUMG00000168186 ENST00000536856.1:c.572-459G>A chr11.hg19:g.113570208C>T NA hg19 0.02 4.205521 CTGxACA COVERED NOVEL TMPRSS5-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398650.1 2 6.018992 KEEP 0 0 0 20 688 CC 0.999863 0.999862 0 - 9 60 310 0 0 21.350177 113 60 4217 163 ENST00000536856.1 0.07377 0.999999 TMPRSS5 80975 __UNKNOWN__ __UNKNOWN__ 11 113570852 113570852 __UNKNOWN__ Intron SNP C C T rs3802854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113570852C>T ENST00000536856.1 - 2 85 TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000544634.1_Silent_p.Q14Q|TMPRSS5_ENST00000299882.5_Silent_p.Q14Q|TMPRSS5_ENST00000540540.1_Intron|TMPRSS5_ENST00000538955.1_Intron|TMPRSS5_ENST00000545579.1_5'UTR Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 NA NA proteolysis (GO:0006508) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) CCTCTGCATACTGGGCCTCCA 0.592 NA c||| 1071 0.213858 0.1135 0.1873 5008 , , NA 17684 0.2619 NA 0.2485 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 536,3272 34,468,1402 30 33 32 42 2.9 0.1 11 dbSNP_107 32 1874,6354 203,1468,2443 no coding-synonymous TMPRSS5 NM_030770.2 237,1936,3845 TT,TC,CC 22.7759,14.0756,20.0233 14/458 113570852 2410,9626 1904 4114 6018 SO:0001627 intron_variant AB028140 CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1 11q 2010-04-13 2008-07-31 ENSG00000166682 ENSG00000166682 80975 Serine peptidases / Transmembrane 14908 protein-coding gene gene with protein product spinesin 606751 NA Standard NM_030770 NM_030770 NA Approved MGC141886, MGC148044 uc001poc.4 Q9H3S3 OTTHUMG00000168186 ENST00000536856.1:c.572-1103G>A chr11.hg19:g.113570852C>T NA hg19 0.02 4.032221 ATAxTGG COVERED NOVEL TMPRSS5-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398650.1 0 2.708729 KEEP 0 0 0 9 314 CC 0.99254 0.992539 0 - 6 60 216 0 0 14.143195 113 60 4244 140 ENST00000536856.1 0.05042 0.999998 ZW10 9183 __UNKNOWN__ __UNKNOWN__ 11 113608450 113608450 __UNKNOWN__ Intron SNP G G A rs2279996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113608450G>A ENST00000200135.3 - 14 2029 NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein NA NA ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922) centromeric DNA binding (GO:0019237) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) AGCTATTTACGTGGAAGAAAG 0.383 NA A||| 397 0.0792732 0.0461 0.0476 5008 , , NA 21394 0.1369 NA 0.0905 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 A 263,4139 802.2+/-415.7 10,243,1948 97 91 93 -0.3 0 11 dbSNP_100 93 824,7768 781.4+/-407.6 37,750,3509 no intron ZW10 NM_004724.3 47,993,5457 AA,AG,GG 9.5903,5.9746,8.3654 113608450 1087,11907 2201 4296 6497 SO:0001627 intron_variant U54996 CCDS8363.1 11q23 2013-01-17 2012-12-13 ENSG00000086827 ENSG00000086827 9183 13194 protein-coding gene gene with protein product 603954 ZW10 (Drosophila) homolog, centromere/kinetochore protein, ZW10, kinetochore associated, homolog (Drosophila) NA 9298984 Standard NM_004724 NM_004724 NA Approved KNTC1AP uc001poe.3 O43264 OTTHUMG00000168190 ENST00000200135.3:c.1885-25C>T chr11.hg19:g.113608450G>A NA A1A528 hg19 CCDS8363.1 0.02 7.048119 TACxTGG COVERED NOVEL ZW10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398700.1 1 5.417513 KEEP 0 0 0 18 619 GG 0.999859 0.999859 0 - 14 60 522 0 0 37.380005 170 60 6211 207 ENST00000200135.3 0.076087 1 USP28 57646 __UNKNOWN__ __UNKNOWN__ 11 113669644 113669644 __UNKNOWN__ 3'UTR SNP G G A rs2285392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113669644G>A ENST00000003302.4 - 0 3620 USP28_ENST00000544967.1_3'UTR|USP28_ENST00000260188.5_3'UTR|USP28_ENST00000545540.1_3'UTR NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 NA NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TATGCCTGAAGGATAATTTTA 0.353 NA G||| 466 0.0930511 0.0545 0.0548 5008 , , NA 20038 0.1429 NA 0.1213 False NA ,,, NA NA NA 2504 0.092 NA NA NA Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040948 CCDS31680.1, CCDS73394.1 11q23 2008-04-11 2005-08-08 ENSG00000048028 ENSG00000048028 57646 Ubiquitin-specific peptidases 12625 protein-coding gene gene with protein product 610748 ubiquitin specific protease 28 NA 12838346, 11597335 Standard XM_005271630 NA Approved KIAA1515 uc001poh.3 Q96RU2 OTTHUMG00000168205 ENST00000003302.4:c.*318C>T chr11.hg19:g.113669644G>A NA B0YJC0|B0YJC1|Q9P213 hg19 CCDS31680.1 0.02 4.246063 GAAxGAT COVERED NOVEL USP28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398789.1 2 6.320357 KEEP 0 0 0 21 737 GG 0.999869 0.999856 0 - 6 60 218 0 0 14.652339 100 60 3779 147 ENST00000003302.4 0.056604 0.999987 USP28 57646 __UNKNOWN__ __UNKNOWN__ 11 113675542 113675542 __UNKNOWN__ Intron SNP T T C rs45595543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113675542T>C ENST00000003302.4 - 20 2648 USP28_ENST00000544967.1_Intron|USP28_ENST00000260188.5_Intron|USP28_ENST00000545540.1_Intron NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 NA NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GAGGAGTCCATCTAGCCCAAC 0.448 NA T||| 481 0.0960463 0.0658 0.0548 5008 , , NA 19676 0.1429 NA 0.1213 False NA ,,, NA NA NA 2504 0.092 NA NA NA Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 0 T 343,4059 180.1+/-208.5 14,315,1872 112 101 104 -5.9 0 11 dbSNP_127 104 1013,7579 216.9+/-255.7 55,903,3338 no intron USP28 NM_020886.2 69,1218,5210 CC,CT,TT 11.79,7.7919,10.4356 113675542 1356,11638 2201 4296 6497 SO:0001627 intron_variant AB040948 CCDS31680.1, CCDS73394.1 11q23 2008-04-11 2005-08-08 ENSG00000048028 ENSG00000048028 57646 Ubiquitin-specific peptidases 12625 protein-coding gene gene with protein product 610748 ubiquitin specific protease 28 NA 12838346, 11597335 Standard XM_005271630 NA Approved KIAA1515 uc001poh.3 Q96RU2 OTTHUMG00000168205 ENST00000003302.4:c.2579+47A>G chr11.hg19:g.113675542T>C NA B0YJC0|B0YJC1|Q9P213 hg19 CCDS31680.1 0.02 16.822586 CCAxCTA COVERED NOVEL USP28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398789.1 2 15.64571 KEEP 0 0 0 52 1631 TT 1 1 0 - 24 60 897 0 0 62.427155 351 60 12793 519 ENST00000003302.4 0.064 1 USP28 57646 __UNKNOWN__ __UNKNOWN__ 11 113698002 113698002 __UNKNOWN__ Silent SNP C C T rs17802314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113698002C>T ENST00000003302.4 - 11 1208 c.1140G>A c.(1138-1140)gaG>gaA p.E380E USP28_ENST00000544967.1_Silent_p.E88E|USP28_ENST00000260188.5_Silent_p.E380E|USP28_ENST00000545540.1_Silent_p.E255E|USP28_ENST00000537706.1_Silent_p.E380E NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 380 USP. NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TGTGAATTTTCTCTGGCTGCC 0.388 NA C||| 480 0.0958466 0.0666 0.0548 5008 , , NA 17239 0.1419 NA 0.1203 False NA ,,, NA NA NA 2504 0.092 NA NA NA Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 0 C 338,4064 174.8+/-204.3 14,310,1877 78 79 79 1140 -0.4 1 11 dbSNP_123 79 1011,7581 216.2+/-255.3 55,901,3340 no coding-synonymous USP28 NM_020886.2 69,1211,5217 TT,TC,CC 11.7668,7.6783,10.3817 380/1078 113698002 1349,11645 2201 4296 6497 SO:0001819 synonymous_variant AB040948 CCDS31680.1, CCDS73394.1 11q23 2008-04-11 2005-08-08 ENSG00000048028 ENSG00000048028 57646 Ubiquitin-specific peptidases 12625 protein-coding gene gene with protein product 610748 ubiquitin specific protease 28 NA 12838346, 11597335 Standard XM_005271630 NA Approved KIAA1515 uc001poh.3 Q96RU2 OTTHUMG00000168205 ENST00000003302.4:c.1140G>A chr11.hg19:g.113698002C>T NA B0YJC0|B0YJC1|Q9P213 hg19 CCDS31680.1 0.02 4.483964 TTTxTCT COVERED NOVEL USP28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398789.1 0 7.825436 KEEP 0 0 0 26 917 CC 0.999957 0.999952 0 - 9 60 325 0 0 23.1591 104 60 3969 164 ENST00000003302.4 0.079646 0.999995 USP28 57646 __UNKNOWN__ __UNKNOWN__ 11 113745574 113745574 __UNKNOWN__ Intron SNP C C T rs45587435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113745574C>T ENST00000003302.4 - 1 126 USP28_ENST00000260188.5_Intron|USP28_ENST00000545540.1_Intron|USP28_ENST00000542033.1_Intron|USP28_ENST00000537706.1_Intron NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 NA NA cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TTCTATTCATCACGCAGCTCC 0.438 NA C||| 546 0.109026 0.1089 0.0677 5008 , , NA 16622 0.1419 NA 0.1213 False NA ,,, NA NA NA 2504 0.092 NA NA NA Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040948 CCDS31680.1, CCDS73394.1 11q23 2008-04-11 2005-08-08 ENSG00000048028 ENSG00000048028 57646 Ubiquitin-specific peptidases 12625 protein-coding gene gene with protein product 610748 ubiquitin specific protease 28 NA 12838346, 11597335 Standard XM_005271630 NA Approved KIAA1515 uc001poh.3 Q96RU2 OTTHUMG00000168205 ENST00000003302.4:c.57+592G>A chr11.hg19:g.113745574C>T NA B0YJC0|B0YJC1|Q9P213 hg19 CCDS31680.1 0.02 3.648626 CATxACG COVERED NOVEL USP28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398789.1 0 11.436573 KEEP 0 0 0 38 1331 CC 1 1 0 - 10 60 321 0 0 21.243828 130 60 4916 204 ENST00000003302.4 0.071429 1 HTR3A 3359 __UNKNOWN__ __UNKNOWN__ 11 113848273 113848273 __UNKNOWN__ Intron SNP A A T rs1985242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113848273A>T ENST00000504030.2 + 2 512 HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Intron|HTR3A_ENST00000299961.5_De_novo_Start_OutOfFrame|HTR3A_ENST00000506841.2_Intron|HTR3A_ENST00000375498.2_Intron P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246) TTTCCTGTCAATGAATGCATA 0.448 NA A||| 2777 0.554513 0.2693 0.5807 5008 , , NA 21093 0.6468 NA 0.6779 False NA ,,, NA NA NA 2504 0.6994 NA NA NA NA 0 A ,, 502,882 93,316,283 153 125 134 ,, -5 0 11 dbSNP_92 134 2137,1045 719,699,173 no intron,utr-5,intron HTR3A NM_000869.5,NM_001161772.2,NM_213621.3 ,, 812,1015,456 TT,TA,AA 32.841,36.2717,42.2032 ,, ,, 113848273 2639,1927 692 1591 2283 SO:0001627 intron_variant D49394 CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1 11q23.1-q23.2 2012-05-22 2012-02-03 3359 5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic 5297 protein-coding gene gene with protein product 182139 5-hydroxytryptamine (serotonin) receptor 3A HTR3 NA 8530095, 12867984 Standard NM_000869 NM_000869 NA Approved 5-HT3R, 5-HT3A uc010rxb.2 P46098 ENST00000504030.2:c.68-220A>T chr11.hg19:g.113848273A>T NA B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9 hg19 0.02 33.676582 TCAxTGA COVERED NOVEL HTR3A-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000360822.2 4 10.266557 KEEP 0 1 34 46 1474 AA 1 1 0 + 21 70 769 0 0 44.357627 814 70 30085 1040 ENST00000504030.2 0.02515 1 HTR3A 3359 __UNKNOWN__ __UNKNOWN__ 11 113860274 113860274 __UNKNOWN__ Missense_Mutation SNP G G A rs183698487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:113860274G>A ENST00000504030.2 + 9 1671 c.1226G>A c.(1225-1227)cGg>cAg p.R409Q HTR3A_ENST00000535865.1_Missense_Mutation_p.R153Q|HTR3A_ENST00000355556.2_Missense_Mutation_p.R447Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R394Q|HTR3A_ENST00000506841.2_Missense_Mutation_p.R441Q|HTR3A_ENST00000375498.2_Missense_Mutation_p.R415Q P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 409 NA R -> Q. {ECO:0000269|PubMed:16487942}. cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249) p.R441Q(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246) CCACCACCTCGGGAGGCCTCG 0.642 NA G||| 25 0.00499201 0.0 0.0 5008 , , NA 15103 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 1 Substitution - Missense(1) skin(1) G GLN/ARG,GLN/ARG,GLN/ARG 6,4396 11.4+/-27.6 0,6,2195 60 68 66 1244,1181,1340 2.4 0.8 11 66 0,8592 0,0,4296 yes missense,missense,missense HTR3A NM_000869.5,NM_001161772.2,NM_213621.3 43,43,43 0,6,6491 AA,AG,GG 0.0,0.1363,0.0462 benign,benign,benign 415/485,394/464,447/517 113860274 6,12988 2201 4296 6497 SO:0001583 missense D49394 CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1 11q23.1-q23.2 2012-05-22 2012-02-03 3359 5-HT (serotonin) receptors, Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic 5297 protein-coding gene gene with protein product 182139 5-hydroxytryptamine (serotonin) receptor 3A HTR3 NA 8530095, 12867984 Standard NM_000869 NM_000869 NA Approved 5-HT3R, 5-HT3A uc010rxb.2 P46098 ENST00000504030.2:c.1226G>A chr11.hg19:g.113860274G>A ENSP00000424189:p.Arg409Gln NA B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9 hg19 0.02 6.521722 CTCxGGA COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 G 7.355 0.623599 0.14193 0.001363 0.0 ENSG00000166736 ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961 T;T;T;T;T;T 0.23552 1.9;1.9;1.9;1.9;1.9;1.9 5.7 2.41 0.29592 . 0.431880 0.24611 N 0.037058 T 0.11623 0.0283 L 0.35542 1.07 0.28335 N 0.921604 B;B;B 0.16603 0.004;0.004;0.018 B;B;B 0.14578 0.007;0.002;0.011 T 0.14090 -1.0485 10 0.25106 T 0.35 -33.1711 7.6463 0.28323 0.2369:0.133:0.6301:0.0 . 394;447;415 B4DSY6;G5E986;Q7KZM7 .;.;. Q 409;447;415;441;153;394 ENSP00000424189:R409Q;ENSP00000347754:R447Q;ENSP00000364648:R415Q;ENSP00000424776:R441Q;ENSP00000437776:R153Q;ENSP00000299961:R394Q ENSP00000299961:R394Q R + 2 0 HTR3A 113365484 0.063000 0.20901 0.847000 0.33407 0.005000 0.04900 2.438000 0.44837 0.785000 0.33685 -0.827000 0.03088 CGG NOVEL HTR3A-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000360822.2 2 7.222906 KEEP 0 0 0 24 819 GG 0.999909 0.999909 0 + 6 60 224 0 0 14.27372 147 60 5017 216 ENST00000504030.2 0.039216 1 ZBTB16 7704 __UNKNOWN__ __UNKNOWN__ 11 114057944 114057944 __UNKNOWN__ Intron SNP A A G rs682155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:114057944A>G ENST00000335953.4 + 4 1833 ZBTB16_ENST00000392996.2_Intron NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 NA NA anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GGCCCAGCAGAAGTTTACAAG 0.493 NA A||| 3190 0.636981 0.8616 0.5331 5008 , , NA 18421 0.5962 NA 0.5885 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z19002 CCDS8367.1 11q23 2013-10-17 2004-07-16 2004-07-16 ENSG00000109906 ENSG00000109906 7704 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 12930 protein-coding gene gene with protein product promyelocytic leukaemia zinc finger 176797 zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia) ZNF145 NA Standard NM_006006 XM_006718899 NA Approved PLZF uc001poq.3 Q05516 OTTHUMG00000168243 ENST00000335953.4:c.1453+184A>G chr11.hg19:g.114057944A>G NA Q8TAL4 hg19 CCDS8367.1 0.02 -0.350921 CAGxAGT COVERED NOVEL ZBTB16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398940.1 1 2.406587 KEEP 0 0 0 8 230 AA 0.99257 0.871187 0 + 4 60 142 0 0 10.462755 36 60 1285 50 ENST00000335953.4 0.1 0.877708 RP11-212D19.4 0 __UNKNOWN__ __UNKNOWN__ 11 114281415 114281415 __UNKNOWN__ Intron SNP C C G rs10502185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:114281415C>G ENST00000544347.1 + 4 431 RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR NA NA NA cactttagttctcatagtaac 0.418 NA C||| 535 0.106829 0.1263 0.1398 5008 , , NA 18796 0.1766 NA 0.0507 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000544347.1:c.431+4894C>G chr11.hg19:g.114281415C>G NA hg19 0.02 16.670204 GTTxTCA COVERED NOVEL RP11-212D19.4-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000399017.2 6 20.76758 KEEP 0 0 0 69 2454 CC 1 1 0 + 14 60 544 0 0 35.033112 367 60 13952 541 ENST00000544347.1 0.036745 1 REXO2 25996 __UNKNOWN__ __UNKNOWN__ 11 114314972 114314972 __UNKNOWN__ Intron SNP C C T rs2271716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:114314972C>T ENST00000539275.1 + 2 276 REXO2_ENST00000265881.5_Intron|REXO2_ENST00000538791.1_5'UTR|REXO2_ENST00000539754.1_Intron Q9Y3B8 ORN_HUMAN RNA exonuclease 2 NA NA nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117) focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676) cervix(1)|endometrium(1)|kidney(1)|lung(1) 4 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494) GATTGCTGCTCTCCTGTTAAT 0.408 NA C||| 1408 0.28115 0.236 0.2464 5008 , , NA 19424 0.4236 NA 0.2306 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151872 CCDS8371.1 11q23.2 2013-06-10 2013-06-10 ENSG00000076043 ENSG00000076043 25996 17851 protein-coding gene gene with protein product 607149 REX2, RNA exonuclease 2 homolog (S. cerevisiae) NA 10851236, 10810093, 23741365 Standard NM_015523 NM_015523 NA Approved DKFZP566E144, SFN, CGI-114 uc001poy.3 Q9Y3B8 OTTHUMG00000168271 ENST00000539275.1:c.231+3511C>T chr11.hg19:g.114314972C>T NA B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7 hg19 0.02 34.432117 GCTxTCC COVERED NOVEL REXO2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399092.1 4 37.426839 KEEP 0 3 99 159 5656 CC 1 1 0 + 27 60 963 0 0 57.767408 790 60 30129 1146 ENST00000539275.1 0.033048 1 NXPE1 120400 __UNKNOWN__ __UNKNOWN__ 11 114401577 114401577 __UNKNOWN__ 5'UTR SNP T T C rs524911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:114401577T>C ENST00000251921.2 - 0 143 NXPE1_ENST00000424269.1_Silent_p.A51A|NXPE1_ENST00000536312.1_Silent_p.A51A NM_152315.2 NP_689528.2 Q8N323 NXPE1_HUMAN neurexophilin and PC-esterase domain family, member 1 NA NA extracellular region (GO:0005576) NA ATAAGGACTTTGCGGAGTTGT 0.373 NA T||| 2028 0.404952 0.3744 0.3141 5008 , , NA 16962 0.6687 NA 0.336 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC029049 CCDS8372.1 11q23.2 2012-06-14 2012-06-11 2012-06-11 ENSG00000095110 ENSG00000095110 120400 28527 protein-coding gene gene with protein product family with sequence similarity 55, member A FAM55A NA 12477932 Standard NM_152315 NM_152315 NA Approved MGC34290 uc001ppa.3 Q8N323 OTTHUMG00000168284 ENST00000251921.2:c.-274A>G chr11.hg19:g.114401577T>C NA B0YJ13 hg19 CCDS8372.1 0.02 33.923737 CTTxGCG COVERED NOVEL NXPE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399160.1 3 13.7095 KEEP 0 2 67 69 2194 TT 1 1 0 - 23 60 808 0 0 45.87299 830 60 30632 1091 ENST00000251921.2 0.026964 1 BUD13 84811 __UNKNOWN__ __UNKNOWN__ 11 116629905 116629905 __UNKNOWN__ Intron SNP G G A rs17519093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116629905G>A ENST00000375445.3 - 6 875 BUD13_ENST00000260210.4_Intron NM_001159736.1 NP_001153208.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) NA NA mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398) nucleus (GO:0005634)|RES complex (GO:0070274) poly(A) RNA binding (GO:0044822) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CCTATGCAACGGAAAAGGGAG 0.438 NA G||| 248 0.0495208 0.0015 0.1066 5008 , , NA 18556 0.0685 NA 0.0596 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 G , 51,4351 51.6+/-87.1 0,51,2150 156 136 143 , 1.5 0.1 11 dbSNP_123 143 475,8117 140.1+/-196.7 16,443,3837 no intron,intron BUD13 NM_001159736.1,NM_032725.3 , 16,494,5987 AA,AG,GG 5.5284,1.1586,4.048 , , 116629905 526,12468 2201 4296 6497 SO:0001627 intron_variant BC006350 CCDS8374.1, CCDS53712.1 11q23.3 2012-06-07 2007-01-12 ENSG00000137656 ENSG00000137656 84811 28199 protein-coding gene gene with protein product functional spliceosome-associated protein 71 BUD13 homolog (yeast) NA 12477932 Standard NM_032725 NM_032725 NA Approved MGC13125, fSAP71, Cwc26 uc001ppn.3 Q9BRD0 OTTHUMG00000045136 ENST00000375445.3:c.853-10C>T chr11.hg19:g.116629905G>A NA A8K0S0|Q96LS7 hg19 CCDS53712.1 0.02 16.279545 AACxGAA COVERED NOVEL BUD13-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000104865.1 1 21.970141 KEEP 0 0 0 73 2466 GG 1 1 0 - 34 60 1266 0 0 93.104944 346 60 12330 519 ENST00000375445.3 0.089474 1 BUD13 84811 __UNKNOWN__ __UNKNOWN__ 11 116633947 116633947 __UNKNOWN__ Missense_Mutation SNP G G A rs10488698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116633947G>A ENST00000375445.3 - 4 380 c.358C>T c.(358-360)Cgt>Tgt p.R120C BUD13_ENST00000260210.4_Missense_Mutation_p.R120C NM_001159736.1 NP_001153208.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 120 NA R -> C (in dbSNP:rs10488698). mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398) nucleus (GO:0005634)|RES complex (GO:0070274) poly(A) RNA binding (GO:0044822) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GTATCGTGACGAAAATGTCTG 0.522 NA G||| 246 0.0491214 0.0015 0.1052 5008 , , NA 17925 0.0675 NA 0.0596 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 G CYS/ARG,CYS/ARG 50,4348 0,50,2149 68 72 71 358,358 3.9 0 11 dbSNP_119 71 465,8125 15,435,3845 yes missense,missense BUD13 NM_001159736.1,NM_032725.3 180,180 15,485,5994 AA,AG,GG 5.4133,1.1369,3.9652 benign,benign 120/486,120/620 116633947 515,12473 2199 4295 6494 SO:0001583 missense BC006350 CCDS8374.1, CCDS53712.1 11q23.3 2012-06-07 2007-01-12 ENSG00000137656 ENSG00000137656 84811 28199 protein-coding gene gene with protein product functional spliceosome-associated protein 71 BUD13 homolog (yeast) NA 12477932 Standard NM_032725 NM_032725 NA Approved MGC13125, fSAP71, Cwc26 uc001ppn.3 Q9BRD0 OTTHUMG00000045136 ENST00000375445.3:c.358C>T chr11.hg19:g.116633947G>A ENSP00000364594:p.Arg120Cys NA A8K0S0|Q96LS7 hg19 CCDS53712.1 0.02 8.67256 GACxAAA COVERED 121 0.0554029304029304 1 0.0020325203252032522 40 0.11049723756906077 39 0.06818181818181818 41 0.05408970976253298 G 4.626 0.116344 0.08881 0.011369 0.054133 ENSG00000137656 ENST00000375445;ENST00000260210 T;T 0.21031 2.03;2.05 5.76 3.9 0.45041 . 1.317210 0.04326 N 0.351585 T 0.00384 0.0012 L 0.28400 0.85 0.80722 P 0.0 B;B;B 0.14805 0.011;0.002;0.011 B;B;B 0.06405 0.002;0.001;0.002 T 0.15464 -1.0436 9 0.87932 D 0 3.1786 9.983 0.41824 0.1555:0.0:0.8444:0.0 rs10488698;rs17440790;rs52811622;rs61089490;rs10488698 120;120;120 A8K4Z6;Q9BRD0-2;Q9BRD0 .;.;BUD13_HUMAN C 120 ENSP00000364594:R120C;ENSP00000260210:R120C ENSP00000260210:R120C R - 1 0 BUD13 116139157 0.004000 0.15560 0.002000 0.10522 0.007000 0.05969 1.100000 0.31025 0.777000 0.33496 0.655000 0.94253 CGT NOVEL BUD13-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000104865.1 1 10.165891 KEEP 0 1 20 41 1394 GG 1 1 0 - 14 60 491 0 0 32.701422 223 60 8212 334 ENST00000375445.3 0.059072 1 ZNF259 0 __UNKNOWN__ __UNKNOWN__ 11 116648776 116648776 __UNKNOWN__ 3'UTR SNP C C A rs78296522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116648776C>A ENST00000227322.3 - 0 2304 NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN NA NA apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834) axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797) translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) tgacctcctcctcagctttgc 0.512 NA C||| 201 0.0401358 0.0015 0.0965 5008 , , NA 21227 0.0387 NA 0.0517 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000227322.3:c.*865G>T chr11.hg19:g.116648776C>A NA Q2TAA0 hg19 CCDS8375.1 0.02 13.589128 CTCxTCA COVERED NOVEL ZNF259-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106283.2 6 16.990128 KEEP 0 1 30 67 2412 CC 1 1 0 - 21 60 773 0 0 53.91381 291 60 10941 453 ENST00000227322.3 0.067308 1 ZNF259 0 __UNKNOWN__ __UNKNOWN__ 11 116653762 116653762 __UNKNOWN__ Intron SNP C C T rs76836072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116653762C>T ENST00000227322.3 - 11 1041 NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN NA NA apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834) axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797) translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) AATGAGAGGTCAGTTTAAGCT 0.493 NA C||| 219 0.04373 0.0015 0.1066 5008 , , NA 21342 0.0397 NA 0.0606 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 C 52,4350 52.3+/-87.9 0,52,2149 50 44 46 2.2 0 11 dbSNP_132 46 477,8115 140.0+/-196.6 16,445,3835 no intron ZNF259 NM_003904.3 16,497,5984 TT,TC,CC 5.5517,1.1813,4.0711 116653762 529,12465 2201 4296 6497 SO:0001627 intron_variant NA NA NA NA ENST00000227322.3:c.982-17G>A chr11.hg19:g.116653762C>T NA Q2TAA0 hg19 CCDS8375.1 0.02 5.806374 GGTxAGT COVERED NOVEL ZNF259-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106283.2 0 18.058862 KEEP 0 0 0 60 2122 CC 1 1 0 - 7 60 224 0 0 13.40992 148 60 5600 255 ENST00000227322.3 0.045161 1 APOA4 337 __UNKNOWN__ __UNKNOWN__ 11 116692552 116692552 __UNKNOWN__ Silent SNP A A G rs5103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116692552A>G ENST00000357780.3 - 3 336 c.222T>C c.(220-222)ggT>ggC p.G74G NM_000482.3 NP_000473.2 P06727 APOA4_HUMAN apolipoprotein A-IV 74 13 X 22 AA approximate tandem repeats. NA G -> S (in dbSNP:rs5102). cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372) blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361) antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803) cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) tctgcaggtcacctgcgtAAG 0.557 NA A||| 147 0.029353 0.0008 0.0303 5008 , , NA 21110 0.0556 NA 0.0278 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 A 35,4367 40.0+/-72.8 1,33,2167 118 108 112 222 -10.7 0 11 dbSNP_52 112 309,8281 110.8+/-171.2 4,301,3990 no coding-synonymous APOA4 NM_000482.3 5,334,6157 GG,GA,AA 3.5972,0.7951,2.6478 74/397 116692552 344,12648 2201 4295 6496 SO:0001819 synonymous_variant CCDS31681.1 11q23.3 2013-01-24 ENSG00000110244 ENSG00000110244 337 Apolipoproteins 602 protein-coding gene gene with protein product 107690 NA Standard NM_000482 NM_000482 NA Approved uc001pps.1 P06727 OTTHUMG00000046110 ENST00000357780.3:c.222T>C chr11.hg19:g.116692552A>G NA A8MSL6|Q14CW8|Q6Q787 hg19 CCDS31681.1 0.02 14.351138 GTCxCCT COVERED NOVEL APOA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106279.2 1 14.140307 KEEP 0 0 0 47 1430 AA 1 1 0 - 22 60 823 0 0 58.486954 283 60 9916 437 ENST00000357780.3 0.072131 1 APOC3 345 __UNKNOWN__ __UNKNOWN__ 11 116701669 116701669 __UNKNOWN__ Intron SNP G G A rs2070667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116701669G>A ENST00000227667.3 + 3 241 APOC3_ENST00000470144.1_Intron|APOC3_ENST00000375345.1_Intron NM_000040.1 NP_000031.1 P02656 APOC3_HUMAN apolipoprotein C-III NA NA cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379) chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361) cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543) endometrium(1)|lung(6) 7 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ATTCCCACCCGCCCCTGCCCT 0.662 NA G||| 1164 0.232428 0.6271 0.1182 5008 , , NA 11652 0.1339 NA 0.0388 False NA ,,, NA NA NA 2504 0.0808 NA NA NA GBM(81;259 1650 7161 35190) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X01388 CCDS8377.1 11q23.3 2013-01-24 ENSG00000110245 ENSG00000110245 345 Apolipoproteins 610 protein-coding gene gene with protein product 107720 NA Standard NM_000040 NM_000040 NA Approved uc001ppt.1 P02656 OTTHUMG00000046115 ENST00000227667.3:c.179+57G>A chr11.hg19:g.116701669G>A NA Q08E83|Q6Q786 hg19 CCDS8377.1 0.02 -0.307033 CCCxCCC COVERED NOVEL APOC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106284.2 0 2.708762 KEEP 0 0 0 9 310 GG 0.99254 0.794276 0 + 4 60 106 0 0 7.113006 31 60 1126 45 ENST00000227667.3 0.114286 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 116706343 116706343 __UNKNOWN__ IGR SNP T T C rs12718463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116706343T>C NA NA APOC3 (2555 upstream) : APOA1 (123 downstream) NA NA NA CCCTAAGACGTCCAGTCTGGG 0.622 NA C||| 806 0.160942 0.4766 0.0793 5008 , , NA 16342 0.0506 NA 0.0219 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.116706343T>C NA hg19 0.02 2.587201 ACGxCCA COVERED NOVEL 0 0 9.926141 KEEP 0 0 0 33 944 TT 0.999998 0.981953 0 5 60 183 0 0 13.329824 52 60 1827 97 0.087719 0.981955 APOA1 335 __UNKNOWN__ __UNKNOWN__ 11 116708020 116708020 __UNKNOWN__ Intron SNP A A G rs5070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116708020A>G ENST00000375329.2 - 1 266 APOA1_ENST00000375323.1_Intron|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000359492.2_Intron|APOA1_ENST00000375320.1_Intron|APOA1_ENST00000236850.4_Intron P02647 APOA1_HUMAN apolipoprotein A-I NA NA adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328) blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982) apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548) cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TTAGGGAGAAAGCCCCCCGAT 0.637 NA A||| 2234 0.446086 0.4758 0.487 5008 , , NA 15479 0.2649 NA 0.662 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 A 2362,2016 622,1118,449 23 26 25 -2.4 0 11 dbSNP_52 25 5932,2640 2085,1762,439 no intron APOA1 NM_000039.1 2707,2880,888 GG,GA,AA 30.7979,46.0484,35.9537 116708020 8294,4656 2189 4286 6475 SO:0001627 intron_variant X02162 CCDS8378.1 11q23-q24 2014-09-17 ENSG00000118137 ENSG00000118137 335 Apolipoproteins 600 protein-coding gene gene with protein product 107680 NA Standard NM_000039 NM_000039 NA Approved uc001ppv.1 P02647 OTTHUMG00000046112 ENST00000375329.2:c.134+40T>C chr11.hg19:g.116708020A>G NA A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8 hg19 0.02 7.275678 GAAxGCC COVERED NOVEL APOA1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000142225.4 2 15.581672 KEEP 0 1 38 65 2066 AA 1 1 0 - 14 60 529 0 0 38.192267 167 60 5985 301 ENST00000375329.2 0.077348 1 APOA1 335 __UNKNOWN__ __UNKNOWN__ 11 116708254 116708254 __UNKNOWN__ 5'UTR SNP G G A rs5069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116708254G>A ENST00000375329.2 - 0 72 APOA1_ENST00000375323.1_5'UTR|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000359492.2_Intron|APOA1_ENST00000375320.1_5'UTR|APOA1_ENST00000236850.4_Intron P02647 APOA1_HUMAN apolipoprotein A-I NA NA adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328) blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982) apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548) cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCAGAGGCCCGGCCTGGGGCA 0.647 NA G||| 610 0.121805 0.3351 0.062 5008 , , NA 14830 0.0496 NA 0.0219 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X02162 CCDS8378.1 11q23-q24 2014-09-17 ENSG00000118137 ENSG00000118137 335 Apolipoproteins 600 protein-coding gene gene with protein product 107680 NA Standard NM_000039 NM_000039 NA Approved uc001ppv.1 P02647 OTTHUMG00000046112 ENST00000375329.2:c.-60C>T chr11.hg19:g.116708254G>A NA A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8 hg19 0.02 4.689684 CCCxGCC COVERED NOVEL APOA1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000142225.4 1 14.145136 KEEP 0 0 0 47 1625 GG 1 0.999968 0 - 8 60 302 0 0 21.878564 93 60 3269 198 ENST00000375329.2 0.079208 0.999968 SIK3 23387 __UNKNOWN__ __UNKNOWN__ 11 116968850 116968850 __UNKNOWN__ Intron SNP C C A rs60639658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:116968850C>A ENST00000446921.2 - 1 295 SIK3_ENST00000292055.4_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000375300.1_Intron|SIK3_ENST00000375288.1_Intron NM_001281749.1 NP_001268678.1 Q9Y2K2 SIK3_HUMAN SIK family kinase 3 NA NA protein phosphorylation (GO:0006468) cytoplasm (GO:0005737) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 ctggccccTGCGCCGGTACCT 0.741 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 5798 0.0089 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 15 13 14 NA NA 11 NA 116968850 2178 4276 6454 SO:0001627 intron_variant AB023216 CCDS8379.1, CCDS60974.1, CCDS8379.2 11q23.3 2010-02-17 ENSG00000160584 ENSG00000160584 23387 29165 protein-coding gene gene with protein product 614776 NA 10231032, 8889548 Standard NM_025164 NM_025164 NA Approved FLJ12240, L19, KIAA0999, QSK uc001ppy.3 Q9Y2K2 OTTHUMG00000066628 ENST00000446921.2:c.273+8G>T chr11.hg19:g.116968850C>A NA A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50 hg19 0.02 5.983645 CTGxGCC COVERED NOVEL SIK3-014 KNOWN basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000319396.2 2 64.110197 KEEP 0 0 0 213 7683 CC 1 1 0 - 8 60 270 0 0 16.855796 161 60 5851 544 ENST00000446921.2 0.047337 1 SIDT2 51092 __UNKNOWN__ __UNKNOWN__ 11 117052757 117052757 __UNKNOWN__ Intron SNP G G T rs189196849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117052757G>T ENST00000324225.4 + 4 1001 SIDT2_ENST00000431081.2_Intron|SIDT2_ENST00000530948.1_Intron NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 NA NA cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) RNA transmembrane transporter activity (GO:0051033) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) ACTGGTGGGGGCTCTTCTCTG 0.602 NA G||| 200 0.0399361 0.0015 0.0274 5008 , , NA 15879 0.0387 NA 0.0209 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 G 30,4372 36.0+/-67.5 0,30,2171 32 34 34 -3.7 0 11 34 266,8326 102.5+/-163.7 2,262,4032 no intron SIDT2 NM_001040455.1 2,292,6203 TT,TG,GG 3.0959,0.6815,2.278 117052757 296,12698 2201 4296 6497 SO:0001627 intron_variant AF151799 CCDS31682.1 11q23.3 2008-02-05 ENSG00000149577 ENSG00000149577 51092 24272 protein-coding gene gene with protein product NA 10810093, 12975309 Standard NM_015996 NM_001040455 NA Approved CGI-40 uc001pqh.1 Q8NBJ9 OTTHUMG00000167065 ENST00000324225.4:c.471-19G>T chr11.hg19:g.117052757G>T NA Q8NBY7|Q9Y357 hg19 CCDS31682.1 0.02 6.370002 GGGxCTC COVERED NOVEL SIDT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392836.1 1 20.149384 KEEP 0 0 0 67 2358 GG 1 1 0 + 13 60 460 0 0 31.882289 169 60 6072 301 ENST00000324225.4 0.071429 1 TAGLN 6876 __UNKNOWN__ __UNKNOWN__ 11 117072970 117072970 __UNKNOWN__ 5'UTR SNP G G A rs74967901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117072970G>A ENST00000532870.1 + 0 382 TAGLN_ENST00000392951.4_Intron|TAGLN_ENST00000530649.1_Intron Q01995 TAGL_HUMAN transgelin NA NA epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517) cytoplasm (GO:0005737) central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1) 7 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435) ATTTCTCTGAGGAAATGCAGC 0.537 NA G||| 200 0.0399361 0.0015 0.0274 5008 , , NA 23662 0.0387 NA 0.0209 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M95787 CCDS8381.1 11q23.2 2008-07-21 ENSG00000149591 6876 11553 protein-coding gene gene with protein product SM22-alpha, transgelin variant 2 600818 NA 8117285, 1520290 Standard NM_001001522 NM_003186 NA Approved SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128 uc001pqm.3 Q01995 ENST00000532870.1:c.-760G>A chr11.hg19:g.117072970G>A NA O15542 hg19 CCDS8381.1 0.02 14.749206 TGAxGAA COVERED NOVEL TAGLN-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392864.1 3 46.649673 KEEP 0 0 0 155 5433 GG 1 1 0 + 20 60 768 0 0 54.289762 285 60 10725 564 ENST00000532870.1 0.065574 1 PCSK7 9159 __UNKNOWN__ __UNKNOWN__ 11 117076336 117076336 __UNKNOWN__ 3'UTR SNP T T C rs78301905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117076336T>C ENST00000320934.3 - 0 3365 PCSK7_ENST00000540028.1_3'UTR NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 NA NA peptide hormone processing (GO:0016486)|protein processing (GO:0016485) integral component of Golgi membrane (GO:0030173) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GATGTTTCCATTGAGATGCGC 0.587 NA T IGH@ MLCLS t||| 202 0.0403355 0.0015 0.0274 5008 , , NA 18596 0.0397 NA 0.0209 False NA ,,, NA NA NA 2504 0.1227 NA NA NA Dom yes 11 11q23.3 9159 proprotein convertase subtilisin/kexin type 7 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U40623 CCDS8382.1 11q23-q24 2008-02-01 ENSG00000160613 ENSG00000160613 9159 8748 protein-coding gene gene with protein product 604872 NA 8615762, 9820811 Standard NM_004716 XM_006718938 NA Approved PC7, PC8, LPC, SPC7 uc001pqr.3 Q16549 OTTHUMG00000165640 ENST00000320934.3:c.*377A>G chr11.hg19:g.117076336T>C NA B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57 hg19 CCDS8382.1 0.02 7.466073 CCAxTGA COVERED NOVEL PCSK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385529.2 2 25.848112 KEEP 0 0 0 86 2684 TT 1 1 0 - 13 60 516 0 0 37.469589 169 60 5995 306 ENST00000320934.3 0.071429 1 PCSK7 9159 __UNKNOWN__ __UNKNOWN__ 11 117099025 117099025 __UNKNOWN__ Silent SNP A A G rs2306474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117099025A>G ENST00000320934.3 - 4 1140 c.510T>C c.(508-510)ggT>ggC p.G170G NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 170 NA peptide hormone processing (GO:0016486)|protein processing (GO:0016485) integral component of Golgi membrane (GO:0030173) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GTTCCCACACACCCGTCACGT 0.557 NA T IGH@ MLCLS A||| 197 0.0393371 0.0015 0.0245 5008 , , NA 18754 0.0377 NA 0.0189 False NA ,,, NA NA NA 2504 0.1237 NA NA NA Dom yes 11 11q23.3 9159 proprotein convertase subtilisin/kexin type 7 L 0 A 31,4371 36.8+/-68.6 0,31,2170 251 144 180 510 1.1 1 11 dbSNP_100 180 270,8322 103.1+/-164.3 2,266,4028 no coding-synonymous PCSK7 NM_004716.2 2,297,6198 GG,GA,AA 3.1425,0.7042,2.3165 170/786 117099025 301,12693 2201 4296 6497 SO:0001819 synonymous_variant U40623 CCDS8382.1 11q23-q24 2008-02-01 ENSG00000160613 ENSG00000160613 9159 8748 protein-coding gene gene with protein product 604872 NA 8615762, 9820811 Standard NM_004716 XM_006718938 NA Approved PC7, PC8, LPC, SPC7 uc001pqr.3 Q16549 OTTHUMG00000165640 ENST00000320934.3:c.510T>C chr11.hg19:g.117099025A>G NA B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57 hg19 CCDS8382.1 0.02 14.327652 CACxCCC COVERED NOVEL PCSK7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385529.2 0 39.343026 KEEP 0 0 0 131 3913 AA 1 1 0 - 19 60 646 0 0 43.106905 289 60 9387 577 ENST00000320934.3 0.061688 1 RNF214 257160 __UNKNOWN__ __UNKNOWN__ 11 117152563 117152563 __UNKNOWN__ Intron SNP T T C rs141677706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117152563T>C ENST00000531452.1 + 11 1381 RNF214_ENST00000300650.4_Intron|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron NM_001077239.1|NM_001278249.1 NP_001070707.1|NP_001265178.1 Q8ND24 RN214_HUMAN ring finger protein 214 NA NA zinc ion binding (GO:0008270) cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TCCTAAACTTTCTTTTTCTTC 0.458 NA T||| 90 0.0179712 0.0008 0.0 5008 , , NA 19527 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 T , 2,3756 0,2,1877 74 75 75 , -0.4 0 11 dbSNP_134 75 0,8220 0,0,4110 no intron,intron RNF214 NM_001077239.1,NM_207343.2 , 0,2,5987 CC,CT,TT 0.0,0.0532,0.0167 , , 117152563 2,11976 1879 4110 5989 SO:0001627 intron_variant AL834448 CCDS41720.1, CCDS60976.1 11q23.3 2014-02-12 2007-02-16 ENSG00000167257 ENSG00000167257 257160 RING-type (C3HC4) zinc fingers 25335 protein-coding gene gene with protein product NA Standard NM_001077239 NM_001077239 NA Approved DKFZp547C195 uc001pqt.4 Q8ND24 OTTHUMG00000167069 ENST00000531452.1:c.1336-47T>C chr11.hg19:g.117152563T>C NA B2RUW0|B4DTD1 hg19 CCDS41720.1 0.02 26.406615 CTTxCTT COVERED NOVEL RNF214-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392884.1 3 49.643595 KEEP 0 0 0 165 5142 TT 1 1 0 + 22 60 849 0 0 55.049632 542 60 19540 911 ENST00000531452.1 0.039007 1 DSCAML1 57453 __UNKNOWN__ __UNKNOWN__ 11 117309989 117309989 __UNKNOWN__ Silent SNP C C T rs11216386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117309989C>T ENST00000321322.6 - 23 4318 c.4317G>A c.(4315-4317)ctG>ctA p.L1439L DSCAML1_ENST00000527706.1_Silent_p.L1169L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1379 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162) cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCTTGCACCAGAAGGTTGA 0.572 NA C||| 1263 0.252196 0.1997 0.1758 5008 , , NA 20500 0.5565 NA 0.1064 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 C 824,3578 328.8+/-300.7 66,692,1443 105 97 100 4317 0.8 1 11 dbSNP_120 100 836,7756 192.1+/-238.2 40,756,3500 no coding-synonymous DSCAML1 NM_020693.2 106,1448,4943 TT,TC,CC 9.73,18.7188,12.7751 1439/2114 117309989 1660,11334 2201 4296 6497 SO:0001819 synonymous_variant CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 57453 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 14656 protein-coding gene gene with protein product 611782 NA 11453658 Standard NM_020693 NM_020693 NA Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.4317G>A chr11.hg19:g.117309989C>T NA Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 hg19 CCDS8384.1 0.02 11.011091 CACxAGA COVERED NOVEL DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392907.2 0 14.146432 KEEP 0 0 0 47 1695 CC 1 1 0 - 15 60 550 0 0 37.441948 238 60 9167 402 ENST00000321322.6 0.059289 1 DSCAML1 57453 __UNKNOWN__ __UNKNOWN__ 11 117310022 117310022 __UNKNOWN__ Silent SNP A A G rs11216387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117310022A>G ENST00000321322.6 - 23 4285 c.4284T>C c.(4282-4284)acT>acC p.T1428T DSCAML1_ENST00000527706.1_Silent_p.T1158T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1368 Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162) cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) p.T1428T(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CAAAGCCACCAGTGTTGGTGG 0.592 NA G||| 1523 0.304113 0.3116 0.3012 5008 , , NA 19567 0.5605 NA 0.1233 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 1242,3160 703.8+/-407.0 173,896,1132 121 107 112 4284 -7.4 0.1 11 dbSNP_120 112 916,7676 776.9+/-407.7 50,816,3430 no coding-synonymous DSCAML1 NM_020693.2 223,1712,4562 GG,GA,AA 10.6611,28.2144,16.6077 1428/2114 117310022 2158,10836 2201 4296 6497 SO:0001819 synonymous_variant CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 57453 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 14656 protein-coding gene gene with protein product 611782 NA 11453658 Standard NM_020693 NM_020693 NA Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.4284T>C chr11.hg19:g.117310022A>G NA Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 hg19 CCDS8384.1 0.02 9.364266 ACCxGTG COVERED NOVEL DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392907.2 0 11.132917 KEEP 0 0 0 37 1144 AA 1 1 0 - 15 60 553 0 0 38.836152 200 60 7491 307 ENST00000321322.6 0.069767 1 DSCAML1 57453 __UNKNOWN__ __UNKNOWN__ 11 117335722 117335722 __UNKNOWN__ Silent SNP T T C rs538847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117335722T>C ENST00000321322.6 - 17 3382 c.3381A>G c.(3379-3381)caA>caG p.Q1127Q DSCAML1_ENST00000527706.1_Silent_p.Q857Q NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1067 Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162) cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GATTGAAGGCTTGGACCACCA 0.612 NA C||| 3685 0.735823 0.8585 0.6787 5008 , , NA 16425 0.8958 NA 0.501 False NA ,,, NA NA NA 2504 0.6871 NA NA NA NA 0 C 3482,920 353.1+/-312.0 1372,738,91 116 93 101 3381 0.7 1 11 dbSNP_83 101 4510,4082 560.7+/-387.6 1184,2142,970 no coding-synonymous DSCAML1 NM_020693.2 2556,2880,1061 CC,CT,TT 47.5093,20.8996,38.4947 1127/2114 117335722 7992,5002 2201 4296 6497 SO:0001819 synonymous_variant CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 57453 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 14656 protein-coding gene gene with protein product 611782 NA 11453658 Standard NM_020693 NM_020693 NA Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.3381A>G chr11.hg19:g.117335722T>C NA Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 hg19 CCDS8384.1 0.02 4.239507 GGCxTGG COVERED NOVEL DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392907.2 2 9.026987 KEEP 0 0 0 30 930 TT 0.999997 0.999997 0 - 6 60 221 0 0 14.211914 134 60 4825 211 ENST00000321322.6 0.042857 1 DSCAML1 57453 __UNKNOWN__ __UNKNOWN__ 11 117391815 117391815 __UNKNOWN__ Intron SNP C C T rs201268500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117391815C>T ENST00000321322.6 - 6 1395 DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 NA NA axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162) cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GCCCTGAACCCGCCCCCTGTG 0.642 NA T||| 6 0.00119808 0.0 0.0 5008 , , NA 14613 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T 0,4402 0,0,2201 52 56 55 -3.1 0 11 55 2,8590 795.6+/-407.5 0,2,4294 no intron DSCAML1 NM_020693.2 0,2,6495 TT,TC,CC 0.0233,0.0,0.0154 117391815 2,12992 2201 4296 6497 SO:0001627 intron_variant CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 57453 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 14656 protein-coding gene gene with protein product 611782 NA 11453658 Standard NM_020693 NM_020693 NA Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.1393+29G>A chr11.hg19:g.117391815C>T NA Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 hg19 CCDS8384.1 0.02 -0.367907 ACCxGCC COVERED NOVEL DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392907.2 0 3.30806 KEEP 0 0 0 11 341 CC 0.993072 0.902771 0 - 3 60 108 0 0 7.541833 39 60 1369 56 ENST00000321322.6 0.071429 0.909069 DSCAML1 57453 __UNKNOWN__ __UNKNOWN__ 11 117395481 117395481 __UNKNOWN__ Intron SNP G G A rs2276339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117395481G>A ENST00000321322.6 - 5 1119 DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 NA NA axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162) cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGCGCCCTCAGAGGTTACTGG 0.622 NA A||| 1320 0.263578 0.2005 0.2392 5008 , , NA 16869 0.38 NA 0.1849 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 A 891,3493 98,695,1399 20 19 19 -3.3 0 11 dbSNP_100 19 1468,7056 114,1240,2908 no intron DSCAML1 NM_020693.2 212,1935,4307 AA,AG,GG 17.222,20.3239,18.2755 117395481 2359,10549 2192 4262 6454 SO:0001627 intron_variant CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 57453 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 14656 protein-coding gene gene with protein product 611782 NA 11453658 Standard NM_020693 NM_020693 NA Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.1117+38C>T chr11.hg19:g.117395481G>A NA Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 hg19 CCDS8384.1 0.02 2.012412 TCAxAGG COVERED NOVEL DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392907.2 0 3.009773 KEEP 0 0 0 10 354 GG 0.992708 0.991583 0 - 5 60 181 0 0 12.451523 72 60 2720 99 ENST00000321322.6 0.064935 0.998867 DSCAML1 57453 __UNKNOWN__ __UNKNOWN__ 11 117403235 117403235 __UNKNOWN__ Missense_Mutation SNP G G T rs3741280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117403235G>T ENST00000321322.6 - 4 695 c.694C>A c.(694-696)Cac>Aac p.H232N DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 172 Ig-like C2-type 3. NA axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162) cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803) p.H232N(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AAAAACCTGTGTTCTGGAGAC 0.498 NA T||| 2267 0.452676 0.4796 0.3732 5008 , , NA 19258 0.5417 NA 0.2654 False NA ,,, NA NA NA 2504 0.5736 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T ASN/HIS 1928,2474 624.5+/-394.3 425,1078,698 88 81 84 694 4.9 1 11 dbSNP_107 84 2265,6327 707.5+/-405.6 309,1647,2340 yes missense DSCAML1 NM_020693.2 68 734,2725,3038 TT,TG,GG 26.3617,43.7983,32.2687 benign 232/2114 117403235 4193,8801 2201 4296 6497 SO:0001583 missense CCDS8384.1 11q22.2-q22.3 2013-02-11 ENSG00000177103 ENSG00000177103 57453 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 14656 protein-coding gene gene with protein product 611782 NA 11453658 Standard NM_020693 NM_020693 NA Approved KIAA1132 uc001prh.1 Q8TD84 OTTHUMG00000167071 ENST00000321322.6:c.694C>A chr11.hg19:g.117403235G>T ENSP00000315465:p.His232Asn NA Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7 hg19 CCDS8384.1 0.02 9.034835 TGTxTTC COVERED 823 0.3768315018315018 215 0.4369918699186992 118 0.3259668508287293 297 0.5192307692307693 193 0.2546174142480211 T 5.290 0.238934 0.10023 0.437983 0.263617 ENSG00000177103 ENST00000321322 T 0.76316 -1.01 4.88 4.88 0.63580 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.02011 -0.69 0.47737 P 4.92000000000048E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.44620 -0.9316 8 0.23302 T 0.38 . 6.9151 0.24355 0.0:0.0752:0.1524:0.7724 rs3741280;rs52818394;rs60670777;rs3741280 172 Q8TD84 DSCL1_HUMAN N 232 ENSP00000315465:H232N ENSP00000315465:H232N H - 1 0 DSCAML1 116908445 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 3.341000 0.52151 0.993000 0.38866 -0.256000 0.11100 CAC NOVEL DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000392907.2 2 14.748269 KEEP 0 0 0 49 1750 GG 1 1 0 - 13 60 469 0 0 32.019517 194 60 7278 310 ENST00000321322.6 0.062802 1 TMPRSS13 84000 __UNKNOWN__ __UNKNOWN__ 11 117773917 117773917 __UNKNOWN__ 3'UTR SNP A A T rs12290911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117773917A>T ENST00000430170.2 - 0 2014 TMPRSS13_ENST00000445164.2_3'UTR|TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000528626.1_Intron NM_001244995.1 NP_001231924.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 NA NA blood microparticle (GO:0072562)|integral component of membrane (GO:0016021) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) ttgtgtttttaaaaaAAGACA 0.373 NA A||| 1195 0.238618 0.1679 0.3156 5008 , , NA 16599 0.1865 NA 0.3231 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB048796 CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1 11q23 2010-04-13 2005-03-11 2005-03-12 ENSG00000137747 ENSG00000137747 84000 Serine peptidases / Transmembrane 29808 protein-coding gene gene with protein product 610050 transmembrane protease, serine 11 TMPRSS11 NA 11267681 Standard NM_032046 NM_001077263 NA Approved MSPL uc001prs.2 Q9BYE2 OTTHUMG00000166992 ENST00000430170.2:c.*235T>A chr11.hg19:g.117773917A>T NA B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1 hg19 CCDS58185.1 0.02 3.991666 TTTxAAA COVERED NOVEL TMPRSS13-006 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000392318.1 1 16.381766 KEEP 0 1 30 65 1995 AA 1 1 0 - 5 60 181 0 1 11.219154 129 60 4663 252 ENST00000430170.2 0.037313 1 TMPRSS13 84000 __UNKNOWN__ __UNKNOWN__ 11 117774146 117774146 __UNKNOWN__ 3'UTR SNP C C G rs2186627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117774146C>G ENST00000430170.2 - 0 1785 TMPRSS13_ENST00000445164.2_3'UTR|TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000528626.1_Intron NM_001244995.1 NP_001231924.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 NA NA blood microparticle (GO:0072562)|integral component of membrane (GO:0016021) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GTAGGTCCACCCTTTTTCAAC 0.488 NA C||| 1246 0.248802 0.202 0.3184 5008 , , NA 18795 0.1875 NA 0.326 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB048796 CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1 11q23 2010-04-13 2005-03-11 2005-03-12 ENSG00000137747 ENSG00000137747 84000 Serine peptidases / Transmembrane 29808 protein-coding gene gene with protein product 610050 transmembrane protease, serine 11 TMPRSS11 NA 11267681 Standard NM_032046 NM_001077263 NA Approved MSPL uc001prs.2 Q9BYE2 OTTHUMG00000166992 ENST00000430170.2:c.*6G>C chr11.hg19:g.117774146C>G NA B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1 hg19 CCDS58185.1 0.02 12.312897 CACxCTT COVERED NOVEL TMPRSS13-006 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000392318.1 1 30.0962 KEEP 0 0 0 100 3446 CC 1 1 0 - 11 60 356 1 0 20.38597 322 60 11472 521 ENST00000430170.2 0.033033 1 TMPRSS13 84000 __UNKNOWN__ __UNKNOWN__ 11 117789242 117789242 __UNKNOWN__ Silent SNP C C G rs3802870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117789242C>G ENST00000430170.2 - 2 420 c.333G>C c.(331-333)tcG>tcC p.S111S TMPRSS13_ENST00000445164.2_Silent_p.S111S|TMPRSS13_ENST00000524993.1_Silent_p.S111S|TMPRSS13_ENST00000528626.1_Silent_p.S111S|TMPRSS13_ENST00000526090.1_Silent_p.S111S NM_001244995.1 NP_001231924.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 111 NA blood microparticle (GO:0072562)|integral component of membrane (GO:0016021) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AGGTTGTCACCGAGGCTGACC 0.612 NA N||| 519 0.103634 0.1165 0.0605 5008 , , NA 17419 0.1696 NA 0.0338 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 G ,, 480,3730 17,446,1642 73 87 82 333,333,333 -1.1 0 11 dbSNP_107 82 271,8175 3,265,3955 no coding-synonymous,coding-synonymous,coding-synonymous TMPRSS13 NM_001077263.2,NM_001206789.1,NM_001206790.1 ,, 20,711,5597 GG,GC,CC 3.2086,11.4014,5.9339 ,, 111/568,111/533,111/492 117789242 751,11905 2105 4223 6328 SO:0001819 synonymous_variant AB048796 CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1 11q23 2010-04-13 2005-03-11 2005-03-12 ENSG00000137747 ENSG00000137747 84000 Serine peptidases / Transmembrane 29808 protein-coding gene gene with protein product 610050 transmembrane protease, serine 11 TMPRSS11 NA 11267681 Standard NM_032046 NM_001077263 NA Approved MSPL uc001prs.2 Q9BYE2 OTTHUMG00000166992 ENST00000430170.2:c.333G>C chr11.hg19:g.117789242C>G NA B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1 hg19 CCDS58185.1 0.02 11.00344 CACxGAG COVERED NOVEL TMPRSS13-006 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000392318.1 4 23.172781 KEEP 0 0 0 77 2589 CC 1 1 0 - 11 60 391 0 0 24.260228 267 70 9381 463 ENST00000430170.2 0.039568 1 IL10RA 3587 __UNKNOWN__ __UNKNOWN__ 11 117863888 117863888 __UNKNOWN__ Intron SNP C C G rs4252307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117863888C>G ENST00000227752.3 + 4 487 IL10RA_ENST00000541785.1_Intron|IL10RA_ENST00000533700.1_Intron|IL10RA_ENST00000545409.1_Intron NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha NA NA cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) AAAGTCTCGGCGGGGACACCC 0.517 NA G||| 570 0.113818 0.0023 0.0504 5008 , , NA 16599 0.374 NA 0.0527 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U00672 CCDS8388.1 11q23 2014-09-17 ENSG00000110324 ENSG00000110324 3587 Interleukins and interleukin receptors, CD molecules 5964 protein-coding gene gene with protein product 146933 IL10R NA 8120391 Standard NR_026691 NA Approved HIL-10R, CDW210A, CD210a, CD210 uc001prv.3 Q13651 OTTHUMG00000166523 ENST00000227752.3:c.368-68C>G chr11.hg19:g.117863888C>G NA A8K6I0|B0YJ27 hg19 CCDS8388.1 0.02 5.876949 CGGxGGG COVERED NOVEL IL10RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390167.1 1 8.72831 KEEP 0 0 0 29 1025 CC 0.999997 0.999997 0 + 6 60 211 0 0 12.531586 175 60 6395 239 ENST00000227752.3 0.033149 1 IL10RA 3587 __UNKNOWN__ __UNKNOWN__ 11 117864113 117864113 __UNKNOWN__ Silent SNP G G A rs2228054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117864113G>A ENST00000227752.3 + 4 645 c.525G>A c.(523-525)ccG>ccA p.P175P IL10RA_ENST00000541785.1_Silent_p.P155P|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Silent_p.P26P NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 175 NA cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GCAAGGTGCCGGGAAACTTCA 0.567 NA G||| 584 0.116613 0.003 0.0519 5008 , , NA 19682 0.376 NA 0.0557 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 G 53,4347 52.3+/-87.9 0,53,2147 69 64 65 525 -11.5 0 11 dbSNP_98 65 490,8102 141.4+/-197.7 16,458,3822 no coding-synonymous IL10RA NM_001558.3 16,511,5969 AA,AG,GG 5.703,1.2045,4.1795 175/579 117864113 543,12449 2200 4296 6496 SO:0001819 synonymous_variant U00672 CCDS8388.1 11q23 2014-09-17 ENSG00000110324 ENSG00000110324 3587 Interleukins and interleukin receptors, CD molecules 5964 protein-coding gene gene with protein product 146933 IL10R NA 8120391 Standard NR_026691 NA Approved HIL-10R, CDW210A, CD210a, CD210 uc001prv.3 Q13651 OTTHUMG00000166523 ENST00000227752.3:c.525G>A chr11.hg19:g.117864113G>A NA A8K6I0|B0YJ27 hg19 CCDS8388.1 0.02 4.871981 GCCxGGA COVERED NOVEL IL10RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390167.1 1 6.6202 KEEP 0 0 0 22 722 GG 0.999879 0.999863 0 + 6 60 205 0 0 13.559207 97 60 3427 140 ENST00000227752.3 0.058252 0.999984 IL10RA 3587 __UNKNOWN__ __UNKNOWN__ 11 117864846 117864846 __UNKNOWN__ Missense_Mutation SNP A A G rs2228055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117864846A>G ENST00000227752.3 + 5 790 c.670A>G c.(670-672)Atc>Gtc p.I224V IL10RA_ENST00000541785.1_Missense_Mutation_p.I204V|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.I75V NM_001558.3 NP_001549.2 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha 224 NA I -> V (in dbSNP:rs2228055). cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) AGAGGAGTGCATCTCCCTCAC 0.577 NA G||| 573 0.114417 0.003 0.0504 5008 , , NA 19628 0.376 NA 0.0527 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 G VAL/ILE 51,4349 820.8+/-416.4 0,51,2149 88 74 79 670 -3.9 0 11 dbSNP_98 79 480,8112 797.6+/-407.4 17,446,3833 yes missense IL10RA NM_001558.3 29 17,497,5982 GG,GA,AA 5.5866,1.1591,4.0871 benign 224/579 117864846 531,12461 2200 4296 6496 SO:0001583 missense U00672 CCDS8388.1 11q23 2014-09-17 ENSG00000110324 ENSG00000110324 3587 Interleukins and interleukin receptors, CD molecules 5964 protein-coding gene gene with protein product 146933 IL10R NA 8120391 Standard NR_026691 NA Approved HIL-10R, CDW210A, CD210a, CD210 uc001prv.3 Q13651 OTTHUMG00000166523 ENST00000227752.3:c.670A>G chr11.hg19:g.117864846A>G ENSP00000227752:p.Ile224Val NA A8K6I0|B0YJ27 hg19 CCDS8388.1 0.02 1.836781 TGCxTCT COVERED 265 0.12133699633699634 2 0.0040650406504065045 15 0.04143646408839779 211 0.3688811188811189 37 0.048812664907651716 G 0.365 -0.937056 0.02340 0.011591 0.055866 ENSG00000110324 ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858 T;T;T 0.40225 1.04;1.04;1.04 5.7 -3.92 0.04155 Fibronectin, type III (1);Immunoglobulin-like fold (1); 0.952332 0.08811 N 0.890265 T 0.00012 0.0000 N 0.17082 0.46 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.33471 -0.9867 9 0.02654 T 1 -6.3868 3.3087 0.07009 0.3936:0.1127:0.378:0.1157 rs2228055;rs2282497;rs17121493;rs61386051;rs17121493 204;224 F5GYV8;Q13651 .;I10R1_HUMAN V 224;204;75;204 ENSP00000227752:I224V;ENSP00000441397:I204V;ENSP00000443019:I75V ENSP00000227752:I224V I + 1 0 IL10RA 117370056 0.000000 0.05858 0.008000 0.14137 0.063000 0.16089 -2.050000 0.01404 -1.208000 0.02634 -1.073000 0.02249 ATC NOVEL IL10RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390167.1 0 4.813639 KEEP 0 0 0 16 479 AA 0.997832 0.997771 0 + 6 60 213 0 0 14.391304 91 60 3337 129 ENST00000227752.3 0.061856 0.99994 TMPRSS4-AS1 100526771 __UNKNOWN__ __UNKNOWN__ 11 117896135 117896135 __UNKNOWN__ RNA SNP C C T rs58768562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:117896135C>T ENST00000606951.1 - 0 344 TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA NR_038318.1 TMPRSS4 antisense RNA 1 NA NA NA agtgtgtaaacgttccctttc 0.373 NA C||| 841 0.167931 0.1475 0.0807 5008 , , NA 23294 0.3998 NA 0.0557 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 11q23.3 2012-10-12 2012-08-15 ENSG00000255274 ENSG00000255274 100526771 Long non-coding RNAs 44179 non-coding RNA RNA, long non-coding TMPRSS4 antisense RNA 1 (non-protein coding) NA Standard NR_038318 NR_038318 NA Approved uc001pry.1 OTTHUMG00000166993 ENST00000606951.1: chr11.hg19:g.117896135C>T NA hg19 0.02 4.281153 AAAxGTT COVERED NOVEL TMPRSS4-AS1-003 KNOWN basic antisense NA antisense OTTHUMT00000470982.1 3 10.834681 KEEP 0 0 0 36 1241 CC 0.999999 0.999972 0 - 7 60 250 0 0 17.266822 95 60 3396 172 ENST00000606951.1 0.068627 0.999973 CD3E 916 __UNKNOWN__ __UNKNOWN__ 11 118175540 118175540 __UNKNOWN__ Intron SNP A A G rs2231441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118175540A>G ENST00000361763.4 + 1 232 NM_000733.3 NP_000724.1 P07766 CD3E_HUMAN CD3e molecule, epsilon (CD3-TCR complex) NA NA apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) AGCATTGGGAACAATGGCCCC 0.473 NA A||| 1144 0.228435 0.0477 0.4683 5008 , , NA 20635 0.1855 NA 0.3042 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X03884 CCDS31685.1 11q23 2014-09-17 2006-03-28 ENSG00000198851 ENSG00000198851 916 CD molecules 1674 protein-coding gene gene with protein product 186830 CD3e antigen, epsilon polypeptide (TiT3 complex) NA Standard NM_000733 NM_000733 NA Approved uc001psq.4 P07766 OTTHUMG00000166968 ENST00000361763.4:c.-60+49A>G chr11.hg19:g.118175540A>G NA A8K997 hg19 CCDS31685.1 0.02 4.003687 GGAxCAA COVERED NOVEL CD3E-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000392120.1 3 4.211499 KEEP 0 0 0 14 445 AA 0.995343 0.995343 0 + 5 60 187 0 0 11.643771 140 60 4930 174 ENST00000361763.4 0.034483 1 CD3E 916 __UNKNOWN__ __UNKNOWN__ 11 118178007 118178007 __UNKNOWN__ Silent SNP C C T rs1126924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118178007C>T ENST00000361763.4 + 3 345 c.54C>T c.(52-54)ggC>ggT p.G18G CD3E_ENST00000528600.1_Silent_p.G18G NM_000733.3 NP_000724.1 P07766 CD3E_HUMAN CD3e molecule, epsilon (CD3-TCR complex) 18 NA apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888) p.G18G(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) TTCTAGTTGGCGTTTGGGGGC 0.373 NA C||| 1129 0.225439 0.0386 0.4625 5008 , , NA 20142 0.1865 NA 0.3052 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 382,4018 194.7+/-219.5 20,342,1838 132 116 121 54 -6.5 0.1 11 dbSNP_111 121 2744,5848 437.2+/-358.5 450,1844,2002 no coding-synonymous CD3E NM_000733.3 470,2186,3840 TT,TC,CC 31.9367,8.6818,24.061 18/208 118178007 3126,9866 2200 4296 6496 SO:0001819 synonymous_variant X03884 CCDS31685.1 11q23 2014-09-17 2006-03-28 ENSG00000198851 ENSG00000198851 916 CD molecules 1674 protein-coding gene gene with protein product 186830 CD3e antigen, epsilon polypeptide (TiT3 complex) NA Standard NM_000733 NM_000733 NA Approved uc001psq.4 P07766 OTTHUMG00000166968 ENST00000361763.4:c.54C>T chr11.hg19:g.118178007C>T NA A8K997 hg19 CCDS31685.1 0.02 8.044269 TGGxGTT COVERED NOVEL CD3E-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000392120.1 3 9.028983 KEEP 0 0 0 30 1043 CC 0.999997 0.999997 0 + 8 60 280 0 0 16.77721 220 60 7421 295 ENST00000361763.4 0.035088 1 CD3E 916 __UNKNOWN__ __UNKNOWN__ 11 118185140 118185140 __UNKNOWN__ Intron SNP T T C rs2298821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118185140T>C ENST00000361763.4 + 8 811 CD3E_ENST00000528600.1_Intron NM_000733.3 NP_000724.1 P07766 CD3E_HUMAN CD3e molecule, epsilon (CD3-TCR complex) NA NA apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) GGGAATGAAATGTTTCCCCTC 0.532 NA C||| 1167 0.233027 0.0651 0.4625 5008 , , NA 20622 0.1885 NA 0.3052 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 C 510,3890 774.7+/-414.0 29,452,1719 62 48 53 -4.1 0 11 dbSNP_100 53 2749,5843 676.7+/-403.3 451,1847,1998 no intron CD3E NM_000733.3 480,2299,3717 CC,CT,TT 31.9949,11.5909,25.0847 118185140 3259,9733 2200 4296 6496 SO:0001627 intron_variant X03884 CCDS31685.1 11q23 2014-09-17 2006-03-28 ENSG00000198851 ENSG00000198851 916 CD molecules 1674 protein-coding gene gene with protein product 186830 CD3e antigen, epsilon polypeptide (TiT3 complex) NA Standard NM_000733 NM_000733 NA Approved uc001psq.4 P07766 OTTHUMG00000166968 ENST00000361763.4:c.521-23T>C chr11.hg19:g.118185140T>C NA A8K997 hg19 CCDS31685.1 0.02 4.370037 AAAxGTT COVERED NOVEL CD3E-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000392120.1 0 6.91965 KEEP 0 0 0 23 694 TT 0.999892 0.999892 0 + 7 60 262 0 0 17.826983 118 60 4362 195 ENST00000361763.4 0.056 1 KMT2A 4297 __UNKNOWN__ __UNKNOWN__ 11 118320553 118320553 __UNKNOWN__ Intron SNP G G A rs629470 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118320553G>A ENST00000534358.1 + 1 455 KMT2A_ENST00000389506.5_Intron|KMT2A_ENST00000354520.4_Intron NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 Q03164 KMT2A_HUMAN lysine (K)-specific methyltransferase 2A NA NA anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634) AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) NA TGACTTTTGCGCCAGAATAAG 0.373 NA A||| 1816 0.36262 0.3684 0.1369 5008 , , NA 16579 0.5853 NA 0.165 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L04284 CCDS31686.1, CCDS55791.1 11q23 2014-09-17 2013-05-09 2013-05-09 ENSG00000118058 ENSG00000118058 4297 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 7132 protein-coding gene gene with protein product 159555 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) MLL NA 1720549 Standard NM_005933 NM_001197104 NA Approved TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A Q03164 OTTHUMG00000166337 ENST00000534358.1:c.432+12894G>A chr11.hg19:g.118320553G>A NA E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3 hg19 CCDS55791.1 0.02 6.379449 TGCxCCA COVERED NOVEL KMT2A-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389228.2 3 12.941446 KEEP 0 0 0 43 1488 GG 1 1 0 + 7 60 253 0 0 16.201993 151 60 5239 239 ENST00000534358.1 0.044304 1 KMT2A 4297 __UNKNOWN__ __UNKNOWN__ 11 118320910 118320910 __UNKNOWN__ Intron SNP C C T rs538201176 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118320910C>T ENST00000534358.1 + 1 455 KMT2A_ENST00000389506.5_Intron|KMT2A_ENST00000354520.4_Intron NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 Q03164 KMT2A_HUMAN lysine (K)-specific methyltransferase 2A NA NA anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634) AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) NA TCTGGAAATACACCTTTCTTG 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L04284 CCDS31686.1, CCDS55791.1 11q23 2014-09-17 2013-05-09 2013-05-09 ENSG00000118058 ENSG00000118058 4297 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 7132 protein-coding gene gene with protein product 159555 myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog), myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) MLL NA 1720549 Standard NM_005933 NM_001197104 NA Approved TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A Q03164 OTTHUMG00000166337 ENST00000534358.1:c.432+13251C>T chr11.hg19:g.118320910C>T NA E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3 hg19 CCDS55791.1 0.02 10.554172 ATAxACC COVERED NOVEL KMT2A-001 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000389228.2 3 25.27637 KEEP 0 0 0 84 2914 CC 1 1 0 + 9 60 317 0 1 18.918564 262 60 9432 438 ENST00000534358.1 0.03321 1 IFT46 56912 __UNKNOWN__ __UNKNOWN__ 11 118416073 118416073 __UNKNOWN__ Intron SNP A A C rs3825055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118416073A>C ENST00000264021.3 - 11 1238 IFT46_ENST00000264020.2_Intron|TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Intron NM_001168618.1 NP_001162089.1 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512) protein C-terminus binding (GO:0008022) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 AACAGTAGAAACTATAGTGAT 0.473 NA A||| 1294 0.258387 0.1611 0.0749 5008 , , NA 19702 0.5556 NA 0.1342 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 A ,,, 693,3707 284.3+/-277.5 46,601,1553 85 89 87 ,,, -3 0 11 dbSNP_107 87 1131,7459 229.4+/-264.1 68,995,3232 no intron,intron,intron,intron IFT46,TMEM25 NM_001144037.1,NM_001144038.1,NM_001168618.1,NM_020153.3 ,,, 114,1596,4785 CC,CA,AA 13.1665,15.75,14.0416 ,,, ,,, 118416073 1824,11166 2200 4295 6495 SO:0001627 intron_variant AL136934 CCDS8399.1, CCDS53718.1 11q23.3 2014-07-18 2014-07-03 2010-04-22 ENSG00000118096 ENSG00000118096 56912 Intraflagellar transport homologs 26146 protein-coding gene gene with protein product cilia and flagella associated protein 32 chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas) C11orf60 NA 10873569, 19253336 Standard NM_020153 NM_020153 NA Approved C11orf2, FLJ21827, CFAP32 uc001pto.2 Q9NQC8 OTTHUMG00000166408 ENST00000264021.3:c.819+50T>G chr11.hg19:g.118416073A>C NA A8K0F6|Q9H6V5 hg19 CCDS53718.1 0.02 6.588005 GAAxCTA COVERED NOVEL IFT46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389627.1 1 8.426317 KEEP 0 0 0 28 910 AA 0.999997 0.999997 0 - 11 60 411 1 0 28.082016 180 60 6376 259 ENST00000264021.3 0.057592 1 IFT46 56912 __UNKNOWN__ __UNKNOWN__ 11 118416253 118416253 __UNKNOWN__ Intron SNP C C T rs2277295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118416253C>T ENST00000264021.3 - 11 1152 IFT46_ENST00000264020.2_Intron|TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Intron NM_001168618.1 NP_001162089.1 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 NA NA cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512) protein C-terminus binding (GO:0008022) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 AAACAAACTCCGGGAATTAGA 0.498 NA T||| 1290 0.257588 0.1672 0.0778 5008 , , NA 21581 0.5427 NA 0.1322 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 T ,,, 701,3699 753.0+/-412.3 47,607,1546 38 40 39 ,,, -6.2 0 11 dbSNP_100 39 1123,7467 764.3+/-407.6 67,989,3239 no intron,intron,intron,intron IFT46,TMEM25 NM_001144037.1,NM_001144038.1,NM_001168618.1,NM_020153.3 ,,, 114,1596,4785 TT,TC,CC 13.0733,15.9318,14.0416 ,,, ,,, 118416253 1824,11166 2200 4295 6495 SO:0001627 intron_variant AL136934 CCDS8399.1, CCDS53718.1 11q23.3 2014-07-18 2014-07-03 2010-04-22 ENSG00000118096 ENSG00000118096 56912 Intraflagellar transport homologs 26146 protein-coding gene gene with protein product cilia and flagella associated protein 32 chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas) C11orf60 NA 10873569, 19253336 Standard NM_020153 NM_020153 NA Approved C11orf2, FLJ21827, CFAP32 uc001pto.2 Q9NQC8 OTTHUMG00000166408 ENST00000264021.3:c.734-44G>A chr11.hg19:g.118416253C>T NA A8K0F6|Q9H6V5 hg19 CCDS53718.1 0.02 4.440451 CTCxGGG COVERED NOVEL IFT46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389627.1 1 7.823309 KEEP 0 0 0 26 834 CC 0.999957 0.999955 0 - 8 60 297 0 0 20.816724 110 60 3643 167 ENST00000264021.3 0.067797 0.999998 IFT46 56912 __UNKNOWN__ __UNKNOWN__ 11 118430519 118430519 __UNKNOWN__ Missense_Mutation SNP C C T rs11552421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118430519C>T ENST00000264021.3 - 3 444 c.26G>A c.(25-27)tGt>tAt p.C9Y IFT46_ENST00000264020.2_Missense_Mutation_p.C9Y|IFT46_ENST00000530872.1_Missense_Mutation_p.C9Y NM_001168618.1 NP_001162089.1 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 9 NA C -> Y (in dbSNP:rs11552421). {ECO:0000269|PubMed:14702039}. cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512) protein C-terminus binding (GO:0008022) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TTCCTCTTCACACTCATCACT 0.368 NA T||| 1377 0.27496 0.2073 0.0821 5008 , , NA 16931 0.5585 NA 0.1352 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 T TYR/CYS,TYR/CYS 874,3526 742.1+/-411.3 78,718,1404 124 102 109 26,26 1.5 1 11 dbSNP_120 109 1138,7452 766.0+/-407.6 68,1002,3225 yes missense,missense IFT46 NM_001168618.1,NM_020153.3 194,194 146,1720,4629 TT,TC,CC 13.248,19.8636,15.4888 benign,benign 9/305,9/356 118430519 2012,10978 2200 4295 6495 SO:0001583 missense AL136934 CCDS8399.1, CCDS53718.1 11q23.3 2014-07-18 2014-07-03 2010-04-22 ENSG00000118096 ENSG00000118096 56912 Intraflagellar transport homologs 26146 protein-coding gene gene with protein product cilia and flagella associated protein 32 chromosome 11 open reading frame 60, intraflagellar transport 46 homolog (Chlamydomonas) C11orf60 NA 10873569, 19253336 Standard NM_020153 NM_020153 NA Approved C11orf2, FLJ21827, CFAP32 uc001pto.2 Q9NQC8 OTTHUMG00000166408 ENST00000264021.3:c.26G>A chr11.hg19:g.118430519C>T ENSP00000264021:p.Cys9Tyr NA A8K0F6|Q9H6V5 hg19 CCDS53718.1 0.02 24.670757 TCAxACT COVERED 525 0.2403846153846154 91 0.18495934959349594 34 0.09392265193370165 297 0.5192307692307693 103 0.1358839050131926 T 0.564 -0.844017 0.02671 0.198636 0.13248 ENSG00000118096 ENST00000264021;ENST00000264020;ENST00000530872;ENST00000531939;ENST00000534156;ENST00000534114;ENST00000528378;ENST00000533918 T;T;T;T;T;T;T;T 0.50001 1.04;0.87;0.85;1.04;1.04;0.76;1.04;1.08 5.47 1.48 0.22813 . 0.573542 0.16988 N 0.191434 T 0.00012 0.0000 N 0.01576 -0.805 0.58432 P 6.999999999979245E-6 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.45366 -0.9266 9 0.02654 T 1 -8.6593 4.5098 0.11906 0.4452:0.0833:0.0:0.4715 rs11552421;rs12226614;rs52798155;rs58579218;rs11552421 9;9;9 E9PR06;Q9NQC8;Q9NQC8-2 .;IFT46_HUMAN;. Y 9 ENSP00000264021:C9Y;ENSP00000264020:C9Y;ENSP00000432384:C9Y;ENSP00000435826:C9Y;ENSP00000434175:C9Y;ENSP00000432982:C9Y;ENSP00000435278:C9Y;ENSP00000435750:C9Y ENSP00000264020:C9Y C - 2 0 IFT46 117935729 0.990000 0.36364 0.991000 0.47740 0.897000 0.52465 0.084000 0.14891 0.092000 0.17331 -0.361000 0.07541 TGT NOVEL IFT46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389627.1 5 32.505835 KEEP 0 0 0 108 3841 CC 1 1 0 - 16 60 584 0 0 34.535678 542 60 20553 864 ENST00000264021.3 0.028674 1 ARCN1 372 __UNKNOWN__ __UNKNOWN__ 11 118471423 118471423 __UNKNOWN__ Silent SNP T T C rs11216925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118471423T>C ENST00000359415.4 + 11 1818 c.1653T>C c.(1651-1653)atT>atC p.I551I ARCN1_ENST00000392859.3_Silent_p.I422I|ARCN1_ENST00000264028.4_Silent_p.I510I|ARCN1_ENST00000534182.2_Intron P48444 COPD_HUMAN archain 1 510 NA adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AGTATGAAATTCTGTAATACC 0.398 NA C||| 1404 0.280351 0.2065 0.0821 5008 , , NA 14674 0.5813 NA 0.1372 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 C , 838,3562 740.3+/-411.2 79,680,1441 103 111 108 1266,1530 3 1 11 dbSNP_120 108 1093,7497 766.1+/-407.6 64,965,3266 no coding-synonymous,coding-synonymous ARCN1 NM_001142281.1,NM_001655.4 , 143,1645,4707 CC,CT,TT 12.7241,19.0455,14.8653 , 422/424,510/512 118471423 1931,11059 2200 4295 6495 SO:0001819 synonymous_variant X81197 CCDS8400.1, CCDS44749.1 11q23.3 2010-04-21 2003-01-29 ENSG00000095139 ENSG00000095139 372 649 protein-coding gene gene with protein product 600820 coatomer protein complex, subunit delta COPD NA 7782067, 8854871 Standard NM_001655 NA Approved uc001ptq.3 P48444 OTTHUMG00000166340 ENST00000359415.4:c.1653T>C chr11.hg19:g.118471423T>C NA B4E1X2|E9PEU4|Q52M80 hg19 0.02 17.231924 AATxCTG COVERED NOVEL ARCN1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389275.1 1 42.125167 KEEP 0 0 0 140 4459 TT 1 1 0 + 11 60 413 0 0 24.343151 418 60 14991 700 ENST00000359415.4 0.025641 1 ARCN1 372 __UNKNOWN__ __UNKNOWN__ 11 118472354 118472354 __UNKNOWN__ 3'UTR SNP C C A rs10892245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118472354C>A ENST00000359415.4 + 0 2749 ARCN1_ENST00000264028.4_3'UTR|ARCN1_ENST00000534182.2_Missense_Mutation_p.R55S P48444 COPD_HUMAN archain 1 NA NA adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTAAAAGATACGCATGTCTTC 0.398 NA A||| 1401 0.279752 0.205 0.0821 5008 , , NA 18644 0.5804 NA 0.1372 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X81197 CCDS8400.1, CCDS44749.1 11q23.3 2010-04-21 2003-01-29 ENSG00000095139 ENSG00000095139 372 649 protein-coding gene gene with protein product 600820 coatomer protein complex, subunit delta COPD NA 7782067, 8854871 Standard NM_001655 NA Approved uc001ptq.3 P48444 OTTHUMG00000166340 ENST00000359415.4:c.*925C>A chr11.hg19:g.118472354C>A NA B4E1X2|E9PEU4|Q52M80 hg19 0.02 36.800277 ATAxGCA COVERED 531 0.24313186813186813 94 0.1910569105691057 32 0.08839779005524862 301 0.5262237762237763 104 0.13720316622691292 A 9.943 1.218067 0.22373 . . ENSG00000095139 ENST00000534182 . . . 4.81 2.45 0.29901 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 D 0.89917 1.0 D 0.91635 0.999 T 0.48175 -0.9058 6 0.87932 D 0 . 5.2633 0.15586 0.553:0.3545:0.0926:0.0 rs10892245;rs58452625;rs10892245 55 E9PK34 . S 55 . ENSP00000431676:R55S R + 1 0 ARCN1 117977564 0.001000 0.12720 0.000000 0.03702 0.016000 0.09150 0.549000 0.23329 0.036000 0.15547 -0.976000 0.02587 CGC NOVEL ARCN1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389275.1 9 70.422068 KEEP 0 0 0 234 8032 CC 1 1 0 + 25 60 932 0 0 55.680551 864 60 30529 1333 ENST00000359415.4 0.028121 1 ARCN1 372 __UNKNOWN__ __UNKNOWN__ 11 118473231 118473231 __UNKNOWN__ 3'UTR SNP T T C rs1047079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118473231T>C ENST00000359415.4 + 0 3626 ARCN1_ENST00000264028.4_3'UTR|ARCN1_ENST00000534182.2_3'UTR P48444 COPD_HUMAN archain 1 NA NA adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1) 13 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CTGCAAAGAGTGTACTGTGCT 0.493 NA T||| 1098 0.219249 0.0106 0.0562 5008 , , NA 20388 0.5694 NA 0.1322 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 T , 46,1338 1,44,647 109 93 98 , -2.4 0 11 dbSNP_86 98 398,2784 23,352,1216 no utr-3,utr-3 ARCN1 NM_001142281.1,NM_001655.4 , 24,396,1863 CC,CT,TT 12.5079,3.3237,9.724 , , 118473231 444,4122 692 1591 2283 SO:0001624 3_prime_UTR_variant X81197 CCDS8400.1, CCDS44749.1 11q23.3 2010-04-21 2003-01-29 ENSG00000095139 ENSG00000095139 372 649 protein-coding gene gene with protein product 600820 coatomer protein complex, subunit delta COPD NA 7782067, 8854871 Standard NM_001655 NA Approved uc001ptq.3 P48444 OTTHUMG00000166340 ENST00000359415.4:c.*1802T>C chr11.hg19:g.118473231T>C NA B4E1X2|E9PEU4|Q52M80 hg19 0.02 4.830889 GAGxGTA COVERED NOVEL ARCN1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389275.1 0 18.935818 KEEP 0 0 0 63 1896 TT 1 0.999999 0 + 6 60 227 0 0 15.243087 113 60 3952 222 ENST00000359415.4 0.05042 0.999999 PHLDB1 23187 __UNKNOWN__ __UNKNOWN__ 11 118512162 118512162 __UNKNOWN__ Intron SNP G G A rs570836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118512162G>A ENST00000361417.2 + 14 3147 PHLDB1_ENST00000356063.5_Intron|PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000527898.1_Intron NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 NA NA breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGAGGGGCACGCCTTCTGCTC 0.577 NA G||| 1553 0.310104 0.2564 0.4841 5008 , , NA 17914 0.3839 NA 0.3201 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8401.1, CCDS44750.1 11q23.3 2013-01-10 ENSG00000019144 ENSG00000019144 23187 Pleckstrin homology (PH) domain containing 23697 protein-coding gene gene with protein product 612834 NA 14532993 Standard NM_015157 NM_015157 NA Approved FLJ00141, LL5a, KIAA0638 uc001pts.3 Q86UU1 OTTHUMG00000166341 ENST00000361417.2:c.2737-810G>A chr11.hg19:g.118512162G>A NA B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2 hg19 CCDS8401.1 0.02 6.575712 CACxCCT COVERED NOVEL PHLDB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389279.1 1 5.416237 KEEP 0 0 0 18 568 GG 0.999859 0.999859 0 + 8 60 294 0 0 18.991928 173 60 5512 206 ENST00000361417.2 0.044199 1 TREH 11181 __UNKNOWN__ __UNKNOWN__ 11 118529595 118529595 __UNKNOWN__ Intron SNP A A G rs745663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118529595A>G ENST00000529101.1 - 13 1591 TREH_ENST00000525958.1_Intron|TREH_ENST00000264029.4_Intron|TREH_ENST00000397925.1_Intron|TREH_ENST00000530256.1_Intron O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) NA NA carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991) anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) alpha,alpha-trehalase activity (GO:0004555) NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) GGGTGCAGGGAGGGCTTGGGC 0.587 NA A||| 1530 0.305511 0.236 0.4856 5008 , , NA 18680 0.3879 NA 0.3191 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 A 859,3281 108,643,1319 66 72 70 -9.3 0 11 dbSNP_86 70 2635,5739 430,1775,1982 no intron TREH NM_007180.2 538,2418,3301 GG,GA,AA 31.4664,20.7488,27.9207 118529595 3494,9020 2070 4187 6257 SO:0001627 intron_variant AB000824 CCDS73401.1, CCDS73402.1 11q23.3 2008-07-21 ENSG00000118094 11181 3.2.1.28 12266 protein-coding gene gene with protein product alpha,alpha-trehalase, alpha,alpha-trehalose glucohydrolase 275360 NA 9427547 Standard NM_007180 NM_007180 NA Approved TRE, TREA, MGC129621 uc001pty.1 O43280 ENST00000529101.1:c.1545+18T>C chr11.hg19:g.118529595A>G NA Q32MB9|Q53FY8 hg19 0.02 8.79483 GGGxGGG COVERED NOVEL TREH-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000389639.1 2 33.971792 KEEP 0 0 0 113 3517 AA 1 1 0 - 12 60 394 0 0 24.75319 234 60 8489 460 ENST00000529101.1 0.04878 1 TREH 11181 __UNKNOWN__ __UNKNOWN__ 11 118529703 118529703 __UNKNOWN__ Missense_Mutation SNP G G A rs2276064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118529703G>A ENST00000529101.1 - 13 1501 c.1456C>T c.(1456-1458)Cgg>Tgg p.R486W TREH_ENST00000525958.1_Missense_Mutation_p.R455W|TREH_ENST00000264029.4_Missense_Mutation_p.R486W|TREH_ENST00000397925.1_Missense_Mutation_p.R455W|TREH_ENST00000530256.1_Missense_Mutation_p.R363W O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 486 NA R -> W (in dbSNP:rs2276064). carbohydrate metabolic process (GO:0005975)|organ morphogenesis (GO:0009887)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|trehalose catabolic process (GO:0005993)|trehalose metabolic process (GO:0005991) anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) alpha,alpha-trehalase activity (GO:0004555) NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) TCCTGGGCCCGACGTAAAGGT 0.572 NA OREG0021385 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 566 0.113019 0.0023 0.1427 5008 , , NA 19549 0.3879 NA 0.0179 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 G TRP/ARG 22,3974 0,22,1976 92 97 95 1456 2.4 0 11 dbSNP_100 95 152,8172 7,138,4017 yes missense TREH NM_007180.2 101 7,160,5993 AA,AG,GG 1.826,0.5506,1.4123 benign 486/584 118529703 174,12146 1998 4162 6160 SO:0001583 missense AB000824 CCDS73401.1, CCDS73402.1 11q23.3 2008-07-21 ENSG00000118094 11181 3.2.1.28 12266 protein-coding gene gene with protein product alpha,alpha-trehalase, alpha,alpha-trehalose glucohydrolase 275360 NA 9427547 Standard NM_007180 NM_007180 NA Approved TRE, TREA, MGC129621 uc001pty.1 O43280 ENST00000529101.1:c.1456C>T chr11.hg19:g.118529703G>A ENSP00000435095:p.Arg486Trp 1489 Q32MB9|Q53FY8 hg19 0.02 4.095013 CCCxACG COVERED 294 0.1346153846153846 1 0.0020325203252032522 28 0.07734806629834254 250 0.4370629370629371 15 0.01978891820580475 G 9.970 1.225243 0.22457 0.005506 0.01826 ENSG00000118094 ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925 T;T;T;T;T 0.43294 0.95;0.95;0.95;0.95;0.95 5.3 2.39 0.29439 Six-hairpin glycosidase-like (1); 0.787320 0.12218 N 0.488671 T 0.00012 0.0000 . . . 0.80722 P 0.0 D;B;B 0.71674 0.998;0.133;0.076 P;B;B 0.57911 0.829;0.052;0.035 T 0.42531 -0.9446 8 0.54805 T 0.06 -24.099 7.7535 0.28911 0.0747:0.0:0.4959:0.4295 rs2276064;rs2276064 455;363;486 E9PNA2;E9PPK1;O43280 .;.;TREA_HUMAN W 486;363;486;363;455;455 ENSP00000435095:R486W;ENSP00000432640:R363W;ENSP00000264029:R486W;ENSP00000432853:R455W;ENSP00000381020:R455W ENSP00000264029:R486W R - 1 2 TREH 118034913 0.000000 0.05858 0.000000 0.03702 0.420000 0.31355 0.209000 0.17435 0.353000 0.24079 -0.119000 0.15052 CGG NOVEL TREH-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000389639.1 0 22.872241 KEEP 0 0 0 76 2590 GG 1 1 0 - 6 60 226 0 0 14.598167 140 60 5004 286 ENST00000529101.1 0.041096 1 CXCR5 643 __UNKNOWN__ __UNKNOWN__ 11 118765267 118765267 __UNKNOWN__ Silent SNP G G C rs598207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118765267G>C ENST00000292174.4 + 2 1190 c.1014G>C c.(1012-1014)acG>acC p.T338T BCL9L_ENST00000334801.3_3'UTR NM_001716.4|NM_032966.2 NP_001707.1|NP_116743.1 P32302 CXCR5_HUMAN chemokine (C-X-C motif) receptor 5 338 NA B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) GGCTCCTGACGAAGCTGGGCT 0.627 NA C||| 1611 0.321685 0.4992 0.4366 5008 , , NA 20978 0.2212 NA 0.2714 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C , 1982,2418 615.4+/-392.6 452,1078,670 60 55 57 1014,879 3.2 1 11 dbSNP_83 57 2306,6284 704.3+/-405.4 324,1658,2313 no coding-synonymous,coding-synonymous CXCR5 NM_001716.4,NM_032966.2 , 776,2736,2983 CC,CG,GG 26.8452,45.0455,33.01 , 338/373,293/328 118765267 4288,8702 2200 4295 6495 SO:0001819 synonymous_variant X68829 CCDS8402.1 11q23.3 2012-08-08 2008-01-22 2008-01-22 ENSG00000160683 ENSG00000160683 643 CD molecules, GPCR / Class A : Chemokine receptors : C-X-C motif 1060 protein-coding gene gene with protein product 601613 Burkitt lymphoma receptor 1, GTP-binding protein, Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) BLR1 NA 1425907 Standard NM_001716 NM_001716 NA Approved MDR15, CD185 uc001pue.4 P32302 OTTHUMG00000166345 ENST00000292174.4:c.1014G>C chr11.hg19:g.118765267G>C NA Q14811 hg19 CCDS8402.1 0.02 21.324388 GACxAAG COVERED NOVEL CXCR5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389309.1 3 39.722382 KEEP 0 0 0 132 4532 GG 1 1 0 + 13 60 512 0 0 31.396985 473 60 17373 751 ENST00000292174.4 0.026749 1 BCL9L 283149 __UNKNOWN__ __UNKNOWN__ 11 118772516 118772516 __UNKNOWN__ 5'UTR SNP T T C rs34752197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118772516T>C ENST00000526143.1 - 0 2280 BCL9L_ENST00000334801.3_Missense_Mutation_p.M646V Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGTCCCCCCATAGGGGGCAAG 0.627 NA T||| 168 0.0335463 0.003 0.0058 5008 , , NA 19164 0.1369 NA 0.008 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 T VAL/MET 19,4381 26.2+/-53.5 0,19,2181 40 40 40 1936 3.4 1 11 dbSNP_126 40 62,8528 38.3+/-94.2 0,62,4233 yes missense BCL9L NM_182557.2 21 0,81,6414 CC,CT,TT 0.7218,0.4318,0.6236 benign 646/1500 118772516 81,12909 2200 4295 6495 SO:0001623 5_prime_UTR_variant AB094091 CCDS8403.1 11q23.3 2012-06-06 ENSG00000186174 283149 23688 protein-coding gene gene with protein product 609004 NA 12964048 Standard NM_182557 NM_182557 NA Approved DLNB11 uc001pug.3 Q86UU0 ENST00000526143.1:c.-3234A>G chr11.hg19:g.118772516T>C NA A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2 hg19 0.02 10.969482 CCAxAGG COVERED 78 0.03571428571428571 3 0.006097560975609756 3 0.008287292817679558 65 0.11363636363636363 7 0.009234828496042216 T 6.493 0.459141 0.12342 0.004318 0.007218 ENSG00000186174 ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085 T 0.63744 -0.06 4.59 3.43 0.39272 . 0.124256 0.35466 U 0.003200 T 0.01254 0.0041 L 0.36672 1.1 0.32929 D 0.516915 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.11966 -1.0566 10 0.31617 T 0.26 -1.9811 10.1896 0.43019 0.1494:0.0:0.0:0.8506 rs34752197 641;646 Q86UU0-2;Q86UU0 .;BCL9L_HUMAN V 646;609;646;646 ENSP00000335320:M646V ENSP00000335320:M646V M - 1 0 BCL9L 118277726 1.000000 0.71417 0.982000 0.44146 0.924000 0.55760 3.553000 0.53713 0.760000 0.33108 0.260000 0.18958 ATG NOVEL BCL9L-002 KNOWN not_organism_supported|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000389654.2 2 14.439355 KEEP 0 0 0 48 1437 TT 1 1 0 - 8 60 293 0 0 17.628746 251 60 8730 352 ENST00000526143.1 0.030888 1 BCL9L 283149 __UNKNOWN__ __UNKNOWN__ 11 118772825 118772825 __UNKNOWN__ 5'UTR SNP T T C rs78780803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118772825T>C ENST00000526143.1 - 0 1971 BCL9L_ENST00000334801.3_Missense_Mutation_p.S543G Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AGAGGACGGCTCCCATGCAGC 0.627 NA C||| 222 0.0443291 0.0439 0.0058 5008 , , NA 15255 0.1369 NA 0.008 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 C GLY/SER 163,4237 807.0+/-415.9 3,157,2040 82 85 84 1627 4.6 1 11 dbSNP_131 84 63,8527 813.1+/-407.0 0,63,4232 yes missense BCL9L NM_182557.2 56 3,220,6272 CC,CT,TT 0.7334,3.7045,1.7398 benign 543/1500 118772825 226,12764 2200 4295 6495 SO:0001623 5_prime_UTR_variant AB094091 CCDS8403.1 11q23.3 2012-06-06 ENSG00000186174 283149 23688 protein-coding gene gene with protein product 609004 NA 12964048 Standard NM_182557 NM_182557 NA Approved DLNB11 uc001pug.3 Q86UU0 ENST00000526143.1:c.-3543A>G chr11.hg19:g.118772825T>C NA A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2 hg19 0.02 34.231108 GGCxCCC COVERED 96 0.04395604395604396 21 0.042682926829268296 3 0.008287292817679558 65 0.11363636363636363 7 0.009234828496042216 C 0.164 -1.078137 0.01903 0.037045 0.007334 ENSG00000186174 ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085 T 0.63255 -0.03 4.62 4.62 0.57501 . 0.000000 0.37393 N 0.002105 T 0.00666 0.0022 N 0.03608 -0.345 0.19300 N 0.99997 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.02184 -1.1199 10 0.15499 T 0.54 -6.8149 8.5189 0.33264 0.0:0.819:0.0:0.181 . 538;543 Q86UU0-2;Q86UU0 .;BCL9L_HUMAN G 543;506;543;543 ENSP00000335320:S543G ENSP00000335320:S543G S - 1 0 BCL9L 118278035 0.225000 0.23685 0.994000 0.49952 0.534000 0.34807 1.786000 0.38694 1.189000 0.43028 -0.642000 0.03964 AGC NOVEL BCL9L-002 KNOWN not_organism_supported|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000389654.2 1 40.607809 KEEP 0 0 0 135 4186 TT 1 1 0 - 34 60 1276 0 0 84.183318 695 60 24859 1034 ENST00000526143.1 0.046639 1 HYOU1 10525 __UNKNOWN__ __UNKNOWN__ 11 118919206 118919206 __UNKNOWN__ Silent SNP T T C rs568922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118919206T>C ENST00000525859.1 - 19 2309 c.2049A>G c.(2047-2049)gcA>gcG p.A683A HYOU1_ENST00000529972.1_Silent_p.A683A|HYOU1_ENST00000404233.3_Silent_p.A745A|HYOU1_ENST00000543287.1_3'UTR Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 745 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950) endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) ATP binding (GO:0005524) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CAAATATGAATGCTTCCAAGC 0.582 NA C||| 4026 0.803914 0.6694 0.6196 5008 , , NA 20653 0.9454 NA 0.841 False NA ,,, NA NA NA 2504 0.9325 NA NA NA NA 0 C , 2981,1419 464.0+/-353.7 1011,959,230 110 92 98 2235,2235 -8.7 0.5 11 dbSNP_83 98 7341,1249 251.2+/-277.8 3142,1057,96 no coding-synonymous,coding-synonymous HYOU1 NM_001130991.1,NM_006389.3 , 4153,2016,326 CC,CT,TT 14.5402,32.25,20.5389 , 745/1000,745/1000 118919206 10322,2668 2200 4295 6495 SO:0001819 synonymous_variant U65785 CCDS8408.1 11q23.1-q23.3 2011-09-02 ENSG00000149428 ENSG00000149428 10525 Heat shock proteins / HSP70 16931 protein-coding gene gene with protein product glucose-regulated protein 170 601746 NA 9020069, 10037731 Standard NM_006389 XM_005271390 NA Approved ORP150, HSP12A, Grp170 uc001pux.3 Q9Y4L1 OTTHUMG00000166354 ENST00000525859.1:c.2049A>G chr11.hg19:g.118919206T>C NA A8C1Z0|B7Z909|Q2I204|Q53H25 hg19 0.02 4.386044 GAAxGCT COVERED NOVEL HYOU1-005 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389359.1 2 12.911029 KEEP 0 0 0 43 1291 TT 1 1 0 - 16 60 551 0 0 40.780175 131 60 4723 238 ENST00000525859.1 0.108844 1 HYOU1 10525 __UNKNOWN__ __UNKNOWN__ 11 118920453 118920453 __UNKNOWN__ Intron SNP T T C rs673768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118920453T>C ENST00000525859.1 - 16 1987 HYOU1_ENST00000529972.1_Intron|HYOU1_ENST00000404233.3_Intron|HYOU1_ENST00000543287.1_Intron Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950) endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) ATP binding (GO:0005524) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CACACAAGTATATTCTCTCCC 0.498 NA C||| 4489 0.896366 0.9841 0.6772 5008 , , NA 22350 0.9454 NA 0.8479 False NA ,,, NA NA NA 2504 0.9325 NA NA NA NA 0 C , 4217,183 118.8+/-156.5 2020,177,3 295 268 277 , -8.8 0 11 dbSNP_83 277 7369,1221 247.1+/-275.3 3165,1039,91 no intron,intron HYOU1 NM_001130991.1,NM_006389.3 , 5185,1216,94 CC,CT,TT 14.2142,4.1591,10.8083 , , 118920453 11586,1404 2200 4295 6495 SO:0001627 intron_variant U65785 CCDS8408.1 11q23.1-q23.3 2011-09-02 ENSG00000149428 ENSG00000149428 10525 Heat shock proteins / HSP70 16931 protein-coding gene gene with protein product glucose-regulated protein 170 601746 NA 9020069, 10037731 Standard NM_006389 XM_005271390 NA Approved ORP150, HSP12A, Grp170 uc001pux.3 Q9Y4L1 OTTHUMG00000166354 ENST00000525859.1:c.1726+35A>G chr11.hg19:g.118920453T>C NA A8C1Z0|B7Z909|Q2I204|Q53H25 hg19 0.02 9.579509 GTAxATT COVERED NOVEL HYOU1-005 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389359.1 1 8.126734 KEEP 0 3 106 64 1944 TT 1 1 0 - 14 60 534 0 0 37.01471 222 60 8041 390 ENST00000525859.1 0.059322 1 HYOU1 10525 __UNKNOWN__ __UNKNOWN__ 11 118922200 118922200 __UNKNOWN__ Silent SNP G G A rs1804690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118922200G>A ENST00000525859.1 - 14 1736 c.1476C>T c.(1474-1476)aaC>aaT p.N492N HYOU1_ENST00000529972.1_Silent_p.N492N|HYOU1_ENST00000404233.3_Silent_p.N492N|HYOU1_ENST00000543287.1_Silent_p.N405N Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 492 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950) endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) ATP binding (GO:0005524) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) TGATGTGGAAGTTGAAATCAT 0.572 NA G||| 810 0.161741 0.0787 0.0562 5008 , , NA 17596 0.2986 NA 0.1133 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 G , 270,4130 152.2+/-185.9 8,254,1938 177 160 166 1476,1476 2.2 1 11 dbSNP_89 166 849,7741 193.5+/-239.2 47,755,3493 no coding-synonymous,coding-synonymous HYOU1 NM_001130991.1,NM_006389.3 , 55,1009,5431 AA,AG,GG 9.8836,6.1364,8.6143 , 492/1000,492/1000 118922200 1119,11871 2200 4295 6495 SO:0001819 synonymous_variant U65785 CCDS8408.1 11q23.1-q23.3 2011-09-02 ENSG00000149428 ENSG00000149428 10525 Heat shock proteins / HSP70 16931 protein-coding gene gene with protein product glucose-regulated protein 170 601746 NA 9020069, 10037731 Standard NM_006389 XM_005271390 NA Approved ORP150, HSP12A, Grp170 uc001pux.3 Q9Y4L1 OTTHUMG00000166354 ENST00000525859.1:c.1476C>T chr11.hg19:g.118922200G>A NA A8C1Z0|B7Z909|Q2I204|Q53H25 hg19 0.02 7.627851 GAAxTTG COVERED NOVEL HYOU1-005 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389359.1 1 16.855189 KEEP 0 0 0 56 2041 GG 1 1 0 - 7 60 248 0 0 14.526229 224 60 8281 338 ENST00000525859.1 0.030303 1 HYOU1 10525 __UNKNOWN__ __UNKNOWN__ 11 118926720 118926720 __UNKNOWN__ Intron SNP A A C rs470679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118926720A>C ENST00000525859.1 - 3 352 HYOU1_ENST00000529972.1_Intron|HYOU1_ENST00000404233.3_Intron|HYOU1_ENST00000543287.1_Intron Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950) endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020) ATP binding (GO:0005524) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2) 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) CCCAAGCTCAATTCCCATCAT 0.483 NA OREG0021394 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 4502 0.898962 0.9932 0.6787 5008 , , NA 20811 0.9454 NA 0.8479 False NA ,,, NA NA NA 2504 0.9325 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U65785 CCDS8408.1 11q23.1-q23.3 2011-09-02 ENSG00000149428 ENSG00000149428 10525 Heat shock proteins / HSP70 16931 protein-coding gene gene with protein product glucose-regulated protein 170 601746 NA 9020069, 10037731 Standard NM_006389 XM_005271390 NA Approved ORP150, HSP12A, Grp170 uc001pux.3 Q9Y4L1 OTTHUMG00000166354 ENST00000525859.1:c.91+61T>G chr11.hg19:g.118926720A>C 1492 A8C1Z0|B7Z909|Q2I204|Q53H25 hg19 0.02 2.40333 TCAxTTC COVERED NOVEL HYOU1-005 NOVEL alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000389359.1 2 5.851312 KEEP 0 1 39 33 988 AA 0.999998 0.998991 0 - 7 60 275 0 0 20.614505 71 60 2479 118 ENST00000525859.1 0.089744 0.998993 VPS11 55823 __UNKNOWN__ __UNKNOWN__ 11 118940957 118940957 __UNKNOWN__ 3'UTR SNP C C G rs1784302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118940957C>G ENST00000527798.1 + 0 703 VPS11_ENST00000300793.6_Silent_p.G161G Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) TCACAGATGGCAGTGTTACAT 0.458 NA C||| 1919 0.383187 0.5408 0.3487 5008 , , NA 15089 0.2143 NA 0.3598 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 C 1861,1907 450,961,473 49 49 49 485 3.4 1 11 dbSNP_89 49 3366,4850 692,1982,1434 yes coding-synonymous VPS11 NM_021729.4 1142,2943,1907 GG,GC,CC 40.9688,49.3896,43.6165 162/942 118940957 5227,6757 1884 4108 5992 SO:0001624 3_prime_UTR_variant AB027508 CCDS73404.1 11q23 2008-02-05 2006-12-19 ENSG00000160695 55823 RING-type (C3HC4) zinc fingers 14583 protein-coding gene gene with protein product 608549 vacuolar protein sorting 11 (yeast homolog) NA Standard NM_021729 NM_021729 NA Approved RNF108, PEP5 uc010ryx.2 Q9H270 ENST00000527798.1:c.*700C>G chr11.hg19:g.118940957C>G NA Q8WY89|Q96EP8|Q9H6D9|Q9HCS6 hg19 0.02 8.703042 TGGxAGT COVERED NOVEL VPS11-002 KNOWN alternative_5_UTR|basic processed_transcript NA protein_coding OTTHUMT00000389380.1 0 28.265213 KEEP 0 0 0 94 3367 CC 1 1 0 + 9 60 334 0 0 20.953446 236 60 8924 431 ENST00000527798.1 0.036735 1 VPS11 55823 __UNKNOWN__ __UNKNOWN__ 11 118947634 118947634 __UNKNOWN__ 3'UTR SNP C C T rs540261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118947634C>T ENST00000527798.1 + 0 1483 VPS11_ENST00000300793.6_Silent_p.Y421Y Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) AGCCATCCTACGTGATCCGCA 0.532 NA C||| 2163 0.431909 0.202 0.2954 5008 , , NA 19922 0.7192 NA 0.4811 False NA ,,, NA NA NA 2504 0.4928 NA NA NA NA 0 C 1011,3225 127,757,1234 81 87 85 1265 -5.8 0.9 11 dbSNP_83 85 3671,4775 814,2043,1366 yes coding-synonymous VPS11 NM_021729.4 941,2800,2600 TT,TC,CC 43.4644,23.8669,36.9185 422/942 118947634 4682,8000 2118 4223 6341 SO:0001624 3_prime_UTR_variant AB027508 CCDS73404.1 11q23 2008-02-05 2006-12-19 ENSG00000160695 55823 RING-type (C3HC4) zinc fingers 14583 protein-coding gene gene with protein product 608549 vacuolar protein sorting 11 (yeast homolog) NA Standard NM_021729 NM_021729 NA Approved RNF108, PEP5 uc010ryx.2 Q9H270 ENST00000527798.1:c.*1480C>T chr11.hg19:g.118947634C>T NA Q8WY89|Q96EP8|Q9H6D9|Q9HCS6 hg19 0.02 14.965445 CTAxGTG COVERED NOVEL VPS11-002 KNOWN alternative_5_UTR|basic processed_transcript NA protein_coding OTTHUMT00000389380.1 3 20.268096 KEEP 0 3 96 101 3431 CC 1 1 0 + 15 60 528 0 0 32.514954 367 60 13159 574 ENST00000527798.1 0.039267 1 VPS11 55823 __UNKNOWN__ __UNKNOWN__ 11 118949331 118949331 __UNKNOWN__ 3'UTR SNP C C T rs1177562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118949331C>T ENST00000527798.1 + 0 2197 VPS11_ENST00000300793.6_Silent_p.C659C Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) GTCGCTTCTGCGACGTCTTTG 0.532 NA C||| 1697 0.338858 0.3797 0.3242 5008 , , NA 21536 0.2153 NA 0.3618 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 C 1406,2522 243,920,801 54 54 54 1979 0 0.1 11 dbSNP_87 54 3450,4864 716,2018,1423 yes coding-synonymous VPS11 NM_021729.4 959,2938,2224 TT,TC,CC 41.4963,35.7943,39.6667 660/942 118949331 4856,7386 1964 4157 6121 SO:0001624 3_prime_UTR_variant AB027508 CCDS73404.1 11q23 2008-02-05 2006-12-19 ENSG00000160695 55823 RING-type (C3HC4) zinc fingers 14583 protein-coding gene gene with protein product 608549 vacuolar protein sorting 11 (yeast homolog) NA Standard NM_021729 NM_021729 NA Approved RNF108, PEP5 uc010ryx.2 Q9H270 ENST00000527798.1:c.*2194C>T chr11.hg19:g.118949331C>T NA Q8WY89|Q96EP8|Q9H6D9|Q9HCS6 hg19 0.02 6.260135 CTGxGAC COVERED NOVEL VPS11-002 KNOWN alternative_5_UTR|basic processed_transcript NA protein_coding OTTHUMT00000389380.1 0 13.542644 KEEP 0 0 0 45 1521 CC 1 1 0 + 7 60 245 0 0 14.950269 176 60 6213 252 ENST00000527798.1 0.038251 1 VPS11 55823 __UNKNOWN__ __UNKNOWN__ 11 118952173 118952173 __UNKNOWN__ 3'UTR SNP A A G rs15818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118952173A>G ENST00000527798.1 + 0 2883 VPS11_ENST00000300793.6_Missense_Mutation_p.K888R Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765) nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CTGCAGCTCAAGTGCTCCAAT 0.473 NA A||| 1776 0.354633 0.4841 0.3343 5008 , , NA 22871 0.2044 NA 0.3618 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 A ARG/LYS 1865,2143 468,929,607 122 129 127 2665 5.7 1 11 dbSNP_52 127 3431,4911 721,1989,1461 yes missense VPS11 NM_021729.4 26 1189,2918,2068 GG,GA,AA 41.1292,46.5319,42.8826 benign 889/942 118952173 5296,7054 2004 4171 6175 SO:0001624 3_prime_UTR_variant AB027508 CCDS73404.1 11q23 2008-02-05 2006-12-19 ENSG00000160695 55823 RING-type (C3HC4) zinc fingers 14583 protein-coding gene gene with protein product 608549 vacuolar protein sorting 11 (yeast homolog) NA Standard NM_021729 NM_021729 NA Approved RNF108, PEP5 uc010ryx.2 Q9H270 ENST00000527798.1:c.*2880A>G chr11.hg19:g.118952173A>G NA Q8WY89|Q96EP8|Q9H6D9|Q9HCS6 hg19 0.02 13.807822 TCAxGTG COVERED NOVEL VPS11-002 KNOWN alternative_5_UTR|basic processed_transcript NA protein_coding OTTHUMT00000389380.1 1 24.713307 KEEP 0 1 37 95 3121 AA 1 1 0 + 14 60 534 0 0 34.685289 329 60 12100 567 ENST00000527798.1 0.040816 1 HMBS 3145 __UNKNOWN__ __UNKNOWN__ 11 118955679 118955679 __UNKNOWN__ 5'UTR SNP C C T rs589925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118955679C>T ENST00000278715.3 + 0 87 HMBS_ENST00000543090.1_5'UTR|HMBS_ENST00000442944.2_5'UTR|HMBS_ENST00000544387.1_5'UTR|HMBS_ENST00000537841.1_5'UTR|HMBS_ENST00000542729.1_5'UTR NM_000190.3 NP_000181.2 P08397 HEM3_HUMAN hydroxymethylbilane synthase NA NA heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) hydroxymethylbilane synthase activity (GO:0004418) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) GGCCGGAGCCCCCGGCTTCCC 0.692 NA C||| 2024 0.404153 0.112 0.2795 5008 , , NA 13383 0.7063 NA 0.4712 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 C 220,1154 23,174,490 7 9 9 -7.2 0 11 dbSNP_83 9 1318,1822 306,706,558 no utr-5 HMBS NM_000190.3 329,880,1048 TT,TC,CC 41.9745,16.0116,34.0718 118955679 1538,2976 687 1570 2257 SO:0001623 5_prime_UTR_variant X04808 CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1 11q23.3 2013-07-10 ENSG00000256269 ENSG00000256269 3145 2.5.1.61 4982 protein-coding gene gene with protein product 609806 uroporphyrinogen I synthase, porphobilinogen deaminase, porphyria, acute; Chester type PBGD, UPS, PORC NA 8432552, 17298217 Standard NM_000190 NM_001258208 NA Approved uc001puz.1 P08397 OTTHUMG00000168295 ENST00000278715.3:c.-65C>T chr11.hg19:g.118955679C>T NA A8K2L0|G3V1P4|G5EA58|P08396|Q16012 hg19 CCDS8409.1 0.02 19.866084 GCCxCCG COVERED NOVEL HMBS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399188.1 3 67.824759 KEEP 0 6 187 291 10315 CC 1 1 0 + 21 60 765 0 0 49.500764 438 60 16298 985 ENST00000278715.3 0.045752 1 C2CD2L 9854 __UNKNOWN__ __UNKNOWN__ 11 118983434 118983434 __UNKNOWN__ Missense_Mutation SNP C C T rs2239896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118983434C>T ENST00000528586.1 + 6 551 c.481C>T c.(481-483)Cgg>Tgg p.R161W C2CD2L_ENST00000336702.3_Missense_Mutation_p.R413W O14523 C2C2L_HUMAN C2CD2-like 413 NA integral component of membrane (GO:0016021) NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 GGGCTCTCCCCGGAACCTGGG 0.612 NA C||| 611 0.122005 0.0015 0.0504 5008 , , NA 16790 0.1667 NA 0.0636 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C TRP/ARG 44,4356 48.2+/-83.0 0,44,2156 75 62 67 1237 2.1 1 11 dbSNP_98 67 495,8095 142.0+/-198.3 22,451,3822 yes missense C2CD2L NM_014807.3 101 22,495,5978 TT,TC,CC 5.7625,1.0,4.1493 benign 413/708 118983434 539,12451 2200 4295 6495 SO:0001583 missense AK025223 CCDS8413.1 11q23.3 2008-04-22 2008-04-22 2008-04-22 ENSG00000172375 9854 29000 protein-coding gene gene with protein product transmembrane protein 24 TMEM24 NA 15289880 Standard NM_014807 XM_005271738 NA Approved KIAA0285 uc001pvn.3 O14523 ENST00000528586.1:c.481C>T chr11.hg19:g.118983434C>T ENSP00000433600:p.Arg161Trp NA Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10 hg19 0.02 11.184678 CCCxGGA COVERED 140 0.0641025641025641 1 0.0020325203252032522 21 0.058011049723756904 74 0.12937062937062938 44 0.05804749340369393 C 17.55 3.418040 0.62622 0.01 0.057625 ENSG00000172375 ENST00000336702;ENST00000528586 T;T 0.44482 0.92;0.92 5.23 2.07 0.26955 C2 calcium/lipid-binding domain, CaLB (1); 0.452533 0.25222 N 0.032238 T 0.00300 0.0009 N 0.22421 0.69 0.29283 P 0.869904 P;P 0.47350 0.894;0.894 B;B 0.43052 0.406;0.406 T 0.07083 -1.0791 9 0.66056 D 0.02 -10.2319 8.5985 0.33729 0.1414:0.4368:0.4218:0.0 rs2239896;rs60784388;rs2239896 413;413 O14523;O14523-2 C2C2L_HUMAN;. W 413;161 ENSP00000338885:R413W;ENSP00000433600:R161W ENSP00000338885:R413W R + 1 2 C2CD2L 118488644 0.635000 0.27199 0.998000 0.56505 0.815000 0.46073 0.259000 0.18405 0.716000 0.32124 0.650000 0.86243 CGG NOVEL C2CD2L-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388199.2 0 20.19555 KEEP 0 1 22 75 2540 CC 1 1 0 + 9 60 337 0 0 21.060753 248 60 8845 429 ENST00000528586.1 0.035019 1 C2CD2L 9854 __UNKNOWN__ __UNKNOWN__ 11 118986972 118986972 __UNKNOWN__ 3'UTR SNP C C T rs3741333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:118986972C>T ENST00000528586.1 + 0 1461 C2CD2L_ENST00000336702.3_3'UTR O14523 C2C2L_HUMAN C2CD2-like NA NA integral component of membrane (GO:0016021) NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 TCTGAGGACCCAGCTCTGAAA 0.582 NA C||| 744 0.148562 0.0991 0.062 5008 , , NA 17052 0.1667 NA 0.0636 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 C 434,3966 211.8+/-231.9 16,402,1782 63 65 64 -0.6 0 11 dbSNP_107 64 495,8095 142.3+/-198.5 21,453,3821 no utr-3 C2CD2L NM_014807.3 37,855,5603 TT,TC,CC 5.7625,9.8636,7.1517 118986972 929,12061 2200 4295 6495 SO:0001624 3_prime_UTR_variant AK025223 CCDS8413.1 11q23.3 2008-04-22 2008-04-22 2008-04-22 ENSG00000172375 9854 29000 protein-coding gene gene with protein product transmembrane protein 24 TMEM24 NA 15289880 Standard NM_014807 XM_005271738 NA Approved KIAA0285 uc001pvn.3 O14523 ENST00000528586.1:c.*215C>T chr11.hg19:g.118986972C>T NA Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10 hg19 0.02 19.627363 ACCxAGC COVERED NOVEL C2CD2L-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388199.2 4 33.64465 KEEP 0 1 32 123 4400 CC 1 1 0 + 13 60 482 1 0 28.819484 439 60 16787 724 ENST00000528586.1 0.028761 1 HINFP 25988 __UNKNOWN__ __UNKNOWN__ 11 119002768 119002768 __UNKNOWN__ Intron SNP G G T rs73562872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119002768G>T ENST00000527410.1 + 5 710 HINFP_ENST00000350777.2_Intron Q9BQA5 HINFP_HUMAN histone H4 transcription factor NA NA DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TCTAGTGGGGGTGGCCACTGA 0.522 NA G||| 893 0.178315 0.1778 0.0735 5008 , , NA 18849 0.1835 NA 0.0855 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL080201 CCDS8414.1, CCDS58188.1 11q23.3 2013-01-08 2009-01-22 2009-01-22 ENSG00000172273 ENSG00000172273 25988 Zinc fingers, C2H2-type 17850 protein-coding gene gene with protein product histone nuclear factor P 607099 MBD2-interacting zinc finger 1, MBD2-interacting zinc finger MIZF NA 11553631 Standard NM_015517 NM_015517 NA Approved DKFZP434F162, HiNF-P, ZNF743 uc001pvq.3 Q9BQA5 OTTHUMG00000166168 ENST00000527410.1:c.676+76G>T chr11.hg19:g.119002768G>T NA B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7 hg19 CCDS58188.1 0.02 4.053056 GGGxTGG COVERED NOVEL HINFP-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000388205.1 1 10.834827 KEEP 0 0 0 36 1256 GG 0.999999 0.999999 0 + 8 60 283 0 0 19.125233 120 60 4452 186 ENST00000527410.1 0.0625 1 HINFP 25988 __UNKNOWN__ __UNKNOWN__ 11 119005088 119005088 __UNKNOWN__ Silent SNP C C T rs512703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119005088C>T ENST00000350777.2 + 10 1497 c.1434C>T c.(1432-1434)atC>atT p.I478I NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 478 Interaction with NPAT. NA DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGCAAGAGATCGTCTACTATG 0.582 NA OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 4944 0.98722 0.9977 0.9856 5008 , , NA 19542 1.0 NA 0.9622 False NA ,,, NA NA NA 2504 0.9867 NA NA NA NA 0 T , 4371,29 35.2+/-66.4 2171,29,0 94 89 91 1434,1434 -3.3 1 11 dbSNP_83 91 8261,329 115.7+/-175.5 3973,315,7 no coding-synonymous,coding-synonymous HINFP NM_015517.4,NM_198971.2 , 6144,344,7 TT,TC,CC 3.83,0.6591,2.756 , 478/518,478/518 119005088 12632,358 2200 4295 6495 SO:0001819 synonymous_variant AL080201 CCDS8414.1, CCDS58188.1 11q23.3 2013-01-08 2009-01-22 2009-01-22 ENSG00000172273 ENSG00000172273 25988 Zinc fingers, C2H2-type 17850 protein-coding gene gene with protein product histone nuclear factor P 607099 MBD2-interacting zinc finger 1, MBD2-interacting zinc finger MIZF NA 11553631 Standard NM_015517 NM_015517 NA Approved DKFZP434F162, HiNF-P, ZNF743 uc001pvq.3 Q9BQA5 OTTHUMG00000166168 ENST00000350777.2:c.1434C>T chr11.hg19:g.119005088C>T 1492 B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7 hg19 CCDS8414.1 0.02 17.526337 GATxGTC COVERED NOVEL HINFP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388201.2 5 16.319231 KEEP 0 2 62 76 2501 CC 1 1 0 + 24 60 852 0 0 56.584387 407 60 13908 614 ENST00000350777.2 0.055684 1 HINFP 25988 __UNKNOWN__ __UNKNOWN__ 11 119005132 119005132 __UNKNOWN__ Missense_Mutation SNP C C T rs100803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119005132C>T ENST00000350777.2 + 10 1541 c.1478C>T c.(1477-1479)gCc>gTc p.A493V NM_001243259.1|NM_015517.4|NM_198971.2 NP_001230188.1|NP_056332.2|NP_945322.1 Q9BQA5 HINFP_HUMAN histone H4 transcription factor 493 Interaction with NPAT. NA A -> V (in dbSNP:rs100803). {ECO:0000269|PubMed:15489334}. DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CCTCCCCCAGCCCCTGAGCCA 0.562 NA OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2012 0.401757 0.1687 0.2839 5008 , , NA 19450 0.7183 NA 0.4433 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 C VAL/ALA,VAL/ALA 843,3557 330.4+/-301.5 75,693,1432 43 48 46 1478,1478 -0.7 0 11 dbSNP_83 46 3610,4980 518.7+/-379.3 790,2030,1475 yes missense,missense HINFP NM_015517.4,NM_198971.2 64,64 865,2723,2907 TT,TC,CC 42.0256,19.1591,34.2802 benign,benign 493/518,493/518 119005132 4453,8537 2200 4295 6495 SO:0001583 missense AL080201 CCDS8414.1, CCDS58188.1 11q23.3 2013-01-08 2009-01-22 2009-01-22 ENSG00000172273 ENSG00000172273 25988 Zinc fingers, C2H2-type 17850 protein-coding gene gene with protein product histone nuclear factor P 607099 MBD2-interacting zinc finger 1, MBD2-interacting zinc finger MIZF NA 11553631 Standard NM_015517 NM_015517 NA Approved DKFZP434F162, HiNF-P, ZNF743 uc001pvq.3 Q9BQA5 OTTHUMG00000166168 ENST00000350777.2:c.1478C>T chr11.hg19:g.119005132C>T ENSP00000318085:p.Ala493Val 1492 B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7 hg19 CCDS8414.1 0.02 12.45443 CAGxCCC COVERED 966 0.4423076923076923 90 0.18292682926829268 120 0.3314917127071823 422 0.7377622377622378 334 0.44063324538258575 C 5.618 0.298738 0.10622 0.191591 0.420256 ENSG00000172273 ENST00000350777 T 0.10099 2.91 4.9 -0.697 0.11284 . 1.282940 0.05442 N 0.547761 T 0.00012 0.0000 N 0.12182 0.205 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.04013 0.001 T 0.23833 -1.0177 9 0.36615 T 0.2 -0.0432 2.4679 0.04557 0.1403:0.4289:0.2726:0.1583 rs100803;rs753835;rs3741335;rs3889924;rs17844880;rs17856531;rs17857597;rs17857666;rs17858206;rs61095432 493 Q9BQA5 HINFP_HUMAN V 493 ENSP00000318085:A493V ENSP00000318085:A493V A + 2 0 HINFP 118510342 0.002000 0.14202 0.000000 0.03702 0.091000 0.18340 -0.098000 0.11024 -0.001000 0.14495 -0.136000 0.14681 GCC NOVEL HINFP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388201.2 3 14.581846 KEEP 0 1 30 59 2087 CC 1 1 0 + 15 60 509 0 0 31.955665 313 60 11323 451 ENST00000350777.2 0.045732 1 NLRX1 79671 __UNKNOWN__ __UNKNOWN__ 11 119043656 119043656 __UNKNOWN__ Missense_Mutation SNP C C T rs643423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119043656C>T ENST00000409109.1 + 4 774 c.187C>T c.(187-189)Ccc>Tcc p.P63S NLRX1_ENST00000409265.4_Missense_Mutation_p.P63S|NLRX1_ENST00000525863.1_Missense_Mutation_p.P63S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P63S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P63S|NLRX1_ENST00000474751.2_3'UTR NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 63 NA P -> S (in dbSNP:rs643423). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039}. innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032) mitochondrial outer membrane (GO:0005741) ATP binding (GO:0005524) cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CGCTCCCCCACCCGGGAGGCA 0.632 NA T||| 3417 0.682308 0.6936 0.402 5008 , , NA 16229 0.8829 NA 0.5497 False NA ,,, NA NA NA 2504 0.7955 NA NA NA NA 0 T SER/PRO,SER/PRO 2863,1537 486.0+/-360.5 927,1009,264 72 71 72 187,187 -4.8 0 11 dbSNP_83 72 4487,4103 563.2+/-388.1 1169,2149,977 yes missense,missense NLRX1 NM_024618.2,NM_170722.1 74,74 2096,3158,1241 TT,TC,CC 47.7648,34.9318,43.418 benign,benign 63/976,63/922 119043656 7350,5640 2200 4295 6495 SO:0001583 missense AB094095 CCDS8416.1 11q23.3 2007-02-07 ENSG00000160703 ENSG00000160703 79671 Nucleotide-binding domain and leucine rich repeat containing 29890 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat containing X1, NOD-like receptor X1, NLR family, X1 611947 NA 12766759 Standard NM_170722 XM_005271669 NA Approved NOD9, CLR11.3 uc001pvw.3 Q86UT6 OTTHUMG00000154476 ENST00000409109.1:c.187C>T chr11.hg19:g.119043656C>T ENSP00000387334:p.Pro63Ser NA A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724 hg19 CCDS8416.1 0.02 4.566515 CCAxCCG COVERED 1387 0.63507326007326 319 0.6483739837398373 162 0.44751381215469616 496 0.8671328671328671 410 0.5408970976253298 T 0.040 -1.287510 0.01387 0.650682 0.522352 ENSG00000160703 ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863 T;T;T;T;T;T;T;T 0.69806 1.67;1.67;1.67;-0.3;-0.3;-0.43;-0.3;-0.43 5.4 -4.75 0.03239 . 1.123620 0.06731 N 0.776696 T 0.00012 0.0000 N 0.04880 -0.145 0.80722 P 0.0 B;B 0.12013 0.005;0.0 B;B 0.06405 0.002;0.0 T 0.32161 -0.9917 9 0.06099 T 0.92 . 11.9448 0.52922 0.0:0.6535:0.1091:0.2373 rs643423;rs59337253;rs643423 63;63 Q86UT6-2;Q86UT6 .;NLRX1_HUMAN S 63 ENSP00000400268:P63S;ENSP00000402801:P63S;ENSP00000402381:P63S;ENSP00000386851:P63S;ENSP00000292199:P63S;ENSP00000386858:P63S;ENSP00000387334:P63S;ENSP00000433442:P63S ENSP00000292199:P63S P + 1 0 NLRX1 118548866 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.208000 0.01229 -1.172000 0.02762 -1.177000 0.01723 CCC NOVEL NLRX1-004 PUTATIVE alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335403.1 1 10.835727 KEEP 0 0 0 36 1317 CC 0.999999 0.999996 0 + 9 60 302 0 0 20.873768 104 60 3773 192 ENST00000409109.1 0.079646 0.999997 NLRX1 79671 __UNKNOWN__ __UNKNOWN__ 11 119050849 119050849 __UNKNOWN__ Missense_Mutation SNP C C T rs149770693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119050849C>T ENST00000409109.1 + 7 2706 c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C NLRX1_ENST00000409265.4_Missense_Mutation_p.R707C|NLRX1_ENST00000525863.1_Missense_Mutation_p.R707C|NLRX1_ENST00000409991.1_Missense_Mutation_p.R707C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R707C NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 707 Required for the repression of MAVS- induced interferon signaling. NA innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032) mitochondrial outer membrane (GO:0005741) ATP binding (GO:0005524) cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GGCAGGTGTGCGCATGACACC 0.597 NA C||| 14 0.00279553 0.0015 0.0014 5008 , , NA 20083 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 47 42 44 NA NA 11 NA 119050849 2200 4295 6495 SO:0001583 missense AB094095 CCDS8416.1 11q23.3 2007-02-07 ENSG00000160703 ENSG00000160703 79671 Nucleotide-binding domain and leucine rich repeat containing 29890 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat containing X1, NOD-like receptor X1, NLR family, X1 611947 NA 12766759 Standard NM_170722 XM_005271669 NA Approved NOD9, CLR11.3 uc001pvw.3 Q86UT6 OTTHUMG00000154476 ENST00000409109.1:c.2119C>T chr11.hg19:g.119050849C>T ENSP00000387334:p.Arg707Cys NA A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724 hg19 CCDS8416.1 0.02 15.509604 GTGxGCA COVERED 16 0.007326007326007326 4 0.008130081300813009 1 0.0027624309392265192 10 0.017482517482517484 1 0.0013192612137203166 C 13.50 2.255269 0.39896 . . ENSG00000160703 ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863 T;T;T;T;T 0.54279 0.58;0.58;0.58;0.58;0.58 5.33 4.41 0.53225 . 0.338632 0.27433 N 0.019389 T 0.41834 0.1176 L 0.32530 0.975 0.50813 D 0.999893 D;D 0.89917 1.0;1.0 D;D 0.71414 0.973;0.965 T 0.53394 -0.8445 10 0.59425 D 0.04 . 8.9735 0.35921 0.2903:0.5893:0.1204:0.0 . 707;707 Q86UT6-2;Q86UT6 .;NLRX1_HUMAN C 707 ENSP00000386851:R707C;ENSP00000292199:R707C;ENSP00000386858:R707C;ENSP00000387334:R707C;ENSP00000433442:R707C ENSP00000292199:R707C R + 1 0 NLRX1 118556059 1.000000 0.71417 0.994000 0.49952 0.113000 0.19764 3.614000 0.54160 1.225000 0.43566 0.561000 0.74099 CGC NOVEL NLRX1-004 PUTATIVE alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335403.1 3 22.864529 KEEP 0 0 0 76 2629 CC 1 1 0 + 16 60 594 0 0 38.756965 337 60 11540 536 ENST00000409109.1 0.045326 1 NLRX1 79671 __UNKNOWN__ __UNKNOWN__ 11 119052826 119052826 __UNKNOWN__ Missense_Mutation SNP C C A rs4245191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119052826C>A ENST00000409109.1 + 9 2965 c.2378C>A c.(2377-2379)gCg>gAg p.A793E NLRX1_ENST00000409265.4_Missense_Mutation_p.A793E|NLRX1_ENST00000525863.1_Missense_Mutation_p.A793E|NLRX1_ENST00000409991.1_Missense_Mutation_p.A793E|NLRX1_ENST00000292199.2_Missense_Mutation_p.A793E NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 793 Required for the repression of MAVS- induced interferon signaling. NA A -> E (in dbSNP:rs4245191). {ECO:0000269|PubMed:12766759, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032) mitochondrial outer membrane (GO:0005741) ATP binding (GO:0005524) cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCGCTGACGGCGGCAGGTGTT 0.632 NA C||| 3447 0.688299 0.708 0.4179 5008 , , NA 18563 0.8839 NA 0.5477 False NA ,,, NA NA NA 2504 0.7965 NA NA NA NA 0 C GLU/ALA,GLU/ALA 2971,1429 652.9+/-399.5 1024,923,253 124 118 120 2378,2378 2.9 0 11 dbSNP_111 120 4477,4113 565.2+/-388.4 1172,2133,990 yes missense,missense NLRX1 NM_024618.2,NM_170722.1 107,107 2196,3056,1243 AA,AC,CC 47.8813,32.4773,42.6636 benign,benign 793/976,793/922 119052826 7448,5542 2200 4295 6495 SO:0001583 missense AB094095 CCDS8416.1 11q23.3 2007-02-07 ENSG00000160703 ENSG00000160703 79671 Nucleotide-binding domain and leucine rich repeat containing 29890 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat containing X1, NOD-like receptor X1, NLR family, X1 611947 NA 12766759 Standard NM_170722 XM_005271669 NA Approved NOD9, CLR11.3 uc001pvw.3 Q86UT6 OTTHUMG00000154476 ENST00000409109.1:c.2378C>A chr11.hg19:g.119052826C>A ENSP00000387334:p.Ala793Glu NA A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724 hg19 CCDS8416.1 0.02 6.284994 CGGxGGC COVERED 1419 0.6497252747252747 349 0.709349593495935 166 0.4585635359116022 496 0.8671328671328671 408 0.5382585751978892 C 0.006 -2.091840 0.00364 0.675227 0.521187 ENSG00000160703 ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863 T;T;T;T;T 0.51574 0.7;0.7;0.7;0.7;0.7 4.78 2.91 0.33838 . 0.152719 0.40640 N 0.001049 T 0.00012 0.0000 N 0.03115 -0.41 0.54753 P 1.799999999996249E-5 B;B 0.15719 0.014;0.007 B;B 0.17979 0.02;0.006 T 0.40590 -0.9555 9 0.02654 T 1 . 6.5557 0.22460 0.1759:0.6611:0.0:0.163 rs4245191;rs17627663;rs17845376;rs17858230;rs61333211;rs4245191 793;793 Q86UT6-2;Q86UT6 .;NLRX1_HUMAN E 793 ENSP00000386851:A793E;ENSP00000292199:A793E;ENSP00000386858:A793E;ENSP00000387334:A793E;ENSP00000433442:A793E ENSP00000292199:A793E A + 2 0 NLRX1 118558036 0.979000 0.34478 0.018000 0.16275 0.003000 0.03518 2.559000 0.45888 0.628000 0.30357 0.609000 0.83330 GCG NOVEL NLRX1-004 PUTATIVE alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335403.1 1 14.702247 KEEP 0 0 0 49 1723 CC 1 1 0 + 7 60 248 0 0 15.299695 173 60 6281 307 ENST00000409109.1 0.038889 1 NLRX1 79671 __UNKNOWN__ __UNKNOWN__ 11 119054208 119054208 __UNKNOWN__ 3'UTR SNP G G T rs45439091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119054208G>T ENST00000409109.1 + 0 3575 NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_3'UTR|NLRX1_ENST00000292199.2_3'UTR NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 NA NA innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032) mitochondrial outer membrane (GO:0005741) ATP binding (GO:0005524) cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCCCTCTGTGGCCTCCTGGCT 0.582 NA G||| 868 0.173323 0.1248 0.0548 5008 , , NA 18577 0.2292 NA 0.0855 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB094095 CCDS8416.1 11q23.3 2007-02-07 ENSG00000160703 ENSG00000160703 79671 Nucleotide-binding domain and leucine rich repeat containing 29890 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat containing X1, NOD-like receptor X1, NLR family, X1 611947 NA 12766759 Standard NM_170722 XM_005271669 NA Approved NOD9, CLR11.3 uc001pvw.3 Q86UT6 OTTHUMG00000154476 ENST00000409109.1:c.*60G>T chr11.hg19:g.119054208G>T NA A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724 hg19 CCDS8416.1 0.02 13.518647 GTGxCCT COVERED NOVEL NLRX1-004 PUTATIVE alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335403.1 3 14.748152 KEEP 0 0 0 49 1755 GG 1 1 0 + 11 60 380 0 0 21.568547 377 60 13725 515 ENST00000409109.1 0.028351 1 NLRX1 79671 __UNKNOWN__ __UNKNOWN__ 11 119054488 119054488 __UNKNOWN__ 3'UTR SNP C C T rs10790286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119054488C>T ENST00000409109.1 + 0 3855 NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_3'UTR|NLRX1_ENST00000292199.2_3'UTR NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 NA NA innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032) mitochondrial outer membrane (GO:0005741) ATP binding (GO:0005524) cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAGCCTCTGACTGTGTCACCA 0.552 NA T||| 2563 0.511781 0.5703 0.366 5008 , , NA 21400 0.6518 NA 0.4642 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 T , 2192,1980 598,996,492 62 63 63 , -0.5 0 11 dbSNP_120 63 3710,4748 824,2062,1343 no utr-3,intron NLRX1 NM_024618.2,NM_170722.1 , 1422,3058,1835 TT,TC,CC 43.8638,47.4593,46.73 , , 119054488 5902,6728 2086 4229 6315 SO:0001624 3_prime_UTR_variant AB094095 CCDS8416.1 11q23.3 2007-02-07 ENSG00000160703 ENSG00000160703 79671 Nucleotide-binding domain and leucine rich repeat containing 29890 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat containing X1, NOD-like receptor X1, NLR family, X1 611947 NA 12766759 Standard NM_170722 XM_005271669 NA Approved NOD9, CLR11.3 uc001pvw.3 Q86UT6 OTTHUMG00000154476 ENST00000409109.1:c.*340C>T chr11.hg19:g.119054488C>T NA A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724 hg19 CCDS8416.1 0.02 25.970005 TGAxTGT COVERED 1154 0.5283882783882784 289 0.5873983739837398 143 0.39502762430939226 380 0.6643356643356644 342 0.45118733509234826 T 8.846 0.943467 0.18281 0.525407 0.438638 ENSG00000160703 ENST00000397884 . . . 4.81 -0.495 0.12030 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.41716 -0.9493 4 0.87932 D 0 . 5.2967 0.15756 0.0:0.3391:0.1492:0.5117 rs10790286;rs58593152;rs10790286 . . . I 56 . ENSP00000380981:T56I T + 2 0 NLRX1 118559698 0.000000 0.05858 0.000000 0.03702 0.130000 0.20726 -0.453000 0.06778 -0.471000 0.06891 -0.254000 0.11334 ACT NOVEL NLRX1-004 PUTATIVE alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335403.1 2 17.426561 KEEP 0 2 60 79 2869 CC 1 1 0 + 22 60 817 0 0 50.503138 626 60 23663 846 ENST00000409109.1 0.033951 1 PDZD3 79849 __UNKNOWN__ __UNKNOWN__ 11 119059404 119059404 __UNKNOWN__ Missense_Mutation SNP G G A rs1815811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119059404G>A ENST00000525131.1 + 9 1211 c.1076G>A c.(1075-1077)cGg>cAg p.R359Q PDZD3_ENST00000531114.1_Missense_Mutation_p.R438Q|PDZD3_ENST00000392817.2_Missense_Mutation_p.R438Q|PDZD3_ENST00000355547.5_Missense_Mutation_p.R372Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R358Q Q86UT5 NHRF4_HUMAN PDZ domain containing 3 438 PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833) apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003) guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) GCCTCGCCCCGGGGCAGCAGC 0.607 NA A||| 3330 0.664936 0.6014 0.4251 5008 , , NA 17325 0.879 NA 0.5716 False NA ,,, NA NA NA 2504 0.7965 NA NA NA NA 0 A GLN/ARG,GLN/ARG 2590,1810 529.0+/-372.6 778,1034,388 58 54 56 1115,1073 -1.8 0 11 dbSNP_92 56 4672,3918 545.1+/-384.7 1256,2160,879 yes missense,missense PDZD3 NM_001168468.1,NM_024791.3 43,43 2034,3194,1267 AA,AG,GG 45.6112,41.1364,44.0955 benign,benign 372/506,358/492 119059404 7262,5728 2200 4295 6495 SO:0001583 missense AK091966 CCDS8417.1, CCDS53719.1 11q23.3 2008-02-05 2006-01-24 2006-01-24 ENSG00000172367 ENSG00000172367 79849 19891 protein-coding gene gene with protein product 607146 PDZ domain containing 2 PDZK2 NA 11950846 Standard NM_024791 NM_024791 NA Approved FLJ22756, IKEPP uc001pvz.3 Q86UT5 OTTHUMG00000166224 ENST00000525131.1:c.1076G>A chr11.hg19:g.119059404G>A ENSP00000434559:p.Arg359Gln NA Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3 hg19 0.02 8.661373 CCCxGGG COVERED 1384 0.6336996336996337 297 0.6036585365853658 170 0.4696132596685083 493 0.8618881118881119 424 0.5593667546174143 A 3.171 -0.170042 0.06461 0.588636 0.543888 ENSG00000172367 ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817 T;T;T;T;T 0.73047 1.61;1.58;1.62;-0.71;1.58 5.21 -1.83 0.07833 PDZ/DHR/GLGF (1); 1.300320 0.05375 N 0.536080 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B;B;B;B 0.09022 0.0;0.002;0.001;0.001 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.27773 -1.0064 9 0.09338 T 0.73 0.0036 6.3572 0.21408 0.3089:0.3595:0.3317:0.0 rs1815811;rs4127379;rs17545150;rs17845869;rs17858844;rs60088554;rs1815811 359;438;372;358 E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61 .;NHRF4_HUMAN;.;. Q 359;438;372;358;372;438 ENSP00000434559:R359Q;ENSP00000431164:R438Q;ENSP00000347742:R372Q;ENSP00000327107:R358Q;ENSP00000376564:R438Q ENSP00000327107:R358Q R + 2 0 PDZD3 118564614 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 0.042000 0.13949 -0.564000 0.06070 -0.254000 0.11334 CGG NOVEL PDZD3-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000388467.1 1 8.426704 KEEP 0 0 0 28 945 GG 0.999997 0.999997 0 + 16 60 509 0 0 33.83658 210 60 7050 317 ENST00000525131.1 0.070796 1 CCDC153 283152 __UNKNOWN__ __UNKNOWN__ 11 119060963 119060963 __UNKNOWN__ 3'UTR SNP T T C rs45535039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119060963T>C ENST00000503566.2 - 0 678 Q494R4 CC153_HUMAN coiled-coil domain containing 153 NA NA lung(3)|stomach(1) 4 CACAGCTCTATTGAGTTCTAC 0.418 NA T||| 1925 0.384385 0.2421 0.1916 5008 , , NA 17349 0.5169 NA 0.3241 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 T 1060,3340 125,810,1265 46 51 49 -8.8 0 11 dbSNP_127 49 2440,6150 370,1700,2225 yes utr-3 CCDC153 NM_001145018.1 495,2510,3490 CC,CT,TT 28.4051,24.0909,26.9438 119060963 3500,9490 2200 4295 6495 SO:0001624 3_prime_UTR_variant CCDS44753.1 11q23.3 2011-07-22 ENSG00000248712 ENSG00000248712 283152 27446 protein-coding gene gene with protein product NA 12477932 Standard NM_001033658 NM_001145018 NA Approved LOC283152 uc010rze.2 Q494R4 OTTHUMG00000156903 ENST00000503566.2:c.*46A>G chr11.hg19:g.119060963T>C NA hg19 CCDS44753.1 0.02 9.481587 CTAxTGA COVERED NOVEL CCDC153-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388331.2 1 15.647884 KEEP 0 0 0 52 1675 TT 1 1 0 - 15 60 550 0 0 38.600096 198 60 7262 340 ENST00000503566.2 0.070423 1 CCDC153 283152 __UNKNOWN__ __UNKNOWN__ 11 119065709 119065709 __UNKNOWN__ Intron SNP G G C rs10750139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119065709G>C ENST00000503566.2 - 2 64 CCDC153_ENST00000415318.1_Intron Q494R4 CC153_HUMAN coiled-coil domain containing 153 NA NA lung(3)|stomach(1) 4 CTGCACCTGCGGTGGCAAGTG 0.592 NA C||| 3660 0.730831 0.8351 0.4409 5008 , , NA 18660 0.8859 NA 0.5716 False NA ,,, NA NA NA 2504 0.7996 NA NA NA NA 0 C 1083,301 426,231,35 39 49 46 0.7 0.1 11 dbSNP_120 46 1736,1446 466,804,321 no intron CCDC153 NM_001145018.1 892,1035,356 CC,CG,GG 45.4431,21.7486,38.2611 119065709 2819,1747 692 1591 2283 SO:0001627 intron_variant CCDS44753.1 11q23.3 2011-07-22 ENSG00000248712 ENSG00000248712 283152 27446 protein-coding gene gene with protein product NA 12477932 Standard NM_001033658 NM_001145018 NA Approved LOC283152 uc010rze.2 Q494R4 OTTHUMG00000156903 ENST00000503566.2:c.65-5C>G chr11.hg19:g.119065709G>C NA hg19 CCDS44753.1 0.02 10.295809 TGCxGTG COVERED NOVEL CCDC153-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388331.2 0 4.415709 KEEP 0 3 92 47 1571 GG 1 1 0 - 17 60 543 0 0 35.036753 260 60 9197 376 ENST00000503566.2 0.061372 1 CBL 867 __UNKNOWN__ __UNKNOWN__ 11 119146659 119146659 __UNKNOWN__ Intron SNP G G C rs2511854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119146659G>C ENST00000264033.4 + 6 1245 NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase NA NA cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GCCTTCCACCGTAATACCAGC 0.383 NA T, Mis S, O MLL AML, JMML, MDS Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies C||| 3665 0.731829 0.8343 0.4452 5008 , , NA 24249 0.8829 NA 0.5795 False NA ,,, NA NA NA 2504 0.7975 NA NA NA Dom, Rec yes 11 11q23.3 867 Cas-Br-M (murine) ecotropic retroviral transforming L 0 C 3442,956 356.9+/-313.7 1356,730,113 114 110 112 2.6 0 11 dbSNP_100 112 4694,3896 540.7+/-383.9 1259,2176,860 no intron CBL NM_005188.2 2615,2906,973 CC,CG,GG 45.3551,21.7372,37.3576 119146659 8136,4852 2199 4295 6494 SO:0001627 intron_variant Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML X57110 CCDS8418.1 11q23.3 2014-09-17 2012-02-23 ENSG00000110395 ENSG00000110395 867 RING-type (C3HC4) zinc fingers 1541 protein-coding gene gene with protein product oncogene CBL2 165360 Cas-Br-M (murine) ecotropic retroviral transforming sequence CBL2 NA 2013228 Standard NM_005188 NM_005188 NA Approved RNF55, c-Cbl uc001pwe.4 P22681 OTTHUMG00000166170 ENST00000264033.4:c.870-48G>C chr11.hg19:g.119146659G>C NA A3KMP8 hg19 CCDS8418.1 0.02 2.117586 ACCxTAA COVERED NOVEL CBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388219.4 0 2.708375 KEEP 0 0 0 9 299 GG 0.99254 0.98629 0 + 6 60 221 0 0 16.27447 59 60 1969 84 ENST00000264033.4 0.092308 0.993703 CBL 867 __UNKNOWN__ __UNKNOWN__ 11 119148573 119148573 __UNKNOWN__ Intron SNP G G T rs2510152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119148573G>T ENST00000264033.4 + 7 1471 NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase NA NA cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TGTTTCACATGATAACCATAT 0.383 NA T, Mis S, O MLL AML, JMML, MDS Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies T||| 3649 0.728634 0.8336 0.4424 5008 , , NA 15888 0.879 NA 0.5765 False NA ,,, NA NA NA 2504 0.7914 NA NA NA Dom, Rec yes 11 11q23.3 867 Cas-Br-M (murine) ecotropic retroviral transforming L 0 T 3436,962 363.1+/-316.4 1350,736,113 66 63 64 0.3 0 11 dbSNP_100 64 4676,3914 547.7+/-385.2 1248,2180,867 no intron CBL NM_005188.2 2598,2916,980 TT,TG,GG 45.5646,21.8736,37.5423 119148573 8112,4876 2199 4295 6494 SO:0001627 intron_variant Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML X57110 CCDS8418.1 11q23.3 2014-09-17 2012-02-23 ENSG00000110395 ENSG00000110395 867 RING-type (C3HC4) zinc fingers 1541 protein-coding gene gene with protein product oncogene CBL2 165360 Cas-Br-M (murine) ecotropic retroviral transforming sequence CBL2 NA 2013228 Standard NM_005188 NM_005188 NA Approved RNF55, c-Cbl uc001pwe.4 P22681 OTTHUMG00000166170 ENST00000264033.4:c.1095+19G>T chr11.hg19:g.119148573G>T NA A3KMP8 hg19 CCDS8418.1 0.02 11.299695 CATxATA COVERED NOVEL CBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388219.4 3 11.738005 KEEP 0 0 0 39 1367 GG 1 1 0 + 23 60 835 0 0 60.026931 255 60 9586 369 ENST00000264033.4 0.082734 1 MCAM 4162 __UNKNOWN__ __UNKNOWN__ 11 119180316 119180316 __UNKNOWN__ 3'UTR SNP G G A rs7914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119180316G>A ENST00000264036.4 - 0 2235 MCAM_ENST00000392814.1_Intron NM_006500.2 NP_006491.2 P43121 MUC18_HUMAN melanoma cell adhesion molecule NA NA anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042) external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) AACACGTTCTGCAAGAAACTC 0.542 NA G||| 2041 0.407548 0.3835 0.2911 5008 , , NA 20095 0.497 NA 0.2455 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X68264 CCDS31690.1 11q23.3 2013-01-29 ENSG00000076706 4162 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6934 protein-coding gene gene with protein product Gicerin 155735 NA 2602381, 10702685 Standard XM_005271552 NA Approved MUC18, CD146 uc001pwf.3 P43121 ENST00000264036.4:c.*280C>T chr11.hg19:g.119180316G>A NA O95812|Q59E86|Q6PHR3|Q6ZTR2 hg19 CCDS31690.1 0.02 8.190409 TCTxCAA COVERED NOVEL MCAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388332.2 0 26.186174 KEEP 0 0 0 87 3143 GG 1 1 0 - 11 60 376 0 0 24.364284 190 70 7240 380 ENST00000264036.4 0.054726 1 RP11-831A10.1 0 __UNKNOWN__ __UNKNOWN__ 11 119879425 119879425 __UNKNOWN__ lincRNA SNP T T C rs648374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119879425T>C ENST00000534423.1 - 0 449 NA NA NA ttctccgagattgcgagtgcc 0.512 NA C||| 3130 0.625 0.5998 0.4798 5008 , , NA 21340 0.7956 NA 0.4592 False NA ,,, NA NA NA 2504 0.7566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000534423.1: chr11.hg19:g.119879425T>C NA hg19 0.02 12.672455 AGAxTGC COVERED NOVEL RP11-831A10.1-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000388012.1 2 9.162116 KEEP 0 1 39 44 1358 TT 1 1 0 - 12 60 437 0 0 26.956774 324 60 11749 476 ENST00000534423.1 0.035714 1 RP11-831A10.1 0 __UNKNOWN__ __UNKNOWN__ 11 119879488 119879488 __UNKNOWN__ lincRNA SNP G G A rs1944496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:119879488G>A ENST00000534423.1 - 0 386 NA NA NA tcccttgtacggtgtctggct 0.478 NA G||| 1581 0.315695 0.3328 0.2118 5008 , , NA 21479 0.4266 NA 0.2048 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000534423.1: chr11.hg19:g.119879488G>A NA hg19 0.02 13.633846 TACxGTG COVERED NOVEL RP11-831A10.1-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000388012.1 0 12.33987 KEEP 0 0 0 41 1420 GG 1 1 0 - 10 60 359 0 0 21.566209 296 60 10459 428 ENST00000534423.1 0.03268 1 AP000679.2 0 __UNKNOWN__ __UNKNOWN__ 11 120040943 120040943 __UNKNOWN__ Silent SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120040943A>G ENST00000319763.1 + 2 637 c.426A>G c.(424-426)ggA>ggG p.G142G NA NA NA GGGCTGGGGGAGGGGGCCAGA 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000319763.1:c.426A>G chr11.hg19:g.120040943A>G NA hg19 0.02 4.387994 GGGxGGG COVERED NOVEL AP000679.2-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000388035.3 2 10.764556 KEEP 0 12 89 71 1691 AA 1 1 0 + 42 60 435 0 0 17.78355 196 60 4771 486 ENST00000319763.1 0.176471 1 OAF 220323 __UNKNOWN__ __UNKNOWN__ 11 120082064 120082064 __UNKNOWN__ Missense_Mutation SNP C C A rs376205535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120082064C>A ENST00000328965.4 + 1 590 c.77C>A c.(76-78)aCg>aAg p.T26K OAF_ENST00000531220.1_5'UTR NM_178507.2 NP_848602.1 Q86UD1 OAF_HUMAN OAF homolog (Drosophila) 26 NA extracellular vesicular exosome (GO:0070062) kidney(1)|lung(5) 6 Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.1e-06) ctgctgGGAACGGGTGCGCCG 0.776 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 8386 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 2 2 2 NA NA 11 NA 120082064 1226 2636 3862 SO:0001583 missense BC047726 CCDS8430.1 11q23.3 2010-11-23 ENSG00000184232 ENSG00000184232 220323 28752 protein-coding gene gene with protein product NA 12477932 Standard NM_178507 NM_178507 NA Approved MGC52117 uc001pxb.3 Q86UD1 OTTHUMG00000166139 ENST00000328965.4:c.77C>A chr11.hg19:g.120082064C>A ENSP00000332613:p.Thr26Lys NA hg19 CCDS8430.1 0.02 2.159287 GAAxGGG COVERED . . . . . . . . . . C 7.717 0.696294 0.15106 . . ENSG00000184232 ENST00000328965 T 0.28895 1.59 3.75 2.83 0.33086 . 1.223890 0.05832 N 0.617687 T 0.14874 0.0359 N 0.08118 0 0.49130 D 0.99975 B 0.15141 0.012 B 0.17722 0.019 T 0.31081 -0.9956 10 0.05721 T 0.95 -0.1857 7.2164 0.25961 0.0:0.8692:0.0:0.1308 . 26 Q86UD1 OAF_HUMAN K 26 ENSP00000332613:T26K ENSP00000332613:T26K T + 2 0 OAF 119587274 0.097000 0.21791 0.354000 0.25760 0.052000 0.14988 -0.515000 0.06290 0.542000 0.28846 0.462000 0.41574 ACG NOVEL OAF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388036.2 0 13.236939 KEEP 0 0 0 44 1459 CC 1 0.999487 0 + 4 60 149 0 0 9.848 79 60 2884 158 ENST00000328965.4 0.048193 0.999487 POU2F3 25833 __UNKNOWN__ __UNKNOWN__ 11 120178347 120178347 __UNKNOWN__ Intron SNP C C A rs11217809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120178347C>A ENST00000543440.2 + 9 1056 POU2F3_ENST00000260264.4_Intron NM_014352.3 NP_055167.2 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 NA NA epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565) large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) TTCGGGTGGGCACGGGTGGGC 0.592 NA c||| 895 0.178714 0.003 0.0389 5008 , , NA 15453 0.6151 NA 0.004 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 16,4390 23.3+/-48.9 0,16,2187 79 71 74 -4 0 11 dbSNP_120 74 15,8583 11.2+/-40.8 0,15,4284 no intron POU2F3 NM_014352.3 0,31,6471 AA,AC,CC 0.1745,0.3631,0.2384 120178347 31,12973 2203 4299 6502 SO:0001627 intron_variant AF133895 CCDS8431.1, CCDS58190.1 11q23.3 2011-06-20 2007-07-13 ENSG00000137709 ENSG00000137709 25833 Homeoboxes / POU class 19864 protein-coding gene gene with protein product 607394 POU domain class 2, transcription factor 3 NA 10473598 Standard NM_014352 NA Approved OCT11, PLA-1, Skn-1a, Epoc-1 uc021qrk.1 Q9UKI9 OTTHUMG00000166140 ENST00000543440.2:c.906+23C>A chr11.hg19:g.120178347C>A NA A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504 hg19 CCDS8431.1 0.02 4.228509 GGGxACG COVERED NOVEL POU2F3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388039.2 2 10.534342 KEEP 0 0 0 35 1251 CC 0.999999 0.999989 0 + 5 60 181 0 0 11.696521 103 60 3864 178 ENST00000543440.2 0.046296 0.999991 POU2F3 25833 __UNKNOWN__ __UNKNOWN__ 11 120178414 120178414 __UNKNOWN__ Intron SNP C C T rs11217810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120178414C>T ENST00000543440.2 + 9 1056 POU2F3_ENST00000260264.4_Intron NM_014352.3 NP_055167.2 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 NA NA epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565) large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) ACCAGCCCCTCCGCACCTCAC 0.607 NA c||| 849 0.169529 0.0023 0.0014 5008 , , NA 14821 0.6002 NA 0.002 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF133895 CCDS8431.1, CCDS58190.1 11q23.3 2011-06-20 2007-07-13 ENSG00000137709 ENSG00000137709 25833 Homeoboxes / POU class 19864 protein-coding gene gene with protein product 607394 POU domain class 2, transcription factor 3 NA 10473598 Standard NM_014352 NA Approved OCT11, PLA-1, Skn-1a, Epoc-1 uc021qrk.1 Q9UKI9 OTTHUMG00000166140 ENST00000543440.2:c.906+90C>T chr11.hg19:g.120178414C>T NA A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504 hg19 CCDS8431.1 0.02 -0.35964 CCTxCGC COVERED NOVEL POU2F3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388039.2 0 3.310938 KEEP 0 0 0 11 399 CC 0.993072 0.882717 0 + 3 60 101 0 0 6.872582 38 60 1331 54 ENST00000543440.2 0.073171 0.888875 GRIK4 2900 __UNKNOWN__ __UNKNOWN__ 11 120769382 120769382 __UNKNOWN__ Intron SNP A A T rs201605371|rs57151589|rs386758165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120769382A>T ENST00000527524.2 + 12 1559 GRIK4_ENST00000438375.2_Intron NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 NA NA glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) CAGCTGCAGCATCCTGGGGTG 0.572 NA T||| 1468 0.293131 0.3616 0.1902 5008 , , NA 19456 0.4425 NA 0.1382 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 T 154,4252 41,72,2090 99 74 83 2.5 0 11 dbSNP_129 83 54,8544 18,18,4263 no intron GRIK4 NM_014619.2 59,90,6353 TT,TA,AA 0.6281,3.4952,1.5995 120769382 208,12796 2203 4299 6502 SO:0001627 intron_variant S67803 CCDS8433.1 11q23.3 2012-08-29 ENSG00000149403 ENSG00000149403 2900 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4582 protein-coding gene gene with protein product 600282 GRIK NA Standard NM_014619 NM_001282470 NA Approved GluK4, KA1 uc009zax.1 Q16099 OTTHUMG00000048255 ENST00000527524.2:c.1272+34A>T chr11.hg19:g.120769382A>T NA A8K9L1 hg19 CCDS8433.1 0.02 11.006133 AGCxTCC COVERED NOVEL GRIK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109760.4 0 6.919616 KEEP 0 0 0 23 697 AA 0.999892 0.999892 0 + 11 60 406 0 0 25.961407 255 60 9264 328 ENST00000527524.2 0.041353 1 GRIK4 2900 __UNKNOWN__ __UNKNOWN__ 11 120769383 120769383 __UNKNOWN__ Intron SNP T T C rs57943482|rs386758165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120769383T>C ENST00000527524.2 + 12 1559 GRIK4_ENST00000438375.2_Intron NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 NA NA glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) AGCTGCAGCATCCTGGGGTGC 0.567 NA C||| 1452 0.289936 0.3563 0.1888 5008 , , NA 19562 0.4405 NA 0.1372 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 C 73,4333 22,29,2152 98 74 82 3.3 0 11 dbSNP_129 82 42,8556 14,14,4271 no intron GRIK4 NM_014619.2 36,43,6423 CC,CT,TT 0.4885,1.6568,0.8843 120769383 115,12889 2203 4299 6502 SO:0001627 intron_variant S67803 CCDS8433.1 11q23.3 2012-08-29 ENSG00000149403 ENSG00000149403 2900 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4582 protein-coding gene gene with protein product 600282 GRIK NA Standard NM_014619 NM_001282470 NA Approved GluK4, KA1 uc009zax.1 Q16099 OTTHUMG00000048255 ENST00000527524.2:c.1272+35T>C chr11.hg19:g.120769383T>C NA A8K9L1 hg19 CCDS8433.1 0.02 11.715833 GCAxCCT COVERED NOVEL GRIK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109760.4 0 6.620251 KEEP 0 0 0 22 713 TT 0.999879 0.999879 0 + 11 60 413 0 0 26.683764 254 60 9095 327 ENST00000527524.2 0.041509 1 GRIK4 2900 __UNKNOWN__ __UNKNOWN__ 11 120823744 120823744 __UNKNOWN__ Intron SNP G G C rs74929516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120823744G>C ENST00000527524.2 + 15 1987 GRIK4_ENST00000438375.2_Intron NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 NA NA glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) GCATggggagggggtggggag 0.607 NA OREG0021429 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 52 0.0103834 0.0 0.0 5008 , , NA 12181 0.0506 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S67803 CCDS8433.1 11q23.3 2012-08-29 ENSG00000149403 ENSG00000149403 2900 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4582 protein-coding gene gene with protein product 600282 GRIK NA Standard NM_014619 NM_001282470 NA Approved GluK4, KA1 uc009zax.1 Q16099 OTTHUMG00000048255 ENST00000527524.2:c.1700+71G>C chr11.hg19:g.120823744G>C 1506 A8K9L1 hg19 CCDS8433.1 0.02 5.6987 GAGxGGG COVERED NOVEL GRIK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109760.4 0 3.009627 KEEP 0 0 0 10 341 GG 0.992708 0.992708 0 + 6 60 202 0 0 12.029101 150 60 5265 176 ENST00000527524.2 0.038462 1 TBCEL 219899 __UNKNOWN__ __UNKNOWN__ 11 120959800 120959800 __UNKNOWN__ 3'UTR SNP G G A rs2298491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120959800G>A ENST00000422003.2 + 0 3458 NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) ATGAGTTTGAGAGAGAAAAAG 0.413 NA G||| 1077 0.215056 0.1679 0.1787 5008 , , NA 18888 0.3244 NA 0.1829 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC020501 CCDS31692.1 11q23.3 2008-02-05 2006-11-21 2006-11-21 ENSG00000154114 219899 28115 protein-coding gene gene with protein product 610451 leucine rich repeat containing 35, tubulin-specific chaperone e-like LRRC35 NA 15728251 Standard NM_152715 NM_152715 NA Approved MGC10233 uc001pxo.3 Q5QJ74 ENST00000422003.2:c.*1995G>A chr11.hg19:g.120959800G>A NA Q0VAN6 hg19 CCDS31692.1 0.02 9.187273 TGAxAGA COVERED NOVEL TBCEL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387657.2 1 14.14601 KEEP 0 0 0 47 1670 GG 1 1 0 + 10 60 373 0 0 24.811264 191 60 7219 283 ENST00000422003.2 0.049751 1 TECTA 7007 __UNKNOWN__ __UNKNOWN__ 11 120989335 120989335 __UNKNOWN__ Missense_Mutation SNP A A G rs612969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:120989335A>G ENST00000392793.1 + 7 1382 c.1111A>G c.(1111-1113)Aga>Gga p.R371G TECTA_ENST00000264037.2_Missense_Mutation_p.R371G O75443 TECTA_HUMAN tectorin alpha 371 VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}. NA R -> G (in dbSNP:rs612969). {ECO:0000269|PubMed:10987647, ECO:0000269|PubMed:9590290}. cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGAACACCGCAGAGGTTCAGC 0.547 NA G||| 2220 0.443291 0.7428 0.3818 5008 , , NA 19359 0.246 NA 0.4314 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 G GLY/ARG 2922,1484 474.6+/-357.0 963,996,244 93 93 93 1111 3.9 0 11 dbSNP_83 93 3545,5053 629.9+/-398.3 740,2065,1494 yes missense TECTA NM_005422.2 125 1703,3061,1738 GG,GA,AA 41.2305,33.6813,49.7309 benign 371/2156 120989335 6467,6537 2203 4299 6502 SO:0001583 missense AF055136 CCDS8434.1 11q22-q24 2008-02-05 ENSG00000109927 ENSG00000109927 7007 11720 protein-coding gene gene with protein product 602574 DFNA12, DFNA8, DFNB21 NA 9503015, 9590290 Standard NM_005422 NM_005422 NA Approved uc010rzo.2 O75443 OTTHUMG00000149908 ENST00000392793.1:c.1111A>G chr11.hg19:g.120989335A>G ENSP00000376543:p.Arg371Gly NA hg19 CCDS8434.1 0.02 8.768745 CGCxGAG COVERED 1008 0.46153846153846156 356 0.7235772357723578 147 0.40607734806629836 170 0.2972027972027972 335 0.4419525065963061 G 3.893 -0.023615 0.07634 0.663187 0.412305 ENSG00000109927 ENST00000392793;ENST00000264037 T;T 0.58060 0.36;0.36 5.72 3.86 0.44501 von Willebrand factor, type D domain (3); 0.115400 0.64402 N 0.000018 T 0.00012 0.0000 N 0.00223 -1.815 0.50632 P 1.1899999999998023E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.47799 -0.9089 9 0.02654 T 1 . 11.7181 0.51666 0.1898:0.0:0.8102:0.0 rs612969;rs58667510;rs612969 371 O75443 TECTA_HUMAN G 371 ENSP00000376543:R371G;ENSP00000264037:R371G ENSP00000264037:R371G R + 1 2 TECTA 120494545 1.000000 0.71417 0.003000 0.11579 0.877000 0.50540 4.856000 0.62932 0.364000 0.24374 -0.213000 0.12676 AGA NOVEL TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313850.1 1 4.648572 KEEP 0 1 33 27 847 AA 0.999997 0.999997 0 + 11 60 374 0 0 23.571668 215 60 7923 288 ENST00000392793.1 0.048673 1 TECTA 7007 __UNKNOWN__ __UNKNOWN__ 11 121000774 121000774 __UNKNOWN__ Missense_Mutation SNP T T C rs520805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:121000774T>C ENST00000392793.1 + 10 3066 c.2795T>C c.(2794-2796)gTc>gCc p.V932A TECTA_ENST00000264037.2_Missense_Mutation_p.V932A O75443 TECTA_HUMAN tectorin alpha 932 NA V -> A (in dbSNP:rs520805). {ECO:0000269|PubMed:10987647, ECO:0000269|PubMed:9590290}. cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTGGTGAACGTCACTGCCTAT 0.592 NA T||| 1080 0.215655 0.2035 0.2205 5008 , , NA 18118 0.2381 NA 0.2286 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 T ALA/VAL 771,3635 314.1+/-293.5 69,633,1501 71 68 69 2795 4.7 1 11 dbSNP_83 69 1809,6789 324.9+/-316.7 195,1419,2685 yes missense TECTA NM_005422.2 64 264,2052,4186 CC,CT,TT 21.0398,17.4989,19.84 possibly-damaging 932/2156 121000774 2580,10424 2203 4299 6502 SO:0001583 missense AF055136 CCDS8434.1 11q22-q24 2008-02-05 ENSG00000109927 ENSG00000109927 7007 11720 protein-coding gene gene with protein product 602574 DFNA12, DFNA8, DFNB21 NA 9503015, 9590290 Standard NM_005422 NM_005422 NA Approved uc010rzo.2 O75443 OTTHUMG00000149908 ENST00000392793.1:c.2795T>C chr11.hg19:g.121000774T>C ENSP00000376543:p.Val932Ala NA hg19 CCDS8434.1 0.02 11.359297 ACGxCAC COVERED 507 0.23214285714285715 95 0.19308943089430894 77 0.212707182320442 168 0.2937062937062937 167 0.22031662269129287 T 4.083 0.013330 0.07912 0.174989 0.210398 ENSG00000109927 ENST00000392793;ENST00000264037 T;T 0.76060 -0.99;-0.99 5.78 4.65 0.58169 Uncharacterised domain, cysteine-rich (2); 0.199756 0.45361 N 0.000361 T 0.00012 0.0000 L 0.37800 1.135 0.30433 P 0.776963 B 0.10296 0.003 B 0.08055 0.003 T 0.07829 -1.0752 9 0.15952 T 0.53 . 11.707 0.51603 0.0:0.0688:0.0:0.9312 rs520805;rs58634707;rs520805 932 O75443 TECTA_HUMAN A 932 ENSP00000376543:V932A;ENSP00000264037:V932A ENSP00000264037:V932A V + 2 0 TECTA 120505984 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.885000 0.48570 1.026000 0.39733 0.528000 0.53228 GTC NOVEL TECTA-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313850.1 3 12.334339 KEEP 0 0 0 41 1249 TT 1 1 0 + 8 60 295 0 0 17.814823 252 60 8831 352 ENST00000392793.1 0.030769 1 SC5D 6309 __UNKNOWN__ __UNKNOWN__ 11 121178381 121178381 __UNKNOWN__ 3'UTR SNP G G A rs568068471 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:121178381G>A ENST00000392789.2 + 0 1297 SC5D_ENST00000534230.1_3'UTR|SC5D_ENST00000264027.4_3'UTR NM_001024956.2 NP_001020127.1 O75845 SC5D_HUMAN sterol-C5-desaturase NA NA cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046) NA TGATCCTAGTGGTAGGTCAGA 0.383 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 20278 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8435.1 11q23.3 2013-03-04 2013-03-04 2013-03-04 ENSG00000109929 ENSG00000109929 6309 1.14.21.6 Fatty acid hydroxylase domain containing 10547 protein-coding gene gene with protein product lathosterol oxidase 602286 sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like, sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like, sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like SC5DL NA 8976377 Standard NM_001024956 NM_006918 NA Approved uc001pxu.3 O75845 OTTHUMG00000166068 ENST00000392789.2:c.*160G>A chr11.hg19:g.121178381G>A NA O00119|Q6GTM5|Q9UK15 hg19 CCDS8435.1 0.02 11.305474 AGTxGTA COVERED NOVEL SC5D-002 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387702.1 1 12.640992 KEEP 0 0 0 42 1481 GG 1 1 0 + 8 60 295 0 0 17.746479 257 60 9669 358 ENST00000392789.2 0.030189 1 SORL1 6653 __UNKNOWN__ __UNKNOWN__ 11 121367626 121367626 __UNKNOWN__ Silent SNP T T C rs12364988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:121367626T>C ENST00000260197.7 + 6 936 c.807T>C c.(805-807)caT>caC p.H269H SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 269 NA cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165) early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888) p.H269H(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTGAACGACATGAACCCTCTG 0.408 NA T||| 2222 0.44369 0.4902 0.5101 5008 , , NA 20039 0.3115 NA 0.495 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 2210,2196 590.2+/-387.3 545,1120,538 87 81 83 807 -8.8 0.6 11 dbSNP_120 83 4471,4127 586.4+/-392.0 1201,2069,1029 no coding-synonymous SORL1 NM_003105.5 1746,3189,1567 CC,CT,TT 47.9995,49.8411,48.6235 269/2215 121367626 6681,6323 2203 4299 6502 SO:0001819 synonymous_variant Y08110 CCDS8436.1 11q23.2-q24.4 2014-06-05 2011-01-25 ENSG00000137642 ENSG00000137642 6653 Fibronectin type III domain containing 11185 protein-coding gene gene with protein product LDLR relative with 11 ligand-binding repeats 602005 chromosome 11 open reading frame 32, sortilin-related receptor, L(DLR class) A repeats-containing C11orf32 NA 9157966, 8940146 Standard NM_003105 NM_003105 NA Approved gp250, LR11, LRP9, SorLA, SorLA-1 uc001pxx.3 Q92673 OTTHUMG00000166057 ENST00000260197.7:c.807T>C chr11.hg19:g.121367626T>C NA B2RNX7|Q92856 hg19 CCDS8436.1 0.02 7.992659 ACAxGAA COVERED NOVEL SORL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387626.2 3 13.282542 KEEP 0 2 65 67 1974 TT 1 1 0 + 10 60 365 0 0 23.32192 225 60 8065 383 ENST00000260197.7 0.042553 1 SORL1 6653 __UNKNOWN__ __UNKNOWN__ 11 121504181 121504181 __UNKNOWN__ 3'UTR SNP A A C rs77931594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:121504181A>C ENST00000260197.7 + 0 10683 NM_003105.5 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing NA NA cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165) early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATAAAGGCCTATTCTACTCTT 0.303 NA A||| 273 0.0545128 0.0023 0.0908 5008 , , NA 20171 0.2014 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y08110 CCDS8436.1 11q23.2-q24.4 2014-06-05 2011-01-25 ENSG00000137642 ENSG00000137642 6653 Fibronectin type III domain containing 11185 protein-coding gene gene with protein product LDLR relative with 11 ligand-binding repeats 602005 chromosome 11 open reading frame 32, sortilin-related receptor, L(DLR class) A repeats-containing C11orf32 NA 9157966, 8940146 Standard NM_003105 NM_003105 NA Approved gp250, LR11, LRP9, SorLA, SorLA-1 uc001pxx.3 Q92673 OTTHUMG00000166057 ENST00000260197.7:c.*3909A>C chr11.hg19:g.121504181A>C NA B2RNX7|Q92856 hg19 CCDS8436.1 0.02 6.903281 CCTxTTC COVERED NOVEL SORL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387626.2 0 9.627086 KEEP 0 0 0 32 962 AA 0.999997 0.999997 0 + 7 60 246 0 0 15.569928 148 60 5401 225 ENST00000260197.7 0.045161 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 121514119 121514119 __UNKNOWN__ IGR SNP T T C rs11218367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:121514119T>C NA NA SORL1 (9717 upstream) : RNU6-256P (360943 downstream) NA NA NA actggccattttcacttcttt 0.468 NA T||| 1803 0.360024 0.0333 0.3833 5008 , , NA 20944 0.5456 NA 0.4254 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.121514119T>C NA hg19 0.02 -0.219317 ATTxTCA UNCOVERED NOVEL 0 0 2.407487 KEEP 5 0 0 8 262 TT 0 0 0 7 40 270 0 0 23.902358 18 40 630 45 0.28 0.552887 UBASH3B 84959 __UNKNOWN__ __UNKNOWN__ 11 122526688 122526688 __UNKNOWN__ 5'UTR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122526688C>G ENST00000284273.5 + 0 306 UBASH3B_ENST00000525711.1_3'UTR NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B NA NA negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CCTGGCCCAGCCCGACTCCCT 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB075839 CCDS31694.1 11q24.1 2010-04-28 2010-04-28 ENSG00000154127 ENSG00000154127 84959 29884 protein-coding gene gene with protein product SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate 609201 NA 11853319, 12370296 Standard NM_032873 NM_032873 NA Approved KIAA1959, STS-1 uc001pyi.4 Q8TF42 OTTHUMG00000166025 ENST00000284273.5:c.-70C>G chr11.hg19:g.122526688C>G NA Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2 hg19 CCDS31694.1 0.02 2.24468 CAGxCCG COVERED NOVEL UBASH3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387499.1 0 9.329163 KEEP 0 0 0 31 1073 CC 0.999997 0.990961 0 + 4 60 150 1 0 10.472194 58 60 2107 122 ENST00000284273.5 0.064516 0.990964 UBASH3B 84959 __UNKNOWN__ __UNKNOWN__ 11 122681534 122681534 __UNKNOWN__ 3'UTR SNP A A G rs1557455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122681534A>G ENST00000284273.5 + 0 3265 NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B NA NA negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein tyrosine phosphatase activity (GO:0004725) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) TATTATTTGCAGCAAGAAGTT 0.363 NA A||| 577 0.115216 0.1021 0.1023 5008 , , NA 21349 0.2629 NA 0.0239 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075839 CCDS31694.1 11q24.1 2010-04-28 2010-04-28 ENSG00000154127 ENSG00000154127 84959 29884 protein-coding gene gene with protein product SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate 609201 NA 11853319, 12370296 Standard NM_032873 NM_032873 NA Approved KIAA1959, STS-1 uc001pyi.4 Q8TF42 OTTHUMG00000166025 ENST00000284273.5:c.*940A>G chr11.hg19:g.122681534A>G NA Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2 hg19 CCDS31694.1 0.02 10.23868 TGCxGCA COVERED NOVEL UBASH3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387499.1 3 9.62902 KEEP 0 0 0 32 999 AA 0.999997 0.999997 0 + 10 60 344 0 0 20.553862 264 60 9826 353 ENST00000284273.5 0.036496 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 122709178 122709178 __UNKNOWN__ IGR SNP T T C rs3134425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122709178T>C NA NA UBASH3B (23997 upstream) : CRTAM (29 downstream) NA NA NA TCTCCCCCTTTAAAAGAAACT 0.502 NA C||| 3594 0.717652 0.7595 0.7161 5008 , , NA 20450 0.7778 NA 0.6083 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA 0 C 1002,382 369,264,59 140 115 122 1.6 1 11 dbSNP_103 122 1957,1225 602,753,236 no near-gene-5 971,1017,295 CC,CT,TT 38.4978,27.6012,35.1949 122709178 2959,1607 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.122709178T>C NA hg19 0.02 20.413269 CTTxAAA COVERED NOVEL 0 3 18.906901 KEEP 0 0 0 63 1844 TT 1 1 0 35 60 1331 1 0 96.755981 407 60 14520 612 0.079186 1 CRTAM 56253 __UNKNOWN__ __UNKNOWN__ 11 122742428 122742428 __UNKNOWN__ 3'UTR SNP T T G rs7126620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122742428T>G ENST00000227348.4 + 0 1550 CRTAM_ENST00000533709.1_3'UTR NM_019604.2 NP_062550.2 cytotoxic and regulatory T cell molecule NA NA breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGGAACAGGATTTTTTGATGC 0.363 NA T||| 1375 0.274561 0.3956 0.366 5008 , , NA 18545 0.2629 NA 0.166 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF001622 CCDS8437.1 11q24.1 2013-01-11 ENSG00000109943 ENSG00000109943 56253 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 24313 protein-coding gene gene with protein product class I MHC restricted T cell associated molecule 612597 NA 10811014, 16300832 Standard NM_019604 NM_019604 NA Approved CD355 uc001pyj.3 O95727 OTTHUMG00000166026 ENST00000227348.4:c.*321T>G chr11.hg19:g.122742428T>G NA hg19 CCDS8437.1 0.02 2.206709 GGAxTTT COVERED NOVEL CRTAM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387507.1 0 3.00802 KEEP 0 0 0 10 310 TT 0.992708 0.992513 0 + 5 60 194 0 0 13.426544 84 60 2956 115 ENST00000227348.4 0.05618 0.999804 C11orf63 79864 __UNKNOWN__ __UNKNOWN__ 11 122776007 122776007 __UNKNOWN__ Intron SNP T T C rs74695569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122776007T>C ENST00000531316.1 + 2 956 C11orf63_ENST00000227349.2_Intron|C11orf63_ENST00000307257.6_3'UTR Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 NA NA axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TGTCCAGGGATACAGGACAAG 0.438 NA T||| 482 0.096246 0.0 0.0086 5008 , , NA 18129 0.2371 NA 0.0169 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 T , 10,1374 0,10,682 52 43 45 , -1.5 0 11 dbSNP_132 45 95,3087 3,89,1499 no intron,utr-3 C11orf63 NM_024806.2,NM_199124.1 , 3,99,2181 CC,CT,TT 2.9855,0.7225,2.2996 , , 122776007 105,4461 692 1591 2283 SO:0001627 intron_variant BC068507 CCDS8438.1, CCDS8439.1 11q24.1 2012-05-25 ENSG00000109944 ENSG00000109944 79864 26288 protein-coding gene gene with protein product NA 12477932 Standard NM_024806 NM_024806 NA Approved FLJ23554 uc001pym.4 Q6NUN7 OTTHUMG00000166027 ENST00000531316.1:c.864+855T>C chr11.hg19:g.122776007T>C NA A8K6G0|Q96GB5|Q9H5D6 hg19 CCDS8438.1 0.02 22.365349 GGAxACA COVERED NOVEL C11orf63-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387511.1 0 10.826226 KEEP 0 0 0 36 1085 TT 0.999999 0.999999 0 + 19 60 708 0 0 44.385628 507 60 18019 659 ENST00000531316.1 0.036122 1 C11orf63 79864 __UNKNOWN__ __UNKNOWN__ 11 122795688 122795688 __UNKNOWN__ Silent SNP T T C rs11218891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122795688T>C ENST00000531316.1 + 3 1040 c.948T>C c.(946-948)gaT>gaC p.D316D C11orf63_ENST00000227349.2_Silent_p.D316D Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 316 NA axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) ATCCTGAAGATAAATGGCATC 0.413 NA C||| 903 0.180312 0.0764 0.2104 5008 , , NA 23932 0.2024 NA 0.2903 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 C 495,3909 780.0+/-414.4 36,423,1743 170 143 153 948 6 1 11 dbSNP_120 153 2635,5963 686.7+/-404.1 387,1861,2051 no coding-synonymous C11orf63 NM_024806.2 423,2284,3794 CC,CT,TT 30.6467,11.2398,24.0732 316/779 122795688 3130,9872 2202 4299 6501 SO:0001819 synonymous_variant BC068507 CCDS8438.1, CCDS8439.1 11q24.1 2012-05-25 ENSG00000109944 ENSG00000109944 79864 26288 protein-coding gene gene with protein product NA 12477932 Standard NM_024806 NM_024806 NA Approved FLJ23554 uc001pym.4 Q6NUN7 OTTHUMG00000166027 ENST00000531316.1:c.948T>C chr11.hg19:g.122795688T>C NA A8K6G0|Q96GB5|Q9H5D6 hg19 CCDS8438.1 0.02 6.346062 AGAxAAA COVERED NOVEL C11orf63-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387511.1 0 6.921402 KEEP 0 0 0 23 737 TT 0.999892 0.999892 0 + 7 60 247 0 0 15.327188 166 60 6121 228 ENST00000531316.1 0.040462 1 C11orf63 79864 __UNKNOWN__ __UNKNOWN__ 11 122805487 122805487 __UNKNOWN__ Silent SNP A A G rs34653644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122805487A>G ENST00000531316.1 + 4 1430 c.1338A>G c.(1336-1338)aaA>aaG p.K446K C11orf63_ENST00000227349.2_Silent_p.K446K Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 446 NA axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CTCCACCAAAACAGGCTTTTG 0.398 NA A||| 227 0.0453275 0.0 0.0014 5008 , , NA 20570 0.0823 NA 0.0109 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 A 18,4386 24.3+/-50.5 0,18,2184 89 88 88 1338 -7.4 0 11 dbSNP_126 88 160,8438 76.3+/-139.0 1,158,4140 no coding-synonymous C11orf63 NM_024806.2 1,176,6324 GG,GA,AA 1.8609,0.4087,1.369 446/779 122805487 178,12824 2202 4299 6501 SO:0001819 synonymous_variant BC068507 CCDS8438.1, CCDS8439.1 11q24.1 2012-05-25 ENSG00000109944 ENSG00000109944 79864 26288 protein-coding gene gene with protein product NA 12477932 Standard NM_024806 NM_024806 NA Approved FLJ23554 uc001pym.4 Q6NUN7 OTTHUMG00000166027 ENST00000531316.1:c.1338A>G chr11.hg19:g.122805487A>G NA A8K6G0|Q96GB5|Q9H5D6 hg19 CCDS8438.1 0.02 18.929034 AAAxCAG COVERED NOVEL C11orf63-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387511.1 0 18.355054 KEEP 0 0 0 61 1946 AA 1 1 0 + 15 60 545 0 0 33.828868 415 60 14728 579 ENST00000531316.1 0.034884 1 C11orf63 79864 __UNKNOWN__ __UNKNOWN__ 11 122830264 122830264 __UNKNOWN__ 3'UTR SNP C C A rs76252188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:122830264C>A ENST00000531316.1 + 0 2540 C11orf63_ENST00000227349.2_3'UTR Q6NUN7 CK063_HUMAN chromosome 11 open reading frame 63 NA NA axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TATCATCTATCTGCCGTCCAT 0.373 NA C||| 288 0.057508 0.0651 0.0058 5008 , , NA 17115 0.0754 NA 0.0119 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC068507 CCDS8438.1, CCDS8439.1 11q24.1 2012-05-25 ENSG00000109944 ENSG00000109944 79864 26288 protein-coding gene gene with protein product NA 12477932 Standard NM_024806 NM_024806 NA Approved FLJ23554 uc001pym.4 Q6NUN7 OTTHUMG00000166027 ENST00000531316.1:c.*111C>A chr11.hg19:g.122830264C>A NA A8K6G0|Q96GB5|Q9H5D6 hg19 CCDS8438.1 0.02 10.613305 TATxTGC COVERED NOVEL C11orf63-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387511.1 5 7.524622 KEEP 0 0 0 25 899 CC 0.999931 0.999931 0 + 9 60 333 0 0 20.23816 277 60 10554 346 ENST00000531316.1 0.031469 1 GRAMD1B 57476 __UNKNOWN__ __UNKNOWN__ 11 123454978 123454978 __UNKNOWN__ Intron SNP T T C rs58457879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123454978T>C ENST00000529750.1 + 3 561 GRAMD1B_ENST00000456860.2_Intron|GRAMD1B_ENST00000322282.7_Intron NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCCCATTTCTTCCCTGACTAA 0.502 NA -||| 1863 0.372005 0.3154 0.3545 5008 , , NA 11311 0.499 NA 0.3668 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 1113,2635 171,771,932 81 74 76 1.2 0 11 dbSNP_129 76 2528,5616 418,1692,1962 no intron GRAMD1B NM_020716.1 589,2463,2894 CC,CT,TT 31.0413,29.6958,30.6172 123454978 3641,8251 1874 4072 5946 SO:0001627 intron_variant AB033027 CCDS53720.1, CCDS66253.1, CCDS66254.1 11q24.1 2005-11-02 ENSG00000023171 57476 29214 protein-coding gene gene with protein product NA 10574462 Standard XM_370660 NM_001286564 NA Approved KIAA1201 uc001pyx.2 Q3KR37 ENST00000529750.1:c.235-42T>C chr11.hg19:g.123454978T>C NA Q6UW85|Q9ULL9 hg19 CCDS53720.1 0.02 2.367872 TCTxCCC COVERED NOVEL GRAMD1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387404.2 0 6.582643 KEEP 0 0 0 22 640 TT 0.999892 0.999299 0 + 4 60 161 0 0 11.068542 78 60 2817 131 ENST00000529750.1 0.04878 0.999407 GRAMD1B 57476 __UNKNOWN__ __UNKNOWN__ 11 123468140 123468140 __UNKNOWN__ Intron SNP T T C rs7104389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123468140T>C ENST00000529750.1 + 6 867 GRAMD1B_ENST00000456860.2_Intron|GRAMD1B_ENST00000322282.7_Intron NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CAAACCTTGGTGCCACACTTA 0.512 NA T||| 1760 0.351438 0.2632 0.3429 5008 , , NA 16574 0.495 NA 0.3529 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033027 CCDS53720.1, CCDS66253.1, CCDS66254.1 11q24.1 2005-11-02 ENSG00000023171 57476 29214 protein-coding gene gene with protein product NA 10574462 Standard XM_370660 NM_001286564 NA Approved KIAA1201 uc001pyx.2 Q3KR37 ENST00000529750.1:c.540+1395T>C chr11.hg19:g.123468140T>C NA Q6UW85|Q9ULL9 hg19 CCDS53720.1 0.02 -0.368469 TGGxGCC COVERED NOVEL GRAMD1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387404.2 2 4.813408 KEEP 0 0 0 16 493 TT 0.997832 0.897364 0 + 3 60 110 0 0 7.739179 39 60 1420 67 ENST00000529750.1 0.071429 0.899314 GRAMD1B 57476 __UNKNOWN__ __UNKNOWN__ 11 123474285 123474285 __UNKNOWN__ Intron SNP C C T rs7114319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123474285C>T ENST00000529750.1 + 8 1064 GRAMD1B_ENST00000456860.2_Intron|GRAMD1B_ENST00000322282.7_Intron NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) cagaggcagccgtgcgagtgc 0.592 NA C||| 74 0.0147764 0.0 0.0 5008 , , NA 16761 0.0724 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 6,3808 0,6,1901 28 27 27 -2.8 0 11 dbSNP_116 27 0,8206 0,0,4103 no intron GRAMD1B NM_020716.1 0,6,6004 TT,TC,CC 0.0,0.1573,0.0499 123474285 6,12014 1907 4103 6010 SO:0001627 intron_variant AB033027 CCDS53720.1, CCDS66253.1, CCDS66254.1 11q24.1 2005-11-02 ENSG00000023171 57476 29214 protein-coding gene gene with protein product NA 10574462 Standard XM_370660 NM_001286564 NA Approved KIAA1201 uc001pyx.2 Q3KR37 ENST00000529750.1:c.737+36C>T chr11.hg19:g.123474285C>T NA Q6UW85|Q9ULL9 hg19 CCDS53720.1 0.02 4.069998 AGCxGTG COVERED NOVEL GRAMD1B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000387404.2 2 11.73391 KEEP 0 0 0 39 1221 CC 1 1 0 + 7 60 259 0 0 16.983715 142 60 4342 205 ENST00000529750.1 0.04698 1 ZNF202 7753 __UNKNOWN__ __UNKNOWN__ 11 123595492 123595492 __UNKNOWN__ 3'UTR SNP T T G rs17127621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123595492T>G ENST00000529691.1 - 0 3379 ZNF202_ENST00000336139.4_3'UTR|ZNF202_ENST00000530393.1_3'UTR O95125 ZN202_HUMAN zinc finger protein 202 NA NA lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CACAAATACATGAAAGCCATT 0.438 NA T||| 321 0.0640974 0.0363 0.1326 5008 , , NA 22097 0.1359 NA 0.0249 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF027219 CCDS8443.1 11q23.3 2013-01-09 ENSG00000166261 7753 Zinc fingers, C2H2-type, -, -, - 12994 protein-coding gene gene with protein product 603430 NA 9790754 Standard NM_003455 XM_005271659 NA Approved ZKSCAN10, ZSCAN42 uc001pzd.1 O95125 ENST00000529691.1:c.*1213A>C chr11.hg19:g.123595492T>G NA B0LPH9|Q4JG21|Q9H1B9|Q9NSM4 hg19 CCDS8443.1 0.02 6.895999 ACAxGAA COVERED NOVEL ZNF202-003 PUTATIVE alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387419.1 1 9.025805 KEEP 0 0 0 30 925 TT 0.999997 0.999997 0 - 7 60 263 0 0 16.626411 183 60 6670 244 ENST00000529691.1 0.036842 1 OR6M1 390261 __UNKNOWN__ __UNKNOWN__ 11 123676231 123676231 __UNKNOWN__ Missense_Mutation SNP G G T rs4936845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123676231G>T ENST00000309154.2 - 1 864 c.827C>A c.(826-828)aCa>aAa p.T276K NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 276 NA T -> K (in dbSNP:rs4936845). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GGTCACCACTGTGATGAGGAC 0.478 NA G||| 1219 0.243411 0.1029 0.317 5008 , , NA 17328 0.2946 NA 0.2853 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 G LYS/THR 540,3864 243.4+/-253.1 44,452,1706 127 120 122 827 3.5 0.3 11 dbSNP_111 122 2568,6030 420.5+/-353.4 389,1790,2120 yes missense OR6M1 NM_001005325.1 78 433,2242,3826 TT,TG,GG 29.8674,12.2616,23.904 possibly-damaging 276/314 123676231 3108,9894 2202 4299 6501 SO:0001583 missense AB065762 CCDS31696.1 11q24.1 2012-08-09 ENSG00000196099 ENSG00000196099 390261 GPCR / Class A : Olfactory receptors 14711 protein-coding gene gene with protein product NA Standard NM_001005325 NM_001005325 NA Approved uc010rzz.2 Q8NGM8 OTTHUMG00000166012 ENST00000309154.2:c.827C>A chr11.hg19:g.123676231G>T ENSP00000311038:p.Thr276Lys NA B2RNK0|Q6IEW9|Q96R37 hg19 CCDS31696.1 0.02 13.911918 ACTxTGA COVERED 526 0.24084249084249085 54 0.10975609756097561 94 0.2596685082872928 161 0.28146853146853146 217 0.2862796833773087 G 13.48 2.251267 0.39797 0.122616 0.298674 ENSG00000196099 ENST00000309154 T 0.00265 8.39 3.48 3.48 0.39840 GPCR, rhodopsin-like superfamily (1); 0.000000 0.34200 U 0.004164 T 0.00012 0.0000 M 0.92970 3.365 0.80722 P 0.0 P 0.41188 0.741 P 0.53809 0.735 T 0.04153 -1.0973 9 0.87932 D 0 . 6.5789 0.22583 0.1324:0.0:0.8676:0.0 rs4936845;rs52810786;rs56873896;rs4936845 276 Q8NGM8 OR6M1_HUMAN K 276 ENSP00000311038:T276K ENSP00000311038:T276K T - 2 0 OR6M1 123181441 0.010000 0.17322 0.295000 0.24960 0.731000 0.41821 1.794000 0.38774 1.754000 0.51921 0.655000 0.94253 ACA NOVEL OR6M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387437.1 3 11.437574 KEEP 0 0 0 38 1361 GG 1 1 0 - 11 60 387 0 0 22.375093 366 60 13778 462 ENST00000309154.2 0.029178 1 OR6M1 390261 __UNKNOWN__ __UNKNOWN__ 11 123676413 123676413 __UNKNOWN__ Silent SNP G G A rs7952150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123676413G>A ENST00000309154.2 - 1 682 c.645C>T c.(643-645)taC>taT p.Y215Y NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 215 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TTATGTACACGTAGGACCCAG 0.488 NA G||| 1120 0.223642 0.3177 0.2666 5008 , , NA 20315 0.1905 NA 0.1869 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 G 1197,3207 417.8+/-338.1 173,851,1178 72 64 66 645 -0.8 0.1 11 dbSNP_116 66 1397,7201 270.9+/-289.3 107,1183,3009 no coding-synonymous OR6M1 NM_001005325.1 280,2034,4187 AA,AG,GG 16.248,27.1798,19.9508 215/314 123676413 2594,10408 2202 4299 6501 SO:0001819 synonymous_variant AB065762 CCDS31696.1 11q24.1 2012-08-09 ENSG00000196099 ENSG00000196099 390261 GPCR / Class A : Olfactory receptors 14711 protein-coding gene gene with protein product NA Standard NM_001005325 NM_001005325 NA Approved uc010rzz.2 Q8NGM8 OTTHUMG00000166012 ENST00000309154.2:c.645C>T chr11.hg19:g.123676413G>A NA B2RNK0|Q6IEW9|Q96R37 hg19 CCDS31696.1 0.02 8.877798 CACxTAG COVERED NOVEL OR6M1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387437.1 1 8.726583 KEEP 0 0 0 29 984 GG 0.999997 0.999997 0 - 14 60 515 0 0 35.417249 211 60 7399 297 ENST00000309154.2 0.062222 1 TMEM225 338661 __UNKNOWN__ __UNKNOWN__ 11 123753686 123753686 __UNKNOWN__ 3'UTR SNP G G A rs1054041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123753686G>A ENST00000375026.2 - 0 1053 NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 NA NA negative regulation of phosphatase activity (GO:0010923) integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GAAACTATTCGTTCAGCAGGC 0.303 NA G||| 2270 0.453275 0.3608 0.5447 5008 , , NA 14722 0.5327 NA 0.4364 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY634366 CCDS31697.1 11q24.1 2014-06-13 ENSG00000204300 ENSG00000204300 338661 32390 protein-coding gene gene with protein product PMP22 claudin domain containing, protein phosphatase 1, regulatory subunit 154 NA Standard NM_001013743 XM_006718832 NA Approved PMP22CD, PPP1R154 uc001pzi.3 Q6GV28 OTTHUMG00000165959 ENST00000375026.2:c.*159C>T chr11.hg19:g.123753686G>A NA hg19 CCDS31697.1 0.02 4.049876 TTCxTTC COVERED NOVEL TMEM225-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387260.1 1 6.320187 KEEP 0 0 0 21 715 GG 0.999869 0.999867 0 - 9 60 324 0 0 22.918265 108 60 3644 162 ENST00000375026.2 0.076923 0.999998 OR10G9 219870 __UNKNOWN__ __UNKNOWN__ 11 123893801 123893801 __UNKNOWN__ Missense_Mutation SNP A A G rs74791330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:123893801A>G ENST00000375024.1 + 1 82 c.82A>G c.(82-84)Atc>Gtc p.I28V NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 28 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.I28V(3) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ACTCTTTGGAATCTTCCTGGT 0.572 NA NA NA NA NA NA NA NA NA NA NA 3 Substitution - Missense(3) lung(1)|stomach(1)|skin(1) 200 185 190 NA NA 11 NA 123893801 2201 4299 6500 SO:0001583 missense AB065756 CCDS31703.1 11q24.1 2012-08-09 ENSG00000236981 ENSG00000236981 219870 GPCR / Class A : Olfactory receptors 15129 protein-coding gene gene with protein product OR10G10P NA Standard NM_001001953 NM_001001953 NA Approved uc010sad.2 Q8NGN4 OTTHUMG00000165967 ENST00000375024.1:c.82A>G chr11.hg19:g.123893801A>G ENSP00000364164:p.Ile28Val NA hg19 CCDS31703.1 0.02 14.981914 GGAxTCT COVERED . . . . . . . . . . G 0.717 -0.785033 0.02907 . . ENSG00000236981 ENST00000375024 T 0.03035 4.07 3.33 -6.67 0.01783 . 0.824866 0.10366 N 0.683403 T 0.01189 0.0039 N 0.04655 -0.195 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.39035 -0.9633 10 0.02654 T 1 . 4.5432 0.12067 0.1864:0.3395:0.3804:0.0938 . 28 Q8NGN4 O10G9_HUMAN V 28 ENSP00000364164:I28V ENSP00000364164:I28V I + 1 0 OR10G9 123399011 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -4.504000 0.00224 -2.845000 0.00333 -2.883000 0.00097 ATC NOVEL OR10G9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387269.1 1 9.621623 KEEP 22 0 0 32 979 AA 0.999997 0.999997 0 + 19 49 755 0 0 53.320995 299 60 10892 446 ENST00000375024.1 0.059748 1 VWA5A 4013 __UNKNOWN__ __UNKNOWN__ 11 124015994 124015994 __UNKNOWN__ Silent SNP C C T rs1056615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124015994C>T ENST00000456829.2 + 18 2456 c.2205C>T c.(2203-2205)caC>caT p.H735H VWA5A_ENST00000392748.1_Silent_p.H735H|VWA5A_ENST00000360334.4_3'UTR NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 735 NA autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TCTGGCTGCACAGCAATGGTA 0.562 NA T||| 3028 0.604633 0.7821 0.5403 5008 , , NA 20325 0.7093 NA 0.5229 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 T , 3119,1283 436.4+/-344.6 1090,939,172 125 117 120 2205,2205 -3.9 0 11 dbSNP_86 120 4500,4098 562.1+/-387.9 1178,2144,977 no coding-synonymous,coding-synonymous VWA5A NM_001130142.1,NM_014622.4 , 2268,3083,1149 TT,TC,CC 47.6622,29.1458,41.3923 , 735/787,735/787 124015994 7619,5381 2201 4299 6500 SO:0001819 synonymous_variant AF002672 CCDS8444.1, CCDS8445.1 11q24.1 2008-07-25 2008-07-25 2008-07-25 ENSG00000110002 ENSG00000110002 4013 6658 protein-coding gene gene with protein product 602929 loss of heterozygosity, 11, chromosomal region 2, gene A LOH11CR2A NA 9417908, 14504409 Standard NM_014622 NM_001130142 NA Approved BCSC-1 uc001pzt.3 O00534 OTTHUMG00000165971 ENST00000456829.2:c.2205C>T chr11.hg19:g.124015994C>T NA Q6UN19|Q6UN20|Q9BVF8 hg19 CCDS8444.1 0.02 18.902356 GCAxAGC COVERED NOVEL VWA5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387273.1 2 11.572575 KEEP 0 1 30 49 1755 CC 1 1 0 + 15 60 541 0 0 32.64041 440 60 16653 631 ENST00000456829.2 0.032967 1 VWA5A 4013 __UNKNOWN__ __UNKNOWN__ 11 124016740 124016740 __UNKNOWN__ 3'UTR SNP A A T rs9326269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124016740A>T ENST00000456829.2 + 0 2700 VWA5A_ENST00000392748.1_3'UTR|VWA5A_ENST00000360334.4_3'UTR NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A NA NA autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 GTTCTTGTGTATTATAACTCT 0.363 NA T||| 3518 0.702476 0.9017 0.6124 5008 , , NA 21172 0.7788 NA 0.6074 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF002672 CCDS8444.1, CCDS8445.1 11q24.1 2008-07-25 2008-07-25 2008-07-25 ENSG00000110002 ENSG00000110002 4013 6658 protein-coding gene gene with protein product 602929 loss of heterozygosity, 11, chromosomal region 2, gene A LOH11CR2A NA 9417908, 14504409 Standard NM_014622 NM_001130142 NA Approved BCSC-1 uc001pzt.3 O00534 OTTHUMG00000165971 ENST00000456829.2:c.*88A>T chr11.hg19:g.124016740A>T NA Q6UN19|Q6UN20|Q9BVF8 hg19 CCDS8444.1 0.02 13.414312 TGTxTTA COVERED NOVEL VWA5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387273.1 2 6.151482 KEEP 0 1 33 32 964 AA 0.999998 0.999998 0 + 11 60 413 0 0 25.582975 321 60 11729 388 ENST00000456829.2 0.033133 1 OR10D3 26497 __UNKNOWN__ __UNKNOWN__ 11 124056581 124056581 __UNKNOWN__ Missense_Mutation SNP A A G rs2466584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124056581A>G ENST00000318666.6 + 1 659 c.605A>G c.(604-606)aAc>aGc p.N202S Q8NH80 O10D3_HUMAN olfactory receptor, family 10, subfamily D, member 3 (non-functional) 202 NA N -> S (in Ref. 2; X64983). {ECO:0000305}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA AGCTTCACCAACGTTGGCCTC 0.473 NA A||| 806 0.160942 0.1029 0.1196 5008 , , NA 24286 0.1558 NA 0.1233 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense X64983 11q24.2 2014-04-01 2010-06-25 2010-06-25 ENSG00000197309 ENSG00000197309 26497 GPCR / Class A : Olfactory receptors 8168 other unknown olfactory receptor, family 10, subfamily D, member 3 pseudogene OR10D3P NA 1370859 Standard NG_004125 NA Approved HTPCRX09 uc001pzv.2 Q8NH80 OTTHUMG00000165166 ENST00000318666.6:c.605A>G chr11.hg19:g.124056581A>G ENSP00000323895:p.Asn202Ser NA hg19 0.02 8.763121 CCAxCGT COVERED 294 0.1346153846153846 50 0.1016260162601626 47 0.1298342541436464 103 0.18006993006993008 94 0.12401055408970976 A 4.632 0.117514 0.08881 . . ENSG00000197309 ENST00000318666 T 0.00115 8.71 5.08 1.17 0.20885 GPCR, rhodopsin-like superfamily (1); 0.253319 0.27406 N 0.019506 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.23185 0.081 B 0.35510 0.204 T 0.22243 -1.0222 8 0.41790 T 0.15 -10.5454 1.1556 0.01795 0.4536:0.2401:0.173:0.1333 rs2466584;rs59131068;rs2466584 202 Q8NH80 O10D3_HUMAN S 202 ENSP00000323895:N202S ENSP00000323895:N202S N + 2 0 OR10D3 123561791 0.000000 0.05858 0.319000 0.25293 0.176000 0.22953 -0.933000 0.03959 0.777000 0.33496 -0.264000 0.10439 AAC NOVEL OR10D3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382394.2 1 3.847769 KEEP 0 1 38 26 831 AA 0.999988 0.999988 0 + 9 60 339 0 0 21.565516 229 60 8152 308 ENST00000318666.6 0.037815 1 OR10D3 26497 __UNKNOWN__ __UNKNOWN__ 11 124056787 124056787 __UNKNOWN__ Missense_Mutation SNP G G A rs2512226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124056787G>A ENST00000318666.6 + 1 865 c.811G>A c.(811-813)Gtg>Atg p.V271M Q8NH80 O10D3_HUMAN olfactory receptor, family 10, subfamily D, member 3 (non-functional) 271 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA GCTGGGAACCGTGGTACAAAT 0.488 NA G||| 2460 0.491214 0.4198 0.4755 5008 , , NA 19532 0.5734 NA 0.5318 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense X64983 11q24.2 2014-04-01 2010-06-25 2010-06-25 ENSG00000197309 ENSG00000197309 26497 GPCR / Class A : Olfactory receptors 8168 other unknown olfactory receptor, family 10, subfamily D, member 3 pseudogene OR10D3P NA 1370859 Standard NG_004125 NA Approved HTPCRX09 uc001pzv.2 Q8NH80 OTTHUMG00000165166 ENST00000318666.6:c.811G>A chr11.hg19:g.124056787G>A ENSP00000323895:p.Val271Met NA hg19 0.02 8.4555 ACCxTGG COVERED 1123 0.5141941391941391 198 0.4024390243902439 182 0.5027624309392266 348 0.6083916083916084 395 0.521108179419525 G 0.718 -0.784616 0.02907 . . ENSG00000197309 ENST00000318666 T 0.00265 8.39 5.27 -8.57 0.00900 . 0.696409 0.11841 N 0.524307 T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.41610 -0.9499 6 0.30078 T 0.28 -1.7197 0.2323 0.00181 0.3507:0.1751:0.208:0.2662 rs2512226;rs60332830;rs2512226 . . . M 271 ENSP00000323895:V271M ENSP00000323895:V271M V + 1 0 OR10D3 123561997 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.169000 0.03120 -1.976000 0.00996 -3.424000 0.00037 GTG NOVEL OR10D3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000382394.2 0 2.442625 KEEP 0 1 31 19 666 GG 0.999863 0.999863 0 + 11 60 396 0 0 26.239369 194 60 6637 248 ENST00000318666.6 0.053659 1 OR8D2 283160 __UNKNOWN__ __UNKNOWN__ 11 124190137 124190137 __UNKNOWN__ 5'UTR SNP A A G rs2466621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124190137A>G ENST00000357438.2 - 0 47 NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAGAAAAGAGAGACATTAGAT 0.403 NA a||| 1393 0.278155 0.4539 0.2017 5008 , , NA 20178 0.1905 NA 0.1292 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 G 1793,2605 370,1053,776 20 22 21 -0.1 0 11 dbSNP_100 21 1250,7326 117,1016,3155 no near-gene-5 487,2069,3931 GG,GA,AA 14.5756,40.7685,23.4546 124190137 3043,9931 2199 4288 6487 SO:0001623 5_prime_UTR_variant AF162668 CCDS31707.1 11q24.1 2012-08-09 ENSG00000197263 ENSG00000197263 283160 GPCR / Class A : Olfactory receptors 8482 protein-coding gene gene with protein product NA Standard NM_001002918 NM_001002918 NA Approved uc010sah.2 Q9GZM6 OTTHUMG00000165978 ENST00000357438.2:c.-44T>C chr11.hg19:g.124190137A>G NA B9EH49|Q6IFR0 hg19 CCDS31707.1 0.02 20.153616 GAGxGAC COVERED NOVEL OR8D2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387286.1 3 5.683124 KEEP 0 2 63 41 1277 AA 1 1 0 - 19 60 682 0 0 41.75119 509 60 18540 656 ENST00000357438.2 0.035985 1 OR8B4 283162 __UNKNOWN__ __UNKNOWN__ 11 124293857 124293857 __UNKNOWN__ Missense_Mutation SNP A A C rs79770470 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124293857A>C ENST00000356130.3 - 1 932 c.911T>G c.(910-912)cTg>cGg p.L304R NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 304 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CACTCTCTTCAGGGTTTTGCC 0.428 NA A||| 15 0.00299521 0.0 0.0 5008 , , NA 17636 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 72 73 72 NA NA 11 NA 124293857 2201 4299 6500 SO:0001583 missense AB065831 CCDS31710.1 11q24 2012-08-09 2001-06-29 ENSG00000198657 ENSG00000198657 283162 GPCR / Class A : Olfactory receptors 8473 protein-coding gene gene with protein product OR8B4P NA Standard NM_001005196 NM_001005196 NA Approved uc010sak.2 Q96RC9 OTTHUMG00000165916 ENST00000356130.3:c.911T>G chr11.hg19:g.124293857A>C ENSP00000348449:p.Leu304Arg NA B2RNF8|Q6IFQ7 hg19 CCDS31710.1 0.02 22.823091 TTCxGGG COVERED 10 0.004578754578754579 0 0.0 0 0.0 10 0.017482517482517484 0 0.0 a 19.64 3.865772 0.71949 . . ENSG00000198657 ENST00000356130 T 0.50548 0.74 4.19 4.19 0.49359 . 0.202836 0.24256 N 0.040122 T 0.51381 0.1671 M 0.80982 2.52 0.09310 N 1 D 0.56746 0.977 P 0.62649 0.905 T 0.56038 -0.8045 10 0.72032 D 0.01 . 13.9593 0.64168 1.0:0.0:0.0:0.0 . 304 Q96RC9 OR8B4_HUMAN R 304 ENSP00000348449:L304R ENSP00000348449:L304R L - 2 0 OR8B4 123799067 0.049000 0.20398 0.181000 0.23098 0.865000 0.49528 3.431000 0.52814 2.119000 0.64992 0.533000 0.62120 CTG NOVEL OR8B4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387055.1 1 10.83264 KEEP 0 0 0 36 1143 AA 0.999999 0.999999 0 - 20 60 695 0 0 41.191728 567 60 21170 754 ENST00000356130.3 0.034072 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 11 124309966 124309966 __UNKNOWN__ IGR SNP T T C rs10893221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124309966T>C NA NA OR8B4 (15177 upstream) : OR8B8 (55 downstream) NA NA NA GAGGAAAAATTATATTTCTTC 0.363 NA T||| 1359 0.271366 0.1067 0.3357 5008 , , NA 21545 0.5317 NA 0.2644 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr11.hg19:g.124309966T>C NA hg19 0.02 13.270496 AATxATA COVERED NOVEL 0 2 4.512446 KEEP 0 0 0 15 443 TT 0.99649 0.99649 0 12 60 451 0 0 28.335753 325 60 11589 391 0.035608 1 PANX3 116337 __UNKNOWN__ __UNKNOWN__ 11 124481720 124481720 __UNKNOWN__ Intron SNP A A G rs11219736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124481720A>G ENST00000284288.2 + 1 248 NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 NA NA cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085) gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gap junction hemi-channel activity (GO:0055077) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) TGGTGCGCACAGTGACGGGAT 0.537 NA A||| 189 0.0377396 0.0484 0.0058 5008 , , NA 14409 0.1012 NA 0.002 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF406650 CCDS8447.1 11q24.2 2011-12-02 ENSG00000154143 ENSG00000154143 116337 Ion channels / Pannexins 20573 protein-coding gene gene with protein product 608422 NA Standard NM_052959 NA Approved Px3 uc001qah.3 Q96QZ0 OTTHUMG00000165925 ENST00000284288.2:c.181+87A>G chr11.hg19:g.124481720A>G NA hg19 CCDS8447.1 0.02 6.532368 CACxGTG COVERED NOVEL PANX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387064.1 0 4.812714 KEEP 0 0 0 16 473 AA 0.997832 0.997832 0 + 16 60 539 0 0 37.97461 170 60 6246 231 ENST00000284288.2 0.086022 1 TBRG1 84897 __UNKNOWN__ __UNKNOWN__ 11 124493199 124493199 __UNKNOWN__ Intron SNP C C A rs678132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124493199C>A ENST00000441174.3 + 1 354 TBRG1_ENST00000375005.4_Intron NM_032811.2 NP_116200.2 Q3YBR2 TBRG1_HUMAN transforming growth factor beta regulator 1 NA NA cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) kidney(1)|prostate(1) 2 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218) CCAAGCTGTTCCCCCTTCCCA 0.502 NA C||| 831 0.165935 0.1619 0.0663 5008 , , NA 18677 0.3085 NA 0.0746 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074140 CCDS8448.2 11q24.2 2008-02-05 ENSG00000154144 ENSG00000154144 84897 29551 protein-coding gene gene with protein product nuclear interactor of ARF and MDM2 610614 NA 7654366, 17110379 Standard NM_032811 NM_032811 NA Approved FLJ14621, TB-5, NIAM uc001qak.4 Q3YBR2 OTTHUMG00000153024 ENST00000441174.3:c.150+70C>A chr11.hg19:g.124493199C>A NA Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0 hg19 CCDS8448.2 0.02 22.331555 GTTxCCC COVERED NOVEL TBRG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000329057.2 3 59.289743 KEEP 0 0 0 197 6847 CC 1 1 0 + 21 60 669 0 0 39.155237 531 60 19814 950 ENST00000441174.3 0.038043 1 SPA17 53340 __UNKNOWN__ __UNKNOWN__ 11 124566724 124566724 __UNKNOWN__ 3'UTR SNP A A G rs679810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:124566724A>G ENST00000532692.1 + 0 4259 Q15506 SP17_HUMAN sperm autoantigenic protein 17 NA NA binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) tctatattcaactgcctacat 0.393 NA A||| 1659 0.33127 0.2474 0.2997 5008 , , NA 18875 0.4841 NA 0.326 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334735 CCDS8450.1 11q24.2 2009-03-12 ENSG00000064199 ENSG00000064199 53340 11210 protein-coding gene gene with protein product cancer/testis antigen 22 608621 NA 8688458 Standard NM_017425 NM_017425 NA Approved SP17, CT22 uc001qap.3 Q15506 OTTHUMG00000165927 ENST00000532692.1:c.*2382A>G chr11.hg19:g.124566724A>G NA B2R4F2|Q9BXF7 hg19 CCDS8450.1 0.02 6.595129 TCAxCTG COVERED NOVEL SPA17-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387075.1 0 8.124943 KEEP 0 0 0 27 869 AA 0.999988 0.999988 0 + 8 60 300 0 0 20.117236 148 60 5218 210 ENST00000532692.1 0.051282 1 PKNOX2 63876 __UNKNOWN__ __UNKNOWN__ 11 125255715 125255715 __UNKNOWN__ Intron SNP A A G rs3740892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:125255715A>G ENST00000298282.9 + 6 670 PKNOX2_ENST00000542175.1_Intron|PKNOX2_ENST00000530517.1_Intron NM_022062.2 NP_071345.2 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 29 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) ATTTACCAACAAAAGGTTTTG 0.468 NA A||| 2040 0.407348 0.5734 0.4899 5008 , , NA 9747 0.3442 NA 0.2843 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023136 CCDS41730.1 11q24.2 2014-09-04 ENSG00000165495 ENSG00000165495 63876 Homeoboxes / TALE class 16714 protein-coding gene gene with protein product 613066 NA 11549286 Standard NM_022062 NA Approved uc001qbu.3 Q96KN3 OTTHUMG00000165884 ENST00000298282.9:c.399+97A>G chr11.hg19:g.125255715A>G NA B7Z5I5|F5GZ15|Q63HL6|Q86XD1 hg19 CCDS41730.1 0.02 9.243452 AACxAAA COVERED NOVEL PKNOX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386866.3 1 8.722929 KEEP 0 0 0 29 843 AA 0.999997 0.999997 0 + 7 60 270 0 0 17.074844 199 60 7205 276 ENST00000298282.9 0.033981 1 DDX25 29118 __UNKNOWN__ __UNKNOWN__ 11 125788678 125788678 __UNKNOWN__ Silent SNP T T C rs683155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:125788678T>C ENST00000263576.6 + 10 1349 c.1194T>C c.(1192-1194)tgT>tgC p.C398C RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 398 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. NA mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286) chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) CTAATGTTTGTGCCCGAGGTG 0.433 NA C||| 3455 0.689896 0.7103 0.7507 5008 , , NA 22331 0.6627 NA 0.675 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 GRCh37 CM068302 DDX25 M rs683155 C 2745,1097 985,775,161 103 99 100 1194 -2.8 0.9 11 dbSNP_83 100 5587,2665 1901,1785,440 no coding-synonymous DDX25 NM_013264.3 2886,2560,601 CC,CT,TT 32.2952,28.5528,31.1063 398/484 125788678 8332,3762 1921 4126 6047 SO:0001819 synonymous_variant AF155140 CCDS44766.1 11q24 2012-02-23 2012-02-23 ENSG00000109832 ENSG00000109832 29118 DEAD-boxes 18698 protein-coding gene gene with protein product gonadotropin-regulated testicular RNA helicase 607663 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25, DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 NA 10608860, 15096601 Standard NM_013264 NM_013264 NA Approved GRTH uc001qcz.5 Q9UHL0 OTTHUMG00000165859 ENST00000263576.6:c.1194T>C chr11.hg19:g.125788678T>C NA B2R6Z0|Q5XVN2|Q86W81|Q8IYP1 hg19 CCDS44766.1 0.02 11.931534 TTGxGCC COVERED NOVEL DDX25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386736.3 0 12.636856 KEEP 0 0 0 42 1306 TT 1 1 0 + 10 60 346 0 0 20.234894 298 60 10830 439 ENST00000263576.6 0.032468 1 RP11-680F20.9 0 __UNKNOWN__ __UNKNOWN__ 11 125793056 125793056 __UNKNOWN__ RNA SNP T T G rs521203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:125793056T>G ENST00000533033.2 - 0 394 NA NA NA TTTTTGGATTTGGTTGATACA 0.428 NA OREG0021479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1273 0.254193 0.1286 0.3285 5008 , , NA 17893 0.3423 NA 0.2356 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000533033.2: chr11.hg19:g.125793056T>G 1544 hg19 0.02 2.27671 ATTxGGT COVERED NOVEL RP11-680F20.9-002 KNOWN basic antisense NA antisense OTTHUMT00000386786.2 1 5.415972 KEEP 0 0 0 18 554 TT 0.999859 0.999177 0 - 5 60 199 0 0 14.136339 76 60 2809 123 ENST00000533033.2 0.061728 0.999317 RP11-50B3.2 0 __UNKNOWN__ __UNKNOWN__ 11 126045822 126045822 __UNKNOWN__ lincRNA SNP T T C rs560813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126045822T>C ENST00000532357.1 + 0 461 NA NA NA gggtgtctgttcacctttctg 0.507 NA C||| 1681 0.335663 0.2587 0.1873 5008 , , NA 18891 0.4881 NA 0.2217 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000532357.1: chr11.hg19:g.126045822T>C NA hg19 0.02 27.778949 TGTxCAC COVERED 652 0.29853479853479853 132 0.2682926829268293 75 0.20718232044198895 288 0.5034965034965035 157 0.20712401055408972 C 6.421 0.445840 0.12164 . . ENSG00000254833 ENST00000532357 . . . 4.14 -1.14 0.09741 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.45454 -0.9260 4 0.87932 D 0 . 4.1799 0.10370 0.1511:0.2892:0.0:0.5597 rs560813 . . . P 89 . ENSP00000431667:S89P S + 1 0 RP11-50B3.2 125551032 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.059000 0.11731 -0.256000 0.09473 -1.160000 0.01791 TCA NOVEL RP11-50B3.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000386334.1 6 30.386226 KEEP 0 0 0 101 3092 TT 1 1 0 + 22 60 787 0 0 48.10981 602 60 21804 896 ENST00000532357.1 0.035256 1 SRPR 6734 __UNKNOWN__ __UNKNOWN__ 11 126135973 126135973 __UNKNOWN__ Silent SNP C C T rs2962118 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126135973C>T ENST00000532259.1 - 7 1029 c.852G>A c.(850-852)gcG>gcA p.A284A SRPR_ENST00000332118.6_Silent_p.A312A NM_001177842.1 NP_001171313.1 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 312 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTCCCTTGGTCGCACTGCAGG 0.483 NA C||| 374 0.0746805 0.0083 0.0187 5008 , , NA 22308 0.3393 NA 0.001 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 C , 39,4363 42.3+/-75.8 1,37,2163 167 160 162 852,936 4.1 1 11 dbSNP_101 162 10,8588 7.7+/-29.5 0,10,4289 no coding-synonymous,coding-synonymous SRPR NM_001177842.1,NM_003139.3 , 1,47,6452 TT,TC,CC 0.1163,0.886,0.3769 , 284/611,312/639 126135973 49,12951 2201 4299 6500 SO:0001819 synonymous_variant BC001162 CCDS31717.1, CCDS53722.1 11q24-q25 2012-10-02 2008-10-29 ENSG00000182934 ENSG00000182934 6734 11307 protein-coding gene gene with protein product 182180 signal recognition particle receptor ('docking protein') NA 3340536, 1312991 Standard NM_003139 NM_001177842 NA Approved SRP-alpha, Sralpha uc001qdh.3 P08240 OTTHUMG00000165826 ENST00000532259.1:c.852G>A chr11.hg19:g.126135973C>T NA A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4 hg19 CCDS53722.1 0.02 12.645719 GGTxGCA COVERED NOVEL SRPR-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000386426.1 2 37.298012 KEEP 0 0 0 124 4154 CC 1 1 0 - 9 60 332 0 0 19.453965 331 60 11522 562 ENST00000532259.1 0.026471 1 SRPR 6734 __UNKNOWN__ __UNKNOWN__ 11 126136799 126136799 __UNKNOWN__ Missense_Mutation SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126136799G>T ENST00000532259.1 - 4 638 c.461C>A c.(460-462)gCt>gAt p.A154D SRPR_ENST00000332118.6_Missense_Mutation_p.A182D NM_001177842.1 NP_001171313.1 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 182 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) p.A182D(1) endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTTGCTGGTAGCCAAAGGACC 0.478 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) prostate(1) 71 76 74 NA NA 11 NA 126136799 2201 4299 6500 SO:0001583 missense BC001162 CCDS31717.1, CCDS53722.1 11q24-q25 2012-10-02 2008-10-29 ENSG00000182934 ENSG00000182934 6734 11307 protein-coding gene gene with protein product 182180 signal recognition particle receptor ('docking protein') NA 3340536, 1312991 Standard NM_003139 NM_001177842 NA Approved SRP-alpha, Sralpha uc001qdh.3 P08240 OTTHUMG00000165826 ENST00000532259.1:c.461C>A chr11.hg19:g.126136799G>T ENSP00000435508:p.Ala154Asp NA A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4 hg19 CCDS53722.1 0.02 3.403662 GTAxCCA COVERED . . . . . . . . . . G 11.66 1.704856 0.30232 . . ENSG00000182934 ENST00000332118;ENST00000532259 . . . 6.07 4.22 0.49857 Signal recognition particle receptor, alpha subunit, N-terminal (1); 0.603639 0.19178 N 0.120775 T 0.41166 0.1147 L 0.54323 1.7 0.25222 N 0.989898 B;B 0.18013 0.025;0.001 B;B 0.22152 0.038;0.004 T 0.31024 -0.9958 9 0.09590 T 0.72 -1.1549 12.7511 0.57308 0.1337:0.0:0.8663:0.0 . 154;182 E9PJS4;P08240 .;SRPR_HUMAN D 182;154 . ENSP00000328023:A182D A - 2 0 SRPR 125642009 0.000000 0.05858 0.994000 0.49952 0.998000 0.95712 0.538000 0.23160 0.906000 0.36621 0.655000 0.94253 GCT NOVEL SRPR-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000386426.1 1 11.393507 KEEP 0 3 48 56 1753 GG 1 0.999999 0 - 12 60 245 0 0 13.668755 112 60 3154 221 ENST00000532259.1 0.096774 0.999999 RP11-712L6.5 0 __UNKNOWN__ __UNKNOWN__ 11 126174164 126174164 __UNKNOWN__ 5'UTR SNP C C T rs695029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126174164C>T ENST00000524964.1 - 0 49 DCPS_ENST00000263579.4_Silent_p.F63F NA NA NA AAATCATTTTCCTACACGGGA 0.547 NA C||| 1531 0.305711 0.0749 0.3905 5008 , , NA 17744 0.624 NA 0.2008 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 C 466,3936 218.1+/-236.3 26,414,1761 72 71 71 189 3.8 0.9 11 dbSNP_83 71 1723,6873 311.4+/-310.3 160,1403,2735 no coding-synonymous DCPS NM_014026.3 186,1817,4496 TT,TC,CC 20.0442,10.5861,16.8411 63/338 126174164 2189,10809 2201 4298 6499 SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000524964.1:c.-4G>A chr11.hg19:g.126174164C>T NA hg19 0.02 19.192812 TTTxCTA COVERED NOVEL RP11-712L6.5-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000386453.1 2 41.11759 KEEP 0 4 126 181 6260 CC 1 1 0 - 18 60 636 0 0 39.306679 437 60 16184 806 ENST00000524964.1 0.03956 1 ST3GAL4 6484 __UNKNOWN__ __UNKNOWN__ 11 126278075 126278075 __UNKNOWN__ Silent SNP C C T rs2230279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126278075C>T ENST00000526727.1 + 6 797 c.423C>T c.(421-423)taC>taT p.Y141Y ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000530591.1_Silent_p.Y137Y|ST3GAL4_ENST00000449406.2_Silent_p.Y130Y|ST3GAL4_ENST00000532243.1_Silent_p.Y140Y|ST3GAL4_ENST00000356132.4_Silent_p.Y147Y|ST3GAL4_ENST00000392669.2_Silent_p.Y141Y|ST3GAL4_ENST00000227495.6_Silent_p.Y137Y|ST3GAL4_ENST00000534083.1_Silent_p.Y141Y|ST3GAL4_ENST00000534457.1_Silent_p.Y136Y|ST3GAL4_ENST00000444328.2_Silent_p.Y141Y Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 141 NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288) endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) TCAACAAGTACGATGTGGTCA 0.582 NA C||| 1727 0.344848 0.3623 0.3256 5008 , , NA 19286 0.5079 NA 0.3101 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C 1546,2856 485.5+/-360.3 270,1006,925 166 169 168 411 2.3 1 11 dbSNP_98 168 2582,6014 419.5+/-353.1 365,1852,2081 no coding-synonymous ST3GAL4 NM_006278.1 635,2858,3006 TT,TC,CC 30.0372,35.1204,31.7587 137/330 126278075 4128,8870 2201 4298 6499 SO:0001819 synonymous_variant X74570 CCDS8474.1, CCDS58193.1, CCDS58194.1 11q23-q24 2013-03-01 2003-01-14 2005-02-07 ENSG00000110080 ENSG00000110080 6484 2.4.99.4 Sialyltransferases 10864 protein-coding gene gene with protein product ST3Gal IV 104240 sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) CGS23, SIAT4, NANTA3, SIAT4C NA 8557707, 8288606 Standard NM_006278 NM_006278 NA Approved STZ, SAT3, FLJ11867 uc001qds.3 Q11206 OTTHUMG00000165830 ENST00000526727.1:c.423C>T chr11.hg19:g.126278075C>T NA A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9 hg19 CCDS58193.1 0.02 24.456377 GTAxGAT COVERED NOVEL ST3GAL4-003 PUTATIVE alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386470.1 3 50.690009 KEEP 0 1 27 178 6001 CC 1 1 0 + 32 60 1126 0 0 73.955716 562 60 19920 941 ENST00000526727.1 0.053872 1 ST3GAL4 6484 __UNKNOWN__ __UNKNOWN__ 11 126279365 126279365 __UNKNOWN__ Intron SNP A A T rs1316361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126279365A>T ENST00000526727.1 + 8 1145 ST3GAL4_ENST00000530591.1_Intron|ST3GAL4_ENST00000449406.2_Intron|ST3GAL4_ENST00000532243.1_Intron|ST3GAL4_ENST00000356132.4_Intron|ST3GAL4_ENST00000392669.2_Intron|ST3GAL4_ENST00000227495.6_Intron|ST3GAL4_ENST00000534083.1_Intron|ST3GAL4_ENST00000534457.1_Intron|ST3GAL4_ENST00000444328.2_Intron Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288) endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) AGGAGGGATGATCCTATGGGC 0.542 NA T||| 1677 0.334864 0.3169 0.33 5008 , , NA 19231 0.5099 NA 0.3211 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X74570 CCDS8474.1, CCDS58193.1, CCDS58194.1 11q23-q24 2013-03-01 2003-01-14 2005-02-07 ENSG00000110080 ENSG00000110080 6484 2.4.99.4 Sialyltransferases 10864 protein-coding gene gene with protein product ST3Gal IV 104240 sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) CGS23, SIAT4, NANTA3, SIAT4C NA 8557707, 8288606 Standard NM_006278 NM_006278 NA Approved STZ, SAT3, FLJ11867 uc001qds.3 Q11206 OTTHUMG00000165830 ENST00000526727.1:c.771+59A>T chr11.hg19:g.126279365A>T NA A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9 hg19 CCDS58193.1 0.02 4.337023 ATGxTCC COVERED NOVEL ST3GAL4-003 PUTATIVE alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386470.1 0 7.508907 KEEP 0 0 0 25 725 AA 0.999931 0.99992 0 + 6 60 222 0 0 15.026789 101 60 3664 137 ENST00000526727.1 0.056075 0.999989 ST3GAL4 6484 __UNKNOWN__ __UNKNOWN__ 11 126283785 126283785 __UNKNOWN__ Intron SNP C C T rs2236653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:126283785C>T ENST00000526727.1 + 10 1289 ST3GAL4_ENST00000530591.1_Intron|ST3GAL4_ENST00000449406.2_Intron|ST3GAL4_ENST00000532243.1_Intron|ST3GAL4_ENST00000356132.4_Intron|ST3GAL4_ENST00000392669.2_Intron|ST3GAL4_ENST00000227495.6_Intron|ST3GAL4_ENST00000534083.1_Intron|ST3GAL4_ENST00000534457.1_Intron|ST3GAL4_ENST00000444328.2_Intron Q11206 SIA4C_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 4 NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288) endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767) TTGGGAGGGGCAGGGAGACTT 0.592 NA C||| 2499 0.499002 0.5477 0.4207 5008 , , NA 18147 0.6627 NA 0.4443 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X74570 CCDS8474.1, CCDS58193.1, CCDS58194.1 11q23-q24 2013-03-01 2003-01-14 2005-02-07 ENSG00000110080 ENSG00000110080 6484 2.4.99.4 Sialyltransferases 10864 protein-coding gene gene with protein product ST3Gal IV 104240 sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase) CGS23, SIAT4, NANTA3, SIAT4C NA 8557707, 8288606 Standard NM_006278 NM_006278 NA Approved STZ, SAT3, FLJ11867 uc001qds.3 Q11206 OTTHUMG00000165830 ENST00000526727.1:c.916-71C>T chr11.hg19:g.126283785C>T NA A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9 hg19 CCDS58193.1 0.02 3.692876 GGGxAGG COVERED NOVEL ST3GAL4-003 PUTATIVE alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386470.1 2 12.304773 KEEP 0 0 0 41 1409 CC 1 1 0 + 5 60 170 0 0 10.106588 130 60 4752 195 ENST00000526727.1 0.037037 1 FLI1 2313 __UNKNOWN__ __UNKNOWN__ 11 128651893 128651893 __UNKNOWN__ Silent SNP A A G rs35195224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:128651893A>G ENST00000525560.1 + 3 420 c.51A>G c.(49-51)caA>caG p.Q17Q FLI1_ENST00000281428.8_Silent_p.Q144Q|FLI1_ENST00000527786.2_Silent_p.Q210Q|FLI1_ENST00000534087.2_Silent_p.Q177Q|FLI1_ENST00000344954.6_Silent_p.Q177Q NM_001271012.1 NP_001257941.1 Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 210 NA blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) ACACCGACCAATCCTCACGAT 0.413 NA T EWSR1 Ewing sarcoma A||| 1072 0.214058 0.4576 0.1585 5008 , , NA 20960 0.1766 NA 0.0805 False NA ,,, NA NA NA 2504 0.1002 NA NA NA Dom yes 11 11q24 2313 Friend leukemia virus integration 1 M 0 A , 1452,2366 280,892,737 172 163 165 531,630 -3.7 0.9 11 dbSNP_126 165 731,7529 30,671,3429 no coding-synonymous,coding-synonymous FLI1 NM_001167681.2,NM_002017.3 , 310,1563,4166 GG,GA,AA 8.8499,38.0304,18.0742 , 177/420,210/453 128651893 2183,9895 1909 4130 6039 SO:0001819 synonymous_variant M98833 CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1 11q24.1-q24.3 2014-09-17 2013-08-07 ENSG00000151702 ENSG00000151702 2313 3749 protein-coding gene gene with protein product 193067 Friend leukemia virus integration 1 NA 1765382 Standard NM_002017 NM_001167681 NA Approved SIC-1, EWSR2 uc010sbu.2 Q01543 OTTHUMG00000165792 ENST00000525560.1:c.51A>G chr11.hg19:g.128651893A>G NA B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07 hg19 CCDS59230.1 0.02 19.12338 CCAxTCC COVERED NOVEL FLI1-203 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding 3 20.460089 KEEP 0 0 0 68 2128 AA 1 1 0 + 12 60 446 0 0 25.777128 486 60 17794 703 ENST00000525560.1 0.024096 1 ARHGAP32 9743 __UNKNOWN__ __UNKNOWN__ 11 128842873 128842873 __UNKNOWN__ Silent SNP T T C rs581258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:128842873T>C ENST00000392657.3 - 12 2817 c.2439A>G c.(2437-2439)gaA>gaG p.E813E ARHGAP32_ENST00000310343.9_Silent_p.E1162E|ARHGAP32_ENST00000527272.1_Silent_p.E813E|ARHGAP32_ENST00000524655.1_3'UTR NM_014715.3 NP_055530.2 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1162 NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211) GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 TTCTGGCCTTTTCTGGGTCCC 0.448 NA T||| 999 0.199481 0.2625 0.2219 5008 , , NA 20466 0.1746 NA 0.1332 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 T , 1165,3237 411.5+/-335.8 156,853,1192 165 158 160 3486,2439 -2.8 0.9 11 dbSNP_83 160 1266,7328 253.3+/-279.0 110,1046,3141 no coding-synonymous,coding-synonymous ARHGAP32 NM_001142685.1,NM_014715.3 , 266,1899,4333 CC,CT,TT 14.7312,26.4652,18.7058 , 1162/2088,813/1739 128842873 2431,10565 2201 4297 6498 SO:0001819 synonymous_variant AB018255 CCDS31718.1, CCDS44769.1 11q24.3 2011-06-29 ENSG00000134909 ENSG00000134909 9743 Rho GTPase activating proteins 17399 protein-coding gene gene with protein product 608541 NA 12446789, 12819203, 17663722 Standard NM_014715 NM_014715 NA Approved GRIT, KIAA0712, MGC1892, RICS, GC-GAP uc009zcp.3 A7KAX9 OTTHUMG00000165774 ENST00000392657.3:c.2439A>G chr11.hg19:g.128842873T>C NA I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3 hg19 CCDS31718.1 0.02 35.942969 CTTxTCT COVERED NOVEL ARHGAP32-006 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000386249.1 4 19.559459 KEEP 0 0 0 65 2062 TT 1 1 0 - 25 60 926 0 0 56.195208 780 60 27969 1009 ENST00000392657.3 0.031056 1 BARX2 8538 __UNKNOWN__ __UNKNOWN__ 11 129312480 129312480 __UNKNOWN__ Intron SNP G G A rs3827486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129312480G>A ENST00000281437.4 + 3 584 BARX2_ENST00000526127.1_Intron|BARX2_ENST00000531946.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 NA NA cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CTTGCAGACCGTGAATGTTTC 0.537 NA A||| 2813 0.561701 0.4864 0.5144 5008 , , NA 19687 0.8423 NA 0.3648 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF031924 CCDS8481.1 11q24.3 2011-06-20 2007-07-09 ENSG00000043039 ENSG00000043039 8538 Homeoboxes / ANTP class : NKL subclass 956 protein-coding gene gene with protein product 604823 BarH-like homeobox 2 NA 10644443 Standard NM_003658 NM_003658 NA Approved uc001qfc.4 Q9UMQ3 OTTHUMG00000165776 ENST00000281437.4:c.489-250G>A chr11.hg19:g.129312480G>A NA O43518|Q6NT51 hg19 CCDS8481.1 0.02 6.357007 ACCxTGA COVERED NOVEL BARX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386153.1 1 3.912293 KEEP 0 0 0 13 436 GG 0.994391 0.994391 0 + 11 70 391 0 0 26.605931 161 60 5667 212 ENST00000281437.4 0.063953 1 NFRKB 4798 __UNKNOWN__ __UNKNOWN__ 11 129746707 129746707 __UNKNOWN__ Silent SNP G G T rs2229650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129746707G>T ENST00000446488.3 - 16 1759 c.1656C>A c.(1654-1656)ggC>ggA p.G552G NFRKB_ENST00000524794.1_Silent_p.G577G|NFRKB_ENST00000524746.1_Silent_p.G552G|NFRKB_ENST00000304521.5_Silent_p.G552G NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 552 NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) Ino80 complex (GO:0031011)|nucleus (GO:0005634) DNA binding (GO:0003677)|protease binding (GO:0002020) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TGTCAAACACGCCCTTCACTG 0.587 NA G||| 1371 0.273762 0.2156 0.2349 5008 , , NA 17938 0.3869 NA 0.2018 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 G , 859,3543 335.7+/-304.0 81,697,1423 107 85 92 1656,1731 -11.9 0.3 11 dbSNP_98 92 1417,7177 272.2+/-289.9 107,1203,2987 no coding-synonymous,coding-synonymous NFRKB NM_001143835.1,NM_006165.3 , 188,1900,4410 TT,TG,GG 16.4882,19.5139,17.5131 , 552/1300,577/1325 129746707 2276,10720 2201 4297 6498 SO:0001819 synonymous_variant CCDS8483.1, CCDS44770.1 11q24-q25 2011-07-06 ENSG00000170322 ENSG00000170322 4798 INO80 complex subunits 7802 protein-coding gene gene with protein product nuclear factor related to kappa B binding protein, DNA-binding protein R kappa B, INO80 complex subunit G 164013 NA 1427843 Standard NM_006165 NM_006165 NA Approved DKFZp547B2013, INO80G uc001qfg.3 Q6P4R8 OTTHUMG00000165761 ENST00000446488.3:c.1656C>A chr11.hg19:g.129746707G>T NA Q12869|Q15312|Q9H048 hg19 CCDS44770.1 0.02 15.171254 CACxCCC COVERED NOVEL NFRKB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386063.2 2 29.194087 KEEP 0 0 0 97 3412 GG 1 1 0 - 11 60 413 0 0 25.059675 359 60 12528 600 ENST00000446488.3 0.02973 1 PRDM10 56980 __UNKNOWN__ __UNKNOWN__ 11 129775599 129775599 __UNKNOWN__ Silent SNP C C T rs3734076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129775599C>T ENST00000360871.3 - 20 3432 c.3201G>A c.(3199-3201)caG>caA p.Q1067Q PRDM10_ENST00000423662.2_Silent_p.Q972Q|PRDM10_ENST00000526082.1_Silent_p.Q985Q|PRDM10_ENST00000358825.5_Silent_p.Q1071Q|PRDM10_ENST00000304538.6_Silent_p.Q934Q|PRDM10_ENST00000528746.1_Silent_p.Q1028Q NM_199437.1 NP_955469.1 Q9NQV6 PRD10_HUMAN PR domain containing 10 1058 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TAATCACAAACTGACCCGGAG 0.443 NA C||| 656 0.13099 0.0484 0.147 5008 , , NA 20285 0.4137 NA 0.0268 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 C ,,, 238,4164 139.2+/-174.8 7,224,1970 137 117 124 3213,3201,2916,2802 5.1 1 11 dbSNP_107 124 247,8347 98.4+/-159.9 3,241,4053 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PRDM10 NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1 ,,, 10,465,6023 TT,TC,CC 2.8741,5.4066,3.7319 ,,, 1071/1161,1067/1157,972/1062,934/1024 129775599 485,12511 2201 4297 6498 SO:0001819 synonymous_variant AF275817 CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1 11q24.3 2013-01-08 ENSG00000170325 ENSG00000170325 56980 Zinc fingers, C2H2-type 13995 protein-coding gene gene with protein product PRDM zinc finger transcription factor, PR-domain family member 7, tristanin NA 12175877 Standard NM_199437 NM_020228 NA Approved KIAA1231, PFM7, MGC131802 uc001qfm.3 Q9NQV6 OTTHUMG00000165762 ENST00000360871.3:c.3201G>A chr11.hg19:g.129775599C>T NA B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9 hg19 CCDS8484.1 0.02 8.7279 AAAxTGA COVERED NOVEL PRDM10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386076.1 2 17.758059 KEEP 0 0 0 59 2145 CC 1 1 0 - 17 60 620 0 0 43.393665 225 60 8618 372 ENST00000360871.3 0.070248 1 PRDM10 56980 __UNKNOWN__ __UNKNOWN__ 11 129785615 129785615 __UNKNOWN__ Silent SNP C C T rs3734071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129785615C>T ENST00000360871.3 - 16 2697 c.2466G>A c.(2464-2466)acG>acA p.T822T PRDM10_ENST00000423662.2_Silent_p.T740T|PRDM10_ENST00000526082.1_Silent_p.T740T|PRDM10_ENST00000358825.5_Silent_p.T826T|PRDM10_ENST00000304538.6_Silent_p.T736T|PRDM10_ENST00000528746.1_Silent_p.T796T NM_199437.1 NP_955469.1 Q9NQV6 PRD10_HUMAN PR domain containing 10 826 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CGATGGTGCCCGTCAGCTGGG 0.617 NA C||| 1173 0.234225 0.4236 0.1931 5008 , , NA 15763 0.4077 NA 0.0258 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 C ,,, 1644,2758 503.9+/-365.7 309,1026,866 124 117 120 2478,2466,2220,2208 -12.3 0.1 11 dbSNP_107 120 203,8391 87.1+/-149.5 2,199,4096 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PRDM10 NM_020228.2,NM_199437.1,NM_199438.1,NM_199439.1 ,,, 311,1225,4962 TT,TC,CC 2.3621,37.3467,14.2121 ,,, 826/1161,822/1157,740/1062,736/1024 129785615 1847,11149 2201 4297 6498 SO:0001819 synonymous_variant AF275817 CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1 11q24.3 2013-01-08 ENSG00000170325 ENSG00000170325 56980 Zinc fingers, C2H2-type 13995 protein-coding gene gene with protein product PRDM zinc finger transcription factor, PR-domain family member 7, tristanin NA 12175877 Standard NM_199437 NM_020228 NA Approved KIAA1231, PFM7, MGC131802 uc001qfm.3 Q9NQV6 OTTHUMG00000165762 ENST00000360871.3:c.2466G>A chr11.hg19:g.129785615C>T NA B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9 hg19 CCDS8484.1 0.02 4.576429 GCCxGTC COVERED NOVEL PRDM10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386076.1 0 9.329255 KEEP 0 0 0 31 1040 CC 0.999997 0.999997 0 - 11 60 429 0 0 31.138384 137 60 5002 216 ENST00000360871.3 0.074324 1 PRDM10 56980 __UNKNOWN__ __UNKNOWN__ 11 129825362 129825362 __UNKNOWN__ Intron SNP G G A rs57822971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129825362G>A ENST00000360871.3 - 4 526 PRDM10_ENST00000358825.5_Intron|PRDM10_ENST00000528746.1_Intron NM_199437.1 NP_955469.1 Q9NQV6 PRD10_HUMAN PR domain containing 10 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGGCGCAGTGGCATTCACAGT 0.468 NA G||| 698 0.139377 0.0968 0.0749 5008 , , NA 15993 0.3988 NA 0.0338 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 G , 472,3930 221.7+/-238.7 36,400,1765 133 95 108 , -4.5 0 11 dbSNP_129 108 293,8301 107.4+/-168.2 8,277,4012 no intron,intron PRDM10 NM_020228.2,NM_199437.1 , 44,677,5777 AA,AG,GG 3.4094,10.7224,5.8864 , , 129825362 765,12231 2201 4297 6498 SO:0001627 intron_variant AF275817 CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1 11q24.3 2013-01-08 ENSG00000170325 ENSG00000170325 56980 Zinc fingers, C2H2-type 13995 protein-coding gene gene with protein product PRDM zinc finger transcription factor, PR-domain family member 7, tristanin NA 12175877 Standard NM_199437 NM_020228 NA Approved KIAA1231, PFM7, MGC131802 uc001qfm.3 Q9NQV6 OTTHUMG00000165762 ENST00000360871.3:c.294+44C>T chr11.hg19:g.129825362G>A NA B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9 hg19 CCDS8484.1 0.02 6.28048 GTGxCAT COVERED NOVEL PRDM10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386076.1 0 6.920599 KEEP 0 0 0 23 796 GG 0.999892 0.999892 0 - 12 60 417 0 0 29.003732 146 60 5231 196 ENST00000360871.3 0.075949 1 PRDM10 56980 __UNKNOWN__ __UNKNOWN__ 11 129830796 129830796 __UNKNOWN__ Missense_Mutation SNP C C T rs11221912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129830796C>T ENST00000360871.3 - 2 295 c.64G>A c.(64-66)Gca>Aca p.A22T PRDM10_ENST00000358825.5_Missense_Mutation_p.A22T|PRDM10_ENST00000528746.1_Missense_Mutation_p.A22T NM_199437.1 NP_955469.1 Q9NQV6 PRD10_HUMAN PR domain containing 10 22 NA A -> T (in dbSNP:rs11221912). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) p.A22T(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TTCACCTGTGCGGCATTCTGT 0.493 NA C||| 1397 0.278954 0.3949 0.1758 5008 , , NA 18326 0.5417 NA 0.0557 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C THR/ALA,THR/ALA 1553,2849 487.6+/-361.0 272,1009,920 139 124 129 64,64 -0.9 0 11 dbSNP_120 129 475,8119 139.5+/-196.2 13,449,3835 yes missense,missense PRDM10 NM_020228.2,NM_199437.1 58,58 285,1458,4755 TT,TC,CC 5.5271,35.2794,15.6048 benign,benign 22/1161,22/1157 129830796 2028,10968 2201 4297 6498 SO:0001583 missense AF275817 CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1 11q24.3 2013-01-08 ENSG00000170325 ENSG00000170325 56980 Zinc fingers, C2H2-type 13995 protein-coding gene gene with protein product PRDM zinc finger transcription factor, PR-domain family member 7, tristanin NA 12175877 Standard NM_199437 NM_020228 NA Approved KIAA1231, PFM7, MGC131802 uc001qfm.3 Q9NQV6 OTTHUMG00000165762 ENST00000360871.3:c.64G>A chr11.hg19:g.129830796C>T ENSP00000354118:p.Ala22Thr NA B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9 hg19 CCDS8484.1 0.02 15.040062 GTGxGGC COVERED 594 0.27197802197802196 196 0.3983739837398374 54 0.14917127071823205 308 0.5384615384615384 36 0.047493403693931395 C 11.92 1.781863 0.31502 0.352794 0.055271 ENSG00000170325 ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431 T;T;T;T;T 0.52295 2.76;2.75;2.76;0.67;0.68 5.39 -0.936 0.10419 . 0.349382 0.28871 N 0.013866 T 0.00012 0.0000 L 0.27053 0.805 0.22342 P 0.999180817 B;B;B 0.14438 0.01;0.006;0.001 B;B;B 0.12156 0.007;0.002;0.0 T 0.48175 -0.9058 9 0.51188 T 0.08 -3.0822 10.3723 0.44062 0.0:0.611:0.0:0.389 rs11221912;rs58525085;rs11221912 22;22;22 Q9NQV6-4;G3XAE5;Q9NQV6 .;.;PRD10_HUMAN T 22 ENSP00000351686:A22T;ENSP00000354118:A22T;ENSP00000431262:A22T;ENSP00000432093:A22T;ENSP00000436681:A22T ENSP00000351686:A22T A - 1 0 PRDM10 129336006 0.041000 0.20044 0.002000 0.10522 0.116000 0.19942 0.163000 0.16520 -0.364000 0.08088 -0.143000 0.13931 GCA NOVEL PRDM10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386076.1 0 16.252685 KEEP 0 0 0 54 1898 CC 1 1 0 - 12 60 396 0 0 22.986517 338 60 12055 478 ENST00000360871.3 0.034286 1 APLP2 334 __UNKNOWN__ __UNKNOWN__ 11 129939826 129939826 __UNKNOWN__ 5'UTR SNP C C T rs80070284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129939826C>T ENST00000263574.5 + 0 26 APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000338167.5_5'UTR|AP003041.2_ENST00000597197.1_Intron|APLP2_ENST00000539648.1_5'UTR|APLP2_ENST00000528499.1_5'UTR|APLP2_ENST00000345598.5_5'UTR NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 NA NA cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) GCGAGGAGTCCGAGTGTGTGA 0.662 NA C||| 787 0.157149 0.2708 0.1153 5008 , , NA 6385 0.1796 NA 0.1034 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 2 2 2 NA NA 11 NA 129939826 1471 3066 4537 SO:0001623 5_prime_UTR_variant L19597 CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1 11q24 2008-02-05 ENSG00000084234 ENSG00000084234 334 598 protein-coding gene gene with protein product 104776 APPL2 NA 10702673 Standard NM_001642 NM_001642 NA Approved APPH uc021qsg.1 Q06481 OTTHUMG00000165767 ENST00000263574.5:c.-47C>T chr11.hg19:g.129939826C>T NA B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36 hg19 CCDS8486.1 0.02 1.710714 GTCxGAG COVERED NOVEL APLP2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386109.1 1 27.086348 KEEP 0 0 0 90 3059 CC 1 0.999962 0 + 7 60 256 0 0 17.927282 93 60 3252 257 ENST00000263574.5 0.07 0.999962 APLP2 334 __UNKNOWN__ __UNKNOWN__ 11 129980685 129980685 __UNKNOWN__ Intron SNP G G A rs59834300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:129980685G>A ENST00000263574.5 + 3 475 APLP2_ENST00000338167.5_Intron|APLP2_ENST00000278756.7_Intron|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000543137.1_Intron|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000345598.5_Intron NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 NA NA cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TATTGGGGAGGATTTCTCTTA 0.453 NA A||| 1189 0.23742 0.4259 0.0908 5008 , , NA 19266 0.4395 NA 0.0606 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L19597 CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1 11q24 2008-02-05 ENSG00000084234 ENSG00000084234 334 598 protein-coding gene gene with protein product 104776 APPL2 NA 10702673 Standard NM_001642 NM_001642 NA Approved APPH uc021qsg.1 Q06481 OTTHUMG00000165767 ENST00000263574.5:c.403+129G>A chr11.hg19:g.129980685G>A NA B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36 hg19 CCDS8486.1 0.02 4.381233 GAGxATT COVERED NOVEL APLP2-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000386109.1 0 3.911468 KEEP 0 0 0 13 416 GG 0.994391 0.994364 0 + 7 60 256 0 0 17.866113 95 60 3473 115 ENST00000263574.5 0.068627 0.999973 ST14 6768 __UNKNOWN__ __UNKNOWN__ 11 130080017 130080017 __UNKNOWN__ 3'UTR SNP C C T rs704624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130080017C>T ENST00000278742.5 + 0 3285 NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) NA NA keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508) basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CGCGTTTGTGCATATCTGCCT 0.642 NA C||| 2816 0.5623 0.4334 0.5288 5008 , , NA 15425 0.502 NA 0.6233 False NA ,,, NA NA NA 2504 0.7597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF118224 CCDS8487.1 11q24-q25 2011-08-31 2005-11-19 ENSG00000149418 ENSG00000149418 6768 Serine peptidases / Transmembrane 11344 protein-coding gene gene with protein product epithin, matriptase 606797 PRSS14 NA 9925927, 10373424 Standard NM_021978 NA Approved SNC19, HAI, MT-SP1, TMPRSS14 uc001qfw.3 Q9Y5Y6 OTTHUMG00000165768 ENST00000278742.5:c.*299C>T chr11.hg19:g.130080017C>T NA Q9BS01|Q9H3S0|Q9HB36|Q9HCA3 hg19 CCDS8487.1 0.02 3.974098 GTGxATA COVERED NOVEL ST14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000386119.1 1 2.275352 KEEP 0 2 55 27 958 CC 0.999997 0.999997 0 + 5 60 182 0 0 11.302257 130 60 4932 203 ENST00000278742.5 0.037037 1 ZBTB44 29068 __UNKNOWN__ __UNKNOWN__ 11 130099285 130099285 __UNKNOWN__ 3'UTR SNP C C G rs665654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130099285C>G ENST00000525842.1 - 0 6602 ZBTB44_ENST00000397753.1_Intron NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TAAAATGAAACATCCAGAGAG 0.378 NA C||| 2775 0.554113 0.1309 0.7421 5008 , , NA 17348 0.6171 NA 0.7475 False NA ,,, NA NA NA 2504 0.729 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024659 CCDS44776.1, CCDS73414.1, CCDS73415.1 11q24.3 2013-01-08 2006-09-19 2006-09-19 ENSG00000196323 29068 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 25001 protein-coding gene gene with protein product BTB (POZ) domain containing 15 BTBD15 NA 11042152 Standard NM_014155 NM_014155 NA Approved HSPC063, ZNF851 uc001qgb.4 Q8NCP5 ENST00000525842.1:c.*4873G>C chr11.hg19:g.130099285C>G NA Q6IPT8|Q86VJ7|Q86XX5 hg19 CCDS44776.1 0.02 16.455035 AAAxATC COVERED NOVEL ZBTB44-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000386125.1 1 7.661681 KEEP 0 1 39 39 1388 CC 1 1 0 - 22 60 799 0 0 54.487325 337 60 12884 455 ENST00000525842.1 0.061281 1 ZBTB44 29068 __UNKNOWN__ __UNKNOWN__ 11 130099496 130099496 __UNKNOWN__ 3'UTR SNP A A G rs664715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130099496A>G ENST00000525842.1 - 0 6391 ZBTB44_ENST00000397753.1_Intron NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) AAATGTTCATAGTTTGAGTTT 0.328 NA G||| 3827 0.764177 0.7012 0.8617 5008 , , NA 17178 0.6518 NA 0.8469 False NA ,,, NA NA NA 2504 0.8108 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024659 CCDS44776.1, CCDS73414.1, CCDS73415.1 11q24.3 2013-01-08 2006-09-19 2006-09-19 ENSG00000196323 29068 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 25001 protein-coding gene gene with protein product BTB (POZ) domain containing 15 BTBD15 NA 11042152 Standard NM_014155 NM_014155 NA Approved HSPC063, ZNF851 uc001qgb.4 Q8NCP5 ENST00000525842.1:c.*4662T>C chr11.hg19:g.130099496A>G NA Q6IPT8|Q86VJ7|Q86XX5 hg19 CCDS44776.1 0.02 11.376701 CATxGTT COVERED NOVEL ZBTB44-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000386125.1 1 10.220191 KEEP 0 0 0 34 1012 AA 0.999998 0.999998 0 - 19 60 700 0 0 48.566006 273 60 9902 373 ENST00000525842.1 0.065068 1 ZBTB44 29068 __UNKNOWN__ __UNKNOWN__ 11 130102075 130102075 __UNKNOWN__ Intron SNP A A C rs659493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130102075A>C ENST00000357899.4 - 8 2034 ZBTB44_ENST00000397753.1_Intron|ZBTB44_ENST00000530205.1_Intron|ZBTB44_ENST00000525842.1_3'UTR Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) AATCTAAAAAAATGAAACAAA 0.269 NA A||| 2734 0.545927 0.1309 0.7406 5008 , , NA 17204 0.5833 NA 0.7366 False NA ,,, NA NA NA 2504 0.7342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024659 CCDS44776.1, CCDS73414.1, CCDS73415.1 11q24.3 2013-01-08 2006-09-19 2006-09-19 ENSG00000196323 29068 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 25001 protein-coding gene gene with protein product BTB (POZ) domain containing 15 BTBD15 NA 11042152 Standard NM_014155 NM_014155 NA Approved HSPC063, ZNF851 uc001qgb.4 Q8NCP5 ENST00000357899.4:c.1711-465T>G chr11.hg19:g.130102075A>C NA Q6IPT8|Q86VJ7|Q86XX5 hg19 0.02 7.041392 AAAxATG COVERED NOVEL ZBTB44-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000386126.1 2 7.05674 KEEP 0 1 36 36 1142 AA 1 1 0 - 9 60 345 2 0 23.702612 153 60 5484 241 ENST00000357899.4 0.055556 1 ZBTB44 29068 __UNKNOWN__ __UNKNOWN__ 11 130103037 130103037 __UNKNOWN__ Intron SNP A A G rs113298483 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130103037A>G ENST00000357899.4 - 7 2034 ZBTB44_ENST00000397753.1_Intron|ZBTB44_ENST00000530205.1_Intron|ZBTB44_ENST00000525842.1_3'UTR Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) TTTTTACTTTATATGGCAGCA 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024659 CCDS44776.1, CCDS73414.1, CCDS73415.1 11q24.3 2013-01-08 2006-09-19 2006-09-19 ENSG00000196323 29068 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 25001 protein-coding gene gene with protein product BTB (POZ) domain containing 15 BTBD15 NA 11042152 Standard NM_014155 NM_014155 NA Approved HSPC063, ZNF851 uc001qgb.4 Q8NCP5 ENST00000357899.4:c.1710+165T>C chr11.hg19:g.130103037A>G NA Q6IPT8|Q86VJ7|Q86XX5 hg19 0.02 11.885254 TTTxTAT COVERED NOVEL ZBTB44-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000386126.1 1 4.112484 KEEP 3 3 107 51 1519 AA 1 1 0 - 22 33 816 0 0 59.495471 235 60 8225 330 ENST00000357899.4 0.085603 1 ADAMTS8 11095 __UNKNOWN__ __UNKNOWN__ 11 130275372 130275372 __UNKNOWN__ 3'UTR SNP C C T rs77872571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130275372C>T ENST00000257359.6 - 0 3457 NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 NA NA negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435) proteinaceous extracellular matrix (GO:0005578) heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCCAAGGGACCCAGTCACCAC 0.617 NA C||| 538 0.107428 0.1536 0.1196 5008 , , NA 17449 0.0744 NA 0.0586 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF060153 CCDS41732.1 11q25 2008-07-18 2005-08-19 ENSG00000134917 ENSG00000134917 11095 ADAM metallopeptidases with thrombospondin type 1 motif 224 protein-coding gene gene with protein product 605175 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 NA 10438512 Standard NM_007037 NM_007037 NA Approved METH2, FLJ41712, ADAM-TS8 uc001qgg.4 Q9UP79 OTTHUMG00000165656 ENST00000257359.6:c.*81G>A chr11.hg19:g.130275372C>T NA Q9NZS0 hg19 CCDS41732.1 0.02 8.605057 GACxCAG COVERED NOVEL ADAMTS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385636.1 2 6.908375 KEEP 0 0 0 23 770 CC 0.999892 0.999892 0 - 9 60 329 0 0 20.865578 212 60 7686 287 ENST00000257359.6 0.040724 1 RP11-890B15.2 0 __UNKNOWN__ __UNKNOWN__ 11 130716157 130716157 __UNKNOWN__ lincRNA SNP C C T rs7943757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:130716157C>T ENST00000533812.2 - 0 1292 NA NA NA GATTCTATTGCATAATCTCCA 0.388 NA T||| 2707 0.540535 0.6884 0.5548 5008 , , NA 18548 0.4633 NA 0.4771 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000533812.2: chr11.hg19:g.130716157C>T NA hg19 0.02 9.897446 TTGxATA COVERED NOVEL RP11-890B15.2-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000385642.2 1 9.931907 KEEP 0 0 0 33 1161 CC 0.999998 0.999998 0 - 12 60 418 0 0 25.839428 278 60 10598 341 ENST00000533812.2 0.041379 1 NTM 50863 __UNKNOWN__ __UNKNOWN__ 11 132177563 132177563 __UNKNOWN__ Intron SNP C C T rs2305272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:132177563C>T ENST00000374786.1 + 4 1005 NTM_ENST00000539799.1_Intron|NTM_ENST00000425719.2_Intron|NTM_ENST00000474900.1_Intron|NTM_ENST00000374791.3_Intron|NTM_ENST00000374784.1_Intron|NTM_ENST00000427481.2_Intron NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin NA NA cell adhesion (GO:0007155)|neuron recognition (GO:0008038) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TTTCACCACACGTTACCGGTT 0.433 NA C||| 962 0.192093 0.034 0.2651 5008 , , NA 22196 0.37 NA 0.1839 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 C ,,, 283,4119 156.3+/-189.4 12,259,1930 71 71 71 ,,, -0.2 0 11 dbSNP_100 71 1571,7023 294.6+/-302.0 151,1269,2877 no intron,intron,intron,intron NTM NM_001048209.1,NM_001144058.1,NM_001144059.1,NM_016522.2 ,,, 163,1528,4807 TT,TC,CC 18.2802,6.4289,14.2659 ,,, ,,, 132177563 1854,11142 2201 4297 6498 SO:0001627 intron_variant AF126426 CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1 11q25 2013-01-11 ENSG00000182667 ENSG00000182667 50863 Immunoglobulin superfamily / I-set domain containing 17941 protein-coding gene gene with protein product neurotrimin, IgLON family member 2 607938 NA 7891157 Standard NM_016522 NM_001048209 NA Approved HNT, NTRI, IGLON2 uc001qgq.3 Q9P121 OTTHUMG00000066364 ENST00000374786.1:c.527-20C>T chr11.hg19:g.132177563C>T NA A0MTT2|Q6UXJ3|Q86VJ9 hg19 CCDS8491.1 0.02 9.173793 ACAxGTT COVERED NOVEL NTM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141937.1 0 2.377179 KEEP 0 2 63 30 1057 CC 0.999997 0.999997 0 + 11 60 410 0 0 27.42412 203 60 7417 299 ENST00000374786.1 0.051402 1 OPCML 4978 __UNKNOWN__ __UNKNOWN__ 11 132289179 132289179 __UNKNOWN__ 3'UTR SNP C C T rs145571726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:132289179C>T ENST00000331898.7 - 0 2524 OPCML_ENST00000524381.1_3'UTR NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like NA NA cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) opioid receptor activity (GO:0004985) endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) gattgataaacagtaaataga 0.343 NA C||| 19 0.00379393 0.0 0.0 5008 , , NA 18989 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537377 CCDS8492.1, CCDS31722.1 11q25 2013-01-11 2001-11-28 ENSG00000183715 ENSG00000183715 4978 Immunoglobulin superfamily / I-set domain containing 8143 protein-coding gene gene with protein product IgLON family member 1 600632 opioid-binding protein/cell adhesion molecule-like NA 8244387 Standard NM_001012393 XM_005271578 NA Approved OPCM, OBCAM, IGLON1 uc001qgs.3 Q14982 OTTHUMG00000163658 ENST00000331898.7:c.*908G>A chr11.hg19:g.132289179C>T NA B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6 hg19 CCDS8492.1 0.02 9.914579 AAAxAGT COVERED NOVEL OPCML-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000374689.3 1 4.213921 KEEP 0 0 0 14 509 CC 0.995343 0.995343 0 - 8 60 290 0 0 16.950449 280 60 10595 339 ENST00000331898.7 0.027778 1 SPATA19 219938 __UNKNOWN__ __UNKNOWN__ 11 133714543 133714543 __UNKNOWN__ Intron SNP G G A rs2282603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:133714543G>A ENST00000299140.3 - 3 190 SPATA19_ENST00000532889.1_Intron NM_174927.1 NP_777587.1 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) mitochondrial outer membrane (GO:0005741) cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1) 11 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) TGTCTGAAAGGTGAGAAATTC 0.483 NA G||| 465 0.0928514 0.0635 0.0706 5008 , , NA 21217 0.1339 NA 0.0388 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 G 223,4179 132.9+/-169.3 8,207,1986 83 86 85 -0.4 0 11 dbSNP_100 85 316,8278 112.9+/-173.0 10,296,3991 no intron SPATA19 NM_174927.1 18,503,5977 AA,AG,GG 3.677,5.0659,4.1474 133714543 539,12457 2201 4297 6498 SO:0001627 intron_variant AK098717 CCDS8493.1 11q25 2010-04-23 ENSG00000166118 219938 30614 protein-coding gene gene with protein product spergen 1, cancer/testis antigen 132 609805 NA 12477932 Standard NM_174927 XM_005271448 NA Approved FLJ25851, spergen1, SPAS1, CT132 uc001qgv.1 Q7Z5L4 ENST00000299140.3:c.136-8C>T chr11.hg19:g.133714543G>A NA Q8N7A9 hg19 CCDS8493.1 0.02 15.215463 AAGxTGA COVERED NOVEL SPATA19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393281.1 0 12.942113 KEEP 0 0 0 43 1538 GG 1 1 0 - 11 60 409 0 0 24.740666 353 60 13063 528 ENST00000299140.3 0.03022 1 IGSF9B 22997 __UNKNOWN__ __UNKNOWN__ 11 133794488 133794488 __UNKNOWN__ Intron SNP T T C rs2062368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:133794488T>C ENST00000533871.2 - 15 2350 IGSF9B_ENST00000321016.8_Intron NM_001277285.1 NP_001264214.1 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B NA NA homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151) dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGCTGTCTTATACAAGTGTCA 0.398 NA T||| 2478 0.494808 0.5061 0.4366 5008 , , NA 19216 0.6012 NA 0.4314 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097578 CCDS61010.1 11q25 2013-02-11 2005-10-12 2005-11-20 22997 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 32326 protein-coding gene gene with protein product 613773 NA Standard XM_290502 NM_001277285 NA Approved KIAA1030 uc031qfh.1 Q9UPX0 ENST00000533871.2:c.2119+226A>G chr11.hg19:g.133794488T>C NA G5EA26 hg19 0.02 9.424828 TTAxACA COVERED NOVEL IGSF9B-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000471431.1 0 2.404961 KEEP 0 0 0 8 221 TT 0.99257 0.99257 0 - 15 60 559 0 0 38.956973 216 60 7604 243 ENST00000533871.2 0.064935 1 IGSF9B 22997 __UNKNOWN__ __UNKNOWN__ 11 133794600 133794600 __UNKNOWN__ Intron SNP G G T rs3737491|rs386759167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:133794600G>T ENST00000533871.2 - 15 2350 IGSF9B_ENST00000321016.8_Intron NM_001277285.1 NP_001264214.1 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B NA NA homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151) dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) ACCAGGCACTGCCTTAGTTTC 0.498 NA T||| 1943 0.387979 0.1225 0.3746 5008 , , NA 17381 0.6012 NA 0.4235 False NA ,,, NA NA NA 2504 0.5 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097578 CCDS61010.1 11q25 2013-02-11 2005-10-12 2005-11-20 22997 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 32326 protein-coding gene gene with protein product 613773 NA Standard XM_290502 NM_001277285 NA Approved KIAA1030 uc031qfh.1 Q9UPX0 ENST00000533871.2:c.2119+114C>A chr11.hg19:g.133794600G>T NA G5EA26 hg19 0.02 21.456563 ACTxCCT COVERED NOVEL IGSF9B-002 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000471431.1 1 14.87617 KEEP 0 1 33 61 2093 GG 1 1 0 - 31 60 1158 0 0 80.993806 439 60 16044 650 ENST00000533871.2 0.065957 1 JAM3 83700 __UNKNOWN__ __UNKNOWN__ 11 134020222 134020222 __UNKNOWN__ 3'UTR SNP T T G rs11223716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134020222T>G ENST00000441717.3 + 0 1939 JAM3_ENST00000529443.2_3'UTR|NCAPD3_ENST00000526787.2_5'UTR|JAM3_ENST00000299106.4_3'UTR NM_001205329.1 NP_001192258.1 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 NA NA adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226) cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) integrin binding (GO:0005178) breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TAGGACAGTCTGTACCCAGAG 0.507 NA T||| 1532 0.305911 0.0477 0.4121 5008 , , NA 18635 0.4881 NA 0.2952 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF356518 CCDS8494.1, CCDS55799.1, CCDS8494.2 11q25 2013-01-29 ENSG00000166086 ENSG00000166086 83700 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 15532 protein-coding gene gene with protein product 606871 NA Standard NM_032801 NM_032801 NA Approved JAM-C, JAMC uc001qhb.3 Q9BX67 OTTHUMG00000167130 ENST00000441717.3:c.*1146T>G chr11.hg19:g.134020222T>G NA B3KWG9|Q8WWL8|Q96FL1 hg19 CCDS55799.1 0.02 8.672102 GTCxGTA COVERED NOVEL JAM3-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000393304.3 1 10.101508 KEEP 0 2 70 58 1844 TT 1 1 0 + 12 60 431 0 0 28.210025 225 60 8393 368 ENST00000441717.3 0.050633 1 NCAPD3 23310 __UNKNOWN__ __UNKNOWN__ 11 134028447 134028447 __UNKNOWN__ Intron SNP G G A rs55683807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134028447G>A ENST00000534548.2 - 30 3932 NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654) methylated histone binding (GO:0035064) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TTTCAAAAACGgatatatgat 0.393 NA G||| 516 0.103035 0.003 0.1643 5008 , , NA 18293 0.2688 NA 0.0189 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK124878 CCDS31723.1 11q25 2008-02-04 ENSG00000151503 ENSG00000151503 23310 28952 protein-coding gene gene with protein product 609276 NA 7584044, 8619474, 14532007 Standard NM_015261 NM_015261 NA Approved hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6 uc001qhd.1 P42695 OTTHUMG00000167172 ENST00000534548.2:c.3868-57C>T chr11.hg19:g.134028447G>A NA A6NFS2|Q4KMQ9 hg19 CCDS31723.1 0.02 4.753974 AACxGAT COVERED NOVEL NCAPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393575.2 1 5.116302 KEEP 0 0 0 17 581 GG 0.999366 0.999351 0 - 5 60 186 0 0 12.280535 99 60 3548 135 ENST00000534548.2 0.048077 0.999984 ACAD8 27034 __UNKNOWN__ __UNKNOWN__ 11 134128313 134128313 __UNKNOWN__ Intron SNP G G T rs11223738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134128313G>T ENST00000281182.4 + 4 486 ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Intron|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Intron NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 NA NA branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574) mitochondrial matrix (GO:0005759) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) Flavin adenine dinucleotide(DB03147) ttactccactgccctgccctt 0.418 NA G||| 1684 0.336262 0.2935 0.3559 5008 , , NA 19092 0.3889 NA 0.2972 False NA ,,, NA NA NA 2504 0.3661 NA NA NA GBM(65;238 1125 33403 41853 48889) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF126245 CCDS8498.1 11q25 2014-09-17 2010-04-30 ENSG00000151498 ENSG00000151498 27034 87 protein-coding gene gene with protein product 604773 acyl-Coenzyme A dehydrogenase family, member 8 NA 10524212 Standard NM_014384 NM_014384 NA Approved uc001qhk.3 Q9UKU7 OTTHUMG00000167177 ENST00000281182.4:c.381-96G>T chr11.hg19:g.134128313G>T NA B7Z5W4|Q6ZWP6|Q9BUS8 hg19 CCDS8498.1 0.02 7.906016 ACTxCCC COVERED NOVEL ACAD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393607.1 0 11.974468 KEEP 0 1 32 51 1835 GG 1 1 0 + 13 60 453 0 0 30.016072 209 60 7964 329 ENST00000281182.4 0.058559 1 GLB1L3 112937 __UNKNOWN__ __UNKNOWN__ 11 134146025 134146025 __UNKNOWN__ 5'UTR SNP G G A rs2443558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134146025G>A ENST00000389887.5 + 0 1887 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 NA NA carbohydrate metabolic process (GO:0005975) beta-galactosidase activity (GO:0004565) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TCTGCTGTGAGGCTGTGCTCG 0.697 NA OREG0021551 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 2350 0.469249 0.4418 0.4827 5008 , , NA 10974 0.4196 NA 0.5149 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS44780.1 11q25 2008-11-06 2008-01-29 ENSG00000166105 ENSG00000166105 112937 25147 protein-coding gene gene with protein product NA 12477932 Standard NM_138416 NM_001080407 NA Approved FLJ90231 uc009zdf.3 Q8NCI6 OTTHUMG00000133524 ENST00000389887.5:c.-610G>A chr11.hg19:g.134146025G>A 1608 A6NEM0|A6NN15|Q6P3S3|Q96FF8 hg19 0.02 18.103389 TGAxGCT COVERED NOVEL GLB1L3-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000257497.3 3 10.503154 KEEP 0 5 139 84 2954 GG 1 1 0 + 38 60 1343 0 0 96.544348 395 60 14583 663 ENST00000389887.5 0.08776 1 GLB1L3 112937 __UNKNOWN__ __UNKNOWN__ 11 134158745 134158745 __UNKNOWN__ Silent SNP A A G rs3824995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134158745A>G ENST00000431683.2 + 7 690 c.690A>G c.(688-690)tcA>tcG p.S230S GLB1L3_ENST00000389887.5_Silent_p.S230S NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 230 NA carbohydrate metabolic process (GO:0005975) beta-galactosidase activity (GO:0004565) p.S230S(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) AGTATGGCTCATTCAATAAGG 0.502 NA A||| 1170 0.233626 0.1589 0.1311 5008 , , NA 20634 0.3502 NA 0.1759 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) A 670,3288 56,558,1365 78 78 78 690 -8.2 0 11 dbSNP_107 78 1529,6781 142,1245,2768 no coding-synonymous GLB1L3 NM_001080407.2 198,1803,4133 GG,GA,AA 18.3995,16.9277,17.9247 230/654 134158745 2199,10069 1979 4155 6134 SO:0001819 synonymous_variant CCDS44780.1 11q25 2008-11-06 2008-01-29 ENSG00000166105 ENSG00000166105 112937 25147 protein-coding gene gene with protein product NA 12477932 Standard NM_138416 NM_001080407 NA Approved FLJ90231 uc009zdf.3 Q8NCI6 OTTHUMG00000133524 ENST00000431683.2:c.690A>G chr11.hg19:g.134158745A>G NA A6NEM0|A6NN15|Q6P3S3|Q96FF8 hg19 CCDS44780.1 0.02 3.912787 CTCxTTC COVERED NOVEL GLB1L3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393625.1 0 3.310067 KEEP 0 0 0 11 343 AA 0.993072 0.993072 0 + 9 60 278 0 0 17.520654 135 60 4900 192 ENST00000431683.2 0.0625 1 GLB1L3 112937 __UNKNOWN__ __UNKNOWN__ 11 134158817 134158817 __UNKNOWN__ Intron SNP A A C rs10894794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134158817A>C ENST00000431683.2 + 7 729 GLB1L3_ENST00000389887.5_Intron NM_001080407.2 NP_001073876.2 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1-like 3 NA NA carbohydrate metabolic process (GO:0005975) beta-galactosidase activity (GO:0004565) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CCATGTTTACATGCCTCCTTC 0.498 NA A||| 1170 0.233626 0.1589 0.1311 5008 , , NA 19445 0.3502 NA 0.1759 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 A 702,3426 59,584,1421 44 45 45 -7.5 0 11 dbSNP_120 45 1546,6854 146,1254,2800 no intron GLB1L3 NM_001080407.2 205,1838,4221 CC,CA,AA 18.4048,17.0058,17.9438 134158817 2248,10280 2064 4200 6264 SO:0001627 intron_variant CCDS44780.1 11q25 2008-11-06 2008-01-29 ENSG00000166105 ENSG00000166105 112937 25147 protein-coding gene gene with protein product NA 12477932 Standard NM_138416 NM_001080407 NA Approved FLJ90231 uc009zdf.3 Q8NCI6 OTTHUMG00000133524 ENST00000431683.2:c.729+33A>C chr11.hg19:g.134158817A>C NA A6NEM0|A6NN15|Q6P3S3|Q96FF8 hg19 CCDS44780.1 0.02 4.720277 TACxTGC COVERED NOVEL GLB1L3-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393625.1 0 5.115703 KEEP 0 0 0 17 540 AA 0.999366 0.999366 0 + 9 60 360 0 0 25.703869 134 60 4919 200 ENST00000431683.2 0.062937 1 GLB1L2 89944 __UNKNOWN__ __UNKNOWN__ 11 134237113 134237113 __UNKNOWN__ Intron SNP C C A rs10791357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134237113C>A ENST00000535456.2 + 9 992 GLB1L2_ENST00000389881.3_Intron|GLB1L2_ENST00000339772.7_Intron|GLB1L2_ENST00000529077.1_Intron NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 NA NA carbohydrate metabolic process (GO:0005975) extracellular region (GO:0005576) beta-galactosidase activity (GO:0004565) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TTTTGTCTGGCCAGCCTGCTT 0.557 NA C||| 1115 0.222644 0.0492 0.353 5008 , , NA 16891 0.371 NA 0.2147 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 C 387,4015 188.1+/-214.6 18,351,1832 71 68 69 -2.8 0 11 dbSNP_120 69 1794,6800 317.0+/-313.0 179,1436,2682 no intron GLB1L2 NM_138342.3 197,1787,4514 AA,AC,CC 20.875,8.7915,16.7821 134237113 2181,10815 2201 4297 6498 SO:0001627 intron_variant CCDS31724.1 11q25 2008-01-29 ENSG00000149328 ENSG00000149328 89944 25129 protein-coding gene gene with protein product NA 12975309 Standard NM_138342 NM_138342 NA Approved uc001qhp.3 Q8IW92 OTTHUMG00000167179 ENST00000535456.2:c.805-38C>A chr11.hg19:g.134237113C>A NA A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3 hg19 CCDS31724.1 0.02 -0.428594 TGGxCAG COVERED NOVEL GLB1L2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393629.2 0 2.407803 KEEP 0 0 0 8 281 CC 0.99257 0.9474 0 + 4 60 148 0 0 10.69842 45 60 1583 62 ENST00000535456.2 0.081633 0.954491 GLB1L2 89944 __UNKNOWN__ __UNKNOWN__ 11 134240142 134240142 __UNKNOWN__ Intron SNP T T C rs10791358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr11:134240142T>C ENST00000535456.2 + 12 1296 GLB1L2_ENST00000389881.3_Intron|GLB1L2_ENST00000339772.7_Intron|GLB1L2_ENST00000529077.1_Intron NM_138342.3 NP_612351.2 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 NA NA carbohydrate metabolic process (GO:0005975) extracellular region (GO:0005576) beta-galactosidase activity (GO:0004565) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GAGCAGGCAGTGACATTTGGG 0.602 NA T||| 1544 0.308307 0.0507 0.4856 5008 , , NA 18573 0.4206 NA 0.3549 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 T 484,3918 225.9+/-241.6 38,408,1755 126 109 115 -1.6 0 11 dbSNP_120 115 3108,5486 474.2+/-368.8 566,1976,1755 no intron GLB1L2 NM_138342.3 604,2384,3510 CC,CT,TT 36.1648,10.995,27.6393 134240142 3592,9404 2201 4297 6498 SO:0001627 intron_variant CCDS31724.1 11q25 2008-01-29 ENSG00000149328 ENSG00000149328 89944 25129 protein-coding gene gene with protein product NA 12975309 Standard NM_138342 NM_138342 NA Approved uc001qhp.3 Q8IW92 OTTHUMG00000167179 ENST00000535456.2:c.1109-45T>C chr11.hg19:g.134240142T>C NA A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3 hg19 CCDS31724.1 0.02 8.489482 CAGxGAC COVERED NOVEL GLB1L2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000393629.2 1 6.314235 KEEP 0 0 0 21 581 TT 0.999869 0.999869 0 + 8 60 291 0 0 18.31961 193 60 6427 265 ENST00000535456.2 0.039801 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 61899 61899 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:61899A>G NA NA None (None upstream) : RP11-598F7.1 (5738 downstream) NA NA NA cagcctcccaaagtgttggga 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.61899A>G NA hg19 0.02 -0.035094 CCAxAGT UNCOVERED NOVEL 0 0 3.009071 KEEP 1 0 0 10 314 AA 0.99254 0.019833 0 2 22 75 0 0 7.250055 2 23 78 22 0.5 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 92018 92018 __UNKNOWN__ IGR SNP T T C rs376561453 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:92018T>C NA NA AC215219.1 (18696 upstream) : AC026369.1 (55033 downstream) NA NA NA GACTCCACACTCTCCTGGGTT 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.92018T>C NA hg19 0.02 -0.193013 CACxCTC UNCOVERED NOVEL 0 1 2.708367 KEEP 3 0 0 9 287 TT 0 0 0 9 40 324 0 0 30.229855 13 48 498 35 0.409091 0.457757 IQSEC3 440073 __UNKNOWN__ __UNKNOWN__ 12 274647 274647 __UNKNOWN__ Silent SNP T T C rs4980859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:274647T>C ENST00000538872.1 + 10 2875 c.2757T>C c.(2755-2757)ttT>ttC p.F919F RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Silent_p.F919F|IQSEC3_ENST00000382841.2_Silent_p.F616F Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 919 PH. NA actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CGTACACCTTTTGCAAGTCAG 0.488 NA C||| 1306 0.260783 0.087 0.3199 5008 , , NA 23066 0.3393 NA 0.326 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 C , 593,3813 771.3+/-413.8 37,519,1647 189 176 180 2757,1848 4.9 1 12 dbSNP_111 180 2729,5871 680.5+/-403.6 434,1861,2005 yes coding-synonymous,coding-synonymous IQSEC3 NM_001170738.1,NM_015232.1 , 471,2380,3652 CC,CT,TT 31.7326,13.4589,25.5421 , 919/1183,616/760 274647 3322,9684 2203 4300 6503 SO:0001819 synonymous_variant AB029033 CCDS31725.1, CCDS53728.1 12p13.33 2014-03-18 ENSG00000120645 ENSG00000120645 440073 29193 protein-coding gene gene with protein product 612118 NA 10470851 Standard XM_495902 NM_001170738 NA Approved KIAA1110, MGC30156 uc001qhw.2 Q9UPP2 OTTHUMG00000167975 ENST00000538872.1:c.2757T>C chr12.hg19:g.274647T>C NA A6NIF2|A6NKV9|Q8TB43 hg19 CCDS53728.1 0.02 11.410562 CTTxTGC COVERED NOVEL IQSEC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397382.3 2 10.700161 KEEP 0 2 64 58 1845 TT 1 1 0 + 9 60 339 0 0 21.323153 244 60 8809 388 ENST00000538872.1 0.035573 1 IQSEC3 440073 __UNKNOWN__ __UNKNOWN__ 12 280349 280349 __UNKNOWN__ Intron SNP C C A rs2291919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:280349C>A ENST00000538872.1 + 13 3232 RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Intron|IQSEC3_ENST00000382841.2_Intron|IQSEC3_ENST00000537151.1_Intron Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 NA NA actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCTGGTTGCCCAGGTGAGTGA 0.557 NA C||| 1351 0.269768 0.146 0.2522 5008 , , NA 15504 0.3948 NA 0.2893 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 C , 798,3608 319.9+/-296.3 71,656,1476 193 191 192 , 3.3 1 12 dbSNP_100 192 2543,6057 415.8+/-351.9 362,1819,2119 no intron,intron IQSEC3 NM_001170738.1,NM_015232.1 , 433,2475,3595 AA,AC,CC 29.5698,18.1117,25.6881 , , 280349 3341,9665 2203 4300 6503 SO:0001627 intron_variant AB029033 CCDS31725.1, CCDS53728.1 12p13.33 2014-03-18 ENSG00000120645 ENSG00000120645 440073 29193 protein-coding gene gene with protein product 612118 NA 10470851 Standard XM_495902 NM_001170738 NA Approved KIAA1110, MGC30156 uc001qhw.2 Q9UPP2 OTTHUMG00000167975 ENST00000538872.1:c.3114+22C>A chr12.hg19:g.280349C>A NA A6NIF2|A6NKV9|Q8TB43 hg19 CCDS53728.1 0.02 12.997229 GCCxAGG COVERED NOVEL IQSEC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397382.3 1 10.834677 KEEP 0 0 0 36 1249 CC 0.999999 0.999999 0 + 12 60 432 0 0 26.506973 321 60 11860 429 ENST00000538872.1 0.036036 1 IQSEC3 440073 __UNKNOWN__ __UNKNOWN__ 12 284930 284930 __UNKNOWN__ 3'UTR SNP C C T rs7959974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:284930C>T ENST00000538872.1 + 0 4398 RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_3'UTR Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 NA NA actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AGCAGGGCCACGGGATCGCGA 0.562 NA C||| 2223 0.44389 0.6021 0.3617 5008 , , NA 19125 0.4038 NA 0.3867 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029033 CCDS31725.1, CCDS53728.1 12p13.33 2014-03-18 ENSG00000120645 ENSG00000120645 440073 29193 protein-coding gene gene with protein product 612118 NA 10470851 Standard XM_495902 NM_001170738 NA Approved KIAA1110, MGC30156 uc001qhw.2 Q9UPP2 OTTHUMG00000167975 ENST00000538872.1:c.*731C>T chr12.hg19:g.284930C>T NA A6NIF2|A6NKV9|Q8TB43 hg19 CCDS53728.1 0.02 10.895324 CCAxGGG COVERED NOVEL IQSEC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397382.3 1 21.066678 KEEP 0 0 0 70 2402 CC 1 1 0 + 9 60 338 0 0 21.177864 247 60 8895 397 ENST00000538872.1 0.035156 1 IQSEC3 440073 __UNKNOWN__ __UNKNOWN__ 12 285027 285027 __UNKNOWN__ 3'UTR SNP C C A rs7960096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:285027C>A ENST00000538872.1 + 0 4495 RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_3'UTR Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 NA NA actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012) cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211) ARF guanyl-nucleotide exchange factor activity (GO:0005086) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GTGTACGCACCGGCATGTGCA 0.567 NA A||| 2373 0.473842 0.6399 0.3905 5008 , , NA 19971 0.4107 NA 0.4105 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029033 CCDS31725.1, CCDS53728.1 12p13.33 2014-03-18 ENSG00000120645 ENSG00000120645 440073 29193 protein-coding gene gene with protein product 612118 NA 10470851 Standard XM_495902 NM_001170738 NA Approved KIAA1110, MGC30156 uc001qhw.2 Q9UPP2 OTTHUMG00000167975 ENST00000538872.1:c.*828C>A chr12.hg19:g.285027C>A NA A6NIF2|A6NKV9|Q8TB43 hg19 CCDS53728.1 0.02 13.534786 CACxGGC COVERED NOVEL IQSEC3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397382.3 5 17.355058 KEEP 0 3 98 92 3175 CC 1 1 0 + 14 60 524 0 0 33.723685 327 60 11560 548 ENST00000538872.1 0.041056 1 SLC6A12 6539 __UNKNOWN__ __UNKNOWN__ 12 299542 299542 __UNKNOWN__ 3'UTR SNP G G A rs1051104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:299542G>A ENST00000428720.1 - 0 3280 SLC6A12_ENST00000359674.4_3'UTR|SLC6A12_ENST00000424061.2_3'UTR|SLC6A12_ENST00000397296.2_3'UTR NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 NA NA amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCAGAGGAACGGACAGTGCAG 0.517 NA G||| 2287 0.456669 0.556 0.3545 5008 , , NA 22551 0.4018 NA 0.3807 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L42300 CCDS8501.1 12p13 2013-07-19 2013-07-19 ENSG00000111181 ENSG00000111181 6539 Solute carriers 11045 protein-coding gene gene with protein product betaine/GABA transporter-1 603080 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 NA 7589472 Standard NM_003044 NM_003044 NA Approved BGT-1 uc009zdh.2 P48065 OTTHUMG00000090309 ENST00000428720.1:c.*692C>T chr12.hg19:g.299542G>A NA A0AV52|B2R992|D3DUN8 hg19 CCDS8501.1 0.02 14.765908 AACxGAC COVERED NOVEL SLC6A12-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206671.2 2 20.99818 KEEP 0 1 35 82 2728 GG 1 1 0 - 19 60 692 0 0 45.474596 363 60 12527 566 ENST00000428720.1 0.049738 1 SLC6A12 6539 __UNKNOWN__ __UNKNOWN__ 12 299715 299715 __UNKNOWN__ 3'UTR SNP A A G rs542736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:299715A>G ENST00000428720.1 - 0 3107 SLC6A12_ENST00000359674.4_3'UTR|SLC6A12_ENST00000424061.2_3'UTR|SLC6A12_ENST00000397296.2_3'UTR NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 NA NA amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GACGGCATGCAAAGGCTTGCC 0.527 NA G||| 2500 0.499201 0.6452 0.3775 5008 , , NA 21417 0.4058 NA 0.4095 False NA ,,, NA NA NA 2504 0.5767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L42300 CCDS8501.1 12p13 2013-07-19 2013-07-19 ENSG00000111181 ENSG00000111181 6539 Solute carriers 11045 protein-coding gene gene with protein product betaine/GABA transporter-1 603080 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 NA 7589472 Standard NM_003044 NM_003044 NA Approved BGT-1 uc009zdh.2 P48065 OTTHUMG00000090309 ENST00000428720.1:c.*519T>C chr12.hg19:g.299715A>G NA A0AV52|B2R992|D3DUN8 hg19 CCDS8501.1 0.02 11.751775 TGCxAAG COVERED NOVEL SLC6A12-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206671.2 2 17.6845 KEEP 0 1 32 70 2108 AA 1 1 0 - 16 60 582 0 0 39.417121 256 60 9226 401 ENST00000428720.1 0.058824 1 SLC6A12 6539 __UNKNOWN__ __UNKNOWN__ 12 299887 299887 __UNKNOWN__ 3'UTR SNP C C T rs2075228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:299887C>T ENST00000428720.1 - 0 2935 SLC6A12_ENST00000359674.4_3'UTR|SLC6A12_ENST00000424061.2_3'UTR|SLC6A12_ENST00000397296.2_3'UTR NM_001122848.2 NP_001116320.1 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter transporter), member 12 NA NA amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) AAATGCAGTACGCTCTAACAA 0.498 NA C||| 2194 0.438099 0.5265 0.3415 5008 , , NA 22578 0.4048 NA 0.3559 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L42300 CCDS8501.1 12p13 2013-07-19 2013-07-19 ENSG00000111181 ENSG00000111181 6539 Solute carriers 11045 protein-coding gene gene with protein product betaine/GABA transporter-1 603080 solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 NA 7589472 Standard NM_003044 NM_003044 NA Approved BGT-1 uc009zdh.2 P48065 OTTHUMG00000090309 ENST00000428720.1:c.*347G>A chr12.hg19:g.299887C>T NA A0AV52|B2R992|D3DUN8 hg19 CCDS8501.1 0.02 11.346801 GTAxGCT COVERED NOVEL SLC6A12-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206671.2 3 23.474362 KEEP 0 0 0 78 2675 CC 1 1 0 - 16 60 590 0 0 39.907499 268 60 9372 447 ENST00000428720.1 0.056338 1 CCDC77 84318 __UNKNOWN__ __UNKNOWN__ 12 551460 551460 __UNKNOWN__ 3'UTR SNP C C T rs2302258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:551460C>T ENST00000239830.4 + 0 2020 CCDC77_ENST00000412006.2_3'UTR|CCDC77_ENST00000422000.1_3'UTR NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 NA NA centrosome (GO:0005813)|membrane (GO:0016020) cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) GAATACTTTCCCTAAAGAGAG 0.458 NA OREG0021559 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 369 0.0736821 0.003 0.085 5008 , , NA 19061 0.2222 NA 0.0089 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027638 CCDS8503.1, CCDS44781.1 12p13.33 2006-02-16 ENSG00000120647 ENSG00000120647 84318 28203 protein-coding gene gene with protein product NA 12477932 Standard NM_032358 NM_001130148 NA Approved MGC13183 uc001qig.3 Q9BR77 OTTHUMG00000129214 ENST00000239830.4:c.*374C>T chr12.hg19:g.551460C>T 589 B4DDE8 hg19 CCDS8503.1 0.02 6.622586 TTCxCTA COVERED NOVEL CCDC77-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251296.1 1 10.808837 KEEP 0 0 0 36 1239 CC 0.999999 0.999999 0 + 7 60 243 0 0 14.701382 180 60 6551 276 ENST00000239830.4 0.037433 1 B4GALNT3 283358 __UNKNOWN__ __UNKNOWN__ 12 665655 665655 __UNKNOWN__ Intron SNP G G A rs2075027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:665655G>A ENST00000266383.5 + 15 2073 NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 NA NA metabolic process (GO:0008152) Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021) acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) ctcacacaccgtgctaccCTC 0.542 NA G||| 782 0.15615 0.0484 0.0634 5008 , , NA 19474 0.4038 NA 0.0666 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB089940 CCDS8504.1 12p13.33 2013-02-19 ENSG00000139044 ENSG00000139044 283358 2.4.1.- Beta 4-glycosyltransferases 24137 protein-coding gene gene with protein product 612220 NA 12966086 Standard NM_173593 NM_173593 NA Approved B4GalNac-T3, FLJ16224, FLJ40362 uc001qii.1 Q6L9W6 OTTHUMG00000129283 ENST00000266383.5:c.2061-58G>A chr12.hg19:g.665655G>A NA Q6ZNC1|Q8N7T6 hg19 CCDS8504.1 0.02 8.819871 ACCxTGC COVERED NOVEL B4GALNT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251406.2 1 10.532289 KEEP 0 0 0 35 1144 GG 0.999999 0.999999 0 + 9 60 337 0 0 21.887644 200 60 6665 293 ENST00000266383.5 0.043062 1 NINJ2 4815 __UNKNOWN__ __UNKNOWN__ 12 772458 772458 __UNKNOWN__ Intron SNP C C T rs3782851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:772458C>T ENST00000305108.4 - 1 452 RP11-218M22.1_ENST00000543884.1_RNA NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 NA NA nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246) integral component of plasma membrane (GO:0005887) large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CCTCTACTCCCGGTCTCCCCT 0.498 NA C||| 506 0.101038 0.0061 0.1023 5008 , , NA 21141 0.1915 NA 0.0815 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C 72,4334 64.7+/-102.0 1,70,2132 84 83 83 3.4 0 12 dbSNP_107 83 550,8050 150.6+/-205.5 21,508,3771 no intron NINJ2 NM_016533.4 22,578,5903 TT,TC,CC 6.3953,1.6341,4.7824 772458 622,12384 2203 4300 6503 SO:0001627 intron_variant AF205633 CCDS8505.1, CCDS73418.1 12p13 2008-08-05 ENSG00000171840 ENSG00000171840 4815 7825 protein-coding gene gene with protein product 607297 NA 10627596 Standard NM_016533 XM_005253689 NA Approved uc001qil.3 Q9NZG7 OTTHUMG00000090311 ENST00000305108.4:c.171+35G>A chr12.hg19:g.772458C>T NA hg19 CCDS8505.1 0.02 13.907624 TCCxGGT COVERED NOVEL NINJ2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206673.2 2 24.980966 KEEP 0 0 0 83 2903 CC 1 1 0 - 13 60 482 0 0 30.386566 331 60 11856 547 ENST00000305108.4 0.037791 1 WNK1 65125 __UNKNOWN__ __UNKNOWN__ 12 993930 993930 __UNKNOWN__ Silent SNP C C T rs7300444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:993930C>T ENST00000315939.6 + 19 4603 c.3960C>T c.(3958-3960)aaC>aaT p.N1320N WNK1_ENST00000530271.2_Silent_p.N1818N|WNK1_ENST00000340908.4_Silent_p.N913N|WNK1_ENST00000537687.1_Silent_p.N1580N|WNK1_ENST00000535572.1_Silent_p.N1073N NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1320 NA intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794) cytoplasm (GO:0005737) ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674) breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AAGGACCCAACACAGCACCTC 0.483 NA T||| 1998 0.398962 0.2685 0.428 5008 , , NA 20670 0.5377 NA 0.4404 False NA ,,, NA NA NA 2504 0.3691 NA NA NA Colon(19;451 567 6672 12618 28860) NA 0 T ,,, 1307,3099 698.6+/-406.4 187,933,1083 130 113 119 4740,3219,3960,4716 -1.8 0.1 12 dbSNP_116 119 3787,4813 614.3+/-396.2 847,2093,1360 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous WNK1 NM_001184985.1,NM_014823.2,NM_018979.3,NM_213655.4 ,,, 1034,3026,2443 TT,TC,CC 44.0349,29.6641,39.1665 ,,, 1580/2643,1073/2135,1320/2383,1572/2635 993930 5094,7912 2203 4300 6503 SO:0001819 synonymous_variant AJ296290 CCDS8506.1, CCDS53731.1, CCDS73419.1 12p13.3 2014-09-17 2005-01-19 2005-01-21 ENSG00000060237 ENSG00000060237 65125 14540 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 167 605232 protein kinase, lysine deficient 1, hereditary sensory neuropathy, type II PRKWNK1, HSN2 NA Standard NM_018979 NM_001184985 NA Approved HSAN2, PPP1R167 uc031qfk.1 Q9H4A3 OTTHUMG00000090321 ENST00000315939.6:c.3960C>T chr12.hg19:g.993930C>T NA A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9 hg19 CCDS8506.1 0.02 16.944566 CAAxACA COVERED NOVEL WNK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206683.1 3 23.694942 KEEP 0 1 32 90 3189 CC 1 1 0 + 14 60 499 0 0 29.668901 426 60 16098 642 ENST00000315939.6 0.031818 1 WNK1 65125 __UNKNOWN__ __UNKNOWN__ 12 995179 995179 __UNKNOWN__ Missense_Mutation SNP C C G rs577485048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:995179C>G ENST00000315939.6 + 19 5852 c.5209C>G c.(5209-5211)Cca>Gca p.P1737A WNK1_ENST00000530271.2_Missense_Mutation_p.P2235A|WNK1_ENST00000340908.4_Missense_Mutation_p.P1330A|WNK1_ENST00000537687.1_Missense_Mutation_p.P1997A|WNK1_ENST00000535572.1_Missense_Mutation_p.P1490A NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1737 NA intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794) cytoplasm (GO:0005737) ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674) p.P1997T(1)|p.P1737T(1) breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) AGTTTCTACCCCAGTCAGCAC 0.443 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 19140 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(19;451 567 6672 12618 28860) NA 2 Substitution - Missense(2) lung(2) 139 130 133 NA NA 12 NA 995179 2203 4300 6503 SO:0001583 missense AJ296290 CCDS8506.1, CCDS53731.1, CCDS73419.1 12p13.3 2014-09-17 2005-01-19 2005-01-21 ENSG00000060237 ENSG00000060237 65125 14540 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 167 605232 protein kinase, lysine deficient 1, hereditary sensory neuropathy, type II PRKWNK1, HSN2 NA Standard NM_018979 NM_001184985 NA Approved HSAN2, PPP1R167 uc031qfk.1 Q9H4A3 OTTHUMG00000090321 ENST00000315939.6:c.5209C>G chr12.hg19:g.995179C>G ENSP00000313059:p.Pro1737Ala NA A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9 hg19 CCDS8506.1 0.02 6.06204 ACCxCAG COVERED . . . . . . . . . . C 9.241 1.038367 0.19669 . . ENSG00000060237 ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908 T;T;T;T;T 0.76578 -1.0;-0.96;-0.93;-1.03;0.28 5.87 4.98 0.66077 . 0.087169 0.50627 D 0.000111 T 0.72036 0.3411 M 0.65498 2.005 0.50632 D 0.999881 B;B;B 0.20671 0.047;0.047;0.016 B;B;B 0.24848 0.056;0.015;0.007 T 0.69239 -0.5197 10 0.42905 T 0.14 -8.719 4.394 0.11355 0.1286:0.6096:0.1246:0.1372 . 1490;1490;1737 Q9H4A3-2;F5GWT4;Q9H4A3 .;.;WNK1_HUMAN A 1490;1737;1997;910;2235;1330 ENSP00000441972:P1490A;ENSP00000313059:P1737A;ENSP00000444465:P1997A;ENSP00000433548:P2235A;ENSP00000341292:P1330A ENSP00000252477:P910A P + 1 0 WNK1 865440 0.977000 0.34250 1.000000 0.80357 0.263000 0.26337 3.216000 0.51176 1.620000 0.50308 0.655000 0.94253 CCA NOVEL WNK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206683.1 1 18.359433 KEEP 0 0 0 61 2130 CC 1 1 0 + 9 60 324 0 0 20.882376 185 60 6794 317 ENST00000315939.6 0.046392 1 RAD52 5893 __UNKNOWN__ __UNKNOWN__ 12 1039093 1039093 __UNKNOWN__ Intron SNP C C T rs200457798 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:1039093C>T ENST00000358495.3 - 5 419 RAD52_ENST00000430095.2_Intron|RAD52_ENST00000536177.1_Intron|RAD52_ENST00000545564.1_Intron|RAD52_ENST00000539046.1_Intron NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) NA NA DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802) central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GGACACTGACCGCTGGGCCAC 0.537 NA Homologous recombination NA NA NA NA NA NA NA NA NA NA 0 C 6,4400 11.4+/-27.6 0,6,2197 115 105 108 2.8 0 12 108 0,8600 0,0,4300 no intron RAD52 NM_134424.2 0,6,6497 TT,TC,CC 0.0,0.1362,0.0461 1039093 6,13000 2203 4300 6503 SO:0001627 intron_variant CCDS8507.2 12p13-p12.2 2008-08-05 2001-11-28 ENSG00000002016 ENSG00000002016 5893 9824 protein-coding gene gene with protein product 600392 RAD52 (S. cerevisiae) homolog NA 7774919, 18313388 Standard NM_134424 XM_005253721 NA Approved uc001qis.1 P43351 OTTHUMG00000090361 ENST00000358495.3:c.281-41G>A chr12.hg19:g.1039093C>T NA Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9 hg19 CCDS8507.2 0.02 24.157804 GACxGCT COVERED NOVEL RAD52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206733.2 2 41.528524 KEEP 0 0 0 138 4647 CC 1 1 0 - 29 60 1068 0 0 70.350795 565 60 19631 911 ENST00000358495.3 0.048822 1 ERC1 23085 __UNKNOWN__ __UNKNOWN__ 12 1213841 1213841 __UNKNOWN__ Intron SNP C C T rs546398507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:1213841C>T ENST00000536573.2 + 2 8 ERC1_ENST00000543086.3_Intron|ERC1_ENST00000355446.5_Intron|ERC1_ENST00000360905.4_Intron|ERC1_ENST00000397203.2_Intron|ERC1_ENST00000546231.2_Intron|ERC1_ENST00000589028.1_Intron Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 NA NA I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734) leucine zipper domain binding (GO:0043522) NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TTGCATACATCGGCTCTCACT 0.453 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 19959 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015617 CCDS8508.1, CCDS53732.1 12p13.3 2008-02-05 2006-08-14 2006-08-14 ENSG00000082805 ENSG00000082805 23085 17072 protein-coding gene gene with protein product 607127 RAB6 interacting protein 2 RAB6IP2 NA 10697956, 11929610 Standard NM_015064 NM_178040 NA Approved ELKS, KIAA1081, CAST2, MGC12974 uc001qjb.2 Q8IUD2 OTTHUMG00000130138 ENST00000536573.2:c.9-75C>T chr12.hg19:g.1213841C>T NA A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1 hg19 0.02 11.336947 CATxGGC COVERED NOVEL ERC1-003 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000397934.4 1 7.514348 KEEP 0 0 0 25 822 CC 0.999931 0.999931 0 + 24 60 869 0 0 63.983402 227 60 8468 311 ENST00000536573.2 0.095618 1 ERC1 23085 __UNKNOWN__ __UNKNOWN__ 12 1600978 1600978 __UNKNOWN__ 3'UTR SNP A A T rs1064125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:1600978A>T ENST00000397203.2 + 0 5339 ERC1_ENST00000543086.3_3'UTR|ERC1_ENST00000355446.5_3'UTR|ERC1_ENST00000360905.4_3'UTR|ERC1_ENST00000589028.1_3'UTR Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 NA NA I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734) leucine zipper domain binding (GO:0043522) NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ATTGTTAAGGACGTAGCGTAG 0.443 NA A||| 1677 0.334864 0.0401 0.3084 5008 , , NA 22102 0.7708 NA 0.1839 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015617 CCDS8508.1, CCDS53732.1 12p13.3 2008-02-05 2006-08-14 2006-08-14 ENSG00000082805 ENSG00000082805 23085 17072 protein-coding gene gene with protein product 607127 RAB6 interacting protein 2 RAB6IP2 NA 10697956, 11929610 Standard NM_015064 NM_178040 NA Approved ELKS, KIAA1081, CAST2, MGC12974 uc001qjb.2 Q8IUD2 OTTHUMG00000130138 ENST00000397203.2:c.*1582A>T chr12.hg19:g.1600978A>T NA A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1 hg19 CCDS8508.1 0.02 10.724902 AGGxCGT COVERED NOVEL ERC1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398380.2 3 13.540428 KEEP 0 0 0 45 1418 AA 1 1 0 + 16 60 582 0 0 38.7634 282 60 10029 387 ENST00000397203.2 0.053691 1 ADIPOR2 79602 __UNKNOWN__ __UNKNOWN__ 12 1896956 1896956 __UNKNOWN__ 3'UTR SNP C C T rs1044471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:1896956C>T ENST00000357103.4 + 0 3130 NM_024551.2 NP_078827.2 Q86V24 ADR2_HUMAN adiponectin receptor 2 NA NA adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) hormone binding (GO:0042562)|receptor activity (GO:0004872) endometrium(1)|large_intestine(3)|lung(7)|stomach(1) 12 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) ATTTTCCTCCCTTGCCCTTGC 0.453 NA C||| 1736 0.346645 0.1725 0.3372 5008 , , NA 21346 0.3889 NA 0.4702 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY424280 CCDS8511.1 12p13 2012-08-22 ENSG00000006831 ENSG00000006831 79602 GPCR / Unclassified : Adiponectin receptors 24041 protein-coding gene gene with protein product 607946 NA 12802337 Standard NM_024551 NM_024551 NA Approved PAQR2, ACDCR2 uc001qjm.3 Q86V24 OTTHUMG00000130139 ENST00000357103.4:c.*1718C>T chr12.hg19:g.1896956C>T NA Q53YY5|Q9H737 hg19 CCDS8511.1 0.02 6.638801 TCCxTTG COVERED NOVEL ADIPOR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252447.2 1 15.34967 KEEP 0 0 0 51 1793 CC 1 1 0 + 9 60 324 0 0 21.888085 142 60 5292 240 ENST00000357103.4 0.059603 1 CACNA2D4 93589 __UNKNOWN__ __UNKNOWN__ 12 1991971 1991971 __UNKNOWN__ Intron SNP A A G rs55779143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:1991971A>G ENST00000382722.5 - 13 1848 CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 NA NA calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908) voltage-gated calcium channel complex (GO:0005891) metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GTAACTTCTTACTCCCTGGGG 0.557 NA G||| 1840 0.367412 0.5008 0.1715 5008 , , NA 16083 0.4762 NA 0.1412 False NA ,,, NA NA NA 2504 0.4468 NA NA NA Colon(2;101 179 21030 23310 28141) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF516695 CCDS44785.1 12p13.33 2003-03-05 ENSG00000151062 ENSG00000151062 93589 Calcium channel subunits 20202 protein-coding gene gene with protein product 608171 NA 12181424 Standard NM_172364 NA Approved uc021qsx.1 Q7Z3S7 OTTHUMG00000168111 ENST00000382722.5:c.1485+61T>C chr12.hg19:g.1991971A>G NA Q7Z3S8|Q86XZ5|Q8IZS9 hg19 CCDS44785.1 0.02 7.433335 CTTxCTC COVERED NOVEL CACNA2D4-001 KNOWN non_canonical_U12|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000398230.2 0 3.911023 KEEP 0 0 0 13 396 AA 0.994391 0.994391 0 - 6 60 237 0 0 15.406399 157 60 5452 194 ENST00000382722.5 0.03681 1 LINC00940 100271702 __UNKNOWN__ __UNKNOWN__ 12 2039690 2039690 __UNKNOWN__ lincRNA SNP A A G rs2429172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2039690A>G ENST00000418006.1 - 0 1027 NR_036546.1 long intergenic non-protein coding RNA 940 NA NA NA cagagAGCTCACTCTGCCTGG 0.537 NA g||| 3527 0.704273 0.941 0.6037 5008 , , NA 19550 0.7133 NA 0.5159 False NA ,,, NA NA NA 2504 0.6401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK316036, DA269488 12p13.33 2013-05-30 ENSG00000235049 ENSG00000235049 100271702 48634 non-coding RNA RNA, long non-coding NA Standard NR_036546 NA Approved OTTHUMG00000168112 ENST00000418006.1: chr12.hg19:g.2039690A>G NA hg19 0.02 6.319956 CTCxCTC COVERED NOVEL LINC00940-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000398243.1 3 4.811076 KEEP 0 0 0 16 436 AA 0.997832 0.997832 0 - 12 60 420 0 0 28.714684 164 60 5554 198 ENST00000418006.1 0.068182 1 DCP1B 196513 __UNKNOWN__ __UNKNOWN__ 12 2055266 2055266 __UNKNOWN__ 3'UTR SNP T T C rs7222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2055266T>C ENST00000280665.6 - 0 2039 NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) hydrolase activity (GO:0016787) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ACATACTTTTTTTTTAAAAAA 0.303 NA T||| 2574 0.513978 0.5371 0.4063 5008 , , NA 17471 0.7292 NA 0.5149 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY146652 CCDS31727.1 12p13.33 2013-05-02 2013-05-02 ENSG00000151065 ENSG00000151065 196513 24451 protein-coding gene gene with protein product 609843 DCP1 decapping enzyme homolog B (S. cerevisiae) NA 12417715, 15067023 Standard NM_152640 NM_152640 NA Approved FLJ31638 uc001qjx.1 Q8IZD4 OTTHUMG00000168113 ENST00000280665.6:c.*106A>G chr12.hg19:g.2055266T>C NA B4DRD1|Q86XH9|Q96BP8|Q96MZ8 hg19 CCDS31727.1 0.02 11.332845 TTTxTTT COVERED NOVEL DCP1B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398244.1 3 10.736677 KEEP 0 3 104 72 2257 TT 1 1 0 - 16 60 599 0 1 40.511317 280 60 10076 457 ENST00000280665.6 0.054054 1 DCP1B 196513 __UNKNOWN__ __UNKNOWN__ 12 2077897 2077897 __UNKNOWN__ Intron SNP G G C rs2470425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2077897G>C ENST00000280665.6 - 4 399 DCP1B_ENST00000397173.4_Intron|DCP1B_ENST00000541700.1_Intron NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) hydrolase activity (GO:0016787) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) AAGTTAGGGAGAGGCCACTGG 0.368 NA C||| 3091 0.617212 0.8404 0.4582 5008 , , NA 16111 0.7312 NA 0.5557 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY146652 CCDS31727.1 12p13.33 2013-05-02 2013-05-02 ENSG00000151065 ENSG00000151065 196513 24451 protein-coding gene gene with protein product 609843 DCP1 decapping enzyme homolog B (S. cerevisiae) NA 12417715, 15067023 Standard NM_152640 NM_152640 NA Approved FLJ31638 uc001qjx.1 Q8IZD4 OTTHUMG00000168113 ENST00000280665.6:c.320-821C>G chr12.hg19:g.2077897G>C NA B4DRD1|Q86XH9|Q96BP8|Q96MZ8 hg19 CCDS31727.1 0.02 -0.368458 GGAxAGG COVERED NOVEL DCP1B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398244.1 0 5.417851 KEEP 0 0 0 18 652 GG 0.999859 0.899187 0 - 3 60 114 0 0 8.138647 39 60 1460 76 ENST00000280665.6 0.071429 0.899314 CACNA1C 775 __UNKNOWN__ __UNKNOWN__ 12 2786435 2786435 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2786435G>T ENST00000347598.4 + 42 5100 CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Intron NM_001129827.1|NM_199460.2 NP_001123299.1|NP_955630.2 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) CCTGGTCATTGCCTCTGACCT 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 15 17 16 NA NA 12 NA 2786435 1946 4135 6081 SO:0001627 intron_variant AF070589 CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1 12p13.3 2014-09-17 ENSG00000151067 ENSG00000151067 775 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1390 protein-coding gene gene with protein product 114205 CCHL1A1, CACNL1A1 NA 1650913, 16382099 Standard NM_000719 NM_001129832 NA Approved Cav1.2, CACH2, CACN2, TS, LQT8 uc001qjy.3 Q13936 OTTHUMG00000150243 ENST00000347598.4:c.5100+48G>T chr12.hg19:g.2786435G>T NA B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875 hg19 CCDS44788.1 0.02 1.031551 ATTxCCT COVERED NOVEL CACNA1C-017 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317035.1 0 3.174937 KEEP 0 0 0 11 207 GG 0.993072 0.992909 0 + 25 60 323 0 0 21.260406 65 60 1354 105 ENST00000347598.4 0.277778 0.999835 CACNA1C 775 __UNKNOWN__ __UNKNOWN__ 12 2795043 2795043 __UNKNOWN__ Intron SNP C C T rs373603282 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2795043C>T ENST00000347598.4 + 46 5824 CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399644.1_Intron NM_001129827.1|NM_199460.2 NP_001123299.1|NP_955630.2 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit NA NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542) caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018) alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661) ATGTGGTCGGCGGTTACTCCC 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 22 22 22 NA NA 12 NA 2795043 1933 4149 6082 SO:0001627 intron_variant AF070589 CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1 12p13.3 2014-09-17 ENSG00000151067 ENSG00000151067 775 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1390 protein-coding gene gene with protein product 114205 CCHL1A1, CACNL1A1 NA 1650913, 16382099 Standard NM_000719 NM_001129832 NA Approved Cav1.2, CACH2, CACN2, TS, LQT8 uc001qjy.3 Q13936 OTTHUMG00000150243 ENST00000347598.4:c.5824+35C>T chr12.hg19:g.2795043C>T NA B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875 hg19 CCDS44788.1 0.02 1.763458 CGGxGGT COVERED NOVEL CACNA1C-017 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317035.1 1 2.240213 KEEP 6 1 27 17 581 CC 0.999366 0.999274 0 + 7 27 251 0 0 17.623646 87 60 2981 142 ENST00000347598.4 0.074468 0.999907 FKBP4 2288 __UNKNOWN__ __UNKNOWN__ 12 2905367 2905367 __UNKNOWN__ Intron SNP C C T rs11062358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2905367C>T ENST00000001008.4 + 2 292 FKBP4_ENST00000540260.1_3'UTR NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa NA NA androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463) axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) CTGAGCTCCGCGTGTGCGGCA 0.597 NA C||| 1100 0.219649 0.1634 0.1614 5008 , , NA 16490 0.2758 NA 0.1322 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M88279 CCDS8512.1 12p13.33 2013-01-10 2002-08-29 ENSG00000004478 ENSG00000004478 2288 Tetratricopeptide (TTC) repeat domain containing 3720 protein-coding gene gene with protein product 600611 FK506-binding protein 4 (59kD) NA 1279700 Standard NM_002014 NA Approved FKBP59, FKBP52 uc001qkz.3 Q02790 OTTHUMG00000090429 ENST00000001008.4:c.106-937C>T chr12.hg19:g.2905367C>T NA D3DUQ1|Q9UCP1|Q9UCV7 hg19 CCDS8512.1 0.02 3.794725 CCGxGTG COVERED NOVEL FKBP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206861.1 2 19.259809 KEEP 0 0 0 64 2198 CC 1 0.999995 0 + 9 60 311 0 0 21.797024 103 60 3779 189 ENST00000001008.4 0.080357 0.999995 ITFG2 55846 __UNKNOWN__ __UNKNOWN__ 12 2923819 2923819 __UNKNOWN__ Intron SNP A A G rs55896412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2923819A>G ENST00000228799.2 + 1 235 ITFG2_ENST00000542548.1_Intron|ITFG2_ENST00000419778.2_Intron NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 NA NA germinal center B cell differentiation (GO:0002314) cytosol (GO:0005829)|nucleoplasm (GO:0005654) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) aacacagggaaactccgtctt 0.502 NA G||| 1311 0.261781 0.2973 0.1758 5008 , , NA 16254 0.2728 NA 0.1312 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF220048 CCDS8513.1 12p13.33 2006-11-29 2006-07-25 ENSG00000111203 ENSG00000111203 55846 30879 protein-coding gene gene with protein product NA 12477932 Standard NM_018463 NM_018463 NA Approved MDS028 uc001qlb.2 Q969R8 OTTHUMG00000130617 ENST00000228799.2:c.96+1797A>G chr12.hg19:g.2923819A>G NA A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6 hg19 CCDS8513.1 0.02 -0.087733 GGAxACT UNCOVERED NOVEL ITFG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253091.1 3 4.513754 KEEP 0 0 0 15 480 AA 0.99649 0.099371 0 + 2 60 78 0 0 6.581126 8 60 293 33 ENST00000228799.2 0.2 0.099721 ITFG2 55846 __UNKNOWN__ __UNKNOWN__ 12 2930645 2930645 __UNKNOWN__ Intron SNP C C A rs61916645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2930645C>A ENST00000228799.2 + 8 932 ITFG2_ENST00000542548.1_Intron|ITFG2_ENST00000419778.2_Intron NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 NA NA germinal center B cell differentiation (GO:0002314) cytosol (GO:0005829)|nucleoplasm (GO:0005654) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CTGCAGAACACCCCTCTCCCC 0.587 NA C||| 1066 0.212859 0.1884 0.1671 5008 , , NA 21621 0.1865 NA 0.1312 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 C 244,1140 25,194,473 56 50 51 -1.1 0 12 dbSNP_129 51 436,2746 27,382,1182 no intron ITFG2 NM_018463.3 52,576,1655 AA,AC,CC 13.7021,17.6301,14.8927 2930645 680,3886 692 1591 2283 SO:0001627 intron_variant AF220048 CCDS8513.1 12p13.33 2006-11-29 2006-07-25 ENSG00000111203 ENSG00000111203 55846 30879 protein-coding gene gene with protein product NA 12477932 Standard NM_018463 NM_018463 NA Approved MDS028 uc001qlb.2 Q969R8 OTTHUMG00000130617 ENST00000228799.2:c.794-64C>A chr12.hg19:g.2930645C>A NA A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6 hg19 CCDS8513.1 0.02 -0.421103 ACAxCCC COVERED NOVEL ITFG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253091.1 2 3.611723 KEEP 0 0 0 12 417 CC 0.993634 0.942364 0 + 3 60 109 0 0 7.459331 45 60 1629 60 ENST00000228799.2 0.0625 0.948402 NRIP2 83714 __UNKNOWN__ __UNKNOWN__ 12 2936049 2936049 __UNKNOWN__ 3'UTR SNP C C T rs3814250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2936049C>T ENST00000337508.4 - 0 1210 ITFG2_ENST00000542548.1_Intron NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) aspartic-type endopeptidase activity (GO:0004190) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GCAGAGCCTTCGACCCAGCCC 0.522 NA C||| 1028 0.205272 0.1619 0.1628 5008 , , NA 20975 0.1865 NA 0.1302 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK054740 CCDS8514.1 12p13.33 2008-02-05 ENSG00000053702 ENSG00000053702 83714 23078 protein-coding gene gene with protein product NA 11230166 Standard NM_031474 NM_031474 NA Approved DKFZP761G1913 uc001qlc.3 Q9BQI9 OTTHUMG00000130616 ENST00000337508.4:c.*324G>A chr12.hg19:g.2936049C>T NA A2RRE3|B4DV61 hg19 CCDS8514.1 0.02 10.36089 CTTxGAC COVERED NOVEL NRIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253090.4 0 16.250268 KEEP 0 0 0 54 1780 CC 1 1 0 - 17 60 607 0 0 40.614074 277 60 9920 424 ENST00000337508.4 0.057823 1 NRIP2 83714 __UNKNOWN__ __UNKNOWN__ 12 2936276 2936276 __UNKNOWN__ 3'UTR SNP A A G rs3814249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2936276A>G ENST00000337508.4 - 0 983 ITFG2_ENST00000542548.1_Intron NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) aspartic-type endopeptidase activity (GO:0004190) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGCAGACACCATAGTCCCCAG 0.592 NA G||| 1112 0.222045 0.1589 0.1643 5008 , , NA 18780 0.2272 NA 0.1561 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK054740 CCDS8514.1 12p13.33 2008-02-05 ENSG00000053702 ENSG00000053702 83714 23078 protein-coding gene gene with protein product NA 11230166 Standard NM_031474 NM_031474 NA Approved DKFZP761G1913 uc001qlc.3 Q9BQI9 OTTHUMG00000130616 ENST00000337508.4:c.*97T>C chr12.hg19:g.2936276A>G NA A2RRE3|B4DV61 hg19 CCDS8514.1 0.02 11.555215 ACCxTAG COVERED NOVEL NRIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253090.4 2 15.682216 KEEP 0 1 34 64 2003 AA 1 1 0 - 18 60 653 0 0 44.801154 265 60 9627 414 ENST00000337508.4 0.063604 1 NRIP2 83714 __UNKNOWN__ __UNKNOWN__ 12 2937298 2937298 __UNKNOWN__ Intron SNP G G A rs11062370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:2937298G>A ENST00000337508.4 - 4 619 ITFG2_ENST00000542548.1_Intron NM_031474.2 NP_113662.1 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) aspartic-type endopeptidase activity (GO:0004190) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCTCTACTATGGTTTCATCTC 0.488 NA G||| 1013 0.202276 0.1717 0.1628 5008 , , NA 17837 0.1885 NA 0.1282 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK054740 CCDS8514.1 12p13.33 2008-02-05 ENSG00000053702 ENSG00000053702 83714 23078 protein-coding gene gene with protein product NA 11230166 Standard NM_031474 NM_031474 NA Approved DKFZP761G1913 uc001qlc.3 Q9BQI9 OTTHUMG00000130616 ENST00000337508.4:c.579-85C>T chr12.hg19:g.2937298G>A NA A2RRE3|B4DV61 hg19 CCDS8514.1 0.02 1.998645 TATxGTT COVERED NOVEL NRIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253090.4 0 4.514748 KEEP 0 0 0 15 534 GG 0.99649 0.996326 0 - 4 60 139 0 0 8.708848 86 60 3136 124 ENST00000337508.4 0.044444 0.999835 TULP3 7289 __UNKNOWN__ __UNKNOWN__ 12 3018802 3018802 __UNKNOWN__ Intron SNP G G C rs35490316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3018802G>C ENST00000397132.2 + 2 134 TULP3_ENST00000448120.2_Intron NM_001160408.1 NP_001153880.1 O75386 TULP3_HUMAN tubby like protein 3 NA NA anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCGTGATGCTGATGGTCTTGG 0.488 NA G||| 848 0.169329 0.0363 0.1599 5008 , , NA 17862 0.2083 NA 0.2038 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 G , 95,1289 5,85,602 230 183 197 , 1.3 0 12 dbSNP_126 197 685,2497 66,553,972 no intron,intron TULP3 NM_001160408.1,NM_003324.4 , 71,638,1574 CC,CG,GG 21.5273,6.8642,17.0828 , , 3018802 780,3786 692 1591 2283 SO:0001627 intron_variant AF045583 CCDS8519.1, CCDS53737.1 12p13 2014-02-21 ENSG00000078246 ENSG00000078246 7289 Intraflagellar transport homologs 12425 protein-coding gene gene with protein product 604730 NA 9828123 Standard NM_003324 NM_003324 NA Approved TUBL3 uc001qlj.2 O75386 OTTHUMG00000168152 ENST00000397132.2:c.93+56G>C chr12.hg19:g.3018802G>C NA B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0 hg19 CCDS53737.1 0.02 9.33596 GCTxATG COVERED NOVEL TULP3-004 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398469.1 3 13.845267 KEEP 0 0 0 46 1633 GG 1 1 0 + 12 60 443 0 0 29.320877 229 60 8656 344 ENST00000397132.2 0.049793 1 TULP3 7289 __UNKNOWN__ __UNKNOWN__ 12 3046802 3046802 __UNKNOWN__ Silent SNP A A G rs33973716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3046802A>G ENST00000397132.2 + 9 971 c.930A>G c.(928-930)acA>acG p.T310T TULP3_ENST00000448120.2_Silent_p.T310T NM_001160408.1 NP_001153880.1 O75386 TULP3_HUMAN tubby like protein 3 310 NA anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCCAGGAAACAAACGTACTTG 0.378 NA a||| 1108 0.221246 0.2163 0.1801 5008 , , NA 18091 0.2083 NA 0.2048 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 , 899,3505 341.8+/-306.9 91,717,1394 48 44 45 930,930 -1.2 1 12 dbSNP_126 45 1784,6816 319.9+/-314.4 168,1448,2684 no coding-synonymous,coding-synonymous TULP3 NM_001160408.1,NM_003324.4 , 259,2165,4078 GG,GA,AA 20.7442,20.4133,20.6321 , 310/502,310/443 3046802 2683,10321 2202 4300 6502 SO:0001819 synonymous_variant AF045583 CCDS8519.1, CCDS53737.1 12p13 2014-02-21 ENSG00000078246 ENSG00000078246 7289 Intraflagellar transport homologs 12425 protein-coding gene gene with protein product 604730 NA 9828123 Standard NM_003324 NM_003324 NA Approved TUBL3 uc001qlj.2 O75386 OTTHUMG00000168152 ENST00000397132.2:c.930A>G chr12.hg19:g.3046802A>G NA B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0 hg19 CCDS53737.1 0.02 4.058799 AACxAAC COVERED NOVEL TULP3-004 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398469.1 2 8.124879 KEEP 0 0 0 27 867 AA 0.999988 0.999985 0 + 6 60 212 0 0 13.8128 110 60 4024 177 ENST00000397132.2 0.051724 0.999997 TULP3 7289 __UNKNOWN__ __UNKNOWN__ 12 3048755 3048755 __UNKNOWN__ Intron SNP A A G rs11062424 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3048755A>G ENST00000397132.2 + 11 1350 TULP3_ENST00000448120.2_3'UTR NM_001160408.1 NP_001153880.1 O75386 TULP3_HUMAN tubby like protein 3 NA NA anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) ACACACACACAAAGAGCAATA 0.453 NA a||| 1403 0.280152 0.4175 0.2061 5008 , , NA 21167 0.2173 NA 0.2068 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF045583 CCDS8519.1, CCDS53737.1 12p13 2014-02-21 ENSG00000078246 ENSG00000078246 7289 Intraflagellar transport homologs 12425 protein-coding gene gene with protein product 604730 NA 9828123 Standard NM_003324 NM_003324 NA Approved TUBL3 uc001qlj.2 O75386 OTTHUMG00000168152 ENST00000397132.2:c.1309+165A>G chr12.hg19:g.3048755A>G NA B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0 hg19 CCDS53737.1 0.02 37.085123 CACxAAG COVERED NOVEL TULP3-004 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398469.1 5 16.786552 KEEP 14 7 193 124 3961 AA 1 1 0 + 55 60 1877 0 0 124.708547 823 60 29970 1191 ENST00000397132.2 0.062642 1 TULP3 7289 __UNKNOWN__ __UNKNOWN__ 12 3049698 3049698 __UNKNOWN__ Missense_Mutation SNP T T C rs998814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3049698T>C ENST00000397132.2 + 12 1353 c.1312T>C c.(1312-1314)Tgt>Cgt p.C438R TULP3_ENST00000448120.2_3'UTR NM_001160408.1 NP_001153880.1 O75386 TULP3_HUMAN tubby like protein 3 0 NA anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CTTCCCAGAATGTATCCAAAC 0.498 NA C||| 1389 0.277356 0.4085 0.2046 5008 , , NA 20215 0.2183 NA 0.2058 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 C ,ARG/CYS 517,867 96,325,271 49 44 46 ,1312 -0.3 0 12 dbSNP_86 46 691,2491 69,553,969 yes utr-3,missense TULP3 NM_003324.4,NM_001160408.1 ,180 165,878,1240 CC,CT,TT 21.7159,37.3555,26.4564 ,benign ,438/502 3049698 1208,3358 692 1591 2283 SO:0001583 missense AF045583 CCDS8519.1, CCDS53737.1 12p13 2014-02-21 ENSG00000078246 ENSG00000078246 7289 Intraflagellar transport homologs 12425 protein-coding gene gene with protein product 604730 NA 9828123 Standard NM_003324 NM_003324 NA Approved TUBL3 uc001qlj.2 O75386 OTTHUMG00000168152 ENST00000397132.2:c.1312T>C chr12.hg19:g.3049698T>C ENSP00000380321:p.Cys438Arg NA B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0 hg19 CCDS53737.1 0.02 20.264717 GAAxGTA COVERED 537 0.24587912087912087 186 0.3780487804878049 75 0.20718232044198895 110 0.19230769230769232 166 0.21899736147757257 C 0.107 -1.143619 0.01728 0.373555 0.217159 ENSG00000078246 ENST00000397132 D 0.91351 -2.83 3.48 -0.313 0.12754 . . . . . T 0.00012 0.0000 N 0.04090 -0.28 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.10314 -1.0635 8 0.46703 T 0.11 . 4.1363 0.10172 0.0:0.2335:0.1803:0.5862 rs998814;rs3210448;rs998814 438 F8WBZ9 . R 438 ENSP00000380321:C438R ENSP00000380321:C438R C + 1 0 TULP3 2919959 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.057000 0.03486 -0.212000 0.10109 -1.259000 0.01468 TGT NOVEL TULP3-004 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398469.1 1 21.662689 KEEP 0 0 0 72 2234 TT 1 1 0 + 26 60 932 0 0 61.61886 467 60 17262 690 ENST00000397132.2 0.052738 1 TULP3 7289 __UNKNOWN__ __UNKNOWN__ 12 3049938 3049938 __UNKNOWN__ 3'UTR SNP C C T rs1047341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3049938C>T ENST00000397132.2 + 0 1593 TULP3_ENST00000448120.2_3'UTR NM_001160408.1 NP_001153880.1 O75386 TULP3_HUMAN tubby like protein 3 NA NA anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831) axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372) enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403) endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TGTCCCCCACCGACAAGTCCC 0.592 NA C||| 1057 0.211062 0.1831 0.1758 5008 , , NA 17307 0.2083 NA 0.2058 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 C , 274,1110 25,224,443 40 39 39 , -2.9 0 12 dbSNP_86 39 689,2493 67,555,969 no utr-3,utr-3 TULP3 NM_001160408.1,NM_003324.4 , 92,779,1412 TT,TC,CC 21.653,19.7977,21.0907 , , 3049938 963,3603 692 1591 2283 SO:0001624 3_prime_UTR_variant AF045583 CCDS8519.1, CCDS53737.1 12p13 2014-02-21 ENSG00000078246 ENSG00000078246 7289 Intraflagellar transport homologs 12425 protein-coding gene gene with protein product 604730 NA 9828123 Standard NM_003324 NM_003324 NA Approved TUBL3 uc001qlj.2 O75386 OTTHUMG00000168152 ENST00000397132.2:c.*46C>T chr12.hg19:g.3049938C>T NA B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0 hg19 CCDS53737.1 0.02 15.33253 CACxGAC COVERED NOVEL TULP3-004 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398469.1 1 17.453658 KEEP 0 0 0 58 1901 CC 1 1 0 + 23 60 820 0 0 55.775734 340 60 11324 473 ENST00000397132.2 0.063361 1 TSPAN9 10867 __UNKNOWN__ __UNKNOWN__ 12 3392625 3392625 __UNKNOWN__ 3'UTR SNP A A G rs60177044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3392625A>G ENST00000011898.5 + 0 1224 TSPAN9_ENST00000537971.1_3'UTR NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 NA NA focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197) endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) TTGTCCCCACATGGGGTGGGG 0.701 NA A||| 786 0.156949 0.2095 0.1326 5008 , , NA 11591 0.373 NA 0.004 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF089749 CCDS8520.1 12p13.33-p13.32 2013-02-14 ENSG00000011105 ENSG00000011105 10867 Tetraspanins 21640 protein-coding gene gene with protein product 613137 NA 10719184, 11739647 Standard NM_006675 NM_006675 NA Approved NET-5 uc021qtd.1 O75954 OTTHUMG00000150333 ENST00000011898.5:c.*343A>G chr12.hg19:g.3392625A>G NA D3DUQ7|Q53FV2|Q6FGJ8 hg19 CCDS8520.1 0.02 6.449416 CACxTGG COVERED NOVEL TSPAN9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317606.2 0 16.54739 KEEP 0 0 0 55 1666 AA 1 1 0 + 13 60 457 0 0 31.51164 171 60 6049 300 ENST00000011898.5 0.070652 1 EFCAB4B 0 __UNKNOWN__ __UNKNOWN__ 12 3736745 3736745 __UNKNOWN__ Intron SNP T T C rs10848894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:3736745T>C ENST00000440314.2 - 17 2291 NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN NA NA activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) calcium ion binding (GO:0005509) breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) GGGTCAGGCATGCACGGCCTT 0.597 NA C||| 3489 0.696685 0.8064 0.7334 5008 , , NA 18456 0.6329 NA 0.659 False NA ,,, NA NA NA 2504 0.6268 NA NA NA NA 0 C 1074,310 423,228,41 72 71 71 -6.3 0 12 dbSNP_120 71 2017,1165 644,729,218 no intron EFCAB4B NM_001144958.1 1067,957,259 CC,CT,TT 36.6122,22.3988,32.304 3736745 3091,1475 692 1591 2283 SO:0001627 intron_variant NA NA NA NA ENST00000440314.2:c.1818-29A>G chr12.hg19:g.3736745T>C NA B4E1X0|B9EK63 hg19 CCDS44803.1 0.02 13.355763 GCAxGCA COVERED NOVEL EFCAB4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398640.2 0 19.043147 KEEP 0 1 7 66 2012 TT 1 1 0 - 17 60 574 0 0 36.811605 299 60 10813 450 ENST00000440314.2 0.053797 1 C12orf5 57103 __UNKNOWN__ __UNKNOWN__ 12 4430561 4430561 __UNKNOWN__ Intron SNP C C G rs11063080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4430561C>G ENST00000179259.4 + 1 99 NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 NA NA intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410) intracellular (GO:0005622) fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331) endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) ACCCTCTCCCCTCCCTGCTCG 0.647 NA C||| 1452 0.289936 0.3048 0.3703 5008 , , NA 14645 0.249 NA 0.3151 False NA ,,, NA NA NA 2504 0.229 NA NA NA Colon(1;100 192 35375 49454 52532) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ272206 CCDS8525.1 12p13.32 2014-05-29 2009-11-24 2009-11-24 ENSG00000078237 ENSG00000078237 57103 3.1.3.46 1185 protein-coding gene gene with protein product TP53-induced glycolysis and apoptosis regulator 610775 NA 16140933, 16839880, 18945750, 19713938 Standard NM_020375 NM_020375 NA Approved TIGAR uc001qmp.3 Q9NQ88 ENST00000179259.4:c.32+92C>G chr12.hg19:g.4430561C>G NA B2R840 hg19 CCDS8525.1 0.02 9.139513 CCCxTCC COVERED NOVEL C12orf5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398290.1 1 21.971111 KEEP 0 0 0 73 2611 CC 1 1 0 + 18 60 610 0 0 42.773974 200 60 7509 340 ENST00000179259.4 0.082569 1 C12orf5 57103 __UNKNOWN__ __UNKNOWN__ 12 4459032 4459032 __UNKNOWN__ Silent SNP G G A rs7309402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4459032G>A ENST00000179259.4 + 4 307 c.240G>A c.(238-240)acG>acA p.T80T C12orf5_ENST00000537251.1_3'UTR NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 80 NA intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410) intracellular (GO:0005622) fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331) endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) AAGATATGACGGTAAAGTATG 0.353 NA G||| 1369 0.273363 0.3109 0.2435 5008 , , NA 19888 0.5109 NA 0.0984 False NA ,,, NA NA NA 2504 0.1789 NA NA NA Colon(1;100 192 35375 49454 52532) NA 0 G 1288,3118 438.8+/-345.5 192,904,1107 98 101 100 240 -1 0.9 12 dbSNP_116 100 651,7949 166.2+/-218.2 27,597,3676 no coding-synonymous C12orf5 NM_020375.2 219,1501,4783 AA,AG,GG 7.5698,29.2329,14.9085 80/271 4459032 1939,11067 2203 4300 6503 SO:0001819 synonymous_variant AJ272206 CCDS8525.1 12p13.32 2014-05-29 2009-11-24 2009-11-24 ENSG00000078237 ENSG00000078237 57103 3.1.3.46 1185 protein-coding gene gene with protein product TP53-induced glycolysis and apoptosis regulator 610775 NA 16140933, 16839880, 18945750, 19713938 Standard NM_020375 NM_020375 NA Approved TIGAR uc001qmp.3 Q9NQ88 ENST00000179259.4:c.240G>A chr12.hg19:g.4459032G>A NA B2R840 hg19 CCDS8525.1 0.02 9.065175 GACxGTA COVERED NOVEL C12orf5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398290.1 1 9.6288 KEEP 0 0 0 32 1073 GG 0.999997 0.999997 0 + 9 60 322 0 0 20.305305 206 60 6989 306 ENST00000179259.4 0.04186 1 C12orf5 57103 __UNKNOWN__ __UNKNOWN__ 12 4462146 4462146 __UNKNOWN__ 3'UTR SNP G G A rs1046164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4462146G>A ENST00000179259.4 + 0 1169 NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 NA NA intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410) intracellular (GO:0005622) fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331) endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) TGGGGGATTAGTAACCTTGTT 0.368 NA G||| 1168 0.233227 0.2088 0.1744 5008 , , NA 18644 0.2401 NA 0.2296 False NA ,,, NA NA NA 2504 0.3047 NA NA NA Colon(1;100 192 35375 49454 52532) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ272206 CCDS8525.1 12p13.32 2014-05-29 2009-11-24 2009-11-24 ENSG00000078237 ENSG00000078237 57103 3.1.3.46 1185 protein-coding gene gene with protein product TP53-induced glycolysis and apoptosis regulator 610775 NA 16140933, 16839880, 18945750, 19713938 Standard NM_020375 NM_020375 NA Approved TIGAR uc001qmp.3 Q9NQ88 ENST00000179259.4:c.*289G>A chr12.hg19:g.4462146G>A NA B2R840 hg19 CCDS8525.1 0.02 8.31118 TTAxTAA COVERED NOVEL C12orf5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398290.1 2 7.223765 KEEP 0 0 0 24 865 GG 0.999909 0.999909 0 + 8 60 293 0 0 17.848818 235 60 8938 333 ENST00000179259.4 0.032922 1 C12orf5 57103 __UNKNOWN__ __UNKNOWN__ 12 4462161 4462161 __UNKNOWN__ 3'UTR SNP C C T rs1046165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4462161C>T ENST00000179259.4 + 0 1184 NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 NA NA intestinal epithelial cell development (GO:0060576)|negative regulation of macromitophagy (GO:1901525)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|response to gamma radiation (GO:0010332)|response to xenobiotic stimulus (GO:0009410) intracellular (GO:0005622) fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331) endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) CTTGTTACAACGGTTTCTTTT 0.348 NA C||| 1431 0.285743 0.1936 0.2695 5008 , , NA 18328 0.5188 NA 0.1789 False NA ,,, NA NA NA 2504 0.2914 NA NA NA Colon(1;100 192 35375 49454 52532) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ272206 CCDS8525.1 12p13.32 2014-05-29 2009-11-24 2009-11-24 ENSG00000078237 ENSG00000078237 57103 3.1.3.46 1185 protein-coding gene gene with protein product TP53-induced glycolysis and apoptosis regulator 610775 NA 16140933, 16839880, 18945750, 19713938 Standard NM_020375 NM_020375 NA Approved TIGAR uc001qmp.3 Q9NQ88 ENST00000179259.4:c.*304C>T chr12.hg19:g.4462161C>T NA B2R840 hg19 CCDS8525.1 0.02 8.134921 CAAxGGT COVERED NOVEL C12orf5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398290.1 2 7.223469 KEEP 0 0 0 24 836 CC 0.999909 0.999909 0 + 7 60 249 0 0 14.641374 223 60 7770 314 ENST00000179259.4 0.030435 1 DYRK4 8798 __UNKNOWN__ __UNKNOWN__ 12 4677255 4677255 __UNKNOWN__ Intron SNP T T C rs2240766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4677255T>C ENST00000539490.1 + 1 94 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 NA NA cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) AGAGGTATCATTGCGAGGTCC 0.493 NA T||| 2119 0.423123 0.5537 0.5288 5008 , , NA 20103 0.2698 NA 0.4901 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y09305 CCDS8530.1 12p13.32 2014-09-11 ENSG00000010219 ENSG00000010219 8798 3095 protein-coding gene gene with protein product 609181 NA 9748265 Standard NM_003845 NA Approved uc001qmx.3 Q9NR20 OTTHUMG00000168204 ENST00000539490.1:c.94+41T>C chr12.hg19:g.4677255T>C NA A8K8F7|Q8NEF2|Q92631 hg19 0.02 4.667532 TCAxTGC COVERED NOVEL DYRK4-010 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000398779.1 2 5.717095 KEEP 0 0 0 19 608 TT 0.99986 0.99986 0 + 7 60 263 0 0 17.382951 142 60 5080 181 ENST00000539490.1 0.04698 1 AKAP3 10566 __UNKNOWN__ __UNKNOWN__ 12 4745170 4745170 __UNKNOWN__ Intron SNP G G A rs76810345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4745170G>A ENST00000545990.2 - 4 621 AKAP3_ENST00000228850.1_Intron|RP11-500M8.7_ENST00000536588.1_Intron NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 NA NA acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178) acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228) protein kinase A binding (GO:0051018) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 tacCCCAATGGTACTCTCTTG 0.403 NA G||| 283 0.0565096 0.0408 0.0101 5008 , , NA 18948 0.0853 NA 0.003 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U85715 CCDS8531.1 12p13.3 2009-03-12 ENSG00000111254 10566 A-kinase anchor proteins 373 protein-coding gene gene with protein product Fibrous Sheath Protein of 95 kDa, cancer/testis antigen 82 604689 NA 10334916, 10319321 Standard NM_006422 NM_001278309 NA Approved FSP95, SOB1, AKAP110, CT82 uc001qnb.4 O75969 ENST00000545990.2:c.96+2096C>T chr12.hg19:g.4745170G>A NA O75945|Q86X01|Q9UM61 hg19 CCDS8531.1 0.02 4.160437 ATGxTAC COVERED NOVEL AKAP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398911.2 0 5.116783 KEEP 0 0 0 17 611 GG 0.999366 0.999366 0 - 5 60 186 0 0 11.47103 145 60 5301 211 ENST00000545990.2 0.033333 1 KCNA6 3742 __UNKNOWN__ __UNKNOWN__ 12 4918436 4918436 __UNKNOWN__ 5'UTR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:4918436T>G ENST00000280684.3 + 0 95 KCNA6_ENST00000433855.1_5'UTR P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 Dalfampridine(DB06637) GGGAGTGGGGTGGGAGGGGGC 0.687 NA HNSCC(72;0.22) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X17622 CCDS8534.1 12p13 2014-06-12 3742 Potassium channels, Voltage-gated ion channels / Potassium channels 6225 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 96 176257 NA 16382104 Standard NM_002235 NM_002235 NA Approved Kv1.6, HBK2, PPP1R96 uc001qng.3 P17658 ENST00000280684.3:c.-772T>G chr12.hg19:g.4918436T>G NA hg19 CCDS8534.1 0.02 1.178813 GGGxGGG COVERED NOVEL KCNA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398909.1 0 3.304771 KEEP 0 0 0 11 287 TT 0.993072 0.993012 0 + 22 60 231 0 0 11.61466 73 60 1868 137 ENST00000280684.3 0.231579 0.99994 ANO2 57101 __UNKNOWN__ __UNKNOWN__ 12 5848953 5848953 __UNKNOWN__ Intron SNP C C T rs17195410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:5848953C>T ENST00000356134.5 - 14 1414 ANO2_ENST00000546188.1_Intron|ANO2_ENST00000327087.8_Intron|ANO2_ENST00000538154.1_Intron NM_001278596.1 NP_001265525.1 Q9NQ90 ANO2_HUMAN anoctamin 2, calcium activated chloride channel NA NA chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886) intracellular calcium activated chloride channel activity (GO:0005229) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CCTCCTTCACCTTCATCAGCA 0.443 NA C||| 635 0.126797 0.0749 0.1686 5008 , , NA 19034 0.1438 NA 0.1163 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ272204 CCDS44807.1, CCDS44807.2 12p13.3 2014-04-09 2014-04-09 2008-08-28 ENSG00000047617 57101 Ion channels / Chloride channels : Calcium activated : Anoctamins 1183 protein-coding gene gene with protein product transmembrane protein 16B (eight membrane-spanning domains) 610109 chromosome 12 open reading frame 3, transmembrane protein 16B, anoctamin 2 C12orf3, TMEM16B NA 12739008, 15067359, 24692353 Standard NM_020373 NM_001278596 NA Approved uc001qnm.2 Q9NQ90 ENST00000356134.5:c.1343-388G>A chr12.hg19:g.5848953C>T NA C4N787|Q9H847 hg19 0.02 6.123436 CACxTTC COVERED NOVEL ANO2-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000399019.4 0 3.009626 KEEP 0 0 0 10 335 CC 0.992708 0.992708 0 - 6 60 224 0 0 13.741799 181 60 6535 200 ENST00000356134.5 0.032086 1 SCNN1A 6337 __UNKNOWN__ __UNKNOWN__ 12 6483851 6483851 __UNKNOWN__ Silent SNP G G A rs13306619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6483851G>A ENST00000543768.1 - 2 260 c.168C>T c.(166-168)ccC>ccT p.P56P SCNN1A_ENST00000228916.2_Silent_p.P33P|SCNN1A_ENST00000396966.2_Silent_p.P33P|SCNN1A_ENST00000358945.3_Silent_p.P33P|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Silent_p.P92P NM_001159575.1 NP_001153047.1 P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 33 NA excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706) ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CCGCAGGTTCGGGGCCCAGCC 0.637 NA G||| 191 0.038139 0.025 0.0043 5008 , , NA 16413 0.0923 NA 0.002 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 G ,, 87,4319 72.0+/-110.0 1,85,2117 39 38 39 99,168,276 -3.8 0 12 dbSNP_121 39 5,8595 3.7+/-12.6 0,5,4295 no coding-synonymous,coding-synonymous,coding-synonymous SCNN1A NM_001038.5,NM_001159575.1,NM_001159576.1 ,, 1,90,6412 AA,AG,GG 0.0581,1.9746,0.7074 ,, 33/670,56/693,92/729 6483851 92,12914 2203 4300 6503 SO:0001819 synonymous_variant Z92978 CCDS8543.1, CCDS53738.1, CCDS53739.1 12p13 2012-02-28 2012-02-28 ENSG00000111319 ENSG00000111319 6337 Ion channels / Sodium channel, nonvoltage-gated, Sodium channels 10599 protein-coding gene gene with protein product 600228 sodium channel, nonvoltage-gated 1 alpha, sodium channel, non-voltage-gated 1 alpha SCNN1 NA 7896277 Standard NM_001038 NA Approved ENaCalpha uc001qnw.3 P37088 OTTHUMG00000168268 ENST00000543768.1:c.168C>T chr12.hg19:g.6483851G>A NA A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64 hg19 CCDS53739.1 0.02 10.730519 TTCxGGG COVERED NOVEL SCNN1A-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000399058.1 1 22.102831 KEEP 0 1 33 85 2871 GG 1 1 0 - 9 60 335 0 0 20.597882 266 60 8737 417 ENST00000543768.1 0.032727 1 SCNN1A 6337 __UNKNOWN__ __UNKNOWN__ 12 6484666 6484666 __UNKNOWN__ Intron SNP C C G rs13306617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6484666C>G ENST00000543768.1 - 2 108 LTBR_ENST00000539925.1_5'UTR|SCNN1A_ENST00000228916.2_Intron|LTBR_ENST00000546296.1_3'UTR NM_001159575.1 NP_001153047.1 P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit NA NA excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706) ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) TCTCCTCCCCCTCACCTGACA 0.622 NA C||| 284 0.0567093 0.0567 0.0173 5008 , , NA 12470 0.1359 NA 0.003 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z92978 CCDS8543.1, CCDS53738.1, CCDS53739.1 12p13 2012-02-28 2012-02-28 ENSG00000111319 ENSG00000111319 6337 Ion channels / Sodium channel, nonvoltage-gated, Sodium channels 10599 protein-coding gene gene with protein product 600228 sodium channel, nonvoltage-gated 1 alpha, sodium channel, non-voltage-gated 1 alpha SCNN1 NA 7896277 Standard NM_001038 NA Approved ENaCalpha uc001qnw.3 P37088 OTTHUMG00000168268 ENST00000543768.1:c.16-663G>C chr12.hg19:g.6484666C>G NA A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64 hg19 CCDS53739.1 0.02 9.057906 CCCxTCA COVERED NOVEL SCNN1A-003 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000399058.1 3 60.794057 KEEP 0 0 0 202 7005 CC 1 1 0 - 10 60 318 0 0 18.199358 250 60 9035 628 ENST00000543768.1 0.038462 1 LTBR 4055 __UNKNOWN__ __UNKNOWN__ 12 6495275 6495275 __UNKNOWN__ Intron SNP C C A rs2364480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6495275C>A ENST00000543190.1 + 5 578 LTBR_ENST00000539925.1_Silent_p.A153A|LTBR_ENST00000541102.1_Silent_p.A65A|LTBR_ENST00000228918.4_Silent_p.A172A P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) NA NA apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021) identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625) breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CCTGCAAGGCCGGGCACTTCC 0.627 NA A||| 4248 0.848243 0.9713 0.7954 5008 , , NA 13851 0.873 NA 0.7346 False NA ,,, NA NA NA 2504 0.8108 NA NA NA NA 0 A 4114,292 160.0+/-192.4 1925,264,14 92 104 100 516 -6.2 0.2 12 dbSNP_100 100 6345,2255 381.7+/-340.1 2368,1609,323 no coding-synonymous LTBR NM_002342.1 4293,1873,337 AA,AC,CC 26.2209,6.6273,19.5833 172/436 6495275 10459,2547 2203 4300 6503 SO:0001627 intron_variant L04270 CCDS8544.1, CCDS59233.1 12p13 2013-05-22 ENSG00000111321 4055 Tumor necrosis factor receptor superfamily 6718 protein-coding gene gene with protein product 600979 D12S370 NA 8171323, 8486360 Standard NM_002342 NA Approved TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3 uc001qny.2 P36941 ENST00000543190.1:c.152-238C>A chr12.hg19:g.6495275C>A NA B7Z1D2|D3DUR2|F5GXE7 hg19 0.02 5.939345 GGCxGGG COVERED NOVEL LTBR-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399425.1 1 24.143518 KEEP 0 2 56 100 3439 CC 1 1 0 + 6 60 207 0 0 12.241166 168 60 5613 366 ENST00000543190.1 0.034483 1 LTBR 4055 __UNKNOWN__ __UNKNOWN__ 12 6500105 6500105 __UNKNOWN__ 3'UTR SNP T T G rs12354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6500105T>G ENST00000228918.4 + 0 1636 LTBR_ENST00000539925.1_3'UTR|LTBR_ENST00000541102.1_3'UTR NM_002342.2 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) NA NA apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021) identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625) breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CATGACTGACTGAGTCTGAGA 0.597 NA G||| 4222 0.843051 0.9856 0.7839 5008 , , NA 16965 0.8681 NA 0.7117 False NA ,,, NA NA NA 2504 0.8016 NA NA NA NA 0 G 4157,249 142.7+/-177.9 1965,227,11 77 86 83 -3.3 0 12 dbSNP_52 83 6090,2510 406.8+/-348.9 2182,1726,392 no utr-3 LTBR NM_002342.1 4147,1953,403 GG,GT,TT 29.186,5.6514,21.2133 6500105 10247,2759 2203 4300 6503 SO:0001624 3_prime_UTR_variant L04270 CCDS8544.1, CCDS59233.1 12p13 2013-05-22 ENSG00000111321 4055 Tumor necrosis factor receptor superfamily 6718 protein-coding gene gene with protein product 600979 D12S370 NA 8171323, 8486360 Standard NM_002342 NA Approved TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3 uc001qny.2 P36941 ENST00000228918.4:c.*2T>G chr12.hg19:g.6500105T>G NA B7Z1D2|D3DUR2|F5GXE7 hg19 CCDS8544.1 0.02 12.798644 GACxGAG COVERED NOVEL LTBR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399422.1 2 5.016842 KEEP 0 3 95 50 1558 TT 1 1 0 + 15 60 513 0 0 31.909816 319 60 11724 454 ENST00000228918.4 0.04491 1 NCAPD2 9918 __UNKNOWN__ __UNKNOWN__ 12 6604418 6604418 __UNKNOWN__ Intron SNP C C T rs6489718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6604418C>T ENST00000315579.5 + 2 926 NCAPD2_ENST00000545962.1_Intron NM_014865.3 NP_055680.3 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 NA NA mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120) histone binding (GO:0042393) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 GTCACTGTACCTAGCTCTTTC 0.428 NA C||| 1636 0.326677 0.475 0.4164 5008 , , NA 23212 0.2044 NA 0.3072 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 C 2097,2309 567.8+/-382.2 505,1087,611 136 110 119 -1.8 0 12 dbSNP_116 119 2481,6119 401.9+/-347.3 362,1757,2181 no intron NCAPD2 NM_014865.3 867,2844,2792 TT,TC,CC 28.8488,47.5942,35.1991 6604418 4578,8428 2203 4300 6503 SO:0001627 intron_variant D63880 CCDS8548.1 12p13.31 2008-02-04 ENSG00000010292 ENSG00000010292 9918 24305 protein-coding gene gene with protein product chromosome condensation related SMC associated protein 1 615638 NA 8590280, 10958694 Standard NM_014865 NM_014865 NA Approved CNAP1, hCAP-D2, CAP-D2, KIAA0159 uc001qoo.2 Q15021 OTTHUMG00000168513 ENST00000315579.5:c.127+27C>T chr12.hg19:g.6604418C>T NA D3DUR4|Q8N6U3 hg19 CCDS8548.1 0.02 9.390609 TACxTAG COVERED NOVEL NCAPD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399964.1 3 17.757651 KEEP 0 0 0 59 2094 CC 1 1 0 + 7 60 268 0 0 16.787028 205 60 7726 318 ENST00000315579.5 0.033019 1 MLF2 8079 __UNKNOWN__ __UNKNOWN__ 12 6861043 6861043 __UNKNOWN__ Intron SNP T T C rs2302367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6861043T>C ENST00000203630.5 - 3 825 MLF2_ENST00000542154.1_Intron|MLF2_ENST00000435120.1_Intron|MLF2_ENST00000539187.1_Intron Q15773 MLF2_HUMAN myeloid leukemia factor 2 NA NA defense response (GO:0006952) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) kidney(2)|large_intestine(3)|lung(4) 9 CTTTCCTAACTAACCTCCAAC 0.512 NA C||| 2898 0.578674 0.8464 0.4971 5008 , , NA 22494 0.5813 NA 0.4871 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 C 3555,851 330.4+/-301.5 1452,651,100 52 55 54 0.2 0 12 dbSNP_100 54 4148,4452 581.1+/-391.2 980,2188,1132 no intron MLF2 NM_005439.2 2432,2839,1232 CC,CT,TT 48.2326,19.3146,40.7735 6861043 7703,5303 2203 4300 6503 SO:0001627 intron_variant U57342 CCDS8559.1 12p13.31 2014-09-11 ENSG00000089693 ENSG00000089693 8079 7126 protein-coding gene gene with protein product 601401 NA 8661158 Standard NM_005439 NA Approved NTN4 uc010sfi.2 Q15773 OTTHUMG00000168717 ENST00000203630.5:c.180+47A>G chr12.hg19:g.6861043T>C NA hg19 CCDS8559.1 0.02 9.414842 AACxAAC COVERED NOVEL MLF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400733.2 0 28.51989 KEEP 0 1 35 107 3325 TT 1 1 0 - 11 60 413 0 0 27.327867 221 60 8042 432 ENST00000203630.5 0.047414 1 PTMS 5763 __UNKNOWN__ __UNKNOWN__ 12 6879279 6879279 __UNKNOWN__ Intron SNP A A G rs4764621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6879279A>G ENST00000309083.6 + 4 525 PTMS_ENST00000389462.4_Intron|PTMS_ENST00000538057.1_Intron NM_002824.4 NP_002815.3 P20962 PTMS_HUMAN parathymosin NA NA DNA replication (GO:0006260)|immune system process (GO:0002376) nucleus (GO:0005634) endometrium(2)|large_intestine(2)|liver(1) 5 GGGCTCTGCCAGAGCTTCCTG 0.602 NA G||| 2717 0.542532 0.82 0.4294 5008 , , NA 15353 0.5903 NA 0.3946 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 G 3372,1034 365.4+/-317.4 1289,794,120 25 25 25 -0.8 0 12 dbSNP_111 25 3616,4984 611.4+/-395.8 752,2112,1436 no intron PTMS NM_002824.4 2041,2906,1556 GG,GA,AA 42.0465,23.468,46.271 6879279 6988,6018 2203 4300 6503 SO:0001627 intron_variant CCDS8560.1 12p13 2008-07-10 ENSG00000159335 5763 9629 protein-coding gene gene with protein product 168440 NA 15716277 Standard NM_002824 NA Approved ParaT uc001qqq.3 P20962 ENST00000309083.6:c.197-44A>G chr12.hg19:g.6879279A>G NA hg19 CCDS8560.1 0.02 11.357123 GCCxGAG COVERED NOVEL PTMS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402841.1 1 34.497068 KEEP 0 3 98 149 4629 AA 1 1 0 + 12 60 419 0 0 26.074464 271 60 10000 559 ENST00000309083.6 0.042403 1 LAG3 3902 __UNKNOWN__ __UNKNOWN__ 12 6883690 6883690 __UNKNOWN__ Intron SNP G G A rs869222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6883690G>A ENST00000203629.2 + 4 844 LAG3_ENST00000441671.2_Intron NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 NA NA cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021) antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AGGAGCTTCCGGCTTGGCAGC 0.547 NA g||| 441 0.0880591 0.1921 0.0331 5008 , , NA 15985 0.1349 NA 0.003 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8561.1 12p13.3 2013-01-11 ENSG00000089692 ENSG00000089692 3902 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6476 protein-coding gene gene with protein product 153337 NA Standard NM_002286 NA Approved CD223 uc001qqt.4 P18627 OTTHUMG00000169197 ENST00000203629.2:c.512-71G>A chr12.hg19:g.6883690G>A NA A8K7T9|Q7Z643 hg19 CCDS8561.1 0.02 4.589945 TCCxGCT COVERED NOVEL LAG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402846.1 1 13.540592 KEEP 0 0 0 45 1455 GG 1 0.999968 0 + 5 60 182 0 0 11.947348 96 60 3066 163 ENST00000203629.2 0.049505 0.999968 CD4 920 __UNKNOWN__ __UNKNOWN__ 12 6928905 6928905 __UNKNOWN__ 3'UTR SNP A A G rs3213428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6928905A>G ENST00000011653.4 + 0 2045 NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032) early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) Antithymocyte globulin(DB00098) gagggcaggaacttgcacaaa 0.582 NA A||| 1532 0.305911 0.2995 0.2104 5008 , , NA -128 0.4742 NA 0.1561 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M35160 CCDS8562.1 12p13.31 2013-01-11 2006-03-28 ENSG00000010610 ENSG00000010610 920 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 1678 protein-coding gene gene with protein product 186940 CD4 antigen (p55), T-cell surface glycoprotein CD4 NA Standard NM_000616 NM_000616 NA Approved uc001qqv.2 P01730 OTTHUMG00000168514 ENST00000011653.4:c.*410A>G chr12.hg19:g.6928905A>G NA B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5 hg19 CCDS8562.1 0.02 15.636914 GGAxCTT COVERED NOVEL CD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399978.1 4 25.275114 KEEP 0 0 0 84 2649 AA 1 1 0 + 11 60 404 0 0 24.432948 339 60 11612 550 ENST00000011653.4 0.031429 1 CD4 920 __UNKNOWN__ __UNKNOWN__ 12 6929513 6929513 __UNKNOWN__ 3'UTR SNP C C T rs7901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6929513C>T ENST00000011653.4 + 0 2653 NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032) early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) Antithymocyte globulin(DB00098) CTAATCAGAGCGCAAGCTGGG 0.572 NA T||| 1485 0.296526 0.2693 0.2075 5008 , , NA -128 0.4722 NA 0.1551 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M35160 CCDS8562.1 12p13.31 2013-01-11 2006-03-28 ENSG00000010610 ENSG00000010610 920 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 1678 protein-coding gene gene with protein product 186940 CD4 antigen (p55), T-cell surface glycoprotein CD4 NA Standard NM_000616 NM_000616 NA Approved uc001qqv.2 P01730 OTTHUMG00000168514 ENST00000011653.4:c.*1018C>T chr12.hg19:g.6929513C>T NA B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5 hg19 CCDS8562.1 0.02 5.847148 GAGxGCA COVERED NOVEL CD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399978.1 3 14.145832 KEEP 0 0 0 47 1654 CC 1 1 0 + 6 60 218 0 0 13.022364 190 60 6526 301 ENST00000011653.4 0.030612 1 CD4 920 __UNKNOWN__ __UNKNOWN__ 12 6929637 6929637 __UNKNOWN__ 3'UTR SNP T T C rs1045261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6929637T>C ENST00000011653.4 + 0 2777 NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032) early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101) coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) Antithymocyte globulin(DB00098) GGGAACCCTCTAAGGGACCTC 0.582 NA T||| 1486 0.296725 0.2693 0.2075 5008 , , NA -128 0.4732 NA 0.1541 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M35160 CCDS8562.1 12p13.31 2013-01-11 2006-03-28 ENSG00000010610 ENSG00000010610 920 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing 1678 protein-coding gene gene with protein product 186940 CD4 antigen (p55), T-cell surface glycoprotein CD4 NA Standard NM_000616 NM_000616 NA Approved uc001qqv.2 P01730 OTTHUMG00000168514 ENST00000011653.4:c.*1142T>C chr12.hg19:g.6929637T>C NA B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5 hg19 CCDS8562.1 0.02 9.702177 CTCxAAG COVERED NOVEL CD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399978.1 1 14.139841 KEEP 0 0 0 47 1409 TT 1 1 0 + 10 60 380 0 0 25.06961 212 60 7721 305 ENST00000011653.4 0.045045 1 GPR162 27239 __UNKNOWN__ __UNKNOWN__ 12 6933223 6933223 __UNKNOWN__ 3'UTR SNP C C T rs11575110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6933223C>T ENST00000541431.1 + 0 417 GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000311268.3_Silent_p.C53C Q16538 GP162_HUMAN G protein-coupled receptor 162 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 TGCTGCTCTGCTTCCTAGCGG 0.622 NA C||| 733 0.146366 0.2057 0.0807 5008 , , NA -128 0.2381 NA 0.0815 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 C , 877,3529 339.4+/-305.8 105,667,1431 63 52 56 ,159 3.4 1 12 dbSNP_120 56 761,7839 180.9+/-229.7 34,693,3573 no intron,coding-synonymous GPR162 NM_014449.1,NM_019858.1 , 139,1360,5004 TT,TC,CC 8.8488,19.9047,12.5942 , ,53/589 6933223 1638,11368 2203 4300 6503 SO:0001624 3_prime_UTR_variant U47928, U47929, U47924, U47925 CCDS8563.1, CCDS44819.1 12p13 2012-08-21 27239 GPCR / Class A : Orphans 16693 protein-coding gene gene with protein product NA 15777626 Standard NM_019858 NM_014449 NA Approved A-2, GRCA uc001qqw.1 Q16538 ENST00000541431.1:c.*414C>T chr12.hg19:g.6933223C>T NA Q16664|Q59EH5|Q66K56 hg19 0.02 17.791268 CTGxTTC COVERED NOVEL GPR162-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000399481.1 2 42.137275 KEEP 0 0 0 140 5055 CC 1 1 0 + 17 60 589 0 0 35.53716 439 60 16461 722 ENST00000541431.1 0.037281 1 GPR162 27239 __UNKNOWN__ __UNKNOWN__ 12 6933787 6933787 __UNKNOWN__ Intron SNP A A G rs1051409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6933787A>G ENST00000428545.2 + 2 493 GPR162_ENST00000382315.3_Intron|GPR162_ENST00000311268.3_Silent_p.V241V NM_014449.1 NP_055264.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CTTTTGAGGTACCAGCCATTG 0.692 NA G||| 2451 0.489417 0.5734 0.5144 5008 , , NA -128 0.5675 NA 0.4563 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 G , 2427,1979 556.5+/-379.5 679,1069,455 49 51 50 ,723 2.5 1 12 dbSNP_86 50 3933,4667 602.4+/-394.5 912,2109,1279 no intron,coding-synonymous GPR162 NM_014449.1,NM_019858.1 , 1591,3178,1734 GG,GA,AA 45.7326,44.916,48.9005 , ,241/589 6933787 6360,6646 2203 4300 6503 SO:0001627 intron_variant U47928, U47929, U47924, U47925 CCDS8563.1, CCDS44819.1 12p13 2012-08-21 27239 GPCR / Class A : Orphans 16693 protein-coding gene gene with protein product NA 15777626 Standard NM_019858 NM_014449 NA Approved A-2, GRCA uc001qqw.1 Q16538 ENST00000428545.2:c.15+858A>G chr12.hg19:g.6933787A>G NA Q16664|Q59EH5|Q66K56 hg19 CCDS44819.1 0.02 18.117621 GGTxCCA COVERED NOVEL GPR162-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000399480.1 2 50.779728 KEEP 0 0 0 169 4972 AA 1 1 0 + 14 60 506 0 0 30.757639 429 60 14341 765 ENST00000428545.2 0.031603 1 GNB3 2784 __UNKNOWN__ __UNKNOWN__ 12 6954624 6954624 __UNKNOWN__ Intron SNP G G A rs2301339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6954624G>A ENST00000229264.3 + 10 1104 GNB3_ENST00000435982.2_Intron|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 CAAACCAAGGGAGGGACAGGC 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8564.1, CCDS73427.1 12p13 2013-01-10 ENSG00000111664 ENSG00000111664 2784 WD repeat domain containing 4400 protein-coding gene gene with protein product 139130 NA 11770079, 16600389 Standard NM_002075 XM_005253680 NA Approved uc001qrd.3 P16520 OTTHUMG00000168517 ENST00000229264.3:c.700-126G>A chr12.hg19:g.6954624G>A NA Q96B71|Q9BQC0 hg19 CCDS8564.1 0.02 3.904404 AGGxAGG COVERED NOVEL GNB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400006.1 3 11.127464 KEEP 0 0 0 37 1218 GG 1 0.999994 0 + 5 60 168 0 0 10.400715 103 60 3793 163 ENST00000229264.3 0.046296 0.999994 GNB3 2784 __UNKNOWN__ __UNKNOWN__ 12 6955796 6955796 __UNKNOWN__ Intron SNP C C T rs12229775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6955796C>T ENST00000229264.3 + 11 1321 GNB3_ENST00000435982.2_Intron|CDCA3_ENST00000604599.1_5'UTR|CDCA3_ENST00000422785.3_3'UTR NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 cacacacacacgtacacacac 0.517 NA C||| 363 0.072484 0.0635 0.0029 5008 , , NA 21075 0.2629 NA 0.0 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8564.1, CCDS73427.1 12p13 2013-01-10 ENSG00000111664 ENSG00000111664 2784 WD repeat domain containing 4400 protein-coding gene gene with protein product 139130 NA 11770079, 16600389 Standard NM_002075 XM_005253680 NA Approved uc001qrd.3 P16520 OTTHUMG00000168517 ENST00000229264.3:c.917-160C>T chr12.hg19:g.6955796C>T NA Q96B71|Q9BQC0 hg19 CCDS8564.1 0.02 4.163949 ACAxGTA COVERED NOVEL GNB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400006.1 2 5.115965 KEEP 0 0 0 17 550 CC 0.999366 0.999348 0 + 6 60 223 0 0 15.203166 98 60 3291 121 ENST00000229264.3 0.057692 0.999981 GNB3 2784 __UNKNOWN__ __UNKNOWN__ 12 6956180 6956180 __UNKNOWN__ 3'UTR SNP C C T rs5445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6956180C>T ENST00000229264.3 + 0 1546 CDCA3_ENST00000604599.1_Intron|CDCA3_ENST00000422785.3_Intron NM_002075.2 NP_002066.1 P16520 GBB3_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 3 NA NA cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871) cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1) 20 TAAGCTTTCTCCTTTGAGGGC 0.577 NA C||| 824 0.164537 0.3124 0.1124 5008 , , NA -128 0.3016 NA 0.0129 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8564.1, CCDS73427.1 12p13 2013-01-10 ENSG00000111664 ENSG00000111664 2784 WD repeat domain containing 4400 protein-coding gene gene with protein product 139130 NA 11770079, 16600389 Standard NM_002075 XM_005253680 NA Approved uc001qrd.3 P16520 OTTHUMG00000168517 ENST00000229264.3:c.*118C>T chr12.hg19:g.6956180C>T NA Q96B71|Q9BQC0 hg19 CCDS8564.1 0.02 4.05975 TCTxCTT COVERED NOVEL GNB3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400006.1 1 5.718095 KEEP 0 0 0 19 646 CC 0.99986 0.999857 0 + 5 60 180 0 0 11.440431 111 60 3977 140 ENST00000229264.3 0.043103 0.999997 USP5 8078 __UNKNOWN__ __UNKNOWN__ 12 6965805 6965805 __UNKNOWN__ Intron SNP T T C rs66621175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:6965805T>C ENST00000229268.8 + 6 636 USP5_ENST00000389231.5_Intron NM_001098536.1 NP_001092006.1 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 (isopeptidase T) NA NA positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511) lysosome (GO:0005764) cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270) breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2) 36 TGCAGAGCCCTCTCTCTCTGC 0.557 NA C||| 2521 0.503395 0.8495 0.3847 5008 , , NA 13368 0.505 NA 0.3181 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U35116 CCDS31733.1, CCDS41743.1 12p13 2007-03-02 2005-08-08 ENSG00000111667 ENSG00000111667 8078 Ubiquitin-specific peptidases 12628 protein-coding gene gene with protein product 601447 ubiquitin specific protease 5 (isopeptidase T) NA 12838346, 8723724 Standard NM_003481 NA Approved IsoT uc001qri.4 P45974 OTTHUMG00000169233 ENST00000229268.8:c.585-66T>C chr12.hg19:g.6965805T>C NA D3DUS7|D3DUS8|Q96J22 hg19 CCDS41743.1 0.02 1.821896 CCCxCTC COVERED NOVEL USP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402982.1 2 4.209488 KEEP 0 0 0 14 389 TT 0.995343 0.994045 0 + 4 60 137 0 0 8.808049 72 60 2326 111 ENST00000229268.8 0.052632 0.998696 C1S 716 __UNKNOWN__ __UNKNOWN__ 12 7125481 7125481 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7125481C>T ENST00000406697.1 + 2 229 LPCAT3_ENST00000261407.4_Intron P09871 C1S_HUMAN complement component 1, s subcomponent NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CACAGCCCTCCCGGGTGGCTC 0.662 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA -128 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA GBM(156;750 1943 12971 24779 31015) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31735.1 12p13 2014-09-17 ENSG00000182326 ENSG00000182326 716 3.4.21.42 Complement system 1247 protein-coding gene gene with protein product 120580 NA Standard NM_001734 NM_201442 NA Approved uc001qsl.3 P09871 OTTHUMG00000150305 ENST00000406697.1:c.-400+20047C>T chr12.hg19:g.7125481C>T NA D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14 hg19 CCDS31735.1 0.02 -0.324601 CTCxCGG COVERED NOVEL C1S-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317481.1 1 3.310204 KEEP 0 0 0 11 360 CC 0.993072 0.829926 0 + 3 60 113 0 0 8.210351 34 60 1214 51 ENST00000406697.1 0.081081 0.835716 C1S 716 __UNKNOWN__ __UNKNOWN__ 12 7173116 7173116 __UNKNOWN__ Intron SNP T T G rs78523176 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7173116T>G ENST00000402681.3 + 6 863 C1S_ENST00000406697.1_Intron|C1S_ENST00000328916.3_Intron|C1S_ENST00000360817.5_Intron P09871 C1S_HUMAN complement component 1, s subcomponent NA NA complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CATCATTTTGTTCAGTTTGTT 0.378 NA T||| 3 0.000599042 0.0 0.0 5008 , , NA -128 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA GBM(156;750 1943 12971 24779 31015) NA 0 T , 1,4405 2.1+/-5.4 0,1,2202 130 121 124 , 1.7 0.1 12 dbSNP_131 124 0,8600 0,0,4300 no intron,intron C1S NM_001734.3,NM_201442.2 , 0,1,6502 GG,GT,TT 0.0,0.0227,0.0077 , , 7173116 1,13005 2203 4300 6503 SO:0001627 intron_variant CCDS31735.1 12p13 2014-09-17 ENSG00000182326 ENSG00000182326 716 3.4.21.42 Complement system 1247 protein-coding gene gene with protein product 120580 NA Standard NM_001734 NM_201442 NA Approved uc001qsl.3 P09871 OTTHUMG00000150305 ENST00000402681.3:c.217-5T>G chr12.hg19:g.7173116T>G NA D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14 hg19 0.02 4.467793 TTGxTCA COVERED NOVEL C1S-017 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401825.1 0 11.131193 KEEP 0 0 0 37 1101 TT 1 1 0 + 7 60 258 0 0 16.880834 142 60 5033 213 ENST00000402681.3 0.04698 1 RBP5 83758 __UNKNOWN__ __UNKNOWN__ 12 7276847 7276847 __UNKNOWN__ Intron SNP A A T rs12824504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7276847A>T ENST00000266560.3 - 4 521 NM_031491.2 NP_113679.1 P29762 RABP1_HUMAN retinol binding protein 5, cellular NA NA multicellular organismal development (GO:0007275)|signal transduction (GO:0007165) cytosol (GO:0005829) retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215) autonomic_ganglia(1)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1) 10 Alitretinoin(DB00523)|Tretinoin(DB00755) AAGGTCCTTGACCTCCATTTA 0.517 NA A||| 467 0.0932508 0.0038 0.0692 5008 , , NA -128 0.1766 NA 0.1054 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY007436 CCDS8574.1 12p13.31 2013-03-01 2001-11-28 ENSG00000139194 ENSG00000139194 83758 Fatty acid binding protein family 15847 protein-coding gene gene with protein product 611866 retinol-binding protein 5, cellular NA 11274389 Standard NM_031491 NM_031491 NA Approved CRBPIII uc001qsq.3 P82980 OTTHUMG00000168165 ENST00000266560.3:c.355-77T>A chr12.hg19:g.7276847A>T NA Q6IAY7|Q8WTV5 hg19 CCDS8574.1 0.02 9.514083 TTGxCCT COVERED NOVEL RBP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398554.1 1 21.355351 KEEP 0 0 0 71 2088 AA 1 1 0 - 11 60 313 0 0 17.114475 266 60 9193 412 ENST00000266560.3 0.039711 1 CLSTN3 9746 __UNKNOWN__ __UNKNOWN__ 12 7284935 7284935 __UNKNOWN__ Intron SNP G G A rs2278821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7284935G>A ENST00000266546.6 + 2 514 NM_014718.3 NP_055533.2 Q9BQT9 CSTN3_HUMAN calsyntenin 3 NA NA homophilic cell adhesion (GO:0007156) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TTCTAGGCCAGCCCGATAATC 0.547 NA g||| 443 0.0884585 0.0045 0.072 5008 , , NA -128 0.1825 NA 0.1054 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018269 CCDS8575.1 12p13.31 2011-07-01 ENSG00000139182 ENSG00000139182 9746 Cadherins / Cadherin-related 18371 protein-coding gene gene with protein product cadherin-related family member 14 611324 NA 12498782 Standard NM_014718 NM_014718 NA Approved CSTN3, KIAA0726, CDHR14 uc001qsr.3 Q9BQT9 OTTHUMG00000168167 ENST00000266546.6:c.65-685G>A chr12.hg19:g.7284935G>A NA D3DUT6|O94831|Q2T9J5|Q5UE57 hg19 CCDS8575.1 0.02 6.17646 CCAxCCC COVERED NOVEL CLSTN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000398560.2 2 13.544137 KEEP 0 0 0 45 1620 GG 1 1 0 + 9 60 310 0 0 19.76487 172 60 6429 286 ENST00000266546.6 0.049724 1 ACSM4 341392 __UNKNOWN__ __UNKNOWN__ 12 7463241 7463241 __UNKNOWN__ Silent SNP A A T rs7968241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7463241A>T ENST00000399422.4 + 3 567 c.519A>T c.(517-519)ccA>ccT p.P173P NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 173 NA acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631) mitochondrion (GO:0005739) ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872) endometrium(6)|kidney(1)|lung(14) 21 AGGTGGCCCCAGCGGTGGAGT 0.537 NA A||| 1618 0.323083 0.1997 0.3156 5008 , , NA -128 0.3502 NA 0.5487 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 A 994,2972 154,686,1143 48 48 48 519 -4.9 0 12 dbSNP_116 48 4313,4013 1119,2075,969 no coding-synonymous ACSM4 NM_001080454.1 1273,2761,2112 TT,TA,AA 48.1984,25.063,43.1744 173/581 7463241 5307,6985 1983 4163 6146 SO:0001819 synonymous_variant CCDS44825.1 12p13.31 2008-06-12 ENSG00000215009 ENSG00000215009 341392 Acyl-CoA synthetase family 32016 protein-coding gene gene with protein product similar to olfactory specific medium-chain acyl CoA synthetase 614360 NA 17762044 Standard NM_001080454 NM_001080454 NA Approved uc001qsx.1 P0C7M7 OTTHUMG00000154975 ENST00000399422.4:c.519A>T chr12.hg19:g.7463241A>T NA A8MTI6 hg19 CCDS44825.1 0.02 2.015609 CCCxGCG COVERED NOVEL ACSM4-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000337866.2 2 3.309669 KEEP 0 0 0 11 340 AA 0.993072 0.992842 0 + 5 60 191 0 0 13.151385 83 60 3026 122 ENST00000399422.4 0.056818 0.999768 CD163L1 283316 __UNKNOWN__ __UNKNOWN__ 12 7527390 7527390 __UNKNOWN__ Intron SNP T T C rs113542421 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7527390T>C ENST00000416109.2 - 12 3143 CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000313599.3_Intron NM_174941.4 NP_777601.2 Q9NR16 C163B_HUMAN CD163 molecule-like 1 NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCACATTCTTTAGAGTTGCAG 0.478 NA OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 204 0.0407348 0.0461 0.0187 5008 , , NA -128 0.0387 NA 0.0239 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 T 170,4236 112.9+/-151.0 3,164,2036 39 37 38 -6.5 0 12 dbSNP_132 38 198,8402 86.1+/-148.5 2,194,4104 no intron CD163L1 NM_174941.4 5,358,6140 CC,CT,TT 2.3023,3.8584,2.8295 7527390 368,12638 2203 4300 6503 SO:0001627 intron_variant AF264014 CCDS8577.1, CCDS73434.1 12p13.31 2006-03-28 2006-03-28 ENSG00000177675 283316 30375 protein-coding gene gene with protein product 606079 CD163 antigen-like 1 NA 11124526, 11086079 Standard NM_174941 XM_005253348 NA Approved M160, CD163B uc001qsy.3 Q9NR16 ENST00000416109.2:c.3124+36A>G chr12.hg19:g.7527390T>C 642 B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2 hg19 0.02 12.009371 CTTxAGA COVERED NOVEL CD163L1-002 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000399330.1 1 6.017855 KEEP 0 0 0 20 626 TT 0.999863 0.999863 0 - 8 60 316 0 0 20.002171 245 60 8835 319 ENST00000416109.2 0.031621 1 CD163 9332 __UNKNOWN__ __UNKNOWN__ 12 7633668 7633668 __UNKNOWN__ Intron SNP T T A rs74832781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7633668T>A ENST00000359156.4 - 15 3546 CD163_ENST00000541972.1_Intron|CD163_ENST00000396620.3_Intron|CD163_ENST00000432237.2_Intron NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule NA NA acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898) endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 WF10(DB05389) TAGACTTTTTTAACTGTTTAT 0.388 NA T||| 198 0.0395367 0.0772 0.0115 5008 , , NA -128 0.0575 NA 0.003 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z22968 CCDS8578.1, CCDS53742.1 12p13 2006-03-28 2006-03-28 ENSG00000177575 ENSG00000177575 9332 CD molecules 1631 protein-coding gene gene with protein product 605545 CD163 antigen NA 10403791, 8370408 Standard NM_004244, NM_203416 NM_004244 NA Approved M130, MM130 uc001qsz.3 Q86VB7 OTTHUMG00000168353 ENST00000359156.4:c.3343+88A>T chr12.hg19:g.7633668T>A NA C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7 hg19 CCDS8578.1 0.02 7.91214 TTTxAAC COVERED NOVEL CD163-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000399396.2 1 10.829629 KEEP 0 0 0 36 1057 TT 0.999999 0.999999 0 - 17 60 606 0 0 41.966024 226 60 8026 326 ENST00000359156.4 0.069959 1 SLC2A14 144195 __UNKNOWN__ __UNKNOWN__ 12 7966758 7966758 __UNKNOWN__ 3'UTR SNP T T C rs12301343 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:7966758T>C ENST00000340749.5 - 0 2048 SLC2A14_ENST00000543909.1_3'UTR|SLC2A14_ENST00000396589.2_3'UTR|SLC2A14_ENST00000431042.2_3'UTR|SLC2A14_ENST00000539924.1_3'UTR|SLC2A14_ENST00000542546.1_3'UTR|SLC2A14_ENST00000535295.1_3'UTR|SLC2A14_ENST00000542505.1_3'UTR Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) glucose transmembrane transporter activity (GO:0005355) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) TCCAACAAACTGCAGCCTTGG 0.458 NA C||| 482 0.096246 0.1846 0.1066 5008 , , NA -128 0.123 NA 0.0169 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF481878 CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1 12p13.31 2013-07-15 ENSG00000173262 ENSG00000173262 144195 Solute carriers 18301 protein-coding gene gene with protein product 611039 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3 SLC2A3P3 NA 12504846 Standard NM_153449 NM_001286234 NA Approved GLUT14 uc001qtn.3 Q8TDB8 OTTHUMG00000168463 ENST00000340749.5:c.*154A>G chr12.hg19:g.7966758T>C NA B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9 hg19 0.02 30.144112 AACxGCA COVERED NOVEL SLC2A14-006 KNOWN alternative_5_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000399936.2 1 19.559347 KEEP 0 0 0 65 2060 TT 1 1 0 - 26 60 929 0 0 55.597987 770 70 28420 1069 ENST00000340749.5 0.032663 1 SLC2A14 144195 __UNKNOWN__ __UNKNOWN__ 12 8023918 8023918 __UNKNOWN__ Intron SNP T T C rs28591458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:8023918T>C ENST00000340749.5 - 3 122 SLC2A14_ENST00000544749.1_Intron|SLC2A14_ENST00000543909.1_Intron|SLC2A14_ENST00000396589.2_Intron|SLC2A14_ENST00000431042.2_Intron|SLC2A14_ENST00000539924.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542505.1_Intron Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) glucose transmembrane transporter activity (GO:0005355) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) CAAGTTCAACTAGGTGGAGTT 0.557 NA T||| 854 0.170527 0.1543 0.2089 5008 , , NA -128 0.3581 NA 0.0934 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF481878 CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1 12p13.31 2013-07-15 ENSG00000173262 ENSG00000173262 144195 Solute carriers 18301 protein-coding gene gene with protein product 611039 solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3 SLC2A3P3 NA 12504846 Standard NM_153449 NM_001286234 NA Approved GLUT14 uc001qtn.3 Q8TDB8 OTTHUMG00000168463 ENST00000340749.5:c.279-260A>G chr12.hg19:g.8023918T>C NA B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9 hg19 0.02 -0.386001 AACxAGG COVERED NOVEL SLC2A14-006 KNOWN alternative_5_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000399936.2 0 4.512772 KEEP 0 0 0 15 450 TT 0.99649 0.914948 0 - 3 60 111 0 0 7.776103 41 60 1490 74 ENST00000340749.5 0.068182 0.918171 NANOGP1 404635 __UNKNOWN__ __UNKNOWN__ 12 8049083 8049083 __UNKNOWN__ RNA SNP A A G rs199922342 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:8049083A>G ENST00000607111.1 + 0 263 Q8N7R0 NANG2_HUMAN Nanog homeobox pseudogene 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) kidney(1)|lung(4)|prostate(1) 6 TTGACTGGATAGGCATCATGG 0.438 NA A||| 136 0.0271565 0.0023 0.0432 5008 , , NA -128 0.0942 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AY455283 12p13.31 2014-03-20 ENSG00000176654 ENSG00000176654 404635 Homeoboxes / ANTP class : NKL subclass 23099 pseudogene pseudogene NA 15108323, 15233988 Standard NG_006522 NA Approved NANOG2 uc001qtp.1 Q8N7R0 OTTHUMG00000166020 ENST00000607111.1: chr12.hg19:g.8049083A>G NA hg19 0.02 7.912995 GATxGGC COVERED NOVEL NANOGP1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000470953.1 3 10.832344 KEEP 69 0 0 36 1115 AA 0.999366 0.999366 0 + 7 40 254 0 0 14.956388 237 50 8747 405 ENST00000607111.1 0.028689 1 SLC2A3 6515 __UNKNOWN__ __UNKNOWN__ 12 8072855 8072855 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:8072855A>G ENST00000075120.7 - 0 2885 NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 NA NA carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) glucose transmembrane transporter activity (GO:0005355) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) ACAAAGTGGAAAAATAATGAA 0.343 NA NA NA NA NA NA NA NA NA NA Colon(96;424 1461 14416 20933 23688) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M20681 CCDS8586.1 12p13.3 2013-05-22 ENSG00000059804 ENSG00000059804 6515 Solute carriers 11007 protein-coding gene gene with protein product 138170 GLUT3 NA Standard NM_006931 NM_006931 NA Approved uc001qtr.3 P11169 OTTHUMG00000133685 ENST00000075120.7:c.*1154T>C chr12.hg19:g.8072855A>G NA B2R606|D3DUU6|Q6I9U2|Q9UG15 hg19 CCDS8586.1 0.02 26.920974 GGAxAAA COVERED NOVEL SLC2A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257914.1 7 7.000398 KEEP 24 8 277 120 3766 AA 1 1 0 - 62 60 2250 0 0 166.133523 579 60 20879 927 ENST00000075120.7 0.096724 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 8384474 8384474 __UNKNOWN__ IGR SNP C C T rs201275447 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:8384474C>T NA NA AC092111.1 (2041 upstream) : FAM86FP (2463 downstream) NA NA NA TGGCCAGAAGCTGAAATGACG 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.8384474C>T NA hg19 0.02 -0.36847 AAGxTGA COVERED NOVEL 0 0 3.045971 KEEP 0 1 34 22 810 CC 0.999892 0.899217 0 4 47 149 0 0 11.072921 38 55 1437 95 0.095238 0.899314 M6PR 4074 __UNKNOWN__ __UNKNOWN__ 12 9098149 9098149 __UNKNOWN__ Missense_Mutation SNP T T C rs144462453 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9098149T>C ENST00000000412.3 - 3 676 c.208A>G c.(208-210)Aca>Gca p.T70A NM_002355.3 NP_002346.1 P20645 MPRD_HUMAN mannose-6-phosphate receptor (cation dependent) 70 NA endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165) endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020) mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888) cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1) 11 Hepatocellular(102;0.137) BRCA - Breast invasive adenocarcinoma(232;0.0146) Alglucosidase alfa(DB01272) TAGATGTATGTGTCTGAACCC 0.502 NA T||| 35 0.00698882 0.0 0.0 5008 , , NA -128 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 118 100 106 NA NA 12 NA 9098149 2203 4300 6503 SO:0001583 missense CCDS8598.1, CCDS73440.1 12p13.31 2013-09-20 ENSG00000003056 ENSG00000003056 4074 6752 protein-coding gene gene with protein product 154540 NA Standard NM_002355 NA Approved uc001qvf.3 P20645 OTTHUMG00000168276 ENST00000000412.3:c.208A>G chr12.hg19:g.9098149T>C ENSP00000000412:p.Thr70Ala NA A8K528|D3DUV5 hg19 CCDS8598.1 0.02 1.836847 ATGxGTC COVERED 15 0.006868131868131868 0 0.0 0 0.0 15 0.026223776223776224 0 0.0 T 9.483 1.098710 0.20552 . . ENSG00000003056 ENST00000000412;ENST00000543845;ENST00000543159 T;T;T 0.76578 -1.03;-1.03;-1.03 5.73 1.78 0.24846 Mannose-6-phosphate receptor, binding (1); 0.414749 0.30410 N 0.009682 T 0.31796 0.0808 N 0.19112 0.55 0.09310 N 1 B 0.02656 0.0 B 0.11329 0.006 T 0.11665 -1.0578 10 0.14656 T 0.56 -14.6953 6.2446 0.20810 0.2654:0.0763:0.0:0.6583 . 70 P20645 MPRD_HUMAN A 70 ENSP00000000412:T70A;ENSP00000440962:T70A;ENSP00000441030:T70A ENSP00000000412:T70A T - 1 0 M6PR 8989416 0.392000 0.25229 0.061000 0.19648 0.556000 0.35491 2.839000 0.48207 0.954000 0.37851 0.528000 0.53228 ACA NOVEL M6PR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399130.1 0 7.822446 KEEP 0 0 0 26 803 TT 0.999957 0.999896 0 - 4 60 143 0 0 8.972687 93 60 3355 152 ENST00000000412.3 0.041237 0.99994 PZP 5858 __UNKNOWN__ __UNKNOWN__ 12 9312951 9312951 __UNKNOWN__ Missense_Mutation SNP G G A rs57006764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9312951G>A ENST00000261336.2 - 24 3036 c.3008C>T c.(3007-3009)aCg>aTg p.T1003M PZP_ENST00000381997.2_Missense_Mutation_p.T789M NM_002864.2 NP_002855.2 P20742 PZP_HUMAN pregnancy-zone protein 1003 NA T -> M (in dbSNP:rs57006764). female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GATCTCCTGCGTCAGCTGCTG 0.428 NA G||| 1356 0.270767 0.1619 0.2695 5008 , , NA -128 0.4762 NA 0.1909 False NA ,,, NA NA NA 2504 0.2894 NA NA NA Melanoma(125;1402 1695 4685 34487 38571) NA 0 G MET/THR 710,3696 293.6+/-282.7 68,574,1561 130 119 123 3008 3.7 0 12 dbSNP_129 123 1456,7144 278.2+/-293.3 116,1224,2960 yes missense PZP NM_002864.2 81 184,1798,4521 AA,AG,GG 16.9302,16.1144,16.6539 probably-damaging 1003/1483 9312951 2166,10840 2203 4300 6503 SO:0001583 missense X54380, M24416, X51541 CCDS8600.1 12p13-p12.2 2008-02-01 ENSG00000126838 ENSG00000126838 5858 9750 protein-coding gene gene with protein product 176420 NA Standard NM_002864 NM_002864 NA Approved CPAMD6 uc001qvl.3 P20742 OTTHUMG00000154915 ENST00000261336.2:c.3008C>T chr12.hg19:g.9312951G>A ENSP00000261336:p.Thr1003Met NA A6ND27|Q15273|Q2NKL2|Q7M4N7 hg19 CCDS8600.1 0.02 13.471604 TGCxTCA COVERED 577 0.2641941391941392 105 0.21341463414634146 92 0.2541436464088398 253 0.4423076923076923 127 0.16754617414248021 G 11.01 1.514300 0.27123 0.161144 0.169302 ENSG00000126838 ENST00000261336;ENST00000381997 T;T 0.40225 1.04;1.04 4.56 3.67 0.42095 Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1); 0.075423 0.48286 U 0.000182 T 0.00012 0.0000 M 0.90369 3.11 0.43203 P 0.004940999999999973 D;D 0.89917 1.0;1.0 D;D 0.83275 0.951;0.996 T 0.38090 -0.9677 9 0.87932 D 0 . 8.6441 0.33994 0.0835:0.1509:0.7656:0.0 rs57006764;rs61740800 789;1003 P20742-2;P20742 .;PZP_HUMAN M 1003;789 ENSP00000261336:T1003M;ENSP00000371427:T789M ENSP00000261336:T1003M T - 2 0 PZP 9204218 0.993000 0.37304 0.031000 0.17742 0.009000 0.06853 2.458000 0.45014 1.044000 0.40200 0.563000 0.77884 ACG NOVEL PZP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337624.1 2 12.333966 KEEP 0 0 0 41 1416 GG 1 1 0 - 14 60 522 0 0 33.601327 323 60 11423 463 ENST00000261336.2 0.041543 1 PZP 5858 __UNKNOWN__ __UNKNOWN__ 12 9317784 9317784 __UNKNOWN__ Missense_Mutation SNP A A G rs2277413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9317784A>G ENST00000261336.2 - 19 2466 c.2438T>C c.(2437-2439)gTc>gCc p.V813A PZP_ENST00000381997.2_Missense_Mutation_p.V682A|PZP_ENST00000539983.1_5'UTR NM_002864.2 NP_002855.2 P20742 PZP_HUMAN pregnancy-zone protein 813 NA V -> A (in dbSNP:rs2277413). female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GAGTGTGAAGACCTCTCCACG 0.498 NA A||| 1934 0.386182 0.3411 0.2421 5008 , , NA -128 0.5357 NA 0.3419 False NA ,,, NA NA NA 2504 0.4407 NA NA NA Melanoma(125;1402 1695 4685 34487 38571) NA 0 A ALA/VAL 1464,2942 463.4+/-353.5 261,942,1000 127 120 122 2438 -0.9 1 12 dbSNP_100 122 2537,6063 408.7+/-349.6 381,1775,2144 no missense PZP NM_002864.2 64 642,2717,3144 GG,GA,AA 29.5,33.2274,30.7627 benign 813/1483 9317784 4001,9005 2203 4300 6503 SO:0001583 missense X54380, M24416, X51541 CCDS8600.1 12p13-p12.2 2008-02-01 ENSG00000126838 ENSG00000126838 5858 9750 protein-coding gene gene with protein product 176420 NA Standard NM_002864 NM_002864 NA Approved CPAMD6 uc001qvl.3 P20742 OTTHUMG00000154915 ENST00000261336.2:c.2438T>C chr12.hg19:g.9317784A>G ENSP00000261336:p.Val813Ala NA A6ND27|Q15273|Q2NKL2|Q7M4N7 hg19 CCDS8600.1 0.02 18.204235 AAGxCCT COVERED 732 0.33516483516483514 137 0.2784552845528455 97 0.26795580110497236 282 0.493006993006993 216 0.2849604221635884 A 0.003 -2.442208 0.00180 0.332274 0.295 ENSG00000126838 ENST00000261336;ENST00000381997 T;T 0.24908 1.83;1.83 3.7 -0.929 0.10444 Alpha-2-macroglobulin (1); 0.671497 0.13428 N 0.388670 T 0.00012 0.0000 N 0.02420 -0.555 0.80722 P 0.0 B;B;B 0.16802 0.001;0.019;0.001 B;B;B 0.15484 0.002;0.013;0.002 T 0.43360 -0.9396 9 0.02654 T 1 . 3.0317 0.06109 0.268:0.1205:0.4895:0.122 rs2277413;rs59075755;rs2277413 813;682;813 B2R950;P20742-2;P20742 .;.;PZP_HUMAN A 813;682 ENSP00000261336:V813A;ENSP00000371427:V682A ENSP00000261336:V813A V - 2 0 PZP 9209051 0.000000 0.05858 0.990000 0.47175 0.212000 0.24457 -1.395000 0.02516 0.004000 0.14682 -1.483000 0.00984 GTC NOVEL PZP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337624.1 1 7.456837 KEEP 0 1 38 38 1162 AA 1 1 0 - 23 60 868 0 0 58.749878 410 60 14041 547 ENST00000261336.2 0.053118 1 PZP 5858 __UNKNOWN__ __UNKNOWN__ 12 9333749 9333749 __UNKNOWN__ Intron SNP G G A rs919209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9333749G>A ENST00000261336.2 - 15 1718 PZP_ENST00000381997.2_Intron NM_002864.2 NP_002855.2 P20742 PZP_HUMAN pregnancy-zone protein NA NA female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGAAGGAAACGTCAACCAGTG 0.493 NA G||| 1462 0.291933 0.3525 0.2075 5008 , , NA -128 0.3452 NA 0.2495 False NA ,,, NA NA NA 2504 0.2587 NA NA NA Melanoma(125;1402 1695 4685 34487 38571) NA 0 G 1443,2963 467.9+/-355.0 229,985,989 61 50 54 -0.2 0 12 dbSNP_86 54 1847,6753 329.7+/-318.9 191,1465,2644 no intron PZP NM_002864.2 420,2450,3633 AA,AG,GG 21.4767,32.7508,25.296 9333749 3290,9716 2203 4300 6503 SO:0001627 intron_variant X54380, M24416, X51541 CCDS8600.1 12p13-p12.2 2008-02-01 ENSG00000126838 ENSG00000126838 5858 9750 protein-coding gene gene with protein product 176420 NA Standard NM_002864 NM_002864 NA Approved CPAMD6 uc001qvl.3 P20742 OTTHUMG00000154915 ENST00000261336.2:c.1690-21C>T chr12.hg19:g.9333749G>A NA A6ND27|Q15273|Q2NKL2|Q7M4N7 hg19 CCDS8600.1 0.02 6.526801 AACxTCA COVERED NOVEL PZP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337624.1 0 8.119321 KEEP 0 0 0 27 961 GG 0.999988 0.999988 0 - 9 60 316 0 0 20.202826 189 60 6729 280 ENST00000261336.2 0.045455 1 PZP 5858 __UNKNOWN__ __UNKNOWN__ 12 9344878 9344878 __UNKNOWN__ Intron SNP A A G rs2075394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9344878A>G ENST00000261336.2 - 13 1511 PZP_ENST00000381997.2_Intron NM_002864.2 NP_002855.2 P20742 PZP_HUMAN pregnancy-zone protein NA NA female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 AGTGAAGGAAATTTCTTGAGC 0.458 NA A||| 1549 0.309305 0.3041 0.2363 5008 , , NA -128 0.3819 NA 0.3082 False NA ,,, NA NA NA 2504 0.2945 NA NA NA Melanoma(125;1402 1695 4685 34487 38571) NA 0 A 1333,3073 445.1+/-347.6 197,939,1067 65 62 63 -5.2 0 12 dbSNP_96 63 2411,6189 398.8+/-346.2 343,1725,2232 no intron PZP NM_002864.2 540,2664,3299 GG,GA,AA 28.0349,30.2542,28.7867 9344878 3744,9262 2203 4300 6503 SO:0001627 intron_variant X54380, M24416, X51541 CCDS8600.1 12p13-p12.2 2008-02-01 ENSG00000126838 ENSG00000126838 5858 9750 protein-coding gene gene with protein product 176420 NA Standard NM_002864 NM_002864 NA Approved CPAMD6 uc001qvl.3 P20742 OTTHUMG00000154915 ENST00000261336.2:c.1483-26T>C chr12.hg19:g.9344878A>G NA A6ND27|Q15273|Q2NKL2|Q7M4N7 hg19 CCDS8600.1 0.02 9.442002 GAAxTTT COVERED NOVEL PZP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337624.1 1 10.833521 KEEP 0 0 0 36 1168 AA 0.999999 0.999999 0 - 14 60 523 0 0 36.109059 215 60 7632 313 ENST00000261336.2 0.061135 1 PZP 5858 __UNKNOWN__ __UNKNOWN__ 12 9346792 9346792 __UNKNOWN__ Missense_Mutation SNP G G C rs12230214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9346792G>C ENST00000261336.2 - 11 1163 c.1135C>G c.(1135-1137)Ctc>Gtc p.L379V PZP_ENST00000381997.2_Missense_Mutation_p.L248V NM_002864.2 NP_002855.2 P20742 PZP_HUMAN pregnancy-zone protein 379 NA L -> V (in dbSNP:rs12230214). female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATGAAGAAGAGTTTATTGGGG 0.433 NA G||| 1391 0.277756 0.1876 0.232 5008 , , NA -128 0.3819 NA 0.3072 False NA ,,, NA NA NA 2504 0.2945 NA NA NA Melanoma(125;1402 1695 4685 34487 38571) NA 0 G VAL/LEU 799,3607 319.6+/-296.2 62,675,1466 174 161 166 1135 0.4 0 12 dbSNP_120 166 2400,6200 398.1+/-346.0 343,1714,2243 yes missense PZP NM_002864.2 32 405,2389,3709 CC,CG,GG 27.907,18.1344,24.5963 benign 379/1483 9346792 3199,9807 2203 4300 6503 SO:0001583 missense X54380, M24416, X51541 CCDS8600.1 12p13-p12.2 2008-02-01 ENSG00000126838 ENSG00000126838 5858 9750 protein-coding gene gene with protein product 176420 NA Standard NM_002864 NM_002864 NA Approved CPAMD6 uc001qvl.3 P20742 OTTHUMG00000154915 ENST00000261336.2:c.1135C>G chr12.hg19:g.9346792G>C ENSP00000261336:p.Leu379Val NA A6ND27|Q15273|Q2NKL2|Q7M4N7 hg19 CCDS8600.1 0.02 12.146133 AGAxTTT COVERED 658 0.30128205128205127 119 0.241869918699187 101 0.27900552486187846 219 0.38286713286713286 219 0.28891820580474936 G 0.653 -0.808602 0.02819 0.181344 0.27907 ENSG00000126838 ENST00000261336;ENST00000381997 T;T 0.34472 1.56;1.36 3.53 0.366 0.16136 . 1.257310 0.06069 U 0.659789 T 0.00012 0.0000 N 0.12569 0.235 0.80722 P 0.0 B;B 0.20052 0.041;0.0 B;B 0.20955 0.032;0.001 T 0.44483 -0.9325 9 0.18710 T 0.47 . 2.4418 0.04496 0.1151:0.1872:0.5056:0.1921 rs12230214;rs52810221;rs12230214 248;379 P20742-2;P20742 .;PZP_HUMAN V 379;248 ENSP00000261336:L379V;ENSP00000371427:L248V ENSP00000261336:L379V L - 1 0 PZP 9238059 0.000000 0.05858 0.009000 0.14445 0.469000 0.32828 -0.997000 0.03705 -0.038000 0.13624 -0.319000 0.08680 CTC NOVEL PZP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337624.1 1 12.039563 KEEP 0 0 0 40 1454 GG 1 1 0 - 18 60 698 0 0 49.266729 266 60 10000 407 ENST00000261336.2 0.06338 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9447029 9447029 __UNKNOWN__ IGR SNP T T C rs2432993 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9447029T>C NA NA SNORA75 (7611 upstream) : RP13-735L24.1 (73030 downstream) NA NA p.V132A(1) NA CTCCTGTAGGTGGAGCAGGCC 0.607 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) endometrium(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9447029T>C NA hg19 0.02 3.532344 AGGxGGA COVERED NOVEL 0 2 11.419465 KEEP 5 0 0 38 1145 TT 1 1 0 6 27 204 0 0 12.477521 136 60 4875 234 0.042254 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9453702 9453702 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9453702C>T NA NA SNORA75 (14284 upstream) : RP13-735L24.1 (66357 downstream) NA NA p.P370S(2) NA GGTGGTGCTGCCCTATCAGAT 0.662 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(1)|endometrium(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9453702C>T NA hg19 0.02 -0.438644 CTGxCCT COVERED NOVEL 0 0 2.707825 KEEP 20 0 0 9 297 CC 0.99257 0.952727 0 6 40 197 0 0 14.597966 44 40 1640 81 0.12 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9464358 9464358 __UNKNOWN__ IGR SNP A A G rs113650130 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9464358A>G NA NA SNORA75 (24940 upstream) : RP13-735L24.1 (55701 downstream) NA NA NA CAGGTGACAGAGGCCCTGCTC 0.557 NA G||| 7 0.00139776 0.0023 0.0 5008 , , NA -128 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9464358A>G NA hg19 0.02 9.796708 CAGxGGC COVERED NOVEL 0 2 17.45126 KEEP 2 0 0 58 1790 AA 1 1 0 9 40 309 0 0 18.97279 207 60 7559 349 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9574020 9574020 __UNKNOWN__ IGR SNP T T C rs200847155 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9574020T>C NA NA RP13-735L24.1 (23807 upstream) : SNORA75 (23633 downstream) NA NA p.L672L(1) NA ACGTGAATTCTAGCGGCTGGT 0.597 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) endometrium(1) 53 57 55 NA NA 12 NA 9574020 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9574020T>C NA hg19 0.02 16.921831 TTCxAGC COVERED NOVEL 0 0 12.908088 KEEP 1 2 75 69 2128 TT 1 1 0 24 40 907 0 0 62.878206 371 60 13580 582 0.060759 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 9586746 9586746 __UNKNOWN__ IGR SNP T T A rs201559465 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9586746T>A NA NA RP13-735L24.1 (36533 upstream) : SNORA75 (10907 downstream) NA NA NA TCTGTGTGTGTGAGAGAGAAC 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.9586746T>A NA hg19 0.02 9.772722 GTGxGAG COVERED NOVEL 0 1 4.146443 KEEP 9 1 32 25 784 TT 0.999909 0.999909 0 15 47 581 0 0 41.698614 198 50 7171 284 0.070423 1 KLRB1 3820 __UNKNOWN__ __UNKNOWN__ 12 9747288 9747288 __UNKNOWN__ 3'UTR SNP C C T rs10844140 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:9747288C>T ENST00000229402.3 - 0 1306 NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 NA NA cell surface receptor signaling pathway (GO:0007166) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888) endometrium(2)|large_intestine(6)|lung(4) 12 aaagaaatgacaggatgaaga 0.393 NA C||| 2033 0.40595 0.1467 0.5014 5008 , , NA -128 0.5337 NA 0.4235 False NA ,,, NA NA NA 2504 0.5389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U11276 CCDS8601.1 12p13 2014-05-22 ENSG00000111796 ENSG00000111796 3820 Killer cell lectin-like receptors, CD molecules, C-type lectin domain containing 6373 protein-coding gene gene with protein product 602890 NKR NA 8077657 Standard NM_002258 NM_002258 NA Approved CD161, NKR-P1, NKR-P1A, hNKR-P1A, CLEC5B uc010sgt.2 Q12918 OTTHUMG00000168581 ENST00000229402.3:c.*582G>A chr12.hg19:g.9747288C>T NA Q24K24 hg19 CCDS8601.1 0.02 1.868599 TGAxAGG COVERED NOVEL KLRB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400280.1 1 5.718769 KEEP 0 0 0 19 679 CC 0.99986 0.999267 0 - 5 60 186 0 0 12.809493 77 60 2906 126 ENST00000229402.3 0.060976 0.999407 TAS2R50 259296 __UNKNOWN__ __UNKNOWN__ 12 11138852 11138852 __UNKNOWN__ Missense_Mutation SNP C C T rs1376251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11138852C>T ENST00000506868.1 - 1 659 c.608G>A c.(607-609)tGt>tAt p.C203Y PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 203 NA C -> Y (in dbSNP:rs1376251). {ECO:0000269|PubMed:12379855}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 GAGATGTTTACACAGAGAACA 0.413 NA C||| 2055 0.410343 0.056 0.3775 5008 , , NA 20640 0.755 NA 0.3579 False NA ,,, NA NA NA 2504 0.6115 NA NA NA NA 0 GRCh37 CM053427 TAS2R50 M rs1376251 C TYR/CYS 420,3986 204.8+/-226.9 20,380,1803 140 132 135 608 1.2 0.1 12 dbSNP_88 135 2878,5722 451.3+/-362.6 495,1888,1917 yes missense TAS2R50 NM_176890.2 194 515,2268,3720 TT,TC,CC 33.4651,9.5325,25.3575 benign 203/300 11138852 3298,9708 2203 4300 6503 SO:0001583 missense AF494235 CCDS8638.1 12p13.2 2012-08-22 ENSG00000212126 ENSG00000212126 259296 Taste receptors / Type 2, GPCR / Unclassified : Taste receptors 18882 protein-coding gene gene with protein product 609627 NA 12379855, 12584440, 16175505 Standard NM_176890 NM_176890 NA Approved T2R51 uc001qzl.2 P59544 OTTHUMG00000162719 ENST00000506868.1:c.608G>A chr12.hg19:g.11138852C>T ENSP00000424040:p.Cys203Tyr NA P59545|Q2M255|Q645Y0 hg19 CCDS8638.1 0.02 8.712525 TTAxACA COVERED 868 0.3974358974358974 26 0.052845528455284556 150 0.4143646408839779 426 0.7447552447552448 266 0.35092348284960423 C 7.954 0.745525 0.15710 0.095325 0.334651 ENSG00000212126 ENST00000506868 T 0.36520 1.25 2.19 1.22 0.21188 . 0.531082 0.16393 U 0.216373 T 0.00012 0.0000 M 0.86028 2.79 0.58432 P 1.0000000000287557E-6 B 0.19583 0.037 B 0.27608 0.081 T 0.26985 -1.0087 9 0.27785 T 0.31 . 7.5054 0.27542 0.2586:0.7414:0.0:0.0 rs1376251;rs52810970;rs57200136;rs1376251 203 P59544 T2R50_HUMAN Y 203 ENSP00000424040:C203Y ENSP00000424040:C203Y C - 2 0 TAS2R50 11030119 0.336000 0.24757 0.078000 0.20375 0.492000 0.33523 1.588000 0.36633 0.217000 0.20800 0.313000 0.20887 TGT NOVEL TAS2R50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370192.2 0 5.417755 KEEP 0 0 0 18 639 CC 0.999859 0.999859 0 - 11 60 381 0 0 24.385851 210 60 7871 275 ENST00000506868.1 0.049774 1 TAS2R46 259292 __UNKNOWN__ __UNKNOWN__ 12 11214535 11214535 __UNKNOWN__ Missense_Mutation SNP T T C rs74198939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11214535T>C ENST00000533467.1 - 1 358 c.359A>G c.(358-360)cAc>cGc p.H120R PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 120 NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580) cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CCTCTTTAAGTGAAGAAAAAT 0.368 NA .||| 5 0.000998403 0.0 0.0 5008 , , NA 20555 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 88 93 91 NA NA 12 NA 11214535 2027 4203 6230 SO:0001583 missense AF494227 CCDS53748.1 12p13.2 2012-08-22 ENSG00000226761 259292 Taste receptors / Type 2, GPCR / Unclassified : Taste receptors 18877 protein-coding gene gene with protein product 612774 NA 12379855 Standard NM_176887 NM_176887 NA Approved T2R54 uc001qzp.1 P59540 ENST00000533467.1:c.359A>G chr12.hg19:g.11214535T>C ENSP00000436450:p.His120Arg NA P59548|Q645X6 hg19 CCDS53748.1 0.02 7.563894 AAGxGAA COVERED . . . . . . . . . . t 1.867 -0.461270 0.04508 . . ENSG00000226761 ENST00000533467 T 0.00730 5.77 2.54 -1.43 0.08884 . . . . . T 0.00906 0.0030 L 0.48642 1.525 0.09310 N 1 B 0.06786 0.001 B 0.17722 0.019 T 0.40001 -0.9586 9 0.31617 T 0.26 . 8.2925 0.31965 0.0:0.5775:0.0:0.4225 . 120 P59540 T2R46_HUMAN R 120 ENSP00000436450:H120R ENSP00000436450:H120R H - 2 0 TAS2R46 11105802 0.000000 0.05858 0.000000 0.03702 0.054000 0.15201 -1.211000 0.02997 -0.536000 0.06298 -3.032000 0.00072 CAC NOVEL TAS2R46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383559.1 1 3.74593 KEEP 3 1 33 24 760 TT 0.999931 0.999931 0 - 10 40 345 0 0 21.697582 206 60 7378 279 ENST00000533467.1 0.046296 1 TAS2R43 259289 __UNKNOWN__ __UNKNOWN__ 12 11244194 11244194 __UNKNOWN__ Missense_Mutation SNP T T C rs71443637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11244194T>C ENST00000531678.1 - 1 718 c.635A>G c.(634-636)cAt>cGt p.H212R PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 212 NA H -> R (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527) endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TCCTTTACCATGGAGCTGCAT 0.408 NA .||| 3114 0.621805 0.0998 0.7104 5008 , , NA 13446 0.9425 NA 0.7525 False NA ,,, NA NA NA 2504 0.7996 NA NA NA NA 0 123 99 107 NA NA 12 NA 11244194 2155 4165 6320 SO:0001583 missense AF494237 CCDS53749.1 12p13.2 2012-08-22 ENSG00000255374 259289 Taste receptors / Type 2, GPCR / Unclassified : Taste receptors 18875 protein-coding gene gene with protein product 612668 NA 12379855 Standard NM_176884 NM_176884 NA Approved T2R52 uc001qzq.1 P59537 ENST00000531678.1:c.635A>G chr12.hg19:g.11244194T>C ENSP00000431719:p.His212Arg NA P59546|Q645X4 hg19 CCDS53749.1 0.02 11.719777 CCAxGGA COVERED 949 0.43452380952380953 28 0.056910569105691054 163 0.45027624309392267 439 0.7674825174825175 319 0.420844327176781 - 2.129 -0.399500 0.04865 . . ENSG00000255374 ENST00000531678 T 0.00737 5.76 1.45 -1.32 0.09201 . . . . . T 0.00012 0.0000 M 0.86178 2.8 0.80722 P 0.0 . . . . . . T 0.07028 -1.0794 6 0.52906 T 0.07 . 4.3248 0.11034 0.0:0.4339:0.0:0.5661 . . . . R 212 ENSP00000431719:H212R ENSP00000431719:H212R H - 2 0 TAS2R43 11135461 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.381000 0.07417 -0.374000 0.07967 -1.273000 0.01405 CAT NOVEL TAS2R43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383561.1 8 9.027446 KEEP 2 0 0 30 944 TT 0.999997 0.999997 0 - 24 60 862 0 0 64.436746 202 60 7416 349 ENST00000531678.1 0.106195 1 TAS2R43 259289 __UNKNOWN__ __UNKNOWN__ 12 11244725 11244725 __UNKNOWN__ Missense_Mutation SNP C C G rs68157013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11244725C>G ENST00000531678.1 - 1 187 c.104G>C c.(103-105)tGg>tCg p.W35S PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 35 NA W -> S (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}. detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527) endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TCTCTTGAACCACTCAATGGA 0.383 NA .||| 3113 0.621605 0.0976 0.7118 5008 , , NA 11851 0.9425 NA 0.7525 False NA ,,, NA NA NA 2504 0.8006 NA NA NA NA 0 45 39 41 NA NA 12 NA 11244725 1858 3572 5430 SO:0001583 missense AF494237 CCDS53749.1 12p13.2 2012-08-22 ENSG00000255374 259289 Taste receptors / Type 2, GPCR / Unclassified : Taste receptors 18875 protein-coding gene gene with protein product 612668 NA 12379855 Standard NM_176884 NM_176884 NA Approved T2R52 uc001qzq.1 P59537 ENST00000531678.1:c.104G>C chr12.hg19:g.11244725C>G ENSP00000431719:p.Trp35Ser NA P59546|Q645X4 hg19 CCDS53749.1 0.02 4.895641 AACxACT COVERED 926 0.423992673992674 31 0.06300813008130081 161 0.4447513812154696 418 0.7307692307692307 316 0.41688654353562005 - 1.291 -0.607724 0.03717 . . ENSG00000255374 ENST00000531678 T 0.01113 5.32 1.97 0.939 0.19506 . . . . . T 0.00012 0.0000 H 0.97051 3.93 0.30802 P 0.739796 . . . . . . T 0.26573 -1.0099 6 0.72032 D 0.01 . 5.2922 0.15733 0.3385:0.6615:0.0:0.0 . . . . S 35 ENSP00000431719:W35S ENSP00000431719:W35S W - 2 0 TAS2R43 11135992 0.155000 0.22806 0.246000 0.24233 0.092000 0.18411 1.065000 0.30592 0.107000 0.17824 0.184000 0.17185 TGG NOVEL TAS2R43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000383561.1 1 6.019036 KEEP 2 0 0 20 662 CC 0.999863 0.999862 0 - 11 60 384 0 0 28.654297 88 70 3195 156 ENST00000531678.1 0.111111 0.999999 PRB4 5545 __UNKNOWN__ __UNKNOWN__ 12 11461742 11461742 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11461742C>T ENST00000535904.1 - 3 208 c.175G>A c.(175-177)Gga>Aga p.G59R PRB4_ENST00000445719.2_Missense_Mutation_p.G59R|PRB4_ENST00000279575.1_Missense_Mutation_p.G59R P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 80 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGGGGTGGTCCTTGTGGCTTT 0.627 NA HNSCC(22;0.051) NA NA NA NA NA NA NA NA NA NA 0 205 222 216 NA NA 12 NA 11461742 2201 4293 6494 SO:0001583 missense CCDS8641.1, CCDS58208.1 12p13.2 2012-10-02 ENSG00000230657 ENSG00000230657 5545 9340 protein-coding gene gene with protein product 180990 NA Standard NM_002723 NM_002723 NA Approved uc001qzt.4 P10163 OTTHUMG00000169116 ENST00000535904.1:c.175G>A chr12.hg19:g.11461742C>T ENSP00000442834:p.Gly59Arg NA A1L439|O00600|P02813|P10161|P10162|P81489 hg19 CCDS8641.1 0.02 3.688198 GTCxTTG COVERED . . . . . . . . . . . 1.855 -0.464114 0.04476 . . ENSG00000230657 ENST00000279575;ENST00000535904;ENST00000445719 T;T;T 0.04862 3.54;3.54;3.54 0.956 -1.91 0.07641 . . . . . T 0.06554 0.0168 M 0.66297 2.02 0.09310 N 1 B 0.12630 0.006 B 0.06405 0.002 T 0.40079 -0.9582 9 0.31617 T 0.26 . 2.5673 0.04786 0.0:0.3453:0.2742:0.3805 . 59 E9PAL0 . R 59 ENSP00000279575:G59R;ENSP00000442834:G59R;ENSP00000412740:G59R ENSP00000279575:G59R G - 1 0 PRB4 11353009 0.000000 0.05858 0.000000 0.03702 0.018000 0.09664 -2.693000 0.00829 -1.187000 0.02709 0.196000 0.17591 GGA NOVEL PRB4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402308.1 1 2.431227 KEEP 0 1 34 20 672 CC 0.999869 0.999865 0 - 11 60 314 0 0 21.094175 101 60 3374 180 ENST00000535904.1 0.098214 0.999996 PRB4 5545 __UNKNOWN__ __UNKNOWN__ 12 11461745 11461745 __UNKNOWN__ Missense_Mutation SNP G G C rs76859544 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11461745G>C ENST00000535904.1 - 3 205 c.172C>G c.(172-174)Caa>Gaa p.Q58E PRB4_ENST00000445719.2_Missense_Mutation_p.Q58E|PRB4_ENST00000279575.1_Missense_Mutation_p.Q58E P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 79 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. NA extracellular region (GO:0005576) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGTGGTCCTTGTGGCTTTCCT 0.622 NA HNSCC(22;0.051) NA NA NA NA NA NA NA NA NA NA 0 202 219 213 NA NA 12 NA 11461745 2200 4291 6491 SO:0001583 missense CCDS8641.1, CCDS58208.1 12p13.2 2012-10-02 ENSG00000230657 ENSG00000230657 5545 9340 protein-coding gene gene with protein product 180990 NA Standard NM_002723 NM_002723 NA Approved uc001qzt.4 P10163 OTTHUMG00000169116 ENST00000535904.1:c.172C>G chr12.hg19:g.11461745G>C ENSP00000442834:p.Gln58Glu NA A1L439|O00600|P02813|P10161|P10162|P81489 hg19 CCDS8641.1 0.02 4.502842 CTTxTGG COVERED . . . . . . . . . . . 0.003 -2.536657 0.00143 . . ENSG00000230657 ENST00000279575;ENST00000535904;ENST00000445719 T;T;T 0.04706 3.57;3.57;3.57 0.956 -1.49 0.08718 . . . . . T 0.02418 0.0074 N 0.13235 0.315 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.47636 -0.9102 9 0.02654 T 1 . 8.6632 0.34106 0.0:0.31:0.69:0.0 . 58 E9PAL0 . E 58 ENSP00000279575:Q58E;ENSP00000442834:Q58E;ENSP00000412740:Q58E ENSP00000279575:Q58E Q - 1 0 PRB4 11353012 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.476000 0.06591 -2.427000 0.00559 -3.275000 0.00048 CAA NOVEL PRB4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402308.1 1 2.946114 KEEP 0 1 38 23 794 GG 0.999909 0.999903 0 - 7 60 212 0 0 13.299775 103 60 3599 179 ENST00000535904.1 0.063636 0.999994 ETV6 2120 __UNKNOWN__ __UNKNOWN__ 12 11903967 11903967 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:11903967G>T ENST00000396373.4 + 2 307 ETV6_ENST00000544715.1_Intron NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 NA NA cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) GAAACCTCAGGATGTATGTTT 0.398 NA T NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5 congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL NA NA NA NA NA NA NA NA NA Dom yes 12 12p13 2120 ets variant gene 6 (TEL oncogene) L, E, M 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC043399 CCDS8643.1 12p13 2014-09-17 2008-09-12 ENSG00000139083 ENSG00000139083 2120 3495 protein-coding gene gene with protein product TEL oncogene 600618 ets variant gene 6 (TEL oncogene) NA 7731705 Standard NM_001987 NM_001987 NA Approved TEL uc001qzz.3 P41212 OTTHUMG00000168538 ENST00000396373.4:c.34-1417G>T chr12.hg19:g.11903967G>T NA A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0 hg19 CCDS8643.1 0.02 8.340034 CAGxATG COVERED NOVEL ETV6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400130.2 1 15.047983 KEEP 0 0 0 50 1696 GG 1 1 0 + 8 60 292 0 0 18.131317 210 60 7858 294 ENST00000396373.4 0.036697 1 LRP6 4040 __UNKNOWN__ __UNKNOWN__ 12 12270290 12270290 __UNKNOWN__ 3'UTR SNP A A G rs2160525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12270290A>G ENST00000261349.4 - 0 8688 BCL2L14_ENST00000396369.1_Intron NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 NA NA anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCATACTCTAAATCAACTATG 0.373 NA G||| 4313 0.861222 0.7806 0.9006 5008 , , NA 18824 0.9206 NA 0.83 False NA ,,, NA NA NA 2504 0.9131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF074264 CCDS8647.1 12p13.2 2013-05-29 ENSG00000070018 ENSG00000070018 4040 Low density lipoprotein receptors 6698 protein-coding gene gene with protein product 603507 NA 9704021 Standard NM_002336 NA Approved ADCAD2 uc001rah.4 O75581 OTTHUMG00000168540 ENST00000261349.4:c.*3770T>C chr12.hg19:g.12270290A>G NA Q17RZ2 hg19 CCDS8647.1 0.02 9.010085 CTAxATC COVERED NOVEL LRP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400137.1 1 10.831421 KEEP 0 0 0 36 1120 AA 0.999999 0.999999 0 - 11 60 410 0 0 26.783593 233 60 8423 342 ENST00000261349.4 0.045082 1 LRP6 4040 __UNKNOWN__ __UNKNOWN__ 12 12291479 12291479 __UNKNOWN__ Intron SNP G G C rs2075241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12291479G>C ENST00000543091.1 - 16 3431 LRP6_ENST00000261349.4_Intron|BCL2L14_ENST00000396369.1_Intron O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 NA NA anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244) cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202) apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CTTGGAAAAGGAGAAAATTCA 0.358 NA G||| 873 0.174321 0.2421 0.1542 5008 , , NA 17925 0.0933 NA 0.1571 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 G 1071,3335 366.4+/-317.8 128,815,1260 72 71 72 2 0 12 dbSNP_96 72 1498,7102 278.2+/-293.3 139,1220,2941 no intron LRP6 NM_002336.2 267,2035,4201 CC,CG,GG 17.4186,24.3078,19.7524 12291479 2569,10437 2203 4300 6503 SO:0001627 intron_variant AF074264 CCDS8647.1 12p13.2 2013-05-29 ENSG00000070018 ENSG00000070018 4040 Low density lipoprotein receptors 6698 protein-coding gene gene with protein product 603507 NA 9704021 Standard NM_002336 NA Approved ADCAD2 uc001rah.4 O75581 OTTHUMG00000168540 ENST00000543091.1:c.3398-11C>G chr12.hg19:g.12291479G>C NA Q17RZ2 hg19 0.02 7.262131 AAGxAGA COVERED NOVEL LRP6-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400140.1 1 7.523524 KEEP 0 0 0 25 840 GG 0.999931 0.999931 0 - 6 60 239 0 0 15.476754 165 60 6163 211 ENST00000543091.1 0.035088 1 MANSC1 54682 __UNKNOWN__ __UNKNOWN__ 12 12483713 12483713 __UNKNOWN__ Silent SNP A A G rs4763282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12483713A>G ENST00000535902.1 - 4 1107 c.544T>C c.(544-546)Ttg>Ctg p.L182L MANSC1_ENST00000545735.1_Silent_p.L101L|MANSC1_ENST00000396349.3_Silent_p.L148L Q9H8J5 MANS1_HUMAN MANSC domain containing 1 182 NA integral component of membrane (GO:0016021) p.L182L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) AGTTTCTCCAAGTGATCTGAG 0.428 NA A||| 2914 0.581869 0.4894 0.6614 5008 , , NA 21284 0.375 NA 0.7306 False NA ,,, NA NA NA 2504 0.7106 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 2313,2093 603.1+/-390.1 595,1123,485 74 75 75 544 2.4 0.6 12 dbSNP_111 75 6493,2107 716.5+/-406.1 2467,1559,274 no coding-synonymous MANSC1 NM_018050.2 3062,2682,759 GG,GA,AA 24.5,47.5034,32.2928 182/432 12483713 8806,4200 2203 4300 6503 SO:0001819 synonymous_variant AK001160 CCDS8648.1 12p13.2 2006-04-12 ENSG00000111261 54682 25505 protein-coding gene gene with protein product NA 12975309 Standard NM_018050 NM_018050 NA Approved FLJ10298, LOH12CR3 uc001rai.1 Q9H8J5 ENST00000535902.1:c.544T>C chr12.hg19:g.12483713A>G NA Q8NEC1|Q9NW60 hg19 CCDS8648.1 0.02 13.287941 CCAxGTG COVERED NOVEL MANSC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400144.1 1 8.859573 KEEP 0 4 139 78 2444 AA 1 1 0 - 11 60 411 0 0 25.339687 324 60 11867 485 ENST00000535902.1 0.032836 1 LOH12CR1 118426 __UNKNOWN__ __UNKNOWN__ 12 12510097 12510097 __UNKNOWN__ 5'UTR SNP C C T rs10772552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12510097C>T ENST00000314565.4 + 0 43 LOH12CR1_ENST00000542728.1_Intron NM_058169.3 NP_477517.1 Q969J3 L12R1_HUMAN loss of heterozygosity, 12, chromosomal region 1 NA NA kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) TGCGGCAAAGCCAGTGTCATC 0.667 NA C||| 1825 0.364417 0.0575 0.5086 5008 , , NA 15604 0.2748 NA 0.5288 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY037865 CCDS8649.1, CCDS73448.1 12p12 2008-07-03 ENSG00000165714 ENSG00000165714 118426 17950 protein-coding gene gene with protein product NA 11896457, 15284860 Standard XR_242885 NA Approved LOH1CR12 uc001ral.2 Q969J3 OTTHUMG00000168542 ENST00000314565.4:c.-289C>T chr12.hg19:g.12510097C>T NA Q96QS5 hg19 CCDS8649.1 0.02 15.253939 AAGxCAG COVERED NOVEL LOH12CR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400150.1 2 73.104081 KEEP 0 2 60 264 9389 CC 1 1 0 + 15 60 511 0 0 30.444534 389 60 14213 827 ENST00000314565.4 0.037129 1 LOH12CR1 118426 __UNKNOWN__ __UNKNOWN__ 12 12618690 12618690 __UNKNOWN__ Missense_Mutation SNP G G A rs3751262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12618690G>A ENST00000314565.4 + 4 902 c.571G>A c.(571-573)Gac>Aac p.D191N LOH12CR1_ENST00000298571.6_Missense_Mutation_p.D143N|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.D172N NM_058169.3 NP_477517.1 Q969J3 L12R1_HUMAN loss of heterozygosity, 12, chromosomal region 1 191 NA D -> N (in dbSNP:rs3751262). kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) CATGAAGCCCGACCGCGAGCT 0.652 NA G||| 331 0.0660942 0.0023 0.0403 5008 , , NA 14317 0.2014 NA 0.0815 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 G ASN/ASP 93,4313 2,89,2112 23 21 22 571 4.7 0.2 12 dbSNP_107 22 749,7851 27,695,3578 yes missense LOH12CR1 NM_058169.3 23 29,784,5690 AA,AG,GG 8.7093,2.1108,6.4739 possibly-damaging 191/197 12618690 842,12164 2203 4300 6503 SO:0001583 missense AY037865 CCDS8649.1, CCDS73448.1 12p12 2008-07-03 ENSG00000165714 ENSG00000165714 118426 17950 protein-coding gene gene with protein product NA 11896457, 15284860 Standard XR_242885 NA Approved LOH1CR12 uc001ral.2 Q969J3 OTTHUMG00000168542 ENST00000314565.4:c.571G>A chr12.hg19:g.12618690G>A ENSP00000321546:p.Asp191Asn NA Q96QS5 hg19 CCDS8649.1 0.02 6.334521 CCCxACC COVERED 207 0.09478021978021978 2 0.0040650406504065045 15 0.04143646408839779 126 0.2202797202797203 64 0.08443271767810026 G 31 5.089759 0.94149 0.021108 0.087093 ENSG00000165714 ENST00000542728;ENST00000314565;ENST00000298571 T;T;T 0.46451 0.87;0.87;0.87 5.55 4.65 0.58169 . 0.299089 0.38897 N 0.001530 T 0.00039 0.0001 L 0.54323 1.7 0.27815 P 0.9419854 P;D 0.65815 0.456;0.995 B;P 0.61800 0.074;0.894 T 0.01218 -1.1415 9 0.36615 T 0.2 -15.5314 14.7556 0.69560 0.0:0.1443:0.8557:0.0 rs3751262;rs16908117;rs59957482;rs3751262 143;191 Q969J3-2;Q969J3 .;L12R1_HUMAN N 172;191;143 ENSP00000443023:D172N;ENSP00000321546:D191N;ENSP00000298571:D143N ENSP00000298571:D143N D + 1 0 LOH12CR1 12509957 1.000000 0.71417 0.180000 0.23079 0.285000 0.27093 9.335000 0.96500 1.323000 0.45263 -0.310000 0.09108 GAC NOVEL LOH12CR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400150.1 0 11.737626 KEEP 0 0 0 39 1327 GG 1 1 0 + 14 60 502 0 0 36.150876 149 60 5161 221 ENST00000314565.4 0.08589 1 LOH12CR1 118426 __UNKNOWN__ __UNKNOWN__ 12 12619126 12619126 __UNKNOWN__ 3'UTR SNP G G A rs150147833|rs3803098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12619126G>A ENST00000314565.4 + 0 1338 NM_058169.3 NP_477517.1 Q969J3 L12R1_HUMAN loss of heterozygosity, 12, chromosomal region 1 NA NA kidney(1)|large_intestine(1)|lung(1)|ovary(1) 4 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.0205) TTTTCAGTAGGCTGTCTGGTT 0.413 NA 339 0.0676917 0.0023 0.0403 5008 , , NA 17344 0.2093 NA 0.0815 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY037865 CCDS8649.1, CCDS73448.1 12p12 2008-07-03 ENSG00000165714 ENSG00000165714 118426 17950 protein-coding gene gene with protein product NA 11896457, 15284860 Standard XR_242885 NA Approved LOH1CR12 uc001ral.2 Q969J3 OTTHUMG00000168542 ENST00000314565.4:c.*416G>A chr12.hg19:g.12619126G>A NA Q96QS5 hg19 CCDS8649.1 0.02 8.602157 TAGxCTG COVERED NOVEL LOH12CR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400150.1 2 12.941924 KEEP 0 0 0 43 1520 GG 1 1 0 + 12 60 426 0 0 28.341723 199 60 7293 297 ENST00000314565.4 0.056872 1 DUSP16 80824 __UNKNOWN__ __UNKNOWN__ 12 12633360 12633360 __UNKNOWN__ Intron SNP G G C rs78272409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12633360G>C ENST00000228862.2 - 6 1323 DUSP16_ENST00000545864.1_Intron|DUSP16_ENST00000298573.4_Intron NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 NA NA dephosphorylation (GO:0016311)|inactivation of MAPK activity (GO:0000188)|MAPK export from nucleus (GO:0045204)|MAPK phosphatase export from nucleus, leptomycin B sensitive (GO:0045209)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634) MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) TACTTACTCAGTGTCTTCCAC 0.383 NA G||| 303 0.0605032 0.0023 0.0418 5008 , , NA 19735 0.1756 NA 0.0805 False NA ,,, NA NA NA 2504 0.0133 NA NA NA Ovarian(158;443 1896 15437 36069 46477) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB052156 CCDS8650.1 12p13 2011-06-09 ENSG00000111266 80824 Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases 17909 protein-coding gene gene with protein product MAPK phosphatase-7 607175 NA 11359773, 11489891, 15888437 Standard NM_030640 NM_030640 NA Approved MKP-7, KIAA1700, MKP7 uc001rao.2 Q9BY84 ENST00000228862.2:c.692-80C>G chr12.hg19:g.12633360G>C NA Q547C7|Q96QS2|Q9C0G3 hg19 CCDS8650.1 0.02 4.562945 TCAxTGT COVERED NOVEL DUSP16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400311.1 0 3.912069 KEEP 0 0 0 13 434 GG 0.994391 0.994372 0 - 6 60 227 0 0 15.602677 98 60 3651 125 ENST00000228862.2 0.057692 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 12878707 12878707 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:12878707C>T NA NA RP11-180M15.4 (1762 upstream) : APOLD1 (157 downstream) NA NA NA TGCTTGTTTTCTTGTAAAAAA 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.12878707C>T NA hg19 0.02 -0.435323 TTTxTTG COVERED NOVEL 0 1 3.592479 KEEP 0 0 0 12 343 CC 0.993634 0.953748 0 10 60 164 0 0 10.591181 38 60 1175 65 0.208333 0.959859 EMP1 2012 __UNKNOWN__ __UNKNOWN__ 12 13367913 13367913 __UNKNOWN__ 3'UTR SNP G G C rs57151560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:13367913G>C ENST00000431267.2 + 0 737 EMP1_ENST00000537612.1_Intron|EMP1_ENST00000256951.5_3'UTR|EMP1_ENST00000542289.1_Intron P54849 EMP1_HUMAN epithelial membrane protein 1 NA NA cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) NA Prostate(47;0.194) BRCA - Breast invasive adenocarcinoma(232;0.153) GACACACACTGTCTGGGGCCC 0.542 NA G||| 221 0.0441294 0.0 0.0 5008 , , NA 12534 0.2063 NA 0.003 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U43916 CCDS8660.1 12p12.3 2008-08-04 ENSG00000134531 2012 3333 protein-coding gene gene with protein product 602333 NA 8996089, 9126480 Standard NM_001423 NM_001423 NA Approved TMP, CL-20 uc001rbr.3 P54849 ENST00000431267.2:c.*288G>C chr12.hg19:g.13367913G>C NA B2R5N1|B4DRR1|O00681|Q13481|Q13834 hg19 0.02 7.341619 ACTxTCT COVERED NOVEL EMP1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401020.1 1 14.746732 KEEP 0 0 0 49 1679 GG 1 1 0 + 7 60 261 0 0 16.923561 155 60 5695 251 ENST00000431267.2 0.04321 1 GRIN2B 2904 __UNKNOWN__ __UNKNOWN__ 12 13717508 13717508 __UNKNOWN__ Silent SNP G G A rs1806201 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:13717508G>A ENST00000609686.1 - 13 2873 c.2664C>T c.(2662-2664)acC>acT p.T888T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 888 NA T -> P (in Ref. 5; AAA69920/AAA74930). {ECO:0000305}. behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) TCATGGTTGCGGTGGGGGAGT 0.572 NA G||| 1519 0.303315 0.0703 0.3213 5008 , , NA 19555 0.5208 NA 0.2783 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 GRCh37 CM074898 GRIN2B M rs1806201 G 476,3930 220.7+/-238.1 32,412,1759 127 114 118 2664 -10.6 0.4 12 dbSNP_92 118 2357,6243 381.0+/-339.9 345,1667,2288 no coding-synonymous GRIN2B NM_000834.3 377,2079,4047 AA,AG,GG 27.407,10.8034,21.7823 888/1485 13717508 2833,10173 2203 4300 6503 SO:0001819 synonymous_variant CCDS8662.1 12p13.1 2014-07-16 ENSG00000273079 2904 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4586 protein-coding gene gene with protein product 138252 NMDAR2B NA 1350383 Standard NM_000834 NA Approved GluN2B uc001rbt.2 Q13224 OTTHUMG00000137373 ENST00000609686.1:c.2664C>T chr12.hg19:g.13717508G>A NA Q12919|Q13220|Q13225|Q14CU4|Q9UM56 hg19 CCDS8662.1 0.02 10.208842 TGCxGTG COVERED NOVEL GRIN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268014.2 2 9.029321 KEEP 0 0 0 30 1054 GG 0.999997 0.999997 0 - 11 60 394 0 0 24.182487 289 60 10351 389 ENST00000609686.1 0.036667 1 GRIN2B 2904 __UNKNOWN__ __UNKNOWN__ 12 14019128 14019128 __UNKNOWN__ Silent SNP C C T rs34315573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:14019128C>T ENST00000609686.1 - 2 224 c.15G>A c.(13-15)gcG>gcA p.A5A NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 5 NA behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) AACAGCACTCCGCTCTGGGCT 0.522 NA C||| 292 0.0583067 0.0023 0.0202 5008 , , NA 19998 0.1399 NA 0.0368 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 C 40,4366 40.8+/-73.8 0,40,2163 38 42 41 15 -5.8 0.9 12 dbSNP_126 41 278,8320 104.4+/-165.4 2,274,4023 no coding-synonymous GRIN2B NM_000834.3 2,314,6186 TT,TC,CC 3.2333,0.9079,2.4454 5/1485 14019128 318,12686 2203 4299 6502 SO:0001819 synonymous_variant CCDS8662.1 12p13.1 2014-07-16 ENSG00000273079 2904 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4586 protein-coding gene gene with protein product 138252 NMDAR2B NA 1350383 Standard NM_000834 NA Approved GluN2B uc001rbt.2 Q13224 OTTHUMG00000137373 ENST00000609686.1:c.15G>A chr12.hg19:g.14019128C>T NA Q12919|Q13220|Q13225|Q14CU4|Q9UM56 hg19 CCDS8662.1 0.02 28.184185 CTCxGCT COVERED NOVEL GRIN2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268014.2 4 19.260764 KEEP 0 0 0 64 2160 CC 1 1 0 - 33 60 1267 0 0 85.875406 613 60 21683 863 ENST00000609686.1 0.051084 1 PLBD1 79887 __UNKNOWN__ __UNKNOWN__ 12 14680320 14680320 __UNKNOWN__ Intron SNP A A C rs11056011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:14680320A>C ENST00000240617.5 - 6 1497 NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|lysosome (GO:0005764) hydrolase activity (GO:0016787) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 ATCTGTTACTAGTACCATCTT 0.358 NA A||| 1744 0.348243 0.174 0.2075 5008 , , NA 17805 0.5893 NA 0.4056 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000909 CCDS31751.1 12p13.1 2013-10-11 ENSG00000121316 ENSG00000121316 79887 26215 protein-coding gene gene with protein product PLB homolog 1 (Dictyostelium) NA 15193148, 19019078 Standard NM_024829 NM_024829 NA Approved FLJ22662 uc001rcc.1 Q6P4A8 OTTHUMG00000168821 ENST00000240617.5:c.844+8272T>G chr12.hg19:g.14680320A>C NA A8K4E9|Q9BVV3|Q9H625 hg19 CCDS31751.1 0.02 4.98412 ACTxGTA COVERED NOVEL PLBD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401203.1 1 3.911151 KEEP 1 0 0 13 394 AA 0.993634 0.993634 0 - 13 60 418 0 0 28.507074 145 60 5345 171 ENST00000240617.5 0.082278 1 PLBD1 79887 __UNKNOWN__ __UNKNOWN__ 12 14721203 14721203 __UNKNOWN__ 5'UTR SNP T T G rs3811174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:14721203T>G ENST00000240617.5 - 0 80 RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|lysosome (GO:0005764) hydrolase activity (GO:0016787) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 TAGCTCAGATTTTTTATCCTT 0.512 NA T||| 1766 0.352636 0.177 0.2118 5008 , , NA 19037 0.6032 NA 0.4115 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC000909 CCDS31751.1 12p13.1 2013-10-11 ENSG00000121316 ENSG00000121316 79887 26215 protein-coding gene gene with protein product PLB homolog 1 (Dictyostelium) NA 15193148, 19019078 Standard NM_024829 NM_024829 NA Approved FLJ22662 uc001rcc.1 Q6P4A8 OTTHUMG00000168821 ENST00000240617.5:c.-573A>C chr12.hg19:g.14721203T>G NA A8K4E9|Q9BVV3|Q9H625 hg19 CCDS31751.1 0.02 12.047756 GATxTTT COVERED NOVEL PLBD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401203.1 2 18.054831 KEEP 0 0 0 60 1923 TT 1 1 0 - 15 60 551 0 0 37.380366 245 60 8845 387 ENST00000240617.5 0.057692 1 RERG 85004 __UNKNOWN__ __UNKNOWN__ 12 15262179 15262179 __UNKNOWN__ Silent SNP G G A rs1055151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:15262179G>A ENST00000256953.2 - 5 801 c.465C>T c.(463-465)aaC>aaT p.N155N RERG_ENST00000538313.1_Silent_p.N155N|RERG_ENST00000546331.1_Silent_p.N136N|RERG_ENST00000536465.1_Silent_p.N155N NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 155 NA negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 TCTCTGTGATGTTCCCTTCTC 0.547 NA G||| 1229 0.245407 0.115 0.2478 5008 , , NA 18500 0.3016 NA 0.3012 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 G , 644,3762 278.7+/-274.4 42,560,1601 154 134 140 408,465 -2 0.9 12 dbSNP_86 140 2617,5983 424.1+/-354.6 400,1817,2083 no coding-synonymous,coding-synonymous RERG NM_001190726.1,NM_032918.2 , 442,2377,3684 AA,AG,GG 30.4302,14.6164,25.073 , 136/181,155/200 15262179 3261,9745 2203 4300 6503 SO:0001819 synonymous_variant AF339750 CCDS8673.1, CCDS53753.1 12p13.1 2014-05-09 ENSG00000134533 ENSG00000134533 85004 15980 protein-coding gene gene with protein product 612664 NA 11533059 Standard NM_032918 NM_032918 NA Approved MGC15754 uc001rct.3 Q96A58 OTTHUMG00000168745 ENST00000256953.2:c.465C>T chr12.hg19:g.15262179G>A NA B2R9R0|B4DI02 hg19 CCDS8673.1 0.02 5.898705 GATxTTC COVERED NOVEL RERG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400882.1 2 9.630856 KEEP 0 0 0 32 1113 GG 0.999997 0.999997 0 - 9 60 317 0 0 20.2728 181 60 6730 267 ENST00000256953.2 0.047368 1 DERA 51071 __UNKNOWN__ __UNKNOWN__ 12 16189694 16189694 __UNKNOWN__ 3'UTR SNP T T A rs2290979 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:16189694T>A ENST00000428559.2 + 0 1183 DERA_ENST00000526530.1_3'UTR NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) NA NA deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) deoxyribose-phosphate aldolase activity (GO:0004139) endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) AGTCACCAGTTCCAGAAAAGT 0.318 NA T||| 696 0.138978 0.0265 0.0303 5008 , , NA 15357 0.3849 NA 0.0557 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 T 90,3542 2,86,1728 77 69 72 2.7 0 12 dbSNP_100 72 371,7775 10,351,3712 no utr-3 DERA NM_015954.2 12,437,5440 AA,AT,TT 4.5544,2.478,3.9141 16189694 461,11317 1816 4073 5889 SO:0001624 3_prime_UTR_variant AF132960 CCDS44838.1, CCDS73451.1 12p12.3 2010-06-24 2010-06-24 ENSG00000023697 ENSG00000023697 51071 4.1.2.4 24269 protein-coding gene gene with protein product 2-deoxyribose-5-phosphate aldolase homolog (C. elegans) NA 12546782 Standard NM_015954 XM_006719083 NA Approved CGI-26, DEOC uc001rde.3 Q9Y315 OTTHUMG00000165537 ENST00000428559.2:c.*14T>A chr12.hg19:g.16189694T>A NA Q53HN9|Q6PHW2 hg19 CCDS44838.1 0.02 9.827959 AGTxCCA COVERED NOVEL DERA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384731.1 0 12.036484 KEEP 0 0 0 40 1273 TT 1 1 0 + 8 60 288 0 0 16.632653 290 60 10442 416 ENST00000428559.2 0.026846 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 16667813 16667813 __UNKNOWN__ IGR SNP G G A rs79191525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:16667813G>A NA NA MGST1 (76118 upstream) : LMO3 (33493 downstream) NA NA NA GGAACATTGTGGCTCTAAACA 0.408 NA G||| 23 0.00459265 0.0 0.0 5008 , , NA 21004 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.16667813G>A NA hg19 0.02 6.698605 TGTxGCT COVERED NOVEL 0 0 5.417307 KEEP 0 0 0 18 617 GG 0.99986 0.99986 0 10 60 317 0 0 20.10465 157 60 5729 218 0.05988 1 RERGL 79785 __UNKNOWN__ __UNKNOWN__ 12 18237531 18237531 __UNKNOWN__ Missense_Mutation SNP G G T rs191143010 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:18237531G>T ENST00000538724.1 - 4 300 c.252C>A c.(250-252)gaC>gaA p.D84E RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000536890.1_Intron|RERGL_ENST00000229002.2_Missense_Mutation_p.D85E Q9H628 RERGL_HUMAN RERG/RAS-like 85 Small GTPase-like. NA GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) membrane (GO:0016020) GTP binding (GO:0005525) endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TATCACTGATGTCATACACAA 0.398 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 16363 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 157 150 152 NA NA 12 NA 18237531 2203 4300 6503 SO:0001583 missense AK026308 CCDS8679.1, CCDS66332.1 12p12.3 2014-08-12 ENSG00000111404 ENSG00000111404 79785 26213 protein-coding gene gene with protein product NA 24127187 Standard NM_024730 NM_001286201 NA Approved FLJ22655 uc001rdq.3 Q9H628 OTTHUMG00000168820 ENST00000538724.1:c.252C>A chr12.hg19:g.18237531G>T ENSP00000437814:p.Asp84Glu NA hg19 0.02 30.932413 GATxTCA COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 18.94 3.729580 0.69074 . . ENSG00000111404 ENST00000229002;ENST00000538724 D;D 0.87103 -2.21;-2.21 4.79 0.863 0.19062 . 0.153144 0.64402 D 0.000017 D 0.93423 0.7902 H 0.95365 3.66 0.80722 D 1 P;D 0.64830 0.564;0.994 P;P 0.62298 0.467;0.9 D 0.91610 0.5302 10 0.72032 D 0.01 . 8.2084 0.31469 0.3225:0.0:0.6775:0.0 . 84;85 F5H686;Q9H628 .;RERGL_HUMAN E 85;84 ENSP00000229002:D85E;ENSP00000437814:D84E ENSP00000229002:D85E D - 3 2 RERGL 18128798 1.000000 0.71417 0.998000 0.56505 0.993000 0.82548 3.147000 0.50639 0.044000 0.15775 0.467000 0.42956 GAC NOVEL RERGL-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000401199.1 3 26.185234 KEEP 0 0 0 87 3101 GG 1 1 0 - 22 60 798 0 0 46.606531 775 60 29702 1086 ENST00000538724.1 0.027604 1 PLEKHA5 54477 __UNKNOWN__ __UNKNOWN__ 12 19441055 19441055 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:19441055T>G ENST00000429027.2 + 13 1895 PLEKHA5_ENST00000510738.2_Intron|PLEKHA5_ENST00000309364.4_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000317589.4_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000299275.6_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000539256.1_Intron NM_001256470.1 NP_001243399.1 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 NA NA reproductive system development (GO:0061458) cytosol (GO:0005829)|membrane (GO:0016020) 1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ATGAACTAGGTGGGTTTCTTT 0.378 NA NA NA NA NA NA NA NA NA NA Pancreas(196;329 2193 11246 14234 19524) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF302150 CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1 12p12 2013-01-10 ENSG00000052126 ENSG00000052126 54477 Pleckstrin homology (PH) domain containing 30036 protein-coding gene gene with protein product 607770 NA 11214970, 11001876 Standard NM_019012 NM_001143821 NA Approved PEPP2, KIAA1686, FLJ10667 uc031qgo.1 Q9HAU0 OTTHUMG00000167921 ENST00000429027.2:c.1863+565T>G chr12.hg19:g.19441055T>G NA A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8 hg19 CCDS58213.1 0.02 1.17862 AGGxGGG COVERED NOVEL PLEKHA5-004 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397012.1 3 2.295822 KEEP 0 3 45 24 692 TT 0.999988 0.999895 0 + 16 70 192 0 0 8.975636 77 60 2475 160 ENST00000429027.2 0.172043 0.999907 PDE3A 5139 __UNKNOWN__ __UNKNOWN__ 12 20803549 20803549 __UNKNOWN__ Intron SNP T T C rs10743384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:20803549T>C ENST00000359062.3 + 14 2965 PDE3A_ENST00000544307.1_Intron NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493) cytosol (GO:0005829)|integral component of membrane (GO:0016021) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811) CTGACCACTGTTTAATACAGC 0.348 NA T||| 2703 0.539736 0.3192 0.4813 5008 , , NA 17105 0.7242 NA 0.6372 False NA ,,, NA NA NA 2504 0.589 NA NA NA NA 0 T 1657,2749 498.4+/-364.1 301,1055,847 83 79 81 -1.1 0 12 dbSNP_120 81 5274,3326 640.5+/-399.6 1616,2042,642 no intron PDE3A NM_000921.4 1917,3097,1489 CC,CT,TT 38.6744,37.6078,46.7092 20803549 6931,6075 2203 4300 6503 SO:0001627 intron_variant CCDS31754.1 12p12.2 2011-04-15 ENSG00000172572 ENSG00000172572 5139 3.1.4.17 Phosphodiesterases 8778 protein-coding gene gene with protein product 123805 NA 1315035, 10679291 Standard NM_000921 NA Approved CGI-PDE uc001reh.2 Q14432 OTTHUMG00000168962 ENST00000359062.3:c.2925+15T>C chr12.hg19:g.20803549T>C NA O60865|Q13348|Q17RD1 hg19 CCDS31754.1 0.02 5.07108 CTGxTTA COVERED NOVEL PDE3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401756.2 0 4.794866 KEEP 0 0 0 16 501 TT 0.997832 0.997809 0 + 7 60 271 0 0 19.333295 96 60 3450 135 ENST00000359062.3 0.067961 0.999978 PDE3A 5139 __UNKNOWN__ __UNKNOWN__ 12 20836856 20836856 __UNKNOWN__ 3'UTR SNP A A G rs14083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:20836856A>G ENST00000359062.3 + 0 7117 NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited NA NA blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493) cytosol (GO:0005829)|integral component of membrane (GO:0016021) 3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811) TTAATTTGCAATTTCCCCATA 0.358 NA G||| 3616 0.722045 0.736 0.549 5008 , , NA 13583 0.8115 NA 0.7187 False NA ,,, NA NA NA 2504 0.7372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31754.1 12p12.2 2011-04-15 ENSG00000172572 ENSG00000172572 5139 3.1.4.17 Phosphodiesterases 8778 protein-coding gene gene with protein product 123805 NA 1315035, 10679291 Standard NM_000921 NA Approved CGI-PDE uc001reh.2 Q14432 OTTHUMG00000168962 ENST00000359062.3:c.*3651A>G chr12.hg19:g.20836856A>G NA O60865|Q13348|Q17RD1 hg19 CCDS31754.1 0.02 12.391617 GCAxTTT COVERED NOVEL PDE3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401756.2 1 15.648555 KEEP 0 0 0 52 1688 AA 1 1 0 + 14 60 544 0 0 37.505488 242 60 8836 397 ENST00000359062.3 0.054687 1 RP11-125O5.2 0 __UNKNOWN__ __UNKNOWN__ 12 21245380 21245380 __UNKNOWN__ Intron SNP G G T rs11045748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21245380G>T ENST00000590779.1 + 3 226 NA NA NA ttttgtggccgaatggagttc 0.333 NA G||| 528 0.105431 0.2307 0.0288 5008 , , NA 19167 0.1022 NA 0.0636 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000590779.1:c.226+15877G>T chr12.hg19:g.21245380G>T NA hg19 0.02 19.629573 GCCxAAT COVERED NOVEL RP11-125O5.2-004 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000453528.1 1 12.940466 KEEP 0 0 0 43 1433 GG 1 1 0 + 14 60 522 0 0 31.786677 438 60 14835 574 ENST00000590779.1 0.030973 1 SLCO1B1 10599 __UNKNOWN__ __UNKNOWN__ 12 21317791 21317791 __UNKNOWN__ Intron SNP C C T rs4149032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21317791C>T ENST00000256958.2 + 3 180 NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661) cataacattacaaacttatgg 0.303 NA T||| 2683 0.535743 0.7345 0.3919 5008 , , NA 18916 0.5962 NA 0.34 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 T 1142,600 384,374,113 12 15 14 -1.3 0 12 dbSNP_110 14 1350,2624 246,858,883 yes intron SLCO1B1 NM_006446.4 630,1232,996 TT,TC,CC 33.9708,34.4432,43.5969 21317791 2492,3224 871 1987 2858 SO:0001627 intron_variant CCDS8685.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000134538 ENSG00000134538 10599 Solute carriers 10959 protein-coding gene gene with protein product 604843 solute carrier family 21 (organic anion transporter), member 6 SLC21A6 NA 10358072 Standard NM_006446 NM_006446 NA Approved OATP-C, LST-1, OATP1B1 uc001req.4 Q9Y6L6 OTTHUMG00000169047 ENST00000256958.2:c.85-7793C>T chr12.hg19:g.21317791C>T NA B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89 hg19 CCDS8685.1 0.02 4.291234 TTAxAAA COVERED NOVEL SLCO1B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402070.1 1 3.912779 KEEP 0 0 0 13 462 CC 0.994391 0.994391 0 + 8 60 295 0 0 20.134128 127 60 4740 173 ENST00000256958.2 0.059259 1 SLCO1B1 10599 __UNKNOWN__ __UNKNOWN__ 12 21317922 21317922 __UNKNOWN__ Intron SNP G G A rs4149034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21317922G>A ENST00000256958.2 + 3 180 NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661) ctgTTCCTCTGTACCTGCCTC 0.343 NA A||| 2503 0.4998 0.6815 0.3818 5008 , , NA 19121 0.5962 NA 0.34 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8685.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000134538 ENSG00000134538 10599 Solute carriers 10959 protein-coding gene gene with protein product 604843 solute carrier family 21 (organic anion transporter), member 6 SLC21A6 NA 10358072 Standard NM_006446 NM_006446 NA Approved OATP-C, LST-1, OATP1B1 uc001req.4 Q9Y6L6 OTTHUMG00000169047 ENST00000256958.2:c.85-7662G>A chr12.hg19:g.21317922G>A NA B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89 hg19 CCDS8685.1 0.02 6.621216 TCTxTAC COVERED NOVEL SLCO1B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402070.1 1 6.019803 KEEP 0 0 0 20 716 GG 0.999863 0.999863 0 + 8 60 290 0 0 19.187484 145 60 5465 208 ENST00000256958.2 0.052288 1 SLCO1B1 10599 __UNKNOWN__ __UNKNOWN__ 12 21358877 21358877 __UNKNOWN__ Silent SNP A A G rs374859808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21358877A>G ENST00000256958.2 + 11 1503 c.1407A>G c.(1405-1407)caA>caG p.Q469Q NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 469 Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}. NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium-independent organic anion transmembrane transporter activity (GO:0015347) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661) ATGAAAGTCAATGGGAACCAG 0.363 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 17166 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 137 135 135 NA NA 12 NA 21358877 2203 4300 6503 SO:0001819 synonymous_variant CCDS8685.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000134538 ENSG00000134538 10599 Solute carriers 10959 protein-coding gene gene with protein product 604843 solute carrier family 21 (organic anion transporter), member 6 SLC21A6 NA 10358072 Standard NM_006446 NM_006446 NA Approved OATP-C, LST-1, OATP1B1 uc001req.4 Q9Y6L6 OTTHUMG00000169047 ENST00000256958.2:c.1407A>G chr12.hg19:g.21358877A>G NA B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89 hg19 CCDS8685.1 0.02 7.200622 TCAxTGG COVERED NOVEL SLCO1B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402070.1 1 4.213234 KEEP 0 0 0 14 461 AA 0.995343 0.995343 0 + 9 60 357 0 0 24.523051 169 60 6201 237 ENST00000256958.2 0.050562 1 SLCO1A2 6579 __UNKNOWN__ __UNKNOWN__ 12 21417908 21417908 __UNKNOWN__ 3'UTR SNP T T C rs10841779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21417908T>C ENST00000307378.6 - 0 7307 SLCO1A2_ENST00000452078.1_3'UTR NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) organic anion transmembrane transporter activity (GO:0008514) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661) ATGATGCAGATTGGTTTAGGG 0.522 NA T||| 722 0.144169 0.1445 0.0303 5008 , , NA 17835 0.3651 NA 0.0209 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8686.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000084453 ENSG00000084453 6579 Solute carriers 10956 protein-coding gene gene with protein product 602883 solute carrier family 21 (organic anion transporter), member 3 SLC21A3 NA 9007731 Standard NM_021094 NM_134431 NA Approved OATP, OATP1A2, OATP-A uc001rer.3 P46721 OTTHUMG00000156259 ENST00000307378.6:c.*4574A>G chr12.hg19:g.21417908T>C NA Q9UGP7|Q9UL38 hg19 CCDS8686.1 0.02 7.15194 AGAxTGG COVERED NOVEL SLCO1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343648.3 0 6.317305 KEEP 0 0 0 21 628 TT 0.999869 0.999869 0 - 7 60 240 0 0 14.574529 186 60 6647 245 ENST00000307378.6 0.036269 1 SLCO1A2 6579 __UNKNOWN__ __UNKNOWN__ 12 21418143 21418143 __UNKNOWN__ 3'UTR SNP C C T rs10841780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21418143C>T ENST00000307378.6 - 0 7072 SLCO1A2_ENST00000452078.1_3'UTR NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) organic anion transmembrane transporter activity (GO:0008514) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661) TTTTCACCTGCTACCATTACA 0.428 NA C||| 746 0.148962 0.1543 0.036 5008 , , NA 21100 0.3651 NA 0.0249 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8686.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000084453 ENSG00000084453 6579 Solute carriers 10956 protein-coding gene gene with protein product 602883 solute carrier family 21 (organic anion transporter), member 3 SLC21A3 NA 9007731 Standard NM_021094 NM_134431 NA Approved OATP, OATP1A2, OATP-A uc001rer.3 P46721 OTTHUMG00000156259 ENST00000307378.6:c.*4339G>A chr12.hg19:g.21418143C>T NA Q9UGP7|Q9UL38 hg19 CCDS8686.1 0.02 5.543441 CTGxTAC COVERED NOVEL SLCO1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343648.3 1 4.214047 KEEP 0 0 0 14 525 CC 0.995343 0.995343 0 - 6 60 215 0 0 12.873021 179 60 6795 233 ENST00000307378.6 0.032432 1 SLCO1A2 6579 __UNKNOWN__ __UNKNOWN__ 12 21421255 21421255 __UNKNOWN__ 3'UTR SNP C C T rs4149007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21421255C>T ENST00000307378.6 - 0 3960 SLCO1A2_ENST00000452078.1_3'UTR NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) organic anion transmembrane transporter activity (GO:0008514) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661) TTATAGTACACATAAATAACC 0.403 NA C||| 784 0.15655 0.1475 0.0576 5008 , , NA 17367 0.3631 NA 0.0497 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8686.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000084453 ENSG00000084453 6579 Solute carriers 10956 protein-coding gene gene with protein product 602883 solute carrier family 21 (organic anion transporter), member 3 SLC21A3 NA 9007731 Standard NM_021094 NM_134431 NA Approved OATP, OATP1A2, OATP-A uc001rer.3 P46721 OTTHUMG00000156259 ENST00000307378.6:c.*1227G>A chr12.hg19:g.21421255C>T NA Q9UGP7|Q9UL38 hg19 CCDS8686.1 0.02 4.103456 ACAxATA COVERED NOVEL SLCO1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343648.3 1 6.019476 KEEP 0 0 0 20 704 CC 0.999863 0.999863 0 - 7 60 263 0 0 17.463807 138 60 5262 192 ENST00000307378.6 0.048276 1 SLCO1A2 6579 __UNKNOWN__ __UNKNOWN__ 12 21421770 21421770 __UNKNOWN__ 3'UTR SNP G G T rs4149006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21421770G>T ENST00000307378.6 - 0 3445 SLCO1A2_ENST00000452078.1_3'UTR NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) organic anion transmembrane transporter activity (GO:0008514) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661) ACACTTGTTTGTAAGAAAAAC 0.313 NA T||| 1100 0.219649 0.1884 0.1153 5008 , , NA 15390 0.3661 NA 0.1531 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8686.1 12p12 2013-05-22 2003-11-25 2003-11-26 ENSG00000084453 ENSG00000084453 6579 Solute carriers 10956 protein-coding gene gene with protein product 602883 solute carrier family 21 (organic anion transporter), member 3 SLC21A3 NA 9007731 Standard NM_021094 NM_134431 NA Approved OATP, OATP1A2, OATP-A uc001rer.3 P46721 OTTHUMG00000156259 ENST00000307378.6:c.*712C>A chr12.hg19:g.21421770G>T NA Q9UGP7|Q9UL38 hg19 CCDS8686.1 0.02 8.07925 TTTxTAA COVERED NOVEL SLCO1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000343648.3 1 7.524734 KEEP 0 0 0 25 899 GG 0.999931 0.999931 0 - 8 60 289 0 0 17.720017 217 60 8220 294 ENST00000307378.6 0.035556 1 C12orf39 0 __UNKNOWN__ __UNKNOWN__ 12 21684029 21684029 __UNKNOWN__ Intron SNP G G A rs3765093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:21684029G>A ENST00000256969.2 + 6 458 C12orf39_ENST00000543800.1_Intron NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN NA NA long-chain fatty acid import (GO:0044539)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of renal sodium excretion (GO:0035814)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of sensory perception of pain (GO:0051930) cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615) neuropeptide hormone activity (GO:0005184)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766) endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 CTATTAAAACGCAGAGTGTAT 0.308 NA a||| 2071 0.413538 0.68 0.3429 5008 , , NA 14465 0.256 NA 0.4175 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 - 2580,1632 830,920,356 12 14 13 -1 0 12 dbSNP_107 13 3336,4932 748,1840,1546 no intron C12orf39 NM_030572.2 1578,2760,1902 AA,AG,GG 40.3483,38.7464,47.4038 21684029 5916,6564 2106 4134 6240 SO:0001627 intron_variant NA NA NA NA ENST00000256969.2:c.293-42G>A chr12.hg19:g.21684029G>A NA B3KND6 hg19 CCDS31757.1 0.02 4.246287 AACxCAG COVERED NOVEL C12orf39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402389.1 0 4.513901 KEEP 0 0 0 15 482 GG 0.99649 0.996477 0 + 6 60 222 0 0 15.052712 100 60 3191 123 ENST00000256969.2 0.056604 0.999987 ABCC9 10060 __UNKNOWN__ __UNKNOWN__ 12 22035883 22035883 __UNKNOWN__ Intron SNP T T G rs1283802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22035883T>G ENST00000261200.4 - 14 1911 ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Intron NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NA NA defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glyburide(DB01016) CTTACTCACATTGCTACCTAA 0.289 NA T||| 2113 0.421925 0.6959 0.2795 5008 , , NA 16111 0.4812 NA 0.2266 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 GRCh37 CS035710 ABCC9 S rs1283802 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF061323 CCDS8693.1, CCDS8694.1 12p12.1 2014-09-17 ENSG00000069431 ENSG00000069431 10060 ATP binding cassette transporters / subfamily C 60 protein-coding gene gene with protein product sulfonylurea receptor 2 601439 NA 9457174, 15034580 Standard NM_005691 NM_020297 NA Approved SUR2, CMD1O uc001rfh.3 O60706 OTTHUMG00000169094 ENST00000261200.4:c.1912-76A>C chr12.hg19:g.22035883T>G NA O60707 hg19 CCDS8693.1 0.02 6.302648 ACAxTGC COVERED NOVEL ABCC9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402228.1 2 10.832939 KEEP 0 0 0 36 1155 TT 0.999999 0.999999 0 - 6 60 221 0 0 13.57411 172 60 6048 232 ENST00000261200.4 0.033708 1 ABCC9 10060 __UNKNOWN__ __UNKNOWN__ 12 22089432 22089432 __UNKNOWN__ Intron SNP T T G rs17846791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22089432T>G ENST00000261200.4 - 1 142 ABCC9_ENST00000345162.2_Intron|ABCC9_ENST00000326684.4_Intron|ABCC9_ENST00000538350.1_Intron|ABCC9_ENST00000261201.4_Intron NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 NA NA defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glyburide(DB01016) TATATAAACATCAAATGGTAT 0.353 NA T||| 26 0.00519169 0.0 0.0 5008 , , NA 18777 0.0258 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 49 47 48 NA NA 12 NA 22089432 2203 4298 6501 SO:0001627 intron_variant AF061323 CCDS8693.1, CCDS8694.1 12p12.1 2014-09-17 ENSG00000069431 ENSG00000069431 10060 ATP binding cassette transporters / subfamily C 60 protein-coding gene gene with protein product sulfonylurea receptor 2 601439 NA 9457174, 15034580 Standard NM_005691 NM_020297 NA Approved SUR2, CMD1O uc001rfh.3 O60706 OTTHUMG00000169094 ENST00000261200.4:c.142+34A>C chr12.hg19:g.22089432T>G NA O60707 hg19 CCDS8693.1 0.02 3.886684 ACAxCAA COVERED NOVEL ABCC9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402228.1 2 6.316482 KEEP 0 0 0 21 607 TT 0.999869 0.999869 0 - 6 60 227 0 0 14.679845 141 60 5026 171 ENST00000261200.4 0.040816 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 22161969 22161969 __UNKNOWN__ IGR SNP G G T rs16915844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22161969G>T NA NA ABCC9 (67633 upstream) : CMAS (37138 downstream) NA NA NA GGAGGATTCAGTTTCCATCTT 0.478 NA g||| 929 0.185503 0.0242 0.2133 5008 , , NA 19462 0.3234 NA 0.2485 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.22161969G>T NA hg19 0.02 7.814819 TCAxTTT COVERED NOVEL 0 1 8.126546 KEEP 0 0 0 27 968 GG 0.999988 0.999988 0 8 60 282 0 0 17.084897 213 60 7981 293 0.036199 1 ST8SIA1 6489 __UNKNOWN__ __UNKNOWN__ 12 22440281 22440281 __UNKNOWN__ Intron SNP A A T rs2287166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22440281A>T ENST00000396037.4 - 2 718 ST8SIA1_ENST00000539510.1_Intron NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 TGAGGAGCAGATTCATTCACT 0.453 NA A||| 1296 0.258786 0.3147 0.219 5008 , , NA 17360 0.1885 NA 0.2982 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L32867 CCDS8697.1 12p12.1-p11.2 2013-03-01 2003-01-14 2005-02-07 ENSG00000111728 ENSG00000111728 6489 2.4.99.8 Sialyltransferases 10869 protein-coding gene gene with protein product ST8Sia I 601123 sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A SIAT8, SIAT8A NA 7901202 Standard NM_003034 NM_003034 NA Approved uc001rfo.4 Q92185 OTTHUMG00000169098 ENST00000396037.4:c.237-54T>A chr12.hg19:g.22440281A>T NA A8K4H6|Q17RL0|Q6PZN5|Q93064 hg19 CCDS8697.1 0.02 4.335417 CAGxTTC COVERED NOVEL ST8SIA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402245.2 1 10.831321 KEEP 0 0 0 36 1122 AA 0.999999 0.999999 0 - 9 60 315 0 0 21.595095 121 60 4421 195 ENST00000396037.4 0.069231 1 ST8SIA1 6489 __UNKNOWN__ __UNKNOWN__ 12 22440315 22440315 __UNKNOWN__ Intron SNP A A G rs386761140|rs2072542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22440315A>G ENST00000396037.4 - 2 718 ST8SIA1_ENST00000539510.1_Intron NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503) integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 GAGATGTGCCACCTTACCTCA 0.428 NA G||| 2196 0.438498 0.7148 0.3501 5008 , , NA 17872 0.2351 NA 0.4692 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L32867 CCDS8697.1 12p12.1-p11.2 2013-03-01 2003-01-14 2005-02-07 ENSG00000111728 ENSG00000111728 6489 2.4.99.8 Sialyltransferases 10869 protein-coding gene gene with protein product ST8Sia I 601123 sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A SIAT8, SIAT8A NA 7901202 Standard NM_003034 NM_003034 NA Approved uc001rfo.4 Q92185 OTTHUMG00000169098 ENST00000396037.4:c.237-88T>C chr12.hg19:g.22440315A>G NA A8K4H6|Q17RL0|Q6PZN5|Q93064 hg19 CCDS8697.1 0.02 2.324099 GCCxCCT COVERED NOVEL ST8SIA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402245.2 0 6.915463 KEEP 0 0 0 23 647 AA 0.999892 0.999618 0 - 7 60 269 0 0 19.66667 80 60 2814 121 ENST00000396037.4 0.08046 0.999726 C2CD5 9847 __UNKNOWN__ __UNKNOWN__ 12 22642902 22642902 __UNKNOWN__ Intron SNP G G A rs73076627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22642902G>A ENST00000333957.4 - 12 1614 C2CD5_ENST00000542676.1_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000446597.1_Intron|C2CD5_ENST00000396028.2_Intron NM_014802.1 NP_055617.1 Q86YS7 C2CD5_HUMAN C2 calcium-dependent domain containing 5 NA NA cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340) cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544) NA CTGTTACTACGGGTTAGTTAA 0.383 NA G||| 242 0.0483227 0.0227 0.0303 5008 , , NA 16821 0.0327 NA 0.0586 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011100 CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1 12p12.1 2012-12-13 2012-12-13 2012-12-13 ENSG00000111731 ENSG00000111731 9847 29062 protein-coding gene gene with protein product 138 kDa C2 domain-containing phosphoprotein KIAA0528 KIAA0528 NA 21907143 Standard NM_014802 XM_005253538 NA Approved CDP138 uc001rfq.3 Q86YS7 OTTHUMG00000169100 ENST00000333957.4:c.1358+154C>T chr12.hg19:g.22642902G>A NA B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3 hg19 CCDS31758.1 0.02 2.062917 TACxGGT COVERED NOVEL C2CD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402257.1 1 4.212445 KEEP 0 0 0 14 431 GG 0.995343 0.995251 0 - 5 60 194 0 0 13.304218 89 60 2899 115 ENST00000333957.4 0.053191 0.999907 C2CD5 9847 __UNKNOWN__ __UNKNOWN__ 12 22677349 22677349 __UNKNOWN__ Intron SNP C C T rs6487309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22677349C>T ENST00000333957.4 - 6 857 C2CD5_ENST00000542676.1_Intron|C2CD5_ENST00000544930.1_Intron|C2CD5_ENST00000545552.1_Intron|C2CD5_ENST00000540703.1_Intron|C2CD5_ENST00000536386.1_Intron|C2CD5_ENST00000446597.1_Intron|C2CD5_ENST00000396028.2_Intron NM_014802.1 NP_055617.1 Q86YS7 C2CD5_HUMAN C2 calcium-dependent domain containing 5 NA NA cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340) cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544) NA CAAAGGAAAGCAAAAAATTTA 0.373 NA T||| 888 0.177316 0.4902 0.0677 5008 , , NA 18413 0.0317 NA 0.0616 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011100 CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1 12p12.1 2012-12-13 2012-12-13 2012-12-13 ENSG00000111731 ENSG00000111731 9847 29062 protein-coding gene gene with protein product 138 kDa C2 domain-containing phosphoprotein KIAA0528 KIAA0528 NA 21907143 Standard NM_014802 XM_005253538 NA Approved CDP138 uc001rfq.3 Q86YS7 OTTHUMG00000169100 ENST00000333957.4:c.601+56G>A chr12.hg19:g.22677349C>T NA B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3 hg19 CCDS31758.1 0.02 3.959122 AAGxAAA COVERED NOVEL C2CD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402257.1 1 5.116498 KEEP 0 0 0 17 584 CC 0.999366 0.999364 0 - 5 60 169 0 0 10.342198 111 60 4106 139 ENST00000333957.4 0.043103 0.999998 ETNK1 55500 __UNKNOWN__ __UNKNOWN__ 12 22778633 22778633 __UNKNOWN__ Intron SNP C C T rs2271099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22778633C>T ENST00000266517.4 + 1 512 ETNK1_ENST00000335148.3_Intron NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 NA NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGCAACATCTCCTTAAGTCTA 0.577 NA C||| 300 0.0599042 0.0484 0.0303 5008 , , NA 19725 0.0446 NA 0.0557 False NA ,,, NA NA NA 2504 0.1166 NA NA NA Esophageal Squamous(42;87 913 3224 6226 43339) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC006111 CCDS8698.1, CCDS41760.1 12p12.2 2004-07-09 ENSG00000139163 ENSG00000139163 55500 24649 protein-coding gene gene with protein product 609858 NA 11912161, 11044454 Standard NM_018638 XM_005253420 NA Approved EKI1, EKI uc001rft.3 Q9HBU6 OTTHUMG00000169008 ENST00000266517.4:c.423+113C>T chr12.hg19:g.22778633C>T NA G5E969 hg19 CCDS8698.1 0.02 7.844642 TCTxCTT COVERED NOVEL ETNK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401926.2 3 34.30746 KEEP 0 0 0 114 3833 CC 1 1 0 + 9 60 318 0 0 19.622217 220 60 8122 369 ENST00000266517.4 0.039301 1 ETNK1 55500 __UNKNOWN__ __UNKNOWN__ 12 22814036 22814036 __UNKNOWN__ Silent SNP A A G rs4963793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:22814036A>G ENST00000266517.4 + 4 953 c.864A>G c.(862-864)gaA>gaG p.E288E NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 288 NA glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTCTCCAGGAAGAGATGACTT 0.363 NA A||| 1282 0.25599 0.0794 0.196 5008 , , NA 14489 0.6925 NA 0.1292 False NA ,,, NA NA NA 2504 0.2178 NA NA NA Esophageal Squamous(42;87 913 3224 6226 43339) NA 0 A 393,4013 197.1+/-221.3 20,353,1830 111 108 109 864 1.1 1 12 dbSNP_111 109 997,7603 215.0+/-254.5 51,895,3354 no coding-synonymous ETNK1 NM_018638.4 71,1248,5184 GG,GA,AA 11.593,8.9197,10.6874 288/453 22814036 1390,11616 2203 4300 6503 SO:0001819 synonymous_variant BC006111 CCDS8698.1, CCDS41760.1 12p12.2 2004-07-09 ENSG00000139163 ENSG00000139163 55500 24649 protein-coding gene gene with protein product 609858 NA 11912161, 11044454 Standard NM_018638 XM_005253420 NA Approved EKI1, EKI uc001rft.3 Q9HBU6 OTTHUMG00000169008 ENST00000266517.4:c.864A>G chr12.hg19:g.22814036A>G NA G5E969 hg19 CCDS8698.1 0.02 14.437911 GGAxGAG COVERED 616 0.28205128205128205 42 0.08536585365853659 77 0.212707182320442 398 0.6958041958041958 99 0.13060686015831136 A 8.711 0.912067 0.17907 0.089197 0.11593 ENSG00000139163 ENST00000538218 . . . 4.75 1.08 0.20341 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.37641 -0.9697 3 . . . -5.9551 8.0978 0.30840 0.7262:0.0:0.2738:0.0 rs4963793;rs58477815;rs4963793 . . . R 279 . . K + 2 0 ETNK1 22705303 0.971000 0.33674 1.000000 0.80357 0.993000 0.82548 0.154000 0.16343 0.338000 0.23692 0.482000 0.46254 AAG NOVEL ETNK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401926.2 1 12.374196 KEEP 0 1 34 53 1738 AA 1 1 0 + 14 60 546 0 0 36.359785 304 60 11131 476 ENST00000266517.4 0.044025 1 SOX5 6660 __UNKNOWN__ __UNKNOWN__ 12 23685841 23685841 __UNKNOWN__ 3'UTR SNP A A G rs75979655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:23685841A>G ENST00000546136.1 - 0 3567 SOX5_ENST00000451604.2_3'UTR|SOX5_ENST00000309359.1_3'UTR|SOX5_ENST00000381381.2_3'UTR P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 NA NA cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366) nuclear transcription factor complex (GO:0044798) sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TGTTTTGCTCAAAATATCAAC 0.358 NA G||| 983 0.196286 0.3064 0.1427 5008 , , NA 19878 0.1825 NA 0.1173 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB081589 CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1 12p12.1 2010-04-20 ENSG00000134532 ENSG00000134532 6660 SRY (sex determining region Y)-boxes 11201 protein-coding gene gene with protein product 604975 NA 8812465 Standard NM_006940 NM_006940 NA Approved L-SOX5, MGC35153 uc001rfw.3 P35711 OTTHUMG00000169026 ENST00000546136.1:c.*1312T>C chr12.hg19:g.23685841A>G NA B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4 hg19 CCDS44844.1 0.02 8.675406 CTCxAAA COVERED NOVEL SOX5-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000402005.2 0 14.140578 KEEP 0 0 0 47 1436 AA 1 1 0 - 10 60 354 0 0 21.986584 238 60 8787 354 ENST00000546136.1 0.040323 1 SOX5 6660 __UNKNOWN__ __UNKNOWN__ 12 23687354 23687354 __UNKNOWN__ Silent SNP G G A rs61756181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:23687354G>A ENST00000545921.1 - 15 2216 c.2061C>T c.(2059-2061)agC>agT p.S687S SOX5_ENST00000451604.2_Silent_p.S697S|SOX5_ENST00000541536.1_Silent_p.S576S|SOX5_ENST00000537393.1_Silent_p.S662S|SOX5_ENST00000309359.1_Silent_p.S684S|SOX5_ENST00000546136.1_Silent_p.S684S|SOX5_ENST00000381381.2_Silent_p.S576S|SOX5_ENST00000396007.2_Silent_p.S311S NM_001261415.1 NP_001248344.1 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 697 NA cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366) nuclear transcription factor complex (GO:0044798) sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TGCTAGACACGCTTGAGTGCT 0.572 NA G||| 353 0.0704872 0.028 0.0591 5008 , , NA 17855 0.1081 NA 0.0109 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 G ,, 140,4266 99.8+/-138.5 3,134,2066 99 85 90 2091,2052,933 -0.5 1 12 dbSNP_129 90 86,8514 49.8+/-109.6 0,86,4214 no coding-synonymous,coding-synonymous,coding-synonymous SOX5 NM_006940.4,NM_152989.2,NM_178010.1 ,, 3,220,6280 AA,AG,GG 1.0,3.1775,1.7377 ,, 697/764,684/751,311/378 23687354 226,12780 2203 4300 6503 SO:0001819 synonymous_variant AB081589 CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1 12p12.1 2010-04-20 ENSG00000134532 ENSG00000134532 6660 SRY (sex determining region Y)-boxes 11201 protein-coding gene gene with protein product 604975 NA 8812465 Standard NM_006940 NM_006940 NA Approved L-SOX5, MGC35153 uc001rfw.3 P35711 OTTHUMG00000169026 ENST00000545921.1:c.2061C>T chr12.hg19:g.23687354G>A NA B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4 hg19 CCDS58217.1 0.02 10.208742 CACxCTT COVERED NOVEL SOX5-007 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402010.1 1 15.648013 KEEP 0 0 0 52 1748 GG 1 1 0 - 9 60 316 1 0 18.50833 280 60 9927 394 ENST00000545921.1 0.031142 1 BCAT1 586 __UNKNOWN__ __UNKNOWN__ 12 24969264 24969264 __UNKNOWN__ 3'UTR SNP A A C rs3825167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:24969264A>C ENST00000261192.7 - 0 3365 BCAT1_ENST00000538118.1_3'UTR|BCAT1_ENST00000342945.5_3'UTR NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic NA NA branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cell proliferation (GO:0008283)|cellular nitrogen compound metabolic process (GO:0034641)|G1/S transition of mitotic cell cycle (GO:0000082)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrion (GO:0005739) branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655) breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161) GCAAGAAGGAAGTTATGAGGA 0.338 NA A||| 428 0.0854633 0.09 0.0937 5008 , , NA 9636 0.1419 NA 0.0348 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44845.1, CCDS53760.1, CCDS53761.1, CCDS53762.1, CCDS53763.1 12p12.1 2012-10-02 2010-05-07 ENSG00000060982 ENSG00000060982 586 2.6.1.42 976 protein-coding gene gene with protein product 113520 branched chain aminotransferase 1, cytosolic BCT1 NA 9165094 Standard NM_005504 NM_005504 NA Approved uc010six.2 P54687 OTTHUMG00000169053 ENST00000261192.7:c.*1678T>G chr12.hg19:g.24969264A>C NA B3KY27|B7Z2M5|B7Z5L0|F5H5E4|Q68DQ7|Q96MY9 hg19 CCDS44845.1 0.02 8.497055 GGAxGTT COVERED NOVEL BCAT1-001 KNOWN upstream_uORF|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402080.1 2 13.540401 KEEP 0 0 0 45 1426 AA 1 1 0 - 14 60 458 0 0 29.926901 209 60 7483 305 ENST00000261192.7 0.06278 1 C12orf77 196415 __UNKNOWN__ __UNKNOWN__ 12 25148480 25148480 __UNKNOWN__ Intron SNP T T C rs73297348 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:25148480T>C ENST00000549828.1 - 3 612 C12orf77_ENST00000549262.1_3'UTR NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 NA NA endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 ACAAAGTGACTCCCTCAGATC 0.443 NA T||| 268 0.0535144 0.056 0.0432 5008 , , NA 17947 0.1369 NA 0.001 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC046192 CCDS44846.1 12p12.1 2009-09-30 ENSG00000226397 ENSG00000226397 196415 27282 protein-coding gene gene with protein product NA 12477932 Standard NM_001101339 NM_001101339 NA Approved uc001rgf.3 C9JDV5 OTTHUMG00000170185 ENST00000549828.1:c.407+260A>G chr12.hg19:g.25148480T>C NA hg19 CCDS44846.1 0.02 7.739246 GACxCCC COVERED NOVEL C12orf77-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407827.1 3 10.832837 KEEP 0 0 0 36 1143 TT 0.999999 0.999999 0 - 8 60 287 0 0 17.278031 233 60 8648 334 ENST00000549828.1 0.033195 1 LRMP 4033 __UNKNOWN__ __UNKNOWN__ 12 25261165 25261165 __UNKNOWN__ 3'UTR SNP A A G rs11047837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:25261165A>G ENST00000354454.3 + 0 2500 LRMP_ENST00000547044.1_3'UTR NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein NA NA immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903) chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) CTAAAATACAATGGGGAAGAA 0.313 NA A||| 472 0.0942492 0.0053 0.1585 5008 , , NA 18461 0.1032 NA 0.16 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8701.1 12p12.1 2012-05-16 ENSG00000118308 ENSG00000118308 4033 6690 protein-coding gene gene with protein product 602003 NA 8021504 Standard NM_006152 NM_006152 NA Approved JAW1 uc010sja.2 Q12912 OTTHUMG00000170192 ENST00000354454.3:c.*171A>G chr12.hg19:g.25261165A>G NA A0AVM2|B4E077|Q8N301 hg19 CCDS8701.1 0.02 6.554513 ACAxTGG COVERED NOVEL LRMP-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407870.1 1 12.338054 KEEP 0 0 0 41 1328 AA 1 1 0 + 10 60 370 0 0 25.207952 162 60 5945 272 ENST00000354454.3 0.05814 1 KRAS 3845 __UNKNOWN__ __UNKNOWN__ 12 25398284 25398284 __UNKNOWN__ Missense_Mutation SNP C C T rs121913529 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 NA G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}. actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542) focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403) p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) NA NA NA NA NA NA NA NA NA Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1) 91 81 85 NA NA 12 NA 25398284 2203 4300 6503 SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS BC010502 CCDS8702.1, CCDS8703.1 12p12.1 2014-09-17 2013-07-08 2005-01-24 ENSG00000133703 ENSG00000133703 3845 6407 protein-coding gene gene with protein product 190070 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog KRAS2 NA Standard NM_033360 NM_004985 NA Approved KRAS1 uc001rgp.1 P01116 ENST00000256078.4:c.35G>A chr12.hg19:g.25398284C>T ENSP00000256078:p.Gly12Asp NA A8K8Z5|B0LPF9|P01118|Q96D10 hg19 CCDS8703.1 0.02 17.10102 CCAxCAG COVERED . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT NOVEL KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000412232.1 3 34.010654 KEEP 0 0 0 113 4045 CC 1 1 0 - 18 60 641 0 0 40.001783 426 60 15824 703 ENST00000256078.4 0.040541 1 IFLTD1 0 __UNKNOWN__ __UNKNOWN__ 12 25702544 25702544 __UNKNOWN__ Intron SNP A A C rs17422350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:25702544A>C ENST00000458174.2 - 3 334 IFLTD1_ENST00000282881.6_Intron|IFLTD1_ENST00000413632.2_Intron|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_Intron NM_001145728.2 NP_001139200.1 Q8N9Z9 LMTD1_HUMAN NA NA cell proliferation (GO:0008283) cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635) structural molecule activity (GO:0005198) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) TGAATAAAAGAAGCATGGGCT 0.279 NA A||| 638 0.127396 0.0295 0.1182 5008 , , NA 13747 0.2133 NA 0.1034 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000458174.2:c.90-64T>G chr12.hg19:g.25702544A>C NA B4DL27|B4DY70|Q8IY38 hg19 CCDS44849.1 0.02 2.182281 AAGxAGC COVERED NOVEL IFLTD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402079.1 0 2.405857 KEEP 0 0 0 8 221 AA 0.99257 0.988831 0 - 6 60 230 0 0 17.010894 63 60 2219 77 ENST00000458174.2 0.086957 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 25977218 25977218 __UNKNOWN__ IGR SNP G G T rs7980664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:25977218G>T NA NA RP11-443N24.2 (10113 upstream) : RP11-443N24.3 (7131 downstream) NA NA NA tagcagccgggactacaggca 0.532 NA G||| 1946 0.388578 0.143 0.5576 5008 , , NA 17956 0.3482 NA 0.5278 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.25977218G>T NA hg19 0.02 -0.05264 CGGxACT UNCOVERED NOVEL 0 2 3.310904 KEEP 0 0 0 11 398 GG 0.993072 0.036511 0 2 60 73 0 0 6.595618 4 60 151 23 0.333333 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 26027172 26027172 __UNKNOWN__ IGR SNP G G A rs73287293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26027172G>A NA NA RP11-443N24.3 (40056 upstream) : RP11-443N24.4 (8715 downstream) NA NA NA TTTAGACTCCGGCACACAACA 0.443 NA g||| 1202 0.240016 0.2663 0.2781 5008 , , NA 20695 0.4137 NA 0.0378 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.26027172G>A NA hg19 0.02 4.568069 TCCxGCA COVERED NOVEL 0 1 4.815395 KEEP 0 0 0 16 539 GG 0.997832 0.997832 0 11 60 414 0 0 29.607772 138 60 4867 182 0.073826 1 RASSF8 11228 __UNKNOWN__ __UNKNOWN__ 12 26208474 26208474 __UNKNOWN__ Intron SNP C C A rs3741546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26208474C>A ENST00000405154.2 + 2 302 RASSF8_ENST00000282884.9_Intron|RASSF8_ENST00000541490.1_Intron|RASSF8_ENST00000542865.1_Intron|RASSF8_ENST00000381352.3_Intron NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 NA NA signal transduction (GO:0007165) cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) GGATTTTGTTCATTTGGTTCC 0.378 NA C||| 640 0.127796 0.0121 0.1988 5008 , , NA 21088 0.3016 NA 0.001 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U82396 CCDS8705.1, CCDS53765.1 12p12.3 2013-05-30 2008-02-22 2005-09-14 ENSG00000123094 ENSG00000123094 11228 13232 protein-coding gene gene with protein product 608231 chromosome 12 open reading frame 2 C12orf2 NA Standard NM_007211 NM_007211 NA Approved HoJ-1 uc001rgx.3 Q8NHQ8 OTTHUMG00000169087 ENST00000405154.2:c.103+95C>A chr12.hg19:g.26208474C>A NA A8K1Z0|O95647|Q5SCI2|Q76KB6 hg19 CCDS53765.1 0.02 5.364493 GTTxATT COVERED NOVEL RASSF8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402209.2 2 7.825506 KEEP 0 0 0 26 921 CC 0.999957 0.999957 0 + 7 60 237 0 0 13.972009 187 60 7106 243 ENST00000405154.2 0.036082 1 RASSF8 11228 __UNKNOWN__ __UNKNOWN__ 12 26208488 26208488 __UNKNOWN__ Intron SNP A A G rs3741547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26208488A>G ENST00000405154.2 + 2 302 RASSF8_ENST00000282884.9_Intron|RASSF8_ENST00000541490.1_Intron|RASSF8_ENST00000542865.1_Intron|RASSF8_ENST00000381352.3_Intron NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 NA NA signal transduction (GO:0007165) cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) TGGTTCCATAATAAGTCTCAC 0.368 NA A||| 641 0.127995 0.0121 0.2003 5008 , , NA 21149 0.3016 NA 0.001 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U82396 CCDS8705.1, CCDS53765.1 12p12.3 2013-05-30 2008-02-22 2005-09-14 ENSG00000123094 ENSG00000123094 11228 13232 protein-coding gene gene with protein product 608231 chromosome 12 open reading frame 2 C12orf2 NA Standard NM_007211 NM_007211 NA Approved HoJ-1 uc001rgx.3 Q8NHQ8 OTTHUMG00000169087 ENST00000405154.2:c.103+109A>G chr12.hg19:g.26208488A>G NA A8K1Z0|O95647|Q5SCI2|Q76KB6 hg19 CCDS53765.1 0.02 6.286863 ATAxTAA COVERED NOVEL RASSF8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402209.2 2 5.715794 KEEP 0 0 0 19 562 AA 0.99986 0.99986 0 + 7 60 259 0 0 16.817046 150 60 5547 177 ENST00000405154.2 0.044586 1 BHLHE41 79365 __UNKNOWN__ __UNKNOWN__ 12 26273088 26273088 __UNKNOWN__ 3'UTR SNP C C G rs1048155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26273088C>G ENST00000242728.4 - 0 3707 NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 NA NA cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887) nucleus (GO:0005634) bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 CAAAAAAAAGCTGTAAATCTG 0.348 NA C||| 2512 0.501597 0.1392 0.6427 5008 , , NA 17277 0.7659 NA 0.6143 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB044088 CCDS8706.1 12p12.1 2011-12-05 2009-01-12 2009-01-12 ENSG00000123095 ENSG00000123095 79365 Basic helix-loop-helix proteins 16617 protein-coding gene gene with protein product differentially expressed in chondrocytes 2, Enhancer-of-split and hairy-related protein 1 606200 basic helix-loop-helix domain containing, class B, 3 BHLHB3 NA 11162494, 18557763 Standard NM_030762 NM_030762 NA Approved DEC2, SHARP-1, SHARP1, bHLHe41 uc001rhb.3 Q9C0J9 OTTHUMG00000169174 ENST00000242728.4:c.*1911G>C chr12.hg19:g.26273088C>G NA A2I2N8 hg19 CCDS8706.1 0.02 2.062951 AAGxTGT COVERED NOVEL BHLHE41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402714.1 1 16.855404 KEEP 0 0 0 56 2021 CC 1 0.999907 0 - 7 60 264 0 0 18.922349 87 60 3281 188 ENST00000242728.4 0.074468 0.999907 BHLHE41 79365 __UNKNOWN__ __UNKNOWN__ 12 26275555 26275555 __UNKNOWN__ Missense_Mutation SNP G G A rs11048413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26275555G>A ENST00000242728.4 - 5 1240 c.893C>T c.(892-894)gCg>gTg p.A298V NM_030762.2 NP_110389.1 Q9C0J9 BHE41_HUMAN basic helix-loop-helix family, member e41 298 Ala/Gly-rich. NA cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887) nucleus (GO:0005634) bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1) 5 tgccgccgccgccgcgccgcc 0.791 NA G||| 1856 0.370607 0.1097 0.5922 5008 , , NA 3297 0.5347 NA 0.507 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 1 1 1 NA NA 12 NA 26275555 357 1118 1475 SO:0001583 missense AB044088 CCDS8706.1 12p12.1 2011-12-05 2009-01-12 2009-01-12 ENSG00000123095 ENSG00000123095 79365 Basic helix-loop-helix proteins 16617 protein-coding gene gene with protein product differentially expressed in chondrocytes 2, Enhancer-of-split and hairy-related protein 1 606200 basic helix-loop-helix domain containing, class B, 3 BHLHB3 NA 11162494, 18557763 Standard NM_030762 NM_030762 NA Approved DEC2, SHARP-1, SHARP1, bHLHe41 uc001rhb.3 Q9C0J9 OTTHUMG00000169174 ENST00000242728.4:c.893C>T chr12.hg19:g.26275555G>A ENSP00000242728:p.Ala298Val NA A2I2N8 hg19 CCDS8706.1 0.02 -0.38567 GCCxCCG COVERED 867 0.39697802197802196 77 0.1565040650406504 193 0.5331491712707183 274 0.479020979020979 323 0.4261213720316623 G 8.816 0.936503 0.18206 . . ENSG00000123095 ENST00000242728 T 0.57273 0.41 2.31 1.37 0.22104 . 11.993900 0.00732 U 0.000955 T 0.00012 0.0000 N 0.08118 0 0.09310 P 0.9999999999799658 B 0.21071 0.051 B 0.04013 0.001 T 0.43475 -0.9389 9 0.30078 T 0.28 . 5.0625 0.14564 0.2005:0.0:0.7995:0.0 rs11048413;rs17852318 298 Q9C0J9 BHE41_HUMAN V 298 ENSP00000242728:A298V ENSP00000242728:A298V A - 2 0 BHLHE41 26166822 0.032000 0.19561 0.989000 0.46669 0.255000 0.26057 -0.097000 0.11042 0.105000 0.17753 0.089000 0.15464 GCG NOVEL BHLHE41-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402714.1 0 11.128035 KEEP 0 0 0 37 1134 GG 1 0.918171 0 - 3 60 108 0 0 7.477608 41 60 1234 87 ENST00000242728.4 0.068182 0.918171 SSPN 8082 __UNKNOWN__ __UNKNOWN__ 12 26384555 26384555 __UNKNOWN__ 3'UTR SNP C C T rs11835695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26384555C>T ENST00000242729.2 + 0 1455 SSPN_ENST00000535504.1_Intron|RP11-283G6.4_ENST00000540392.1_RNA|RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|SSPN_ENST00000422622.2_3'UTR|RP11-283G6.5_ENST00000541940.1_RNA NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan NA NA cell adhesion (GO:0007155)|muscle contraction (GO:0006936) cell junction (GO:0030054)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133) kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) AGAGTAGAAACGGAAGAGGCT 0.498 NA C||| 1918 0.382987 0.4418 0.3818 5008 , , NA 18642 0.1915 NA 0.5417 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF016028 CCDS8707.1, CCDS44850.1 12p11.2 2014-09-17 2012-03-14 ENSG00000123096 8082 11322 protein-coding gene gene with protein product 601599 Kras oncogene-associated gene KRAG NA 9395445, 8661122 Standard NM_005086 NM_005086 NA Approved SPN1, SPN2 uc001rhe.3 Q14714 ENST00000242729.2:c.*546C>T chr12.hg19:g.26384555C>T NA B3KS67 hg19 CCDS8707.1 0.02 7.14557 AAAxGGA COVERED NOVEL SSPN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402654.2 0 19.296388 KEEP 0 1 31 75 2600 CC 1 1 0 + 12 60 459 0 0 32.699807 161 60 5741 315 ENST00000242729.2 0.069364 1 ITPR2 3709 __UNKNOWN__ __UNKNOWN__ 12 26810816 26810816 __UNKNOWN__ Silent SNP T T G rs2291263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26810816T>G ENST00000381340.3 - 18 2432 c.2016A>C c.(2014-2016)tcA>tcC p.S672S NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 672 NA activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) Caffeine(DB00201) CTGCTTGCATTGAGACCACCC 0.373 NA T||| 1405 0.280551 0.09 0.3775 5008 , , NA 19690 0.5635 NA 0.1799 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 T 383,3331 21,341,1495 97 88 91 2016 -8.8 0.3 12 dbSNP_100 91 1346,6846 108,1130,2858 no coding-synonymous ITPR2 NM_002223.2 129,1471,4353 GG,GT,TT 16.4307,10.3123,14.5221 672/2702 26810816 1729,10177 1857 4096 5953 SO:0001819 synonymous_variant D26350 CCDS41764.1 12p11.23 2014-07-18 2011-04-28 ENSG00000123104 ENSG00000123104 3709 Ion channels / Inositol triphosphate receptors 6181 protein-coding gene gene with protein product cilia and flagella associated protein 48 600144 inositol 1,4,5-triphosphate receptor, type 2 NA 8081734 Standard NM_002223 XM_006719064 NA Approved IP3R2, CFAP48 uc001rhg.3 Q14571 OTTHUMG00000169181 ENST00000381340.3:c.2016A>C chr12.hg19:g.26810816T>G NA O94773 hg19 CCDS41764.1 0.02 12.018454 CATxGAG COVERED NOVEL ITPR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402732.1 0 7.15637 KEEP 0 1 32 35 1118 TT 1 1 0 - 8 60 309 0 0 19.304216 245 60 8960 334 ENST00000381340.3 0.031621 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 26986198 26986198 __UNKNOWN__ IGR SNP A A G rs11048710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:26986198A>G NA NA ITPR2 (67 upstream) : ASUN (71915 downstream) NA NA NA TTGGGCGAGGAGGAGGAGAGG 0.761 NA G||| 678 0.135383 0.0265 0.1354 5008 , , NA 9567 0.2282 NA 0.1998 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.26986198A>G NA hg19 0.02 2.246421 AGGxGGA COVERED NOVEL 0 0 9.926702 KEEP 0 0 0 33 980 AA 0.999998 0.999928 0 5 60 194 0 0 13.260838 91 60 3278 142 0.052083 0.99993 TM7SF3 51768 __UNKNOWN__ __UNKNOWN__ 12 27126196 27126196 __UNKNOWN__ 3'UTR SNP T T G rs1127782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27126196T>G ENST00000343028.4 - 0 2640 RP11-421F16.3_ENST00000500632.1_RNA NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) gtagcctcaatcttcagggct 0.443 NA T||| 2227 0.444688 0.4191 0.585 5008 , , NA 16692 0.2569 NA 0.5905 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032470 CCDS8710.1 12q11-q12 2012-08-10 ENSG00000064115 ENSG00000064115 51768 23049 protein-coding gene gene with protein product 605181 NA 10828615 Standard NM_016551 NM_016551 NA Approved uc010sjl.2 Q9NS93 OTTHUMG00000169243 ENST00000343028.4:c.*702A>C chr12.hg19:g.27126196T>G NA B3KMZ3|Q9NUS4 hg19 CCDS8710.1 0.02 -0.245652 CAAxCTT COVERED NOVEL TM7SF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403033.1 1 3.309409 KEEP 0 0 0 11 335 TT 0.993072 0.636904 0 - 4 60 154 0 0 12.321747 24 60 899 54 ENST00000343028.4 0.142857 0.641347 TM7SF3 51768 __UNKNOWN__ __UNKNOWN__ 12 27165684 27165684 __UNKNOWN__ Intron SNP G G A rs12321522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27165684G>A ENST00000343028.4 - 1 317 TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) tgtaatcccagcactctggga 0.502 NA G||| 779 0.155551 0.1339 0.0749 5008 , , NA 16654 0.3095 NA 0.1064 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032470 CCDS8710.1 12q11-q12 2012-08-10 ENSG00000064115 ENSG00000064115 51768 23049 protein-coding gene gene with protein product 605181 NA 10828615 Standard NM_016551 NM_016551 NA Approved uc010sjl.2 Q9NS93 OTTHUMG00000169243 ENST00000343028.4:c.91+1326C>T chr12.hg19:g.27165684G>A NA B3KMZ3|Q9NUS4 hg19 CCDS8710.1 0.02 6.15645 CCAxCAC COVERED NOVEL TM7SF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403033.1 2 18.961509 KEEP 2 0 0 63 2222 GG 1 1 0 - 10 60 348 0 0 23.013529 162 60 5884 247 ENST00000343028.4 0.05814 1 C12orf71 728858 __UNKNOWN__ __UNKNOWN__ 12 27235248 27235248 __UNKNOWN__ Missense_Mutation SNP C C T rs538607959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27235248C>T ENST00000429849.2 - 1 199 c.169G>A c.(169-171)Gtc>Atc p.V57I NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 57 NA endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 GCCCCTTGGACGGGAGGCAGA 0.532 NA T||| 2 0.000399361 0.0008 0.0 5008 , , NA 19429 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 63 62 62 NA NA 12 NA 27235248 1955 4137 6092 SO:0001583 missense CCDS44851.1 12p11.23 2008-07-25 ENSG00000214700 ENSG00000214700 728858 34452 protein-coding gene gene with protein product NA Standard NM_001080406 NM_001080406 NA Approved LOC728858 uc001rhq.3 A8MTZ7 OTTHUMG00000169274 ENST00000429849.2:c.169G>A chr12.hg19:g.27235248C>T ENSP00000413728:p.Val57Ile NA hg19 CCDS44851.1 0.02 10.216397 GGAxGGG COVERED . . . . . . . . . . T 1.540 -0.541990 0.04053 . . ENSG00000214700 ENST00000398815;ENST00000429849 T 0.35421 1.31 3.11 1.64 0.23874 . 0.267442 0.19540 N 0.111835 T 0.10937 0.0267 N 0.03050 -0.425 0.09310 N 0.999991 B 0.02656 0.0 B 0.01281 0.0 T 0.34551 -0.9824 10 0.02654 T 1 -3.4128 5.1025 0.14766 0.0:0.406:0.0:0.594 . 57 A8MTZ7 CL071_HUMAN I 57 ENSP00000413728:V57I ENSP00000381796:V57I V - 1 0 C12orf71 27126515 0.021000 0.18746 0.988000 0.46212 0.192000 0.23643 -0.762000 0.04745 -0.079000 0.12707 -0.443000 0.05667 GTC NOVEL C12orf71-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403258.1 0 9.027812 KEEP 0 0 0 30 1002 CC 0.999997 0.999997 0 - 9 60 310 0 0 18.341535 256 60 8952 339 ENST00000429849.2 0.033962 1 ARNTL2 56938 __UNKNOWN__ __UNKNOWN__ 12 27486095 27486095 __UNKNOWN__ Intron SNP G G T rs71524339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27486095G>T ENST00000546179.1 + 1 217 ARNTL2_ENST00000544915.1_Intron|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000311001.5_Intron|ARNTL2_ENST00000266503.5_Intron|ARNTL2_ENST00000261178.5_Intron NM_001248005.1 NP_001234934.1 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 NA NA circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) CTGACGCGCTGGGGGCGTCCC 0.781 NA G||| 520 0.103834 0.0386 0.0144 5008 , , NA 6805 0.3671 NA 0.0239 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 5 16 13 NA NA 12 NA 27486095 567 1380 1947 SO:0001627 intron_variant AF246961 CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1 12p12.2-p11.2 2013-05-21 ENSG00000029153 ENSG00000029153 56938 Basic helix-loop-helix proteins 18984 protein-coding gene gene with protein product 614517 NA 10864977, 10964693 Standard NM_020183 NM_020183 NA Approved BMAL2, MOP9, CLIF, PASD9, bHLHe6 uc001rht.2 Q8WYA1 OTTHUMG00000169257 ENST00000546179.1:c.64+26G>T chr12.hg19:g.27486095G>T NA B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5 hg19 CCDS58222.1 0.02 -0.184183 GCTxGGG COVERED NOVEL ARNTL2-003 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000403159.1 0 4.514588 KEEP 0 0 0 15 523 GG 0.99649 0.421991 0 + 3 60 89 0 0 6.598271 18 60 658 47 ENST00000546179.1 0.142857 0.423478 ARNTL2 56938 __UNKNOWN__ __UNKNOWN__ 12 27529219 27529219 __UNKNOWN__ Intron SNP A A C rs4964059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27529219A>C ENST00000546179.1 + 3 368 ARNTL2_ENST00000544915.1_Intron|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000539558.1_Intron|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000311001.5_Intron|ARNTL2_ENST00000266503.5_Intron|ARNTL2_ENST00000261178.5_Intron NM_001248005.1 NP_001234934.1 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 NA NA circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) CTATTTCTCTATCAAGAACTA 0.348 NA C||| 1383 0.276158 0.1324 0.1873 5008 , , NA 22157 0.4484 NA 0.333 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 C 216,1168 16,184,492 129 108 114 -0.5 0 12 dbSNP_111 114 1142,2040 204,734,653 no intron ARNTL2 NM_020183.3 220,918,1145 CC,CA,AA 35.8894,15.6069,29.7416 27529219 1358,3208 692 1591 2283 SO:0001627 intron_variant AF246961 CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1 12p12.2-p11.2 2013-05-21 ENSG00000029153 ENSG00000029153 56938 Basic helix-loop-helix proteins 18984 protein-coding gene gene with protein product 614517 NA 10864977, 10964693 Standard NM_020183 NM_020183 NA Approved BMAL2, MOP9, CLIF, PASD9, bHLHe6 uc001rht.2 Q8WYA1 OTTHUMG00000169257 ENST00000546179.1:c.216-3961A>C chr12.hg19:g.27529219A>C NA B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5 hg19 CCDS58222.1 0.02 4.364501 TCTxTCA COVERED NOVEL ARNTL2-003 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000403159.1 2 3.911054 KEEP 0 0 0 13 390 AA 0.994391 0.994391 0 + 12 60 455 0 0 33.521725 126 60 4516 166 ENST00000546179.1 0.086957 1 ARNTL2 56938 __UNKNOWN__ __UNKNOWN__ 12 27533367 27533367 __UNKNOWN__ Intron SNP A A G rs4964060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27533367A>G ENST00000546179.1 + 3 526 ARNTL2_ENST00000544915.1_Intron|ARNTL2_ENST00000395901.2_Intron|ARNTL2_ENST00000542388.1_Intron|ARNTL2_ENST00000311001.5_Intron|ARNTL2_ENST00000266503.5_Intron|ARNTL2_ENST00000261178.5_Intron NM_001248005.1 NP_001234934.1 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 NA NA circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) CCACACTTCGATAAGTGAAAT 0.438 NA A||| 2054 0.410144 0.1755 0.7075 5008 , , NA 19186 0.3284 NA 0.5646 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 A 1050,3356 387.2+/-326.4 123,804,1276 84 78 80 -5.2 0 12 dbSNP_111 80 5077,3523 632.3+/-398.6 1501,2075,724 no intron ARNTL2 NM_020183.3 1624,2879,2000 GG,GA,AA 40.9651,23.8311,47.109 27533367 6127,6879 2203 4300 6503 SO:0001627 intron_variant AF246961 CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1 12p12.2-p11.2 2013-05-21 ENSG00000029153 ENSG00000029153 56938 Basic helix-loop-helix proteins 18984 protein-coding gene gene with protein product 614517 NA 10864977, 10964693 Standard NM_020183 NM_020183 NA Approved BMAL2, MOP9, CLIF, PASD9, bHLHe6 uc001rht.2 Q8WYA1 OTTHUMG00000169257 ENST00000546179.1:c.373+30A>G chr12.hg19:g.27533367A>G NA B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5 hg19 CCDS58222.1 0.02 11.769611 TCGxTAA COVERED NOVEL ARNTL2-003 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000403159.1 2 12.61622 KEEP 0 0 0 42 1297 AA 1 1 0 + 14 60 525 0 0 35.300973 255 60 9392 381 ENST00000546179.1 0.052045 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 27913484 27913484 __UNKNOWN__ IGR SNP C C T rs10771362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:27913484C>T NA NA MRPS35 (4256 upstream) : MANSC4 (2186 downstream) NA NA NA gtgatccacccgcctcagcct 0.517 NA C||| 2760 0.551118 0.705 0.5879 5008 , , NA 16751 0.4692 NA 0.5089 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.27913484C>T NA hg19 0.02 -0.078954 ACCxGCC UNCOVERED NOVEL 0 4 2.708738 KEEP 2 0 0 9 308 CC 0 0 0 4 60 146 0 0 13.823465 5 60 165 22 0.444444 0.077336 PTHLH 5744 __UNKNOWN__ __UNKNOWN__ 12 28114643 28114643 __UNKNOWN__ 3'UTR SNP T T A rs967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:28114643T>A ENST00000538310.1 - 0 811 PTHLH_ENST00000539239.1_Intron|PTHLH_ENST00000545234.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Intron P12272 PTHR_HUMAN parathyroid hormone-like hormone NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) GCTCAAGATTTTTCTAGTGCC 0.378 NA T||| 361 0.0720847 0.0174 0.1124 5008 , , NA 15828 0.128 NA 0.0308 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8715.1, CCDS44853.1 12p12.1-p11.2 2014-01-07 ENSG00000087494 ENSG00000087494 5744 Endogenous ligands 9607 protein-coding gene gene with protein product osteostatin, parathyroid hormone-like hormone preproprotein, parathyroid hormone-related protein preproprotein 168470 NA 2708388 Standard NM_198965 NM_002820 NA Approved PTHRP, HHM, PLP, PTHR uc001ril.3 P12272 OTTHUMG00000169221 ENST00000538310.1:c.*182A>T chr12.hg19:g.28114643T>A NA Q15251|Q6FH74 hg19 0.02 7.735873 ATTxTTC COVERED NOVEL PTHLH-004 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402914.1 2 11.133893 KEEP 0 0 0 37 1188 TT 1 1 0 - 7 60 245 0 0 14.240529 223 60 8183 336 ENST00000538310.1 0.030435 1 PTHLH 5744 __UNKNOWN__ __UNKNOWN__ 12 28114816 28114816 __UNKNOWN__ 3'UTR SNP A A G rs6248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:28114816A>G ENST00000538310.1 - 0 638 PTHLH_ENST00000539239.1_Intron|PTHLH_ENST00000545234.1_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Intron P12272 PTHR_HUMAN parathyroid hormone-like hormone NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 10 Lung SC(9;0.184) GCAGAGTCAAAGGAAATGACT 0.358 NA A||| 361 0.0720847 0.0174 0.1124 5008 , , NA 18465 0.128 NA 0.0308 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 17 16 16 NA NA 12 NA 28114816 875 1989 2864 SO:0001624 3_prime_UTR_variant CCDS8715.1, CCDS44853.1 12p12.1-p11.2 2014-01-07 ENSG00000087494 ENSG00000087494 5744 Endogenous ligands 9607 protein-coding gene gene with protein product osteostatin, parathyroid hormone-like hormone preproprotein, parathyroid hormone-related protein preproprotein 168470 NA 2708388 Standard NM_198965 NM_002820 NA Approved PTHRP, HHM, PLP, PTHR uc001ril.3 P12272 OTTHUMG00000169221 ENST00000538310.1:c.*9T>C chr12.hg19:g.28114816A>G NA Q15251|Q6FH74 hg19 0.02 4.425959 CAAxGGA COVERED NOVEL PTHLH-004 KNOWN basic protein_coding NA protein_coding OTTHUMT00000402914.1 3 5.114867 KEEP 0 0 0 17 528 AA 0.999366 0.999366 0 - 7 60 260 0 0 17.480842 124 60 4565 158 ENST00000538310.1 0.053435 1 OVCH1-AS1 101055625 __UNKNOWN__ __UNKNOWN__ 12 29639877 29639877 __UNKNOWN__ Missense_Mutation SNP G G C rs72640147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:29639877G>C ENST00000551108.1 + 2 619 c.407G>C c.(406-408)aGt>aCt p.S136T OVCH1_ENST00000318184.5_Intron|OVCH1-AS1_ENST00000549411.1_3'UTR OVCH1 antisense RNA 1 NA NA NA CAGTGGAGCAGTGAAGAGGCC 0.483 NA G||| 230 0.0459265 0.0023 0.0591 5008 , , NA 18524 0.1597 NA 0.0 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 12p11.22 2013-05-30 ENSG00000257599 ENSG00000257599 101055625 Long non-coding RNAs 44484 non-coding RNA RNA, long non-coding NA Standard NR_073170 NA Approved OTTHUMG00000169323 ENST00000551108.1:c.407G>C chr12.hg19:g.29639877G>C ENSP00000449101:p.Ser136Thr NA hg19 0.02 34.194414 GCAxTGA COVERED 133 0.060897435897435896 4 0.008130081300813009 25 0.06906077348066299 104 0.18181818181818182 0 0.0 G 2.877 -0.232576 0.05983 . . ENSG00000257599 ENST00000551108 . . . 2.7 -4.0 0.04057 . . . . . T 0.00073 0.0002 . . . 0.09310 N 1 . . . . . . T 0.18461 -1.0336 5 0.87932 D 0 . 5.4353 0.16478 0.2668:0.1973:0.536:0.0 . . . . T 136 . ENSP00000449101:S136T S + 2 0 RP11-677C1.2 29531144 0.000000 0.05858 0.002000 0.10522 0.013000 0.08279 -0.263000 0.08670 -0.983000 0.03511 -0.471000 0.05019 AGT NOVEL OVCH1-AS1-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000403500.1 1 21.671114 KEEP 0 0 0 72 2611 GG 1 1 0 + 41 60 1544 0 0 105.534224 692 60 26295 997 ENST00000551108.1 0.055935 1 TMTC1 83857 __UNKNOWN__ __UNKNOWN__ 12 29656604 29656604 __UNKNOWN__ 3'UTR SNP A A C rs2043624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:29656604A>C ENST00000256062.5 - 0 5973 NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) ATTGGTTCAAATGTTCAGCCA 0.408 NA A||| 301 0.0601038 0.0038 0.085 5008 , , NA 17850 0.1756 NA 0.0308 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8718.1, CCDS53772.1 12p11.22 2014-06-09 2006-01-06 ENSG00000133687 83857 Tetratricopeptide (TTC) repeat domain containing 24099 protein-coding gene gene with protein product 615855 NA 24764305 Standard NM_031920 NM_001193451 NA Approved ARG99, OLF, FLJ31400, FLJ41625 uc021qwi.1 Q8IUR5 OTTHUMG00000169324 ENST00000256062.5:c.*3175T>G chr12.hg19:g.29656604A>C NA D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2 hg19 CCDS8718.1 0.02 7.388269 CAAxTGT COVERED NOVEL TMTC1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000403503.1 2 7.572259 KEEP 0 1 10 29 887 AA 0.999997 0.999997 0 - 8 60 317 1 0 21.551599 160 60 5909 244 ENST00000256062.5 0.047619 1 TMTC1 83857 __UNKNOWN__ __UNKNOWN__ 12 29664935 29664935 __UNKNOWN__ Intron SNP G G A rs76455237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:29664935G>A ENST00000551659.1 - 19 2840 TMTC1_ENST00000539277.1_Intron|TMTC1_ENST00000319685.8_Intron|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000552618.1_Intron Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GAAAACACAGGGGGAAAGCCC 0.408 NA G||| 306 0.0611022 0.0038 0.0836 5008 , , NA 15941 0.1766 NA 0.0388 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 G , 34,4372 39.2+/-71.8 0,34,2169 159 150 153 , -6.5 0 12 dbSNP_131 153 285,8315 105.8+/-166.7 4,277,4019 no intron,intron TMTC1 NM_001193451.1,NM_175861.3 , 4,311,6188 AA,AG,GG 3.314,0.7717,2.4527 , , 29664935 319,12687 2203 4300 6503 SO:0001627 intron_variant CCDS8718.1, CCDS53772.1 12p11.22 2014-06-09 2006-01-06 ENSG00000133687 83857 Tetratricopeptide (TTC) repeat domain containing 24099 protein-coding gene gene with protein product 615855 NA 24764305 Standard NM_031920 NM_001193451 NA Approved ARG99, OLF, FLJ31400, FLJ41625 uc021qwi.1 Q8IUR5 OTTHUMG00000169324 ENST00000551659.1:c.2694+40C>T chr12.hg19:g.29664935G>A NA D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2 hg19 0.02 8.806965 CAGxGGG COVERED NOVEL TMTC1-010 NOVEL not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000403505.1 1 16.532716 KEEP 0 0 0 55 1925 GG 1 1 0 - 9 60 335 0 0 21.250453 224 60 8298 369 ENST00000551659.1 0.038627 1 IPO8 10526 __UNKNOWN__ __UNKNOWN__ 12 30783743 30783743 __UNKNOWN__ 3'UTR SNP C C T rs2278558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:30783743C>T ENST00000544829.1 - 0 2874 IPO8_ENST00000256079.4_3'UTR NM_001190995.1 NP_001177924.1 O15397 IPO8_HUMAN importin 8 NA NA intracellular protein transport (GO:0006886)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleus (GO:0005634) Ran GTPase binding (GO:0008536) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCACACTCCTCTTGTGAAATA 0.478 NA T||| 1289 0.257388 0.2882 0.1383 5008 , , NA 17762 0.373 NA 0.2515 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 T , 1261,3145 701.7+/-406.8 189,883,1131 53 51 52 , -5.6 0 12 dbSNP_100 52 2266,6334 706.6+/-405.5 286,1694,2320 no utr-3,utr-3 IPO8 NM_001190995.1,NM_006390.3 , 475,2577,3451 TT,TC,CC 26.3488,28.6201,27.1183 , , 30783743 3527,9479 2203 4300 6503 SO:0001624 3_prime_UTR_variant U77494 CCDS8719.1, CCDS53773.1 12p11.21 2011-05-23 2003-03-11 2003-03-14 ENSG00000133704 ENSG00000133704 10526 Importins 9853 protein-coding gene gene with protein product 605600 RAN binding protein 8 RANBP8 NA 9214382 Standard NM_006390 NM_006390 NA Approved IMP8 uc001rjd.3 O15397 OTTHUMG00000169172 ENST00000544829.1:c.*51G>A chr12.hg19:g.30783743C>T NA B7Z7M3 hg19 CCDS53773.1 0.02 25.119238 CCTxTTG COVERED NOVEL IPO8-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000402699.1 1 17.260094 KEEP 0 3 90 89 3167 CC 1 1 0 - 20 60 729 0 0 44.091683 600 60 23282 923 ENST00000544829.1 0.032258 1 CAPRIN2 65981 __UNKNOWN__ __UNKNOWN__ 12 30888001 30888001 __UNKNOWN__ Missense_Mutation SNP T T C rs12146709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:30888001T>C ENST00000395805.2 - 4 1257 c.710A>G c.(709-711)aAa>aGa p.K237R CAPRIN2_ENST00000417045.1_Missense_Mutation_p.K237R|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.K237R|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.K237R|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_5'UTR NM_001206856.1 NP_001193785.1 caprin family member 2 NA NA breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CAAACCCCCTTTGAAGTCTTT 0.393 NA T||| 810 0.161741 0.0348 0.121 5008 , , NA 18804 0.2788 NA 0.2376 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 T ARG/LYS,ARG/LYS,ARG/LYS,ARG/LYS 296,4110 163.3+/-195.1 11,274,1918 191 186 188 710,710,710,710 -9.2 0.3 12 dbSNP_120 188 2217,6383 378.3+/-338.9 275,1667,2358 yes missense,missense,missense,missense CAPRIN2 NM_001002259.1,NM_001206856.1,NM_023925.3,NM_032156.3 26,26,26,26 286,1941,4276 CC,CT,TT 25.7791,6.7181,19.3219 benign,benign,benign,benign 237/1128,237/906,237/1078,237/961 30888001 2513,10493 2203 4300 6503 SO:0001583 missense AY074491 CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1 12p11 2010-08-03 2007-03-27 2007-03-27 ENSG00000110888 ENSG00000110888 65981 21259 protein-coding gene gene with protein product 610375 C1q domain containing 1 C1QDC1 NA 11347906, 14764709 Standard NM_023925 NM_001002259 NA Approved EEG1, FLJ22569, FLJ11391, caprin-2, RNG140 uc001rji.1 Q6IMN6 OTTHUMG00000169185 ENST00000395805.2:c.710A>G chr12.hg19:g.30888001T>C ENSP00000379150:p.Lys237Arg NA hg19 CCDS55816.1 0.02 29.884421 CCTxTGA COVERED 421 0.19276556776556777 21 0.042682926829268296 51 0.1408839779005525 165 0.28846153846153844 184 0.24274406332453827 T 10.57 1.387208 0.25031 0.067181 0.257791 ENSG00000110888 ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000541765;ENST00000543380;ENST00000542550 T;T;T;T;T;T;T;T 0.25250 1.81;1.81;1.81;1.81;1.81;1.81;1.81;1.81 4.61 -9.22 0.00675 . 0.756956 0.12957 N 0.425359 T 0.00012 0.0000 L 0.28115 0.83 0.22389 P 0.999147257 B;B;B;B;B 0.09022 0.001;0.001;0.001;0.002;0.0 B;B;B;B;B 0.11329 0.001;0.006;0.003;0.004;0.002 T 0.29822 -0.9999 9 0.27785 T 0.31 -0.1784 7.666 0.28432 0.0949:0.5174:0.097:0.2907 rs12146709;rs52793954;rs58167356;rs12146709 237;237;237;237;237 Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2 .;.;CAPR2_HUMAN;.;. R 237;237;237;237;156;34;34;156 ENSP00000298892:K237R;ENSP00000379150:K237R;ENSP00000251071:K237R;ENSP00000391479:K237R;ENSP00000438010:K156R;ENSP00000444137:K34R;ENSP00000440785:K34R;ENSP00000443353:K156R ENSP00000251071:K237R K - 2 0 CAPRIN2 30779268 0.015000 0.18098 0.291000 0.24904 0.966000 0.64601 -1.560000 0.02160 -2.139000 0.00807 -1.512000 0.00943 AAA NOVEL CAPRIN2-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000403322.2 4 38.81632 KEEP 0 0 0 129 4069 TT 1 1 0 - 21 60 807 0 0 50.069475 657 60 23609 982 ENST00000395805.2 0.030973 1 CAPRIN2 65981 __UNKNOWN__ __UNKNOWN__ 12 30893875 30893875 __UNKNOWN__ Intron SNP T T C rs10771762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:30893875T>C ENST00000395805.2 - 3 1118 CAPRIN2_ENST00000417045.1_Intron|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000251071.5_Intron|CAPRIN2_ENST00000308433.5_Intron NM_001206856.1 NP_001193785.1 caprin family member 2 NA NA breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACACCATTACTAGACACTGAC 0.363 NA T||| 812 0.162141 0.0348 0.121 5008 , , NA 17287 0.2788 NA 0.2376 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY074491 CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1 12p11 2010-08-03 2007-03-27 2007-03-27 ENSG00000110888 ENSG00000110888 65981 21259 protein-coding gene gene with protein product 610375 C1q domain containing 1 C1QDC1 NA 11347906, 14764709 Standard NM_023925 NM_001002259 NA Approved EEG1, FLJ22569, FLJ11391, caprin-2, RNG140 uc001rji.1 Q6IMN6 OTTHUMG00000169185 ENST00000395805.2:c.570+78A>G chr12.hg19:g.30893875T>C NA hg19 CCDS55816.1 0.02 3.785807 TACxAGA COVERED NOVEL CAPRIN2-004 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000403322.2 0 6.016289 KEEP 0 0 0 20 594 TT 0.999863 0.999858 0 - 5 60 177 0 0 11.196416 108 60 4034 150 ENST00000395805.2 0.044248 0.999995 TSPAN11 441631 __UNKNOWN__ __UNKNOWN__ 12 31145674 31145674 __UNKNOWN__ 3'UTR SNP A A G rs74084729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31145674A>G ENST00000261177.9 + 0 1645 NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GACCATCTTCAGCACCTAATG 0.567 NA A||| 296 0.0591054 0.1309 0.0159 5008 , , NA 19595 0.1052 NA 0.005 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31765.1 12p11.21 2013-02-14 ENSG00000110900 441631 Tetraspanins 30795 protein-coding gene gene with protein product NA Standard XM_497334 NM_001080509 NA Approved uc001rjp.3 A1L157 ENST00000261177.9:c.*824A>G chr12.hg19:g.31145674A>G NA A1L158|B2RUX6 hg19 CCDS31765.1 0.02 12.857716 TTCxGCA COVERED NOVEL TSPAN11-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399888.1 1 14.743144 KEEP 0 0 0 49 1518 AA 1 1 0 + 18 60 616 0 0 40.217987 298 60 11110 440 ENST00000261177.9 0.056962 1 TSPAN11 441631 __UNKNOWN__ __UNKNOWN__ 12 31146756 31146756 __UNKNOWN__ 3'UTR SNP C C T rs2287453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31146756C>T ENST00000261177.9 + 0 2727 NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTCTTCCTGCCGAGGTGCCAG 0.592 NA C||| 212 0.0423323 0.0711 0.0101 5008 , , NA 18488 0.1042 NA 0.005 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31765.1 12p11.21 2013-02-14 ENSG00000110900 441631 Tetraspanins 30795 protein-coding gene gene with protein product NA Standard XM_497334 NM_001080509 NA Approved uc001rjp.3 A1L157 ENST00000261177.9:c.*1906C>T chr12.hg19:g.31146756C>T NA A1L158|B2RUX6 hg19 CCDS31765.1 0.02 7.011899 TGCxGAG COVERED NOVEL TSPAN11-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399888.1 0 4.21299 KEEP 0 0 0 14 456 CC 0.99649 0.99649 0 + 12 60 437 0 0 31.129709 142 60 4996 195 ENST00000261177.9 0.077922 1 TSPAN11 441631 __UNKNOWN__ __UNKNOWN__ 12 31147441 31147441 __UNKNOWN__ 3'UTR SNP G G A rs35069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31147441G>A ENST00000261177.9 + 0 3412 NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCTGAGCTCGCAGGGGCAGA 0.637 NA G||| 438 0.0874601 0.0424 0.1081 5008 , , NA 17721 0.0397 NA 0.1004 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31765.1 12p11.21 2013-02-14 ENSG00000110900 441631 Tetraspanins 30795 protein-coding gene gene with protein product NA Standard XM_497334 NM_001080509 NA Approved uc001rjp.3 A1L157 ENST00000261177.9:c.*2591G>A chr12.hg19:g.31147441G>A NA A1L158|B2RUX6 hg19 CCDS31765.1 0.02 8.139974 CTCxCAG COVERED NOVEL TSPAN11-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399888.1 2 6.921982 KEEP 0 0 0 23 804 GG 0.999892 0.999892 0 + 9 60 328 0 0 20.420233 232 60 8091 321 ENST00000261177.9 0.037344 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31231138 31231138 __UNKNOWN__ Intron SNP G G T rs77842499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31231138G>T ENST00000542838.1 + 2 247 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GATGGAGTGCGTGATTCTGGT 0.502 NA Multiple Myeloma(12;0.14) G||| 178 0.0355431 0.0 0.0072 5008 , , NA 21018 0.1438 NA 0.006 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.-4-186G>T chr12.hg19:g.31231138G>T NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 6.81353 TGCxTGA COVERED 76 0.0347985347985348 0 0.0 1 0.0027624309392265192 70 0.12237762237762238 5 0.006596306068601583 G 2.410 -0.335590 0.05278 . . ENSG00000013573 ENST00000535317 T 0.51817 0.69 2.53 -5.06 0.02946 . . . . . T 0.00524 0.0017 . . . 0.09310 N 1 . . . . . . T 0.16988 -1.0384 6 0.87932 D 0 . 2.9258 0.05784 0.2288:0.1515:0.47:0.1496 . . . . L 7 ENSP00000440171:R7L ENSP00000440171:R7L R + 2 0 DDX11 31122405 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -3.622000 0.00412 -2.303000 0.00656 -1.923000 0.00514 CGT NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 1 8.727581 KEEP 1 0 0 29 990 GG 0.999997 0.999997 0 + 9 60 328 0 0 21.411856 179 60 6259 256 ENST00000542838.1 0.047872 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31237693 31237693 __UNKNOWN__ Intron SNP C C T rs79540602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31237693C>T ENST00000542838.1 + 4 731 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCCTTGGTCTCCCCTCCGTGA 0.617 NA Multiple Myeloma(12;0.14) .||| 469 0.0936502 0.1437 0.0245 5008 , , NA 18588 0.1677 NA 0.0239 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.480+90C>T chr12.hg19:g.31237693C>T NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 1.663592 TCTxCCC COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 1 3.911994 KEEP 0 0 0 13 437 CC 0.994391 0.994299 0 + 5 60 162 0 0 10.116291 89 60 3308 127 ENST00000542838.1 0.053191 0.999907 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31241850 31241850 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31241850C>A ENST00000542838.1 + 7 935 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GCTGTCCTGCCTCGGCTTTGT 0.557 NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.685-128C>A chr12.hg19:g.31241850C>A NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 6.255476 TGCxTCG COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 0 4.213199 KEEP 3 0 0 14 458 CC 0.995343 0.995343 0 + 15 47 530 0 0 38.056526 157 48 5569 191 ENST00000542838.1 0.087209 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31242307 31242307 __UNKNOWN__ Intron SNP T T C rs4031315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31242307T>C ENST00000542838.1 + 8 1043 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GGCACCATCTTTTTGCCTCTT 0.537 NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA 0 73 70 71 NA NA 12 NA 31242307 2203 4300 6503 SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.793-30T>C chr12.hg19:g.31242307T>C NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 6.842223 TCTxTTT COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 0 3.141889 KEEP 2 1 36 23 657 TT 0.999909 0.999909 0 + 7 51 263 0 0 17.139756 154 60 5500 212 ENST00000542838.1 0.043478 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31245924 31245924 __UNKNOWN__ Intron SNP C C T rs141731369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31245924C>T ENST00000542838.1 + 11 1540 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000539673.1_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) ACCTCTGGCCCGGGCTGTGGC 0.637 NA Multiple Myeloma(12;0.14) C||| 469 0.0936502 0.0023 0.1023 5008 , , NA 18114 0.2321 NA 0.0089 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.1289+98C>T chr12.hg19:g.31245924C>T NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 4.30134 GCCxGGG COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 1 7.522156 KEEP 4 0 0 25 792 CC 0.999909 0.999909 0 + 5 60 191 0 0 12.236841 128 60 4206 185 ENST00000542838.1 0.037594 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31247819 31247819 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31247819A>G ENST00000542838.1 + 14 1733 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000539673.1_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCTGTGGGTAAAGTACTATGT 0.413 NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA 0 142 124 129 NA NA 12 NA 31247819 692 1591 2283 SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.1482+63A>G chr12.hg19:g.31247819A>G NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 13.226483 GTAxAGT COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 0 4.042811 KEEP 17 1 30 24 688 AA 0.999931 0.999931 0 + 25 40 906 0 0 63.688956 317 60 11374 412 ENST00000542838.1 0.073099 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31249225 31249225 __UNKNOWN__ Intron SNP T T C rs9788047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31249225T>C ENST00000542838.1 + 15 1733 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000539673.1_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTTAAGATTATAGCTTGCTCA 0.493 NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA 0 36 56 50 NA NA 12 NA 31249225 2063 4210 6273 SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.1483-50T>C chr12.hg19:g.31249225T>C NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 4.86735 TTAxAGC COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 1 3.944718 KEEP 6 1 34 25 755 TT 0.999957 0.999957 0 + 25 40 900 0 0 72.983756 120 60 4394 218 ENST00000542838.1 0.172414 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31249244 31249244 __UNKNOWN__ Intron SNP T T A rs9788048 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31249244T>A ENST00000542838.1 + 15 1733 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000539673.1_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CAGTTTGCACTCATGCCTACA 0.478 NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA 0 47 73 64 NA NA 12 NA 31249244 2120 4246 6366 SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.1483-31T>A chr12.hg19:g.31249244T>A NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 6.677125 CACxCAT COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 2 9.001273 KEEP 10 0 0 30 943 TT 0.999997 0.999997 0 + 24 40 883 0 0 70.813209 130 60 4863 257 ENST00000542838.1 0.155844 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31249319 31249319 __UNKNOWN__ Intron SNP T T C rs71455621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31249319T>C ENST00000542838.1 + 15 1772 DDX11_ENST00000545668.1_Intron|DDX11_ENST00000350437.4_Intron|DDX11_ENST00000251758.5_Intron|DDX11_ENST00000539673.1_Intron|DDX11_ENST00000228264.6_Intron|DDX11_ENST00000407793.2_Intron Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAAGGTAACTGCTCCCATCT 0.542 NA Multiple Myeloma(12;0.14) NA NA NA NA NA NA NA NA NA NA 0 75 94 87 NA NA 12 NA 31249319 2203 4297 6500 SO:0001627 intron_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.1521+6T>C chr12.hg19:g.31249319T>C NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 5.051583 AACxGCT COVERED NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 4 2.843245 KEEP 8 1 33 21 669 TT 0.99986 0.999859 0 + 18 47 607 0 0 46.919523 107 60 3971 184 ENST00000542838.1 0.144 1 DDX11 1663 __UNKNOWN__ __UNKNOWN__ 12 31255405 31255405 __UNKNOWN__ Silent SNP C C T rs77340729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31255405C>T ENST00000542838.1 + 23 2567 c.2316C>T c.(2314-2316)ctC>ctT p.L772L DDX11_ENST00000545668.1_Silent_p.L772L|DDX11_ENST00000350437.4_Silent_p.L722L|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.L746L|DDX11_ENST00000407793.2_Silent_p.L772L Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 772 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032) midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCTGCTCCTCTCTGTGGTTG 0.567 NA Multiple Myeloma(12;0.14) C||| 397 0.0792732 0.1029 0.0245 5008 , , NA 17510 0.1508 NA 0.0239 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 C ,, 376,4030 186.0+/-213.0 15,346,1842 70 76 74 2166,2316,2316 0.4 1 12 dbSNP_131 74 252,8348 96.6+/-158.3 3,246,4051 no coding-synonymous,coding-synonymous,coding-synonymous DDX11 NM_004399.2,NM_030653.3,NM_152438.1 ,, 18,592,5893 TT,TC,CC 2.9302,8.5338,4.8285 ,, 722/857,772/907,772/971 31255405 628,12378 2203 4300 6503 SO:0001819 synonymous_variant U75969 CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1 12p11.21 2012-02-23 2012-02-23 ENSG00000013573 ENSG00000013573 1663 DEAD-boxes 2736 protein-coding gene gene with protein product CHL1-like helicase homolog (S. cerevisiae) 601150 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase), DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 NA Standard NM_030653 NM_030653 NA Approved CHLR1, KRG2, CHL1, ChlR1, WABS uc001rjv.2 Q96FC9 OTTHUMG00000168435 ENST00000542838.1:c.2316C>T chr12.hg19:g.31255405C>T NA Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999 hg19 CCDS41767.1 0.02 8.376013 CCTxTCT COVERED 156 0.07142857142857142 53 0.10772357723577236 7 0.019337016574585635 78 0.13636363636363635 18 0.023746701846965697 C 4.645 0.119826 0.08881 0.085338 0.029302 ENSG00000013573 ENST00000539702 . . . 3.55 0.419 0.16438 . . . . . T 0.00328 0.0010 . . . 0.09310 P 0.9999999999996162 . . . . . . T 0.12656 -1.0539 3 . . . . 7.0871 0.25264 0.0:0.5712:0.3264:0.1024 . . . . F 38 . . S + 2 0 DDX11 31146672 0.995000 0.38212 0.996000 0.52242 0.246000 0.25737 0.292000 0.19011 0.185000 0.20105 -0.241000 0.12123 TCT NOVEL DDX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399721.1 2 13.243264 KEEP 0 0 0 44 1586 CC 1 1 0 + 8 49 297 0 0 18.175413 240 52 9063 338 ENST00000542838.1 0.032258 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 31285214 31285214 __UNKNOWN__ IGR SNP A A G rs2287450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31285214A>G NA NA RP11-551L14.1 (14809 upstream) : FAM60A (148303 downstream) NA NA NA TGACCCTTCTACTACATCATT 0.378 NA A||| 1085 0.216653 0.2262 0.17 5008 , , NA 17613 0.371 NA 0.1014 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 A ALA/VAL 782,2864 71,640,1112 48 45 46 2783 1.5 0 12 dbSNP_100 46 870,7282 47,776,3253 no missense OVOS2 XM_002343151.2 64 118,1416,4365 GG,GA,AA 10.6722,21.4482,14.0024 probably-damaging 928/1395 31285214 1652,10146 1823 4076 5899 SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.31285214A>G NA hg19 0.02 9.283117 TCTxCTA COVERED NOVEL 0 0 10.532109 KEEP 0 0 0 35 1103 AA 0.999999 0.999999 0 13 60 508 0 0 34.888677 234 60 8414 360 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 31291163 31291163 __UNKNOWN__ IGR SNP G G A rs78835222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31291163G>A NA NA RP11-551L14.1 (20758 upstream) : FAM60A (142354 downstream) NA NA p.R667*(1) NA TCTGGTTTTCGGTAATGGAGA 0.378 NA G||| 976 0.194888 0.2254 0.1686 5008 , , NA 16249 0.2669 NA 0.1014 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 1 Substitution - Nonsense(1) stomach(1) G stop/ARG 781,2889 74,633,1128 79 78 79 1999 1.9 1 12 dbSNP_131 79 850,7322 48,754,3284 no stop-gained OVOS2 XM_002343151.2 122,1387,4412 AA,AG,GG 10.4014,21.2807,13.773 667/1395 31291163 1631,10211 1835 4086 5921 SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.31291163G>A NA hg19 0.02 5.719383 TTCxGTA COVERED NOVEL 0 2 2.943579 KEEP 0 1 32 21 689 GG 0.999879 0.999879 0 8 60 274 0 0 16.666565 191 60 6836 267 0.040201 1 DENND5B 160518 __UNKNOWN__ __UNKNOWN__ 12 31539303 31539303 __UNKNOWN__ 3'UTR SNP G G T rs708200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31539303G>T ENST00000389082.5 - 0 5323 DENND5B_ENST00000306833.6_3'UTR NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B NA NA positive regulation of Rab GTPase activity (GO:0032851) integral component of membrane (GO:0016021)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ACAACTTTTGGTCTTTCAAAA 0.383 NA G||| 1128 0.22524 0.149 0.2133 5008 , , NA 20572 0.1121 NA 0.3917 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF086301 CCDS44857.1 12p11.21 2012-10-03 ENSG00000170456 ENSG00000170456 160518 DENN/MADD domain containing 28338 protein-coding gene gene with protein product NA 12477932 Standard NM_144973 NM_144973 NA Approved MGC24039 uc001rki.1 Q6ZUT9 OTTHUMG00000169034 ENST00000389082.5:c.*1234C>A chr12.hg19:g.31539303G>T NA B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8 hg19 CCDS44857.1 0.02 7.09519 TTGxTCT COVERED NOVEL DENND5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402040.1 0 4.814955 KEEP 0 0 0 16 536 GG 0.997832 0.997832 0 - 8 60 271 0 0 15.772815 227 60 8294 256 ENST00000389082.5 0.034043 1 DENND5B 160518 __UNKNOWN__ __UNKNOWN__ 12 31586007 31586007 __UNKNOWN__ Intron SNP C C T rs2682695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31586007C>T ENST00000389082.5 - 8 2371 DENND5B_ENST00000536562.1_Intron|DENND5B_ENST00000354285.4_3'UTR|DENND5B_ENST00000306833.6_Intron NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B NA NA positive regulation of Rab GTPase activity (GO:0032851) integral component of membrane (GO:0016021)|membrane (GO:0016020) Rab guanyl-nucleotide exchange factor activity (GO:0017112) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CATTAAGAATCTACACAATGA 0.378 NA C||| 665 0.132788 0.0877 0.0793 5008 , , NA 15417 0.1062 NA 0.2177 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF086301 CCDS44857.1 12p11.21 2012-10-03 ENSG00000170456 ENSG00000170456 160518 DENN/MADD domain containing 28338 protein-coding gene gene with protein product NA 12477932 Standard NM_144973 NM_144973 NA Approved MGC24039 uc001rki.1 Q6ZUT9 OTTHUMG00000169034 ENST00000389082.5:c.2106+81G>A chr12.hg19:g.31586007C>T NA B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8 hg19 CCDS44857.1 0.02 13.97981 AATxTAC COVERED NOVEL DENND5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402040.1 2 23.398541 KEEP 0 1 35 90 3168 CC 1 1 0 - 10 60 361 0 0 21.064701 348 60 12978 527 ENST00000389082.5 0.027933 1 DENND5B-AS1 100874249 __UNKNOWN__ __UNKNOWN__ 12 31766895 31766895 __UNKNOWN__ RNA SNP C C T rs55856925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31766895C>T ENST00000537346.1 + 0 599 DENND5B-AS1_ENST00000536397.1_RNA DENND5B antisense RNA 1 NA NA NA ATATAATGCACTGACGATTCA 0.383 NA -||| 1557 0.310903 0.2723 0.1988 5008 , , NA 19907 0.4038 NA 0.3002 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 12p11.21 2012-10-12 2012-08-15 ENSG00000255867 ENSG00000255867 100874249 Long non-coding RNAs 42517 non-coding RNA RNA, long non-coding DENND5B antisense RNA 1 (non-protein coding) NA Standard NR_046909 NA Approved uc031qgx.1 OTTHUMG00000169083 ENST00000537346.1: chr12.hg19:g.31766895C>T NA hg19 0.02 6.940289 GCAxTGA UNCOVERED NOVEL DENND5B-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000402191.1 2 2.407639 KEEP 6 0 0 8 267 CC 0 0 0 + 10 47 342 0 0 22.329449 175 48 6473 201 ENST00000537346.1 0.054054 1 H3F3C 440093 __UNKNOWN__ __UNKNOWN__ 12 31944985 31944985 __UNKNOWN__ Missense_Mutation SNP T T G rs3759295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:31944985T>G ENST00000340398.3 - 1 190 c.116A>C c.(115-117)cAt>cCt p.H39P NM_001013699.2 NP_001013721.2 Q6NXT2 H3C_HUMAN H3 histone, family 3C 39 NA H -> R (in dbSNP:rs3759295). positive regulation of cell growth (GO:0030307) nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786) nucleosomal DNA binding (GO:0031492) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 CCTGTAGCGATGAGGCTTCAC 0.607 NA HNSCC(67;0.2) T||| 419 0.0836661 0.0628 0.0865 5008 , , NA 18110 0.125 NA 0.0457 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 T PRO/HIS 238,4168 138.0+/-173.8 6,226,1971 59 57 58 116 -0.6 0 12 dbSNP_107 58 520,8080 145.1+/-200.9 22,476,3802 yes missense H3F3C NM_001013699.2 77 28,702,5773 GG,GT,TT 6.0465,5.4017,5.8281 possibly-damaging 39/136 31944985 758,12248 2203 4300 6503 SO:0001583 missense BC066906 CCDS31769.1 12p11.21 2012-02-15 ENSG00000188375 ENSG00000188375 440093 Histones / Replication-independent 33164 protein-coding gene gene with protein product NA 21274551 Standard NM_001013699 NM_001013699 NA Approved H3.5 uc001rkr.3 Q6NXT2 OTTHUMG00000157811 ENST00000340398.3:c.116A>C chr12.hg19:g.31944985T>G ENSP00000339835:p.His39Pro NA E9P281 hg19 CCDS31769.1 0.02 22.085977 CGAxGAG COVERED 172 0.07875457875457875 28 0.056910569105691054 40 0.11049723756906077 67 0.11713286713286714 37 0.048812664907651716 T 5.810 0.333771 0.11013 0.054017 0.060465 ENSG00000188375 ENST00000340398 T 0.43294 0.95 0.999 -0.607 0.11615 Histone-fold (2); 0.120915 0.31071 U 0.008303 T 0.00967 0.0032 H 0.96805 3.885 0.33580 P 0.400238 B 0.12630 0.006 B 0.20184 0.028 T 0.21381 -1.0247 9 0.87932 D 0 . 4.8627 0.13592 0.0:0.0:0.3154:0.6846 rs3759295;rs16915863;rs52819387;rs59705847;rs3759295 39 Q6NXT2 H3C_HUMAN P 39 ENSP00000339835:H39P ENSP00000339835:H39P H - 2 0 H3F3C 31836252 1.000000 0.71417 0.000000 0.03702 0.031000 0.12232 2.945000 0.49043 -0.138000 0.11434 0.338000 0.21704 CAT NOVEL H3F3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000349653.1 2 49.645559 KEEP 0 0 0 165 5110 TT 1 1 0 - 17 60 608 0 0 36.220152 518 60 18920 895 ENST00000340398.3 0.031776 1 KIAA1551 55196 __UNKNOWN__ __UNKNOWN__ 12 32136546 32136546 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32136546G>A ENST00000312561.4 + 4 3071 c.2657G>A c.(2656-2658)aGt>aAt p.S886N KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 Q9HCM1 K1551_HUMAN KIAA1551 886 NA NA ACTGTTGTGAGTAGTGATACA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 108 101 103 NA NA 12 NA 32136546 2203 4300 6503 SO:0001583 missense AK001514 CCDS8725.2 12p11.21 2012-08-14 2012-08-14 2012-08-14 ENSG00000174718 ENSG00000174718 55196 25559 protein-coding gene gene with protein product chromosome 12 open reading frame 35 C12orf35 NA 10997877 Standard NM_018169 NM_018169 NA Approved FLJ20696, FLJ10652 uc001rks.3 Q9HCM1 OTTHUMG00000128501 ENST00000312561.4:c.2657G>A chr12.hg19:g.32136546G>A ENSP00000310338:p.Ser886Asn NA B2RTU5|Q4KN17|Q9NVL6|Q9NWP9 hg19 CCDS8725.2 0.02 10.230877 TGAxTAG COVERED . . . . . . . . . . G 11.69 1.713238 0.30413 . . ENSG00000174718 ENST00000312561 T 0.12569 2.67 5.67 -1.73 0.08081 . 1.008710 0.07947 N 0.980223 T 0.09024 0.0223 L 0.31926 0.97 0.09310 N 1 B 0.14438 0.01 B 0.13407 0.009 T 0.41840 -0.9486 9 . . . . 5.2829 0.15686 0.4305:0.2624:0.3071:0.0 . 886 Q9HCM1 CL035_HUMAN N 886 ENSP00000310338:S886N . S + 2 0 C12orf35 32027813 0.000000 0.05858 0.000000 0.03702 0.165000 0.22458 -0.111000 0.10807 -0.133000 0.11537 -0.844000 0.03045 AGT NOVEL KIAA1551-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250307.2 3 7.825165 KEEP 0 0 0 26 939 GG 0.999957 0.999957 0 + 8 60 282 0 0 16.627022 244 60 9132 306 ENST00000312561.4 0.031746 1 KIAA1551 55196 __UNKNOWN__ __UNKNOWN__ 12 32137901 32137901 __UNKNOWN__ Missense_Mutation SNP A A G rs3759296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32137901A>G ENST00000312561.4 + 4 4426 c.4012A>G c.(4012-4014)Aca>Gca p.T1338A KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 Q9HCM1 K1551_HUMAN KIAA1551 1338 NA T -> A (in dbSNP:rs3759296). p.T1338A(1) NA AAAAACAAAAACAGCTTTTTT 0.348 NA A||| 129 0.0257588 0.0 0.0173 5008 , , NA 19912 0.1111 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A ALA/THR 3,4403 8.1+/-20.4 0,3,2200 86 90 88 4012 -8.8 0 12 dbSNP_107 88 8,8592 5.7+/-21.5 0,8,4292 yes missense C12orf35 NM_018169.3 58 0,11,6492 GG,GA,AA 0.093,0.0681,0.0846 benign 1338/1748 32137901 11,12995 2203 4300 6503 SO:0001583 missense AK001514 CCDS8725.2 12p11.21 2012-08-14 2012-08-14 2012-08-14 ENSG00000174718 ENSG00000174718 55196 25559 protein-coding gene gene with protein product chromosome 12 open reading frame 35 C12orf35 NA 10997877 Standard NM_018169 NM_018169 NA Approved FLJ20696, FLJ10652 uc001rks.3 Q9HCM1 OTTHUMG00000128501 ENST00000312561.4:c.4012A>G chr12.hg19:g.32137901A>G ENSP00000310338:p.Thr1338Ala NA B2RTU5|Q4KN17|Q9NVL6|Q9NWP9 hg19 CCDS8725.2 0.02 9.306124 AAAxCAG COVERED 62 0.028388278388278388 0 0.0 7 0.019337016574585635 54 0.0944055944055944 1 0.0013192612137203166 A 8.903 0.956892 0.18507 6.81E-4 9.3E-4 ENSG00000174718 ENST00000312561 T 0.11821 2.74 5.3 -8.75 0.00834 . 2.186560 0.01601 N 0.022031 T 0.00241 0.0007 N 0.08118 0 0.09310 N 1 B 0.17667 0.023 B 0.12837 0.008 T 0.26258 -1.0108 9 . . . . 5.0984 0.14747 0.216:0.2115:0.4686:0.1039 rs3759296;rs3759296 1338 Q9HCM1 CL035_HUMAN A 1338 ENSP00000310338:T1338A . T + 1 0 C12orf35 32029168 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -2.164000 0.01275 -1.463000 0.01904 0.460000 0.39030 ACA NOVEL KIAA1551-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250307.2 6 21.05932 KEEP 0 0 0 70 2149 AA 1 1 0 + 8 60 305 1 0 19.195543 225 60 8044 362 ENST00000312561.4 0.034335 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 32205544 32205544 __UNKNOWN__ IGR SNP T T C rs114437153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32205544T>C NA NA KIAA1551 (59505 upstream) : RP11-843B15.2 (51506 downstream) NA NA NA gtgaatgctatactgcatgtg 0.388 NA T||| 650 0.129792 0.0983 0.0447 5008 , , NA 22124 0.2877 NA 0.0249 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.32205544T>C NA hg19 0.02 4.177102 CTAxACT COVERED NOVEL 0 1 13.238313 KEEP 0 0 0 44 1346 TT 1 1 0 6 60 227 0 0 14.661502 142 60 5188 238 0.040541 1 BICD1 636 __UNKNOWN__ __UNKNOWN__ 12 32530580 32530580 __UNKNOWN__ 3'UTR SNP G G A rs11051966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32530580G>A ENST00000281474.5 + 0 3050 BICD1_ENST00000548411.1_3'UTR NM_001714.2 NP_001705.2 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) NA NA anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032) cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802) cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) TCCTGTGGACGAACATCTGGG 0.532 NA G||| 393 0.0784744 0.034 0.1167 5008 , , NA 17944 0.0635 NA 0.1243 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G , 165,4241 111.2+/-149.4 3,159,2041 126 104 112 , 0.8 0 12 dbSNP_120 112 1058,7542 223.8+/-260.4 59,940,3301 no utr-3,utr-3 BICD1 NM_001003398.1,NM_001714.2 , 62,1099,5342 AA,AG,GG 12.3023,3.7449,9.4034 , , 32530580 1223,11783 2203 4300 6503 SO:0001624 3_prime_UTR_variant U90028 CCDS8726.1, CCDS44859.1 12p11.2-p11.1 2005-01-13 2001-11-28 ENSG00000151746 636 1049 protein-coding gene gene with protein product 602204 Bicaudal D (Drosophila) homolog 1 NA 9367685 Standard NM_001714 NM_001714 NA Approved uc001rku.3 Q96G01 OTTHUMG00000169307 ENST00000281474.5:c.*19G>A chr12.hg19:g.32530580G>A NA A8K2C3|F8W113|O43892|O43893 hg19 CCDS8726.1 0.02 12.366651 GACxAAC COVERED NOVEL BICD1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403380.1 3 13.37362 KEEP 0 1 21 52 1715 GG 1 1 0 + 12 60 419 0 0 25.505525 303 60 11046 408 ENST00000281474.5 0.038095 1 FGD4 121512 __UNKNOWN__ __UNKNOWN__ 12 32560025 32560025 __UNKNOWN__ Intron SNP A A G rs2651365 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32560025A>G ENST00000534526.2 + 1 431 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) gattacaggcatgagccacca 0.512 NA G||| 2865 0.572085 0.7602 0.5014 5008 , , NA 13593 0.5843 NA 0.4602 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057294 CCDS8727.1 12p11.1 2014-09-17 2004-08-24 ENSG00000139132 ENSG00000139132 121512 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19125 protein-coding gene gene with protein product 611104 FGD1 family, member 4 NA 11527409 Standard NM_139241 NM_139241 NA Approved FRABP, frabin, ZFYVE6, CMT4H uc001rkz.3 Q96M96 OTTHUMG00000137374 ENST00000534526.2:c.166+7132A>G chr12.hg19:g.32560025A>G NA Q6ULS2|Q8TCP6 hg19 0.02 -0.035092 GGCxTGA UNCOVERED NOVEL FGD4-013 PUTATIVE not_organism_supported|basic protein_coding NA protein_coding OTTHUMT00000404118.1 1 2.407042 KEEP 0 0 0 8 240 AA 0.99257 0.019833 0 + 3 60 106 0 0 11.054189 1 60 38 15 ENST00000534526.2 0.75 0.019982 FGD4 121512 __UNKNOWN__ __UNKNOWN__ 12 32794600 32794600 __UNKNOWN__ 3'UTR SNP A A C rs10844268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32794600A>C ENST00000427716.2 + 0 3858 NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CATTTATCGTAATGTTTTTCT 0.348 NA A||| 1811 0.361621 0.4539 0.3098 5008 , , NA 20435 0.2024 NA 0.334 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057294 CCDS8727.1 12p11.1 2014-09-17 2004-08-24 ENSG00000139132 ENSG00000139132 121512 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19125 protein-coding gene gene with protein product 611104 FGD1 family, member 4 NA 11527409 Standard NM_139241 NM_139241 NA Approved FRABP, frabin, ZFYVE6, CMT4H uc001rkz.3 Q96M96 OTTHUMG00000137374 ENST00000427716.2:c.*1133A>C chr12.hg19:g.32794600A>C NA Q6ULS2|Q8TCP6 hg19 CCDS8727.1 0.02 14.062767 CGTxATG COVERED NOVEL FGD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268017.1 1 16.248016 KEEP 0 0 0 54 1654 AA 1 1 0 + 12 60 436 0 0 27.392765 303 60 10885 440 ENST00000427716.2 0.038095 1 FGD4 121512 __UNKNOWN__ __UNKNOWN__ 12 32794921 32794921 __UNKNOWN__ 3'UTR SNP A A G rs7964947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32794921A>G ENST00000427716.2 + 0 4179 NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) AATCTACAAGAATGATCCCAC 0.303 NA A||| 1588 0.317093 0.3578 0.2939 5008 , , NA 19873 0.1974 NA 0.3211 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057294 CCDS8727.1 12p11.1 2014-09-17 2004-08-24 ENSG00000139132 ENSG00000139132 121512 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19125 protein-coding gene gene with protein product 611104 FGD1 family, member 4 NA 11527409 Standard NM_139241 NM_139241 NA Approved FRABP, frabin, ZFYVE6, CMT4H uc001rkz.3 Q96M96 OTTHUMG00000137374 ENST00000427716.2:c.*1454A>G chr12.hg19:g.32794921A>G NA Q6ULS2|Q8TCP6 hg19 CCDS8727.1 0.02 9.461282 AAGxATG COVERED NOVEL FGD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268017.1 3 14.743443 KEEP 0 0 0 49 1554 AA 1 1 0 + 12 60 449 0 0 30.812204 192 60 6985 305 ENST00000427716.2 0.058824 1 FGD4 121512 __UNKNOWN__ __UNKNOWN__ 12 32794959 32794959 __UNKNOWN__ 3'UTR SNP T T G rs7980205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:32794959T>G ENST00000427716.2 + 0 4217 NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GATTACACCTTAGATATAGAA 0.343 NA T||| 1812 0.361821 0.4554 0.3098 5008 , , NA 19079 0.2014 NA 0.334 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057294 CCDS8727.1 12p11.1 2014-09-17 2004-08-24 ENSG00000139132 ENSG00000139132 121512 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 19125 protein-coding gene gene with protein product 611104 FGD1 family, member 4 NA 11527409 Standard NM_139241 NM_139241 NA Approved FRABP, frabin, ZFYVE6, CMT4H uc001rkz.3 Q96M96 OTTHUMG00000137374 ENST00000427716.2:c.*1492T>G chr12.hg19:g.32794959T>G NA Q6ULS2|Q8TCP6 hg19 CCDS8727.1 0.02 9.302785 CCTxAGA COVERED NOVEL FGD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268017.1 2 17.149211 KEEP 0 0 0 57 1741 TT 1 1 0 + 12 60 463 0 0 31.779793 209 60 7496 335 ENST00000427716.2 0.054299 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 33092611 33092611 __UNKNOWN__ IGR SNP C C T rs4489832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:33092611C>T NA NA PKP2 (42837 upstream) : RP11-267D19.1 (49085 downstream) NA NA NA ccaccacgcccggccTGAATG 0.502 NA C||| 621 0.124002 0.0333 0.1744 5008 , , NA 17465 0.0784 NA 0.2425 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.33092611C>T NA hg19 0.02 -0.043865 GCCxGGC UNCOVERED NOVEL 0 3 2.706401 KEEP 0 0 0 9 288 CC 0.99254 0.023894 0 3 60 113 0 0 11.269952 2 60 68 15 0.6 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 33129587 33129587 __UNKNOWN__ IGR SNP C C T rs10844416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:33129587C>T NA NA PKP2 (79813 upstream) : RP11-267D19.1 (12109 downstream) NA NA NA catgagccaccgcacccagcc 0.473 NA C||| 688 0.13738 0.0673 0.1801 5008 , , NA 16309 0.0942 NA 0.2416 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.33129587C>T NA hg19 0.02 -0.070186 CACxGCA UNCOVERED NOVEL 0 1 2.407321 KEEP 0 0 0 8 270 CC 0.99257 0.053735 0 4 60 152 0 0 15.032352 3 60 107 24 0.571429 0.054137 SYT10 341359 __UNKNOWN__ __UNKNOWN__ 12 33592681 33592681 __UNKNOWN__ 5'UTR SNP C C G rs7309229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:33592681C>G ENST00000228567.3 - 0 73 NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X NA NA regulation of calcium ion-dependent exocytosis (GO:0017158) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) metal ion binding (GO:0046872)|transporter activity (GO:0005215) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGCGGCTGCCGCGAGGTTTG 0.706 NA G||| 3392 0.677316 0.7632 0.5058 5008 , , NA 8550 0.874 NA 0.4891 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY198413 CCDS8732.1 12p11 2013-01-21 ENSG00000110975 ENSG00000110975 341359 Synaptotagmins 19266 protein-coding gene gene with protein product NA Standard NM_198992 NM_198992 NA Approved uc001rll.1 Q6XYQ8 OTTHUMG00000169269 ENST00000228567.3:c.-224G>C chr12.hg19:g.33592681C>G NA Q495U2 hg19 CCDS8732.1 0.02 1.620579 TGCxGCG COVERED NOVEL SYT10-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403222.1 1 6.621209 KEEP 0 0 0 22 755 CC 0.999879 0.999835 0 - 6 60 190 0 0 12.047839 93 60 3159 153 ENST00000228567.3 0.060606 0.999956 CPNE8 144402 __UNKNOWN__ __UNKNOWN__ 12 39064484 39064484 __UNKNOWN__ Intron SNP A A G rs77100936 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:39064484A>G ENST00000331366.5 - 19 1603 CPNE8_ENST00000538596.2_Intron|CPNE8_ENST00000546603.1_Intron|CPNE8_ENST00000360449.3_Intron NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII NA NA extracellular vesicular exosome (GO:0070062) NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AAAGATCCCAATGATATTTTC 0.289 NA A||| 393 0.0784744 0.0567 0.1037 5008 , , NA 15510 0.1577 NA 0.003 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 A 238,4162 131.0+/-167.6 8,222,1970 48 48 48 -1.9 0 12 dbSNP_131 48 15,8567 9.1+/-34.3 0,15,4276 no intron CPNE8 NM_153634.2 8,237,6246 GG,GA,AA 0.1748,5.4091,1.9489 39064484 253,12729 2200 4291 6491 SO:0001627 intron_variant AY177785 CCDS8733.1 12q12 2008-02-05 ENSG00000139117 144402 23498 protein-coding gene gene with protein product NA 12670487 Standard NM_153634 NM_153634 NA Approved uc001rls.1 Q86YQ8 OTTHUMG00000169396 ENST00000331366.5:c.1506+46T>C chr12.hg19:g.39064484A>G NA Q2TB41|Q86VY2 hg19 CCDS8733.1 0.02 2.206545 CCAxTGA COVERED NOVEL CPNE8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403856.1 0 5.417262 KEEP 0 0 0 18 602 AA 0.999859 0.999663 0 - 4 60 157 0 0 10.523139 85 60 3044 121 ENST00000331366.5 0.044944 0.999804 CPNE8 144402 __UNKNOWN__ __UNKNOWN__ 12 39117443 39117443 __UNKNOWN__ Intron SNP G G A rs80295998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:39117443G>A ENST00000331366.5 - 13 1011 CPNE8_ENST00000360449.3_Intron NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII NA NA extracellular vesicular exosome (GO:0070062) NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) ATCTGAAACAGAAGTCTAATA 0.328 NA G||| 379 0.0756789 0.056 0.1037 5008 , , NA 16427 0.1369 NA 0.003 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY177785 CCDS8733.1 12q12 2008-02-05 ENSG00000139117 144402 23498 protein-coding gene gene with protein product NA 12670487 Standard NM_153634 NM_153634 NA Approved uc001rls.1 Q86YQ8 OTTHUMG00000169396 ENST00000331366.5:c.914+130C>T chr12.hg19:g.39117443G>A NA Q2TB41|Q86VY2 hg19 CCDS8733.1 0.02 7.835516 ACAxAAG COVERED NOVEL CPNE8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403856.1 2 11.136347 KEEP 0 0 0 37 1321 GG 1 1 0 - 10 60 358 0 0 22.714535 220 60 8431 295 ENST00000331366.5 0.043478 1 CPNE8 144402 __UNKNOWN__ __UNKNOWN__ 12 39154733 39154733 __UNKNOWN__ Intron SNP T T A rs862332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:39154733T>A ENST00000331366.5 - 10 777 CPNE8_ENST00000360449.3_Intron NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII NA NA extracellular vesicular exosome (GO:0070062) NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CTTAGTAAGATCAAAATAATG 0.294 NA T||| 820 0.163738 0.121 0.2579 5008 , , NA 17382 0.2341 NA 0.0686 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T 461,3945 219.1+/-236.9 26,409,1768 77 71 73 -4.1 0 12 dbSNP_86 73 642,7954 163.9+/-216.4 28,586,3684 no intron CPNE8 NM_153634.2 54,995,5452 AA,AT,TT 7.4686,10.463,8.4833 39154733 1103,11899 2203 4298 6501 SO:0001627 intron_variant AY177785 CCDS8733.1 12q12 2008-02-05 ENSG00000139117 144402 23498 protein-coding gene gene with protein product NA 12670487 Standard NM_153634 NM_153634 NA Approved uc001rls.1 Q86YQ8 OTTHUMG00000169396 ENST00000331366.5:c.681-43A>T chr12.hg19:g.39154733T>A NA Q2TB41|Q86VY2 hg19 CCDS8733.1 0.02 5.898708 AGAxCAA COVERED NOVEL CPNE8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403856.1 1 3.912041 KEEP 0 0 0 13 422 TT 0.994391 0.994391 0 - 9 60 316 0 0 20.169447 181 60 6482 226 ENST00000331366.5 0.047368 1 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40149382 40149382 __UNKNOWN__ 3'UTR SNP G G T rs11173440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40149382G>T ENST00000280871.4 - 0 6443 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) ACCTTTAAATGAGATGGAATA 0.323 NA HNSCC(50;0.14) G||| 1063 0.21226 0.0703 0.1758 5008 , , NA 14101 0.4296 NA 0.1282 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*4446C>A chr12.hg19:g.40149382G>T NA Q17S07 hg19 CCDS8736.2 0.02 2.118935 AATxAGA COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 0 4.213835 KEEP 0 0 0 14 501 GG 0.995343 0.995299 0 - 4 60 147 0 0 9.336094 95 60 3591 132 ENST00000280871.4 0.040404 0.999956 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40150686 40150686 __UNKNOWN__ 3'UTR SNP G G A rs11173446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40150686G>A ENST00000280871.4 - 0 5139 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) AAAAATAGTCGGTATTCTCAT 0.269 NA HNSCC(50;0.14) G||| 1063 0.21226 0.0703 0.1758 5008 , , NA 12862 0.4296 NA 0.1282 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*3142C>T chr12.hg19:g.40150686G>A NA Q17S07 hg19 CCDS8736.2 0.02 6.780325 GTCxGTA COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 3 12.035268 KEEP 0 0 0 40 1350 GG 1 1 0 - 11 60 418 0 0 29.382157 158 60 5617 261 ENST00000280871.4 0.065089 1 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40152370 40152370 __UNKNOWN__ 3'UTR SNP T T C rs79519820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40152370T>C ENST00000280871.4 - 0 3455 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) GTACATACTATATAGTTCTTA 0.303 NA HNSCC(50;0.14) T||| 1065 0.21266 0.0703 0.1758 5008 , , NA 16710 0.4306 NA 0.1292 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*1458A>G chr12.hg19:g.40152370T>C NA Q17S07 hg19 CCDS8736.2 0.02 9.637518 CTAxATA COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 0 12.634949 KEEP 0 0 0 42 1283 TT 1 1 0 - 16 60 616 0 0 44.401991 202 60 7347 308 ENST00000280871.4 0.073394 1 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40153540 40153540 __UNKNOWN__ 3'UTR SNP T T C rs11173459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40153540T>C ENST00000280871.4 - 0 2285 NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) ACCACTGAAGTCACTGGGTAC 0.269 NA HNSCC(50;0.14) T||| 1064 0.21246 0.0703 0.1758 5008 , , NA 16712 0.4306 NA 0.1282 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.*288A>G chr12.hg19:g.40153540T>C NA Q17S07 hg19 CCDS8736.2 0.02 7.327333 AAGxCAC COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 3 15.045643 KEEP 0 0 0 50 1592 TT 1 1 0 - 12 60 446 0 0 31.34732 163 60 5719 289 ENST00000280871.4 0.068571 1 SLC2A13 114134 __UNKNOWN__ __UNKNOWN__ 12 40344618 40344618 __UNKNOWN__ Intron SNP G G A rs535652436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40344618G>A ENST00000280871.4 - 4 1085 SLC2A13_ENST00000380858.1_3'UTR NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TATAATAAACGTACTTCTACT 0.388 NA HNSCC(50;0.14) G||| 2 0.000399361 0.0 0.0 5008 , , NA 19214 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ315644 CCDS8736.2 12q12 2013-05-22 ENSG00000151229 ENSG00000151229 114134 Solute carriers 15956 protein-coding gene gene with protein product H(+)-myo-inositol symporter 611036 NA 11500374 Standard NM_052885 NA Approved HMIT uc010skm.2 Q96QE2 OTTHUMG00000059743 ENST00000280871.4:c.1034+440C>T chr12.hg19:g.40344618G>A NA Q17S07 hg19 CCDS8736.2 0.02 8.573549 AACxTAC COVERED NOVEL SLC2A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132849.2 0 2.442703 KEEP 0 1 31 19 668 GG 0.999863 0.999863 0 - 10 60 373 0 0 24.082738 227 60 7846 307 ENST00000280871.4 0.042194 1 LRRK2 120892 __UNKNOWN__ __UNKNOWN__ 12 40742254 40742254 __UNKNOWN__ Silent SNP G G A rs10878405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40742254G>A ENST00000298910.7 + 43 6382 c.6324G>A c.(6322-6324)gaG>gaA p.E2108E NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2108 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028) axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802) actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTATGGTTGAGAAATTAATTA 0.308 NA G||| 1371 0.273762 0.1241 0.2349 5008 , , NA 14989 0.3383 NA 0.3231 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 G 646,3760 272.8+/-271.0 46,554,1603 87 86 86 6324 3.2 1 12 dbSNP_120 86 2684,5914 427.6+/-355.6 408,1868,2023 no coding-synonymous LRRK2 NM_198578.3 454,2422,3626 AA,AG,GG 31.2166,14.6618,25.6075 2108/2528 40742254 3330,9674 2203 4299 6502 SO:0001819 synonymous_variant AK026776 CCDS31774.1 12q12 2011-07-21 ENSG00000188906 ENSG00000188906 120892 Parkinson disease 18618 protein-coding gene gene with protein product 609007 Parkinson disease (autosomal dominant) 8 PARK8 NA 15541308 Standard XM_058513 NM_198578 NA Approved ROCO2, DKFZp434H2111, FLJ45829, RIPK7 uc001rmg.4 Q5S007 OTTHUMG00000059742 ENST00000298910.7:c.6324G>A chr12.hg19:g.40742254G>A NA A6NJU2|Q6ZS50|Q8NCX9 hg19 CCDS31774.1 0.02 2.338119 TGAxAAA COVERED NOVEL LRRK2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277179.1 0 2.70892 KEEP 0 0 0 9 327 GG 0.99254 0.990754 0 + 6 60 226 0 0 16.420665 68 60 2611 107 ENST00000298910.7 0.081081 0.9982 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40912162 40912162 __UNKNOWN__ Intron SNP T T C rs17128391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40912162T>C ENST00000454784.4 + 50 17408 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 GTTTTCTGTGTGAACGTGCGT 0.448 NA T||| 774 0.154553 0.351 0.111 5008 , , NA 19360 0.0188 NA 0.175 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-24202T>C chr12.hg19:g.40912162T>C NA Q8NA85 hg19 0.02 10.310606 GTGxGAA COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 0 5.350665 KEEP 0 1 35 30 929 TT 0.999997 0.999997 0 + 9 60 318 0 0 18.870198 268 60 9507 371 ENST00000454784.4 0.032491 1 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40912224 40912224 __UNKNOWN__ Intron SNP A A G rs544823161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40912224A>G ENST00000454784.4 + 50 17408 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 ATACTTGTGTAGCCCACAATT 0.438 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 19855 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-24140A>G chr12.hg19:g.40912224A>G NA Q8NA85 hg19 0.02 16.792266 TGTxGCC COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 2 14.44394 KEEP 0 0 0 48 1528 AA 1 1 0 + 12 60 414 0 0 23.609756 400 60 14660 561 ENST00000454784.4 0.029126 1 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40915320 40915320 __UNKNOWN__ Intron SNP G G A rs548187262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40915320G>A ENST00000454784.4 + 50 17408 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 GGCTAAAAGTGCCCACACAGG 0.468 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 16026 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-21044G>A chr12.hg19:g.40915320G>A NA Q8NA85 hg19 0.02 1.637435 AGTxCCC COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 1 5.71877 KEEP 0 0 0 19 681 GG 0.99986 0.999799 0 + 5 60 163 0 0 10.142362 92 60 3542 130 ENST00000454784.4 0.051546 0.99994 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40919119 40919119 __UNKNOWN__ Intron SNP T T C rs56226314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40919119T>C ENST00000454784.4 + 50 17408 MUC19_ENST00000474954.1_3'UTR Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 GTTGGCCACATTTTTCCAAGG 0.438 NA T||| 771 0.153954 0.3487 0.111 5008 , , NA 20819 0.0188 NA 0.175 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-17245T>C chr12.hg19:g.40919119T>C NA Q8NA85 hg19 0.02 11.752887 ACAxTTT COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 2 4.048411 KEEP 0 1 36 26 849 TT 0.999988 0.999988 0 + 9 60 339 0 0 21.054601 262 60 9465 349 ENST00000454784.4 0.03321 1 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40922091 40922091 __UNKNOWN__ Intron SNP A A G rs4768288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40922091A>G ENST00000454784.4 + 50 17408 MUC19_ENST00000474954.1_3'UTR Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 TGGAATAACTAGGGCTGGCCC 0.453 NA G||| 758 0.151358 0.3396 0.1095 5008 , , NA 18157 0.0188 NA 0.175 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-14273A>G chr12.hg19:g.40922091A>G NA Q8NA85 hg19 0.02 12.609941 ACTxGGG COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 1 5.550366 KEEP 0 1 33 30 934 AA 0.999997 0.999997 0 + 9 60 327 1 0 19.320347 301 60 11183 405 ENST00000454784.4 0.029032 1 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40935517 40935517 __UNKNOWN__ Intron SNP G G A rs56083241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40935517G>A ENST00000454784.4 + 50 17408 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 AATGTCAAATGTCATGCTATG 0.408 NA G||| 302 0.0603035 0.0477 0.0764 5008 , , NA 20338 0.0188 NA 0.1471 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-847G>A chr12.hg19:g.40935517G>A NA Q8NA85 hg19 0.02 6.03796 AATxTCA COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 1 2.407609 KEEP 0 0 0 8 269 GG 0.99257 0.99257 0 + 10 60 353 0 0 23.457796 164 60 6086 194 ENST00000454784.4 0.057471 1 MUC19 283463 __UNKNOWN__ __UNKNOWN__ 12 40936512 40936512 __UNKNOWN__ Intron SNP C C A rs17599666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:40936512C>A ENST00000454784.4 + 51 17462 Q7Z5P9 MUC19_HUMAN mucin 19, oligomeric NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) lung(2) 2 CAGACCATTCCCTTTCTAAAT 0.438 NA C||| 265 0.0529153 0.0212 0.072 5008 , , NA 20469 0.0198 NA 0.1471 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236870 12q12 2012-04-20 2006-03-14 ENSG00000205592 ENSG00000205592 283463 Mucins 14362 protein-coding gene gene with protein product 612170 NA 12882755 Standard XM_003403524 NM_173600 NA Approved FLJ35746 uc021qxa.1 Q7Z5P9 OTTHUMG00000060732 ENST00000454784.4:c.10891-55C>A chr12.hg19:g.40936512C>A NA Q8NA85 hg19 0.02 14.759546 TTCxCTT COVERED NOVEL MUC19-001 NOVEL non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000384257.6 1 7.694 KEEP 0 2 55 45 1602 CC 1 1 0 + 11 60 399 1 0 23.359353 383 60 13896 530 ENST00000454784.4 0.027919 1 CNTN1 1272 __UNKNOWN__ __UNKNOWN__ 12 41337435 41337435 __UNKNOWN__ Silent SNP C C T rs1056019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:41337435C>T ENST00000551295.2 + 13 1533 c.1416C>T c.(1414-1416)aaC>aaT p.N472N CNTN1_ENST00000348761.2_Silent_p.N461N|CNTN1_ENST00000547849.1_Silent_p.N472N|CNTN1_ENST00000347616.1_Silent_p.N472N|CNTN1_ENST00000360099.3_Silent_p.N472N|CNTN1_ENST00000547702.1_Silent_p.N472N NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 472 Ig-like C2-type 5. NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TGGAAATCAACAACATTACAA 0.313 NA T||| 2862 0.571486 0.5862 0.6628 5008 , , NA 15700 0.4365 NA 0.6571 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 T , 2584,1822 532.2+/-373.4 740,1104,359 101 100 101 1416,1383 -1.7 1 12 dbSNP_86 101 5499,3099 472.1+/-368.3 1742,2015,542 no coding-synonymous,coding-synonymous CNTN1 NM_001843.2,NM_175038.1 , 2482,3119,901 TT,TC,CC 36.0433,41.3527,37.8422 , 472/1019,461/1008 41337435 8083,4921 2203 4299 6502 SO:0001819 synonymous_variant Z21488 CCDS8737.1, CCDS8738.1, CCDS58225.1 12q11-q12 2014-01-30 ENSG00000018236 1272 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands 2171 protein-coding gene gene with protein product glycoprotein gP135 600016 NA 7959734, 8586965 Standard NM_001843 NM_001843 NA Approved F3, GP135 uc031qgz.1 Q12860 ENST00000551295.2:c.1416C>T chr12.hg19:g.41337435C>T NA A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466 hg19 CCDS8737.1 0.02 10.895608 CAAxAAC COVERED NOVEL CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403692.2 2 11.437151 KEEP 0 0 0 38 1344 CC 1 1 0 + 10 60 378 0 0 23.688483 280 60 10545 409 ENST00000551295.2 0.034483 1 CNTN1 1272 __UNKNOWN__ __UNKNOWN__ 12 41366042 41366042 __UNKNOWN__ Intron SNP G G T rs10879442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:41366042G>T ENST00000551295.2 + 16 1921 CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000547849.1_3'UTR|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000547702.1_3'UTR NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTTGTAGATCGTTTGGGTGGA 0.358 NA T||| 2912 0.58147 0.5991 0.67 5008 , , NA 15205 0.4256 NA 0.6769 False NA ,,, NA NA NA 2504 0.5573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z21488 CCDS8737.1, CCDS8738.1, CCDS58225.1 12q11-q12 2014-01-30 ENSG00000018236 1272 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands 2171 protein-coding gene gene with protein product glycoprotein gP135 600016 NA 7959734, 8586965 Standard NM_001843 NM_001843 NA Approved F3, GP135 uc031qgz.1 Q12860 ENST00000551295.2:c.1805-8669G>T chr12.hg19:g.41366042G>T NA A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466 hg19 CCDS8737.1 0.02 12.878184 ATCxTTT COVERED NOVEL CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403692.2 3 8.596431 KEEP 0 2 61 50 1712 GG 1 1 0 + 10 60 365 0 0 21.902911 314 60 11002 461 ENST00000551295.2 0.030864 1 CNTN1 1272 __UNKNOWN__ __UNKNOWN__ 12 41366155 41366155 __UNKNOWN__ Intron SNP A A G rs10879443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:41366155A>G ENST00000551295.2 + 16 1921 CNTN1_ENST00000348761.2_Intron|CNTN1_ENST00000547849.1_3'UTR|CNTN1_ENST00000347616.1_Intron|CNTN1_ENST00000547702.1_3'UTR NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GTTTGAAAATACCTTCACTTT 0.323 NA G||| 3066 0.61222 0.6967 0.6974 5008 , , NA 14598 0.4286 NA 0.6779 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z21488 CCDS8737.1, CCDS8738.1, CCDS58225.1 12q11-q12 2014-01-30 ENSG00000018236 1272 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands 2171 protein-coding gene gene with protein product glycoprotein gP135 600016 NA 7959734, 8586965 Standard NM_001843 NM_001843 NA Approved F3, GP135 uc031qgz.1 Q12860 ENST00000551295.2:c.1805-8556A>G chr12.hg19:g.41366155A>G NA A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466 hg19 CCDS8737.1 0.02 12.735815 AATxCCT COVERED NOVEL CNTN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403692.2 1 3.310292 KEEP 0 3 106 48 1421 AA 1 1 0 + 9 60 330 0 0 19.659591 298 60 10000 418 ENST00000551295.2 0.029316 1 PDZRN4 29951 __UNKNOWN__ __UNKNOWN__ 12 41587983 41587983 __UNKNOWN__ Missense_Mutation SNP T T A rs75656873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:41587983T>A ENST00000402685.2 + 3 844 c.836T>A c.(835-837)aTc>aAc p.I279N NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 279 PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CATGACAAAATCATGGAGGTA 0.358 NA T||| 137 0.0273562 0.0 0.0231 5008 , , NA 17872 0.1022 NA 0.008 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 T ASN/ILE 2,3134 0,2,1566 63 61 62 836 4.6 1 12 dbSNP_131 62 20,7144 1,18,3563 yes missense PDZRN4 NM_001164595.1 149 1,20,5129 AA,AT,TT 0.2792,0.0638,0.2136 279/1037 41587983 22,10278 1568 3582 5150 SO:0001583 missense AK094690 CCDS8739.1, CCDS53777.1 12q12 2008-08-14 2008-08-14 ENSG00000165966 29951 RING-type (C3HC4) zinc fingers 30552 protein-coding gene gene with protein product similar to semaF cytoplasmic domain associated protein 3 609730 NA 11230166, 15010864 Standard NM_013377 NM_013377 NA Approved DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589 uc010skn.2 Q6ZMN7 ENST00000402685.2:c.836T>A chr12.hg19:g.41587983T>A ENSP00000384197:p.Ile279Asn NA Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7 hg19 CCDS53777.1 0.02 4.29996 AAAxCAT COVERED 84 0.038461538461538464 0 0.0 6 0.016574585635359115 70 0.12237762237762238 8 0.010554089709762533 T 20.7 4.036634 0.75617 6.38E-4 0.002792 ENSG00000165966 ENST00000402685 T 0.57107 0.42 4.63 4.63 0.57726 PDZ/DHR/GLGF (4); . . . . T 0.04770 0.0129 H 0.96748 3.875 0.09310 P 1.0 D 0.56521 0.976 D 0.64321 0.924 T 0.64964 -0.6283 8 0.87932 D 0 -2.9067 13.3232 0.60444 0.0:0.0:0.0:1.0 . 279 Q6ZMN7 PZRN4_HUMAN N 279 ENSP00000384197:I279N ENSP00000384197:I279N I + 2 0 PDZRN4 39874250 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 6.729000 0.74775 2.034000 0.60081 0.482000 0.46254 ATC NOVEL PDZRN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403701.1 1 7.222955 KEEP 0 0 0 24 803 TT 0.999909 0.999909 0 + 6 60 228 0 0 15.025837 128 60 4656 197 ENST00000402685.2 0.044776 1 PDZRN4 29951 __UNKNOWN__ __UNKNOWN__ 12 41900463 41900463 __UNKNOWN__ Missense_Mutation SNP G G A rs35577124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:41900463G>A ENST00000402685.2 + 4 1057 c.1049G>A c.(1048-1050)cGt>cAt p.R350H PDZRN4_ENST00000539469.2_Missense_Mutation_p.R92H|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R90H NM_001164595.1 NP_001158067.1 Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 350 NA ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GCCAAGCTTCGTCCACCTACC 0.493 NA G||| 586 0.117013 0.2269 0.1383 5008 , , NA 20154 0.1736 NA 0.001 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 G HIS/ARG,HIS/ARG 846,3560 333.6+/-303.0 87,672,1444 163 136 145 1049,275 2.2 0.2 12 dbSNP_126 145 12,8588 7.1+/-27.0 0,12,4288 yes missense,missense PDZRN4 NM_001164595.1,NM_013377.3 29,29 87,684,5732 AA,AG,GG 0.1395,19.2011,6.597 possibly-damaging,possibly-damaging 350/1037,92/779 41900463 858,12148 2203 4300 6503 SO:0001583 missense AK094690 CCDS8739.1, CCDS53777.1 12q12 2008-08-14 2008-08-14 ENSG00000165966 29951 RING-type (C3HC4) zinc fingers 30552 protein-coding gene gene with protein product similar to semaF cytoplasmic domain associated protein 3 609730 NA 11230166, 15010864 Standard NM_013377 NM_013377 NA Approved DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589 uc010skn.2 Q6ZMN7 ENST00000402685.2:c.1049G>A chr12.hg19:g.41900463G>A ENSP00000384197:p.Arg350His NA Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7 hg19 CCDS53777.1 0.02 11.0806 TTCxTCC COVERED 240 0.10989010989010989 111 0.22560975609756098 46 0.1270718232044199 83 0.1451048951048951 0 0.0 G 13.23 2.176068 0.38413 0.192011 0.001395 ENSG00000165966 ENST00000402685;ENST00000539469;ENST00000298919 T;T;T 0.73363 -0.74;3.74;3.74 5.08 2.18 0.27775 . 1.544220 0.05000 N 0.468870 T 0.00178 0.0005 M 0.73598 2.24 0.22954 P 0.99851589 D;P;P 0.89917 1.0;0.945;0.872 D;B;B 0.79784 0.993;0.301;0.396 T 0.06661 -1.0814 9 0.66056 D 0.02 -25.004 10.4928 0.44760 0.2219:0.0:0.7781:0.0 rs35577124 350;90;92 Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2 PZRN4_HUMAN;.;. H 350;92;90 ENSP00000384197:R350H;ENSP00000439990:R92H;ENSP00000298919:R90H ENSP00000298919:R90H R + 2 0 PDZRN4 40186730 0.997000 0.39634 0.156000 0.22583 0.421000 0.31385 4.856000 0.62932 0.360000 0.24265 -0.986000 0.02555 CGT NOVEL PDZRN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403701.1 1 13.543122 KEEP 0 0 0 45 1541 GG 1 1 0 + 11 60 389 0 0 24.362302 258 60 8980 400 ENST00000402685.2 0.040892 1 RP11-630C16.2 0 __UNKNOWN__ __UNKNOWN__ 12 42305290 42305290 __UNKNOWN__ lincRNA SNP G G C rs73123883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42305290G>C ENST00000550874.1 - 0 471 NA NA NA GTACAGTGAAGATGCTGACTG 0.522 NA G||| 558 0.111422 0.1089 0.121 5008 , , NA 19888 0.1121 NA 0.0994 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000550874.1: chr12.hg19:g.42305290G>C NA hg19 0.02 -0.377249 GAAxATG COVERED NOVEL RP11-630C16.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000403776.1 0 2.407451 KEEP 0 0 0 8 260 GG 0.99257 0.902315 0 - 3 60 126 0 0 9.306389 40 60 1481 60 ENST00000550874.1 0.069767 0.909069 GXYLT1 283464 __UNKNOWN__ __UNKNOWN__ 12 42476987 42476987 __UNKNOWN__ 3'UTR SNP T T A rs2406565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42476987T>A ENST00000398675.3 - 0 6156 NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) UDP-xylosyltransferase activity (GO:0035252) kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 attaattttttaaaaaaaaat 0.239 NA T||| 1115 0.222644 0.1543 0.17 5008 , , NA 12515 0.2956 NA 0.2147 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC015597 CCDS41771.1, CCDS41772.1 12q12 2013-10-11 2009-11-17 2009-11-17 ENSG00000151233 ENSG00000151233 283464 Glycosyltransferase family 8 domain containing 27482 protein-coding gene gene with protein product 613321 glycosyltransferase 8 domain containing 3 GLT8D3 NA 19940119 Standard XM_290597 NM_001099650 NA Approved FLJ43151 uc001rms.4 Q4G148 OTTHUMG00000169379 ENST00000398675.3:c.*4601A>T chr12.hg19:g.42476987T>A NA B3KWJ2|Q8IXV1|Q96BH4 hg19 CCDS41772.1 0.02 3.540211 TTTxAAA COVERED NOVEL GXYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403778.1 2 6.61813 KEEP 0 0 0 22 646 TT 0.999879 0.999879 0 - 6 60 206 0 0 12.69383 135 60 4767 180 ENST00000398675.3 0.042553 1 PPHLN1 51535 __UNKNOWN__ __UNKNOWN__ 12 42682351 42682351 __UNKNOWN__ Intron SNP C C T rs12371762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42682351C>T ENST00000549190.1 + 2 215 Q8NEY8 PPHLN_HUMAN periphilin 1 NA NA keratinization (GO:0031424) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) CGCCTCACAGCGCAGCAAGTG 0.522 NA C||| 1775 0.354433 0.1831 0.2911 5008 , , NA 19079 0.4563 NA 0.4085 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY157850 CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1 12q12 2006-10-24 ENSG00000134283 51535 19369 protein-coding gene gene with protein product 608150 NA Standard NM_201515 NM_016488 NA Approved uc001rng.1 Q8NEY8 ENST00000549190.1:c.35-47334C>T chr12.hg19:g.42682351C>T NA E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9 hg19 0.02 12.6357 CAGxGCA COVERED NOVEL PPHLN1-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000404039.1 1 13.311464 KEEP 0 2 56 64 2251 CC 1 1 0 + 9 60 329 0 0 19.275458 321 60 11716 458 ENST00000549190.1 0.027273 1 PPHLN1 51535 __UNKNOWN__ __UNKNOWN__ 12 42682413 42682413 __UNKNOWN__ Intron SNP C C T rs112457323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42682413C>T ENST00000549190.1 + 2 215 Q8NEY8 PPHLN_HUMAN periphilin 1 NA NA keratinization (GO:0031424) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) CCTTCCAACACCTGACAGAAT 0.537 NA C||| 889 0.177516 0.0204 0.1513 5008 , , NA 19380 0.254 NA 0.2356 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY157850 CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1 12q12 2006-10-24 ENSG00000134283 51535 19369 protein-coding gene gene with protein product 608150 NA Standard NM_201515 NM_016488 NA Approved uc001rng.1 Q8NEY8 ENST00000549190.1:c.35-47272C>T chr12.hg19:g.42682413C>T NA E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9 hg19 0.02 21.289118 ACAxCTG COVERED NOVEL PPHLN1-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000404039.1 5 30.700241 KEEP 0 0 0 102 3637 CC 1 1 0 + 16 60 580 0 0 34.750783 495 60 18532 809 ENST00000549190.1 0.031311 1 PPHLN1 51535 __UNKNOWN__ __UNKNOWN__ 12 42787579 42787579 __UNKNOWN__ Intron SNP A A G rs1376931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42787579A>G ENST00000256678.8 + 5 589 PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000358314.7_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000549190.1_Intron|PPHLN1_ENST00000395580.3_Intron|PPHLN1_ENST00000395568.2_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Intron Q8NEY8 PPHLN_HUMAN periphilin 1 NA NA keratinization (GO:0031424) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) GTTTATTCCTATACTTCAAAA 0.313 NA G||| 1292 0.257987 0.1006 0.3862 5008 , , NA 17695 0.2569 NA 0.3648 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY157850 CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1 12q12 2006-10-24 ENSG00000134283 51535 19369 protein-coding gene gene with protein product 608150 NA Standard NM_201515 NM_016488 NA Approved uc001rng.1 Q8NEY8 ENST00000256678.8:c.408+88A>G chr12.hg19:g.42787579A>G NA E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9 hg19 0.02 2.029795 CCTxTAC COVERED NOVEL PPHLN1-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404048.1 2 2.406544 KEEP 0 0 0 8 232 AA 0.99257 0.991047 0 + 4 60 153 0 0 10.427981 71 60 2602 83 ENST00000256678.8 0.053333 0.998465 PRICKLE1 144165 __UNKNOWN__ __UNKNOWN__ 12 42852217 42852217 __UNKNOWN__ 3'UTR SNP C C T rs1051453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42852217C>T ENST00000455697.1 - 0 4175 PRICKLE1_ENST00000445766.2_3'UTR|PPHLN1_ENST00000317560.9_Intron NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) NA NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GCCACTAGAACCTTTAGTTAG 0.358 NA C||| 1724 0.344249 0.1694 0.2896 5008 , , NA 19162 0.4355 NA 0.4036 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK056499 CCDS8742.1 12p11-q12 2010-08-13 2006-09-12 ENSG00000139174 144165 17019 protein-coding gene gene with protein product 608500 prickle-like 1 (Drosophila) NA 12525887, 18976727 Standard NM_153026 NA Approved FLJ31937, EPM1B uc010skv.2 Q96MT3 ENST00000455697.1:c.*1394G>A chr12.hg19:g.42852217C>T NA Q14C83|Q71QF8|Q96N00 hg19 CCDS8742.1 0.02 1.863293 GAAxCTT COVERED NOVEL PRICKLE1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404069.1 2 6.01916 KEEP 0 0 0 20 695 CC 0.999863 0.99977 0 - 5 60 167 0 0 10.699656 89 60 3263 129 ENST00000455697.1 0.053191 0.999907 PRICKLE1 144165 __UNKNOWN__ __UNKNOWN__ 12 42854205 42854205 __UNKNOWN__ Silent SNP A A G rs3747562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42854205A>G ENST00000455697.1 - 8 2187 c.1902T>C c.(1900-1902)tcT>tcC p.S634S PRICKLE1_ENST00000548696.1_Silent_p.S634S|PRICKLE1_ENST00000345127.3_Silent_p.S634S|PRICKLE1_ENST00000445766.2_Silent_p.S634S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.S634S NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 634 NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TGACATCATCAGAAAACTTGA 0.483 NA G||| 2150 0.429313 0.472 0.4841 5008 , , NA 18126 0.4137 NA 0.4284 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 G ,,, 2021,2385 487,1047,669 98 93 95 1902,1902,1902,1902 -11.1 0 12 dbSNP_107 95 3640,4960 824,1992,1484 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PRICKLE1 NM_001144881.1,NM_001144882.1,NM_001144883.1,NM_153026.2 ,,, 1311,3039,2153 GG,GA,AA 42.3256,45.8693,43.5261 ,,, 634/832,634/832,634/832,634/832 42854205 5661,7345 2203 4300 6503 SO:0001819 synonymous_variant AK056499 CCDS8742.1 12p11-q12 2010-08-13 2006-09-12 ENSG00000139174 144165 17019 protein-coding gene gene with protein product 608500 prickle-like 1 (Drosophila) NA 12525887, 18976727 Standard NM_153026 NA Approved FLJ31937, EPM1B uc010skv.2 Q96MT3 ENST00000455697.1:c.1902T>C chr12.hg19:g.42854205A>G NA Q14C83|Q71QF8|Q96N00 hg19 CCDS8742.1 0.02 9.101685 ATCxGAA COVERED NOVEL PRICKLE1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404069.1 1 12.939134 KEEP 0 0 0 43 1355 AA 1 1 0 - 10 60 332 0 0 19.105282 280 60 10257 379 ENST00000455697.1 0.034483 1 PRICKLE1 144165 __UNKNOWN__ __UNKNOWN__ 12 42854208 42854208 __UNKNOWN__ Silent SNP A A G rs3747563|rs111643910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:42854208A>G ENST00000455697.1 - 8 2184 c.1899T>C c.(1897-1899)ttT>ttC p.F633F PRICKLE1_ENST00000548696.1_Silent_p.F633F|PRICKLE1_ENST00000345127.3_Silent_p.F633F|PRICKLE1_ENST00000445766.2_Silent_p.F633F|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Silent_p.F633F NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 633 NA negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606) cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CATCATCAGAAAACTTGACCT 0.488 NA A||| 1355 0.270567 0.1634 0.3847 5008 , , NA 18152 0.256 NA 0.3678 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 A ,,, 887,3519 115,657,1431 99 94 96 1899,1899,1899,1899 -4.5 0.5 12 dbSNP_107 96 3013,5587 588,1837,1875 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous PRICKLE1 NM_001144881.1,NM_001144882.1,NM_001144883.1,NM_153026.2 ,,, 703,2494,3306 GG,GA,AA 35.0349,20.1316,29.9862 ,,, 633/832,633/832,633/832,633/832 42854208 3900,9106 2203 4300 6503 SO:0001819 synonymous_variant AK056499 CCDS8742.1 12p11-q12 2010-08-13 2006-09-12 ENSG00000139174 144165 17019 protein-coding gene gene with protein product 608500 prickle-like 1 (Drosophila) NA 12525887, 18976727 Standard NM_153026 NA Approved FLJ31937, EPM1B uc010skv.2 Q96MT3 ENST00000455697.1:c.1899T>C chr12.hg19:g.42854208A>G NA Q14C83|Q71QF8|Q96N00 hg19 CCDS8742.1 0.02 11.594071 AGAxAAC COVERED NOVEL PRICKLE1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404069.1 1 13.841794 KEEP 0 0 0 46 1458 AA 1 1 0 - 10 60 390 0 0 24.886001 280 60 10103 389 ENST00000455697.1 0.034483 1 ADAMTS20 80070 __UNKNOWN__ __UNKNOWN__ 12 43847683 43847683 __UNKNOWN__ Intron SNP A A G rs11182085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:43847683A>G ENST00000389420.3 - 12 1760 ADAMTS20_ENST00000553158.1_Intron NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 NA NA extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GATAATCTTAATTTATAGTGA 0.398 NA A||| 842 0.168131 0.0348 0.1686 5008 , , NA 15123 0.4851 NA 0.0815 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 A 211,4195 7,197,1999 42 37 38 3.5 1 12 dbSNP_120 38 626,7960 18,590,3685 no intron ADAMTS20 NM_025003.3 25,787,5684 GG,GA,AA 7.2909,4.7889,6.4424 43847683 837,12155 2203 4293 6496 SO:0001627 intron_variant AF488804 CCDS31778.2 12q12 2005-08-19 2005-08-19 ENSG00000173157 80070 ADAM metallopeptidases with thrombospondin type 1 motif 17178 protein-coding gene gene with protein product 611681 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20 NA 12514189, 12562771 Standard NM_025003 NM_025003 NA Approved GON-1 uc010skx.2 P59510 ENST00000389420.3:c.1760+26T>C chr12.hg19:g.43847683A>G NA A6NNC9|J3QT00 hg19 CCDS31778.2 0.02 4.264107 TTAxTTT COVERED NOVEL ADAMTS20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403643.1 1 2.407461 KEEP 0 0 0 8 257 AA 0.99257 0.992552 0 - 5 60 186 0 0 12.280951 99 60 3442 122 ENST00000389420.3 0.048077 0.999981 NELL2 4753 __UNKNOWN__ __UNKNOWN__ 12 45307633 45307633 __UNKNOWN__ 5'UTR SNP T T C rs374144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:45307633T>C ENST00000333837.4 - 0 78 NM_001145110.1 NP_001138582.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) NA NA extracellular region (GO:0005576) calcium ion binding (GO:0005509) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ATAATAATAATGTCTAAAAGG 0.284 NA C||| 1710 0.341454 0.329 0.4524 5008 , , NA 16724 0.4425 NA 0.2545 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 11 10 10 NA NA 12 NA 45307633 691 1556 2247 SO:0001623 5_prime_UTR_variant D83018 CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1 12q12 2012-01-30 2001-11-28 ENSG00000184613 ENSG00000184613 4753 7751 protein-coding gene gene with protein product 602320 nel (chicken)-like 2 NA 19249368 Standard NM_006159 NM_006159 NA Approved NRP2 uc010skz.1 Q99435 OTTHUMG00000169464 ENST00000333837.4:c.-14A>G chr12.hg19:g.45307633T>C NA B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2 hg19 CCDS53781.1 0.02 8.481103 TAAxGTC COVERED NOVEL NELL2-006 PUTATIVE downstream_ATG|basic|CCDS protein_coding NA protein_coding OTTHUMT00000404185.1 1 7.217544 KEEP 0 0 0 24 687 TT 0.999909 0.999909 0 - 16 60 579 0 0 40.140673 220 60 8068 272 ENST00000333837.4 0.067797 1 ANO6 196527 __UNKNOWN__ __UNKNOWN__ 12 45795512 45795512 __UNKNOWN__ Intron SNP C C A rs11183014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:45795512C>A ENST00000423947.3 + 14 1686 ANO6_ENST00000426898.2_Intron|ANO6_ENST00000435642.1_Intron|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000320560.8_Intron|ANO6_ENST00000441606.2_Intron NM_001204803.1 NP_001191732.1 Q4KMQ2 ANO6_HUMAN anoctamin 6 NA NA activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085) cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 AGTGTGAGTTCAGTTTTTAAT 0.363 NA C||| 564 0.11262 0.0113 0.0533 5008 , , NA 19863 0.3254 NA 0.0567 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL832340 CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1 12q12-q13.11 2014-09-17 2008-08-28 2008-08-28 196527 Ion channels / Chloride channels : Calcium activated : Anoctamins 25240 protein-coding gene gene with protein product 608663 transmembrane protein 16F TMEM16F NA 15067359, 24692353 Standard XM_113743 NM_001025356 NA Approved DKFZp313M0720 uc010slf.2 Q4KMQ2 OTTHUMG00000169564 ENST00000423947.3:c.1450-66C>A chr12.hg19:g.45795512C>A NA A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2 hg19 CCDS55819.1 0.02 10.389056 GTTxAGT COVERED NOVEL ANO6-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000404820.1 0 13.54208 KEEP 0 0 0 45 1519 CC 1 1 0 + 11 60 357 0 0 21.090987 280 60 10289 370 ENST00000423947.3 0.037801 1 ANO6 196527 __UNKNOWN__ __UNKNOWN__ 12 45825730 45825730 __UNKNOWN__ 3'UTR SNP C C G rs11553695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:45825730C>G ENST00000320560.8 + 0 5571 ANO6_ENST00000435642.1_Intron|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000441606.2_3'UTR NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 NA NA activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085) cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GATAATTTAGCTATATATCAT 0.299 NA C||| 552 0.110224 0.0121 0.0548 5008 , , NA 18188 0.3105 NA 0.0567 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832340 CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1 12q12-q13.11 2014-09-17 2008-08-28 2008-08-28 196527 Ion channels / Chloride channels : Calcium activated : Anoctamins 25240 protein-coding gene gene with protein product 608663 transmembrane protein 16F TMEM16F NA 15067359, 24692353 Standard XM_113743 NM_001025356 NA Approved DKFZp313M0720 uc010slf.2 Q4KMQ2 OTTHUMG00000169564 ENST00000320560.8:c.*2636C>G chr12.hg19:g.45825730C>G NA A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2 hg19 CCDS31782.1 0.02 5.868121 TAGxTAT COVERED NOVEL ANO6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000404822.1 1 7.825558 KEEP 0 0 0 26 941 CC 0.999957 0.999957 0 + 7 60 253 0 0 15.760036 175 60 6615 240 ENST00000320560.8 0.038462 1 SLC38A4 55089 __UNKNOWN__ __UNKNOWN__ 12 47159196 47159196 __UNKNOWN__ 3'UTR SNP A A T rs2430921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:47159196A>T ENST00000447411.1 - 0 3138 NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) ACTGAACTAAATCCTATTTTA 0.294 NA A||| 2987 0.596446 0.4062 0.6455 5008 , , NA 17522 0.4891 NA 0.7972 False NA ,,, NA NA NA 2504 0.7229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF193836 CCDS8750.1 12q13 2013-05-22 ENSG00000139209 55089 Solute carriers 14679 protein-coding gene gene with protein product 608065 NA 11414754 Standard NM_018018 NA Approved PAAT, NAT3, ATA3 uc001rpj.2 Q969I6 ENST00000447411.1:c.*1288T>A chr12.hg19:g.47159196A>T NA A8K553 hg19 CCDS8750.1 0.02 24.829201 TAAxTCC COVERED NOVEL SLC38A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404574.1 4 21.634256 KEEP 0 2 66 95 2989 AA 1 1 0 - 35 60 1273 0 0 86.773478 539 60 20035 824 ENST00000447411.1 0.060976 1 SLC38A4 55089 __UNKNOWN__ __UNKNOWN__ 12 47170887 47170887 __UNKNOWN__ Intron SNP C C A rs180419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:47170887C>A ENST00000447411.1 - 12 1280 SLC38A4_ENST00000266579.4_Intron NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CTATATTGCTCATCATGAAGA 0.249 NA C||| 2889 0.576877 0.3517 0.6383 5008 , , NA 16934 0.498 NA 0.7863 False NA ,,, NA NA NA 2504 0.7035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF193836 CCDS8750.1 12q13 2013-05-22 ENSG00000139209 55089 Solute carriers 14679 protein-coding gene gene with protein product 608065 NA 11414754 Standard NM_018018 NA Approved PAAT, NAT3, ATA3 uc001rpj.2 Q969I6 ENST00000447411.1:c.1074-100G>T chr12.hg19:g.47170887C>A NA A8K553 hg19 CCDS8750.1 0.02 2.129625 GCTxATC COVERED NOVEL SLC38A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404574.1 0 6.018691 KEEP 0 0 0 20 664 CC 0.999863 0.998328 0 - 6 60 210 0 0 14.78574 69 60 2563 95 ENST00000447411.1 0.08 0.998465 AMIGO2 347902 __UNKNOWN__ __UNKNOWN__ 12 47469879 47469879 __UNKNOWN__ 3'UTR SNP G G C rs77389366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:47469879G>C ENST00000266581.4 - 0 3373 NM_181847.4 NP_862830.1 adhesion molecule with Ig-like domain 2 NA NA endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TATTCCTTCAGTATGTGGTAG 0.418 NA G||| 94 0.01877 0.0008 0.0245 5008 , , NA 21880 0.0714 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8751.1 12q13.11 2013-01-11 ENSG00000139211 347902 Immunoglobulin superfamily / Immunoglobulin-like domain containing 24073 protein-coding gene gene with protein product amphoterin-induced gene and open reading frame 2 615690 NA 12629050, 12843293, 15107827 Standard NM_181847 NM_181847 NA Approved ALI1, DEGA uc001rpk.3 Q86SJ2 ENST00000266581.4:c.*1338C>G chr12.hg19:g.47469879G>C NA hg19 CCDS8751.1 0.02 4.094887 TCAxTAT COVERED NOVEL AMIGO2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405075.1 2 8.72771 KEEP 0 0 0 29 1016 GG 0.999997 0.999997 0 - 8 60 292 0 0 19.559174 138 60 5165 204 ENST00000266581.4 0.054795 1 AMIGO2 347902 __UNKNOWN__ __UNKNOWN__ 12 47472956 47472956 __UNKNOWN__ 5'UTR SNP G G A rs77928122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:47472956G>A ENST00000429635.1 - 0 565 AMIGO2_ENST00000550413.1_5'UTR|AMIGO2_ENST00000321382.3_Intron|AMIGO2_ENST00000266581.4_Intron NM_001143668.1 NP_001137140.1 adhesion molecule with Ig-like domain 2 NA NA endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TTTGAAATGGGTTTTATTTCA 0.353 NA G||| 276 0.0551118 0.1165 0.0288 5008 , , NA 21463 0.0724 NA 0.003 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS8751.1 12q13.11 2013-01-11 ENSG00000139211 347902 Immunoglobulin superfamily / Immunoglobulin-like domain containing 24073 protein-coding gene gene with protein product amphoterin-induced gene and open reading frame 2 615690 NA 12629050, 12843293, 15107827 Standard NM_181847 NM_181847 NA Approved ALI1, DEGA uc001rpk.3 Q86SJ2 ENST00000429635.1:c.-90C>T chr12.hg19:g.47472956G>A NA hg19 CCDS8751.1 0.02 2.396153 TGGxTTT COVERED NOVEL AMIGO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405078.1 0 8.124237 KEEP 0 0 0 27 946 GG 0.999988 0.979514 0 - 4 60 153 0 0 10.951431 52 60 1929 95 ENST00000429635.1 0.071429 0.979526 ENDOU 8909 __UNKNOWN__ __UNKNOWN__ 12 48106488 48106488 __UNKNOWN__ Intron SNP G G T rs1234820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48106488G>T ENST00000422538.3 - 8 988 ENDOU_ENST00000545824.2_Intron|ENDOU_ENST00000542202.1_Intron|ENDOU_ENST00000229003.3_Intron|RP1-197B17.3_ENST00000547799.1_lincRNA NM_001172439.1 NP_001165910.1 P21128 ENDOU_HUMAN endonuclease, polyU-specific NA NA female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236) autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 CCATGCCAAGGCTTCCCCCTT 0.542 NA G||| 794 0.158546 0.0378 0.0865 5008 , , NA 15163 0.3562 NA 0.1551 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M32402 CCDS8754.1, CCDS53784.1, CCDS53785.1 12q13.1 2011-08-31 ENSG00000111405 ENSG00000111405 8909 Serine peptidases / Serine peptidases 14369 protein-coding gene gene with protein product 606720 NA 2350438, 1710108, 15755742, 18936097 Standard NM_006025.2 NM_006025 NA Approved PP11, P11, PRSS26 uc001rpu.2 P21128 OTTHUMG00000169670 ENST00000422538.3:c.866-83C>A chr12.hg19:g.48106488G>T NA B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4 hg19 CCDS53785.1 0.02 -0.386015 AAGxCTT COVERED NOVEL ENDOU-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000405352.1 0 3.009674 KEEP 0 0 0 10 346 GG 0.992708 0.911475 0 - 3 60 107 0 0 7.376463 41 60 1513 59 ENST00000422538.3 0.068182 0.918171 RAPGEF3 10411 __UNKNOWN__ __UNKNOWN__ 12 48138366 48138366 __UNKNOWN__ Intron SNP C C T rs11615078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48138366C>T ENST00000449771.2 - 17 1685 RAPGEF3_ENST00000171000.4_Intron|RAPGEF3_ENST00000395358.3_3'UTR|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000549151.1_Intron|RAPGEF3_ENST00000389212.3_Intron|RAPGEF3_ENST00000405493.2_Intron O95398 RPGF3_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 NA NA angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) tcctttccccctctgtgctcc 0.552 NA C||| 771 0.153954 0.0098 0.0922 5008 , , NA 18338 0.372 NA 0.1551 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092448 CCDS31784.1, CCDS41775.1 12q13.1 2006-04-12 2004-03-26 ENSG00000079337 ENSG00000079337 10411 16629 protein-coding gene gene with protein product exchange protein directly activated by cAMP 1 606057 RAP guanine-nucleotide-exchange factor (GEF) 3 NA 10777494, 9856955 Standard NM_006105 NM_001098531 NA Approved cAMP-GEFI, EPAC, bcm910 uc001rpz.4 O95398 OTTHUMG00000133667 ENST00000449771.2:c.1597-515G>A chr12.hg19:g.48138366C>T NA A8K2G5|E7EQC8|O95634|Q8WVN0 hg19 CCDS41775.1 0.02 6.517107 CCCxTCT COVERED NOVEL RAPGEF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257848.1 1 10.789614 KEEP 0 2 63 58 2044 CC 1 1 0 - 14 60 517 0 0 36.385842 185 60 6930 326 ENST00000449771.2 0.070352 1 RAPGEF3 10411 __UNKNOWN__ __UNKNOWN__ 12 48139933 48139933 __UNKNOWN__ Intron SNP A A G rs4768162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48139933A>G ENST00000449771.2 - 16 1685 RAPGEF3_ENST00000171000.4_Intron|RAPGEF3_ENST00000395358.3_3'UTR|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000549151.1_Intron|RAPGEF3_ENST00000389212.3_Intron|RAPGEF3_ENST00000405493.2_Intron O95398 RPGF3_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 NA NA angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) agagccagagaaagacccttc 0.607 NA A||| 1471 0.29373 0.2065 0.4251 5008 , , NA 17897 0.2897 NA 0.1759 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092448 CCDS31784.1, CCDS41775.1 12q13.1 2006-04-12 2004-03-26 ENSG00000079337 ENSG00000079337 10411 16629 protein-coding gene gene with protein product exchange protein directly activated by cAMP 1 606057 RAP guanine-nucleotide-exchange factor (GEF) 3 NA 10777494, 9856955 Standard NM_006105 NM_001098531 NA Approved cAMP-GEFI, EPAC, bcm910 uc001rpz.4 O95398 OTTHUMG00000133667 ENST00000449771.2:c.1596+709T>C chr12.hg19:g.48139933A>G NA A8K2G5|E7EQC8|O95634|Q8WVN0 hg19 CCDS41775.1 0.02 4.776398 GAGxAAG COVERED NOVEL RAPGEF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257848.1 0 12.602157 KEEP 0 0 0 42 1290 AA 1 1 0 - 8 60 286 0 0 18.93637 140 60 5007 228 ENST00000449771.2 0.054054 1 RAPGEF3 10411 __UNKNOWN__ __UNKNOWN__ 12 48141798 48141798 __UNKNOWN__ Intron SNP T T C rs56199059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48141798T>C ENST00000449771.2 - 13 1411 RAPGEF3_ENST00000171000.4_Intron|RAPGEF3_ENST00000395358.3_Intron|RAPGEF3_ENST00000548919.1_Intron|RAPGEF3_ENST00000549151.1_Intron|RAPGEF3_ENST00000389212.3_Intron|RAPGEF3_ENST00000405493.2_Intron O95398 RPGF3_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 NA NA angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) AGATTTTCTCTCAACCCCACG 0.617 NA T||| 805 0.160743 0.025 0.0908 5008 , , NA 21998 0.3631 NA 0.1561 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 T ,, 64,1320 1,62,629 65 65 65 ,, -2 0 12 dbSNP_129 65 526,2656 51,424,1116 no intron,intron,intron RAPGEF3 NM_001098531.2,NM_001098532.2,NM_006105.5 ,, 52,486,1745 CC,CT,TT 16.5305,4.6243,12.9216 ,, ,, 48141798 590,3976 692 1591 2283 SO:0001627 intron_variant AK092448 CCDS31784.1, CCDS41775.1 12q13.1 2006-04-12 2004-03-26 ENSG00000079337 ENSG00000079337 10411 16629 protein-coding gene gene with protein product exchange protein directly activated by cAMP 1 606057 RAP guanine-nucleotide-exchange factor (GEF) 3 NA 10777494, 9856955 Standard NM_006105 NM_001098531 NA Approved cAMP-GEFI, EPAC, bcm910 uc001rpz.4 O95398 OTTHUMG00000133667 ENST00000449771.2:c.1322+58A>G chr12.hg19:g.48141798T>C NA A8K2G5|E7EQC8|O95634|Q8WVN0 hg19 CCDS41775.1 0.02 2.132955 CTCxCAA COVERED NOVEL RAPGEF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257848.1 1 5.41598 KEEP 0 0 0 18 551 TT 0.999859 0.999537 0 - 4 60 150 0 0 9.88485 82 60 3072 123 ENST00000449771.2 0.046512 0.999678 RAPGEF3 10411 __UNKNOWN__ __UNKNOWN__ 12 48143719 48143719 __UNKNOWN__ Missense_Mutation SNP T T A rs543303042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48143719T>A ENST00000449771.2 - 8 899 c.811A>T c.(811-813)Acc>Tcc p.T271S RAPGEF3_ENST00000171000.4_Missense_Mutation_p.T229S|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.T271S|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.T229S|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.T229S|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.T271S|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.T229S O95398 RPGF3_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 271 NA angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TTACACACGGTCCCTGCCTTG 0.567 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 16371 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 251 247 248 NA NA 12 NA 48143719 2203 4300 6503 SO:0001583 missense AK092448 CCDS31784.1, CCDS41775.1 12q13.1 2006-04-12 2004-03-26 ENSG00000079337 ENSG00000079337 10411 16629 protein-coding gene gene with protein product exchange protein directly activated by cAMP 1 606057 RAP guanine-nucleotide-exchange factor (GEF) 3 NA 10777494, 9856955 Standard NM_006105 NM_001098531 NA Approved cAMP-GEFI, EPAC, bcm910 uc001rpz.4 O95398 OTTHUMG00000133667 ENST00000449771.2:c.811A>T chr12.hg19:g.48143719T>A ENSP00000395708:p.Thr271Ser NA A8K2G5|E7EQC8|O95634|Q8WVN0 hg19 CCDS41775.1 0.02 22.273776 CGGxCCC COVERED . . . . . . . . . . T 18.08 3.544530 0.65198 . . ENSG00000079337 ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358 D;D;D;D;D;D;D 0.92752 -3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1 3.86 3.86 0.44501 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3); 0.056990 0.64402 D 0.000002 D 0.88529 0.6461 L 0.34521 1.04 0.80722 D 1 B;P;P 0.49862 0.213;0.895;0.929 B;B;P 0.47206 0.147;0.201;0.541 D 0.87671 0.2541 10 0.41790 T 0.15 . 11.291 0.49250 0.0:0.0:0.0:1.0 . 283;271;271 B7Z5J6;O95398-2;O95398 .;.;RPGF3_HUMAN S 229;271;229;229;229;271;283;229;271 ENSP00000384521:T229S;ENSP00000395708:T271S;ENSP00000448619:T229S;ENSP00000171000:T229S;ENSP00000373864:T271S;ENSP00000448480:T229S;ENSP00000378764:T271S ENSP00000171000:T229S T - 1 0 RAPGEF3 46429986 1.000000 0.71417 0.757000 0.31301 0.861000 0.49209 5.541000 0.67212 1.980000 0.57719 0.523000 0.50628 ACC NOVEL RAPGEF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257848.1 4 40.919134 KEEP 0 0 0 136 4231 TT 1 1 0 - 16 60 548 0 0 31.424841 553 60 19218 858 ENST00000449771.2 0.02812 1 RAPGEF3 10411 __UNKNOWN__ __UNKNOWN__ 12 48143720 48143720 __UNKNOWN__ Silent SNP C C A rs563247888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48143720C>A ENST00000449771.2 - 8 898 c.810G>T c.(808-810)ggG>ggT p.G270G RAPGEF3_ENST00000171000.4_Silent_p.G228G|RAPGEF3_ENST00000395358.3_Silent_p.G270G|RAPGEF3_ENST00000548919.1_Silent_p.G228G|RAPGEF3_ENST00000549151.1_Silent_p.G228G|RAPGEF3_ENST00000389212.3_Silent_p.G270G|RAPGEF3_ENST00000405493.2_Silent_p.G228G O95398 RPGF3_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 270 NA angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034) endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) TACACACGGTCCCTGCCTTGC 0.572 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 16354 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 248 245 246 NA NA 12 NA 48143720 2203 4300 6503 SO:0001819 synonymous_variant AK092448 CCDS31784.1, CCDS41775.1 12q13.1 2006-04-12 2004-03-26 ENSG00000079337 ENSG00000079337 10411 16629 protein-coding gene gene with protein product exchange protein directly activated by cAMP 1 606057 RAP guanine-nucleotide-exchange factor (GEF) 3 NA 10777494, 9856955 Standard NM_006105 NM_001098531 NA Approved cAMP-GEFI, EPAC, bcm910 uc001rpz.4 O95398 OTTHUMG00000133667 ENST00000449771.2:c.810G>T chr12.hg19:g.48143720C>A NA A8K2G5|E7EQC8|O95634|Q8WVN0 hg19 CCDS41775.1 0.02 20.967465 GGTxCCT COVERED NOVEL RAPGEF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257848.1 4 40.6309 KEEP 0 0 0 135 4763 CC 1 1 0 - 16 60 544 0 0 30.397492 554 60 20323 852 ENST00000449771.2 0.02807 1 SLC48A1 55652 __UNKNOWN__ __UNKNOWN__ 12 48175791 48175791 __UNKNOWN__ 3'UTR SNP T T C rs4760653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48175791T>C ENST00000442218.2 + 0 2265 SLC48A1_ENST00000442892.2_Intron NM_017842.2 NP_060312.2 Q6P1K1 HRG1_HUMAN solute carrier family 48 (heme transporter), member 1 NA NA heme transport (GO:0015886) endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) heme transporter activity (GO:0015232) large_intestine(1)|lung(3)|urinary_tract(1) 5 CCAGGCCAGATGGGAAAGGGA 0.602 NA T||| 929 0.185503 0.1067 0.0706 5008 , , NA 19301 0.4137 NA 0.1352 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8755.2 12q13.11 2013-05-22 ENSG00000211584 ENSG00000211584 55652 Solute carriers 26035 protein-coding gene gene with protein product 612187 NA 18418376 Standard NM_017842 NM_017842 NA Approved FLJ20489, hHRG-1, HRG1 uc001rqd.3 Q6P1K1 OTTHUMG00000156983 ENST00000442218.2:c.*1727T>C chr12.hg19:g.48175791T>C NA Q9BUB3|Q9NX17 hg19 CCDS8755.2 0.02 13.526053 AGAxGGG COVERED NOVEL SLC48A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346966.1 1 24.37049 KEEP 0 0 0 81 2480 TT 1 1 0 + 11 60 374 0 0 20.97576 375 60 13481 556 ENST00000442218.2 0.028497 1 HDAC7 51564 __UNKNOWN__ __UNKNOWN__ 12 48177170 48177170 __UNKNOWN__ 3'UTR SNP C C G rs757342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48177170C>G ENST00000080059.7 - 0 3429 HDAC7_ENST00000354334.3_3'UTR NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 NA NA cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570) cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CCCACTCCCCCCTAGCCCCTA 0.592 NA C||| 820 0.163738 0.0386 0.062 5008 , , NA 16057 0.4127 NA 0.1352 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF239243 CCDS8756.2, CCDS41776.1 12q13.1 2008-02-25 2008-02-25 2008-02-25 ENSG00000061273 ENSG00000061273 51564 14067 protein-coding gene gene with protein product 606542 histone deacetylase 7A HDAC7A NA 10922406, 10640276 Standard NM_015401 NA Approved DKFZP586J0917 uc010slo.2 Q8WUI4 OTTHUMG00000152968 ENST00000080059.7:c.*454G>C chr12.hg19:g.48177170C>G NA B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7 hg19 CCDS8756.2 0.02 9.179155 CCCxCTA COVERED NOVEL HDAC7-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000328792.1 0 18.959762 KEEP 0 0 0 63 2156 CC 1 1 0 - 9 60 326 0 0 20.926921 193 60 6989 319 ENST00000080059.7 0.044554 1 COL2A1 1280 __UNKNOWN__ __UNKNOWN__ 12 48380682 48380682 __UNKNOWN__ Intron SNP G G A rs10875714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48380682G>A ENST00000380518.3 - 22 1530 COL2A1_ENST00000337299.6_Intron|COL2A1_ENST00000493991.1_Intron NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 NA NA axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTGAAAAGAGAGGCAGGTCC 0.587 NA G||| 1020 0.203674 0.1611 0.1902 5008 , , NA 18729 0.2629 NA 0.2366 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 G , 757,3649 308.3+/-290.5 56,645,1502 119 121 120 , -8.4 0 12 dbSNP_120 120 1944,6656 342.8+/-324.6 218,1508,2574 no intron,intron COL2A1 NM_001844.4,NM_033150.2 , 274,2153,4076 AA,AG,GG 22.6047,17.1811,20.7673 , , 48380682 2701,10305 2203 4300 6503 SO:0001627 intron_variant X16468 CCDS8759.1, CCDS41778.1 12q12-q13.2 2013-11-14 2008-02-04 ENSG00000139219 ENSG00000139219 1280 Collagens 2200 protein-coding gene gene with protein product 120140 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), arthroophthalmopathy, progressive (Stickler syndrome) SEDC, AOM NA 1677770 Standard NM_001844 NM_033150 NA Approved STL1 uc001rqu.3 P02458 OTTHUMG00000149896 ENST00000380518.3:c.1366-11C>T chr12.hg19:g.48380682G>A NA A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43 hg19 CCDS41778.1 0.02 18.486098 AGAxAGG COVERED NOVEL COL2A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313810.2 2 17.457373 KEEP 0 0 0 58 2116 GG 1 1 0 - 12 60 432 0 0 24.835529 445 60 16847 628 ENST00000380518.3 0.026258 1 COL2A1 1280 __UNKNOWN__ __UNKNOWN__ 12 48390585 48390585 __UNKNOWN__ Intron SNP T T A rs2213163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48390585T>A ENST00000380518.3 - 8 696 COL2A1_ENST00000337299.6_Intron NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 NA NA axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TGGGAATGGATTATTAGATGA 0.333 NA T||| 1097 0.21905 0.1467 0.2277 5008 , , NA 20718 0.3026 NA 0.2356 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X16468 CCDS8759.1, CCDS41778.1 12q12-q13.2 2013-11-14 2008-02-04 ENSG00000139219 ENSG00000139219 1280 Collagens 2200 protein-coding gene gene with protein product 120140 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), arthroophthalmopathy, progressive (Stickler syndrome) SEDC, AOM NA 1677770 Standard NM_001844 NM_033150 NA Approved STL1 uc001rqu.3 P02458 OTTHUMG00000149896 ENST00000380518.3:c.532-177A>T chr12.hg19:g.48390585T>A NA A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43 hg19 CCDS41778.1 0.02 2.296326 GGAxTAT COVERED NOVEL COL2A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313810.2 0 2.708217 KEEP 0 0 0 9 287 TT 0.99254 0.972219 0 - 6 60 213 0 0 15.884186 50 60 1749 65 ENST00000380518.3 0.107143 0.979526 COL2A1 1280 __UNKNOWN__ __UNKNOWN__ 12 48391416 48391416 __UNKNOWN__ Silent SNP G G T rs3737548 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48391416G>T ENST00000380518.3 - 7 668 c.504C>A c.(502-504)ggC>ggA p.G168G COL2A1_ENST00000337299.6_Silent_p.G99G NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 168 NA axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) gaccaggggggccgggaggac 0.562 NA G||| 1098 0.219249 0.146 0.2277 5008 , , NA 17261 0.3036 NA 0.2356 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 G , 693,3713 269.8+/-269.2 52,589,1562 31 35 34 504,297 -0.7 1 12 dbSNP_107 34 1927,6673 319.5+/-314.2 209,1509,2582 no coding-synonymous,coding-synonymous COL2A1 NM_001844.4,NM_033150.2 , 261,2098,4144 TT,TG,GG 22.407,15.7286,20.1445 , 168/1488,99/1419 48391416 2620,10386 2203 4300 6503 SO:0001819 synonymous_variant X16468 CCDS8759.1, CCDS41778.1 12q12-q13.2 2013-11-14 2008-02-04 ENSG00000139219 ENSG00000139219 1280 Collagens 2200 protein-coding gene gene with protein product 120140 collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), arthroophthalmopathy, progressive (Stickler syndrome) SEDC, AOM NA 1677770 Standard NM_001844 NM_033150 NA Approved STL1 uc001rqu.3 P02458 OTTHUMG00000149896 ENST00000380518.3:c.504C>A chr12.hg19:g.48391416G>T NA A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43 hg19 CCDS41778.1 0.02 8.432746 GGGxCCG COVERED NOVEL COL2A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313810.2 3 16.554395 KEEP 0 0 0 55 1986 GG 1 1 0 - 13 60 476 0 0 31.821736 229 60 8120 367 ENST00000380518.3 0.053719 1 SENP1 29843 __UNKNOWN__ __UNKNOWN__ 12 48438290 48438290 __UNKNOWN__ 3'UTR SNP T T A rs60629297 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48438290T>A ENST00000004980.5 - 0 3228 SENP1_ENST00000448372.1_3'UTR|SENP1_ENST00000551330.1_3'UTR|SENP1_ENST00000339976.6_3'UTR Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) AAGGTCCTTTTTCTTCTTGGT 0.438 NA T||| 1721 0.34365 0.2337 0.4496 5008 , , NA 13499 0.5972 NA 0.1541 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF149770 CCDS44868.1, CCDS44868.2 12q13.1 2008-02-05 2005-08-17 ENSG00000079387 29843 17927 protein-coding gene gene with protein product 612157 SUMO1/sentrin specific protease 1 NA 10652325, 14563852 Standard NM_014554 NM_001267595 NA Approved uc009zkx.4 Q9P0U3 OTTHUMG00000169896 ENST00000004980.5:c.*815A>T chr12.hg19:g.48438290T>A NA A8K7P5|Q86XC8 hg19 CCDS44868.2 0.02 6.377839 TTTxTCT COVERED NOVEL SENP1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406471.1 1 17.146995 KEEP 0 0 0 57 1707 TT 1 1 0 - 8 60 293 0 0 19.372058 150 60 5459 271 ENST00000004980.5 0.050633 1 SENP1 29843 __UNKNOWN__ __UNKNOWN__ 12 48441692 48441692 __UNKNOWN__ Intron SNP C C G rs1018973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48441692C>G ENST00000004980.5 - 15 2170 SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549518.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000339976.6_Intron Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) ATCAATCACTCCATTGAAGGT 0.323 NA C||| 1737 0.346845 0.2337 0.4568 5008 , , NA 18264 0.6012 NA 0.161 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF149770 CCDS44868.1, CCDS44868.2 12q13.1 2008-02-05 2005-08-17 ENSG00000079387 29843 17927 protein-coding gene gene with protein product 612157 SUMO1/sentrin specific protease 1 NA 10652325, 14563852 Standard NM_014554 NM_001267595 NA Approved uc009zkx.4 Q9P0U3 OTTHUMG00000169896 ENST00000004980.5:c.1691+91G>C chr12.hg19:g.48441692C>G NA A8K7P5|Q86XC8 hg19 CCDS44868.2 0.02 13.381892 ACTxCAT COVERED NOVEL SENP1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406471.1 2 20.465596 KEEP 0 0 0 68 2362 CC 1 1 0 - 14 60 530 0 0 34.231177 332 60 12422 487 ENST00000004980.5 0.040462 1 SENP1 29843 __UNKNOWN__ __UNKNOWN__ 12 48459488 48459488 __UNKNOWN__ Intron SNP C C G rs17122612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48459488C>G ENST00000004980.5 - 11 1513 SENP1_ENST00000448372.1_Intron|SENP1_ENST00000549518.1_Intron|SENP1_ENST00000549595.1_Intron|SENP1_ENST00000551330.1_Intron|SENP1_ENST00000339976.6_Intron Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GGAACGTGACCAAATGTAGAC 0.368 NA C||| 1736 0.346645 0.2352 0.4568 5008 , , NA 17388 0.5972 NA 0.162 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 C 817,2857 98,621,1118 47 42 43 3.4 0 12 dbSNP_123 43 1305,6777 110,1085,2846 no intron SENP1 NM_014554.2 208,1706,3964 GG,GC,CC 16.147,22.2373,18.0504 48459488 2122,9634 1837 4041 5878 SO:0001627 intron_variant AF149770 CCDS44868.1, CCDS44868.2 12q13.1 2008-02-05 2005-08-17 ENSG00000079387 29843 17927 protein-coding gene gene with protein product 612157 SUMO1/sentrin specific protease 1 NA 10652325, 14563852 Standard NM_014554 NM_001267595 NA Approved uc009zkx.4 Q9P0U3 OTTHUMG00000169896 ENST00000004980.5:c.1035-25G>C chr12.hg19:g.48459488C>G NA A8K7P5|Q86XC8 hg19 CCDS44868.2 0.02 5.88888 GACxAAA COVERED NOVEL SENP1-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406471.1 0 13.5786 KEEP 0 1 34 57 2007 CC 1 1 0 - 8 60 281 0 0 17.501744 183 60 6923 316 ENST00000004980.5 0.041885 1 SENP1 29843 __UNKNOWN__ __UNKNOWN__ 12 48499931 48499931 __UNKNOWN__ 5'UTR SNP A A T rs4760619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48499931A>T ENST00000549518.1 - 0 160 PFKM_ENST00000340802.6_Intron NM_001267594.1 NP_001254523.1 Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929) large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) GTGGCTGAAGAGGAGGGGGCT 0.647 NA A||| 519 0.103634 0.0197 0.1225 5008 , , NA 14207 0.1806 NA 0.162 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF149770 CCDS44868.1, CCDS44868.2 12q13.1 2008-02-05 2005-08-17 ENSG00000079387 29843 17927 protein-coding gene gene with protein product 612157 SUMO1/sentrin specific protease 1 NA 10652325, 14563852 Standard NM_014554 NM_001267595 NA Approved uc009zkx.4 Q9P0U3 OTTHUMG00000169896 ENST00000549518.1:c.-165T>A chr12.hg19:g.48499931A>T NA A8K7P5|Q86XC8 hg19 CCDS44868.2 0.02 6.50278 AAGxGGA COVERED NOVEL SENP1-004 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406471.1 1 43.324203 KEEP 0 0 0 144 4479 AA 1 1 0 - 8 60 289 0 0 18.552101 170 60 6126 419 ENST00000549518.1 0.044944 1 PFKM 5213 __UNKNOWN__ __UNKNOWN__ 12 48501161 48501161 __UNKNOWN__ Missense_Mutation SNP A A T rs11609399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48501161A>T ENST00000340802.6 + 2 229 c.5A>T c.(4-6)cAt>cTt p.H2L NM_001166686.1 NP_001160158.1 P08237 PFKAM_HUMAN phosphofructokinase, muscle 0 N-terminal catalytic PFK domain 1. NA carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) 6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228) 6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GCAGCCATGCATAAAGACGAG 0.438 NA A||| 1784 0.35623 0.233 0.4568 5008 , , NA 20778 0.6468 NA 0.162 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 A LEU/HIS 714,2422 79,556,933 187 164 171 5 -2.3 0.9 12 dbSNP_120 171 1217,5947 109,999,2474 yes missense PFKM NM_001166686.1 99 188,1555,3407 TT,TA,AA 16.9877,22.7679,18.7476 2/852 48501161 1931,8369 1568 3582 5150 SO:0001583 missense M26066 CCDS8760.1, CCDS53786.1 12q13.11 2014-06-13 5213 2.7.1.11 8877 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 122 610681 phosphofructokinase, polypeptide X PFKX NA Standard NM_000289 NM_001166686 NA Approved PFK-1, PPP1R122 uc001rrb.2 P08237 ENST00000340802.6:c.5A>T chr12.hg19:g.48501161A>T ENSP00000345771:p.His2Leu NA J3KNX3|Q16814|Q16815|Q6ZTT1 hg19 CCDS53786.1 0.02 14.327005 TGCxTAA COVERED 761 0.3484432234432234 131 0.266260162601626 163 0.45027624309392267 346 0.6048951048951049 121 0.15963060686015831 A 9.231 1.035795 0.19590 0.227679 0.169877 ENSG00000152556 ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288 T;D;D;D 0.87334 -1.33;-2.21;-2.24;-2.23 3.92 -2.34 0.06704 . 0.443402 0.16556 N 0.209269 T 0.00012 0.0000 N 0.08118 0 0.09310 P 0.9999999633143 . . . . . . T 0.45745 -0.9240 7 0.56958 D 0.05 0.0572 8.6613 0.34095 0.4783:0.0:0.5217:0.0 rs11609399;rs11609399 . . . L 2 ENSP00000345771:H2L;ENSP00000449622:H2L;ENSP00000448940:H2L;ENSP00000448018:H2L ENSP00000345771:H2L H + 2 0 PFKM 46787428 0.239000 0.23836 0.878000 0.34440 0.518000 0.34316 -1.232000 0.02936 -0.434000 0.07275 0.482000 0.46254 CAT NOVEL PFKM-001 PUTATIVE downstream_ATG|basic|CCDS protein_coding NA protein_coding OTTHUMT00000406484.1 1 45.3728 KEEP 0 1 32 162 5173 AA 1 1 0 + 10 60 389 0 0 24.366455 309 60 11415 615 ENST00000340802.6 0.031348 1 PFKM 5213 __UNKNOWN__ __UNKNOWN__ 12 48526889 48526889 __UNKNOWN__ Intron SNP C C T rs117340369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48526889C>T ENST00000312352.7 + 5 466 PFKM_ENST00000359794.5_Intron|PFKM_ENST00000340802.6_Intron|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000547587.1_Intron|PFKM_ENST00000395233.2_Intron NM_001166687.1 NP_001160159.1 P08237 PFKAM_HUMAN phosphofructokinase, muscle NA NA carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) 6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228) 6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022) NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 GGTACGTGCACGCGTGTACAC 0.488 NA C||| 7 0.00139776 0.0 0.0 5008 , , NA 22087 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 52 53 52 NA NA 12 NA 48526889 2203 4300 6503 SO:0001627 intron_variant M26066 CCDS8760.1, CCDS53786.1 12q13.11 2014-06-13 5213 2.7.1.11 8877 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 122 610681 phosphofructokinase, polypeptide X PFKX NA Standard NM_000289 NM_001166686 NA Approved PFK-1, PPP1R122 uc001rrb.2 P08237 ENST00000312352.7:c.427+49C>T chr12.hg19:g.48526889C>T NA J3KNX3|Q16814|Q16815|Q6ZTT1 hg19 CCDS8760.1 0.02 6.571635 GCAxGCG COVERED NOVEL PFKM-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406490.1 0 10.530763 KEEP 0 0 0 35 1148 CC 0.999999 0.999999 0 + 7 60 255 0 0 15.803982 185 60 6066 256 ENST00000312352.7 0.036458 1 ASB8 140461 __UNKNOWN__ __UNKNOWN__ 12 48542993 48542993 __UNKNOWN__ 3'UTR SNP G G A rs78730237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48542993G>A ENST00000317697.3 - 0 1192 ASB8_ENST00000536549.1_3'UTR NM_024095.3 NP_077000.1 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box containing 8 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1) 11 GTTTGGGAAGGGGAGGTGCTA 0.378 NA G||| 854 0.170527 0.0038 0.3228 5008 , , NA 19462 0.4028 NA 0.0765 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK024908 CCDS8761.1 12q13.12 2013-01-10 2011-01-25 ENSG00000177981 140461 Ankyrin repeat domain containing 17183 protein-coding gene gene with protein product 615053 ankyrin repeat and SOCS box-containing 8 NA 12076535 Standard NM_024095 NA Approved MGC5540, FLJ21255 uc001rrh.3 Q9H765 ENST00000317697.3:c.*156C>T chr12.hg19:g.48542993G>A NA A8K1P2|Q547Q2 hg19 CCDS8761.1 0.02 2.207322 AAGxGGA COVERED NOVEL ASB8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396497.1 1 6.019394 KEEP 0 0 0 20 714 GG 0.999863 0.999667 0 - 5 60 170 0 0 11.072994 83 60 3032 139 ENST00000317697.3 0.056818 0.999804 OR10AD1 121275 __UNKNOWN__ __UNKNOWN__ 12 48596241 48596241 __UNKNOWN__ Missense_Mutation SNP A A G rs11168459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48596241A>G ENST00000310248.2 - 1 929 c.835T>C c.(835-837)Tac>Cac p.Y279H NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 279 NA Y -> H (in dbSNP:rs11168459). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.Y279H(1) endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 ATGATGGTGTACAGGAGGGAG 0.493 NA A||| 983 0.196286 0.2579 0.1916 5008 , , NA 22103 0.1935 NA 0.2117 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A HIS/TYR 1143,3263 405.8+/-333.6 133,877,1193 123 122 122 835 3.8 1 12 dbSNP_120 122 1857,6743 331.6+/-319.7 197,1463,2640 yes missense OR10AD1 NM_001004134.1 83 330,2340,3833 GG,GA,AA 21.593,25.9419,23.0663 probably-damaging 279/318 48596241 3000,10006 2203 4300 6503 SO:0001583 missense CCDS31787.1 12q13.11 2013-09-24 2002-11-13 2002-11-15 ENSG00000172640 ENSG00000172640 121275 GPCR / Class A : Olfactory receptors 14819 protein-coding gene gene with protein product olfactory receptor, family 10, subfamily AD, member 1 pseudogene OR10AD1P NA Standard NM_001004134 NA Approved uc001rrl.1 Q8NGE0 OTTHUMG00000168027 ENST00000310248.2:c.835T>C chr12.hg19:g.48596241A>G ENSP00000308689:p.Tyr279His NA B9EGT9|Q6IFA8 hg19 CCDS31787.1 0.02 11.797379 TGTxCAG COVERED 473 0.21657509157509158 125 0.2540650406504065 76 0.20994475138121546 121 0.21153846153846154 151 0.19920844327176782 A 17.45 3.393798 0.62066 0.259419 0.21593 ENSG00000172640 ENST00000310248 T 0.00321 8.11 4.96 3.81 0.43845 GPCR, rhodopsin-like superfamily (1); 0.000000 0.35466 N 0.003189 T 0.00012 0.0000 M 0.90198 3.095 0.31492 P 0.665852 D 0.61697 0.99 P 0.62184 0.899 T 0.43686 -0.9376 9 0.87932 D 0 -26.9109 9.0035 0.36097 0.9115:0.0:0.0885:0.0 rs11168459;rs52836532;rs58095204;rs11168459 279 Q8NGE0 O10AD_HUMAN H 279 ENSP00000308689:Y279H ENSP00000308689:Y279H Y - 1 0 OR10AD1 46882508 1.000000 0.71417 1.000000 0.80357 0.813000 0.45954 8.441000 0.90313 1.030000 0.39839 0.533000 0.62120 TAC NOVEL OR10AD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397577.1 2 20.459855 KEEP 0 0 0 68 2055 AA 1 1 0 - 9 60 349 0 0 22.110088 258 60 8929 395 ENST00000310248.2 0.033708 1 OR10AD1 121275 __UNKNOWN__ __UNKNOWN__ 12 48597053 48597053 __UNKNOWN__ Missense_Mutation SNP A A G rs17122812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48597053A>G ENST00000310248.2 - 1 117 c.23T>C c.(22-24)gTg>gCg p.V8A NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 8 NA V -> A (in dbSNP:rs17122812). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 AAATTCCGTCACTATGCTGCC 0.517 NA A||| 705 0.140775 0.0628 0.1643 5008 , , NA 22063 0.1935 NA 0.2107 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 A ALA/VAL 348,4058 176.9+/-206.0 10,328,1865 50 47 48 23 3.9 0.3 12 dbSNP_123 48 1853,6747 323.2+/-315.9 196,1461,2643 yes missense OR10AD1 NM_001004134.1 64 206,1789,4508 GG,GA,AA 21.5465,7.8983,16.923 benign 8/318 48597053 2201,10805 2203 4300 6503 SO:0001583 missense CCDS31787.1 12q13.11 2013-09-24 2002-11-13 2002-11-15 ENSG00000172640 ENSG00000172640 121275 GPCR / Class A : Olfactory receptors 14819 protein-coding gene gene with protein product olfactory receptor, family 10, subfamily AD, member 1 pseudogene OR10AD1P NA Standard NM_001004134 NA Approved uc001rrl.1 Q8NGE0 OTTHUMG00000168027 ENST00000310248.2:c.23T>C chr12.hg19:g.48597053A>G ENSP00000308689:p.Val8Ala NA B9EGT9|Q6IFA8 hg19 CCDS31787.1 0.02 13.098146 GTCxCTA COVERED 372 0.17032967032967034 34 0.06910569105691057 66 0.18232044198895028 121 0.21153846153846154 151 0.19920844327176782 A 7.785 0.710317 0.15239 0.078983 0.215465 ENSG00000172640 ENST00000310248 T 0.00892 5.57 5.07 3.93 0.45458 . 0.599767 0.12846 N 0.434418 T 0.00012 0.0000 M 0.68317 2.08 0.43381 P 0.0045199999999999685 B 0.31077 0.307 B 0.31946 0.138 T 0.40478 -0.9561 9 0.56958 D 0.05 -15.4666 7.5959 0.28048 0.9023:0.0:0.0977:0.0 rs17122812;rs17122812 8 Q8NGE0 O10AD_HUMAN A 8 ENSP00000308689:V8A ENSP00000308689:V8A V - 2 0 OR10AD1 46883320 0.038000 0.19896 0.286000 0.24833 0.014000 0.08584 3.127000 0.50484 0.894000 0.36317 0.460000 0.39030 GTG NOVEL OR10AD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397577.1 1 28.276847 KEEP 0 0 0 94 2884 AA 1 1 0 - 12 60 399 0 0 23.650365 296 60 10588 597 ENST00000310248.2 0.038961 1 H1FNT 341567 __UNKNOWN__ __UNKNOWN__ 12 48723595 48723595 __UNKNOWN__ Missense_Mutation SNP G G A rs1471997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48723595G>A ENST00000335017.1 + 1 833 c.521G>A c.(520-522)cGg>cAg p.R174Q NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 174 Arg-rich. NA R -> Q (in a Japanese man; dbSNP:rs1471997). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533358}. chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290) nuclear chromatin (GO:0000790)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677) endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GTGTGGAGACGGAACGCGAGG 0.711 NA G||| 807 0.161142 0.09 0.2176 5008 , , NA 12981 0.2212 NA 0.2137 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 G GLN/ARG 450,3908 19,412,1748 32 29 30 521 -1.3 0 12 dbSNP_88 30 1851,6731 199,1453,2639 yes missense H1FNT NM_181788.1 43 218,1865,4387 AA,AG,GG 21.5684,10.3258,17.7821 benign 174/256 48723595 2301,10639 2179 4291 6470 SO:0001583 missense AY302593 CCDS8762.1 12q13.11 2011-01-27 ENSG00000187166 341567 Histones / Replication-independent 24893 protein-coding gene gene with protein product NA 15710904 Standard NM_181788 NM_181788 NA Approved HANP1, H1T2 uc001rrm.3 Q75WM6 ENST00000335017.1:c.521G>A chr12.hg19:g.48723595G>A ENSP00000334805:p.Arg174Gln NA Q147U8|Q5GKZ5|Q7Z694 hg19 CCDS8762.1 0.02 2.29095 GACxGAA COVERED 403 0.18452380952380953 45 0.09146341463414634 82 0.2265193370165746 121 0.21153846153846154 155 0.20448548812664907 G 12.20 1.866692 0.32977 0.103258 0.215684 ENSG00000187166 ENST00000335017 T 0.18960 2.18 4.18 -1.27 0.09347 . 0.299800 0.18034 N 0.153839 T 0.00012 0.0000 L 0.42245 1.32 0.80722 P 0.0 B 0.18968 0.032 B 0.11329 0.006 T 0.32771 -0.9894 9 0.42905 T 0.14 -0.671 1.7845 0.03038 0.2282:0.2568:0.3824:0.1326 rs1471997;rs52803112;rs57038423;rs1471997 174 Q75WM6 H1FNT_HUMAN Q 174 ENSP00000334805:R174Q ENSP00000334805:R174Q R + 2 0 H1FNT 47009862 0.007000 0.16637 0.001000 0.08648 0.023000 0.10783 0.557000 0.23454 -0.379000 0.07906 -1.367000 0.01198 CGG NOVEL H1FNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406516.1 0 6.017459 KEEP 0 0 0 20 659 GG 0.999863 0.99555 0 + 4 60 155 0 0 10.803069 64 60 2189 103 ENST00000335017.1 0.058824 0.995687 ZNF641 121274 __UNKNOWN__ __UNKNOWN__ 12 48734731 48734731 __UNKNOWN__ 3'UTR SNP C C T rs3185921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48734731C>T ENST00000544117.2 - 0 4050 ZNF641_ENST00000301042.3_3'UTR Q96N77 ZN641_HUMAN zinc finger protein 641 NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TTACAAAGACCAGCCATTTTG 0.463 NA C||| 733 0.146366 0.0416 0.2075 5008 , , NA 20881 0.2192 NA 0.2127 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018090 CCDS8763.1, CCDS53787.1, CCDS53788.1 12q13.11 2013-01-08 ENSG00000167528 121274 Zinc fingers, C2H2-type, - 31834 protein-coding gene gene with protein product 613906 NA Standard NM_152320 NM_152320 NA Approved FLJ31295 uc001rro.2 Q96N77 ENST00000544117.2:c.*2025G>A chr12.hg19:g.48734731C>T NA B3KS43|B4DNU5|Q8TCQ7|Q8WVE1 hg19 CCDS8763.1 0.02 3.958895 GACxAGC COVERED NOVEL ZNF641-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000406518.1 1 7.219114 KEEP 0 0 0 24 807 CC 0.999909 0.999907 0 - 6 60 200 0 0 12.662724 110 70 4152 166 ENST00000544117.2 0.051724 0.999998 ZNF641 121274 __UNKNOWN__ __UNKNOWN__ 12 48744199 48744199 __UNKNOWN__ Intron SNP C C A rs2732439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48744199C>A ENST00000547026.1 - 1 106 ZNF641_ENST00000544117.2_5'UTR|ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000301042.3_Intron NM_001172681.1 NP_001166152.1 Q96N77 ZN641_HUMAN zinc finger protein 641 NA NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 GTCACAGTGCCCCTGGAAAGG 0.577 NA C||| 1595 0.31849 0.0666 0.3934 5008 , , NA 17556 0.2321 NA 0.5417 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC018090 CCDS8763.1, CCDS53787.1, CCDS53788.1 12q13.11 2013-01-08 ENSG00000167528 121274 Zinc fingers, C2H2-type, - 31834 protein-coding gene gene with protein product 613906 NA Standard NM_152320 NM_152320 NA Approved FLJ31295 uc001rro.2 Q96N77 ENST00000547026.1:c.24+369G>T chr12.hg19:g.48744199C>A NA B3KS43|B4DNU5|Q8TCQ7|Q8WVE1 hg19 CCDS53788.1 0.02 6.2562 TGCxCCT COVERED NOVEL ZNF641-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406521.1 1 25.279894 KEEP 0 0 0 84 2926 CC 1 1 0 - 11 60 395 0 0 27.002136 161 60 5773 328 ENST00000547026.1 0.063953 1 ANP32D 23519 __UNKNOWN__ __UNKNOWN__ 12 48866792 48866792 __UNKNOWN__ Silent SNP C C T rs7966826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48866792C>T ENST00000266594.1 + 1 345 c.345C>T c.(343-345)ctC>ctT p.L115L NM_012404.2 NP_036536.2 O95626 AN32D_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member D 115 NA nuclear matrix (GO:0016363) p.L115L(1) central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 TAGAAAACCTCGAGAGCTTAG 0.413 NA c||| 1454 0.290335 0.1604 0.3357 5008 , , NA 20687 0.6548 NA 0.0815 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 683,3723 286.0+/-278.5 51,581,1571 85 85 85 345 -1.5 0 12 dbSNP_116 85 555,8045 151.2+/-206.0 18,519,3763 no coding-synonymous ANP32D NM_012404.2 69,1100,5334 TT,TC,CC 6.4535,15.5016,9.5187 115/132 48866792 1238,11768 2203 4300 6503 SO:0001819 synonymous_variant U71084 CCDS31788.1 12q13.12 2008-08-04 ENSG00000139223 ENSG00000139223 23519 ANP32 acidic nuclear phosphoproteins 16676 protein-coding gene gene with protein product pp32 related 2 606878 NA 10086381, 10400610 Standard NM_012404 NM_012404 NA Approved PP32R2 uc010slt.2 O95626 OTTHUMG00000162681 ENST00000266594.1:c.345C>T chr12.hg19:g.48866792C>T NA Q6NTC4 hg19 CCDS31788.1 0.02 14.648568 CCTxGAG COVERED NOVEL ANP32D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370058.1 0 15.182522 KEEP 0 1 30 61 2072 CC 1 1 0 + 12 60 430 0 0 25.553257 372 60 13413 524 ENST00000266594.1 0.03125 1 C12orf54 121273 __UNKNOWN__ __UNKNOWN__ 12 48876902 48876902 __UNKNOWN__ Intron SNP T T G rs34801828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48876902T>G ENST00000314014.2 + 2 74 NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 NA NA endometrium(1)|large_intestine(4) 5 cacatgcacatgcacactcac 0.428 NA t||| 1109 0.221446 0.3109 0.1787 5008 , , NA 23117 0.1359 NA 0.1412 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031670 CCDS8764.1 12q13.11 2011-01-31 ENSG00000177627 ENSG00000177627 121273 28553 protein-coding gene gene with protein product NA 12477932 Standard NM_152319 NM_152319 NA Approved MGC35033 uc001rrr.3 Q6X4T0 OTTHUMG00000170019 ENST00000314014.2:c.-57-121T>G chr12.hg19:g.48876902T>G NA Q6X4S9|Q8N5S2 hg19 CCDS8764.1 0.02 8.919154 ACAxGCA COVERED NOVEL C12orf54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 0 5.415781 KEEP 0 0 0 18 543 TT 0.999859 0.999859 0 + 7 60 265 0 0 16.068217 236 60 8657 280 ENST00000314014.2 0.028807 1 C12orf54 121273 __UNKNOWN__ __UNKNOWN__ 12 48876966 48876966 __UNKNOWN__ Intron SNP C C T rs11829869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48876966C>T ENST00000314014.2 + 2 74 NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 NA NA endometrium(1)|large_intestine(4) 5 ACTGAATAAGCGCTTTTCTTC 0.458 NA t||| 1444 0.288339 0.1528 0.3357 5008 , , NA 21115 0.6548 NA 0.0815 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC031670 CCDS8764.1 12q13.11 2011-01-31 ENSG00000177627 ENSG00000177627 121273 28553 protein-coding gene gene with protein product NA 12477932 Standard NM_152319 NM_152319 NA Approved MGC35033 uc001rrr.3 Q6X4T0 OTTHUMG00000170019 ENST00000314014.2:c.-57-57C>T chr12.hg19:g.48876966C>T NA Q6X4S9|Q8N5S2 hg19 CCDS8764.1 0.02 21.239665 AAGxGCT COVERED NOVEL C12orf54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 10.768481 KEEP 0 1 23 44 1551 CC 1 1 0 + 15 60 545 0 0 32.18762 503 60 18152 681 ENST00000314014.2 0.028958 1 C12orf54 121273 __UNKNOWN__ __UNKNOWN__ 12 48877193 48877193 __UNKNOWN__ Intron SNP T T C rs11832311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48877193T>C ENST00000548364.1 + 1 122 C12orf54_ENST00000314014.2_Intron|RP11-722P11.4_ENST00000551847.1_RNA Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 NA NA endometrium(1)|large_intestine(4) 5 TGCTATACTCTATGGGAGAAG 0.478 NA C||| 1444 0.288339 0.1528 0.3357 5008 , , NA 20329 0.6548 NA 0.0815 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 667,3739 754.7+/-412.5 48,571,1584 48 39 42 0.5 0 12 dbSNP_120 42 552,8048 771.9+/-407.7 19,514,3767 no intron C12orf54 NM_152319.3 67,1085,5351 CC,CT,TT 6.4186,15.1384,9.3726 48877193 1219,11787 2203 4300 6503 SO:0001627 intron_variant BC031670 CCDS8764.1 12q13.11 2011-01-31 ENSG00000177627 ENSG00000177627 121273 28553 protein-coding gene gene with protein product NA 12477932 Standard NM_152319 NM_152319 NA Approved MGC35033 uc001rrr.3 Q6X4T0 OTTHUMG00000170019 ENST00000548364.1:c.65+49T>C chr12.hg19:g.48877193T>C NA Q6X4S9|Q8N5S2 hg19 CCDS8764.1 0.02 11.842893 CTCxATG COVERED NOVEL C12orf54-001 KNOWN non_canonical_polymorphism|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406875.1 0 7.52238 KEEP 0 0 0 25 775 TT 0.999931 0.999931 0 + 8 60 308 0 0 18.937094 265 60 9412 341 ENST00000548364.1 0.029304 1 OR8S1 341568 __UNKNOWN__ __UNKNOWN__ 12 48919891 48919891 __UNKNOWN__ Silent SNP T T C rs74637616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48919891T>C ENST00000310194.1 + 1 477 c.477T>C c.(475-477)aaT>aaC p.N159N OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 159 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 CACTCATCAATGTCCTCCTAG 0.493 NA T||| 56 0.0111821 0.0 0.0 5008 , , NA 22257 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 181 163 169 NA NA 12 NA 48919891 2203 4300 6503 SO:0001819 synonymous_variant CCDS31789.1 12q13.2 2012-08-09 ENSG00000197376 341568 GPCR / Class A : Olfactory receptors 19628 protein-coding gene gene with protein product NA Standard NM_001005203 NA Approved uc010slu.2 Q8NH09 ENST00000310194.1:c.477T>C chr12.hg19:g.48919891T>C NA hg19 CCDS31789.1 0.02 9.217102 CAAxGTC COVERED NOVEL OR8S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406881.1 1 8.122652 KEEP 0 0 0 27 834 TT 0.999988 0.999988 0 + 8 60 293 0 0 18.384545 201 60 7430 276 ENST00000310194.1 0.038278 1 OR8S1 341568 __UNKNOWN__ __UNKNOWN__ 12 48920006 48920006 __UNKNOWN__ Missense_Mutation SNP G G A rs12425518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48920006G>A ENST00000310194.1 + 1 592 c.592G>A c.(592-594)Gcc>Acc p.A198T OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 198 NA A -> V (in Ref. 1; BAC05832). {ECO:0000305}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AAGCCTCATCGCCTTGCTCTG 0.478 NA g||| 1737 0.346845 0.4304 0.3991 5008 , , NA 22317 0.5407 NA 0.0755 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 C THR/ALA 1660,2746 507.1+/-366.6 292,1076,835 183 149 161 592 -1.3 0 12 dbSNP_120 161 590,8010 156.1+/-210.0 22,546,3732 yes missense OR8S1 NM_001005203.2 58 314,1622,4567 AA,AG,GG 6.8605,37.6759,17.2997 benign 198/360 48920006 2250,10756 2203 4300 6503 SO:0001583 missense CCDS31789.1 12q13.2 2012-08-09 ENSG00000197376 341568 GPCR / Class A : Olfactory receptors 19628 protein-coding gene gene with protein product NA Standard NM_001005203 NA Approved uc010slu.2 Q8NH09 ENST00000310194.1:c.592G>A chr12.hg19:g.48920006G>A ENSP00000310632:p.Ala198Thr NA hg19 CCDS31789.1 0.02 10.4865 ATCxCCT COVERED 690 0.3159340659340659 194 0.3943089430894309 130 0.35911602209944754 306 0.534965034965035 60 0.079155672823219 G 9.699 1.154072 0.21371 0.376759 0.068605 ENSG00000197376 ENST00000310194 T 0.37235 1.21 4.88 -1.34 0.09143 GPCR, rhodopsin-like superfamily (1); 2.019960 0.02772 N 0.119764 T 0.00012 0.0000 N 0.17872 0.535 0.80722 P 0.0 B 0.23937 0.094 B 0.25884 0.064 T 0.47368 -0.9123 9 0.51188 T 0.08 -47.3227 4.8362 0.13466 0.4087:0.2843:0.307:0.0 rs12425518;rs58634382;rs12425518 198 Q8NH09 OR8S1_HUMAN T 198 ENSP00000310632:A198T ENSP00000310632:A198T A + 1 0 OR8S1 47206273 0.000000 0.05858 0.000000 0.03702 0.700000 0.40528 -0.478000 0.06575 -0.135000 0.11495 -0.121000 0.15023 GCC NOVEL OR8S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406881.1 5 10.229722 KEEP 0 0 0 34 1140 GG 0.999998 0.999998 0 + 9 60 330 0 0 20.026535 271 60 9127 373 ENST00000310194.1 0.032143 1 LALBA 3906 __UNKNOWN__ __UNKNOWN__ 12 48962131 48962131 __UNKNOWN__ Intron SNP C C T rs2071380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:48962131C>T ENST00000301046.2 - 3 394 LALBA_ENST00000549817.1_3'UTR NM_002289.2 NP_002280.1 P00709 LALBA_HUMAN lactalbumin, alpha- NA NA apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|lactose biosynthetic process (GO:0005989)|signal transduction (GO:0007165) extracellular space (GO:0005615) calcium ion binding (GO:0005509)|lactose synthase activity (GO:0004461) large_intestine(1)|stomach(2) 3 TACCAAGGAGCGGAGCGAGAG 0.438 NA c||| 477 0.0952476 0.1641 0.0576 5008 , , NA 19165 0.1319 NA 0.004 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8765.1 12q13 2012-10-02 ENSG00000167531 3906 6480 protein-coding gene gene with protein product 149750 NA Standard NM_002289 XM_006719395 NA Approved LYZL7 uc001rrt.3 P00709 OTTHUMG00000170391 ENST00000301046.2:c.368+168G>A chr12.hg19:g.48962131C>T NA Q6FGX0|Q9UDK4 hg19 CCDS8765.1 0.02 6.540276 GAGxGGA COVERED NOVEL LALBA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408836.1 3 7.223493 KEEP 0 0 0 24 843 CC 0.999909 0.999909 0 - 12 60 431 0 0 29.53929 173 60 6096 258 ENST00000301046.2 0.064865 1 CACNB3 784 __UNKNOWN__ __UNKNOWN__ 12 49221658 49221658 __UNKNOWN__ Silent SNP G G A rs550781385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49221658G>A ENST00000301050.2 + 13 1630 c.1431G>A c.(1429-1431)cgG>cgA p.R477R CACNB3_ENST00000540990.1_Silent_p.R464R|CACNB3_ENST00000536187.2_Silent_p.R476R|CACNB3_ENST00000547392.1_Silent_p.R450R|CACNB3_ENST00000547230.1_Silent_p.R436R NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 477 NA axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891) voltage-gated calcium channel activity (GO:0005245) autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) AGCGCAACCGGCCTTGGCCCA 0.662 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 17942 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 55 57 56 NA NA 12 NA 49221658 2203 4300 6503 SO:0001819 synonymous_variant CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1 12q13 2008-05-02 ENSG00000167535 784 Calcium channel subunits 1403 protein-coding gene gene with protein product 601958 CACNLB3 NA 8119293 Standard NM_000725 NA Approved uc010sly.2 P54284 ENST00000301050.2:c.1431G>A chr12.hg19:g.49221658G>A NA A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913 hg19 CCDS8769.1 0.02 11.883311 CCGxCCT COVERED NOVEL CACNB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408886.1 3 25.885028 KEEP 0 0 0 86 3106 GG 1 1 0 + 12 60 424 0 0 25.657824 324 60 12024 519 ENST00000301050.2 0.035714 1 DDX23 9416 __UNKNOWN__ __UNKNOWN__ 12 49237782 49237782 __UNKNOWN__ Silent SNP C C T rs118006209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49237782C>T ENST00000308025.3 - 3 340 c.261G>A c.(259-261)aaG>aaA p.K87K DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 87 Arg-rich. NA ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTCGGTCCTTCTTATTCCGAT 0.493 NA C||| 34 0.00678914 0.0008 0.0 5008 , , NA 19810 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 413 352 373 261 3.6 1 12 dbSNP_132 373 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous DDX23 NM_004818.2 0,2,6501 TT,TC,CC 0.0116,0.0227,0.0154 87/821 49237782 2,13004 2203 4300 6503 SO:0001819 synonymous_variant AF026402 CCDS8770.1 12q13.11 2013-07-16 ENSG00000174243 9416 DEAD-boxes 17347 protein-coding gene gene with protein product 612172 PRP28 homolog, yeast NA 9409622, 9539711 Standard NM_004818 NM_004818 NA Approved prp28, U5-100K, PRPF28, SNRNP100 uc001rsm.3 Q9BUQ8 ENST00000308025.3:c.261G>A chr12.hg19:g.49237782C>T NA B2R600|B4DH15|O43188 hg19 CCDS8770.1 0.02 12.628017 CTTxTTA COVERED NOVEL DDX23-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408897.2 2 36.710442 KEEP 0 0 0 122 4318 CC 1 1 0 - 11 60 402 0 0 24.3414 331 60 12594 598 ENST00000308025.3 0.032164 1 KMT2D 8085 __UNKNOWN__ __UNKNOWN__ 12 49412921 49412921 __UNKNOWN__ 3'UTR SNP G G A rs139469030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49412921G>A ENST00000301067.7 - 0 19255 RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000548065.1_5'UTR NM_003482.3 NP_003473.3 O14686 KMT2D_HUMAN lysine (K)-specific methyltransferase 2D NA NA chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) NA TGGAGGGAGAGAGGGCGCTTT 0.458 NA G||| 58 0.0115815 0.0008 0.0 5008 , , NA 13789 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010403 CCDS44873.1 12q13.12 2013-05-09 2013-05-09 2013-05-09 ENSG00000167548 ENSG00000167548 8085 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 7133 protein-coding gene gene with protein product 602113 trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2 TNRC21, MLL2 NA 9247308 Standard NM_003482 NA Approved ALR, MLL4, CAGL114 O14686 OTTHUMG00000166524 ENST00000301067.7:c.*2642C>T chr12.hg19:g.49412921G>A NA O14687 hg19 CCDS44873.1 0.02 4.203263 AGAxAGG COVERED NOVEL KMT2D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390183.2 3 42.434565 KEEP 0 0 0 141 5009 GG 1 1 0 - 5 60 190 0 0 11.94338 140 60 5308 370 ENST00000301067.7 0.034483 1 KMT2D 8085 __UNKNOWN__ __UNKNOWN__ 12 49420209 49420209 __UNKNOWN__ Silent SNP C C G rs149393179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49420209C>G ENST00000301067.7 - 48 15539 c.15540G>C c.(15538-15540)gtG>gtC p.V5180V NM_003482.3 NP_003473.3 O14686 KMT2D_HUMAN lysine (K)-specific methyltransferase 2D 5180 FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}. NA chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) NA CAAGGCCCCCCACACGGAACA 0.597 NA C||| 12 0.00239617 0.0008 0.0 5008 , , NA 18619 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 40 42 41 NA NA 12 NA 49420209 2120 4230 6350 SO:0001819 synonymous_variant AF010403 CCDS44873.1 12q13.12 2013-05-09 2013-05-09 2013-05-09 ENSG00000167548 ENSG00000167548 8085 Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type 7133 protein-coding gene gene with protein product 602113 trinucleotide repeat containing 21, myeloid/lymphoid or mixed-lineage leukemia 2 TNRC21, MLL2 NA 9247308 Standard NM_003482 NA Approved ALR, MLL4, CAGL114 O14686 OTTHUMG00000166524 ENST00000301067.7:c.15540G>C chr12.hg19:g.49420209C>G NA O14687 hg19 CCDS44873.1 0.02 17.569816 CCCxACA COVERED NOVEL KMT2D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390183.2 0 36.115525 KEEP 0 0 0 120 4141 CC 1 1 0 - 20 60 672 0 0 42.260349 383 60 14019 641 ENST00000301067.7 0.049628 1 DHH 50846 __UNKNOWN__ __UNKNOWN__ 12 49483598 49483598 __UNKNOWN__ 3'UTR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49483598C>A ENST00000266991.2 - 0 1541 NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog NA NA cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286) extracellular region (GO:0005576)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270) breast(1)|large_intestine(3)|lung(4) 8 AGCCAGCAGGCCCTCGTTTCC 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 5 6 6 NA NA 12 NA 49483598 2094 4169 6263 SO:0001624 3_prime_UTR_variant AB010994 CCDS8779.1 12q13.1 2010-06-24 2010-06-24 ENSG00000139549 50846 2865 protein-coding gene gene with protein product 605423 desert hedgehog (Drosophila) homolog NA 10773676, 10640830 Standard NM_021044 NM_021044 NA Approved HHG-3, MGC35145 uc001rtf.3 O43323 OTTHUMG00000170408 ENST00000266991.2:c.*44G>T chr12.hg19:g.49483598C>A NA Q15794 hg19 CCDS8779.1 0.02 1.727444 AGGxCCT COVERED NOVEL DHH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408973.1 3 4.350231 KEEP 0 3 37 29 715 CC 0.999997 0.999997 0 - 15 60 242 0 0 12.209865 111 60 2639 188 ENST00000266991.2 0.119048 1 TUBA1A 7846 __UNKNOWN__ __UNKNOWN__ 12 49582460 49582460 __UNKNOWN__ 5'UTR SNP C C T rs186298085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49582460C>T ENST00000295766.5 - 0 222 TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000546918.1_Intron NM_001270399.1 NP_001257328.1 Q71U36 TBA1A_HUMAN tubulin, alpha 1a NA NA 'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) stomach(1)|upper_aerodigestive_tract(1) 2 Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570) ACCCCTCGGTCGCGGCAGACG 0.697 NA C||| 31 0.0061901 0.0008 0.0 5008 , , NA 11213 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF141347 CCDS8781.1, CCDS58226.1, CCDS58227.1 12q13.12 2007-02-07 7846 Tubulins 20766 protein-coding gene gene with protein product tubulin, alpha, brain-specific 602529 NA 11504633, 3839072 Standard NM_006009 NM_006009 NA Approved TUBA3, B-ALPHA-1, FLJ25113 uc010smg.1 Q71U36 OTTHUMG00000169511 ENST00000295766.5:c.-258G>A chr12.hg19:g.49582460C>T NA A8K0B8|G3V1U9|P04687|P05209 hg19 CCDS58227.1 0.02 12.201242 GGTxGCG COVERED NOVEL TUBA1A-002 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000404547.2 4 151.059233 KEEP 0 0 0 502 16850 CC 1 1 0 - 14 60 435 0 0 25.776614 319 60 10714 1190 ENST00000295766.5 0.042042 1 TUBA1C 84790 __UNKNOWN__ __UNKNOWN__ 12 49667081 49667081 __UNKNOWN__ 3'UTR SNP C C T rs184192056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:49667081C>T ENST00000301072.6 + 0 1696 RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_3'UTR NM_032704.3 NP_116093.1 Q9BQE3 TBA1C_HUMAN tubulin, alpha 1c NA NA 'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1) 13 TGTCTATTGCCGTAAATTGTT 0.363 NA C||| 18 0.00359425 0.0 0.0 5008 , , NA 24337 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC004949 CCDS8782.1 12q13.12 2007-03-16 2007-02-12 2007-02-12 ENSG00000167553 84790 Tubulins 20768 protein-coding gene gene with protein product tubulin, alpha 6 TUBA6 NA 7821789 Standard NM_032704 NM_032704 NA Approved MGC14580, MGC10851, bcm948 uc001rtt.1 Q9BQE3 ENST00000301072.6:c.*71C>T chr12.hg19:g.49667081C>T NA hg19 CCDS8782.1 0.02 12.65302 TGCxGTA COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 C 0.015 -1.549032 0.00926 . . ENSG00000167553 ENST00000321665 . . . 4.59 -1.58 0.08479 . . . . . T 0.20414 0.0491 . . . 0.09310 N 0.999998 . . . . . . T 0.35251 -0.9796 5 0.87932 D 0 . 1.2628 0.02004 0.153:0.4:0.1516:0.2954 . . . . C 316 . ENSP00000322707:R316C R + 1 0 TUBA1C 47953348 0.000000 0.05858 0.001000 0.08648 0.064000 0.16182 -0.676000 0.05221 -0.026000 0.13895 0.561000 0.74099 CGT NOVEL TUBA1C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404424.1 4 19.863239 KEEP 0 0 0 66 2235 CC 1 1 0 + 13 60 473 0 0 30.193546 291 60 9817 444 ENST00000301072.6 0.042763 1 AQP2 359 __UNKNOWN__ __UNKNOWN__ 12 50350619 50350619 __UNKNOWN__ 3'UTR SNP T T G rs77904078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:50350619T>G ENST00000199280.3 + 0 2129 RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) NA NA actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658) glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 TGTCTGCCTCTCCACAGCCCG 0.562 NA T||| 299 0.0597045 0.0537 0.0331 5008 , , NA 18857 0.1538 NA 0.0109 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8792.1 12q12-q13 2014-09-17 ENSG00000167580 359 Ion channels / Aquaporins 634 protein-coding gene gene with protein product 107777 NA 7512890 Standard NM_000486 NM_000486 NA Approved uc001rvn.3 P41181 ENST00000199280.3:c.*1228T>G chr12.hg19:g.50350619T>G NA Q9UD68 hg19 CCDS8792.1 0.02 17.966376 CTCxCCA COVERED NOVEL AQP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405540.1 1 15.34625 KEEP 0 0 0 51 1608 TT 1 1 0 + 15 60 544 0 0 33.380804 411 60 14740 544 ENST00000199280.3 0.035211 1 LIMA1 51474 __UNKNOWN__ __UNKNOWN__ 12 50651153 50651153 __UNKNOWN__ Intron SNP C C T rs77721955 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:50651153C>T ENST00000394943.3 - 2 87 LIMA1_ENST00000341247.4_Intron Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 NA NA actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 gggtcgtgatcaactcagtat 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF198454 CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1 12q13.12 2006-04-12 ENSG00000050405 51474 24636 protein-coding gene gene with protein product epithelial protein lost in neoplasm beta 608364 NA 10806352, 10618726, 12566430 Standard NM_016357 NM_016357 NA Approved EPLIN uc001rwk.4 Q9UHB6 ENST00000394943.3:c.23-8596G>A chr12.hg19:g.50651153C>T NA B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5 hg19 CCDS44877.1 0.02 -0.219333 GATxAAC COVERED NOVEL LIMA1-001 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406234.1 2 5.683403 KEEP 0 0 0 19 635 CC 0.99986 0.55281 0 - 4 60 141 0 0 11.235344 21 60 797 55 ENST00000394943.3 0.16 0.552887 LIMA1 51474 __UNKNOWN__ __UNKNOWN__ 12 50651161 50651161 __UNKNOWN__ Intron SNP T T C rs74416335 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:50651161T>C ENST00000394943.3 - 2 87 LIMA1_ENST00000341247.4_Intron Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 NA NA actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270) NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 atcaactcagtataccactgg 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF198454 CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1 12q13.12 2006-04-12 ENSG00000050405 51474 24636 protein-coding gene gene with protein product epithelial protein lost in neoplasm beta 608364 NA 10806352, 10618726, 12566430 Standard NM_016357 NM_016357 NA Approved EPLIN uc001rwk.4 Q9UHB6 ENST00000394943.3:c.23-8604A>G chr12.hg19:g.50651161T>C NA B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5 hg19 CCDS44877.1 0.02 -0.192936 CAGxATA COVERED NOVEL LIMA1-001 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406234.1 2 5.697222 KEEP 0 0 0 19 578 TT 0.99986 0.457692 0 - 4 60 153 0 0 12.679422 18 60 634 51 ENST00000394943.3 0.181818 0.457757 TMPRSS12 283471 __UNKNOWN__ __UNKNOWN__ 12 51236802 51236802 __UNKNOWN__ Missense_Mutation SNP T T C rs10876100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51236802T>C ENST00000398458.3 + 1 87 c.55T>C c.(55-57)Tac>Cac p.Y19H TMPRSS12_ENST00000551456.1_Missense_Mutation_p.Y19H NM_182559.2 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 19 NA Y -> H (in dbSNP:rs10876100). integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 CTCTCACTTATACTCAGACCA 0.652 NA T||| 1497 0.298922 0.3328 0.2709 5008 , , NA 14242 0.4038 NA 0.2207 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 T HIS/TYR 1296,2708 208,880,914 29 30 30 55 1.1 0 12 dbSNP_120 30 1798,6492 209,1380,2556 yes missense TMPRSS12 NM_182559.2 83 417,2260,3470 CC,CT,TT 21.6888,32.3676,25.1667 benign 19/349 51236802 3094,9200 2002 4145 6147 SO:0001583 missense BC048112 CCDS44881.1 12q13.12 2014-08-12 2010-04-21 ENSG00000186452 ENSG00000186452 283471 Serine peptidases / Transmembrane 28779 protein-coding gene gene with protein product transmembrane protease, serine 12 NA Standard NM_182559 NM_182559 NA Approved MGC57341, CT151 uc001rwx.4 Q86WS5 OTTHUMG00000169483 ENST00000398458.3:c.55T>C chr12.hg19:g.51236802T>C ENSP00000381476:p.Tyr19His NA B9ZVX2 hg19 CCDS44881.1 0.02 15.915457 TTAxACT COVERED 625 0.28617216117216115 163 0.3313008130081301 100 0.27624309392265195 212 0.3706293706293706 150 0.19788918205804748 T 4.132 0.022751 0.08006 0.323676 0.216888 ENSG00000186452 ENST00000551456;ENST00000398458 D;D 0.90133 -2.62;-2.53 3.44 1.08 0.20341 . 1.518320 0.04643 N 0.405589 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.04128 -1.0975 9 0.16896 T 0.51 0.5913 6.9674 0.24631 0.0:0.2249:0.0:0.7751 rs10876100;rs52803962;rs10876100 19;19 F8WBX2;Q86WS5 .;TMPSC_HUMAN H 19 ENSP00000447259:Y19H;ENSP00000381476:Y19H ENSP00000381476:Y19H Y + 1 0 TMPRSS12 49523069 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.077000 0.11394 -0.057000 0.13199 -1.777000 0.00654 TAC NOVEL TMPRSS12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404289.1 0 21.962619 KEEP 0 0 0 73 2195 TT 1 1 0 + 18 60 682 1 0 45.413197 358 60 12738 583 ENST00000398458.3 0.047872 1 TMPRSS12 283471 __UNKNOWN__ __UNKNOWN__ 12 51281432 51281432 __UNKNOWN__ 3'UTR SNP G G A rs3752667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51281432G>A ENST00000398458.3 + 0 1215 TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 NA NA integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 TGGGCTATAAGTATTGTGACA 0.289 NA G||| 1156 0.230831 0.0946 0.2478 5008 , , NA 15778 0.3978 NA 0.2296 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC048112 CCDS44881.1 12q13.12 2014-08-12 2010-04-21 ENSG00000186452 ENSG00000186452 283471 Serine peptidases / Transmembrane 28779 protein-coding gene gene with protein product transmembrane protease, serine 12 NA Standard NM_182559 NM_182559 NA Approved MGC57341, CT151 uc001rwx.4 Q86WS5 OTTHUMG00000169483 ENST00000398458.3:c.*136G>A chr12.hg19:g.51281432G>A NA B9ZVX2 hg19 CCDS44881.1 0.02 6.9244 TAAxTAT COVERED NOVEL TMPRSS12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404289.1 1 5.4176 KEEP 0 0 0 18 646 GG 0.999859 0.999859 0 + 20 60 715 0 0 54.661801 144 60 5389 217 ENST00000398458.3 0.121951 1 SLC11A2 4891 __UNKNOWN__ __UNKNOWN__ 12 51374563 51374563 __UNKNOWN__ 3'UTR SNP G G C rs77801666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51374563G>C ENST00000262051.7 - 0 2740 NM_001174126.1|NM_001174127.1 NP_001167597.1|NP_001167598.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773) cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385) breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 ATGTTAATGGGAATAGTGGGA 0.338 NA G||| 57 0.0113818 0.0 0.0 5008 , , NA 20352 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB015355 CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1 12q13 2013-07-18 2013-07-18 ENSG00000110911 ENSG00000110911 4891 Solute carriers 10908 protein-coding gene gene with protein product 600523 NRAMP2 NA 7613023 Standard NM_000617 NA Approved DCT1, DMT1 uc001rxk.2 P49281 OTTHUMG00000169493 ENST00000262051.7:c.*946C>G chr12.hg19:g.51374563G>C NA B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35 hg19 CCDS53792.1 0.02 11.887133 TGGxAAT COVERED NOVEL SLC11A2-006 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000404383.1 2 12.639718 KEEP 0 0 0 42 1462 GG 1 1 0 - 8 60 315 0 0 19.700415 260 60 9554 381 ENST00000262051.7 0.029851 1 SLC11A2 4891 __UNKNOWN__ __UNKNOWN__ 12 51399337 51399337 __UNKNOWN__ Intron SNP A A G rs186340517 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51399337A>G ENST00000547688.1 - 5 512 SLC11A2_ENST00000547198.1_Intron|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000394904.3_Intron|SLC11A2_ENST00000262051.7_Intron|SLC11A2_ENST00000262052.5_Intron|SLC11A2_ENST00000546743.1_Intron|SLC11A2_ENST00000541174.2_Intron|SLC11A2_ENST00000545993.2_Intron P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773) cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385) breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 AGGATTTACAATGTCAGATAT 0.378 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 21993 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015355 CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1 12q13 2013-07-18 2013-07-18 ENSG00000110911 ENSG00000110911 4891 Solute carriers 10908 protein-coding gene gene with protein product 600523 NRAMP2 NA 7613023 Standard NM_000617 NA Approved DCT1, DMT1 uc001rxk.2 P49281 OTTHUMG00000169493 ENST00000547688.1:c.271-118T>C chr12.hg19:g.51399337A>G NA B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35 hg19 CCDS53793.1 0.02 16.373993 ACAxTGT COVERED NOVEL SLC11A2-001 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000404388.1 3 19.258525 KEEP 0 0 0 64 2058 AA 1 1 0 - 13 60 494 0 0 31.353412 345 60 12449 488 ENST00000547688.1 0.036313 1 DAZAP2 9802 __UNKNOWN__ __UNKNOWN__ 12 51637169 51637169 __UNKNOWN__ 3'UTR SNP C C T rs10876156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51637169C>T ENST00000412716.3 + 0 2050 DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000449723.3_3'UTR|DAZAP2_ENST00000604900.1_Intron Q15038 DAZP2_HUMAN DAZ associated protein 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) WW domain binding (GO:0050699) haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1) 6 AGATCAAAAACTGGTTACCAT 0.408 NA T||| 1261 0.251797 0.2837 0.3314 5008 , , NA 18133 0.3938 NA 0.1402 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D31767 CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1 12q13.13 2012-04-04 ENSG00000183283 ENSG00000183283 9802 2684 protein-coding gene gene with protein product 607431 NA 10857750, 7584044 Standard NM_014764 NM_014764 NA Approved KIAA0058 uc010snd.2 Q15038 OTTHUMG00000169649 ENST00000412716.3:c.*927C>T chr12.hg19:g.51637169C>T NA A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62 hg19 CCDS8809.1 0.02 3.950081 AAAxTGG COVERED NOVEL DAZAP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405259.2 2 9.33079 KEEP 0 0 0 31 1136 CC 0.999997 0.999995 0 + 6 60 199 0 0 12.525161 110 60 4117 175 ENST00000412716.3 0.051724 0.999998 BIN2 51411 __UNKNOWN__ __UNKNOWN__ 12 51675208 51675208 __UNKNOWN__ 3'UTR SNP C C T rs3759175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51675208C>T ENST00000267012.4 - 0 1834 BIN2_ENST00000544402.1_3'UTR|BIN2_ENST00000604560.1_3'UTR|BIN2_ENST00000452142.2_3'UTR NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 NA NA cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102) phospholipid binding (GO:0005543) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CTCTTATATCCCTCTGACCTA 0.522 NA C||| 800 0.159744 0.1475 0.2406 5008 , , NA 14380 0.3244 NA 0.0229 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 154,1230 13,128,551 148 128 134 -1.3 0 12 dbSNP_107 134 33,3149 0,33,1558 no utr-3 BIN2 NM_016293.2 13,161,2109 TT,TC,CC 1.0371,11.1272,4.0955 51675208 187,4379 692 1591 2283 SO:0001624 3_prime_UTR_variant AF146531 CCDS8811.1 12q13.13 2012-01-23 ENSG00000110934 ENSG00000110934 51411 1053 protein-coding gene gene with protein product 605936 NA 10903846 Standard XM_005268957 NA Approved BRAP-1 uc001ryg.3 Q9UBW5 ENST00000267012.4:c.*75G>A chr12.hg19:g.51675208C>T NA Q86VV0|Q9NWK4|Q9UKN4 hg19 CCDS8811.1 0.02 4.474059 ATCxCTC COVERED NOVEL BIN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000469800.1 1 3.31057 KEEP 0 0 0 11 371 CC 0.993072 0.993072 0 - 9 60 340 0 0 23.880582 128 60 4481 150 ENST00000267012.4 0.065693 1 BIN2 51411 __UNKNOWN__ __UNKNOWN__ 12 51685881 51685881 __UNKNOWN__ Silent SNP G G A rs147701707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51685881G>A ENST00000267012.4 - 10 1070 c.1009C>T c.(1009-1011)Cta>Tta p.L337L BIN2_ENST00000544402.1_Silent_p.L311L|BIN2_ENST00000604560.1_Silent_p.L310L|BIN2_ENST00000452142.2_Silent_p.L305L NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 337 NA cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102) phospholipid binding (GO:0005543) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CAGGCTGGTAGAGGCTCATCT 0.557 NA G||| 23 0.00459265 0.0 0.0 5008 , , NA 16866 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 53 50 51 NA NA 12 NA 51685881 2203 4300 6503 SO:0001819 synonymous_variant AF146531 CCDS8811.1 12q13.13 2012-01-23 ENSG00000110934 ENSG00000110934 51411 1053 protein-coding gene gene with protein product 605936 NA 10903846 Standard XM_005268957 NA Approved BRAP-1 uc001ryg.3 Q9UBW5 ENST00000267012.4:c.1009C>T chr12.hg19:g.51685881G>A NA Q86VV0|Q9NWK4|Q9UKN4 hg19 CCDS8811.1 0.02 8.074223 GTAxAGG COVERED NOVEL BIN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000469800.1 2 7.222332 KEEP 0 0 0 24 814 GG 0.999909 0.999909 0 - 16 60 557 0 0 37.9084 221 60 7978 296 ENST00000267012.4 0.067511 1 CELA1 1990 __UNKNOWN__ __UNKNOWN__ 12 51733734 51733734 __UNKNOWN__ Silent SNP G G A rs17860317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:51733734G>A ENST00000293636.1 - 6 559 c.519C>T c.(517-519)taC>taT p.Y173Y NM_001971.5 NP_001962.3 Q9UNI1 CELA1_HUMAN chymotrypsin-like elastase family, member 1 173 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055) extracellular region (GO:0005576) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 AGCAGATGGCGTAGTCCACAG 0.587 NA G||| 1176 0.234824 0.2126 0.3213 5008 , , NA 21624 0.4048 NA 0.1173 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 G 829,3577 326.9+/-299.8 76,677,1450 73 54 60 519 -9.5 0 12 dbSNP_123 60 925,7675 204.7+/-247.3 57,811,3432 no coding-synonymous CELA1 NM_001971.5 133,1488,4882 AA,AG,GG 10.7558,18.8153,13.4861 173/259 51733734 1754,11252 2203 4300 6503 SO:0001819 synonymous_variant CCDS8812.1 12q13 2012-10-02 2009-05-05 2009-05-05 ENSG00000139610 ENSG00000139610 1990 3308 protein-coding gene gene with protein product 130120 elastase 1, pancreatic ELA1 NA Standard NM_001971 NM_001971 NA Approved uc001ryi.1 Q9UNI1 OTTHUMG00000167523 ENST00000293636.1:c.519C>T chr12.hg19:g.51733734G>A NA Q5MLF0|Q6DJT0|Q6ISM6 hg19 CCDS8812.1 0.02 6.928403 GGCxTAG COVERED NOVEL CELA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000394901.1 2 11.737687 KEEP 0 0 0 39 1359 GG 1 1 0 - 22 60 817 0 0 63.467896 153 60 5227 265 ENST00000293636.1 0.125714 1 SCN8A 6334 __UNKNOWN__ __UNKNOWN__ 12 52184271 52184271 __UNKNOWN__ Silent SNP T T C rs303815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52184271T>C ENST00000354534.6 + 25 4687 c.4509T>C c.(4507-4509)ccT>ccC p.P1503P SCN8A_ENST00000545061.1_Silent_p.P1462P NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1503 NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Valproic Acid(DB00313) CACAGAAACCTATTCCCCGCC 0.473 NA T||| 2523 0.503794 0.3003 0.7493 5008 , , NA 20978 0.5724 NA 0.7306 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 T , 1494,2532 292,910,811 49 49 49 4386,4509 2.8 1 12 dbSNP_79 49 6296,2130 2347,1602,264 no coding-synonymous,coding-synonymous SCN8A NM_001177984.1,NM_014191.2 , 2639,2512,1075 CC,CT,TT 25.2789,37.1088,37.4398 , 1462/1940,1503/1981 52184271 7790,4662 2013 4213 6226 SO:0001819 synonymous_variant AB027567 CCDS44891.1, CCDS53794.1 12q13.1 2012-02-26 2007-01-23 ENSG00000196876 6334 Sodium channels, Voltage-gated ion channels / Sodium channels 10596 protein-coding gene gene with protein product 600702 sodium channel, voltage gated, type VIII, alpha polypeptide MED NA 7670495, 9828131, 16382098 Standard NM_014191 NM_014191 NA Approved Nav1.6, NaCh6, PN4, CerIII uc001ryw.4 Q9UQD0 ENST00000354534.6:c.4509T>C chr12.hg19:g.52184271T>C NA B9VWG8|O95788|Q9NYX2|Q9UPB2 hg19 CCDS44891.1 0.02 4.902747 ACCxATT COVERED NOVEL SCN8A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404372.3 0 6.105947 KEEP 0 1 7 23 706 TT 0.999909 0.999909 0 + 10 60 369 0 0 25.874167 135 60 4813 209 ENST00000354534.6 0.068966 1 SCN8A 6334 __UNKNOWN__ __UNKNOWN__ 12 52200742 52200742 __UNKNOWN__ Silent SNP C C A rs60637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52200742C>A ENST00000354534.6 + 27 5650 c.5472C>A c.(5470-5472)ccC>ccA p.P1824P SCN8A_ENST00000545061.1_Silent_p.P1783P NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1824 NA adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Valproic Acid(DB00313) TGCCCAAGCCCAATACCATTG 0.552 NA C||| 2449 0.489018 0.2526 0.7464 5008 , , NA 21281 0.5665 NA 0.7276 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 C , 1391,2853 236,919,967 73 74 73 5349,5472 2.2 1 12 dbSNP_79 73 6345,2165 2360,1625,270 no coding-synonymous,coding-synonymous SCN8A NM_001177984.1,NM_014191.2 , 2596,2544,1237 AA,AC,CC 25.4407,32.7757,39.3445 , 1783/1940,1824/1981 52200742 7736,5018 2122 4255 6377 SO:0001819 synonymous_variant AB027567 CCDS44891.1, CCDS53794.1 12q13.1 2012-02-26 2007-01-23 ENSG00000196876 6334 Sodium channels, Voltage-gated ion channels / Sodium channels 10596 protein-coding gene gene with protein product 600702 sodium channel, voltage gated, type VIII, alpha polypeptide MED NA 7670495, 9828131, 16382098 Standard NM_014191 NM_014191 NA Approved Nav1.6, NaCh6, PN4, CerIII uc001ryw.4 Q9UQD0 ENST00000354534.6:c.5472C>A chr12.hg19:g.52200742C>A NA B9VWG8|O95788|Q9NYX2|Q9UPB2 hg19 CCDS44891.1 0.02 18.694967 GCCxAAT COVERED NOVEL SCN8A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404372.3 6 12.941933 KEEP 0 0 0 43 1505 CC 1 1 0 + 24 60 892 0 0 60.390503 409 60 15058 559 ENST00000354534.6 0.055427 1 RP11-923I11.4 0 __UNKNOWN__ __UNKNOWN__ 12 52225638 52225638 __UNKNOWN__ lincRNA SNP T T A rs633370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52225638T>A ENST00000567167.1 + 0 846 NA NA NA TATATATACAtttttgagaca 0.483 NA T||| 1963 0.391973 0.2504 0.3602 5008 , , NA 16850 0.4623 NA 0.5646 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000567167.1: chr12.hg19:g.52225638T>A NA hg19 0.02 2.247102 ACAxTTT COVERED NOVEL RP11-923I11.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000421347.1 0 5.417169 KEEP 0 0 0 18 600 TT 0.999859 0.997757 0 + 6 60 222 0 0 16.05861 67 60 2388 107 ENST00000567167.1 0.082192 0.997898 ANKRD33 341405 __UNKNOWN__ __UNKNOWN__ 12 52281920 52281920 __UNKNOWN__ 5'UTR SNP G G A rs697633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52281920G>A ENST00000301190.6 + 0 177 ANKRD33_ENST00000538991.1_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914) cytosol (GO:0005829)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TGGGGCCCCAGTCCCAGCTGC 0.652 NA A||| 2340 0.467252 0.472 0.5922 5008 , , NA 14244 0.4871 NA 0.328 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 A , 1905,2501 620.5+/-393.6 393,1119,691 51 56 55 , 0.6 0 12 dbSNP_86 55 3040,5560 659.0+/-401.6 512,2016,1772 no utr-5,utr-5 ANKRD33 NM_001130015.1,NM_182608.3 , 905,3135,2463 AA,AG,GG 35.3488,43.2365,38.0209 , , 52281920 4945,8061 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS8815.1, CCDS44892.1 12q13.13 2013-01-10 2005-01-07 2005-01-07 ENSG00000167612 341405 Ankyrin repeat domain containing 13788 protein-coding gene gene with protein product chromosome 12 open reading frame 7 C12orf7 NA 20026326 Standard NM_182608 NM_182608 NA Approved DKFZp686O1689, PANKY uc001rzd.3 Q7Z3H0 OTTHUMG00000169506 ENST00000301190.6:c.-51G>A chr12.hg19:g.52281920G>A NA Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0 hg19 CCDS8815.1 0.02 4.338174 CCAxTCC COVERED NOVEL ANKRD33-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000404511.1 1 14.446435 KEEP 0 0 0 48 1679 GG 1 1 0 + 5 60 188 1 0 11.805442 136 60 5073 219 ENST00000301190.6 0.035461 1 ANKRD33 341405 __UNKNOWN__ __UNKNOWN__ 12 52282060 52282060 __UNKNOWN__ Silent SNP C C T rs697634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52282060C>T ENST00000301190.6 + 1 317 c.90C>T c.(88-90)cgC>cgT p.R30R ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000547119.1_3'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914) cytosol (GO:0005829)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TTGTGCTCCGCGGAGCCTGGG 0.567 NA C||| 1661 0.331669 0.149 0.451 5008 , , NA 16569 0.4117 NA 0.2952 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 C , 681,3725 287.2+/-279.2 55,571,1577 101 93 95 ,90 -4.7 0 12 dbSNP_86 95 2676,5924 429.8+/-356.3 396,1884,2020 no utr-5,coding-synonymous ANKRD33 NM_001130015.1,NM_182608.3 , 451,2455,3597 TT,TC,CC 31.1163,15.4562,25.8112 , ,30/453 52282060 3357,9649 2203 4300 6503 SO:0001819 synonymous_variant CCDS8815.1, CCDS44892.1 12q13.13 2013-01-10 2005-01-07 2005-01-07 ENSG00000167612 341405 Ankyrin repeat domain containing 13788 protein-coding gene gene with protein product chromosome 12 open reading frame 7 C12orf7 NA 20026326 Standard NM_182608 NM_182608 NA Approved DKFZp686O1689, PANKY uc001rzd.3 Q7Z3H0 OTTHUMG00000169506 ENST00000301190.6:c.90C>T chr12.hg19:g.52282060C>T NA Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0 hg19 CCDS8815.1 0.02 14.048643 CCGxGGA COVERED NOVEL ANKRD33-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000404511.1 1 25.881384 KEEP 0 0 0 86 3002 CC 1 1 0 + 12 60 391 0 0 21.911703 361 60 12889 588 ENST00000301190.6 0.032172 1 ANKRD33 341405 __UNKNOWN__ __UNKNOWN__ 12 52282748 52282748 __UNKNOWN__ Intron SNP G G A rs697635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52282748G>A ENST00000301190.6 + 3 623 ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Intron|ANKRD33_ENST00000547119.1_Intron NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914) cytosol (GO:0005829)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGGTCTTCACGGGGTTTGGGG 0.637 NA A||| 1666 0.332668 0.1573 0.4135 5008 , , NA 18932 0.4206 NA 0.3062 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8815.1, CCDS44892.1 12q13.13 2013-01-10 2005-01-07 2005-01-07 ENSG00000167612 341405 Ankyrin repeat domain containing 13788 protein-coding gene gene with protein product chromosome 12 open reading frame 7 C12orf7 NA 20026326 Standard NM_182608 NM_182608 NA Approved DKFZp686O1689, PANKY uc001rzd.3 Q7Z3H0 OTTHUMG00000169506 ENST00000301190.6:c.397-103G>A chr12.hg19:g.52282748G>A NA Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0 hg19 CCDS8815.1 0.02 9.209122 CACxGGG COVERED NOVEL ANKRD33-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000404511.1 0 7.958611 KEEP 0 1 33 38 1282 GG 1 1 0 + 7 60 268 0 0 16.500036 226 60 7642 321 ENST00000301190.6 0.030043 1 ANKRD33 341405 __UNKNOWN__ __UNKNOWN__ 12 52282873 52282873 __UNKNOWN__ Missense_Mutation SNP A A T rs697636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52282873A>T ENST00000301190.6 + 3 646 c.419A>T c.(418-420)tAc>tTc p.Y140F ANKRD33_ENST00000538991.1_Intron|ANKRD33_ENST00000340970.4_Missense_Mutation_p.Y5F|ANKRD33_ENST00000547119.1_3'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 5 NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914) cytosol (GO:0005829)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GTCGCATGCTACCACGGCTTC 0.612 NA A||| 1622 0.323882 0.1241 0.4135 5008 , , NA 18189 0.4216 NA 0.3062 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 A PHE/TYR,PHE/TYR 634,3772 273.7+/-271.5 50,534,1619 98 100 100 14,419 1.5 0.9 12 dbSNP_86 100 2800,5800 443.6+/-360.4 437,1926,1937 yes missense,missense ANKRD33 NM_001130015.1,NM_182608.3 22,22 487,2460,3556 TT,TA,AA 32.5581,14.3895,26.4032 possibly-damaging,possibly-damaging 5/273,140/453 52282873 3434,9572 2203 4300 6503 SO:0001583 missense CCDS8815.1, CCDS44892.1 12q13.13 2013-01-10 2005-01-07 2005-01-07 ENSG00000167612 341405 Ankyrin repeat domain containing 13788 protein-coding gene gene with protein product chromosome 12 open reading frame 7 C12orf7 NA 20026326 Standard NM_182608 NM_182608 NA Approved DKFZp686O1689, PANKY uc001rzd.3 Q7Z3H0 OTTHUMG00000169506 ENST00000301190.6:c.419A>T chr12.hg19:g.52282873A>T ENSP00000301190:p.Tyr140Phe NA Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0 hg19 CCDS8815.1 0.02 9.896458 GCTxCCA COVERED 697 0.3191391941391941 64 0.13008130081300814 130 0.35911602209944754 259 0.4527972027972028 244 0.32189973614775724 A 6.397 0.441362 0.12164 0.143895 0.325581 ENSG00000167612 ENST00000301190;ENST00000340970 T;T 0.63913 -0.07;-0.07 3.98 1.46 0.22682 Ankyrin repeat-containing domain (3); 0.617999 0.14988 N 0.286846 T 0.00012 0.0000 L 0.31294 0.92 0.58432 P 1.0000000000287557E-6 B;D 0.61697 0.134;0.99 B;P 0.57911 0.038;0.829 T 0.36939 -0.9727 9 0.16896 T 0.51 -0.332 6.7499 0.23482 0.7939:0.0:0.2061:0.0 rs697636;rs1690235;rs17700775;rs59137362;rs697636 5;140 Q7Z3H0;Q7Z3H0-2 ANR33_HUMAN;. F 140;5 ENSP00000301190:Y140F;ENSP00000344690:Y5F ENSP00000301190:Y140F Y + 2 0 ANKRD33 50569140 0.005000 0.15991 0.930000 0.37139 0.049000 0.14656 -0.226000 0.09139 0.181000 0.19994 0.379000 0.24179 TAC NOVEL ANKRD33-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000404511.1 2 14.74025 KEEP 0 0 0 49 1434 AA 1 1 0 + 10 60 325 0 0 19.040669 269 60 9118 395 ENST00000301190.6 0.035842 1 ACVRL1 94 __UNKNOWN__ __UNKNOWN__ 12 52316603 52316603 __UNKNOWN__ 3'UTR SNP T T C rs2293094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52316603T>C ENST00000550683.1 + 0 3581 ACVRL1_ENST00000550084.1_Intron NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 NA NA activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313) cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025) activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GCCGGCATCTTATGTGTGTCT 0.562 NA OREG0021826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 885 0.176717 0.0968 0.0965 5008 , , NA 18679 0.3978 NA 0.1312 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L17075 CCDS31804.1 12q13.13 2014-09-17 ENSG00000139567 ENSG00000139567 94 175 protein-coding gene gene with protein product 601284 ACVRLK1, ORW2 NA 8397373, 8640225 Standard NM_000020 NA Approved HHT2, ALK1, HHT uc001rzk.3 P37023 OTTHUMG00000169507 ENST00000550683.1:c.*1926T>C chr12.hg19:g.52316603T>C 984 A6NGA8 hg19 0.02 9.354098 TCTxATG COVERED NOVEL ACVRL1-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000404523.2 2 13.537893 KEEP 0 0 0 45 1340 TT 1 1 0 + 7 60 266 0 0 16.223215 232 60 8272 339 ENST00000550683.1 0.029289 1 KRT80 144501 __UNKNOWN__ __UNKNOWN__ 12 52564282 52564282 __UNKNOWN__ 3'UTR SNP C C T rs3803081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52564282C>T ENST00000394815.2 - 0 2356 KRT80_ENST00000313234.5_3'UTR NM_182507.2 NP_872313.2 Q6KB66 K2C80_HUMAN keratin 80 NA NA cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CACCAAAGCCCGGTGCTCAGG 0.627 NA c||| 1000 0.199681 0.2307 0.1744 5008 , , NA 17251 0.1706 NA 0.2863 False NA ,,, NA NA NA 2504 0.1166 NA NA NA GBM(178;2309 2916 15678 35873) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537567 CCDS8821.2, CCDS41784.1 12q13.13 2013-01-16 ENSG00000167767 ENSG00000167767 144501 -, Intermediate filaments type II, keratins (basic) 27056 protein-coding gene gene with protein product 611161 NA 16831889 Standard NM_182507 NM_001081492 NA Approved KB20 uc001rzx.3 Q6KB66 OTTHUMG00000150193 ENST00000394815.2:c.*900G>A chr12.hg19:g.52564282C>T NA Q6P1A5|Q7Z3Q0 hg19 CCDS8821.2 0.02 6.69604 GCCxGGT COVERED NOVEL KRT80-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316757.1 3 16.550235 KEEP 0 0 0 55 1835 CC 1 1 0 - 8 60 306 0 0 20.015759 182 60 6342 301 ENST00000394815.2 0.042105 1 KRT80 144501 __UNKNOWN__ __UNKNOWN__ 12 52566047 52566047 __UNKNOWN__ Silent SNP G G A rs3741736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52566047G>A ENST00000394815.2 - 7 1210 c.1113C>T c.(1111-1113)aaC>aaT p.N371N KRT80_ENST00000313234.5_Silent_p.N371N NM_182507.2 NP_872313.2 Q6KB66 K2C80_HUMAN keratin 80 371 Coil 2.|Rod. NA cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CCAGCTTGACGTTCATCAGCT 0.657 NA G||| 1661 0.331669 0.2852 0.2968 5008 , , NA 19597 0.2907 NA 0.4513 False NA ,,, NA NA NA 2504 0.3384 NA NA NA GBM(178;2309 2916 15678 35873) NA 0 G , 1315,3091 444.3+/-347.3 197,921,1085 101 90 94 1113,1113 -3.1 0.7 12 dbSNP_107 94 3352,5248 497.8+/-374.6 656,2040,1604 no coding-synonymous,coding-synonymous KRT80 NM_001081492.1,NM_182507.2 , 853,2961,2689 AA,AG,GG 38.9767,29.8457,35.8834 , 371/423,371/453 52566047 4667,8339 2203 4300 6503 SO:0001819 synonymous_variant BX537567 CCDS8821.2, CCDS41784.1 12q13.13 2013-01-16 ENSG00000167767 ENSG00000167767 144501 -, Intermediate filaments type II, keratins (basic) 27056 protein-coding gene gene with protein product 611161 NA 16831889 Standard NM_182507 NM_001081492 NA Approved KB20 uc001rzx.3 Q6KB66 OTTHUMG00000150193 ENST00000394815.2:c.1113C>T chr12.hg19:g.52566047G>A NA Q6P1A5|Q7Z3Q0 hg19 CCDS8821.2 0.02 2.120901 GACxTTC COVERED NOVEL KRT80-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316757.1 0 9.625261 KEEP 0 0 0 32 1032 GG 0.999997 0.998693 0 - 4 60 150 0 0 10.104858 72 60 2418 127 ENST00000394815.2 0.052632 0.998696 KRT86 3892 __UNKNOWN__ __UNKNOWN__ 12 52699590 52699590 __UNKNOWN__ Intron SNP C C G rs200865593 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52699590C>G ENST00000423955.2 + 8 1204 KRT86_ENST00000544024.1_Intron|KRT86_ENST00000293525.5_Intron O43790 KRT86_HUMAN keratin 86 NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) GCATCTGTGCCCAAGGTCAGA 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 95 85 88 NA NA 12 NA 52699590 2203 4300 6503 SO:0001627 intron_variant X99142 CCDS41785.1 12q13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170442 3892 -, Intermediate filaments type II, keratins (basic) 6463 protein-coding gene gene with protein product hard keratin type II 6 601928 keratin, hair, basic, 6 (monilethrix) KRTHB6 NA 9241275, 16831889 Standard NM_002284 NM_002284 NA Approved MNX, Hb6 uc001sad.3 O43790 ENST00000423955.2:c.1026+18C>G chr12.hg19:g.52699590C>G NA P78387 hg19 CCDS41785.1 0.02 5.956357 TGCxCAA COVERED NOVEL KRT86-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404911.1 0 3.912779 KEEP 0 0 0 13 460 CC 0.994391 0.994391 0 + 7 44 249 0 0 15.573351 163 60 5894 209 ENST00000423955.2 0.041176 1 KRT75 9119 __UNKNOWN__ __UNKNOWN__ 12 52818070 52818070 __UNKNOWN__ 3'UTR SNP A A G rs188462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52818070A>G ENST00000252245.5 - 0 2107 RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 NA NA hematopoietic progenitor cell differentiation (GO:0002244) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TGAGAGCCTTAGGAGAGAGCA 0.607 NA G||| 1236 0.246805 0.0416 0.2349 5008 , , NA 20149 0.4484 NA 0.3718 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y19212 CCDS8827.1 12q13.13 2013-06-25 ENSG00000170454 ENSG00000170454 9119 -, Intermediate filaments type II, keratins (basic) 24431 protein-coding gene gene with protein product 609025 NA 9856802, 10692104, 16831889 Standard NM_004693 NM_004693 NA Approved K6HF uc001saj.2 O95678 OTTHUMG00000169592 ENST00000252245.5:c.*231T>C chr12.hg19:g.52818070A>G NA B4DQU4|Q9NSA9 hg19 CCDS8827.1 0.02 5.069255 CTTxGGA COVERED NOVEL KRT75-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404968.1 0 6.017613 KEEP 0 0 0 20 615 AA 0.999863 0.999862 0 - 9 60 345 0 0 24.717328 117 60 4272 174 ENST00000252245.5 0.071429 1 KRT75 9119 __UNKNOWN__ __UNKNOWN__ 12 52822128 52822128 __UNKNOWN__ Missense_Mutation SNP G G A rs2232406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52822128G>A ENST00000252245.5 - 7 1514 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 432 Coil 2.|Rod. NA R -> C (in dbSNP:rs2232406). hematopoietic progenitor cell differentiation (GO:0002244) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TGGTACTCACGCAGGAGCCGA 0.622 NA G||| 30 0.00599042 0.0008 0.0 5008 , , NA 13669 0.0278 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G CYS/ARG 0,4406 0,0,2203 54 43 47 1294 2.7 0.3 12 dbSNP_98 47 4,8596 3.7+/-12.6 0,4,4296 no missense KRT75 NM_004693.2 180 0,4,6499 AA,AG,GG 0.0465,0.0,0.0308 probably-damaging 432/552 52822128 4,13002 2203 4300 6503 SO:0001583 missense Y19212 CCDS8827.1 12q13.13 2013-06-25 ENSG00000170454 ENSG00000170454 9119 -, Intermediate filaments type II, keratins (basic) 24431 protein-coding gene gene with protein product 609025 NA 9856802, 10692104, 16831889 Standard NM_004693 NM_004693 NA Approved K6HF uc001saj.2 O95678 OTTHUMG00000169592 ENST00000252245.5:c.1294C>T chr12.hg19:g.52822128G>A ENSP00000252245:p.Arg432Cys NA B4DQU4|Q9NSA9 hg19 CCDS8827.1 0.02 4.275091 CACxCAG COVERED 22 0.010073260073260074 1 0.0020325203252032522 0 0.0 20 0.03496503496503497 1 0.0013192612137203166 G 16.10 3.028703 0.54790 0.0 4.65E-4 ENSG00000170454 ENST00000252245 D 0.88124 -2.34 5.63 2.7 0.31948 Filament (1); 0.000000 0.49916 D 0.000132 T 0.76011 0.3928 M 0.83852 2.665 0.43745 D 0.996242 P 0.41524 0.753 B 0.41135 0.348 T 0.82281 -0.0535 10 0.62326 D 0.03 . 15.169 0.72854 0.0:0.0:0.3942:0.6058 rs2232406;rs2232406 432 O95678 K2C75_HUMAN C 432 ENSP00000252245:R432C ENSP00000252245:R432C R - 1 0 KRT75 51108395 0.975000 0.34042 0.350000 0.25708 0.968000 0.65278 2.896000 0.48656 0.266000 0.21894 0.561000 0.74099 CGT NOVEL KRT75-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404968.1 0 4.212224 KEEP 0 0 0 14 431 GG 0.995343 0.995343 0 - 11 60 389 0 0 27.535332 126 60 4080 168 ENST00000252245.5 0.080292 1 KRT75 9119 __UNKNOWN__ __UNKNOWN__ 12 52824352 52824352 __UNKNOWN__ Silent SNP G G A rs395623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52824352G>A ENST00000252245.5 - 5 1228 c.1008C>T c.(1006-1008)gcC>gcT p.A336A NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 336 Coil 2.|Rod. NA hematopoietic progenitor cell differentiation (GO:0002244) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) ACTCAGCCTCGGCCCGGCTGC 0.552 NA G||| 1214 0.242412 0.0272 0.232 5008 , , NA 19985 0.4494 NA 0.3708 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G 317,4089 170.9+/-201.2 15,287,1901 178 160 166 1008 -11.5 0.1 12 dbSNP_80 166 3227,5373 487.3+/-372.1 610,2007,1683 no coding-synonymous KRT75 NM_004693.2 625,2294,3584 AA,AG,GG 37.5233,7.1947,27.249 336/552 52824352 3544,9462 2203 4300 6503 SO:0001819 synonymous_variant Y19212 CCDS8827.1 12q13.13 2013-06-25 ENSG00000170454 ENSG00000170454 9119 -, Intermediate filaments type II, keratins (basic) 24431 protein-coding gene gene with protein product 609025 NA 9856802, 10692104, 16831889 Standard NM_004693 NM_004693 NA Approved K6HF uc001saj.2 O95678 OTTHUMG00000169592 ENST00000252245.5:c.1008C>T chr12.hg19:g.52824352G>A NA B4DQU4|Q9NSA9 hg19 CCDS8827.1 0.02 4.282319 CTCxGCC COVERED NOVEL KRT75-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404968.1 0 4.213343 KEEP 0 0 0 14 474 GG 0.995343 0.995343 0 - 8 60 293 1 0 19.934123 127 60 4298 171 ENST00000252245.5 0.059259 1 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52843779 52843779 __UNKNOWN__ Intron SNP T T C rs380379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52843779T>C ENST00000252252.3 - 3 864 NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B NA NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) TTTGAACCCCTGGCTTCATCT 0.478 NA T||| 702 0.140176 0.1089 0.1671 5008 , , NA 26508 0.1637 NA 0.1133 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 156 145 149 NA NA 12 NA 52843779 2203 4300 6503 SO:0001627 intron_variant BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.816+16A>G chr12.hg19:g.52843779T>C NA P48669 hg19 CCDS8828.1 0.02 9.693611 CCCxGGC COVERED NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 0 3.610564 KEEP 2 0 0 12 362 TT 0.993634 0.993634 0 - 12 57 416 0 0 27.067098 210 60 7698 244 ENST00000252252.3 0.054054 1 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52843783 52843783 __UNKNOWN__ Intron SNP T T C rs535960680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52843783T>C ENST00000252252.3 - 3 864 NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B NA NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) AACCCCTGGCTTCATCTGCTC 0.478 NA T||| 305 0.0609026 0.0908 0.0836 5008 , , NA 24919 0.0179 NA 0.0298 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.816+12A>G chr12.hg19:g.52843783T>C NA P48669 hg19 CCDS8828.1 0.02 9.288905 GGCxTCA COVERED NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 0 4.211177 KEEP 6 0 0 14 412 TT 0.993634 0.993634 0 - 11 40 389 0 0 24.958247 223 60 8229 259 ENST00000252252.3 0.047009 1 KRT6B 3854 __UNKNOWN__ __UNKNOWN__ 12 52845531 52845531 __UNKNOWN__ Missense_Mutation SNP C C T rs61914499 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52845531C>T ENST00000252252.3 - 1 379 c.332G>A c.(331-333)gGt>gAt p.G111D NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 111 Head. NA ectoderm development (GO:0007398) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural constituent of cytoskeleton (GO:0005200) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) ACCACCCAGACCAAAGCCAAT 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 6 9 8 NA NA 12 NA 52845531 2077 4149 6226 SO:0001583 missense BC034535 CCDS8828.1 12q13.13 2013-01-16 2004-08-11 ENSG00000185479 ENSG00000185479 3854 -, Intermediate filaments type II, keratins (basic) 6444 protein-coding gene gene with protein product 148042 keratin-like 1 (a type II keratin sequence) KRTL1 NA 1713141, 16831889 Standard NM_005555 NM_005555 NA Approved uc001sak.3 P04259 OTTHUMG00000169593 ENST00000252252.3:c.332G>A chr12.hg19:g.52845531C>T ENSP00000252252:p.Gly111Asp NA P48669 hg19 CCDS8828.1 0.02 -0.280714 AGAxCAA UNCOVERED . . . . . . . . . . C 15.10 2.731876 0.48939 . . ENSG00000185479 ENST00000252252;ENST00000544607 D 0.97941 -4.62 3.07 3.07 0.35406 . 0.000000 0.50627 D 0.000103 D 0.98770 0.9586 M 0.93328 3.405 0.50171 D 0.999859 D 0.76494 0.999 D 0.65010 0.931 D 0.98614 1.0664 10 0.51188 T 0.08 . 13.9385 0.64041 0.0:1.0:0.0:0.0 . 111 P04259 K2C6B_HUMAN D 111 ENSP00000252252:G111D ENSP00000252252:G111D G - 2 0 KRT6B 51131798 0.037000 0.19845 0.815000 0.32552 0.622000 0.37654 1.492000 0.35594 2.048000 0.60808 0.298000 0.19748 GGT NOVEL KRT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404969.1 0 2.708432 KEEP 16 0 0 9 308 CC 0 0 0 - 3 39 92 0 0 6.313145 29 48 1017 61 ENST00000252252.3 0.09375 0.739671 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52863038 52863038 __UNKNOWN__ Silent SNP G G A rs410562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52863038G>A ENST00000252250.6 - 9 1550 c.1503C>T c.(1501-1503)agC>agT p.S501S NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 501 Tail. NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) TGCCGACACCGCTGGCACCGC 0.612 NA G||| 1253 0.2502 0.0242 0.2651 5008 , , NA 19993 0.4812 NA 0.3628 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 G 314,4092 166.2+/-197.5 15,284,1904 42 40 41 1503 -6.3 0 12 dbSNP_80 41 3150,5450 457.5+/-364.3 579,1992,1729 no coding-synonymous KRT6C NM_173086.4 594,2276,3633 AA,AG,GG 36.6279,7.1266,26.6339 501/565 52863038 3464,9542 2203 4300 6503 SO:0001819 synonymous_variant L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.1503C>T chr12.hg19:g.52863038G>A NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 8.787844 ACCxCTG COVERED NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 2 2.341095 KEEP 1 1 29 18 602 GG 0.99986 0.99986 0 - 16 60 561 0 0 38.716898 208 60 7244 270 ENST00000252250.6 0.071429 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52863213 52863213 __UNKNOWN__ Missense_Mutation SNP C C T rs412533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52863213C>T ENST00000252250.6 - 8 1488 c.1441G>A c.(1441-1443)Gtt>Att p.V481I NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 481 Tail. NA V -> I (in dbSNP:rs412533). {ECO:0000269|PubMed:7543104}. intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) ACTTGTCCAACGCCTTCGCCA 0.607 NA C||| 1250 0.249601 0.0242 0.2637 5008 , , NA 21887 0.4812 NA 0.3628 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 C ILE/VAL 316,4090 170.5+/-200.9 15,286,1902 140 109 119 1441 3.6 1 12 dbSNP_80 119 3163,5437 480.9+/-370.5 583,1997,1720 no missense KRT6C NM_173086.4 29 598,2283,3622 TT,TC,CC 36.7791,7.172,26.7492 possibly-damaging 481/565 52863213 3479,9527 2203 4300 6503 SO:0001583 missense L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.1441G>A chr12.hg19:g.52863213C>T ENSP00000252250:p.Val481Ile NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 6.906912 CAAxGCC COVERED 730 0.3342490842490842 19 0.03861788617886179 116 0.32044198895027626 320 0.5594405594405595 275 0.3627968337730871 C 12.01 1.809706 0.31961 0.07172 0.367791 ENSG00000170465 ENST00000252250;ENST00000411979 D 0.92495 -3.05 3.57 3.57 0.40892 . 0.000000 0.49305 D 0.000143 T 0.00012 0.0000 L 0.54323 1.7 0.40382 P 0.020545000000000035 P 0.44006 0.824 B 0.27500 0.08 T 0.42766 -0.9432 9 0.39692 T 0.17 . 11.8038 0.52143 0.1761:0.8239:0.0:0.0 rs412533 481 P48668 K2C6C_HUMAN I 481;466 ENSP00000252250:V481I ENSP00000252250:V481I V - 1 0 KRT6C 51149480 0.007000 0.16637 0.994000 0.49952 0.774000 0.43823 0.864000 0.27926 1.983000 0.57843 0.448000 0.29417 GTT NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 0 4.84994 KEEP 0 1 31 27 927 CC 0.999997 0.999997 0 - 17 60 595 0 0 42.941917 172 60 5956 264 ENST00000252250.6 0.089947 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52864240 52864240 __UNKNOWN__ Intron SNP G G T rs415580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52864240G>T ENST00000252250.6 - 6 1251 NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C NA NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) ACTGCCTGATGGGTCTAGCAA 0.448 NA G||| 1253 0.2502 0.0242 0.2651 5008 , , NA 24225 0.4812 NA 0.3628 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 G 316,4090 166.5+/-197.7 15,286,1902 131 115 121 -0.7 0 12 dbSNP_80 121 3161,5439 476.1+/-369.3 583,1995,1722 no intron KRT6C NM_173086.4 598,2281,3624 TT,TG,GG 36.7558,7.172,26.7338 52864240 3477,9529 2203 4300 6503 SO:0001627 intron_variant L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.1203+48C>A chr12.hg19:g.52864240G>T NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 28.034036 GATxGGT COVERED NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 4 4.620681 KEEP 0 3 96 49 1765 GG 1 1 0 - 39 60 1415 0 0 95.144748 646 60 24481 888 ENST00000252250.6 0.056934 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52864843 52864843 __UNKNOWN__ Intron SNP G G A rs604303 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52864843G>A ENST00000252250.6 - 5 1125 NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C NA NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GATGTCCCCAGTGAAGTCTGC 0.542 NA A||| 1249 0.249401 0.0242 0.2651 5008 , , NA 21090 0.4772 NA 0.3628 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.1077+72C>T chr12.hg19:g.52864843G>A NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 8.717967 CCAxTGA COVERED NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 1 5.109387 KEEP 0 0 0 17 599 GG 0.999366 0.999366 0 - 13 60 471 0 0 32.189628 195 60 7424 260 ENST00000252250.6 0.0625 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52865548 52865548 __UNKNOWN__ Intron SNP G G C rs28759265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52865548G>C ENST00000252250.6 - 3 803 NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C NA NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) ACACATATGAGCCAGTGGGTA 0.428 NA G||| 1251 0.2498 0.0242 0.2651 5008 , , NA 20711 0.4812 NA 0.3628 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 G 316,4090 169.1+/-199.8 15,286,1902 105 99 101 3 0 12 dbSNP_125 101 3163,5437 477.6+/-369.7 584,1995,1721 no intron KRT6C NM_173086.4 599,2281,3623 CC,CG,GG 36.7791,7.172,26.7492 52865548 3479,9527 2203 4300 6503 SO:0001627 intron_variant L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.756-32C>G chr12.hg19:g.52865548G>C NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 19.319144 TGAxCCA COVERED NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 2 15.350648 KEEP 1 0 0 51 1855 GG 1 1 0 - 17 60 633 0 0 39.416359 469 60 18049 705 ENST00000252250.6 0.034979 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52865592 52865592 __UNKNOWN__ Intron SNP A A T rs644414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52865592A>T ENST00000252250.6 - 3 803 NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C NA NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GGATTCAACAATTTCCTGAAT 0.413 NA T||| 1256 0.250799 0.025 0.2651 5008 , , NA 18030 0.4812 NA 0.3648 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.756-76T>A chr12.hg19:g.52865592A>T NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 17.818958 ACAxTTT COVERED NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 1 9.930564 KEEP 1 0 0 33 1058 AA 0.999998 0.999998 0 - 15 49 544 0 0 33.497995 405 60 14765 568 ENST00000252250.6 0.035714 1 KRT6C 286887 __UNKNOWN__ __UNKNOWN__ 12 52865918 52865918 __UNKNOWN__ Silent SNP G G C rs425073 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52865918G>C ENST00000252250.6 - 2 734 c.687C>G c.(685-687)gtC>gtG p.V229V NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 229 Coil 1B.|Rod. NA intermediate filament cytoskeleton organization (GO:0045104) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CCCGTTCCCCGACGATGCTGT 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 C 29,4375 9,11,2182 140 93 109 687 -5.8 0 12 dbSNP_80 109 996,7490 394,208,3641 no coding-synonymous KRT6C NM_173086.4 403,219,5823 CC,CG,GG 11.737,0.6585,7.9519 229/565 52865918 1025,11865 2202 4243 6445 SO:0001819 synonymous_variant L42611 CCDS8829.1 12q13.13 2013-01-16 2006-07-17 2006-07-17 ENSG00000170465 ENSG00000170465 286887 -, Intermediate filaments type II, keratins (basic) 20406 protein-coding gene gene with protein product 612315 keratin 6E KRT6E NA 7543104, 16831889 Standard NM_173086 NM_173086 NA Approved uc001sal.4 P48668 OTTHUMG00000169596 ENST00000252250.6:c.687C>G chr12.hg19:g.52865918G>C NA A1L4L5|P48666|Q2TAZ9|Q7RTN9 hg19 CCDS8829.1 0.02 7.351263 CCCxACG COVERED NOVEL KRT6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404976.1 2 4.55126 KEEP 3 1 37 28 972 GG 0.999997 0.999997 0 - 8 57 315 0 0 20.841557 186 60 6673 275 ENST00000252250.6 0.041237 1 KRT6A 3853 __UNKNOWN__ __UNKNOWN__ 12 52885019 52885019 __UNKNOWN__ Intron SNP C C T rs298121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52885019C>T ENST00000330722.6 - 3 824 NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A NA NA cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634) structural constituent of cytoskeleton (GO:0005200) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GAAAAGCAGCCTGGGATTCAA 0.443 NA c||| 1255 0.250599 0.025 0.2651 5008 , , NA 19700 0.4841 NA 0.3618 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 94 52 65 NA NA 12 NA 52885019 692 1591 2283 SO:0001627 intron_variant BC014152, L42593, L42610 CCDS41786.1 12q13.13 2013-01-16 ENSG00000205420 ENSG00000205420 3853 -, Intermediate filaments type II, keratins (basic) 6443 protein-coding gene gene with protein product 148041 keratin 6C, keratin 6D KRT6C, KRT6D NA 1713141, 16831889 Standard NM_005554 NM_005554 NA Approved CK6C, K6C, CK6D, K6D uc001sam.3 P02538 OTTHUMG00000169597 ENST00000330722.6:c.756-63G>A chr12.hg19:g.52885019C>T NA A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4 hg19 CCDS41786.1 0.02 21.738555 AGCxTGG COVERED NOVEL KRT6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404978.2 2 10.269367 KEEP 0 1 34 46 1650 CC 1 1 0 - 25 60 914 0 0 61.067229 448 60 16935 683 ENST00000330722.6 0.052854 1 KRT6A 3853 __UNKNOWN__ __UNKNOWN__ 12 52885201 52885201 __UNKNOWN__ Intron SNP C C T rs298122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52885201C>T ENST00000330722.6 - 2 824 NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A NA NA cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284) extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634) structural constituent of cytoskeleton (GO:0005200) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TTCATTTCCACGGACATGGGT 0.463 NA t||| 1254 0.250399 0.0242 0.2651 5008 , , NA 20582 0.4841 NA 0.3618 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014152, L42593, L42610 CCDS41786.1 12q13.13 2013-01-16 ENSG00000205420 ENSG00000205420 3853 -, Intermediate filaments type II, keratins (basic) 6443 protein-coding gene gene with protein product 148041 keratin 6C, keratin 6D KRT6C, KRT6D NA 1713141, 16831889 Standard NM_005554 NM_005554 NA Approved CK6C, K6C, CK6D, K6D uc001sam.3 P02538 OTTHUMG00000169597 ENST00000330722.6:c.755+104G>A chr12.hg19:g.52885201C>T NA A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4 hg19 CCDS41786.1 0.02 6.869385 CCAxGGA COVERED NOVEL KRT6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404978.2 0 3.911862 KEEP 0 0 0 13 429 CC 0.994391 0.994391 0 - 18 60 667 0 0 49.307283 175 60 6187 220 ENST00000330722.6 0.093264 1 KRT74 121391 __UNKNOWN__ __UNKNOWN__ 12 52966390 52966390 __UNKNOWN__ Missense_Mutation SNP A A T rs11170176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52966390A>T ENST00000305620.2 - 2 580 c.533T>A c.(532-534)cTg>cAg p.L178Q KRT74_ENST00000549343.1_Missense_Mutation_p.L178Q NM_175053.3 NP_778223.2 Q7RTS7 K2C74_HUMAN keratin 74 178 Linker 1.|Rod. NA L -> Q (in dbSNP:rs11170176). intermediate filament cytoskeleton organization (GO:0045104) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GTTCAGGTCCAGCTGCTGCAG 0.557 NA A||| 1108 0.221246 0.2761 0.098 5008 , , NA 20769 0.376 NA 0.1193 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 A GLN/LEU 1196,3210 417.4+/-337.9 170,856,1177 129 118 122 533 4.7 1 12 dbSNP_120 122 1086,7514 227.1+/-262.6 68,950,3282 no missense KRT74 NM_175053.3 113 238,1806,4459 TT,TA,AA 12.6279,27.1448,17.5457 benign 178/530 52966390 2282,10724 2203 4300 6503 SO:0001583 missense BK000977 CCDS8832.1 12q13.13 2013-06-25 ENSG00000170484 ENSG00000170484 121391 -, Intermediate filaments type II, keratins (basic) 28929 protein-coding gene gene with protein product 608248 NA 12648212, 16831889 Standard NM_175053 NM_175053 NA Approved K6IRS4, KRT5C, KRT6IRS4 uc001sap.1 Q7RTS7 OTTHUMG00000169658 ENST00000305620.2:c.533T>A chr12.hg19:g.52966390A>T ENSP00000307240:p.Leu178Gln NA B5MD61|Q86Y45 hg19 CCDS8832.1 0.02 9.08769 TCCxGCT COVERED 456 0.2087912087912088 126 0.25609756097560976 42 0.11602209944751381 189 0.3304195804195804 99 0.13060686015831136 A 15.55 2.865720 0.51588 0.271448 0.126279 ENSG00000170484 ENST00000549343;ENST00000305620 D;D 0.87491 -2.26;-2.26 4.71 4.71 0.59529 Filament (1); 0.324202 0.17383 N 0.176247 T 0.00012 0.0000 N 0.00113 -2.09 0.29642 P 0.844674 P 0.40578 0.722 P 0.46452 0.517 T 0.48547 -0.9026 9 0.02654 T 1 . 5.812 0.18471 0.6142:0.1334:0.0:0.2524 rs11170176 178 Q7RTS7 K2C74_HUMAN Q 178 ENSP00000447447:L178Q;ENSP00000307240:L178Q ENSP00000307240:L178Q L - 2 0 KRT74 51252657 0.974000 0.33945 1.000000 0.80357 0.981000 0.71138 2.808000 0.47963 2.066000 0.61787 0.528000 0.53228 CTG NOVEL KRT74-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405324.1 1 5.69259 KEEP 0 0 0 19 564 AA 0.99986 0.99986 0 - 8 60 280 0 0 17.237166 193 60 7095 245 ENST00000305620.2 0.039801 1 KRT74 121391 __UNKNOWN__ __UNKNOWN__ 12 52966428 52966428 __UNKNOWN__ Missense_Mutation SNP G G C rs11170177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52966428G>C ENST00000305620.2 - 2 542 c.495C>G c.(493-495)aaC>aaG p.N165K KRT74_ENST00000549343.1_Missense_Mutation_p.N165K NM_175053.3 NP_778223.2 Q7RTS7 K2C74_HUMAN keratin 74 165 Coil 1A.|Rod. NA N -> K (in dbSNP:rs11170177). intermediate filament cytoskeleton organization (GO:0045104) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198) kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) CTAGAACCTGGTTCTGCTGCT 0.552 NA G||| 489 0.0976438 0.0053 0.0259 5008 , , NA 21114 0.3175 NA 0.0517 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G LYS/ASN 60,4346 58.1+/-94.6 1,58,2144 98 89 92 495 3.8 1 12 dbSNP_120 92 472,8128 139.0+/-195.8 12,448,3840 yes missense KRT74 NM_175053.3 94 13,506,5984 CC,CG,GG 5.4884,1.3618,4.0904 probably-damaging 165/530 52966428 532,12474 2203 4300 6503 SO:0001583 missense BK000977 CCDS8832.1 12q13.13 2013-06-25 ENSG00000170484 ENSG00000170484 121391 -, Intermediate filaments type II, keratins (basic) 28929 protein-coding gene gene with protein product 608248 NA 12648212, 16831889 Standard NM_175053 NM_175053 NA Approved K6IRS4, KRT5C, KRT6IRS4 uc001sap.1 Q7RTS7 OTTHUMG00000169658 ENST00000305620.2:c.495C>G chr12.hg19:g.52966428G>C ENSP00000307240:p.Asn165Lys NA B5MD61|Q86Y45 hg19 CCDS8832.1 0.02 6.960673 CTGxTTC COVERED 227 0.10393772893772894 1 0.0020325203252032522 8 0.022099447513812154 172 0.3006993006993007 46 0.06068601583113457 G 22.6 4.306532 0.81247 0.013618 0.054884 ENSG00000170484 ENST00000549343;ENST00000305620 D;D 0.97959 -4.63;-4.63 4.71 3.82 0.43975 Filament (1); 0.000000 0.38663 N 0.001605 T 0.00468 0.0015 H 0.99783 4.775 0.20873 P 0.999830008 D 0.89917 1.0 D 0.97110 1.0 T 0.00000 -1.8587 9 0.87932 D 0 . 13.466 0.61254 0.0771:0.0:0.9229:0.0 rs11170177 165 Q7RTS7 K2C74_HUMAN K 165 ENSP00000447447:N165K;ENSP00000307240:N165K ENSP00000307240:N165K N - 3 2 KRT74 51252695 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 6.695000 0.74593 1.297000 0.44761 0.650000 0.86243 AAC NOVEL KRT74-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405324.1 1 5.417915 KEEP 0 0 0 18 661 GG 0.999859 0.999859 0 - 6 60 222 0 0 13.45014 188 60 6903 250 ENST00000305620.2 0.030928 1 KRT72 140807 __UNKNOWN__ __UNKNOWN__ 12 52994955 52994955 __UNKNOWN__ Silent SNP G G A rs61747192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:52994955G>A ENST00000537672.2 - 1 292 c.282C>T c.(280-282)ccC>ccT p.P94P KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Silent_p.P94P|KRT72_ENST00000354310.4_Silent_p.P94P NM_001146225.1 NP_001139697.1 Q14CN4 K2C72_HUMAN keratin 72 94 Gly-rich.|Head. NA extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GGATGCCCCCGGGTGGGCACA 0.746 NA G||| 876 0.17492 0.0862 0.0879 5008 , , NA 14031 0.4444 NA 0.1223 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 G ,, 506,3900 229.8+/-244.2 34,438,1731 35 36 36 282,282,282 -8.3 0.1 12 dbSNP_131 36 1080,7520 223.3+/-260.1 68,944,3288 no coding-synonymous,coding-synonymous,coding-synonymous KRT72 NM_001146225.1,NM_001146226.1,NM_080747.2 ,, 102,1382,5019 AA,AG,GG 12.5581,11.4843,12.1944 ,, 94/512,94/470,94/512 52994955 1586,11420 2203 4300 6503 SO:0001819 synonymous_variant AY033495 CCDS8833.1, CCDS53795.1 12q13.13 2013-06-25 ENSG00000170486 ENSG00000170486 140807 -, Intermediate filaments type II, keratins (basic) 28932 protein-coding gene gene with protein product 608246 NA 12648212, 11703281, 16831889 Standard NM_080747 NM_080747 NA Approved K6IRS2, KRT6IRS2, KRT6, K6irs uc001saq.2 Q14CN4 OTTHUMG00000169744 ENST00000537672.2:c.282C>T chr12.hg19:g.52994955G>A NA B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0 hg19 CCDS8833.1 0.02 11.365734 CCCxGGT COVERED 424 0.19413919413919414 42 0.08536585365853659 33 0.09116022099447514 254 0.44405594405594406 95 0.12532981530343007 G 13.71 2.316979 0.40996 0.114843 0.125581 ENSG00000170486 ENST00000549979 . . . 4.49 -8.29 0.01009 . 0.000000 0.52532 D 0.000075 T 0.00012 0.0000 . . . 0.22446 P 0.999095179 . . . . . . T 0.28038 -1.0056 4 . . . . 3.2959 0.06966 0.2814:0.4304:0.1238:0.1645 . . . . L 80 . . P - 2 0 KRT72 51281222 0.000000 0.05858 0.051000 0.19133 0.895000 0.52256 -7.169000 0.00042 -1.814000 0.01224 -0.311000 0.09066 CCG NOVEL KRT72-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405693.1 0 12.338643 KEEP 0 0 0 41 1421 GG 1 1 0 - 17 60 636 0 0 43.830318 265 60 9542 416 ENST00000537672.2 0.060284 1 KRT73 319101 __UNKNOWN__ __UNKNOWN__ 12 53004694 53004694 __UNKNOWN__ Intron SNP T T C rs9739031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53004694T>C ENST00000305748.3 - 7 1145 RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 NA NA extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CTCTCAATGGTTGAGCCCTCC 0.612 NA T||| 1033 0.20627 0.0946 0.1398 5008 , , NA 16294 0.5169 NA 0.1272 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ508776 CCDS8834.1 12q13.13 2013-06-25 ENSG00000186049 ENSG00000186049 319101 -, Intermediate filaments type II, keratins (basic) 28928 protein-coding gene gene with protein product 608247 NA 12648212, 16831889 Standard NM_175068 NM_175068 NA Approved KRT6IRS3, K6IRS3 uc001sas.3 Q86Y46 OTTHUMG00000169746 ENST00000305748.3:c.1111-75A>G chr12.hg19:g.53004694T>C NA Q32MB2 hg19 CCDS8834.1 0.02 4.713466 TGGxTGA COVERED NOVEL KRT73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405700.1 0 2.407642 KEEP 0 0 0 8 266 TT 0.99257 0.992569 0 - 9 60 320 0 0 22.388018 112 60 3961 144 ENST00000305748.3 0.07438 0.999999 KRT73 319101 __UNKNOWN__ __UNKNOWN__ 12 53011955 53011955 __UNKNOWN__ Silent SNP G G A rs61736102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53011955G>A ENST00000305748.3 - 1 388 c.354C>T c.(352-354)aaC>aaT p.N118N NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 118 Head. NA extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634) structural molecule activity (GO:0005198) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CCAGCTCCACGTTCAGGGGTG 0.592 NA G||| 1004 0.200479 0.152 0.1023 5008 , , NA 16598 0.4454 NA 0.1471 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 G 675,3731 285.2+/-278.0 54,567,1582 124 125 125 354 -1.9 1 12 dbSNP_129 125 1284,7316 254.1+/-279.5 96,1092,3112 no coding-synonymous KRT73 NM_175068.2 150,1659,4694 AA,AG,GG 14.9302,15.32,15.0623 118/541 53011955 1959,11047 2203 4300 6503 SO:0001819 synonymous_variant AJ508776 CCDS8834.1 12q13.13 2013-06-25 ENSG00000186049 ENSG00000186049 319101 -, Intermediate filaments type II, keratins (basic) 28928 protein-coding gene gene with protein product 608247 NA 12648212, 16831889 Standard NM_175068 NM_175068 NA Approved KRT6IRS3, K6IRS3 uc001sas.3 Q86Y46 OTTHUMG00000169746 ENST00000305748.3:c.354C>T chr12.hg19:g.53011955G>A NA Q32MB2 hg19 CCDS8834.1 0.02 18.929371 CACxTTC COVERED NOVEL KRT73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405700.1 5 14.145251 KEEP 0 0 0 47 1619 GG 1 1 0 - 26 60 988 0 0 68.596603 404 60 13792 584 ENST00000305748.3 0.060465 1 KRT76 51350 __UNKNOWN__ __UNKNOWN__ 12 53162182 53162182 __UNKNOWN__ 3'UTR SNP A A T rs2280482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53162182A>T ENST00000332411.2 - 0 2285 NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 NA NA cytoskeleton organization (GO:0007010) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634) structural molecule activity (GO:0005198) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCAGTAAGAAAGGGAGATGGG 0.567 NA A||| 1561 0.311701 0.1324 0.3357 5008 , , NA 19768 0.3889 NA 0.4831 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M99063 CCDS8838.1 12q13.13 2013-06-25 ENSG00000185069 ENSG00000185069 51350 -, Intermediate filaments type II, keratins (basic) 24430 protein-coding gene gene with protein product NA 1282112, 16831889 Standard NM_015848 NM_015848 NA Approved HUMCYT2A, KRT2B, KRT2P uc001sax.3 Q01546 OTTHUMG00000169797 ENST00000332411.2:c.*315T>A chr12.hg19:g.53162182A>T NA B4DRR3|Q7Z795 hg19 CCDS8838.1 0.02 4.570225 GAAxGGG COVERED NOVEL KRT76-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405928.1 1 2.708433 KEEP 0 0 0 9 295 AA 0.99254 0.99254 0 - 5 60 192 0 0 12.454619 121 60 4393 156 ENST00000332411.2 0.039683 1 KRT76 51350 __UNKNOWN__ __UNKNOWN__ 12 53162206 53162206 __UNKNOWN__ 3'UTR SNP A A C rs2280481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53162206A>C ENST00000332411.2 - 0 2261 NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 NA NA cytoskeleton organization (GO:0007010) extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634) structural molecule activity (GO:0005198) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGGGAACAGGCCAGGCTG 0.562 NA A||| 1557 0.310903 0.1331 0.3343 5008 , , NA 19737 0.3889 NA 0.4831 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M99063 CCDS8838.1 12q13.13 2013-06-25 ENSG00000185069 ENSG00000185069 51350 -, Intermediate filaments type II, keratins (basic) 24430 protein-coding gene gene with protein product NA 1282112, 16831889 Standard NM_015848 NM_015848 NA Approved HUMCYT2A, KRT2B, KRT2P uc001sax.3 Q01546 OTTHUMG00000169797 ENST00000332411.2:c.*291T>G chr12.hg19:g.53162206A>C NA B4DRR3|Q7Z795 hg19 CCDS8838.1 0.02 3.74841 AACxGGC COVERED NOVEL KRT76-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405928.1 1 3.610915 KEEP 0 0 0 12 375 AA 0.993634 0.993634 0 - 6 60 210 0 0 13.11199 134 60 4868 172 ENST00000332411.2 0.042857 1 KRT78 196374 __UNKNOWN__ __UNKNOWN__ 12 53238347 53238347 __UNKNOWN__ Missense_Mutation SNP G G A rs61764062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53238347G>A ENST00000304620.4 - 5 980 c.917C>T c.(916-918)aCc>aTc p.T306I KRT78_ENST00000359499.4_Missense_Mutation_p.T196I NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 306 Coil 2.|Rod. NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CACCACCTTGGTCTGGTACAA 0.612 NA G||| 307 0.0613019 0.0061 0.1383 5008 , , NA 20199 0.1081 NA 0.0388 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 G ILE/THR 47,4359 49.6+/-84.7 0,47,2156 117 91 100 917 -2.2 1 12 dbSNP_129 100 350,8250 118.8+/-178.2 7,336,3957 yes missense KRT78 NM_173352.2 89 7,383,6113 AA,AG,GG 4.0698,1.0667,3.0524 possibly-damaging 306/521 53238347 397,12609 2203 4300 6503 SO:0001583 missense AK096419 CCDS8840.1, CCDS73473.1 12q13.13 2013-06-25 ENSG00000170423 ENSG00000170423 196374 -, Intermediate filaments type II, keratins (basic) 28926 protein-coding gene gene with protein product 611159 NA 16831889 Standard NM_173352 XM_005268695 NA Approved K5B uc001sbc.1 Q8N1N4 OTTHUMG00000169880 ENST00000304620.4:c.917C>T chr12.hg19:g.53238347G>A ENSP00000306261:p.Thr306Ile NA A8K4D6|Q5HYM7|Q7RTT2 hg19 CCDS8840.1 0.02 11.202021 TTGxTCT COVERED 133 0.060897435897435896 2 0.0040650406504065045 39 0.10773480662983426 64 0.11188811188811189 28 0.036939313984168866 G 9.846 1.192301 0.21954 0.010667 0.040698 ENSG00000170423 ENST00000359499;ENST00000304620;ENST00000539860 D;D 0.86297 -2.1;-2.1 5.07 -2.15 0.07102 Filament (1); . . . . T 0.06735 0.0172 L 0.39147 1.195 0.21105 N 0.999781 P 0.41947 0.766 B 0.41860 0.368 T 0.41288 -0.9517 9 0.41790 T 0.15 . 3.8059 0.08777 0.1615:0.4644:0.2503:0.1238 rs61764062 306 Q8N1N4 K2C78_HUMAN I 196;306;77 ENSP00000352479:T196I;ENSP00000306261:T306I ENSP00000306261:T306I T - 2 0 KRT78 51524614 0.000000 0.05858 0.974000 0.42286 0.047000 0.14425 -1.110000 0.03306 -0.269000 0.09298 -0.253000 0.11424 ACC NOVEL KRT78-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406380.1 1 8.701894 KEEP 0 0 0 29 993 GG 0.999997 0.999997 0 - 11 60 396 0 0 25.174417 244 60 9057 375 ENST00000304620.4 0.043137 1 KRT78 196374 __UNKNOWN__ __UNKNOWN__ 12 53240584 53240584 __UNKNOWN__ Silent SNP A A G rs2682342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53240584A>G ENST00000304620.4 - 3 687 c.624T>C c.(622-624)cgT>cgC p.R208R KRT78_ENST00000359499.4_Silent_p.R98R NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 208 Coil 1B.|Rod. NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAAGTGTGGCACGCCTGTGGG 0.567 NA G||| 1564 0.3123 0.6331 0.2421 5008 , , NA 19681 0.3393 NA 0.0934 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 G 2377,2029 562.8+/-381.0 642,1093,468 88 64 72 624 -4.8 0 12 dbSNP_100 72 850,7750 779.8+/-407.7 39,772,3489 no coding-synonymous KRT78 NM_173352.2 681,1865,3957 GG,GA,AA 9.8837,46.0508,24.8116 208/521 53240584 3227,9779 2203 4300 6503 SO:0001819 synonymous_variant AK096419 CCDS8840.1, CCDS73473.1 12q13.13 2013-06-25 ENSG00000170423 ENSG00000170423 196374 -, Intermediate filaments type II, keratins (basic) 28926 protein-coding gene gene with protein product 611159 NA 16831889 Standard NM_173352 XM_005268695 NA Approved K5B uc001sbc.1 Q8N1N4 OTTHUMG00000169880 ENST00000304620.4:c.624T>C chr12.hg19:g.53240584A>G NA A8K4D6|Q5HYM7|Q7RTT2 hg19 CCDS8840.1 0.02 4.177286 GGCxCGC COVERED NOVEL KRT78-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406380.1 1 7.521859 KEEP 0 0 0 25 764 AA 0.999931 0.999931 0 - 5 60 176 0 0 10.503326 143 60 5167 211 ENST00000304620.4 0.033784 1 KRT78 196374 __UNKNOWN__ __UNKNOWN__ 12 53242579 53242579 __UNKNOWN__ Missense_Mutation SNP C C T rs2253798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53242579C>T ENST00000304620.4 - 1 199 c.136G>A c.(136-138)Ggg>Agg p.G46R NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 46 Gly-rich.|Head. NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095) structural molecule activity (GO:0005198) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TCCAGGCACCCCCCAAAGGAA 0.677 NA C||| 498 0.0994409 0.084 0.2017 5008 , , NA 11846 0.1081 NA 0.0795 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 C ARG/GLY 334,4070 10,314,1878 19 21 21 136 4.2 0.2 12 dbSNP_100 21 736,7864 31,674,3595 yes missense KRT78 NM_173352.2 125 41,988,5473 TT,TC,CC 8.5581,7.584,8.2282 probably-damaging 46/521 53242579 1070,11934 2202 4300 6502 SO:0001583 missense AK096419 CCDS8840.1, CCDS73473.1 12q13.13 2013-06-25 ENSG00000170423 ENSG00000170423 196374 -, Intermediate filaments type II, keratins (basic) 28926 protein-coding gene gene with protein product 611159 NA 16831889 Standard NM_173352 XM_005268695 NA Approved K5B uc001sbc.1 Q8N1N4 OTTHUMG00000169880 ENST00000304620.4:c.136G>A chr12.hg19:g.53242579C>T ENSP00000306261:p.Gly46Arg NA A8K4D6|Q5HYM7|Q7RTT2 hg19 CCDS8840.1 0.02 3.610987 ACCxCCC COVERED 227 0.10393772893772894 43 0.08739837398373984 63 0.17403314917127072 63 0.11013986013986014 58 0.07651715039577836 C 24.4 4.528465 0.85706 0.07584 0.085581 ENSG00000170423 ENST00000304620 T 0.81163 -1.46 5.14 4.23 0.50019 . . . . . T 0.00695 0.0023 M 0.68593 2.085 0.58432 P 1.0000000000287557E-6 B 0.24882 0.113 B 0.29353 0.101 T 0.49437 -0.8940 8 0.72032 D 0.01 . 11.8851 0.52598 0.0:0.9124:0.0:0.0876 rs2253798 46 Q8N1N4 K2C78_HUMAN R 46 ENSP00000306261:G46R ENSP00000306261:G46R G - 1 0 KRT78 51528846 0.000000 0.05858 0.170000 0.22879 0.726000 0.41606 -0.753000 0.04792 1.282000 0.44496 0.485000 0.47835 GGG NOVEL KRT78-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406380.1 0 6.621162 KEEP 0 0 0 22 749 CC 0.999879 0.999879 0 - 5 60 170 0 0 10.14131 128 60 4601 188 ENST00000304620.4 0.037594 1 KRT8 3856 __UNKNOWN__ __UNKNOWN__ 12 53343493 53343493 __UNKNOWN__ 5'UTR SNP G G A rs1492241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53343493G>A ENST00000552551.1 - 0 133 KRT18_ENST00000550600.1_Intron|KRT8_ENST00000546897.1_Intron|KRT8_ENST00000549198.1_Intron|KRT18_ENST00000388835.3_Intron|KRT18_ENST00000388837.2_Intron P05787 K2C8_HUMAN keratin 8 NA NA cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032) cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018) scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198) endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Tenecteplase(DB00031) AGGGGGTTGGGCATACCTGGA 0.582 NA G||| 628 0.125399 0.1823 0.0418 5008 , , NA 18176 0.2282 NA 0.0417 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC000654 CCDS8841.1, CCDS58234.1 12q13.13 2013-01-16 ENSG00000170421 ENSG00000170421 3856 -, Intermediate filaments type II, keratins (basic) 6446 protein-coding gene gene with protein product 148060 NA 2434381, 1705144, 16831889 Standard NM_002273 NM_002273 NA Approved CARD2, K8, CK8, CYK8, K2C8, KO uc009zmk.1 P05787 OTTHUMG00000169881 ENST00000552551.1:c.-300C>T chr12.hg19:g.53343493G>A NA A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60 hg19 CCDS8841.1 0.02 19.577174 TGGxCAT COVERED NOVEL KRT8-001 KNOWN alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406385.1 0 15.920432 KEEP 0 2 54 72 2619 GG 1 1 0 - 20 60 723 0 0 45.961723 449 70 16769 670 ENST00000552551.1 0.042644 1 EIF4B 1975 __UNKNOWN__ __UNKNOWN__ 12 53432107 53432107 __UNKNOWN__ Intron SNP A A G rs55927246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53432107A>G ENST00000420463.3 + 12 1563 EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000262056.9_Intron P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CCCTGAAACAACTGATGAATG 0.403 NA A||| 538 0.107428 0.0068 0.1888 5008 , , NA 19571 0.1518 NA 0.1829 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 A 164,3570 6,152,1709 120 109 113 -0.7 0 12 dbSNP_129 113 1623,6603 141,1341,2631 no intron EIF4B NM_001417.4 147,1493,4340 GG,GA,AA 19.7301,4.3921,14.9415 53432107 1787,10173 1867 4113 5980 SO:0001627 intron_variant X55733 CCDS41788.1, CCDS73474.1 12q13.13 2013-02-12 ENSG00000063046 ENSG00000063046 1975 RNA binding motif (RRM) containing 3285 protein-coding gene gene with protein product 603928 NA Standard NM_001417 XM_005268709 NA Approved uc001sbh.4 P23588 OTTHUMG00000169570 ENST00000420463.3:c.1536-33A>G chr12.hg19:g.53432107A>G NA Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5 hg19 0.02 2.172058 ACAxCTG COVERED NOVEL EIF4B-007 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000404914.1 0 7.222007 KEEP 0 0 0 24 766 AA 0.999909 0.999804 0 + 5 60 195 0 0 13.429348 88 60 3102 125 ENST00000420463.3 0.053763 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 53473298 53473298 __UNKNOWN__ IGR SNP G G T rs3814774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53473298G>T NA NA SPRYD3 (94 upstream) : IGFBP6 (17921 downstream) NA NA NA GGTGTGGGGCGCGGCCCGGTG 0.711 NA G||| 561 0.112021 0.0318 0.245 5008 , , NA 11735 0.1746 NA 0.0596 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.53473298G>T NA hg19 0.02 3.756528 GGCxCGG COVERED NOVEL 0 1 23.71049 KEEP 0 0 0 79 2686 GG 1 0.999984 0 5 60 174 0 0 11.060118 100 60 3585 207 0.047619 0.999984 SOAT2 8435 __UNKNOWN__ __UNKNOWN__ 12 53497927 53497927 __UNKNOWN__ Intron SNP C C G rs17123210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53497927C>G ENST00000301466.3 + 2 142 NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379) brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746) endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 Hesperetin(DB01094) TTTGATCCCTCCTCACAGGAA 0.557 NA C||| 632 0.126198 0.1293 0.1484 5008 , , NA 17806 0.1518 NA 0.0686 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 C 492,3914 229.8+/-244.2 29,434,1740 99 91 94 3.5 0.5 12 dbSNP_123 94 593,8007 157.7+/-211.4 17,559,3724 no intron SOAT2 NM_003578.3 46,993,5464 GG,GC,CC 6.8953,11.1666,8.3423 53497927 1085,11921 2203 4300 6503 SO:0001627 intron_variant AF059203 CCDS8847.1 12q13.13 2012-09-20 ENSG00000167780 ENSG00000167780 8435 2.3.1.26 11178 protein-coding gene gene with protein product 601311 NA 9756920 Standard NM_003578 NA Approved ACAT2 uc001sbv.3 O75908 OTTHUMG00000169774 ENST00000301466.3:c.83-8C>G chr12.hg19:g.53497927C>G NA F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2 hg19 CCDS8847.1 0.02 18.558788 CCTxCTC COVERED NOVEL SOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405817.1 4 36.115431 KEEP 0 0 0 120 4167 CC 1 1 0 + 12 60 442 0 0 26.235199 426 60 16125 716 ENST00000301466.3 0.027397 1 SOAT2 8435 __UNKNOWN__ __UNKNOWN__ 12 53509933 53509933 __UNKNOWN__ Missense_Mutation SNP C C T rs2272296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53509933C>T ENST00000301466.3 + 7 821 c.761C>T c.(760-762)aCc>aTc p.T254I NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 254 NA T -> I (in dbSNP:rs2272296). {ECO:0000269|PubMed:10846185, ECO:0000269|PubMed:15489334}. cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379) brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746) endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 Hesperetin(DB01094) GTGCCTGGGACCCTTCGTGCC 0.527 NA C||| 1315 0.26258 0.416 0.2061 5008 , , NA 20456 0.3165 NA 0.172 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 C ILE/THR 1546,2860 488.0+/-361.1 274,998,931 154 133 140 761 -2.7 0.8 12 dbSNP_100 140 1327,7273 260.1+/-283.0 109,1109,3082 yes missense SOAT2 NM_003578.3 89 383,2107,4013 TT,TC,CC 15.4302,35.0885,22.0898 benign 254/523 53509933 2873,10133 2203 4300 6503 SO:0001583 missense AF059203 CCDS8847.1 12q13.13 2012-09-20 ENSG00000167780 ENSG00000167780 8435 2.3.1.26 11178 protein-coding gene gene with protein product 601311 NA 9756920 Standard NM_003578 NA Approved ACAT2 uc001sbv.3 O75908 OTTHUMG00000169774 ENST00000301466.3:c.761C>T chr12.hg19:g.53509933C>T ENSP00000301466:p.Thr254Ile NA F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2 hg19 CCDS8847.1 0.02 12.078599 GGAxCCT COVERED 605 0.27701465201465203 197 0.40040650406504064 71 0.19613259668508287 198 0.34615384615384615 139 0.18337730870712401 C 6.504 0.461214 0.12342 0.350885 0.154302 ENSG00000167780 ENST00000301466 T 0.73897 -0.79 4.96 -2.65 0.06095 . 0.359684 0.24978 N 0.034088 T 0.00012 0.0000 N 0.04820 -0.15 0.40954 P 0.015436000000000005 B 0.09022 0.002 B 0.12156 0.007 T 0.35574 -0.9783 9 0.19147 T 0.46 -6.404 11.847 0.52389 0.0:0.3154:0.0:0.6846 rs2272296;rs58899375;rs2272296 254 O75908 SOAT2_HUMAN I 254 ENSP00000301466:T254I ENSP00000301466:T254I T + 2 0 SOAT2 51796200 0.002000 0.14202 0.790000 0.31976 0.963000 0.63663 0.383000 0.20651 -0.384000 0.07845 -0.140000 0.14226 ACC NOVEL SOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405817.1 0 15.420887 KEEP 0 2 65 74 2645 CC 1 1 0 + 11 60 368 0 0 21.256735 313 60 11389 501 ENST00000301466.3 0.033951 1 SOAT2 8435 __UNKNOWN__ __UNKNOWN__ 12 53517820 53517820 __UNKNOWN__ Intron SNP A A C rs2280697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53517820A>C ENST00000301466.3 + 15 1578 NM_003578.3 NP_003569.1 O75908 SOAT2_HUMAN sterol O-acyltransferase 2 NA NA cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379) brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746) endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 18 Hesperetin(DB01094) AGTCACCAGGAATGATCTCAT 0.567 NA A||| 469 0.0936502 0.0129 0.1628 5008 , , NA 22040 0.119 NA 0.1213 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 A 89,4317 74.7+/-112.8 1,87,2115 131 113 119 3.2 0 12 dbSNP_100 119 1048,7552 222.3+/-259.4 47,954,3299 no intron SOAT2 NM_003578.3 48,1041,5414 CC,CA,AA 12.186,2.02,8.7421 53517820 1137,11869 2203 4300 6503 SO:0001627 intron_variant AF059203 CCDS8847.1 12q13.13 2012-09-20 ENSG00000167780 ENSG00000167780 8435 2.3.1.26 11178 protein-coding gene gene with protein product 601311 NA 9756920 Standard NM_003578 NA Approved ACAT2 uc001sbv.3 O75908 OTTHUMG00000169774 ENST00000301466.3:c.1519-37A>C chr12.hg19:g.53517820A>C NA F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2 hg19 CCDS8847.1 0.02 18.642599 AGGxATG COVERED NOVEL SOAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405817.1 1 2.812667 KEEP 0 3 99 44 1389 AA 1 1 0 + 18 60 683 0 0 44.26071 422 60 14995 608 ENST00000301466.3 0.040909 1 ZNF740 283337 __UNKNOWN__ __UNKNOWN__ 12 53574490 53574490 __UNKNOWN__ 5'UTR SNP G G A rs3108403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53574490G>A ENST00000416904.3 + 0 7 CSAD_ENST00000542115.1_Intron|CSAD_ENST00000444623.1_Intron NM_001004304.3 NP_001004304.1 Q8NDX6 ZN740_HUMAN zinc finger protein 740 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) haematopoietic_and_lymphoid_tissue(1)|kidney(2) 3 GGGGAAACGGGCCGGGGTTGG 0.721 NA G||| 635 0.126797 0.1377 0.17 5008 , , NA 9043 0.1002 NA 0.1332 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 1 1 1 NA NA 12 NA 53574490 369 863 1232 SO:0001623 5_prime_UTR_variant BC053557 CCDS44896.1 12q13.13 2013-01-08 ENSG00000139651 283337 Zinc fingers, C2H2-type 27465 protein-coding gene gene with protein product NA Standard NM_001004304 NM_001004304 NA Approved Zfp740 uc001scb.4 Q8NDX6 ENST00000416904.3:c.-439G>A chr12.hg19:g.53574490G>A NA A8K9M9 hg19 CCDS44896.1 0.02 3.441179 CGGxCCG COVERED NOVEL ZNF740-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406890.2 2 36.71375 KEEP 0 0 0 122 4233 GG 1 1 0 + 5 60 169 0 0 9.911942 136 60 4991 324 ENST00000416904.3 0.035461 1 ZNF740 283337 __UNKNOWN__ __UNKNOWN__ 12 53581376 53581376 __UNKNOWN__ 3'UTR SNP C C T rs3101059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53581376C>T ENST00000416904.3 + 0 1029 NM_001004304.3 NP_001004304.1 Q8NDX6 ZN740_HUMAN zinc finger protein 740 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) haematopoietic_and_lymphoid_tissue(1)|kidney(2) 3 TCTCTATAGGCGCAAGGGGCC 0.572 NA C||| 469 0.0936502 0.0159 0.1614 5008 , , NA 18031 0.1012 NA 0.1332 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 C 91,3647 1,89,1779 46 49 48 1.6 1 12 dbSNP_103 48 1105,7067 63,979,3044 no utr-3 ZNF740 NM_001004304.3 64,1068,4823 TT,TC,CC 13.5218,2.4345,10.042 53581376 1196,10714 1869 4086 5955 SO:0001624 3_prime_UTR_variant BC053557 CCDS44896.1 12q13.13 2013-01-08 ENSG00000139651 283337 Zinc fingers, C2H2-type 27465 protein-coding gene gene with protein product NA Standard NM_001004304 NM_001004304 NA Approved Zfp740 uc001scb.4 Q8NDX6 ENST00000416904.3:c.*2C>T chr12.hg19:g.53581376C>T NA A8K9M9 hg19 CCDS44896.1 0.02 19.491876 AGGxGCA COVERED NOVEL ZNF740-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406890.2 2 32.338183 KEEP 0 1 33 119 4144 CC 1 1 0 + 16 60 569 0 0 34.182559 461 60 15898 741 ENST00000416904.3 0.033543 1 ESPL1 9700 __UNKNOWN__ __UNKNOWN__ 12 53682326 53682326 __UNKNOWN__ Silent SNP G G A rs1110720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53682326G>A ENST00000257934.4 + 20 4642 c.4551G>A c.(4549-4551)ggG>ggA p.G1517G ESPL1_ENST00000552462.1_Silent_p.G1517G NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1517 NA apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842) centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634) catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 CCCCAGGTGGGAAGACTCCAG 0.567 NA OREG0021863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 3232 0.645367 0.4327 0.6326 5008 , , NA 17084 0.8204 NA 0.6382 False NA ,,, NA NA NA 2504 0.7689 NA NA NA Colon(53;1069 1201 2587 5382) NA 0 G 1951,2455 420,1111,672 27 26 26 4551 3 0.8 12 dbSNP_86 26 5464,3134 1747,1970,582 no coding-synonymous ESPL1 NM_012291.4 2167,3081,1254 AA,AG,GG 36.4503,44.2805,42.9791 1517/2121 53682326 7415,5589 2203 4299 6502 SO:0001819 synonymous_variant D79987 CCDS8852.1 12q13.13 2014-08-04 2013-05-03 ENSG00000135476 ENSG00000135476 9700 3.4.22.49 16856 protein-coding gene gene with protein product separin, separase, separin, cysteine protease 604143 extra spindle poles like 1 (S. cerevisiae) NA 8724849, 16258266 Standard NM_012291 NM_012291 NA Approved KIAA0165, ESP1, SEPA uc001sck.2 Q14674 OTTHUMG00000169674 ENST00000257934.4:c.4551G>A chr12.hg19:g.53682326G>A 994 hg19 CCDS8852.1 0.02 7.955444 TGGxAAG COVERED NOVEL ESPL1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406899.2 2 5.621117 KEEP 0 3 95 52 1786 GG 1 1 0 + 11 60 393 0 0 25.935076 194 60 7158 335 ENST00000257934.4 0.053659 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 53687434 53687434 __UNKNOWN__ IGR SNP G G A rs117290723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53687434G>A NA NA ESPL1 (7 upstream) : PFDN5 (1640 downstream) NA NA NA CCTGTTTTGCGTAGTTTATCT 0.358 NA G||| 34 0.00678914 0.0 0.0 5008 , , NA 21867 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.53687434G>A NA hg19 0.02 6.528132 TGCxTAG COVERED NOVEL 0 1 16.552959 KEEP 0 0 0 55 1888 GG 1 1 0 10 60 375 0 0 25.628695 165 60 5804 296 0.057143 1 TARBP2 6895 __UNKNOWN__ __UNKNOWN__ 12 53898056 53898056 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:53898056C>T ENST00000552857.1 + 3 284 TARBP2_ENST00000394357.2_Intron|TARBP2_ENST00000266987.2_Intron|TARBP2_ENST00000456234.2_Intron TAR (HIV-1) RNA binding protein 2 NA NA central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 GGACAGACAGCTCCCCACCCG 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8861.1, CCDS41791.1 12q13.13 2013-09-20 2007-06-26 ENSG00000139546 ENSG00000139546 6895 11569 protein-coding gene gene with protein product 605053 Tar (HIV-1) RNA binding protein 2 NA 2011739 Standard NM_134323 NA Approved uc001sdt.3 Q15633 OTTHUMG00000169855 ENST00000552857.1:c.150-125C>T chr12.hg19:g.53898056C>T NA hg19 0.02 6.063367 CAGxTCC COVERED NOVEL TARBP2-021 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406280.1 1 20.764842 KEEP 0 0 0 69 2464 CC 1 1 0 + 11 60 383 0 0 25.212467 183 60 6750 323 ENST00000552857.1 0.056701 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 54021138 54021138 __UNKNOWN__ IGR SNP T T C rs6580953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54021138T>C NA NA ATF7 (939 upstream) : ATP5G2 (5371 downstream) NA NA NA gtggctcacgtctgtaatccc 0.448 NA C||| 3637 0.726238 0.8759 0.6081 5008 , , NA 15987 0.9583 NA 0.4891 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.54021138T>C NA hg19 0.02 -0.078959 ACGxCTG UNCOVERED NOVEL 0 0 2.407412 KEEP 0 0 0 8 255 TT 0.99257 0.076761 0 2 60 76 0 0 6.483908 7 60 254 25 0.222222 0.077336 ATP5G2 517 __UNKNOWN__ __UNKNOWN__ 12 54066271 54066271 __UNKNOWN__ Intron SNP C C G rs10876480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54066271C>G ENST00000338662.5 - 2 1293 ATP5G2_ENST00000394349.3_Intron|ATP5G2_ENST00000602871.1_Intron|ATP5G2_ENST00000549164.1_Intron NM_001002031.2 NP_001002031.1 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) NA NA ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471) integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263) hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 ctccTCTCCCCCAGCCTTGCT 0.507 NA C||| 1506 0.300719 0.289 0.3674 5008 , , NA 17546 0.375 NA 0.3002 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X69908 CCDS8863.2, CCDS31812.1 12q13.13 2012-10-12 2010-06-11 ENSG00000135390 ENSG00000135390 517 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 842 protein-coding gene gene with protein product 603193 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) NA 8328972 Standard NM_005176 NM_005176 NA Approved uc001sec.3 Q06055 OTTHUMG00000133442 ENST00000338662.5:c.87+88G>C chr12.hg19:g.54066271C>G NA B3KQQ6 hg19 CCDS31812.1 0.02 1.338591 CCCxCAG COVERED NOVEL ATP5G2-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257311.2 1 3.245201 KEEP 0 1 35 23 761 CC 0.999909 0.999849 0 - 7 60 217 0 0 14.130985 90 60 3303 128 ENST00000338662.5 0.072165 0.99994 ATP5G2 517 __UNKNOWN__ __UNKNOWN__ 12 54069803 54069803 __UNKNOWN__ Intron SNP A A G rs916134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54069803A>G ENST00000338662.5 - 1 1223 ATP5G2_ENST00000394349.3_Intron|ATP5G2_ENST00000602871.1_Intron|ATP5G2_ENST00000549164.1_Intron NM_001002031.2 NP_001002031.1 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) NA NA ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471) integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263) hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 GCGCGTGCGCAGCGCACAGAG 0.642 NA OREG0021876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1559 0.311302 0.3071 0.3703 5008 , , NA 18871 0.3988 NA 0.2992 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G , 1260,3146 231,798,1174 24 28 27 , 2.7 1 12 dbSNP_96 27 2520,6080 365,1790,2145 no intron,intron ATP5G2 NM_001002031.2,NM_005176.5 , 596,2588,3319 GG,GA,AA 29.3023,28.5974,29.0635 , , 54069803 3780,9226 2203 4300 6503 SO:0001627 intron_variant X69908 CCDS8863.2, CCDS31812.1 12q13.13 2012-10-12 2010-06-11 ENSG00000135390 ENSG00000135390 517 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 842 protein-coding gene gene with protein product 603193 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) NA 8328972 Standard NM_005176 NM_005176 NA Approved uc001sec.3 Q06055 OTTHUMG00000133442 ENST00000338662.5:c.17+156T>C chr12.hg19:g.54069803A>G 997 B3KQQ6 hg19 CCDS31812.1 0.02 2.119706 CGCxGCG COVERED NOVEL ATP5G2-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257311.2 1 3.543531 KEEP 0 1 29 22 668 AA 0.999892 0.999848 0 - 8 60 268 0 0 18.557541 91 60 3243 130 ENST00000338662.5 0.080808 0.999956 ATP5G2 517 __UNKNOWN__ __UNKNOWN__ 12 54070445 54070445 __UNKNOWN__ 5'UTR SNP A A T rs3892761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54070445A>T ENST00000338662.5 - 0 737 NM_001002031.2 NP_001002031.1 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) NA NA ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471) integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263) hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 AAGCAGCATCAGCGAGCCAGA 0.542 NA OREG0021876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1505 0.300519 0.289 0.3674 5008 , , NA 18108 0.375 NA 0.2992 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X69908 CCDS8863.2, CCDS31812.1 12q13.13 2012-10-12 2010-06-11 ENSG00000135390 ENSG00000135390 517 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 842 protein-coding gene gene with protein product 603193 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) NA 8328972 Standard NM_005176 NM_005176 NA Approved uc001sec.3 Q06055 OTTHUMG00000133442 ENST00000338662.5:c.-469T>A chr12.hg19:g.54070445A>T 997 B3KQQ6 hg19 CCDS31812.1 0.02 6.915245 ATCxGCG COVERED NOVEL ATP5G2-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257311.2 1 28.106766 KEEP 0 1 33 105 3223 AA 1 1 0 - 9 60 329 0 0 22.030546 156 60 5764 333 ENST00000338662.5 0.054545 1 ATP5G2 517 __UNKNOWN__ __UNKNOWN__ 12 54070919 54070919 __UNKNOWN__ 5'UTR SNP T T C rs3809156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54070919T>C ENST00000338662.5 - 0 263 NM_001002031.2 NP_001002031.1 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) NA NA ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471) integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263) hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 AATCCGCCACTCTCTGAGGGG 0.602 NA C||| 3756 0.75 0.9017 0.6254 5008 , , NA 10426 0.9593 NA 0.5368 False NA ,,, NA NA NA 2504 0.637 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X69908 CCDS8863.2, CCDS31812.1 12q13.13 2012-10-12 2010-06-11 ENSG00000135390 ENSG00000135390 517 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 842 protein-coding gene gene with protein product 603193 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9) NA 8328972 Standard NM_005176 NM_005176 NA Approved uc001sec.3 Q06055 OTTHUMG00000133442 ENST00000338662.5:c.-943A>G chr12.hg19:g.54070919T>C NA B3KQQ6 hg19 CCDS31812.1 0.02 2.070484 CACxCTC COVERED NOVEL ATP5G2-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000257311.2 1 31.320515 KEEP 0 1 34 116 3549 TT 1 0.986153 0 - 4 60 143 0 0 9.858735 55 60 2015 223 ENST00000338662.5 0.067797 0.986153 CALCOCO1 57658 __UNKNOWN__ __UNKNOWN__ 12 54108228 54108228 __UNKNOWN__ Intron SNP G G C rs2277368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54108228G>C ENST00000550804.1 - 11 1543 CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Intron|CALCOCO1_ENST00000262059.4_Intron Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 NA NA intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 GAGATCATCCGCTGTCCTGCC 0.502 NA C||| 2503 0.4998 0.6051 0.4452 5008 , , NA 18603 0.5903 NA 0.328 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136895 CCDS8864.1, CCDS44908.1 12q13.13 2014-01-02 ENSG00000012822 ENSG00000012822 57658 29306 protein-coding gene gene with protein product coiled-coil leucine zipper coactivator 1, inorganic pyrophosphatase activator NA 10819331, 11230166 Standard NM_020898 NM_020898 NA Approved KIAA1536, calphoglin, Cocoa uc001sef.3 Q9P1Z2 OTTHUMG00000170095 ENST00000550804.1:c.1482+153C>G chr12.hg19:g.54108228G>C NA B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090 hg19 CCDS8864.1 0.02 -0.359656 TCCxCTG COVERED NOVEL CALCOCO1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407233.2 0 2.708488 KEEP 0 0 0 9 295 GG 0.99254 0.882244 0 - 5 60 187 0 0 14.484364 36 60 1204 55 ENST00000550804.1 0.121951 0.888875 CALCOCO1 57658 __UNKNOWN__ __UNKNOWN__ 12 54110197 54110197 __UNKNOWN__ Silent SNP A A G rs2277369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54110197A>G ENST00000550804.1 - 8 912 c.852T>C c.(850-852)gcT>gcC p.A284A CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000548263.1_Silent_p.A284A|CALCOCO1_ENST00000262059.4_Silent_p.A284A Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 284 NA intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CTTGGAGCTCAGCCTGAGGGA 0.537 NA A||| 541 0.108027 0.0098 0.1239 5008 , , NA 20669 0.2966 NA 0.0239 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 A , 47,4359 47.5+/-82.1 0,47,2156 71 59 63 ,852 1.8 1 12 dbSNP_100 63 176,8424 80.1+/-142.7 0,176,4124 no intron,coding-synonymous CALCOCO1 NM_001143682.1,NM_020898.2 , 0,223,6280 GG,GA,AA 2.0465,1.0667,1.7146 , ,284/692 54110197 223,12783 2203 4300 6503 SO:0001819 synonymous_variant AL136895 CCDS8864.1, CCDS44908.1 12q13.13 2014-01-02 ENSG00000012822 ENSG00000012822 57658 29306 protein-coding gene gene with protein product coiled-coil leucine zipper coactivator 1, inorganic pyrophosphatase activator NA 10819331, 11230166 Standard NM_020898 NM_020898 NA Approved KIAA1536, calphoglin, Cocoa uc001sef.3 Q9P1Z2 OTTHUMG00000170095 ENST00000550804.1:c.852T>C chr12.hg19:g.54110197A>G NA B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090 hg19 CCDS8864.1 0.02 3.388111 CTCxGCC COVERED NOVEL CALCOCO1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407233.2 2 8.426004 KEEP 0 0 0 28 893 AA 0.999997 0.999997 0 - 5 60 169 0 0 9.818361 142 60 5338 220 ENST00000550804.1 0.034014 1 HOXC9 3225 __UNKNOWN__ __UNKNOWN__ 12 54393774 54393774 __UNKNOWN__ Intron SNP G G A rs199695387|rs12817092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54393774G>A ENST00000508190.1 + 2 41 RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_Intron P31274 HXC9_HUMAN homeobox C9 NA NA anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 AGGGGGAAAAGAAGGCAAGGA 0.602 NA -||| 2856 0.570288 0.525 0.5216 5008 , , NA 13330 0.7669 NA 0.5676 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS8869.1 12q13.13 2011-06-20 2005-12-22 ENSG00000180806 3225 Homeoboxes / ANTP class : HOXL subclass 5130 protein-coding gene gene with protein product 142971 homeo box C9 HOX3, HOX3B NA 1973146 Standard NM_006897 NA Approved uc001seq.3 P31274 ENST00000508190.1:c.-57-142G>A chr12.hg19:g.54393774G>A NA B2RCN7|Q9H1I0 hg19 CCDS8869.1 0.02 1.6839 AAAxAAG COVERED NOVEL HOXC9-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358959.1 0 11.436059 KEEP 0 0 0 38 1327 GG 1 0.996233 0 + 4 60 135 1 0 8.80569 64 60 2340 114 ENST00000508190.1 0.058824 0.996233 ITGA5 3678 __UNKNOWN__ __UNKNOWN__ 12 54797571 54797571 __UNKNOWN__ Intron SNP C C G rs12426629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54797571C>G ENST00000293379.4 - 17 1883 RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) NA NA angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313) alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202) metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 AACCTGAAGCCAGGGACATAT 0.557 NA C||| 427 0.0852636 0.003 0.0605 5008 , , NA 19160 0.0754 NA 0.0636 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 C 41,4365 45.3+/-79.5 1,39,2163 75 71 72 1.2 0 12 dbSNP_120 72 376,8224 124.4+/-183.2 12,352,3936 no intron ITGA5 NM_002205.2 13,391,6099 GG,GC,CC 4.3721,0.9305,3.2062 54797571 417,12589 2203 4300 6503 SO:0001627 intron_variant CCDS8880.1 12q11-q13 2010-03-23 ENSG00000161638 3678 CD molecules, Integrins 6141 protein-coding gene gene with protein product 135620 FNRA NA 2454952 Standard NM_002205 NA Approved CD49e uc001sga.3 P08648 OTTHUMG00000169841 ENST00000293379.4:c.1622-8G>C chr12.hg19:g.54797571C>G NA Q96HA5 hg19 CCDS8880.1 0.02 8.128896 AGCxAGG COVERED NOVEL ITGA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406174.1 0 17.756237 KEEP 0 0 0 59 2055 CC 1 1 0 - 7 60 250 0 0 15.078971 199 60 7423 303 ENST00000293379.4 0.033981 1 NCKAP1L 3071 __UNKNOWN__ __UNKNOWN__ 12 54894320 54894320 __UNKNOWN__ Missense_Mutation SNP C C T rs117605527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54894320C>T ENST00000293373.6 + 3 296 c.217C>T c.(217-219)Cat>Tat p.H73Y NCKAP1L_ENST00000545638.2_Missense_Mutation_p.H23Y NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 73 NA actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209) protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CTCTCAGCAACATTTAGGACC 0.358 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 18760 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 144 139 141 NA NA 12 NA 54894320 2203 4300 6503 SO:0001583 missense AI924363 CCDS31813.1, CCDS53799.1 12q13.1 2005-10-11 2005-10-11 2005-10-11 ENSG00000123338 3071 4862 protein-coding gene gene with protein product 141180 hematopoietic protein 1 HEM1 NA 1932118 Standard NM_005337 NM_005337 NA Approved uc001sgc.4 P55160 OTTHUMG00000169843 ENST00000293373.6:c.217C>T chr12.hg19:g.54894320C>T ENSP00000293373:p.His73Tyr NA B4DUT5|Q52LW0 hg19 CCDS31813.1 0.02 19.238551 CAAxATT COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 C 14.16 2.452736 0.43531 . . ENSG00000123338 ENST00000293373;ENST00000545638 T;T 0.30448 1.53;1.53 5.06 5.06 0.68205 . 0.054720 0.64402 D 0.000001 T 0.29458 0.0734 L 0.44542 1.39 0.38715 D 0.953319 P 0.49559 0.925 P 0.49451 0.611 T 0.21211 -1.0252 10 0.59425 D 0.04 -7.4575 16.2894 0.82739 0.0:1.0:0.0:0.0 . 73 P55160 NCKPL_HUMAN Y 73;23 ENSP00000293373:H73Y;ENSP00000445596:H23Y ENSP00000293373:H73Y H + 1 0 NCKAP1L 53180587 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 3.380000 0.52448 2.506000 0.84524 0.460000 0.39030 CAT NOVEL NCKAP1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406195.1 2 10.835818 KEEP 0 0 0 36 1315 CC 0.999999 0.999999 0 + 13 60 465 1 0 26.954595 471 60 17623 598 ENST00000293373.6 0.02686 1 NCKAP1L 3071 __UNKNOWN__ __UNKNOWN__ 12 54925197 54925197 __UNKNOWN__ Intron SNP G G T rs12580728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:54925197G>T ENST00000293373.6 + 23 2683 NCKAP1L_ENST00000545638.2_Intron NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like NA NA actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209) protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 AAGAGGGTGGGTATAGGAGAC 0.473 NA G||| 8 0.00159744 0.0 0.0 5008 , , NA 18090 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AI924363 CCDS31813.1, CCDS53799.1 12q13.1 2005-10-11 2005-10-11 2005-10-11 ENSG00000123338 3071 4862 protein-coding gene gene with protein product 141180 hematopoietic protein 1 HEM1 NA 1932118 Standard NM_005337 NM_005337 NA Approved uc001sgc.4 P55160 OTTHUMG00000169843 ENST00000293373.6:c.2604+56G>T chr12.hg19:g.54925197G>T NA B4DUT5|Q52LW0 hg19 CCDS31813.1 0.02 6.354954 TGGxTAT COVERED NOVEL NCKAP1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406195.1 1 6.320484 KEEP 0 0 0 21 727 GG 0.999869 0.999869 0 + 8 60 291 0 0 18.870932 164 60 5916 221 ENST00000293373.6 0.046512 1 NEUROD4 58158 __UNKNOWN__ __UNKNOWN__ 12 55421250 55421250 __UNKNOWN__ 3'UTR SNP C C T rs2656804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:55421250C>T ENST00000242994.3 + 0 1405 NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 NA NA amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CAGAGAATGACGTGGAGACAT 0.388 NA C||| 2046 0.408546 0.5129 0.4294 5008 , , NA 21461 0.3919 NA 0.2942 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 C 2228,2178 574.6+/-383.8 561,1106,536 146 149 148 -1.8 0 12 dbSNP_100 148 2583,6017 411.0+/-350.3 384,1815,2101 no utr-3 NEUROD4 NM_021191.2 945,2921,2637 TT,TC,CC 30.0349,49.4326,36.9906 55421250 4811,8195 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF203901 CCDS8886.1 12q13.13 2013-05-21 2012-02-22 ENSG00000123307 58158 Basic helix-loop-helix proteins 13802 protein-coding gene gene with protein product 611635 neurogenic differentiation 4 NA Standard NM_021191 NA Approved Atoh3, ATH-3, MATH-3, bHLHa4 uc001sgp.4 Q9HD90 ENST00000242994.3:c.*31C>T chr12.hg19:g.55421250C>T NA B2RAC9 hg19 CCDS8886.1 0.02 17.844143 TGAxGTG COVERED NOVEL NEUROD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406104.1 0 11.135126 KEEP 0 0 0 37 1274 CC 1 1 0 + 18 60 671 0 0 43.063092 422 60 14591 586 ENST00000242994.3 0.040909 1 NEUROD4 58158 __UNKNOWN__ __UNKNOWN__ 12 55421299 55421299 __UNKNOWN__ 3'UTR SNP C C A rs2243885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:55421299C>A ENST00000242994.3 + 0 1454 NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 NA NA amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 GATTCAATGACCTTAAAGGAT 0.373 NA C||| 2046 0.408546 0.5129 0.4294 5008 , , NA 20681 0.3919 NA 0.2942 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF203901 CCDS8886.1 12q13.13 2013-05-21 2012-02-22 ENSG00000123307 58158 Basic helix-loop-helix proteins 13802 protein-coding gene gene with protein product 611635 neurogenic differentiation 4 NA Standard NM_021191 NA Approved Atoh3, ATH-3, MATH-3, bHLHa4 uc001sgp.4 Q9HD90 ENST00000242994.3:c.*80C>A chr12.hg19:g.55421299C>A NA B2RAC9 hg19 CCDS8886.1 0.02 11.849743 TGAxCTT COVERED NOVEL NEUROD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406104.1 1 5.71767 KEEP 0 0 0 19 646 CC 0.99986 0.99986 0 + 13 60 459 0 0 28.5543 304 60 11027 374 ENST00000242994.3 0.041009 1 OR10P1 121130 __UNKNOWN__ __UNKNOWN__ 12 56030938 56030938 __UNKNOWN__ Missense_Mutation SNP C C T rs10876838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56030938C>T ENST00000309675.2 + 1 295 c.263C>T c.(262-264)cCg>cTg p.P88L NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 88 NA P -> L (in dbSNP:rs10876838). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CTGGGCTCCCCGCATCCCCAG 0.602 NA C||| 1355 0.270567 0.0794 0.3919 5008 , , NA 21233 0.2331 NA 0.4901 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 C LEU/PRO 651,3755 280.5+/-275.4 50,551,1602 81 72 75 263 -2.4 0 12 dbSNP_120 75 3947,4653 548.4+/-385.4 917,2113,1270 yes missense OR10P1 NM_206899.1 98 967,2664,2872 TT,TC,CC 45.8953,14.7753,35.3529 benign 88/314 56030938 4598,8408 2203 4300 6503 SO:0001583 missense BK004259 CCDS31828.1 12q13.13 2012-08-09 2004-03-10 ENSG00000175398 121130 GPCR / Class A : Olfactory receptors 15378 protein-coding gene gene with protein product OR10P1P, OR10P2P, OR10P3P NA Standard NM_206899 NA Approved OST701 uc010spq.2 Q8NGE3 OTTHUMG00000169961 ENST00000309675.2:c.263C>T chr12.hg19:g.56030938C>T ENSP00000308082:p.Pro88Leu NA B9EGY4 hg19 CCDS31828.1 0.02 13.434498 CCCxGCA COVERED 698 0.31959706959706957 46 0.09349593495934959 153 0.42265193370165743 135 0.23601398601398602 364 0.48021108179419525 C 1.011 -0.687846 0.03328 0.147753 0.458953 ENSG00000175398 ENST00000309675 T 0.01804 4.63 4.28 -2.44 0.06502 GPCR, rhodopsin-like superfamily (1); 1.960390 0.02595 N 0.100381 T 0.00012 0.0000 L 0.31664 0.95 0.80722 P 0.0 B 0.09022 0.002 B 0.04013 0.001 T 0.39981 -0.9587 9 0.23891 T 0.37 . 1.4625 0.02398 0.1395:0.3924:0.1368:0.3312 rs10876838;rs57481452;rs10876838 88 Q8NGE3 O10P1_HUMAN L 88 ENSP00000308082:P88L ENSP00000308082:P88L P + 2 0 OR10P1 54317205 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.189000 0.09629 -0.552000 0.06167 0.561000 0.74099 CCG NOVEL OR10P1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406680.1 4 3.144092 KEEP 0 1 30 21 711 CC 0.999879 0.999879 0 + 15 60 546 0 0 35.75215 292 60 9881 353 ENST00000309675.2 0.04886 1 OR10P1 121130 __UNKNOWN__ __UNKNOWN__ 12 56031273 56031273 __UNKNOWN__ Missense_Mutation SNP G G A rs7970885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56031273G>A ENST00000309675.2 + 1 630 c.598G>A c.(598-600)Gtg>Atg p.V200M NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 200 NA V -> M (in dbSNP:rs7970885). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.V200M(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CGAGATCTCCGTGATGACAGC 0.542 NA G||| 1358 0.271166 0.09 0.3905 5008 , , NA 20445 0.2331 NA 0.4901 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G MET/VAL 694,3712 291.8+/-281.7 57,580,1566 121 97 106 598 2.5 0 12 dbSNP_116 106 3930,4670 547.8+/-385.2 909,2112,1279 yes missense OR10P1 NM_206899.1 21 966,2692,2845 AA,AG,GG 45.6977,15.7512,35.5528 possibly-damaging 200/314 56031273 4624,8382 2203 4300 6503 SO:0001583 missense BK004259 CCDS31828.1 12q13.13 2012-08-09 2004-03-10 ENSG00000175398 121130 GPCR / Class A : Olfactory receptors 15378 protein-coding gene gene with protein product OR10P1P, OR10P2P, OR10P3P NA Standard NM_206899 NA Approved OST701 uc010spq.2 Q8NGE3 OTTHUMG00000169961 ENST00000309675.2:c.598G>A chr12.hg19:g.56031273G>A ENSP00000308082:p.Val200Met NA B9EGY4 hg19 CCDS31828.1 0.02 27.242084 TCCxTGA COVERED 702 0.32142857142857145 50 0.1016260162601626 153 0.42265193370165743 135 0.23601398601398602 364 0.48021108179419525 G 10.15 1.271097 0.23221 0.157512 0.456977 ENSG00000175398 ENST00000309675 T 0.00169 8.63 4.44 2.52 0.30459 GPCR, rhodopsin-like superfamily (1); 0.838841 0.10054 N 0.721873 T 0.00012 0.0000 N 0.01824 -0.7 0.80722 P 0.0 D 0.71674 0.998 P 0.59595 0.86 T 0.00234 -1.1893 9 0.25751 T 0.34 . 8.5889 0.33674 0.1914:0.0:0.8086:0.0 rs7970885;rs60103698;rs7970885 200 Q8NGE3 O10P1_HUMAN M 200 ENSP00000308082:V200M ENSP00000308082:V200M V + 1 0 OR10P1 54317540 0.000000 0.05858 0.007000 0.13788 0.002000 0.02628 -0.123000 0.10611 1.142000 0.42291 0.561000 0.74099 GTG NOVEL OR10P1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406680.1 4 6.725457 KEEP 0 3 93 55 1897 GG 1 1 0 + 20 60 724 0 0 42.87371 653 60 23112 855 ENST00000309675.2 0.029718 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 56031704 56031704 __UNKNOWN__ IGR SNP T T C rs2555035 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56031704T>C NA NA OR10P1 (66 upstream) : RP11-644F5.16 (991 downstream) NA NA NA ACAGAAATCATGCAGCACCTC 0.473 NA T||| 3730 0.744808 0.5983 0.7262 5008 , , NA 20297 0.8254 NA 0.8221 False NA ,,, NA NA NA 2504 0.7935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.56031704T>C NA hg19 0.02 9.244814 TCAxGCA COVERED NOVEL 0 1 9.362201 KEEP 0 1 31 42 1344 TT 1 1 0 9 60 331 0 0 20.736102 231 60 8552 363 0.0375 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 56075263 56075263 __UNKNOWN__ IGR SNP C C T rs4759187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56075263C>T NA NA RP11-644F5.16 (21684 upstream) : METTL7B (66 downstream) NA NA NA AGCCCCTGCCCCCCTTCAGCT 0.602 NA C||| 1501 0.29972 0.2035 0.3329 5008 , , NA 15259 0.3909 NA 0.2515 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.56075263C>T NA hg19 0.02 1.881075 GCCxCCC COVERED NOVEL 0 0 3.445488 KEEP 0 1 30 22 761 CC 0.999892 0.999773 0 5 60 186 0 0 12.553622 87 60 3080 131 0.054348 0.999881 MMP19 4327 __UNKNOWN__ __UNKNOWN__ 12 56233518 56233518 __UNKNOWN__ Silent SNP G G A rs2291267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56233518G>A ENST00000548629.1 - 5 578 c.459C>T c.(457-459)gtC>gtT p.V153V MMP19_ENST00000322569.4_Silent_p.V176V|MMP19_ENST00000409200.3_Intron Q99542 MMP19_HUMAN matrix metallopeptidase 19 176 NA angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 26 Marimastat(DB00786) CATGGGCCAGGACTCTCCCTG 0.547 NA G||| 487 0.0972444 0.0847 0.1527 5008 , , NA 21490 0.129 NA 0.0527 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 G 373,4033 181.9+/-209.8 13,347,1843 45 34 38 528 -0.1 1 12 dbSNP_100 38 441,8159 129.3+/-187.4 12,417,3871 no coding-synonymous MMP19 NM_002429.4 25,764,5714 AA,AG,GG 5.1279,8.4657,6.2586 176/509 56233518 814,12192 2203 4300 6503 SO:0001819 synonymous_variant X92521 CCDS8895.1, CCDS61146.1 12q14 2005-08-08 2005-08-08 ENSG00000123342 4327 7165 protein-coding gene gene with protein product 601807 matrix metalloproteinase 19 MMP18 NA 9232430 Standard NM_002429 NM_002429 NA Approved RASI-1 uc001sib.4 Q99542 OTTHUMG00000170216 ENST00000548629.1:c.459C>T chr12.hg19:g.56233518G>A NA B4E030|O15278|O95606|Q99580 hg19 0.02 8.254536 CAGxACT COVERED NOVEL MMP19-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409060.1 0 28.883586 KEEP 0 0 0 96 3271 GG 1 1 0 - 7 60 252 0 0 15.30857 197 60 7379 386 ENST00000548629.1 0.034314 1 SUOX 6821 __UNKNOWN__ __UNKNOWN__ 12 56395387 56395387 __UNKNOWN__ 5'UTR SNP G G A rs77330228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56395387G>A ENST00000394109.3 + 0 106 SUOX_ENST00000266971.3_Intron|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000550478.1_Intron|SUOX_ENST00000548274.1_Intron|SUOX_ENST00000394115.2_Intron|SUOX_ENST00000356124.4_Intron P51687 SUOX_HUMAN sulfite oxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096) mitochondrial matrix (GO:0005759) electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GGCtcttcatgttagctctgc 0.453 NA G||| 181 0.0361422 0.0 0.0 5008 , , NA 18687 0.1756 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC065193 CCDS8901.2 12q13.13 2011-02-10 ENSG00000139531 ENSG00000139531 6821 1.8.3.1 11460 protein-coding gene gene with protein product 606887 NA 7599189 Standard NM_000456 XM_005269112 NA Approved uc001siz.3 P51687 OTTHUMG00000128503 ENST00000394109.3:c.-619G>A chr12.hg19:g.56395387G>A NA hg19 CCDS8901.2 0.02 4.602168 CATxTTA COVERED NOVEL SUOX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250309.1 3 12.03914 KEEP 0 0 0 40 1398 GG 1 0.999994 0 + 6 60 230 0 0 15.730164 105 60 3887 179 ENST00000394109.3 0.054054 0.999994 IKZF4 64375 __UNKNOWN__ __UNKNOWN__ 12 56426546 56426546 __UNKNOWN__ Intron SNP G G A rs58014019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56426546G>A ENST00000547791.1 + 5 819 IKZF4_ENST00000431367.2_Intron|IKZF4_ENST00000262032.5_Intron|IKZF4_ENST00000547167.1_Intron|RP11-603J24.4_ENST00000551846.1_RNA Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) NA NA negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GTGAGAGGGAGTGCTAGACAA 0.512 NA G||| 276 0.0551118 0.0008 0.0331 5008 , , NA 12612 0.245 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 G 3,2231 0,3,1114 41 44 43 -0.7 0 12 dbSNP_129 43 4,4360 0,4,2178 no intron IKZF4 NM_022465.3 0,7,3292 AA,AG,GG 0.0917,0.1343,0.1061 56426546 7,6591 1117 2182 3299 SO:0001627 intron_variant AF230809 CCDS44917.1 12q13 2013-01-08 2006-08-25 2006-08-25 ENSG00000123411 64375 Zinc fingers, C2H2-type, IKAROS zinc fingers 13179 protein-coding gene gene with protein product 606239 zinc finger protein, subfamily 1A, 4 (Eos) ZNFN1A4 NA 10978333 Standard NM_022465 NM_022465 NA Approved Eos uc001sjc.1 Q9H2S9 ENST00000547791.1:c.730+52G>A chr12.hg19:g.56426546G>A NA Q96JP3 hg19 0.02 4.237225 GGAxTGC COVERED NOVEL IKZF4-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000407597.1 1 7.825126 KEEP 0 0 0 26 912 GG 0.999957 0.999946 0 + 5 60 174 0 0 11.019588 102 60 3806 149 ENST00000547791.1 0.046729 0.999989 ANKRD52 283373 __UNKNOWN__ __UNKNOWN__ 12 56651756 56651756 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:56651756T>G ENST00000267116.7 - 2 149 NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 NA NA endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 GGTGTGGGGGTGGGGGTGGGG 0.687 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091555 CCDS44920.1 12q13.3 2013-01-10 ENSG00000139645 ENSG00000139645 283373 Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits, Ankyrin repeat domain containing 26614 protein-coding gene gene with protein product protein phosphatase 6 ankyrin repeat subunit C NA Standard NM_173595 NM_173595 NA Approved FLJ34236, PP6-ARS-C uc001skm.4 Q8NB46 OTTHUMG00000170329 ENST00000267116.7:c.28-61A>C chr12.hg19:g.56651756T>G NA A6NE79|B1Q2K2 hg19 CCDS44920.1 0.02 1.913817 GGGxGGG COVERED NOVEL ANKRD52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408539.1 0 10.000921 KEEP 0 4 56 54 1522 TT 1 0.999997 0 - 9 60 172 0 0 8.484589 106 60 2930 211 ENST00000267116.7 0.078261 0.999997 ATP5B 506 __UNKNOWN__ __UNKNOWN__ 12 57039713 57039713 __UNKNOWN__ Missense_Mutation SNP G G A rs200568028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57039713G>A ENST00000262030.3 - 1 85 c.35C>T c.(34-36)cCg>cTg p.P12L ATP5B_ENST00000552919.1_Missense_Mutation_p.P12L NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 12 NA angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCGGAGGCCGGAGCAGCGGC 0.687 NA G||| 6 0.00119808 0.0 0.0 5008 , , NA 15686 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 13 14 13 NA NA 12 NA 57039713 2196 4297 6493 SO:0001583 missense M27132 CCDS8924.1 12p13.3 2012-10-12 ENSG00000110955 ENSG00000110955 506 3.6.3.14 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 830 protein-coding gene gene with protein product 102910 ATPSB NA 2687158 Standard NM_001686 NM_001686 NA Approved uc001slr.3 P06576 OTTHUMG00000170291 ENST00000262030.3:c.35C>T chr12.hg19:g.57039713G>A ENSP00000262030:p.Pro12Leu NA A8K4X0|Q14283 hg19 CCDS8924.1 0.02 3.88088 GCCxGAG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 10.11 1.261556 0.23051 . . ENSG00000110955 ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551020;ENST00000553007 D;D;T;T 0.82167 -1.58;-1.58;-0.34;1.02 5.2 4.31 0.51392 . 0.183165 0.46758 D 0.000276 T 0.63486 0.2515 N 0.03608 -0.345 0.22629 N 0.998915 B 0.02656 0.0 B 0.01281 0.0 T 0.53592 -0.8417 10 0.32370 T 0.25 0.0196 11.2354 0.48938 0.086:0.0:0.914:0.0 . 12 P06576 ATPB_HUMAN L 12 ENSP00000262030:P12L;ENSP00000450297:P12L;ENSP00000446677:P12L;ENSP00000447571:P12L ENSP00000262030:P12L P - 2 0 ATP5B 55325980 1.000000 0.71417 0.927000 0.36925 0.069000 0.16628 4.912000 0.63335 1.425000 0.47237 0.561000 0.74099 CCG NOVEL ATP5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408380.1 0 43.023306 KEEP 0 0 0 143 4842 GG 1 0.999999 0 - 5 60 179 0 0 11.175026 120 60 4284 340 ENST00000262030.3 0.04 0.999999 ZBTB39 9880 __UNKNOWN__ __UNKNOWN__ 12 57394635 57394635 __UNKNOWN__ 3'UTR SNP G G C rs3741578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57394635G>C ENST00000300101.2 - 0 4152 NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 GGGCTGGGGAGAAGCAGCAGG 0.478 NA G||| 322 0.0642971 0.0257 0.0865 5008 , , NA 21111 0.1042 NA 0.0855 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002350 CCDS31839.1 12q13.3 2013-01-09 ENSG00000166860 9880 -, BTB/POZ domain containing, Zinc fingers, C2H2-type 29014 protein-coding gene gene with protein product NA 9205841 Standard NM_014830 NM_014830 NA Approved KIAA0352, ZNF922 uc001sml.2 O15060 ENST00000300101.2:c.*1928C>G chr12.hg19:g.57394635G>C NA A7MD38|Q9UD98 hg19 CCDS31839.1 0.02 4.164986 GGAxAAG COVERED NOVEL ZBTB39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411214.1 1 19.262547 KEEP 0 0 0 64 2276 GG 1 1 0 - 5 60 189 0 0 11.952554 133 60 5072 254 ENST00000300101.2 0.036232 1 STAT6 6778 __UNKNOWN__ __UNKNOWN__ 12 57489709 57489709 __UNKNOWN__ 3'UTR SNP T T C rs1059513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57489709T>C ENST00000300134.3 - 0 3515 NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced NA NA cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 TCTCAGCCCTTGTACTTTTGC 0.423 NA T||| 351 0.0700879 0.0318 0.1009 5008 , , NA 23049 0.0913 NA 0.1074 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC005823, BQ028928 CCDS8931.1, CCDS53804.1 12q13 2013-02-14 ENSG00000166888 6778 SH2 domain containing 11368 protein-coding gene gene with protein product 601512 NA 9605853, 8085155 Standard NM_003153 NM_003153 NA Approved D12S1644, IL-4-STAT uc001sna.3 P42226 ENST00000300134.3:c.*646A>G chr12.hg19:g.57489709T>C NA A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4 hg19 CCDS8931.1 0.02 8.052477 CCTxGTA COVERED NOVEL STAT6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412248.3 1 24.974243 KEEP 0 0 0 83 2579 TT 1 1 0 - 8 60 280 0 0 16.778394 220 60 8079 403 ENST00000300134.3 0.035088 1 STAT6 6778 __UNKNOWN__ __UNKNOWN__ 12 57493727 57493727 __UNKNOWN__ Intron SNP T T G rs3024971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57493727T>G ENST00000537215.2 - 14 1722 STAT6_ENST00000556155.1_Intron|STAT6_ENST00000543873.2_Intron|STAT6_ENST00000300134.3_Intron|STAT6_ENST00000454075.3_Intron|STAT6_ENST00000538913.2_Intron NM_001178080.1 NP_001171551.1 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced NA NA cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GGGCAGTGAGTATGGAGGTGA 0.567 NA T||| 343 0.0684904 0.0348 0.0893 5008 , , NA 21116 0.0873 NA 0.1074 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 T ,,,, 201,4205 124.5+/-161.8 9,183,2011 97 87 90 ,,,, -0.6 0 12 dbSNP_102 90 890,7710 199.7+/-243.7 44,802,3454 no intron,intron,intron,intron,intron STAT6 NM_001178078.1,NM_001178079.1,NM_001178080.1,NM_001178081.1,NM_003153.4 ,,,, 53,985,5465 GG,GT,TT 10.3488,4.562,8.3884 ,,,, ,,,, 57493727 1091,11915 2203 4300 6503 SO:0001627 intron_variant BC005823, BQ028928 CCDS8931.1, CCDS53804.1 12q13 2013-02-14 ENSG00000166888 6778 SH2 domain containing 11368 protein-coding gene gene with protein product 601512 NA 9605853, 8085155 Standard NM_003153 NM_003153 NA Approved D12S1644, IL-4-STAT uc001sna.3 P42226 ENST00000537215.2:c.1278-41A>C chr12.hg19:g.57493727T>G NA A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4 hg19 CCDS53804.1 0.02 13.985782 GAGxATG COVERED NOVEL STAT6-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000412254.1 0 33.385808 KEEP 0 0 0 111 3244 TT 1 1 0 - 11 60 413 0 0 26.060515 290 60 9957 482 ENST00000537215.2 0.036545 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57543572 57543572 __UNKNOWN__ 3'UTR SNP C C T rs10876966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57543572C>T ENST00000553277.1 + 0 1423 LRP1_ENST00000554174.1_Intron|LRP1_ENST00000243077.3_Intron|LRP1_ENST00000338962.4_3'UTR Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AAACAAGGAGCATGAGGCCAC 0.592 NA C||| 863 0.172324 0.0598 0.2579 5008 , , NA 18825 0.2103 NA 0.2266 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000553277.1:c.*60C>T chr12.hg19:g.57543572C>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 0.02 7.740246 GAGxATG COVERED NOVEL LRP1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412771.1 3 46.02924 KEEP 0 1 34 165 5852 CC 1 1 0 + 9 60 284 0 0 16.093436 232 60 8593 540 ENST00000553277.1 0.037344 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57559809 57559809 __UNKNOWN__ Intron SNP G G A rs1800174 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57559809G>A ENST00000243077.3 + 17 3137 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATACTGGAGCGGGCAGGAAGC 0.647 NA G||| 1933 0.385982 0.5045 0.4438 5008 , , NA 17257 0.4355 NA 0.3131 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.2672-58G>A chr12.hg19:g.57559809G>A NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 15.559927 AGCxGGC COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 3 42.020747 KEEP 0 1 29 150 5073 GG 1 1 0 + 13 60 459 0 0 27.682333 381 60 13144 640 ENST00000243077.3 0.032995 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57567180 57567180 __UNKNOWN__ Intron SNP G G T rs1800177 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57567180G>T ENST00000243077.3 + 21 3812 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AATGTGGGCAGGAGGAGACCG 0.582 NA OREG0021936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1952 0.389776 0.5197 0.4424 5008 , , NA 21706 0.4335 NA 0.3131 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 G 2087,2319 567.1+/-382.1 500,1087,616 38 33 35 3.8 0.1 12 dbSNP_89 35 2689,5911 423.8+/-354.5 429,1831,2040 no intron LRP1 NM_002332.2 929,2918,2656 TT,TG,GG 31.2674,47.3672,36.7215 57567180 4776,8230 2203 4300 6503 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.3346+47G>T chr12.hg19:g.57567180G>T 1024 Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 6.736438 GCAxGAG COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 4.922987 KEEP 0 3 102 52 1849 GG 1 1 0 + 6 60 230 0 0 14.546851 167 60 6307 283 ENST00000243077.3 0.034682 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57567762 57567762 __UNKNOWN__ Splice_Site SNP C C T rs1800194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57567762C>T ENST00000243077.3 + 22 4012 c.3546C>T c.(3544-3546)tgC>tgT p.C1182C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1182 LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCGAGCTCTGCGGTGAGGCCT 0.627 NA C||| 1951 0.389577 0.5197 0.4424 5008 , , NA 19940 0.4335 NA 0.3131 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 C 2085,2321 571.4+/-383.1 501,1083,619 66 53 57 3546 -1 1 12 dbSNP_89 57 2690,5910 429.2+/-356.1 428,1834,2038 yes coding-synonymous-near-splice LRP1 NM_002332.2 929,2917,2657 TT,TC,CC 31.2791,47.3218,36.7138 1182/4545 57567762 4775,8231 2203 4300 6503 SO:0001630 splice_region_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.3547+1C>T chr12.hg19:g.57567762C>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 4.431579 CTGxGGT COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 9.026723 KEEP 0 0 0 30 969 CC 0.999997 0.999995 0 Silent + 10 60 354 0 0 25.278131 109 60 3570 161 ENST00000243077.3 0.084034 0.999998 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57569114 57569114 __UNKNOWN__ Intron SNP G G A rs1800178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57569114G>A ENST00000243077.3 + 23 4013 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GAATGGAGACGAATGGGGCCG 0.647 NA G||| 442 0.0882588 0.0537 0.0519 5008 , , NA 19154 0.248 NA 0.0308 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.3548-129G>A chr12.hg19:g.57569114G>A NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 -0.437523 GACxAAT COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 2 3.912321 KEEP 0 0 0 13 429 GG 0.994391 0.954475 0 + 3 60 105 0 0 7.008661 47 60 1472 63 ENST00000243077.3 0.06 0.959859 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57569513 57569513 __UNKNOWN__ Intron SNP G G A rs1800180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57569513G>A ENST00000243077.3 + 23 4259 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGGTGTGGTGGGGCAGGCCGA 0.642 NA OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1924 0.384185 0.5008 0.4409 5008 , , NA 17343 0.4325 NA 0.3131 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 G 2028,2378 562.7+/-381.0 473,1082,648 70 72 71 0 0 12 dbSNP_89 71 2687,5913 430.5+/-356.5 429,1829,2042 no intron LRP1 NM_002332.2 902,2911,2690 AA,AG,GG 31.2442,46.0281,36.2525 57569513 4715,8291 2203 4300 6503 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.3793+25G>A chr12.hg19:g.57569513G>A 1024 Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 10.840517 GTGxGGC COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 2 10.199061 KEEP 0 2 60 55 1879 GG 1 1 0 + 10 60 355 0 0 22.05443 241 60 8597 331 ENST00000243077.3 0.039841 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57578288 57578288 __UNKNOWN__ Intron SNP C C T rs1800181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57578288C>T ENST00000243077.3 + 38 6652 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACCCAGGCTCCTGTTCCCTG 0.612 NA C||| 1946 0.388578 0.5083 0.4481 5008 , , NA 19053 0.4395 NA 0.3121 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.6186+53C>T chr12.hg19:g.57578288C>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 2.136072 GCTxCTG COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 5.116363 KEEP 0 0 0 17 583 CC 0.999366 0.991465 0 + 4 60 139 0 0 9.345073 59 60 2066 82 ENST00000243077.3 0.063492 0.992094 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57579727 57579727 __UNKNOWN__ Intron SNP A A T rs1800182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57579727A>T ENST00000243077.3 + 41 7307 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGGAAGTGGGACATGGGGCGG 0.557 NA A||| 1957 0.390775 0.5091 0.4496 5008 , , NA 18277 0.4444 NA 0.3161 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 A 2056,2350 539.1+/-375.2 487,1082,634 21 22 21 0 0 12 dbSNP_89 21 2735,5865 415.4+/-351.8 443,1849,2008 no intron LRP1 NM_002332.2 930,2931,2642 TT,TA,AA 31.8023,46.6636,36.8368 57579727 4791,8215 2203 4300 6503 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.6841+36A>T chr12.hg19:g.57579727A>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 12.163225 GGGxCAT COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 1 13.068546 KEEP 0 1 30 54 1597 AA 1 1 0 + 12 60 402 0 0 24.002862 292 60 10319 405 ENST00000243077.3 0.039474 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57588433 57588433 __UNKNOWN__ Silent SNP G G A rs1800141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57588433G>A ENST00000243077.3 + 50 8608 c.8142G>A c.(8140-8142)acG>acA p.T2714T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2714 LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGAGCTGGACGTGTGACAAAG 0.622 NA g||| 483 0.0964457 0.0825 0.0548 5008 , , NA 19511 0.251 NA 0.0298 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 388,4018 196.0+/-220.5 9,370,1824 74 69 71 8142 -10.4 0.7 12 dbSNP_89 71 239,8361 96.6+/-158.3 7,225,4068 no coding-synonymous LRP1 NM_002332.2 16,595,5892 AA,AG,GG 2.7791,8.8062,4.8209 2714/4545 57588433 627,12379 2203 4300 6503 SO:0001819 synonymous_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.8142G>A chr12.hg19:g.57588433G>A NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 17.663186 GACxTGT COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 5 35.509796 KEEP 0 0 0 118 4089 GG 1 1 0 + 24 60 904 0 0 61.217028 424 60 15268 706 ENST00000243077.3 0.053571 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57588491 57588491 __UNKNOWN__ Intron SNP C C T rs1800188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57588491C>T ENST00000243077.3 + 50 8657 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CAGTGAGTGACCACTGCACCC 0.602 NA c||| 485 0.096845 0.0825 0.0548 5008 , , NA 18855 0.252 NA 0.0308 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 387,4019 194.7+/-219.5 9,369,1825 57 50 53 2.5 0.9 12 dbSNP_89 53 237,8363 94.7+/-156.6 6,225,4069 no intron LRP1 NM_002332.2 15,594,5894 TT,TC,CC 2.7558,8.7835,4.7978 57588491 624,12382 2203 4300 6503 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.8191+9C>T chr12.hg19:g.57588491C>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 10.551712 TGAxCAC COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 6 24.076997 KEEP 0 0 0 80 2794 CC 1 1 0 + 16 60 579 0 0 38.536595 279 60 10201 471 ENST00000243077.3 0.054237 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57589659 57589659 __UNKNOWN__ Silent SNP C C T rs1800154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57589659C>T ENST00000243077.3 + 54 9040 c.8574C>T c.(8572-8574)tgC>tgT p.C2858C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2858 LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}. NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCCGACCTGCGGCCCCAGTG 0.667 NA C||| 1963 0.391973 0.5182 0.4496 5008 , , NA 17257 0.4415 NA 0.3141 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 C 2160,2246 578.1+/-384.6 536,1088,579 58 60 59 8574 -3.1 1 12 dbSNP_89 59 2682,5918 429.8+/-356.3 426,1830,2044 no coding-synonymous LRP1 NM_002332.2 962,2918,2623 TT,TC,CC 31.186,49.0241,37.229 2858/4545 57589659 4842,8164 2203 4300 6503 SO:0001819 synonymous_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.8574C>T chr12.hg19:g.57589659C>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 6.01179 CTGxGGC COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 1 22.534324 KEEP 0 0 0 75 2508 CC 1 1 0 + 8 60 290 0 0 18.689326 168 60 5799 307 ENST00000243077.3 0.045455 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57590758 57590758 __UNKNOWN__ Intron SNP C C T rs1800191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57590758C>T ENST00000243077.3 + 56 9358 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCTCCCTGTGCCTGCAGTGCC 0.672 NA C||| 2042 0.407748 0.5272 0.4553 5008 , , NA 18829 0.5 NA 0.3141 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 C 2197,2205 554,1089,558 29 29 29 2.5 0 12 dbSNP_89 29 2671,5925 421,1829,2048 no intron LRP1 NM_002332.2 975,2918,2606 TT,TC,CC 31.0726,49.9091,37.4519 57590758 4868,8130 2201 4298 6499 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.8893-7C>T chr12.hg19:g.57590758C>T NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 1.890171 GTGxCTG COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 9.027015 KEEP 0 0 0 30 1020 CC 0.999997 0.999859 0 + 4 60 142 0 0 9.027689 85 60 3144 134 ENST00000243077.3 0.044944 0.999862 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57591211 57591211 __UNKNOWN__ Intron SNP C C G rs200710097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57591211C>G ENST00000243077.3 + 57 9628 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TCTCCCAGACCCAGCACAGCC 0.597 NA C||| 6 0.00119808 0.0 0.0 5008 , , NA 18992 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 94 91 92 NA NA 12 NA 57591211 2203 4300 6503 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.9162+44C>G chr12.hg19:g.57591211C>G NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 11.274185 GACxCAG COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 25.583252 KEEP 0 0 0 85 3017 CC 1 1 0 + 15 60 539 0 0 35.64679 266 60 9738 430 ENST00000243077.3 0.053381 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57591226 57591226 __UNKNOWN__ Intron SNP T T C rs1800165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57591226T>C ENST00000243077.3 + 57 9628 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACAGCCTCCCTTGCAAGTCTC 0.587 NA C||| 2244 0.448083 0.6793 0.4582 5008 , , NA 19065 0.5 NA 0.3131 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 C 863,521 273,317,102 110 108 109 -2.8 0 12 dbSNP_89 109 1007,2175 170,667,754 no intron LRP1 NM_002332.2 443,984,856 CC,CT,TT 31.6468,37.6445,40.9549 57591226 1870,2696 692 1591 2283 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.9162+59T>C chr12.hg19:g.57591226T>C NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 11.944712 CCCxTGC COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 18.992708 KEEP 0 1 34 75 2382 TT 1 1 0 + 14 60 528 0 0 36.054329 236 60 8465 375 ENST00000243077.3 0.056 1 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57593204 57593204 __UNKNOWN__ Intron SNP A A G rs1800158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57593204A>G ENST00000243077.3 + 61 10331 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AAGGGGTGGGAGCAGGCGAAC 0.637 NA A||| 381 0.0760783 0.0061 0.0461 5008 , , NA 19558 0.254 NA 0.0308 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 A 24,4382 27.2+/-55.0 0,24,2179 70 69 69 -3.3 0 12 dbSNP_89 69 223,8377 79.2+/-141.9 7,209,4084 no intron LRP1 NM_002332.2 7,233,6263 GG,GA,AA 2.593,0.5447,1.8991 57593204 247,12759 2203 4300 6503 SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.9865+21A>G chr12.hg19:g.57593204A>G NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 2.430015 GGGxGCA COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 3.008977 KEEP 0 0 0 10 306 AA 0.992708 0.991184 0 + 9 60 299 0 0 22.354393 66 60 2435 86 ENST00000243077.3 0.12 0.998465 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57603417 57603417 __UNKNOWN__ Intron SNP A A G rs1800162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57603417A>G ENST00000243077.3 + 80 12728 NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 NA NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTCGTGGACAGCATGGCCAG 0.582 NA A||| 1958 0.390974 0.5303 0.4712 5008 , , NA 19711 0.3661 NA 0.3449 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.12263-58A>G chr12.hg19:g.57603417A>G NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 3.595599 GACxGCA COVERED NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 0 5.115826 KEEP 0 0 0 17 543 AA 0.999366 0.999361 0 + 6 60 198 0 0 12.508808 106 60 3923 149 ENST00000243077.3 0.053571 0.999995 LRP1 4035 __UNKNOWN__ __UNKNOWN__ 12 57604647 57604647 __UNKNOWN__ Missense_Mutation SNP G G A rs143041547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57604647G>A ENST00000243077.3 + 83 13367 c.12901G>A c.(12901-12903)Gac>Aac p.D4301N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4301 EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTTCCTGGGCGACCGCTGCCA 0.662 NA G||| 2 0.000399361 0.0015 0.0 5008 , , NA 16420 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G ASN/ASP 8,4398 11.4+/-27.6 0,8,2195 26 31 29 12901 4.4 1 12 dbSNP_134 29 1,8595 1.2+/-3.3 0,1,4297 yes missense LRP1 NM_002332.2 23 0,9,6492 AA,AG,GG 0.0116,0.1816,0.0692 probably-damaging 4301/4545 57604647 9,12993 2203 4298 6501 SO:0001583 missense X13916 CCDS8932.1 12q13.3 2013-05-28 2010-01-26 ENSG00000123384 ENSG00000123384 4035 CD molecules, Low density lipoprotein receptors 6692 protein-coding gene gene with protein product 107770 alpha-2-macroglobulin receptor APR, A2MR NA 2548950 Standard NM_002332 NM_002332 NA Approved LRP, CD91, LRP1A, APOER uc001snd.3 Q07954 OTTHUMG00000044412 ENST00000243077.3:c.12901G>A chr12.hg19:g.57604647G>A ENSP00000243077:p.Asp4301Asn NA Q2PP12|Q86SW0|Q8IVG8 hg19 CCDS8932.1 0.02 8.325818 GGCxACC COVERED . . . . . . . . . . G 25.5 4.646374 0.87958 0.001816 1.16E-4 ENSG00000123384 ENST00000243077 T 0.20881 2.04 4.45 4.45 0.53987 Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1); 0.000000 0.64402 D 0.000002 T 0.40670 0.1126 L 0.49513 1.565 0.80722 D 1 D 0.89917 1.0 D 0.77557 0.99 T 0.13308 -1.0514 10 0.48119 T 0.1 . 16.3851 0.83502 0.0:0.0:1.0:0.0 . 4301 Q07954 LRP1_HUMAN N 4301 ENSP00000243077:D4301N ENSP00000243077:D4301N D + 1 0 LRP1 55890914 1.000000 0.71417 0.974000 0.42286 0.969000 0.65631 9.356000 0.97091 2.502000 0.84385 0.462000 0.41574 GAC NOVEL LRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412772.2 2 32.171683 KEEP 0 0 0 107 3520 GG 1 1 0 + 8 60 291 0 0 17.828691 223 60 7674 429 ENST00000243077.3 0.034632 1 STAC3 246329 __UNKNOWN__ __UNKNOWN__ 12 57637593 57637593 __UNKNOWN__ 3'UTR SNP G G A rs3204635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57637593G>A ENST00000332782.2 - 0 1298 STAC3_ENST00000546246.2_3'UTR|STAC3_ENST00000554578.1_3'UTR NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 NA NA intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741) identical protein binding (GO:0042802)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 GCGCCCGCACGCCTAAATTTC 0.632 NA OREG0021942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1257 0.250998 0.1475 0.2075 5008 , , NA 13346 0.2232 NA 0.2545 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 G 826,3580 315.5+/-294.2 88,650,1465 28 29 29 -2.3 0 12 dbSNP_105 29 2330,6270 378.7+/-339.0 339,1652,2309 no utr-3 STAC3 NM_145064.1 427,2302,3774 AA,AG,GG 27.093,18.7472,24.2657 57637593 3156,9850 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK057013 CCDS8936.1, CCDS66405.1, CCDS66406.1 12q13.3 2014-08-12 ENSG00000185482 ENSG00000185482 246329 28423 protein-coding gene gene with protein product 615521 NA 12477932 Standard NM_145064 NM_001286257 NA Approved MGC2793 uc009zpl.2 Q96MF2 OTTHUMG00000171271 ENST00000332782.2:c.*2C>T chr12.hg19:g.57637593G>A 1024 B4DUK9|Q96HU5 hg19 CCDS8936.1 0.02 10.268431 CACxCCT COVERED NOVEL STAC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412724.2 1 24.042349 KEEP 0 0 0 80 2742 GG 1 1 0 - 15 60 502 0 0 31.993049 266 60 9530 429 ENST00000332782.2 0.053381 1 RP11-123K3.4 0 __UNKNOWN__ __UNKNOWN__ 12 57649840 57649840 __UNKNOWN__ 3'UTR SNP C C T rs4075325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57649840C>T ENST00000548184.1 - 0 1809 R3HDM2_ENST00000403821.2_Silent_p.K875K|R3HDM2_ENST00000347140.3_Silent_p.K841K|R3HDM2_ENST00000358907.2_Silent_p.K841K|R3HDM2_ENST00000402412.1_Silent_p.K855K|R3HDM2_ENST00000413953.2_Silent_p.K568K|R3HDM2_ENST00000441731.2_Silent_p.K536K NA NA NA GGTTTCCATGCTTCAGTCCAC 0.502 NA C||| 2085 0.416334 0.2284 0.5533 5008 , , NA 20612 0.4405 NA 0.4155 False NA ,,, NA NA NA 2504 0.5491 NA NA NA NA 0 C 1241,3165 428.7+/-342.0 187,867,1149 198 159 172 2523 3.8 1 12 dbSNP_108 172 3992,4608 553.0+/-386.2 947,2098,1255 no coding-synonymous R3HDM2 NM_014925.3 1134,2965,2404 TT,TC,CC 46.4186,28.1661,40.2353 841/977 57649840 5233,7773 2203 4300 6503 SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000548184.1:c.*1615G>A chr12.hg19:g.57649840C>T NA hg19 0.02 10.205887 ATGxTTC COVERED NOVEL RP11-123K3.4-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000412748.2 1 12.708671 KEEP 0 2 68 66 2388 CC 1 1 0 - 9 60 327 0 0 19.597487 280 60 10644 444 ENST00000548184.1 0.031142 1 INHBE 83729 __UNKNOWN__ __UNKNOWN__ 12 57851182 57851182 __UNKNOWN__ 3'UTR SNP G G A rs473465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57851182G>A ENST00000266646.2 + 0 1820 INHBE_ENST00000551553.1_Intron NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E NA NA growth (GO:0040007) extracellular region (GO:0005576) breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 GAAGTTCCCTGGTTTTTCCCA 0.498 NA G||| 1761 0.351637 0.4342 0.2752 5008 , , NA 18491 0.3165 NA 0.2356 False NA ,,, NA NA NA 2504 0.4499 NA NA NA GBM(191;1808 2166 15720 36624 50371) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8939.1 12q13.2 2008-02-05 ENSG00000139269 83729 24029 protein-coding gene gene with protein product 612031 NA 12242034 Standard NM_031479 NM_031479 NA Approved activin, MGC4638 uc001snw.3 P58166 ENST00000266646.2:c.*551G>A chr12.hg19:g.57851182G>A NA hg19 CCDS8939.1 0.02 1.913742 CCTxGTT COVERED NOVEL INHBE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406773.1 2 2.543551 KEEP 0 1 33 20 700 GG 0.999869 0.998737 0 + 4 60 147 0 0 9.785035 73 60 2670 116 ENST00000266646.2 0.051948 0.998867 MBD6 114785 __UNKNOWN__ __UNKNOWN__ 12 57922363 57922363 __UNKNOWN__ Intron SNP A A G rs2620679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57922363A>G ENST00000355673.3 + 10 3176 MBD6_ENST00000431731.2_Intron NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 NA NA chromocenter (GO:0010369)|nucleus (GO:0005634) chromatin binding (GO:0003682) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GAGTGCTGGTAGTCTGGGCTC 0.577 NA G||| 1183 0.236222 0.2859 0.1427 5008 , , NA 13393 0.3522 NA 0.1759 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 G 1144,3262 688.5+/-405.0 152,840,1211 46 53 51 -0.8 0 12 dbSNP_100 51 1228,7372 752.1+/-407.4 88,1052,3160 no intron MBD6 NM_052897.3 240,1892,4371 GG,GA,AA 14.2791,25.9646,18.2377 57922363 2372,10634 2203 4300 6503 SO:0001627 intron_variant AB067474 CCDS8944.1 12q13.2 2008-02-05 ENSG00000166987 114785 20445 protein-coding gene gene with protein product NA 12529184 Standard NM_052897 NA Approved KIAA1887 uc001soj.1 Q96DN6 ENST00000355673.3:c.2820+20A>G chr12.hg19:g.57922363A>G NA Q8N3M0|Q8NA81|Q96Q00 hg19 CCDS8944.1 0.02 5.886305 GGTxGTC COVERED NOVEL MBD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407250.1 2 20.157194 KEEP 0 0 0 67 2042 AA 1 1 0 + 6 60 211 0 0 12.546995 174 60 6229 299 ENST00000355673.3 0.033333 1 KIF5A 3798 __UNKNOWN__ __UNKNOWN__ 12 57958313 57958313 __UNKNOWN__ Intron SNP A A G rs775322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:57958313A>G ENST00000455537.2 + 5 719 KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 GTCCCAGTGGATGAGGGTGTG 0.443 NA G||| 2671 0.533347 0.4357 0.4784 5008 , , NA 21229 0.7738 NA 0.3877 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 G 1901,2505 624.0+/-394.2 413,1075,715 110 110 110 -3.8 0 12 dbSNP_86 110 3135,5465 655.5+/-401.3 588,1959,1753 no intron KIF5A NM_004984.2 1001,3034,2468 GG,GA,AA 36.4535,43.1457,38.7206 57958313 5036,7970 2203 4300 6503 SO:0001627 intron_variant U06698 CCDS8945.1 12q13.13 2011-07-15 2004-02-13 ENSG00000155980 3798 Kinesins 6323 protein-coding gene gene with protein product 602821 spastic paraplegia 10 (autosomal dominant) SPG10 NA 9858832, 10441583, 16489470 Standard NM_004984 NM_004984 NA Approved D12S1889, NKHC, MY050 uc001sor.1 Q12840 OTTHUMG00000170143 ENST00000455537.2:c.445+22A>G chr12.hg19:g.57958313A>G NA A6H8M5|Q4LE26 hg19 CCDS8945.1 0.02 2.162669 TGGxTGA COVERED NOVEL KIF5A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407634.1 2 2.944459 KEEP 0 1 38 23 709 AA 0.999909 0.999817 0 + 7 60 261 0 0 18.622095 87 60 3198 156 ENST00000455537.2 0.074468 0.999907 LRIG3 121227 __UNKNOWN__ __UNKNOWN__ 12 59307957 59307957 __UNKNOWN__ Intron SNP C C T rs11834094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:59307957C>T ENST00000320743.3 - 2 595 LRIG3_ENST00000379141.4_Intron NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 NA NA otolith morphogenesis (GO:0032474) cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTGAATAACTCACTATAATCC 0.308 NA T ROS1 NSCLC T||| 857 0.171126 0.0983 0.268 5008 , , NA 18129 0.2629 NA 0.0775 False NA ,,, NA NA NA 2504 0.2025 NA NA NA Dom yes 12 12q14.1 121227 leucine-rich repeats and immunoglobulin-like domains 3 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY505340 CCDS8960.1, CCDS44933.1 12q13.2 2013-01-11 ENSG00000139263 121227 Immunoglobulin superfamily / I-set domain containing 30991 protein-coding gene gene with protein product 608870 NA Standard NM_153377 NM_153377 NA Approved FLJ90440, KIAA3016 uc001sqr.4 Q6UXM1 OTTHUMG00000169940 ENST00000320743.3:c.308+88G>A chr12.hg19:g.59307957C>T NA Q6UXL7|Q8NC72 hg19 CCDS8960.1 0.02 9.736233 ACTxACT COVERED NOVEL LRIG3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406623.1 0 14.445307 KEEP 0 0 0 48 1603 CC 1 1 0 - 11 60 379 0 0 22.742905 286 60 10711 369 ENST00000320743.3 0.037037 1 LRIG3 121227 __UNKNOWN__ __UNKNOWN__ 12 59308003 59308003 __UNKNOWN__ Intron SNP C C T rs11172820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:59308003C>T ENST00000320743.3 - 2 595 LRIG3_ENST00000379141.4_Intron NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 NA NA otolith morphogenesis (GO:0032474) cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TAAGGGGTAACGTATTTTACT 0.328 NA T ROS1 NSCLC T||| 861 0.171925 0.0953 0.268 5008 , , NA 16883 0.2698 NA 0.0785 False NA ,,, NA NA NA 2504 0.2025 NA NA NA Dom yes 12 12q14.1 121227 leucine-rich repeats and immunoglobulin-like domains 3 E 0 T , 453,3953 781.9+/-414.5 16,421,1766 64 67 66 , -7.1 0 12 dbSNP_129 66 739,7861 784.7+/-407.6 27,685,3588 no intron,intron LRIG3 NM_001136051.1,NM_153377.3 , 43,1106,5354 TT,TC,CC 8.593,10.2814,9.165 , , 59308003 1192,11814 2203 4300 6503 SO:0001627 intron_variant AY505340 CCDS8960.1, CCDS44933.1 12q13.2 2013-01-11 ENSG00000139263 121227 Immunoglobulin superfamily / I-set domain containing 30991 protein-coding gene gene with protein product 608870 NA Standard NM_153377 NM_153377 NA Approved FLJ90440, KIAA3016 uc001sqr.4 Q6UXM1 OTTHUMG00000169940 ENST00000320743.3:c.308+42G>A chr12.hg19:g.59308003C>T NA Q6UXL7|Q8NC72 hg19 CCDS8960.1 0.02 19.083985 TAAxGTA COVERED NOVEL LRIG3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406623.1 4 40.028396 KEEP 0 0 0 133 4591 CC 1 1 0 - 14 60 513 0 0 30.816165 443 60 16102 703 ENST00000320743.3 0.030635 1 SLC16A7 9194 __UNKNOWN__ __UNKNOWN__ 12 60173356 60173356 __UNKNOWN__ Missense_Mutation SNP A A T rs3763980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:60173356A>T ENST00000261187.4 + 5 1497 c.1333A>T c.(1333-1335)Acc>Tcc p.T445S SLC16A7_ENST00000552024.1_Missense_Mutation_p.T445S|SLC16A7_ENST00000547379.1_Missense_Mutation_p.T445S|SLC16A7_ENST00000552432.1_Missense_Mutation_p.T445S|SLC16A7_ENST00000543448.1_Missense_Mutation_p.T346S NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 445 NA T -> S (in dbSNP:rs3763980). {ECO:0000269|Ref.2}. lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293) endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119) AAGGCAGAAGACCAGAGAATC 0.423 NA A||| 1227 0.245008 0.2088 0.1801 5008 , , NA 15272 0.3175 NA 0.3002 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 A SER/THR 934,3472 351.1+/-311.1 92,750,1361 96 82 87 1333 -2.5 0 12 dbSNP_107 87 2055,6545 355.9+/-330.1 263,1529,2508 yes missense SLC16A7 NM_004731.3 58 355,2279,3869 TT,TA,AA 23.8953,21.1984,22.9817 benign 445/479 60173356 2989,10017 2203 4300 6503 SO:0001583 missense AF049608 CCDS8961.1 12q14.1 2013-07-18 2013-07-18 ENSG00000118596 ENSG00000118596 9194 Solute carriers 10928 protein-coding gene gene with protein product 603654 solute carrier family 16 (monocarboxylic acid transporters), member 7 NA 9786900 Standard NM_004731 NM_004731 NA Approved MCT2 uc001sqt.4 O60669 OTTHUMG00000169923 ENST00000261187.4:c.1333A>T chr12.hg19:g.60173356A>T ENSP00000261187:p.Thr445Ser NA Q8NEM3|Q9UPB3 hg19 CCDS8961.1 0.02 22.392579 AAGxCCA COVERED 602 0.27564102564102566 105 0.21341463414634146 86 0.23756906077348067 191 0.3339160839160839 220 0.29023746701846964 A 0.008 -1.902371 0.00512 0.211984 0.238953 ENSG00000118596 ENST00000552432;ENST00000547379;ENST00000552024;ENST00000261187;ENST00000543448 T;T;T;T;T 0.16196 2.49;2.49;2.49;2.49;2.36 1.88 -2.51 0.06365 . 1.506430 0.03748 N 0.256134 T 0.00012 0.0000 N 0.01874 -0.695 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.44436 -0.9328 8 . . . . 2.9296 0.05795 0.393:0.2573:0.3497:0.0 rs3763980;rs17571543;rs56973174;rs3763980 445 O60669 MOT2_HUMAN S 445;445;445;445;346 ENSP00000449547:T445S;ENSP00000448071:T445S;ENSP00000448742:T445S;ENSP00000261187:T445S;ENSP00000443731:T346S . T + 1 0 SLC16A7 58459623 0.503000 0.26115 0.000000 0.03702 0.010000 0.07245 1.138000 0.31491 -0.635000 0.05531 -0.456000 0.05471 ACC NOVEL SLC16A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406587.1 1 22.865602 KEEP 0 0 0 76 2400 AA 1 1 0 + 27 60 918 0 0 57.654895 552 60 19742 796 ENST00000261187.4 0.046632 1 FAM19A2 338811 __UNKNOWN__ __UNKNOWN__ 12 62104219 62104219 __UNKNOWN__ Intron SNP A A C rs7399207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:62104219A>C ENST00000416284.3 - 5 1969 FAM19A2_ENST00000551619.1_Intron|FAM19A2_ENST00000550003.1_Intron|FAM19A2_ENST00000551449.1_Intron NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 NA NA cytoplasm (GO:0005737) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) AGGAGAAAATATAGTCAACAT 0.323 NA A||| 2066 0.41254 0.413 0.4308 5008 , , NA 16673 0.4087 NA 0.4503 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 A 1737,2669 518.8+/-369.8 360,1017,826 167 160 162 0.4 0 12 dbSNP_116 162 3770,4830 534.6+/-382.6 847,2076,1377 no intron FAM19A2 NM_178539.3 1207,3093,2203 CC,CA,AA 43.8372,39.4235,42.342 62104219 5507,7499 2203 4300 6503 SO:0001627 intron_variant AY325115 CCDS8962.1 12q14.1 2012-10-03 ENSG00000198673 ENSG00000198673 338811 21589 protein-coding gene gene with protein product NA 15028294 Standard NM_178539 NM_178539 NA Approved TAFA-2 uc001sqw.3 Q8N3H0 OTTHUMG00000170207 ENST00000416284.3:c.385-21T>G chr12.hg19:g.62104219A>C NA B3KVV4|Q4G0R9|Q68DK0|Q6GTX6 hg19 CCDS8962.1 0.02 12.97267 AATxTAG COVERED NOVEL FAM19A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407967.2 2 9.928984 KEEP 0 0 0 33 1010 AA 0.999998 0.999998 0 - 17 60 625 0 0 41.910617 297 60 10969 392 ENST00000416284.3 0.05414 1 FAM19A2 338811 __UNKNOWN__ __UNKNOWN__ 12 62114671 62114671 __UNKNOWN__ Intron SNP T T C rs7485027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:62114671T>C ENST00000416284.3 - 5 1969 FAM19A2_ENST00000551619.1_Intron|FAM19A2_ENST00000550003.1_Intron|FAM19A2_ENST00000551449.1_Intron NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 NA NA cytoplasm (GO:0005737) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) TCTTTCTACTTCTCCATTCGA 0.408 NA T||| 2764 0.551917 0.5923 0.5173 5008 , , NA 18985 0.5992 NA 0.5179 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 T 996,756 288,420,168 33 32 32 4.9 1 12 dbSNP_116 32 1981,2001 494,993,504 no intron FAM19A2 NM_178539.3 782,1413,672 CC,CT,TT 49.7489,43.1507,48.0816 62114671 2977,2757 876 1991 2867 SO:0001627 intron_variant AY325115 CCDS8962.1 12q14.1 2012-10-03 ENSG00000198673 ENSG00000198673 338811 21589 protein-coding gene gene with protein product NA 15028294 Standard NM_178539 NM_178539 NA Approved TAFA-2 uc001sqw.3 Q8N3H0 OTTHUMG00000170207 ENST00000416284.3:c.385-10473A>G chr12.hg19:g.62114671T>C NA B3KVV4|Q4G0R9|Q68DK0|Q6GTX6 hg19 CCDS8962.1 0.02 13.869642 ACTxCTC COVERED NOVEL FAM19A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407967.2 0 15.646996 KEEP 0 0 0 52 1641 TT 1 1 0 - 19 60 708 0 0 48.133508 318 60 11454 469 ENST00000416284.3 0.05638 1 USP15 9958 __UNKNOWN__ __UNKNOWN__ 12 62729222 62729222 __UNKNOWN__ Intron SNP G G C rs2242032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:62729222G>C ENST00000280377.5 + 6 741 USP15_ENST00000550632.1_Intron|USP15_ENST00000393654.3_Intron|USP15_ENST00000312635.6_3'UTR|USP15_ENST00000353364.3_Intron NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 NA NA BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) TCCATCCTTAGCTCTCTGATC 0.383 NA C||| 2055 0.410343 0.6233 0.3473 5008 , , NA 20224 0.1587 NA 0.4294 False NA ,,, NA NA NA 2504 0.407 NA NA NA Melanoma(181;615 2041 39364 49691 50001) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011101 CCDS8963.1, CCDS58250.1, CCDS58251.1 12q14 2006-07-18 2005-08-08 9958 Ubiquitin-specific peptidases 12613 protein-coding gene gene with protein product 604731 ubiquitin specific protease 15 NA 12838346 Standard NM_006313 NM_001252078 NA Approved KIAA0529, UNPH4 uc001src.2 Q9Y4E8 OTTHUMG00000170186 ENST00000280377.5:c.683+9508G>C chr12.hg19:g.62729222G>C NA Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5 hg19 CCDS58251.1 0.02 8.062339 TTAxCTC COVERED NOVEL USP15-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407831.2 0 7.223353 KEEP 0 0 0 24 853 GG 0.999909 0.999909 0 + 7 60 252 0 0 14.980568 220 60 8284 281 ENST00000280377.5 0.030837 1 USP15 9958 __UNKNOWN__ __UNKNOWN__ 12 62730305 62730305 __UNKNOWN__ Intron SNP A A G rs12310651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:62730305A>G ENST00000280377.5 + 6 741 USP15_ENST00000550632.1_Intron|USP15_ENST00000393654.3_Intron|USP15_ENST00000312635.6_3'UTR|USP15_ENST00000353364.3_Intron NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 NA NA BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) taaagatccaaagaacttctg 0.308 NA A||| 1120 0.223642 0.3449 0.1499 5008 , , NA 17206 0.1329 NA 0.1849 False NA ,,, NA NA NA 2504 0.2454 NA NA NA Melanoma(181;615 2041 39364 49691 50001) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011101 CCDS8963.1, CCDS58250.1, CCDS58251.1 12q14 2006-07-18 2005-08-08 9958 Ubiquitin-specific peptidases 12613 protein-coding gene gene with protein product 604731 ubiquitin specific protease 15 NA 12838346 Standard NM_006313 NM_001252078 NA Approved KIAA0529, UNPH4 uc001src.2 Q9Y4E8 OTTHUMG00000170186 ENST00000280377.5:c.683+10591A>G chr12.hg19:g.62730305A>G NA Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5 hg19 CCDS58251.1 0.02 6.730166 CCAxAGA COVERED NOVEL USP15-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000407831.2 2 7.657381 KEEP 0 1 39 39 1195 AA 1 1 0 + 6 60 227 0 0 14.591062 146 60 5213 231 ENST00000280377.5 0.039474 1 PPM1H 57460 __UNKNOWN__ __UNKNOWN__ 12 63038638 63038638 __UNKNOWN__ 3'UTR SNP G G A rs10877901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:63038638G>A ENST00000228705.6 - 0 5476 NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H NA NA phosphoprotein phosphatase activity (GO:0004721) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) GATCAGCTTCGTTGTTCTTTG 0.383 NA G||| 488 0.0974441 0.0961 0.0461 5008 , , NA 20821 0.1141 NA 0.0288 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032983 CCDS44934.1 12q14.1 2012-04-17 2010-03-05 2004-03-26 ENSG00000111110 ENSG00000111110 57460 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 18583 protein-coding gene gene with protein product neurite extension-related protein phosphatase related to PP2C ras homolog gene family, member C like 1, protein phosphatase 1H (PP2C domain containing) ARHCL1 NA Standard NM_020700 NM_020700 NA Approved KIAA1157, FLJ13253, NERPP-2C uc001srk.3 Q9ULR3 OTTHUMG00000169990 ENST00000228705.6:c.*3631C>T chr12.hg19:g.63038638G>A NA B1Q2A9|B2RXG4|Q6PI86 hg19 CCDS44934.1 0.02 4.576122 TTCxTTG COVERED NOVEL PPM1H-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406760.2 1 8.727995 KEEP 0 0 0 29 994 GG 0.999997 0.999993 0 - 6 60 228 0 0 15.459497 108 60 3787 162 ENST00000228705.6 0.052632 0.999996 PPM1H 57460 __UNKNOWN__ __UNKNOWN__ 12 63127300 63127300 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:63127300G>A ENST00000228705.6 - 5 1255 NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H NA NA phosphoprotein phosphatase activity (GO:0004721) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) gcctctcaaagtgctaggatt 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032983 CCDS44934.1 12q14.1 2012-04-17 2010-03-05 2004-03-26 ENSG00000111110 ENSG00000111110 57460 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 18583 protein-coding gene gene with protein product neurite extension-related protein phosphatase related to PP2C ras homolog gene family, member C like 1, protein phosphatase 1H (PP2C domain containing) ARHCL1 NA Standard NM_020700 NM_020700 NA Approved KIAA1157, FLJ13253, NERPP-2C uc001srk.3 Q9ULR3 OTTHUMG00000169990 ENST00000228705.6:c.954+3981C>T chr12.hg19:g.63127300G>A NA B1Q2A9|B2RXG4|Q6PI86 hg19 CCDS44934.1 0.02 -0.052642 AAAxTGC UNCOVERED NOVEL PPM1H-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406760.2 4 2.408016 KEEP 1 0 0 8 300 GG 0 0 0 - 3 60 115 0 0 11.125091 3 60 123 19 ENST00000228705.6 0.5 0.036766 SRGAP1 57522 __UNKNOWN__ __UNKNOWN__ 12 64265724 64265724 __UNKNOWN__ Intron SNP C C T rs11175195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:64265724C>T ENST00000355086.3 + 1 591 SRGAP1_ENST00000357825.3_Intron NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 NA NA axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) ATCATAGCACCTCTTTCCCTG 0.468 NA C||| 1271 0.253794 0.3517 0.1254 5008 , , NA 17836 0.3929 NA 0.0885 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037725 CCDS8967.1 12q13.13 2011-07-04 ENSG00000196935 ENSG00000196935 57522 Rho GTPase activating proteins 17382 protein-coding gene gene with protein product 606523 NA 11672528 Standard NM_020762 NA Approved KIAA1304, ARHGAP13 uc010ssp.1 Q7Z6B7 OTTHUMG00000168750 ENST00000355086.3:c.67+27061C>T chr12.hg19:g.64265724C>T NA Q9H8A3|Q9P2P2 hg19 CCDS8967.1 0.02 1.877733 CACxTCT COVERED NOVEL SRGAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000400896.1 0 5.417143 KEEP 0 0 0 18 609 CC 0.999859 0.999177 0 + 5 60 180 0 0 12.238842 76 60 2639 100 ENST00000355086.3 0.061728 0.999317 SRGAP1 57522 __UNKNOWN__ __UNKNOWN__ 12 64521567 64521567 __UNKNOWN__ Intron SNP C C G rs10878106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:64521567C>G ENST00000355086.3 + 20 3064 SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 NA NA axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGAGGAGCCACTGCACCTCAG 0.567 NA C||| 1542 0.307907 0.1868 0.2421 5008 , , NA 19360 0.5615 NA 0.2505 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037725 CCDS8967.1 12q13.13 2011-07-04 ENSG00000196935 ENSG00000196935 57522 Rho GTPase activating proteins 17382 protein-coding gene gene with protein product 606523 NA 11672528 Standard NM_020762 NA Approved KIAA1304, ARHGAP13 uc010ssp.1 Q7Z6B7 OTTHUMG00000168750 ENST00000355086.3:c.2540+63C>G chr12.hg19:g.64521567C>G NA Q9H8A3|Q9P2P2 hg19 CCDS8967.1 0.02 15.210347 CCAxTGC COVERED NOVEL SRGAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000400896.1 0 18.057637 KEEP 0 0 0 60 2121 CC 1 1 0 + 13 60 483 0 0 30.316686 341 60 12845 465 ENST00000355086.3 0.036723 1 SRGAP1 57522 __UNKNOWN__ __UNKNOWN__ 12 64538606 64538606 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:64538606T>A ENST00000355086.3 + 0 5936 SRGAP1_ENST00000357825.3_3'UTR NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 NA NA axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTTCCAAAATAATCCCCCAC 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037725 CCDS8967.1 12q13.13 2011-07-04 ENSG00000196935 ENSG00000196935 57522 Rho GTPase activating proteins 17382 protein-coding gene gene with protein product 606523 NA 11672528 Standard NM_020762 NA Approved KIAA1304, ARHGAP13 uc010ssp.1 Q7Z6B7 OTTHUMG00000168750 ENST00000355086.3:c.*2154T>A chr12.hg19:g.64538606T>A NA Q9H8A3|Q9P2P2 hg19 CCDS8967.1 0.02 -0.200004 AAAxAAT COVERED NOVEL SRGAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000400896.1 2 3.008422 KEEP 0 0 0 10 296 TT 0.992708 0.486967 0 + 5 60 96 1 0 6.892542 17 60 577 42 ENST00000355086.3 0.227273 0.490544 SRGAP1 57522 __UNKNOWN__ __UNKNOWN__ 12 64540960 64540960 __UNKNOWN__ 3'UTR SNP A A G rs7131691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:64540960A>G ENST00000355086.3 + 0 8290 RP11-196H14.3_ENST00000536455.1_RNA|SRGAP1_ENST00000357825.3_3'UTR NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 NA NA axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) TGCCCGCGTAATTAAATCAGT 0.413 NA A||| 2126 0.424521 0.1293 0.4352 5008 , , NA 16881 0.6806 NA 0.5408 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037725 CCDS8967.1 12q13.13 2011-07-04 ENSG00000196935 ENSG00000196935 57522 Rho GTPase activating proteins 17382 protein-coding gene gene with protein product 606523 NA 11672528 Standard NM_020762 NA Approved KIAA1304, ARHGAP13 uc010ssp.1 Q7Z6B7 OTTHUMG00000168750 ENST00000355086.3:c.*4508A>G chr12.hg19:g.64540960A>G NA Q9H8A3|Q9P2P2 hg19 CCDS8967.1 0.02 3.775288 GTAxTTA COVERED NOVEL SRGAP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000400896.1 1 5.115295 KEEP 0 0 0 17 530 AA 0.999366 0.999366 0 + 5 60 173 0 0 10.374265 132 60 4739 178 ENST00000355086.3 0.036496 1 XPOT 11260 __UNKNOWN__ __UNKNOWN__ 12 64833060 64833060 __UNKNOWN__ Silent SNP C C T rs201776165 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:64833060C>T ENST00000332707.5 + 23 3299 c.2770C>T c.(2770-2772)Ctg>Ttg p.L924L NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 924 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. NA intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) tRNA binding (GO:0000049) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) ACAAGAATACCTGCCCTCCTT 0.388 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 18597 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 106 93 98 NA NA 12 NA 64833060 2203 4300 6503 SO:0001819 synonymous_variant AF039022 CCDS31852.1 12q14.1 2012-10-17 2012-10-17 ENSG00000184575 ENSG00000184575 11260 Exportins 12826 protein-coding gene gene with protein product 603180 exportin, tRNA (nuclear export receptor for tRNAs) NA 9660920, 9512417 Standard NM_007235 NM_007235 NA Approved XPO3 uc001ssb.3 O43592 OTTHUMG00000168794 ENST00000332707.5:c.2770C>T chr12.hg19:g.64833060C>T NA A6NLH1|O43784|Q8WUG2|Q9BVS7 hg19 CCDS31852.1 0.02 6.60783 TACxTGC COVERED NOVEL XPOT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401122.1 2 13.544159 KEEP 0 0 0 45 1605 CC 1 1 0 + 6 60 220 0 0 13.65929 160 60 5930 246 ENST00000332707.5 0.036145 1 RASSF3 283349 __UNKNOWN__ __UNKNOWN__ 12 65091314 65091314 __UNKNOWN__ 3'UTR SNP T T G rs15958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:65091314T>G ENST00000542104.1 + 0 3459 NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886) identical protein binding (GO:0042802) breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) AATGGCAAAATTGTTTCCATT 0.279 NA T||| 1704 0.340256 0.1914 0.3559 5008 , , NA 15485 0.3433 NA 0.4612 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8969.1 12q14.2 2008-02-22 2008-02-22 ENSG00000153179 ENSG00000153179 283349 14271 protein-coding gene gene with protein product 607019 NA Standard NM_178169 NA Approved uc001ssd.3 Q86WH2 OTTHUMG00000168812 ENST00000542104.1:c.*2622T>G chr12.hg19:g.65091314T>G NA Q86WH1 hg19 CCDS8969.1 0.02 1.994684 AAAxTGT COVERED NOVEL RASSF3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401161.1 1 6.31983 KEEP 0 0 0 21 683 TT 0.999869 0.998979 0 + 5 60 190 0 0 13.292627 74 60 2746 125 ENST00000542104.1 0.063291 0.99911 HMGA2 8091 __UNKNOWN__ __UNKNOWN__ 12 66346121 66346121 __UNKNOWN__ 3'UTR SNP A A G rs1480469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66346121A>G ENST00000541363.1 + 0 1581 HMGA2_ENST00000403681.2_Intron|HMGA2_ENST00000393577.3_Intron P52926 HMGA2_HUMAN high mobility group AT-hook 2 NA NA adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863) nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141) 5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) TCTACCTTGCATCCTGTTTTC 0.363 NA T LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT lipoma, leiomyoma, pleiomorphic salivary gland adenoma A||| 1597 0.31889 0.0582 0.4049 5008 , , NA 17230 0.748 NA 0.2097 False NA ,,, NA NA NA 2504 0.2802 NA NA NA Dom yes 12 12q15 8091 high mobility group AT-hook 2 (HMGIC) M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U28754 CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1 12q15 2011-07-01 2002-07-25 2002-07-26 ENSG00000149948 ENSG00000149948 8091 High-mobility group / Canonical 5009 protein-coding gene gene with protein product 600698 high-mobility group (nonhistone chromosomal) protein isoform I-C HMGIC NA 8824803, 9003504 Standard NM_003483 XM_006719620 NA Approved BABL, LIPO uc001ssx.3 P52926 OTTHUMG00000168936 ENST00000541363.1:c.*908A>G chr12.hg19:g.66346121A>G NA E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188 hg19 0.02 24.337681 TGCxTCC COVERED NOVEL HMGA2-011 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000401662.1 5 20.461849 KEEP 0 0 0 68 2152 AA 1 1 0 + 22 60 786 0 0 48.410275 563 60 20777 790 ENST00000541363.1 0.037607 1 HMGA2 8091 __UNKNOWN__ __UNKNOWN__ 12 66347870 66347870 __UNKNOWN__ 3'UTR SNP A A C rs10878350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66347870A>C ENST00000541363.1 + 0 3330 HMGA2_ENST00000403681.2_Intron P52926 HMGA2_HUMAN high mobility group AT-hook 2 NA NA adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863) nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141) 5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) CACtgggctaattaatttctc 0.333 NA T LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT lipoma, leiomyoma, pleiomorphic salivary gland adenoma A||| 1674 0.334265 0.1293 0.3977 5008 , , NA 17161 0.754 NA 0.1998 False NA ,,, NA NA NA 2504 0.272 NA NA NA Dom yes 12 12q15 8091 high mobility group AT-hook 2 (HMGIC) M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U28754 CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1 12q15 2011-07-01 2002-07-25 2002-07-26 ENSG00000149948 ENSG00000149948 8091 High-mobility group / Canonical 5009 protein-coding gene gene with protein product 600698 high-mobility group (nonhistone chromosomal) protein isoform I-C HMGIC NA 8824803, 9003504 Standard NM_003483 XM_006719620 NA Approved BABL, LIPO uc001ssx.3 P52926 OTTHUMG00000168936 ENST00000541363.1:c.*2657A>C chr12.hg19:g.66347870A>C NA E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188 hg19 0.02 6.586338 CTAxTTA COVERED NOVEL HMGA2-011 PUTATIVE basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000401662.1 1 10.831697 KEEP 0 0 0 36 1132 AA 0.999999 0.999999 0 + 8 60 296 0 0 19.69506 149 60 5415 223 ENST00000541363.1 0.050955 1 HMGA2 8091 __UNKNOWN__ __UNKNOWN__ 12 66360068 66360068 __UNKNOWN__ 3'UTR SNP C C T rs11175982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66360068C>T ENST00000403681.2 + 0 4466 NM_003483.4 NP_003474.1 P52926 HMGA2_HUMAN high mobility group AT-hook 2 NA NA adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863) nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141) 5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134) HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2) lung(2) 2 all_cancers(1;5.78e-46) GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156) GBM - Glioblastoma multiforme(28;0.0386) TTGGTCAAAACAGATCAAGGA 0.393 NA T LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT lipoma, leiomyoma, pleiomorphic salivary gland adenoma C||| 1665 0.332468 0.1286 0.389 5008 , , NA 19348 0.753 NA 0.1988 False NA ,,, NA NA NA 2504 0.272 NA NA NA Dom yes 12 12q15 8091 high mobility group AT-hook 2 (HMGIC) M 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U28754 CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1 12q15 2011-07-01 2002-07-25 2002-07-26 ENSG00000149948 ENSG00000149948 8091 High-mobility group / Canonical 5009 protein-coding gene gene with protein product 600698 high-mobility group (nonhistone chromosomal) protein isoform I-C HMGIC NA 8824803, 9003504 Standard NM_003483 XM_006719620 NA Approved BABL, LIPO uc001ssx.3 P52926 OTTHUMG00000168936 ENST00000403681.2:c.*2996C>T chr12.hg19:g.66360068C>T NA E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188 hg19 CCDS44936.1 0.02 4.175795 AAAxAGA COVERED NOVEL HMGA2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000401654.1 1 6.320677 KEEP 0 0 0 21 743 CC 0.999869 0.999865 0 + 8 60 285 0 0 19.741503 106 60 4079 157 ENST00000403681.2 0.070175 0.999996 TMBIM4 51643 __UNKNOWN__ __UNKNOWN__ 12 66531603 66531603 __UNKNOWN__ 3'UTR SNP T T C rs11176054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66531603T>C ENST00000358230.3 - 0 974 TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_3'UTR NM_016056.2 NP_057140.2 Q9HC24 LFG4_HUMAN transmembrane BAX inhibitor motif containing 4 NA NA apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848) Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) CAAATAAAGATTGTAACAGTA 0.244 NA T||| 1546 0.308706 0.2186 0.2161 5008 , , NA 18149 0.3522 NA 0.329 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF113127 CCDS41805.1, CCDS61187.1, CCDS73493.1 12q14.3 2014-05-09 ENSG00000155957 ENSG00000155957 51643 24257 protein-coding gene gene with protein product NA 11042152, 10810093 Standard NM_016056 NM_001282609 NA Approved CGI-119, S1R, ZPRO, LFG4, GAAP uc001stc.3 Q9HC24 OTTHUMG00000168973 ENST00000358230.3:c.*137A>G chr12.hg19:g.66531603T>C NA Q542Z6|Q9UHY5|Q9Y3C2 hg19 CCDS41805.1 0.02 2.206752 AGAxTGT COVERED NOVEL TMBIM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401832.2 0 2.708776 KEEP 0 0 0 9 310 AT 0.992708 0.992513 0 - 5 60 193 0 0 13.327068 84 60 3006 111 ENST00000358230.3 0.05618 0.999804 TMBIM4 51643 __UNKNOWN__ __UNKNOWN__ 12 66533329 66533329 __UNKNOWN__ Intron SNP A A G rs11176056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66533329A>G ENST00000286424.7 - 7 616 TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000358230.3_Intron|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000544599.1_Intron|TMBIM4_ENST00000398033.4_Intron|TMBIM4_ENST00000542724.1_Intron Q9HC24 LFG4_HUMAN transmembrane BAX inhibitor motif containing 4 NA NA apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848) Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) tttccaggccagcgtgtaggg 0.483 NA A||| 1533 0.30611 0.2186 0.2161 5008 , , NA 18047 0.3452 NA 0.329 False NA ,,, NA NA NA 2504 0.4243 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF113127 CCDS41805.1, CCDS61187.1, CCDS73493.1 12q14.3 2014-05-09 ENSG00000155957 ENSG00000155957 51643 24257 protein-coding gene gene with protein product NA 11042152, 10810093 Standard NM_016056 NM_001282609 NA Approved CGI-119, S1R, ZPRO, LFG4, GAAP uc001stc.3 Q9HC24 OTTHUMG00000168973 ENST00000286424.7:c.606-780T>C chr12.hg19:g.66533329A>G NA Q542Z6|Q9UHY5|Q9Y3C2 hg19 0.02 2.359648 GCCxGCG COVERED NOVEL TMBIM4-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000401833.1 2 4.81463 KEEP 0 0 0 16 507 AA 0.997832 0.99732 0 - 5 60 174 0 0 11.586723 78 60 2856 113 ENST00000286424.7 0.060241 0.999487 IRAK3 11213 __UNKNOWN__ __UNKNOWN__ 12 66647206 66647206 __UNKNOWN__ 3'UTR SNP T T C rs10878395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66647206T>C ENST00000261233.4 + 0 7467 RP11-335I12.2_ENST00000536412.1_RNA NM_007199.2 NP_009130.2 interleukin-1 receptor-associated kinase 3 NA NA breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GTTTTGTATCTGTCTTCCCGT 0.358 NA T||| 929 0.185503 0.0121 0.255 5008 , , NA 16575 0.2837 NA 0.2177 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF113136 CCDS8975.1, CCDS44937.1 12q13.13 2008-05-02 ENSG00000090376 ENSG00000090376 11213 17020 protein-coding gene gene with protein product 604459 NA 10383454 Standard NM_001142523 NA Approved IRAK-M uc001sth.3 Q9Y616 OTTHUMG00000169002 ENST00000261233.4:c.*5255T>C chr12.hg19:g.66647206T>C NA hg19 CCDS8975.1 0.02 7.270422 ATCxGTC COVERED NOVEL IRAK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401908.1 2 10.530841 KEEP 0 0 0 35 1103 TT 0.999999 0.999999 0 + 9 60 313 0 0 18.790335 240 60 9001 347 ENST00000261233.4 0.036145 1 HELB 92797 __UNKNOWN__ __UNKNOWN__ 12 66718973 66718973 __UNKNOWN__ Intron SNP C C G rs10878408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:66718973C>G ENST00000247815.4 + 11 2729 NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B NA NA DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269) ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GCATTGTTTTCGTAAATTTTT 0.333 NA C||| 483 0.0964457 0.1513 0.0303 5008 , , NA 18216 0.1558 NA 0.0189 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF319995 CCDS8976.1 12q14.2 2009-01-15 ENSG00000127311 ENSG00000127311 92797 17196 protein-coding gene gene with protein product 614539 NA 12181327 Standard NM_033647 NA Approved uc001sti.3 Q8NG08 OTTHUMG00000169006 ENST00000247815.4:c.2670+67C>G chr12.hg19:g.66718973C>G NA A8K4C9|Q4G0T2|Q9H7L5 hg19 CCDS8976.1 0.02 2.560947 TTTxGTA COVERED NOVEL HELB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401919.1 3 2.40644 KEEP 0 0 0 8 241 CC 0.99257 0.980603 0 + 4 60 149 0 0 10.428138 56 60 1807 69 ENST00000247815.4 0.066667 0.987943 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69082805 69082805 __UNKNOWN__ 5'UTR SNP G G A rs2259588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69082805G>A ENST00000539906.1 + 0 201 NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000229179.4_Silent_p.R24R P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GGACTGCACGGAAACAGAGTG 0.383 NA G||| 1105 0.220647 0.0582 0.2983 5008 , , NA 18358 0.3065 NA 0.2903 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 G 404,4002 200.4+/-223.7 20,364,1819 140 132 135 72 -1.5 0.9 12 dbSNP_100 135 2322,6278 390.4+/-343.3 314,1694,2292 no coding-synonymous NUP107 NM_020401.2 334,2058,4111 AA,AG,GG 27.0,9.1693,20.9596 24/926 69082805 2726,10280 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.-44G>A chr12.hg19:g.69082805G>A NA B4DZ67|Q6PJE1 hg19 0.02 8.791605 ACGxAAA COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 3 36.419218 KEEP 0 0 0 121 4327 GG 1 1 0 + 9 60 334 0 0 21.527025 203 60 7652 446 ENST00000539906.1 0.042453 1 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69083237 69083237 __UNKNOWN__ Intron SNP A A G rs2546509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69083237A>G ENST00000539906.1 + 3 229 NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CATAATTTGTATAGTAAAAAG 0.294 NA A||| 1123 0.224241 0.0582 0.2983 5008 , , NA 17420 0.3244 NA 0.2903 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.-15-76A>G chr12.hg19:g.69083237A>G NA B4DZ67|Q6PJE1 hg19 0.02 18.681579 TGTxTAG COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 1 19.252815 KEEP 0 0 0 64 1918 AA 1 1 0 + 14 60 532 0 0 33.176307 410 60 14539 513 ENST00000539906.1 0.033019 1 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69090754 69090754 __UNKNOWN__ Intron SNP A A G rs2701088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69090754A>G ENST00000539906.1 + 6 709 NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TTTAGTTTTCATAAACAGCAT 0.398 NA A||| 1145 0.228634 0.059 0.2968 5008 , , NA 18801 0.3185 NA 0.2922 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 A 264,2390 15,234,1078 61 61 61 -3.1 0 12 dbSNP_100 61 1251,3367 162,927,1220 no intron NUP107 NM_020401.2 177,1161,2298 GG,GA,AA 27.0896,9.9472,20.8333 69090754 1515,5757 1327 2309 3636 SO:0001627 intron_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.465+52A>G chr12.hg19:g.69090754A>G NA B4DZ67|Q6PJE1 hg19 0.02 21.621232 TTCxTAA COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 2 21.360665 KEEP 0 0 0 71 2169 AA 1 1 0 + 18 60 628 0 0 37.654126 512 60 19108 707 ENST00000539906.1 0.033962 1 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69125513 69125513 __UNKNOWN__ Intron SNP G G T rs7976871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69125513G>T ENST00000539906.1 + 22 2155 NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) ATTTGGGATGGGGGGGCAGAG 0.378 NA G||| 1103 0.220248 0.059 0.3012 5008 , , NA 13694 0.2986 NA 0.2922 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 G 233,4173 18,197,1988 37 39 38 -0.3 0 12 dbSNP_116 38 1310,7290 279,752,3269 no intron NUP107 NM_020401.2 297,949,5257 TT,TG,GG 15.2326,5.2882,11.8638 69125513 1543,11463 2203 4300 6503 SO:0001627 intron_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.1911+14G>T chr12.hg19:g.69125513G>T NA B4DZ67|Q6PJE1 hg19 0.02 6.237414 ATGxGGG COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 1 10.233507 KEEP 0 0 0 34 1215 GG 0.999998 0.999998 0 + 7 60 253 0 0 15.899391 167 60 6186 264 ENST00000539906.1 0.04023 1 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69125514 69125514 __UNKNOWN__ Intron SNP G G T rs7976876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69125514G>T ENST00000539906.1 + 22 2155 NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TTTGGGATGGGGGGGCAGAGG 0.378 NA G||| 1103 0.220248 0.059 0.3012 5008 , , NA 13689 0.2986 NA 0.2922 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 G 225,4181 18,189,1996 36 38 37 -4.4 0 12 dbSNP_116 37 1279,7321 276,727,3297 no intron NUP107 NM_020401.2 294,916,5293 TT,TG,GG 14.8721,5.1067,11.5639 69125514 1504,11502 2203 4300 6503 SO:0001627 intron_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.1911+15G>T chr12.hg19:g.69125514G>T NA B4DZ67|Q6PJE1 hg19 0.02 6.347429 TGGxGGG COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 1 10.23348 KEEP 0 0 0 34 1214 GG 0.999998 0.999998 0 + 7 60 260 0 0 16.619012 166 60 6052 261 ENST00000539906.1 0.040462 1 NUP107 57122 __UNKNOWN__ __UNKNOWN__ 12 69125578 69125578 __UNKNOWN__ Intron SNP C C T rs7976687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69125578C>T ENST00000539906.1 + 22 2155 NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron P57740 NU107_HUMAN nucleoporin 107kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634) nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CTTCTCCCTTCGTAAAAGAAG 0.348 NA C||| 1104 0.220447 0.059 0.3026 5008 , , NA 13020 0.2986 NA 0.2922 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055629 CCDS8985.1 12q14 2004-03-19 ENSG00000111581 ENSG00000111581 57122 29914 protein-coding gene gene with protein product 607617 NA 12552102, 12705868 Standard NM_020401 XM_005269037 NA Approved NUP84 uc001suf.3 P57740 OTTHUMG00000169265 ENST00000539906.1:c.1911+79C>T chr12.hg19:g.69125578C>T NA B4DZ67|Q6PJE1 hg19 0.02 1.726143 CTTxGTA COVERED NOVEL NUP107-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403200.1 2 3.61122 KEEP 0 0 0 12 388 CC 0.993634 0.993361 0 + 4 60 146 0 0 9.467225 83 60 2678 102 ENST00000539906.1 0.045977 0.999726 CPM 1368 __UNKNOWN__ __UNKNOWN__ 12 69265578 69265578 __UNKNOWN__ Silent SNP A A G rs2228654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69265578A>G ENST00000551568.1 - 4 477 c.417T>C c.(415-417)taT>taC p.Y139Y CPM_ENST00000546373.1_Silent_p.Y139Y|CPM_ENST00000338356.3_Silent_p.Y139Y NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 139 NA anatomical structure morphogenesis (GO:0009653) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270) large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) CGATGCTGTAATAACAGTCAG 0.463 NA A||| 2459 0.491014 0.3124 0.5879 5008 , , NA 23224 0.5179 NA 0.5825 False NA ,,, NA NA NA 2504 0.5419 NA NA NA NA 0 A ,, 1504,2902 480.6+/-358.9 254,996,953 160 146 151 417,417,417 1.5 0.8 12 dbSNP_98 151 4972,3628 625.1+/-397.7 1430,2112,758 no coding-synonymous,coding-synonymous,coding-synonymous CPM NM_001005502.2,NM_001874.4,NM_198320.3 ,, 1684,3108,1711 GG,GA,AA 42.186,34.1353,49.7924 ,, 139/444,139/444,139/444 69265578 6476,6530 2203 4300 6503 SO:0001819 synonymous_variant AF368463 CCDS8987.1 12q15 2012-02-10 ENSG00000135678 ENSG00000135678 1368 3.4.17.12 2311 protein-coding gene gene with protein product renal carboxypeptidase, urinary carboxypeptidase B 114860 NA 8586455 Standard NM_198320 NM_001874 NA Approved uc001suq.3 P14384 OTTHUMG00000169300 ENST00000551568.1:c.417T>C chr12.hg19:g.69265578A>G NA B2R800|Q9H2K9 hg19 CCDS8987.1 0.02 16.498196 GTAxTAA COVERED NOVEL CPM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403355.1 3 31.898344 KEEP 0 0 0 106 3402 AA 1 1 0 - 17 60 630 0 0 41.101356 361 60 13170 602 ENST00000551568.1 0.044974 1 FRS2 10818 __UNKNOWN__ __UNKNOWN__ 12 69973347 69973347 __UNKNOWN__ 3'UTR SNP T T C rs3202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:69973347T>C ENST00000550389.1 + 0 6385 FRS2_ENST00000397997.2_3'UTR|FRS2_ENST00000299293.2_3'UTR NM_001278353.1|NM_001278357.1 NP_001265282.1|NP_001265286.1 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281) cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TGACTTTGGATTTTGCAATGC 0.328 NA T||| 555 0.110823 0.0741 0.085 5008 , , NA 18137 0.3313 NA 0.0258 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF036717 CCDS41809.1 12q15 2008-02-05 ENSG00000166225 10818 16971 protein-coding gene gene with protein product 607743 NA 8761293, 9660748 Standard NM_006654 NM_001278351 NA Approved SNT-1, FRS2alpha, SNT1, FRS2A uc001suz.3 Q8WU20 ENST00000550389.1:c.*4612T>C chr12.hg19:g.69973347T>C NA B0LPF2|B2R684|O43558|Q7LDQ6 hg19 CCDS41809.1 0.02 10.39834 GGAxTTT COVERED NOVEL FRS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403760.1 0 9.629443 KEEP 0 0 0 32 1044 TT 0.999997 0.999997 0 + 8 60 290 0 0 17.218196 259 60 9257 316 ENST00000550389.1 0.029963 1 RAB3IP 117177 __UNKNOWN__ __UNKNOWN__ 12 70210911 70210911 __UNKNOWN__ 3'UTR SNP C C T rs12811715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:70210911C>T ENST00000247833.7 + 0 3444 RAB3IP_ENST00000551641.1_3'UTR|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000550536.1_3'UTR RAB3A interacting protein NA NA NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) AGATACTGTACGGTTTGAAAG 0.294 NA A||| 953 0.190296 0.0333 0.317 5008 , , NA 17373 0.2222 NA 0.2783 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1 12q15 2013-01-22 2013-01-22 ENSG00000127328 ENSG00000127328 117177 16508 protein-coding gene gene with protein product rabin3 608686 NA Standard NM_022456 NM_175623 NA Approved RABIN3 uc001svm.3 Q96QF0 OTTHUMG00000169437 ENST00000247833.7:c.*1685C>T chr12.hg19:g.70210911C>T NA hg19 CCDS8995.1 0.02 6.554487 GTAxGGT COVERED NOVEL RAB3IP-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280671.2 1 7.558449 KEEP 0 1 31 36 1211 CC 1 1 0 + 12 60 449 0 0 31.728018 160 60 5614 243 ENST00000247833.7 0.069767 1 AC025263.3 0 __UNKNOWN__ __UNKNOWN__ 12 70212497 70212497 __UNKNOWN__ Intron SNP A A C rs550835980|rs10879020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:70212497A>C ENST00000550437.1 + 3 223 RAB3IP_ENST00000550536.1_3'UTR NA NA NA tacttttcttataaaagtcaa 0.323 NA A||| 954 0.190495 0.0333 0.317 5008 , , NA 19836 0.2222 NA 0.2783 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000550437.1:c.223+5684A>C chr12.hg19:g.70212497A>C NA hg19 0.02 8.999978 CTTxTAA COVERED NOVEL AC025263.3-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000403924.1 1 4.210274 KEEP 0 0 0 14 415 AA 0.995343 0.995343 0 + 8 60 305 0 0 19.544444 203 60 7343 247 ENST00000550437.1 0.037915 1 MYRFL 196446 __UNKNOWN__ __UNKNOWN__ 12 70330087 70330087 __UNKNOWN__ Silent SNP A A G rs813147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:70330087A>G ENST00000552032.2 + 18 2230 c.2016A>G c.(2014-2016)ccA>ccG p.P672P RP11-611E13.2_ENST00000549419.1_RNA|MYRFL_ENST00000299350.4_Silent_p.P37P|MYRFL_ENST00000535034.1_Silent_p.P37P|MYRFL_ENST00000547771.2_Silent_p.P661P Q96LU7 MRFL_HUMAN myelin regulatory factor-like 672 NA integral component of membrane (GO:0016021) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA CACAGGAGCCAGCTCTGCTGC 0.453 NA G||| 3500 0.698882 0.6256 0.6902 5008 , , NA 16679 0.7669 NA 0.8231 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK057785 12q15 2012-12-19 2012-12-19 2012-12-19 ENSG00000166268 ENSG00000166268 196446 26316 protein-coding gene gene with protein product chromosome 12 open reading frame 15, chromosome 12 open reading frame 28 C12orf15, C12orf28 NA Standard NM_182530 XM_006709961 NA Approved FLJ25056, bcm1377 Q96LU7 OTTHUMG00000169438 ENST00000552032.2:c.2016A>G chr12.hg19:g.70330087A>G NA hg19 0.02 9.0017 GCCxGCT COVERED 1645 0.7532051282051282 318 0.6463414634146342 262 0.7237569060773481 437 0.763986013986014 628 0.8284960422163589 G 4.912 0.169551 0.09339 . . ENSG00000166268 ENST00000548892 . . . 5.91 -11.8 0.00035 . . . . . T 0.00012 0.0000 . . . 0.58432 P 5.999999999950489E-6 . . . . . . T 0.20042 -1.0287 3 . . . -1.3017 2.4269 0.04461 0.2034:0.255:0.3417:0.1999 rs813147;rs1240237;rs1240354;rs1688806 . . . R 137 . . Q + 2 0 C12orf28 68616354 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.275000 0.01162 -5.199000 0.00019 -3.336000 0.00043 CAG NOVEL MYRFL-004 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000404016.2 1 14.728342 KEEP 0 0 0 49 1529 AA 1 1 0 + 13 60 466 0 0 30.742865 232 60 8601 362 ENST00000552032.2 0.053061 1 MYRFL 196446 __UNKNOWN__ __UNKNOWN__ 12 70351684 70351684 __UNKNOWN__ Missense_Mutation SNP C C A rs10879065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:70351684C>A ENST00000552032.2 + 23 2747 c.2533C>A c.(2533-2535)Ctg>Atg p.L845M RP11-611E13.2_ENST00000549419.1_RNA|MYRFL_ENST00000299350.4_Missense_Mutation_p.L210M|MYRFL_ENST00000535034.1_Missense_Mutation_p.L185M|MYRFL_ENST00000547771.2_Missense_Mutation_p.L833M Q96LU7 MRFL_HUMAN myelin regulatory factor-like 845 NA L -> M (in dbSNP:rs10879065). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA AACCAAAGGGCTGGAAAGCCA 0.448 NA A||| 1621 0.323682 0.1112 0.4121 5008 , , NA 20827 0.4891 NA 0.3499 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK057785 12q15 2012-12-19 2012-12-19 2012-12-19 ENSG00000166268 ENSG00000166268 196446 26316 protein-coding gene gene with protein product chromosome 12 open reading frame 15, chromosome 12 open reading frame 28 C12orf15, C12orf28 NA Standard NM_182530 XM_006709961 NA Approved FLJ25056, bcm1377 Q96LU7 OTTHUMG00000169438 ENST00000552032.2:c.2533C>A chr12.hg19:g.70351684C>A ENSP00000448753:p.Leu845Met NA hg19 0.02 6.117895 GGGxTGG COVERED 761 0.3484432234432234 72 0.14634146341463414 145 0.4005524861878453 283 0.49475524475524474 261 0.34432717678100266 A 0.279 -0.987781 0.02162 . . ENSG00000166268 ENST00000552032;ENST00000299350;ENST00000535034 T;T 0.45276 0.9;0.9 5.5 0.696 0.18075 . 2.033730 0.01596 N 0.021786 T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.45264 -0.9273 8 0.28530 T 0.3 2.7908 6.4397 0.21843 0.5193:0.1301:0.3505:0.0 rs10879065;rs61443455;rs10879065 185;549 F5GYH9;F8VY44 .;. M 549;210;185 ENSP00000299350:L210M;ENSP00000440626:L185M ENSP00000299350:L210M L + 1 2 C12orf28 68637951 0.000000 0.05858 0.000000 0.03702 0.062000 0.15995 0.064000 0.14437 -0.251000 0.09542 -0.256000 0.11100 CTG NOVEL MYRFL-004 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000404016.2 2 7.524506 KEEP 0 0 0 25 899 CC 0.999931 0.999931 0 + 8 60 290 0 0 18.254845 191 60 7305 278 ENST00000552032.2 0.040201 1 MYRFL 196446 __UNKNOWN__ __UNKNOWN__ 12 70352021 70352021 __UNKNOWN__ Intron SNP C C T rs2307087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:70352021C>T ENST00000552032.2 + 24 2785 RP11-611E13.2_ENST00000549419.1_RNA|MYRFL_ENST00000299350.4_Intron|MYRFL_ENST00000535034.1_Intron|MYRFL_ENST00000547771.2_Intron Q96LU7 MRFL_HUMAN myelin regulatory factor-like NA NA integral component of membrane (GO:0016021) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) NA CTTTTATTCACTATTTAGGGA 0.433 NA T||| 1943 0.387979 0.351 0.415 5008 , , NA 20579 0.4812 NA 0.4274 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057785 12q15 2012-12-19 2012-12-19 2012-12-19 ENSG00000166268 ENSG00000166268 196446 26316 protein-coding gene gene with protein product chromosome 12 open reading frame 15, chromosome 12 open reading frame 28 C12orf15, C12orf28 NA Standard NM_182530 XM_006709961 NA Approved FLJ25056, bcm1377 Q96LU7 OTTHUMG00000169438 ENST00000552032.2:c.2572-8C>T chr12.hg19:g.70352021C>T NA hg19 0.02 8.675106 TCAxTAT COVERED NOVEL MYRFL-004 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000404016.2 1 9.932607 KEEP 0 0 0 33 1202 CC 0.999998 0.999998 0 + 16 60 600 0 0 41.874686 232 60 8881 356 ENST00000552032.2 0.064516 1 CNOT2 4848 __UNKNOWN__ __UNKNOWN__ 12 70740194 70740194 __UNKNOWN__ Intron SNP G G A rs3817487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:70740194G>A ENST00000418359.3 + 16 1987 CNOT2_ENST00000229195.3_Intron|CNOT2_ENST00000551483.1_Intron NM_001199302.1 NP_001186231.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 NA NA gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829) CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) AATACATCCAGTTCCAGTAAT 0.343 NA g||| 2857 0.570487 0.7542 0.634 5008 , , NA 17689 0.4613 NA 0.4692 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF180473 CCDS31857.1 12q15 2008-05-14 ENSG00000111596 4848 7878 protein-coding gene gene with protein product 604909 NOT2 NA 10637334 Standard NM_014515 NA Approved CDC36, NOT2H uc001svv.3 Q9NZN8 ENST00000418359.3:c.1536+90G>A chr12.hg19:g.70740194G>A NA Q9H3E0|Q9NSX5|Q9NWR6|Q9P028 hg19 CCDS31857.1 0.02 6.264616 CCAxTTC COVERED NOVEL CNOT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404260.1 1 3.310179 KEEP 0 0 0 11 366 GG 0.993072 0.993072 0 + 8 60 294 0 0 19.192795 163 60 6039 186 ENST00000418359.3 0.046784 1 PTPRB 5787 __UNKNOWN__ __UNKNOWN__ 12 71029431 71029431 __UNKNOWN__ Intron SNP C C T rs2717417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:71029431C>T ENST00000550358.1 - 2 477 PTPRB_ENST00000538174.2_Intron|PTPRB_ENST00000334414.6_Intron|PTPRB_ENST00000551525.1_Intron P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B NA NA angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCAGGATTTGCTCTGAAAGGA 0.373 NA T||| 2342 0.467652 0.7156 0.3977 5008 , , NA 18694 0.5218 NA 0.1223 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 T 2236,1454 687,862,296 54 51 52 0.9 0 12 dbSNP_100 52 1307,6891 96,1115,2888 no intron PTPRB NM_001109754.2 783,1977,3184 TT,TC,CC 15.9429,39.4038,29.8032 71029431 3543,8345 1845 4099 5944 SO:0001627 intron_variant X54131 CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1 12q15-q21 2013-02-11 5787 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9665 protein-coding gene gene with protein product 176882 PTPB NA 2169617 Standard NM_001109754 NA Approved uc001swc.4 P23467 OTTHUMG00000169499 ENST00000550358.1:c.451+19G>A chr12.hg19:g.71029431C>T NA B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7 hg19 0.02 6.203065 TTGxTCT COVERED NOVEL PTPRB-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404436.1 0 4.815666 KEEP 0 0 0 16 573 CC 0.997832 0.997832 0 - 6 60 214 0 0 12.876876 172 60 6462 231 ENST00000550358.1 0.033708 1 PTPRB 5787 __UNKNOWN__ __UNKNOWN__ 12 71029733 71029733 __UNKNOWN__ Missense_Mutation SNP C C T rs2584021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:71029733C>T ENST00000550358.1 - 2 194 c.169G>A c.(169-171)Gat>Aat p.D57N PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Missense_Mutation_p.D57N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D56N P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470) integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCTTTTCATCCTCAGTCCAC 0.527 NA C||| 1271 0.253794 0.2436 0.3026 5008 , , NA 16560 0.4028 NA 0.0547 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 C ASN/ASP 761,3317 68,625,1346 87 88 88 169 3.9 1 12 dbSNP_100 88 586,7772 20,546,3613 yes missense PTPRB NM_001109754.2 23 88,1171,4959 TT,TC,CC 7.0112,18.6611,10.8315 possibly-damaging 57/2216 71029733 1347,11089 2039 4179 6218 SO:0001583 missense X54131 CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1 12q15-q21 2013-02-11 5787 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing 9665 protein-coding gene gene with protein product 176882 PTPB NA 2169617 Standard NM_001109754 NA Approved uc001swc.4 P23467 OTTHUMG00000169499 ENST00000550358.1:c.169G>A chr12.hg19:g.71029733C>T ENSP00000448058:p.Asp57Asn NA B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7 hg19 0.02 8.34394 CATxCTC COVERED 484 0.2216117216117216 128 0.2601626016260163 83 0.2292817679558011 234 0.4090909090909091 39 0.051451187335092345 C 15.77 2.930632 0.52866 0.186611 0.070112 ENSG00000127329 ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122 T;T;T;T 0.33654 1.74;1.74;1.74;1.4 5.82 3.92 0.45320 . . . . . T 0.00012 0.0000 N 0.17082 0.46 0.09310 P 1.0 B;B;B;B;B 0.24258 0.004;0.1;0.006;0.006;0.006 B;B;B;B;B 0.26094 0.004;0.066;0.009;0.005;0.005 T 0.44467 -0.9326 8 0.46703 T 0.11 . 11.1575 0.48497 0.0:0.8422:0.0:0.1578 rs2584021;rs56726799;rs2584021 57;57;56;57;57 Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;F8VU56 .;.;.;.;. N 57;57;57;56;57 ENSP00000334928:D57N;ENSP00000448058:D57N;ENSP00000448349:D56N;ENSP00000446982:D57N ENSP00000334928:D57N D - 1 0 PTPRB 69316000 0.717000 0.27966 0.959000 0.39883 0.965000 0.64279 0.943000 0.29030 0.714000 0.32081 0.563000 0.77884 GAT NOVEL PTPRB-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404436.1 2 12.94149 KEEP 0 0 0 43 1504 CC 1 1 0 - 8 60 280 0 0 16.787445 220 60 8130 332 ENST00000550358.1 0.035088 1 PTPRR 5801 __UNKNOWN__ __UNKNOWN__ 12 71054946 71054946 __UNKNOWN__ Intron SNP C C A rs75405399 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:71054946C>A ENST00000342084.4 - 11 1418 PTPRR_ENST00000549308.1_Intron|PTPRR_ENST00000440835.2_Intron|PTPRR_ENST00000378778.1_Intron|PTPRR_ENST00000537619.2_Intron|PTPRR_ENST00000283228.2_Intron NM_001207015.1 NP_001193944.1 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R NA NA ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AACCACAATACTGAATGCCTT 0.388 NA C||| 535 0.106829 0.0726 0.0346 5008 , , NA 16537 0.2669 NA 0.0119 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D64053 CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1 12q15 2011-10-07 ENSG00000153233 ENSG00000153233 5801 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like 9680 protein-coding gene gene with protein product 602853 PTPRQ NA 7557444, 10393441 Standard NM_002849 NM_002849 NA Approved PTPBR7, PTP-SL, EC-PTP, PCPTP1 uc001swi.2 Q15256 OTTHUMG00000169502 ENST00000342084.4:c.1273-69G>T chr12.hg19:g.71054946C>A NA B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65 hg19 CCDS55848.1 0.02 12.184577 ATAxTGA COVERED NOVEL PTPRR-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000404486.1 2 16.252532 KEEP 0 0 0 54 1951 CC 1 1 0 - 11 60 395 0 0 23.573113 336 60 12827 498 ENST00000342084.4 0.0317 1 LGR5 8549 __UNKNOWN__ __UNKNOWN__ 12 71978728 71978728 __UNKNOWN__ 3'UTR SNP G G A rs17109926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:71978728G>A ENST00000266674.5 + 0 3249 O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263) integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588) G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TTCAGCTAAGGGATAGATCGA 0.318 NA G||| 1007 0.201078 0.1377 0.1643 5008 , , NA 19579 0.3562 NA 0.1879 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF062006 CCDS9000.1, CCDS61194.1, CCDS61195.1 12q22-q23 2012-08-21 2011-01-25 2004-11-12 8549 GPCR / Class A : Orphans 4504 protein-coding gene gene with protein product 606667 G protein-coupled receptor 49, leucine-rich repeat-containing G protein-coupled receptor 5 GPR67, GPR49 NA 9642114 Standard NM_003667 NM_003667 NA Approved HG38, FEX uc001swl.4 O75473 OTTHUMG00000169543 ENST00000266674.5:c.*214G>A chr12.hg19:g.71978728G>A NA D8MCT0|Q4VAM0|Q4VAM2|Q9UP75 hg19 CCDS9000.1 0.02 6.178915 AAGxGAT COVERED NOVEL LGR5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404744.1 3 10.232922 KEEP 0 0 0 34 1192 GG 0.999998 0.999998 0 + 6 60 213 0 0 13.0927 152 60 5513 237 ENST00000266674.5 0.037975 1 ZFC3H1 196441 __UNKNOWN__ __UNKNOWN__ 12 72018028 72018028 __UNKNOWN__ Silent SNP A A G rs2304272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:72018028A>G ENST00000378743.3 - 23 4720 c.4362T>C c.(4360-4362)tgT>tgC p.C1454C NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1454 NA RNA processing (GO:0006396) extracellular space (GO:0005615)|intracellular (GO:0005622) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ACATTCTCTCACATACGTAAT 0.388 NA A||| 277 0.0553115 0.0008 0.0216 5008 , , NA 19106 0.1776 NA 0.0646 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 A 42,3632 0,42,1795 207 203 204 4362 5.3 1 12 dbSNP_100 204 405,7781 10,385,3698 no coding-synonymous ZFC3H1 NM_144982.4 10,427,5493 GG,GA,AA 4.9475,1.1432,3.769 1454/1990 72018028 447,11413 1837 4093 5930 SO:0001819 synonymous_variant AB011118 CCDS41813.1 12q21.1 2013-01-25 2008-10-01 2008-10-01 ENSG00000133858 196441 Zinc finger, C3H1-type containing 28328 protein-coding gene gene with protein product proline/serine-rich coiled-coil 2, coiled-coil domain containing 131 PSRC2, CCDC131 NA 9628581 Standard NM_144982 NM_144982 NA Approved MGC23401, KIAA0546 uc001swo.2 O60293 OTTHUMG00000169545 ENST00000378743.3:c.4362T>C chr12.hg19:g.72018028A>G NA Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7 hg19 CCDS41813.1 0.02 4.655492 CTCxCAT COVERED NOVEL ZFC3H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404751.1 1 11.133464 KEEP 0 0 0 37 1160 AA 1 1 0 - 6 60 230 0 0 15.129091 133 60 4749 219 ENST00000378743.3 0.043165 1 THAP2 83591 __UNKNOWN__ __UNKNOWN__ 12 72058416 72058416 __UNKNOWN__ Intron SNP G G T rs3741691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:72058416G>T ENST00000547843.1 + 1 100 THAP2_ENST00000308086.2_Intron Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 NA NA nucleolus (GO:0005730) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 TGTGGCTATCGCTTGTGTGGA 0.488 NA G||| 2329 0.465056 0.5749 0.2478 5008 , , NA 19776 0.8204 NA 0.1541 False NA ,,, NA NA NA 2504 0.4243 NA NA NA NA 0 G 729,655 200,329,163 41 46 45 -0.8 0 12 dbSNP_107 45 433,2749 21,391,1179 no intron THAP2 NM_031435.3 221,720,1342 TT,TG,GG 13.6078,47.3266,25.449 72058416 1162,3404 692 1591 2283 SO:0001627 intron_variant BC008358 CCDS9001.1 12q21.1 2013-01-25 ENSG00000173451 83591 THAP (C2CH-type zinc finger) domain containing 20854 protein-coding gene gene with protein product 612531 NA 12575992 Standard NM_031435 NM_031435 NA Approved DKFZP564I0422 uc001swq.3 Q9H0W7 OTTHUMG00000169556 ENST00000547843.1:c.71+56G>T chr12.hg19:g.72058416G>T NA B2R8P3 hg19 0.02 11.078162 ATCxCTT COVERED NOVEL THAP2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404797.1 1 32.47789 KEEP 0 0 0 108 3757 GG 1 1 0 + 8 60 298 0 0 18.153949 249 60 8935 416 ENST00000547843.1 0.031128 1 RAB21 23011 __UNKNOWN__ __UNKNOWN__ 12 72164395 72164395 __UNKNOWN__ Silent SNP C C T rs3741688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:72164395C>T ENST00000261263.3 + 3 499 c.243C>T c.(241-243)ttC>ttT p.F81F NM_014999.2 NP_055814.1 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 81 NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) large_intestine(1)|lung(4)|prostate(1) 6 AAGAGAGATTCCATGCATTGG 0.353 NA C||| 804 0.160543 0.0454 0.219 5008 , , NA 12595 0.3105 NA 0.1074 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 C 237,4169 138.0+/-173.8 3,231,1969 82 84 83 243 3.1 1 12 dbSNP_107 83 772,7828 181.3+/-230.0 30,712,3558 no coding-synonymous RAB21 NM_014999.2 33,943,5527 TT,TC,CC 8.9767,5.379,7.758 81/226 72164395 1009,11997 2203 4300 6503 SO:0001819 synonymous_variant AF091035 CCDS9003.1 12q21.1 2014-09-04 ENSG00000080371 ENSG00000080371 23011 RAB, member RAS oncogene 18263 protein-coding gene gene with protein product 612398 NA 10887961, 11697911, 16754960 Standard NM_014999 NA Approved KIAA0118 uc001swt.3 Q9UL25 OTTHUMG00000169572 ENST00000261263.3:c.243C>T chr12.hg19:g.72164395C>T NA Q14466|Q569H3 hg19 CCDS9003.1 0.02 3.731875 ATTxCAT COVERED NOVEL RAB21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404855.1 2 9.086897 KEEP 0 1 10 34 1176 CC 0.999999 0.999998 0 + 7 60 246 0 0 15.835879 135 60 4587 241 ENST00000261263.3 0.049296 1 RAB21 23011 __UNKNOWN__ __UNKNOWN__ 12 72181306 72181306 __UNKNOWN__ 3'UTR SNP A A G rs12310799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:72181306A>G ENST00000261263.3 + 0 2787 NM_014999.2 NP_055814.1 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family NA NA GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) large_intestine(1)|lung(4)|prostate(1) 6 AAGAGATTATAGTTACAAAAG 0.308 NA A||| 1331 0.265775 0.2451 0.2925 5008 , , NA 16375 0.3621 NA 0.1471 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF091035 CCDS9003.1 12q21.1 2014-09-04 ENSG00000080371 ENSG00000080371 23011 RAB, member RAS oncogene 18263 protein-coding gene gene with protein product 612398 NA 10887961, 11697911, 16754960 Standard NM_014999 NA Approved KIAA0118 uc001swt.3 Q9UL25 OTTHUMG00000169572 ENST00000261263.3:c.*1853A>G chr12.hg19:g.72181306A>G NA Q14466|Q569H3 hg19 CCDS9003.1 0.02 6.160354 TATxGTT COVERED NOVEL RAB21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404855.1 0 7.823867 KEEP 0 0 0 26 823 AA 0.999957 0.999957 0 + 7 60 259 0 0 16.345883 176 60 6363 236 ENST00000261263.3 0.038251 1 TPH2 121278 __UNKNOWN__ __UNKNOWN__ 12 72425954 72425954 __UNKNOWN__ 3'UTR SNP G G A rs17110747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:72425954G>A ENST00000333850.3 + 0 2093 NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 NA NA aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|neuron projection (GO:0043005) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CAATAACAAAGGTTCAATATT 0.318 NA G||| 728 0.145367 0.0159 0.2118 5008 , , NA 19988 0.2361 NA 0.1421 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY098914 CCDS31859.1 12q15 2008-02-07 ENSG00000139287 121278 1.14.16.4 20692 protein-coding gene gene with protein product 607478 NA 12511643 Standard NM_173353 NM_173353 NA Approved NTPH, FLJ37295 uc009zrw.1 Q8IWU9 ENST00000333850.3:c.*479G>A chr12.hg19:g.72425954G>A NA A6NGA4|Q14CB0 hg19 CCDS31859.1 0.02 6.81402 AAAxGTT COVERED NOVEL TPH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405234.1 1 4.21343 KEEP 0 0 0 14 498 GG 0.995343 0.995343 0 + 10 60 359 0 0 23.726948 178 60 6555 233 ENST00000333850.3 0.053191 1 CAPS2 84698 __UNKNOWN__ __UNKNOWN__ 12 75692607 75692607 __UNKNOWN__ Intron SNP G G A rs7485576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:75692607G>A ENST00000393284.3 - 10 913 CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron Q9BXY5 CAYP2_HUMAN calcyphosine 2 NA NA calcium ion binding (GO:0005509) endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 AGCTTCTCTCGGAAGTGAACA 0.323 NA G||| 1263 0.252196 0.0272 0.2594 5008 , , NA 18995 0.3859 NA 0.3579 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 G 414,3992 204.5+/-226.7 16,382,1805 81 77 78 -4.7 0 12 dbSNP_116 78 3272,5328 487.1+/-372.0 631,2010,1659 no intron CAPS2 NM_032606.3 647,2392,3464 AA,AG,GG 38.0465,9.3963,28.3408 75692607 3686,9320 2203 4300 6503 SO:0001627 intron_variant AF251056 CCDS9008.2, CCDS66424.1, CCDS73497.1 12q14.1 2013-01-10 2005-05-09 ENSG00000180881 ENSG00000180881 84698 EF-hand domain containing 16471 protein-coding gene gene with protein product 607724 calcyphosphine 2 NA 11846421 Standard NM_032606 NA Approved uc001sxk.4 Q9BXY5 OTTHUMG00000152787 ENST00000393284.3:c.311+43C>T chr12.hg19:g.75692607G>A NA Q6PH84|Q8N242|Q8NAY5 hg19 0.02 4.06067 CTCxGAA COVERED NOVEL CAPS2-009 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000383833.2 0 6.019043 KEEP 0 0 0 20 685 GG 0.999863 0.999863 0 - 7 60 263 0 0 17.361106 143 60 4929 201 ENST00000393284.3 0.046667 1 CAPS2 84698 __UNKNOWN__ __UNKNOWN__ 12 75706720 75706720 __UNKNOWN__ Intron SNP T T C rs60971359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:75706720T>C ENST00000393284.3 - 7 554 CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409445.3_Intron|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Intron Q9BXY5 CAYP2_HUMAN calcyphosine 2 NA NA calcium ion binding (GO:0005509) endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 TAAAGACAACTTCACCATCCA 0.338 NA T||| 1461 0.291733 0.1324 0.2579 5008 , , NA 14289 0.4395 NA 0.3847 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 T 228,1156 21,186,485 72 64 66 -5.3 0 12 dbSNP_129 66 1259,1923 244,771,576 no intron CAPS2 NM_032606.3 265,957,1061 CC,CT,TT 39.5663,16.474,32.5668 75706720 1487,3079 692 1591 2283 SO:0001627 intron_variant AF251056 CCDS9008.2, CCDS66424.1, CCDS73497.1 12q14.1 2013-01-10 2005-05-09 ENSG00000180881 ENSG00000180881 84698 EF-hand domain containing 16471 protein-coding gene gene with protein product 607724 calcyphosphine 2 NA 11846421 Standard NM_032606 NA Approved uc001sxk.4 Q9BXY5 OTTHUMG00000152787 ENST00000393284.3:c.48-25A>G chr12.hg19:g.75706720T>C NA Q6PH84|Q8N242|Q8NAY5 hg19 0.02 18.327024 AACxTCA COVERED NOVEL CAPS2-009 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000383833.2 3 15.949677 KEEP 0 0 0 53 1720 TT 1 1 0 - 16 60 586 0 0 36.486044 426 60 15418 604 ENST00000393284.3 0.036199 1 GLIPR1L1 256710 __UNKNOWN__ __UNKNOWN__ 12 75760742 75760742 __UNKNOWN__ Intron SNP G G A rs12366348 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:75760742G>A ENST00000312442.2 + 5 656 GLIPR1L1_ENST00000548623.1_3'UTR|GLIPR1L1_ENST00000378695.4_Intron|CAPS2_ENST00000442339.2_Intron NM_152779.2 NP_689992.1 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 NA NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224) endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 cacccaaggggcagcttgcag 0.438 NA G||| 1336 0.266773 0.0605 0.245 5008 , , NA 17953 0.4375 NA 0.3767 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC014603 CCDS9009.1 12q21.1 2014-06-03 ENSG00000173401 256710 28392 protein-coding gene gene with protein product 610395 NA 12477932 Standard NM_152779 NM_152779 NA Approved MGC26856 uc001sxn.3 Q6UWM5 OTTHUMG00000169755 ENST00000312442.2:c.611-3123G>A chr12.hg19:g.75760742G>A NA Q96L06 hg19 CCDS9009.1 0.02 1.889476 GGGxCAG COVERED 672 0.3076923076923077 20 0.04065040650406504 103 0.2845303867403315 256 0.44755244755244755 293 0.3865435356200528 G 4.091 0.014927 0.07959 . . ENSG00000173401 ENST00000547144 . . . 0.113 0.113 0.14631 . . . . . T 0.00012 0.0000 . . . 0.58432 P 9.99999999995449E-6 . . . . . . T 0.46247 -0.9205 3 0.87932 D 0 . . . . rs12366348;rs12366348 . . . D 9 . ENSP00000450311:G9D G + 2 0 GLIPR1L1 74047009 0.165000 0.22948 0.262000 0.24481 0.267000 0.26476 0.248000 0.18198 0.183000 0.20059 0.186000 0.17326 GGC NOVEL GLIPR1L1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000405715.1 0 8.427395 KEEP 0 0 0 28 995 GG 0.999997 0.999859 0 + 7 60 252 0 0 17.825161 84 60 3105 162 ENST00000312442.2 0.076923 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 75784773 75784773 __UNKNOWN__ IGR SNP C C T rs7978856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:75784773C>T NA NA CAPS2 (72 upstream) : GLIPR1L2 (76 downstream) NA NA NA cTTTGTTTTTCCCTCCTCCCT 0.632 NA C||| 1607 0.320887 0.2254 0.2608 5008 , , NA 13268 0.4673 NA 0.3767 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.75784773C>T NA hg19 0.02 7.739903 TTTxCCT COVERED NOVEL 0 1 15.681531 KEEP 0 1 22 60 2023 CC 1 1 0 12 60 414 0 0 27.240628 195 60 7067 288 0.057971 1 GLIPR1L2 144321 __UNKNOWN__ __UNKNOWN__ 12 75785100 75785100 __UNKNOWN__ Silent SNP C C T rs11180483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:75785100C>T ENST00000550916.1 + 1 251 c.204C>T c.(202-204)gtC>gtT p.V68V GLIPR1L2_ENST00000435775.1_Silent_p.V68V|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000547164.1_Silent_p.V68V|GLIPR1L2_ENST00000378689.2_Silent_p.V68V|GLIPR1L2_ENST00000320460.4_Silent_p.V68V NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 68 SCP. NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 GGGGCGACGTCATTCCCCGAG 0.562 NA OREG0021999 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1614 0.322284 0.2254 0.2608 5008 , , NA 16266 0.4673 NA 0.3767 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 C 1207,3199 421.3+/-339.3 159,889,1155 108 82 91 204 0.8 0 12 dbSNP_120 91 3405,5195 503.3+/-375.9 686,2033,1581 no coding-synonymous GLIPR1L2 NM_152436.1 845,2922,2736 TT,TC,CC 39.593,27.3945,35.4606 68/254 75785100 4612,8394 2203 4300 6503 SO:0001819 synonymous_variant BC029557 CCDS9010.1, CCDS58258.1 12q21.1 2014-06-03 ENSG00000180481 144321 28592 protein-coding gene gene with protein product 610394 NA 12477932 Standard NM_152436 NM_001270396 NA Approved MGC39497 uc001sxr.2 Q4G1C9 OTTHUMG00000169756 ENST00000550916.1:c.204C>T chr12.hg19:g.75785100C>T 1163 Q6MZS1|Q8N6N0|Q8NA43 hg19 CCDS58258.1 0.02 10.686975 CGTxATT COVERED NOVEL GLIPR1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405718.1 2 49.226815 KEEP 0 2 58 184 6480 CC 1 1 0 + 15 60 536 0 0 35.109839 276 60 10305 625 ENST00000550916.1 0.051546 1 PHLDA1 22822 __UNKNOWN__ __UNKNOWN__ 12 76425476 76425476 __UNKNOWN__ Missense_Mutation SNP G G A rs3747549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:76425476G>A ENST00000266671.5 - 1 2236 c.46C>T c.(46-48)Ccc>Tcc p.P16S Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 16 NA apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065) cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) CACCGCGGGGGAAAGCCCAGC 0.692 NA G||| 252 0.0503195 0.0038 0.0245 5008 , , NA 12604 0.1012 NA 0.0716 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 G SER/PRO 30,3346 0,30,1658 2 3 3 46 3.3 1 12 dbSNP_107 3 342,7112 3,336,3388 yes missense PHLDA1 NM_007350.3 74 3,366,5046 AA,AG,GG 4.5881,0.8886,3.4349 probably-damaging 16/402 76425476 372,10458 1688 3727 5415 SO:0001583 missense Z50194 CCDS31861.1 12q15 2008-08-05 ENSG00000139289 22822 8933 protein-coding gene gene with protein product proline-histidine rich protein 605335 NA 12384558, 15037619 Standard NM_007350 NM_007350 NA Approved TDAG51, DT1P1B11, PHRIP uc001sxu.3 Q8WV24 ENST00000266671.5:c.46C>T chr12.hg19:g.76425476G>A ENSP00000266671:p.Pro16Ser NA A1A4G9|Q15184|Q2TAN2|Q9NZ17 hg19 CCDS31861.1 0.02 10.518889 GGGxAAA COVERED 118 0.05402930402930403 5 0.01016260162601626 10 0.027624309392265192 48 0.08391608391608392 55 0.07255936675461741 G 12.39 1.924899 0.34002 0.008886 0.045881 ENSG00000139289 ENST00000266671 T 0.42900 0.96 4.22 3.33 0.38152 . . . . . T 0.01592 0.0051 N 0.22421 0.69 0.27011 N 0.964685 B 0.14012 0.009 B 0.12156 0.007 T 0.05666 -1.0871 9 0.87932 D 0 . 9.2285 0.37421 0.1037:0.0:0.8963:0.0 rs3747549 16 Q8WV24 PHLA1_HUMAN S 16 ENSP00000266671:P16S ENSP00000266671:P16S P - 1 0 PHLDA1 74711743 0.991000 0.36638 0.999000 0.59377 0.564000 0.35744 0.182000 0.16900 1.116000 0.41820 0.491000 0.48974 CCC NOVEL PHLDA1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000405846.2 1 63.192516 KEEP 0 0 0 210 7335 GG 1 1 0 - 21 60 743 0 0 52.082519 255 60 9472 630 ENST00000266671.5 0.076087 1 NAP1L1 4673 __UNKNOWN__ __UNKNOWN__ 12 76442907 76442907 __UNKNOWN__ Intron SNP T T C rs11180815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:76442907T>C ENST00000261182.8 - 14 1627 NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000393263.3_Intron|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000547773.1_Intron|NAP1L1_ENST00000542344.1_Intron|NAP1L1_ENST00000544816.1_Intron NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 NA NA DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284) membrane (GO:0016020)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) GGAGAGAAACTTGATATTCAA 0.333 NA T||| 1256 0.250799 0.0098 0.2565 5008 , , NA 16811 0.5238 NA 0.167 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 T , 61,1323 2,57,633 134 114 120 , 1.8 0 12 dbSNP_120 120 596,2584 59,478,1053 no intron,intron NAP1L1 NM_004537.4,NM_139207.2 , 61,535,1686 CC,CT,TT 18.7421,4.4075,14.3953 , , 76442907 657,3907 692 1590 2282 SO:0001627 intron_variant CCDS9013.1 12q21.1 2010-03-17 ENSG00000187109 ENSG00000187109 4673 7637 protein-coding gene gene with protein product 164060 NA 8297347 Standard NM_139207 NM_004537 NA Approved NRP, NAP1, NAP1L, MGC8688, MGC23410 uc001sxx.2 P55209 ENST00000261182.8:c.1140+72A>G chr12.hg19:g.76442907T>C NA B3KNT8 hg19 CCDS9013.1 0.02 4.073934 AACxTGA COVERED NOVEL NAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405850.3 3 6.319937 KEEP 0 0 0 21 692 TT 0.999869 0.999869 0 - 6 60 220 0 0 14.167485 131 60 4757 167 ENST00000261182.8 0.043796 1 ZDHHC17 23390 __UNKNOWN__ __UNKNOWN__ 12 77209629 77209629 __UNKNOWN__ Intron SNP C C T rs61930508 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:77209629C>T ENST00000426126.2 + 7 1257 ZDHHC17_ENST00000359019.4_Intron|ZDHHC17_ENST00000334822.5_Intron NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 NA NA lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TTTTTTTTTCCTTTTCAGTGT 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 38 36 37 NA NA 12 NA 77209629 1831 4074 5905 SO:0001627 intron_variant AB023163 CCDS44946.1 12q21.2 2013-01-10 ENSG00000186908 23390 Zinc fingers, DHHC-type, Ankyrin repeat domain containing 18412 protein-coding gene gene with protein product 607799 NA 9700202, 18794299 Standard NM_015336 NM_015336 NA Approved HIP14, HYPH, KIAA0946 uc001syk.1 Q8IUH5 OTTHUMG00000169917 ENST00000426126.2:c.609-8C>T chr12.hg19:g.77209629C>T NA B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8 hg19 CCDS44946.1 0.02 1.6328 TTCxTTT COVERED NOVEL ZDHHC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406555.1 0 2.782771 KEEP 0 2 46 26 735 CC 0.999997 0.999997 0 + 11 60 190 1 0 7.963068 136 60 3502 199 ENST00000426126.2 0.07483 1 ZDHHC17 23390 __UNKNOWN__ __UNKNOWN__ 12 77246891 77246891 __UNKNOWN__ 3'UTR SNP G G C rs187083512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:77246891G>C ENST00000426126.2 + 0 4674 ZDHHC17_ENST00000334822.5_3'UTR NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 NA NA lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 GTGCAAAAGAGATGTCATTCA 0.328 NA G||| 8 0.00159744 0.0 0.0 5008 , , NA 18014 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023163 CCDS44946.1 12q21.2 2013-01-10 ENSG00000186908 23390 Zinc fingers, DHHC-type, Ankyrin repeat domain containing 18412 protein-coding gene gene with protein product 607799 NA 9700202, 18794299 Standard NM_015336 NM_015336 NA Approved HIP14, HYPH, KIAA0946 uc001syk.1 Q8IUH5 OTTHUMG00000169917 ENST00000426126.2:c.*2126G>C chr12.hg19:g.77246891G>C NA B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8 hg19 CCDS44946.1 0.02 6.423419 AGAxATG COVERED NOVEL ZDHHC17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406555.1 1 11.13542 KEEP 0 0 0 37 1268 GG 1 1 0 + 7 60 261 0 0 16.476352 180 60 6666 248 ENST00000426126.2 0.037433 1 CSRP2 1466 __UNKNOWN__ __UNKNOWN__ 12 77256681 77256681 __UNKNOWN__ Missense_Mutation SNP T T G rs2047227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:77256681T>G ENST00000552330.1 - 4 394 c.340A>C c.(340-342)Aat>Cat p.N114H CSRP2_ENST00000311083.5_Intron|CSRP2_ENST00000547435.1_Intron|CSRP2_ENST00000546966.1_Intron Q16527 CSRP2_HUMAN cysteine and glycine-rich protein 2 94 NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275) focal adhesion (GO:0005925)|nucleus (GO:0005634) zinc ion binding (GO:0008270) kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1) 8 GCTGTGAAATTGAAGTAAATA 0.378 NA G||| 2998 0.598642 0.6021 0.6542 5008 , , NA 17502 0.6835 NA 0.6074 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BC000992 CCDS9015.1 12q21.1 2005-10-30 ENSG00000175183 1466 2470 protein-coding gene gene with protein product 601871 NA 7499425, 9286703 Standard NM_001321 XM_006719258 NA Approved SmLIM, CRP2, LMO5 uc001syl.1 Q16527 ENST00000552330.1:c.340A>C chr12.hg19:g.77256681T>G ENSP00000449824:p.Asn114His NA Q93030 hg19 0.02 11.52763 AATxGAA COVERED 1426 0.6529304029304029 304 0.6178861788617886 238 0.6574585635359116 411 0.7185314685314685 473 0.6240105540897097 G 8.328 0.825953 0.16749 . . ENSG00000175183 ENST00000552330 T 0.68331 -0.32 3.91 -0.861 0.10676 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.40289 -0.9571 5 0.30854 T 0.27 . 4.6974 0.12811 0.3454:0.0:0.4174:0.2372 rs2047227;rs2071325;rs2234846;rs56590595;rs56793006;rs2047227 . . . H 114 ENSP00000449824:N114H ENSP00000449824:N114H N - 1 0 CSRP2 75780812 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -1.510000 0.02262 -0.760000 0.04677 -1.739000 0.00688 AAT NOVEL CSRP2-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406574.1 3 21.665 KEEP 0 0 0 72 2278 TT 1 1 0 - 12 60 446 0 0 29.38041 240 60 8833 397 ENST00000552330.1 0.047619 1 E2F7 144455 __UNKNOWN__ __UNKNOWN__ 12 77438376 77438376 __UNKNOWN__ Intron SNP C C G rs192814796 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:77438376C>G ENST00000322886.7 - 6 1224 E2F7_ENST00000416496.2_Intron NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 NA NA chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707) nucleus (GO:0005634)|transcription factor complex (GO:0005667) core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 GAAATCCCACCCTTTATGTGC 0.348 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 19335 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 111 108 109 NA NA 12 NA 77438376 2203 4300 6503 SO:0001627 intron_variant BC016658 CCDS9016.1 12q21.1 2008-02-05 ENSG00000165891 144455 23820 protein-coding gene gene with protein product 612046 NA 12893818 Standard XM_084871 NM_203394 NA Approved uc001sym.4 Q96AV8 OTTHUMG00000169969 ENST00000322886.7:c.988+40G>C chr12.hg19:g.77438376C>G NA A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9 hg19 CCDS9016.1 0.02 17.579069 CACxCTT COVERED NOVEL E2F7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406716.1 2 19.558401 KEEP 0 0 0 65 2259 CC 1 1 0 - 16 60 548 0 0 32.017727 463 60 16733 657 ENST00000322886.7 0.033403 1 NAV3 89795 __UNKNOWN__ __UNKNOWN__ 12 78571490 78571490 __UNKNOWN__ Intron SNP T T C rs958836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:78571490T>C ENST00000536525.2 + 27 5470 NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000397909.2_Intron NM_014903.4 NP_055718.4 Q8IVL0 NAV3_HUMAN neuron navigator 3 NA NA membrane (GO:0016020)|nuclear envelope (GO:0005635) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GATGCATGAATACTGCAAAGA 0.403 NA HNSCC(70;0.22) t||| 1200 0.239617 0.2837 0.2104 5008 , , NA 17596 0.2063 NA 0.2525 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 T 432,1320 60,312,504 49 43 45 2.2 0 12 dbSNP_86 45 958,3024 119,720,1152 no intron NAV3 NM_014903.4 179,1032,1656 CC,CT,TT 24.0583,24.6575,24.2414 78571490 1390,4344 876 1991 2867 SO:0001627 intron_variant AB023155 CCDS41815.1, CCDS66432.1 12q14.3 2008-08-05 ENSG00000067798 89795 15998 protein-coding gene gene with protein product pore membrane and/or filament interacting like protein 1, steerin 3 611629 NA 12079279, 12062803 Standard NM_001024383 XM_005269215 NA Approved KIAA0938, POMFIL1 uc001syo.3 Q8IVL0 OTTHUMG00000170001 ENST00000536525.2:c.5297+397T>C chr12.hg19:g.78571490T>C NA Q8NFW7|Q9Y2E7 hg19 CCDS41815.1 0.02 12.391291 GAAxACT COVERED NOVEL NAV3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000406811.1 0 11.869476 KEEP 0 1 36 52 1590 TT 1 1 0 + 16 60 622 0 0 43.846351 240 60 8685 384 ENST00000536525.2 0.0625 1 LIN7A 8825 __UNKNOWN__ __UNKNOWN__ 12 81329536 81329536 __UNKNOWN__ Intron SNP A A C rs2682818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:81329536A>C ENST00000552864.1 - 1 285 MIR618_ENST00000385287.1_RNA NM_004664.2 NP_004655.1 O14910 LIN7A_HUMAN lin-7 homolog A (C. elegans) NA NA exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489) basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923) L27 domain binding (GO:0097016) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CACAGGGTAAACCTGCTTGTC 0.393 NA C||| 3794 0.757588 0.6604 0.8818 5008 , , NA 16633 0.747 NA 0.8549 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 C 2193,943 769,655,144 95 79 84 -1 0 12 dbSNP_100 84 6136,1028 2626,884,72 no intron LIN7A NM_004664.2 3395,1539,216 CC,CA,AA 14.3495,30.0702,19.1359 81329536 8329,1971 1568 3582 5150 SO:0001627 intron_variant AF028826 CCDS9021.1 12q21.31 2014-09-04 ENSG00000111052 ENSG00000111052 8825 17787 protein-coding gene gene with protein product mammalian LIN-7 1 603380 NA 10341223, 17237226 Standard NM_004664 NA Approved MALS-1, TIP-33, LIN-7A, VELI1 uc001szj.1 O14910 OTTHUMG00000170168 ENST00000552864.1:c.82+1883T>G chr12.hg19:g.81329536A>C NA A4FTY3|Q147W1|Q6LES3|Q7LDS4 hg19 CCDS9021.1 0.02 6.675084 TAAxCCT COVERED NOVEL LIN7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407760.1 0 11.969831 KEEP 0 1 38 53 1632 AA 1 1 0 - 9 60 331 0 0 21.860226 172 60 6176 305 ENST00000552864.1 0.049724 1 LUM 4060 __UNKNOWN__ __UNKNOWN__ 12 91497272 91497272 __UNKNOWN__ 3'UTR SNP T T G rs3741836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:91497272T>G ENST00000266718.4 - 0 2141 NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican NA NA carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TCTATTGTTTTATGTATTTTA 0.284 NA T||| 432 0.086262 0.0144 0.0389 5008 , , NA 16566 0.2748 NA 0.0119 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BT006707 CCDS9038.1 12q21.33 2014-06-13 ENSG00000139329 4060 Proteoglycans / Extracellular Matrix : Small leucine-rich repeats 6724 protein-coding gene gene with protein product lumican proteoglycan 600616 LDC NA 7558030 Standard NM_002345 NM_002345 NA Approved SLRR2D uc001tbm.3 P51884 OTTHUMG00000170074 ENST00000266718.4:c.*670A>C chr12.hg19:g.91497272T>G NA B2R6R5|Q96QM7 hg19 CCDS9038.1 0.02 8.28709 TTTxATG COVERED NOVEL LUM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407150.2 6 16.245327 KEEP 0 0 0 54 1676 TT 1 1 0 - 7 60 258 0 0 15.618195 217 60 7802 327 ENST00000266718.4 0.03125 1 LUM 4060 __UNKNOWN__ __UNKNOWN__ 12 91497485 91497485 __UNKNOWN__ 3'UTR SNP A A G rs80228231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:91497485A>G ENST00000266718.4 - 0 1928 LUM_ENST00000548071.1_5'UTR NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican NA NA carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 AAGTGCATGAAGCTTCATGTA 0.294 NA G||| 432 0.086262 0.0144 0.0389 5008 , , NA 16721 0.2748 NA 0.0119 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BT006707 CCDS9038.1 12q21.33 2014-06-13 ENSG00000139329 4060 Proteoglycans / Extracellular Matrix : Small leucine-rich repeats 6724 protein-coding gene gene with protein product lumican proteoglycan 600616 LDC NA 7558030 Standard NM_002345 NM_002345 NA Approved SLRR2D uc001tbm.3 P51884 OTTHUMG00000170074 ENST00000266718.4:c.*457T>C chr12.hg19:g.91497485A>G NA B2R6R5|Q96QM7 hg19 CCDS9038.1 0.02 10.535361 TGAxGCT COVERED NOVEL LUM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407150.2 2 18.035269 KEEP 0 0 0 60 1915 AA 1 1 0 - 8 60 302 0 0 18.041526 289 60 10450 420 ENST00000266718.4 0.026936 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 92363263 92363263 __UNKNOWN__ IGR SNP C C T rs12315835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:92363263C>T NA NA RP11-587P21.3 (63300 upstream) : C12orf79 (15492 downstream) NA NA NA gtcaggagatcgagaccatcc 0.512 NA T||| 898 0.179313 0.1097 0.3213 5008 , , NA 17656 0.0873 NA 0.2575 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.92363263C>T NA hg19 0.02 -0.035092 GATxGAG UNCOVERED NOVEL 0 2 2.405122 KEEP 6 0 0 8 244 CC 0 0 0 2 60 70 0 0 6.750036 2 60 70 19 0.5 0.019982 EEA1 8411 __UNKNOWN__ __UNKNOWN__ 12 93169124 93169124 __UNKNOWN__ 3'UTR SNP G G A rs3203635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:93169124G>A ENST00000322349.8 - 0 5163 NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 NA NA early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906) axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969) 1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TTTTACAGAGGTTTTTATAAA 0.234 NA G||| 2348 0.46885 0.1679 0.5245 5008 , , NA 16016 0.8681 NA 0.3569 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L40157 CCDS31874.1 12q22 2007-02-23 2007-02-23 ENSG00000102189 8411 Zinc fingers, FYVE domain containing 3185 protein-coding gene gene with protein product 605070 early endosome antigen 1, 162kD NA 7768953, 9697774 Standard NM_003566 NM_003566 NA Approved ZFYVE2 uc001tck.3 Q15075 OTTHUMG00000170110 ENST00000322349.8:c.*663C>T chr12.hg19:g.93169124G>A NA Q14221 hg19 CCDS31874.1 0.02 8.639129 GAGxTTT COVERED NOVEL EEA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407304.1 0 16.022047 KEEP 0 2 62 75 2685 GG 1 1 0 - 10 60 373 0 0 24.450338 208 60 7653 352 ENST00000322349.8 0.045872 1 EEA1 8411 __UNKNOWN__ __UNKNOWN__ 12 93252891 93252891 __UNKNOWN__ Intron SNP G G C rs10859385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:93252891G>C ENST00000322349.8 - 4 510 EEA1_ENST00000547833.1_Intron NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 NA NA early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906) axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969) 1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 AAGAGTGAGAGGGAGCTACTA 0.418 NA G||| 2350 0.469249 0.1679 0.5274 5008 , , NA 20130 0.8681 NA 0.3588 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40157 CCDS31874.1 12q22 2007-02-23 2007-02-23 ENSG00000102189 8411 Zinc fingers, FYVE domain containing 3185 protein-coding gene gene with protein product 605070 early endosome antigen 1, 162kD NA 7768953, 9697774 Standard NM_003566 NM_003566 NA Approved ZFYVE2 uc001tck.3 Q15075 OTTHUMG00000170110 ENST00000322349.8:c.246-1630C>G chr12.hg19:g.93252891G>C NA Q14221 hg19 CCDS31874.1 0.02 2.343716 AGAxGGA COVERED NOVEL EEA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407304.1 0 3.311024 KEEP 0 0 0 11 411 GG 0.993072 0.984099 0 - 4 60 156 0 0 11.068973 58 60 2163 82 ENST00000322349.8 0.064516 0.990964 CRADD 8738 __UNKNOWN__ __UNKNOWN__ 12 94200011 94200011 __UNKNOWN__ Intron SNP A A C rs55834012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94200011A>C ENST00000542893.2 + 3 616 CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Intron|CRADD_ENST00000548483.1_Intron P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235) cytoplasm (GO:0005737)|nucleus (GO:0005634) death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674) endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 gggcggatcaaaagatcagga 0.517 NA C||| 2369 0.473043 0.3707 0.4092 5008 , , NA 15579 0.6845 NA 0.3867 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U84388 CCDS9048.1 12q21.33-q23.1 2008-08-04 ENSG00000169372 8738 2340 protein-coding gene gene with protein product RIP-associated ICH1/CED3-homologous protein with death domain 603454 NA 8985253, 9044836 Standard NM_003805 NM_003805 NA Approved RAIDD uc001tda.3 P78560 ENST00000542893.2:c.299-43735A>C chr12.hg19:g.94200011A>C NA B7Z2Q5 hg19 CCDS9048.1 0.02 -0.035064 TCAxAAG UNCOVERED NOVEL CRADD-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408515.1 0 2.406902 KEEP 0 0 0 8 239 AA 0.99257 0.019833 0 + 2 60 78 0 0 7.55153 2 60 57 15 ENST00000542893.2 0.5 0.019982 CRADD 8738 __UNKNOWN__ __UNKNOWN__ 12 94243853 94243853 __UNKNOWN__ Silent SNP C C T rs56944668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94243853C>T ENST00000542893.2 + 3 724 c.406C>T c.(406-408)Ctg>Ttg p.L136L CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Silent_p.L136L|CRADD_ENST00000548483.1_Intron P78560 CRADD_HUMAN CASP2 and RIPK1 domain containing adaptor with death domain 136 Death. {ECO:0000255|PROSITE- ProRule:PRU00064}. NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235) cytoplasm (GO:0005737)|nucleus (GO:0005634) death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674) p.L136L(1) endometrium(1)|large_intestine(5)|lung(1)|ovary(1) 8 GCCCATGGTGCTGTCTCTGGG 0.617 NA C||| 1138 0.227236 0.1059 0.1686 5008 , , NA 17245 0.4911 NA 0.1551 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 1 Substitution - coding silent(1) large_intestine(1) C 537,3869 245.3+/-254.3 31,475,1697 57 53 54 406 5.9 1 12 dbSNP_129 54 1357,7243 265.0+/-285.9 105,1147,3048 yes coding-synonymous CRADD NM_003805.3 136,1622,4745 TT,TC,CC 15.7791,12.1879,14.5625 136/200 94243853 1894,11112 2203 4300 6503 SO:0001819 synonymous_variant U84388 CCDS9048.1 12q21.33-q23.1 2008-08-04 ENSG00000169372 8738 2340 protein-coding gene gene with protein product RIP-associated ICH1/CED3-homologous protein with death domain 603454 NA 8985253, 9044836 Standard NM_003805 NM_003805 NA Approved RAIDD uc001tda.3 P78560 ENST00000542893.2:c.406C>T chr12.hg19:g.94243853C>T NA B7Z2Q5 hg19 CCDS9048.1 0.02 16.354361 GTGxTGT COVERED NOVEL CRADD-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408515.1 0 30.700257 KEEP 0 0 0 102 3686 CC 1 1 0 + 17 60 594 0 0 36.900372 388 60 14606 666 ENST00000542893.2 0.041975 1 PLXNC1 10154 __UNKNOWN__ __UNKNOWN__ 12 94694844 94694844 __UNKNOWN__ Intron SNP G G A rs149525262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94694844G>A ENST00000545312.1 + 9 1179 PLXNC1_ENST00000258526.4_Intron|PLXNC1_ENST00000547057.1_Intron O60486 PLXC1_HUMAN plexin C1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|receptor binding (GO:0005102) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GTAAGGCCCAGCTTGAGTATT 0.398 NA G||| 16 0.00319489 0.0 0.0 5008 , , NA 18725 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 117 104 108 NA NA 12 NA 94694844 2203 4300 6503 SO:0001627 intron_variant AF030339 CCDS9049.1 12q23 2009-04-17 ENSG00000136040 10154 CD molecules, Plexins 9106 protein-coding gene gene with protein product 604259 NA Standard NR_037687 NA Approved VESPR, CD232 uc001tdc.3 O60486 OTTHUMG00000170235 ENST00000545312.1:c.603+11G>A chr12.hg19:g.94694844G>A NA Q59H25 hg19 0.02 12.341546 CCAxCTT COVERED NOVEL PLXNC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000408129.2 1 27.389224 KEEP 0 0 0 91 3278 GG 1 1 0 + 12 60 435 0 0 27.065709 305 60 11423 497 ENST00000545312.1 0.037855 1 PLXNC1 10154 __UNKNOWN__ __UNKNOWN__ 12 94697525 94697525 __UNKNOWN__ Intron SNP T T C rs1057977|rs67648319 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94697525T>C ENST00000545312.1 + 10 1179 PLXNC1_ENST00000258526.4_Intron|PLXNC1_ENST00000547057.1_Intron O60486 PLXC1_HUMAN plexin C1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|receptor binding (GO:0005102) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 tttttttttttCCCCAGGAAG 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 - 134,4264 15,104,2080 23 24 24 -0.3 0 12 dbSNP_86 24 143,8443 14,115,4164 no intron PLXNC1 NM_005761.2 29,219,6244 CC,CT,TT 1.6655,3.0468,2.1334 94697525 277,12707 2199 4293 6492 SO:0001627 intron_variant AF030339 CCDS9049.1 12q23 2009-04-17 ENSG00000136040 10154 CD molecules, Plexins 9106 protein-coding gene gene with protein product 604259 NA Standard NR_037687 NA Approved VESPR, CD232 uc001tdc.3 O60486 OTTHUMG00000170235 ENST00000545312.1:c.604-7T>C chr12.hg19:g.94697525T>C NA Q59H25 hg19 0.02 3.889348 TTTxCCC COVERED NOVEL PLXNC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000408129.2 3 18.615964 KEEP 1 0 0 62 1868 TT 1 1 0 + 6 60 205 2 0 12.637479 133 60 4430 287 ENST00000545312.1 0.043165 1 PLXNC1 10154 __UNKNOWN__ __UNKNOWN__ 12 94699150 94699150 __UNKNOWN__ 3'UTR SNP G G C rs191489124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94699150G>C ENST00000545312.1 + 0 1589 PLXNC1_ENST00000258526.4_3'UTR|PLXNC1_ENST00000547057.1_3'UTR O60486 PLXC1_HUMAN plexin C1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor activity (GO:0004872)|receptor binding (GO:0005102) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCGTTAATTTGTTGTTTGCAC 0.458 NA C||| 16 0.00319489 0.0 0.0 5008 , , NA 20526 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF030339 CCDS9049.1 12q23 2009-04-17 ENSG00000136040 10154 CD molecules, Plexins 9106 protein-coding gene gene with protein product 604259 NA Standard NR_037687 NA Approved VESPR, CD232 uc001tdc.3 O60486 OTTHUMG00000170235 ENST00000545312.1:c.*89G>C chr12.hg19:g.94699150G>C NA Q59H25 hg19 0.02 29.553803 TTTxTTG COVERED NOVEL PLXNC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000408129.2 8 57.48727 KEEP 0 0 0 191 6773 GG 1 1 0 + 21 60 800 0 0 49.464876 650 60 24599 1067 ENST00000545312.1 0.031297 1 CCDC41 0 __UNKNOWN__ __UNKNOWN__ 12 94772488 94772488 __UNKNOWN__ Intron SNP T T A rs149324362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94772488T>A ENST00000397809.5 - 7 1351 CCDC41_ENST00000397807.2_Intron|CCDC41_ENST00000549352.1_Intron|CCDC41_ENST00000547575.1_Intron|CCDC41_ENST00000339839.5_Intron NM_016122.2 NP_057206.2 Q9Y592 CEP83_HUMAN NA NA cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278) centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794) breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 CATACATTTATGCTCTAAAAA 0.368 NA T||| 27 0.00539137 0.0 0.0058 5008 , , NA 17713 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000397809.5:c.801+78A>T chr12.hg19:g.94772488T>A NA A4FVB1|Q08AP1 hg19 CCDS41820.1 0.02 6.305566 TTAxGCT COVERED NOVEL CCDC41-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408147.3 3 7.818783 KEEP 0 0 0 26 730 TT 0.999957 0.999957 0 - 7 60 246 0 0 14.948724 182 60 6521 233 ENST00000397809.5 0.037037 1 CCDC41 0 __UNKNOWN__ __UNKNOWN__ 12 94818835 94818835 __UNKNOWN__ Intron SNP G G A rs182304873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94818835G>A ENST00000397809.5 - 2 449 CCDC41_ENST00000397807.2_Intron|CCDC41_ENST00000547575.1_Intron|CCDC41_ENST00000339839.5_Intron NM_016122.2 NP_057206.2 Q9Y592 CEP83_HUMAN NA NA cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278) centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794) breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 ggaggggatcgagggaaaggg 0.552 NA g||| 16 0.00319489 0.0 0.0 5008 , , NA 11087 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000397809.5:c.100+10215C>T chr12.hg19:g.94818835G>A NA A4FVB1|Q08AP1 hg19 CCDS41820.1 0.02 1.842907 ATCxAGG COVERED NOVEL CCDC41-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408147.3 0 9.018792 KEEP 11 0 0 30 919 GG 0.999892 0.999514 0 - 4 60 140 0 0 9.20392 68 60 2257 133 ENST00000397809.5 0.055556 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 94943547 94943547 __UNKNOWN__ IGR SNP G G A rs10859724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94943547G>A NA NA RN7SL483P (34011 upstream) : MIR5700 (12017 downstream) NA NA NA GTCACTGTAAGCCTGCCCAGT 0.373 NA G||| 1431 0.285743 0.3888 0.2435 5008 , , NA 17341 0.3264 NA 0.1889 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.94943547G>A NA hg19 0.02 19.964353 TAAxCCT COVERED NOVEL 0 1 24.91963 KEEP 2 0 0 83 2962 GG 1 1 0 16 60 574 0 0 33.933616 511 60 19236 735 0.030361 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 94943872 94943872 __UNKNOWN__ IGR SNP T T C rs10859725 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:94943872T>C NA NA RN7SL483P (34336 upstream) : MIR5700 (11692 downstream) NA NA NA GAAAAATCCATGAGTGTTCCA 0.323 NA T||| 1380 0.275559 0.3714 0.2334 5008 , , NA 17366 0.3254 NA 0.172 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.94943872T>C NA hg19 0.02 -0.394787 CCAxGAG COVERED NOVEL 0 0 3.611196 KEEP 0 0 0 12 394 TT 0.993634 0.920741 0 4 60 129 0 0 8.949063 41 60 1524 65 0.088889 0.92664 NTN4 59277 __UNKNOWN__ __UNKNOWN__ 12 96106943 96106943 __UNKNOWN__ Intron SNP T T C rs4129599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:96106943T>C ENST00000343702.4 - 4 1440 NTN4_ENST00000344911.4_Intron|NTN4_ENST00000553059.1_Intron|NTN4_ENST00000538383.1_Intron NM_021229.3 NP_067052.2 Q9HB63 NET4_HUMAN netrin 4 NA NA axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668) basement membrane (GO:0005604)|plasma membrane (GO:0005886) NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CACAGATGCGTTGACTTTACA 0.483 NA T||| 1928 0.384984 0.618 0.2017 5008 , , NA 19965 0.5367 NA 0.2425 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 T 2368,2038 608.8+/-391.2 637,1094,472 62 55 58 -3.2 0 12 dbSNP_108 58 1884,6716 335.0+/-321.2 226,1432,2642 no intron NTN4 NM_021229.3 863,2526,3114 CC,CT,TT 21.907,46.2551,32.6926 96106943 4252,8754 2203 4300 6503 SO:0001627 intron_variant AF119916 CCDS9054.1 12q22 2013-03-01 ENSG00000074527 ENSG00000074527 59277 Netrins 13658 protein-coding gene gene with protein product beta-netrin, Netrin-4 610401 NA 11038171 Standard NM_021229 NM_021229 NA Approved uc001tei.3 Q9HB63 OTTHUMG00000170290 ENST00000343702.4:c.991+46A>G chr12.hg19:g.96106943T>C NA B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133 hg19 CCDS9054.1 0.02 4.538044 GCGxTGA COVERED NOVEL NTN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408372.1 3 11.433615 KEEP 0 0 0 38 1200 TT 1 1 0 - 5 60 194 0 0 12.404681 136 60 4833 219 ENST00000343702.4 0.035461 1 CCDC38 120935 __UNKNOWN__ __UNKNOWN__ 12 96327407 96327407 __UNKNOWN__ Intron SNP T T A rs56125346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:96327407T>A ENST00000344280.3 - 2 595 CCDC38_ENST00000546386.1_3'UTR|CCDC38_ENST00000549752.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 NA NA breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gacattattatctgaagttga 0.353 NA T||| 607 0.121206 0.0371 0.013 5008 , , NA 19796 0.4474 NA 0.0099 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097408 CCDS9056.1 12q23.1 2005-11-02 ENSG00000165972 120935 26843 protein-coding gene gene with protein product NA Standard NM_182496 NM_182496 NA Approved FLJ40089 uc001tek.2 Q502W7 OTTHUMG00000170352 ENST00000344280.3:c.37+2843A>T chr12.hg19:g.96327407T>A NA Q8N835 hg19 CCDS9056.1 0.02 6.145078 TTAxCTG COVERED NOVEL CCDC38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408634.1 1 4.513607 KEEP 0 0 0 15 472 TT 0.99649 0.99649 0 - 9 60 325 0 0 20.942779 187 60 6736 228 ENST00000344280.3 0.045918 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 97639191 97639191 __UNKNOWN__ IGR SNP G G A rs74823066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:97639191G>A NA NA RP11-541G9.1 (59804 upstream) : RP11-541G9.2 (27278 downstream) NA NA NA TTCCATCTTGGACATTGGATT 0.433 NA G||| 421 0.0840655 0.0023 0.0259 5008 , , NA 20261 0.1151 NA 0.0696 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 G 15,1737 0,15,861 47 46 46 4.6 0.7 12 dbSNP_131 46 196,3786 4,188,1799 no intergenic 4,203,2660 AA,AG,GG 4.9221,0.8562,3.6798 97639191 211,5523 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.97639191G>A NA hg19 0.02 10.489211 TTGxACA COVERED NOVEL 0 2 6.320702 KEEP 0 0 0 21 747 GG 0.999869 0.999869 0 10 60 356 0 0 21.844413 258 60 9663 327 0.037313 1 IKBIP 121457 __UNKNOWN__ __UNKNOWN__ 12 99007356 99007356 __UNKNOWN__ 3'UTR SNP T T C rs1048908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99007356T>C ENST00000342502.2 - 0 1471 IKBIP_ENST00000420861.1_3'UTR|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein NA NA response to X-ray (GO:0010165) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 ATCTCAATAATGTCAAACTAA 0.264 NA C||| 2075 0.414337 0.6142 0.3429 5008 , , NA 17036 0.3502 NA 0.2992 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 C , 2588,1798 791,1006,396 38 42 40 , -0.9 0 12 dbSNP_86 40 2716,5852 447,1822,2015 no utr-3,utr-3 IKBIP NM_201612.1,NM_201613.1 , 1238,2828,2411 CC,CT,TT 31.6993,40.9941,40.9449 , , 99007356 5304,7650 2193 4284 6477 SO:0001624 3_prime_UTR_variant AJ539425 CCDS9067.1, CCDS9068.1, CCDS41822.1 12q23.1 2010-02-17 ENSG00000166130 ENSG00000166130 121457 26430 protein-coding gene gene with protein product I kappa B kinase interacting protein 609861 NA 15389287 Standard NM_153687 NM_153687 NA Approved FLJ31051, IKIP uc001tfx.4 Q70UQ0 OTTHUMG00000170213 ENST00000342502.2:c.*7A>G chr12.hg19:g.99007356T>C NA Q6ZWH4|Q70UP9|Q86V91|Q96ND2 hg19 CCDS9067.1 0.02 26.001623 TAAxGTC COVERED NOVEL IKBIP-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000408003.2 2 22.265919 KEEP 0 0 0 74 2319 TT 1 1 0 - 20 60 687 0 0 39.300257 647 60 24150 892 ENST00000342502.2 0.029985 1 IKBIP 121457 __UNKNOWN__ __UNKNOWN__ 12 99038881 99038881 __UNKNOWN__ 5'UTR SNP T T A rs76396995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99038881T>A ENST00000342502.2 - 0 10 NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein NA NA response to X-ray (GO:0010165) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 GGCGCGTCCCTGAGGCTTAGC 0.771 NA T||| 503 0.100439 0.0015 0.0504 5008 , , NA 11261 0.1845 NA 0.0785 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ539425 CCDS9067.1, CCDS9068.1, CCDS41822.1 12q23.1 2010-02-17 ENSG00000166130 ENSG00000166130 121457 26430 protein-coding gene gene with protein product I kappa B kinase interacting protein 609861 NA 15389287 Standard NM_153687 NM_153687 NA Approved FLJ31051, IKIP uc001tfx.4 Q70UQ0 OTTHUMG00000170213 ENST00000342502.2:c.-402A>T chr12.hg19:g.99038881T>A NA Q6ZWH4|Q70UP9|Q86V91|Q96ND2 hg19 CCDS9067.1 0.02 1.954196 CCCxGAG COVERED NOVEL IKBIP-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000408003.2 1 11.431368 KEEP 0 0 0 38 1143 TT 1 0.999919 0 - 4 60 139 0 0 8.614771 91 60 3294 165 ENST00000342502.2 0.042105 0.999919 APAF1 317 __UNKNOWN__ __UNKNOWN__ 12 99061275 99061275 __UNKNOWN__ Intron SNP T T C rs34873465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99061275T>C ENST00000551964.1 + 10 2098 APAF1_ENST00000547045.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000550527.1_Intron|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000357310.1_Intron NM_181861.1 NP_863651.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432) apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TTCTGAAACGTTTCATTGGGT 0.418 NA T||| 587 0.117212 0.003 0.1009 5008 , , NA 15837 0.2262 NA 0.0954 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 T ,,,, 85,4321 72.5+/-110.5 0,85,2118 116 112 114 ,,,, 0.5 0 12 dbSNP_126 114 820,7780 190.6+/-237.0 39,742,3519 no intron,intron,intron,intron,intron APAF1 NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1 ,,,, 39,827,5637 CC,CT,TT 9.5349,1.9292,6.9583 ,,,, ,,,, 99061275 905,12101 2203 4300 6503 SO:0001627 intron_variant AF013263 CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1 12q23 2013-01-10 2006-10-23 ENSG00000120868 317 WD repeat domain containing 576 protein-coding gene gene with protein product 602233 apoptotic protease activating factor, apoptotic peptidase activating factor NA 9267021, 10702682 Standard NM_181861.1 NM_181861 NA Approved CED4, APAF-1 uc001tfz.3 O14727 OTTHUMG00000170214 ENST00000551964.1:c.1363-16T>C chr12.hg19:g.99061275T>C NA B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9 hg19 CCDS9069.1 0.02 8.988484 ACGxTTC COVERED NOVEL APAF1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000408006.1 4 8.123411 KEEP 0 0 0 27 818 TT 0.999988 0.999988 0 + 8 60 297 0 0 18.919006 193 60 6664 261 ENST00000551964.1 0.039801 1 APAF1 317 __UNKNOWN__ __UNKNOWN__ 12 99128001 99128001 __UNKNOWN__ 3'UTR SNP A A T rs374060808|rs6538881|rs386765656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99128001A>T ENST00000550527.1 + 0 5378 APAF1_ENST00000547666.1_3'UTR|APAF1_ENST00000339433.3_3'UTR|APAF1_ENST00000357310.1_3'UTR|APAF1_ENST00000359972.2_3'UTR|APAF1_ENST00000333991.1_3'UTR O14727 APAF_HUMAN apoptotic peptidase activating factor 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432) apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) tgtctctctcatcctcttttc 0.368 NA T||| 1135 0.226637 0.3631 0.1398 5008 , , NA 17366 0.245 NA 0.1024 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF013263 CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1 12q23 2013-01-10 2006-10-23 ENSG00000120868 317 WD repeat domain containing 576 protein-coding gene gene with protein product 602233 apoptotic protease activating factor, apoptotic peptidase activating factor NA 9267021, 10702682 Standard NM_181861.1 NM_181861 NA Approved CED4, APAF-1 uc001tfz.3 O14727 OTTHUMG00000170214 ENST00000550527.1:c.*1657A>T chr12.hg19:g.99128001A>T NA B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9 hg19 CCDS55862.1 0.02 4.312176 CTCxTCC COVERED NOVEL APAF1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000408010.1 1 9.360792 KEEP 0 1 31 42 1307 AA 1 1 0 + 6 60 221 0 0 14.135874 138 60 5101 220 ENST00000550527.1 0.041667 1 APAF1 317 __UNKNOWN__ __UNKNOWN__ 12 99128002 99128002 __UNKNOWN__ 3'UTR SNP T T C rs374060808|rs386765656|rs6538882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99128002T>C ENST00000550527.1 + 0 5379 APAF1_ENST00000547666.1_3'UTR|APAF1_ENST00000339433.3_3'UTR|APAF1_ENST00000357310.1_3'UTR|APAF1_ENST00000359972.2_3'UTR|APAF1_ENST00000333991.1_3'UTR O14727 APAF_HUMAN apoptotic peptidase activating factor 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432) apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) gtctctctcatcctcttttcc 0.368 NA C||| 1135 0.226637 0.3631 0.1398 5008 , , NA 17346 0.245 NA 0.1024 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF013263 CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1 12q23 2013-01-10 2006-10-23 ENSG00000120868 317 WD repeat domain containing 576 protein-coding gene gene with protein product 602233 apoptotic protease activating factor, apoptotic peptidase activating factor NA 9267021, 10702682 Standard NM_181861.1 NM_181861 NA Approved CED4, APAF-1 uc001tfz.3 O14727 OTTHUMG00000170214 ENST00000550527.1:c.*1658T>C chr12.hg19:g.99128002T>C NA B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9 hg19 CCDS55862.1 0.02 4.320785 TCAxCCT COVERED NOVEL APAF1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000408010.1 1 9.560223 KEEP 0 1 32 43 1324 TT 1 1 0 + 6 60 219 0 0 13.954683 137 60 5005 221 ENST00000550527.1 0.041958 1 ANKS1B 56899 __UNKNOWN__ __UNKNOWN__ 12 99138143 99138143 __UNKNOWN__ Intron SNP T T C rs76399902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99138143T>C ENST00000547776.2 - 25 3672 ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000549025.2_3'UTR|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_3'UTR|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000550693.2_3'UTR|ANKS1B_ENST00000549558.2_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B NA NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) ephrin receptor binding (GO:0046875) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTTAAAATAATGTCAGTTAAT 0.254 NA T||| 529 0.105631 0.0015 0.1066 5008 , , NA 15535 0.2044 NA 0.0815 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145204 CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1 12q23.1 2013-01-10 56899 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 24600 protein-coding gene gene with protein product 607815 NA 10490826, 12415113 Standard NM_020140 NM_020140 NA Approved EB-1, AIDA-1, cajalin-2, ANKS2 uc001tge.2 Q7Z6G8 ENST00000547776.2:c.3672+6989A>G chr12.hg19:g.99138143T>C NA A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9 hg19 CCDS55872.1 0.02 1.86857 TAAxGTC COVERED NOVEL ANKS1B-003 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000408421.3 1 6.018025 KEEP 0 0 0 20 633 TT 0.999863 0.99927 0 - 5 60 174 0 0 11.610995 77 60 2882 118 ENST00000547776.2 0.060976 0.999407 ANKS1B 56899 __UNKNOWN__ __UNKNOWN__ 12 99166805 99166805 __UNKNOWN__ Intron SNP G G T rs2287574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99166805G>T ENST00000547776.2 - 24 3504 ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000333732.7_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549558.2_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B NA NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) ephrin receptor binding (GO:0046875) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTGTTGAAAGGGGGTGGGTAC 0.408 NA G||| 1802 0.359824 0.3351 0.3473 5008 , , NA 20056 0.3333 NA 0.4602 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 G ,,,,,,,,,,, 1286,2474 226,834,820 77 75 76 ,,,,,,,,,,, 3.6 0 12 dbSNP_100 76 3706,4546 816,2074,1236 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron ANKS1B NM_001204065.1,NM_001204066.1,NM_001204067.1,NM_001204068.1,NM_001204069.1,NM_001204070.1,NM_001204079.1,NM_001204080.1,NM_001204081.1,NM_020140.3,NM_152788.4,NM_181670.3 ,,,,,,,,,,, 1042,2908,2056 TT,TG,GG 44.9103,34.2021,41.5584 ,,,,,,,,,,, ,,,,,,,,,,, 99166805 4992,7020 1880 4126 6006 SO:0001627 intron_variant AF145204 CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1 12q23.1 2013-01-10 56899 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 24600 protein-coding gene gene with protein product 607815 NA 10490826, 12415113 Standard NM_020140 NM_020140 NA Approved EB-1, AIDA-1, cajalin-2, ANKS2 uc001tge.2 Q7Z6G8 ENST00000547776.2:c.3504+14C>A chr12.hg19:g.99166805G>T NA A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9 hg19 CCDS55872.1 0.02 1.520066 AAGxGGG COVERED NOVEL ANKS1B-003 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000408421.3 2 7.223254 KEEP 0 0 0 24 841 GG 0.999909 0.999865 0 - 4 60 141 0 0 8.736362 95 60 3432 139 ENST00000547776.2 0.040404 0.999956 ANKS1B 56899 __UNKNOWN__ __UNKNOWN__ 12 99548013 99548013 __UNKNOWN__ Intron SNP A A G rs138573584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:99548013A>G ENST00000547776.2 - 15 2526 ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549558.2_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B NA NA cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) ephrin receptor binding (GO:0046875) NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TGTAAGACACATAAGAAGCAA 0.433 NA A||| 5 0.000998403 0.0 0.0014 5008 , , NA 20498 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF145204 CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1 12q23.1 2013-01-10 56899 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 24600 protein-coding gene gene with protein product 607815 NA 10490826, 12415113 Standard NM_020140 NM_020140 NA Approved EB-1, AIDA-1, cajalin-2, ANKS2 uc001tge.2 Q7Z6G8 ENST00000547776.2:c.2526+53T>C chr12.hg19:g.99548013A>G NA A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9 hg19 CCDS55872.1 0.02 9.842561 CACxTAA COVERED NOVEL ANKS1B-003 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000408421.3 1 9.629747 KEEP 0 0 0 32 1026 AA 0.999997 0.999997 0 - 10 60 333 0 0 19.842524 241 60 8861 324 ENST00000547776.2 0.039841 1 UHRF1BP1L 23074 __UNKNOWN__ __UNKNOWN__ 12 100477026 100477026 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:100477026A>G ENST00000279907.7 - 11 1501 UHRF1BP1L_ENST00000356828.3_Intron|UHRF1BP1L_ENST00000545232.2_Intron NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like NA NA breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 Ctcaaacaagataatatttgt 0.259 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS31882.1, CCDS31883.1 12q23.1 2011-04-15 2008-08-15 ENSG00000111647 ENSG00000111647 23074 29102 protein-coding gene gene with protein product NA Standard NM_001006947 XM_005268737 NA Approved KIAA0701 uc001tgq.3 A0JNW5 OTTHUMG00000170195 ENST00000279907.7:c.1289-114T>C chr12.hg19:g.100477026A>G NA A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1 hg19 CCDS31882.1 0.02 1.991412 AAGxTAA COVERED NOVEL UHRF1BP1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407875.1 1 2.40647 KEEP 0 0 0 8 231 AA 0.99257 0.988289 0 - 5 60 183 0 0 12.930131 63 60 2288 77 ENST00000279907.7 0.073529 0.995687 NR1H4 9971 __UNKNOWN__ __UNKNOWN__ 12 100930213 100930213 __UNKNOWN__ Intron SNP C C G rs17030285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:100930213C>G ENST00000392986.3 + 7 1065 NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000551379.1_Intron|NR1H4_ENST00000548884.1_Intron|NR1H4_ENST00000188403.7_Intron Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 NA NA bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367) nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654) bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 Chenodeoxycholic acid(DB06777) TATTAGGTCCCTCCAGATGAA 0.378 NA C||| 936 0.186901 0.0061 0.3559 5008 , , NA 14970 0.2589 NA 0.1262 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U68233 CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1 12q23.1 2013-01-16 ENSG00000012504 9971 Nuclear hormone receptors 7967 protein-coding gene gene with protein product 603826 NA 7774010, 9223286 Standard NM_005123 NM_001206977 NA Approved FXR, RIP14, HRR1, HRR-1 uc001tht.2 Q96RI1 OTTHUMG00000170359 ENST00000392986.3:c.733-77C>G chr12.hg19:g.100930213C>G NA A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943 hg19 CCDS55873.1 0.02 8.948833 TCCxTCC COVERED NOVEL NR1H4-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409135.1 1 15.04919 KEEP 0 0 0 50 1799 CC 1 1 0 + 16 60 491 0 0 30.65276 246 60 8920 371 ENST00000392986.3 0.061069 1 GAS2L3 283431 __UNKNOWN__ __UNKNOWN__ 12 101012490 101012490 __UNKNOWN__ Intron SNP G G A rs7961640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101012490G>A ENST00000537247.1 + 8 1290 GAS2L3_ENST00000266754.5_Intron|GAS2L3_ENST00000539410.1_Intron|GAS2L3_ENST00000547754.1_Intron Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 NA NA actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) actin binding (GO:0003779)|microtubule binding (GO:0008017) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 AATATAAACCGGTACTATTCT 0.343 NA A||| 3173 0.633586 0.4735 0.7651 5008 , , NA 20825 0.7857 NA 0.6938 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095594 CCDS9079.1 12q23.1 2014-09-11 ENSG00000139354 ENSG00000139354 283431 27475 protein-coding gene gene with protein product NA Standard NM_174942 NM_174942 NA Approved uc001thu.3 Q86XJ1 OTTHUMG00000170439 ENST00000537247.1:c.336+125G>A chr12.hg19:g.101012490G>A NA B2RCN2 hg19 0.02 2.29465 ACCxGTA COVERED NOVEL GAS2L3-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409147.1 0 2.407636 KEEP 0 0 0 8 266 GG 0.99257 0.991794 0 + 6 60 204 0 0 14.093962 73 60 2582 92 ENST00000537247.1 0.075949 0.999218 GAS2L3 283431 __UNKNOWN__ __UNKNOWN__ 12 101017445 101017445 __UNKNOWN__ Silent SNP T T C rs1469385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101017445T>C ENST00000537247.1 + 10 1504 c.550T>C c.(550-552)Tta>Cta p.L184L GAS2L3_ENST00000266754.5_Silent_p.L288L|GAS2L3_ENST00000539410.1_Silent_p.L288L|GAS2L3_ENST00000547754.1_Silent_p.L288L Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 288 NA actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630) actin binding (GO:0003779)|microtubule binding (GO:0008017) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 GTTTGCCACATTAGAACAAAA 0.403 NA C||| 3984 0.795527 0.6815 0.8588 5008 , , NA 15997 0.9554 NA 0.7793 False NA ,,, NA NA NA 2504 0.7566 NA NA NA NA 0 C 3079,1327 443.3+/-347.0 1073,933,197 88 92 91 862 4.6 0.9 12 dbSNP_88 91 6484,2116 364.4+/-333.5 2462,1560,278 no coding-synonymous GAS2L3 NM_174942.1 3535,2493,475 CC,CT,TT 24.6047,30.118,26.4724 288/695 101017445 9563,3443 2203 4300 6503 SO:0001819 synonymous_variant AK095594 CCDS9079.1 12q23.1 2014-09-11 ENSG00000139354 ENSG00000139354 283431 27475 protein-coding gene gene with protein product NA Standard NM_174942 NM_174942 NA Approved uc001thu.3 Q86XJ1 OTTHUMG00000170439 ENST00000537247.1:c.550T>C chr12.hg19:g.101017445T>C NA B2RCN2 hg19 0.02 8.601961 ACAxTAG COVERED NOVEL GAS2L3-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409147.1 1 9.627013 KEEP 0 0 0 32 978 TT 0.999997 0.999997 0 + 9 60 331 0 0 20.652209 236 60 8639 314 ENST00000537247.1 0.036735 1 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101728166 101728166 __UNKNOWN__ Intron SNP A A G rs2002895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101728166A>G ENST00000261637.4 + 29 3735 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AATTTGGTATATGTATTTGGT 0.363 NA A||| 3016 0.602236 0.7579 0.5274 5008 , , NA 19818 0.9187 NA 0.2594 False NA ,,, NA NA NA 2504 0.4714 NA NA NA NA 0 A 3042,1364 677.5+/-403.4 1055,932,216 54 47 49 -3.9 0 12 dbSNP_92 49 2305,6295 378.9+/-339.1 326,1653,2321 no intron UTP20 NM_014503.2 1381,2585,2537 GG,GA,AA 26.8023,30.9578,41.1118 101728166 5347,7659 2203 4300 6503 SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.3562-37A>G chr12.hg19:g.101728166A>G NA Q9H3H4 hg19 CCDS9081.1 0.02 2.185614 TATxTGT COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 1 2.707879 KEEP 0 0 0 9 272 AA 0.99254 0.991764 0 + 9 60 351 0 0 27.175702 71 60 2532 94 ENST00000261637.4 0.1125 0.999218 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101732655 101732655 __UNKNOWN__ Silent SNP C C T rs56265469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101732655C>T ENST00000261637.4 + 31 4107 c.3933C>T c.(3931-3933)agC>agT p.S1311S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1311 NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AGTATCTCAGCAAAACCACAA 0.328 NA C||| 1285 0.256589 0.1536 0.317 5008 , , NA 17124 0.375 NA 0.2376 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 C 768,3638 310.2+/-291.5 64,640,1499 95 94 95 3933 4.4 1 12 dbSNP_129 95 2074,6522 356.5+/-330.3 268,1538,2492 no coding-synonymous UTP20 NM_014503.2 332,2178,3991 TT,TC,CC 24.1275,17.4308,21.8582 1311/2786 101732655 2842,10160 2203 4298 6501 SO:0001819 synonymous_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.3933C>T chr12.hg19:g.101732655C>T NA Q9H3H4 hg19 CCDS9081.1 0.02 4.214285 CAGxAAA COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 2 8.092209 KEEP 0 0 0 27 955 CC 0.999988 0.999987 0 + 6 60 218 0 0 14.298706 115 60 4375 189 ENST00000261637.4 0.049587 0.999999 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101734277 101734277 __UNKNOWN__ Intron SNP T T C rs7963896 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101734277T>C ENST00000261637.4 + 32 4187 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ATGTTCCTTATATATCCGTTT 0.348 NA C||| 3102 0.619409 0.8215 0.5274 5008 , , NA 18832 0.9187 NA 0.2604 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 C 3295,1111 395.8+/-329.8 1239,817,147 73 69 70 1.6 0 12 dbSNP_116 70 2309,6291 702.4+/-405.3 328,1653,2319 no intron UTP20 NM_014503.2 1567,2470,2466 CC,CT,TT 26.8488,25.2156,43.0878 101734277 5604,7402 2203 4300 6503 SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.4014-24T>C chr12.hg19:g.101734277T>C NA Q9H3H4 hg19 CCDS9081.1 0.02 9.045289 TTAxATA COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 1 8.422958 KEEP 0 0 0 28 830 TT 0.999997 0.999997 0 + 10 60 384 0 0 25.123232 230 60 8427 293 ENST00000261637.4 0.041667 1 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101734452 101734452 __UNKNOWN__ Intron SNP C C T rs7977402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101734452C>T ENST00000261637.4 + 32 4275 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GGTTTAATTGCGAGCAGCAAT 0.358 NA T||| 2919 0.582867 0.7292 0.513 5008 , , NA 17400 0.9177 NA 0.2396 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.4101+64C>T chr12.hg19:g.101734452C>T NA Q9H3H4 hg19 CCDS9081.1 0.02 10.328334 TTGxGAG COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 0 11.435811 KEEP 0 0 0 38 1301 CC 1 1 0 + 10 60 373 0 0 23.422572 265 60 8785 361 ENST00000261637.4 0.036364 1 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101736381 101736381 __UNKNOWN__ Intron SNP A A G rs2270861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101736381A>G ENST00000261637.4 + 33 4419 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TGTACTATTCATTTTTACTCC 0.323 NA A||| 1285 0.256589 0.1536 0.317 5008 , , NA 16504 0.376 NA 0.2376 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 A 769,3635 302.1+/-287.2 64,641,1497 42 43 43 -1 0 12 dbSNP_100 43 2075,6523 353.4+/-329.1 269,1537,2493 no intron UTP20 NM_014503.2 333,2178,3990 GG,GA,AA 24.1335,17.4614,21.8736 101736381 2844,10158 2202 4299 6501 SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.4245+14A>G chr12.hg19:g.101736381A>G NA Q9H3H4 hg19 CCDS9081.1 0.02 2.176859 TTCxTTT COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 0 2.707084 KEEP 0 0 0 9 262 AA 0.99254 0.991863 0 + 7 60 252 0 0 18.19483 74 60 2685 94 ENST00000261637.4 0.08642 0.999317 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101755683 101755683 __UNKNOWN__ Intron SNP T T C rs7313312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101755683T>C ENST00000261637.4 + 44 5865 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTAGATCTTATGTTTTCCTAG 0.398 NA T||| 1180 0.235623 0.0923 0.2939 5008 , , NA 16175 0.375 NA 0.2286 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.5692-57T>C chr12.hg19:g.101755683T>C NA Q9H3H4 hg19 CCDS9081.1 0.02 6.545553 TTAxGTT COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 0 7.822179 KEEP 0 0 0 26 783 TT 0.999957 0.999957 0 + 7 60 259 0 0 16.516708 166 60 6176 224 ENST00000261637.4 0.040462 1 UTP20 27340 __UNKNOWN__ __UNKNOWN__ 12 101757530 101757530 __UNKNOWN__ Intron SNP G G A rs2305862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101757530G>A ENST00000261637.4 + 45 6132 NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) NA NA endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364) 90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) p.?(1) NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AGGTAAGGACGTAAATGCAAT 0.403 NA G||| 1124 0.224441 0.0915 0.2824 5008 , , NA 21365 0.374 NA 0.2087 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 1 Unknown(1) stomach(1) G 470,3936 221.3+/-238.5 21,428,1754 71 64 66 -1.3 0 12 dbSNP_100 66 1817,6783 325.8+/-317.1 205,1407,2688 no intron UTP20 NM_014503.2 226,1835,4442 AA,AG,GG 21.1279,10.6673,17.5842 101757530 2287,10719 2203 4300 6503 SO:0001627 intron_variant AJ006778 CCDS9081.1 12q23 2006-02-11 ENSG00000120800 27340 17897 protein-coding gene gene with protein product down regulated in metastasis 612822 NA 9673349, 15590835, 12837249 Standard NM_014503 NM_014503 NA Approved DRIM uc001tia.1 O75691 OTTHUMG00000170270 ENST00000261637.4:c.5958+9G>A chr12.hg19:g.101757530G>A NA Q9H3H4 hg19 CCDS9081.1 0.02 3.891856 GACxTAA COVERED NOVEL UTP20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408242.1 0 2.708629 KEEP 0 0 0 9 317 GG 0.99254 0.99254 0 + 6 60 223 0 0 14.505976 129 60 4767 148 ENST00000261637.4 0.044444 1 ARL1 400 __UNKNOWN__ __UNKNOWN__ 12 101787608 101787608 __UNKNOWN__ 3'UTR SNP C C T rs11555441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101787608C>T ENST00000261636.8 - 0 2530 NM_001177.4 NP_001168.1 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 NA NA activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904) central_nervous_system(1)|upper_aerodigestive_tract(1) 2 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) TGTAAGTGAACTTGCTTTCTG 0.463 NA C||| 1065 0.21266 0.0356 0.2738 5008 , , NA 20054 0.373 NA 0.2058 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537387 CCDS44958.1, CCDS73510.1 12q23.3 2014-05-09 400 ADP-ribosylation factors-like, ADP-ribosylation factors 692 protein-coding gene gene with protein product 603425 NA Standard NM_001177 XM_005268869 NA Approved ARFL1 uc001tib.3 P40616 OTTHUMG00000170271 ENST00000261636.8:c.*1810G>A chr12.hg19:g.101787608C>T NA B4DWW1|P80417|Q53XB1 hg19 CCDS44958.1 0.02 4.361575 GAAxTTG COVERED NOVEL ARL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000408246.1 2 7.524781 KEEP 0 0 0 25 911 CC 0.999931 0.99993 0 - 8 60 269 0 0 17.927217 119 60 4540 179 ENST00000261636.8 0.062992 1 ARL1 400 __UNKNOWN__ __UNKNOWN__ 12 101790373 101790373 __UNKNOWN__ Intron SNP T T C rs73159756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:101790373T>C ENST00000551828.1 - 5 518 ARL1_ENST00000539055.1_Intron|ARL1_ENST00000261636.8_Intron|ARL1_ENST00000536227.1_Intron|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551671.1_Intron P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 NA NA activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904) central_nervous_system(1)|upper_aerodigestive_tract(1) 2 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) AAATTGAAAATATTTAATTTC 0.303 NA T||| 1067 0.213059 0.0363 0.2752 5008 , , NA 17370 0.373 NA 0.2058 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 T 222,3364 6,210,1577 62 64 63 -1.3 0 12 dbSNP_130 63 1690,6452 184,1322,2565 no intron ARL1 NM_001177.4 190,1532,4142 CC,CT,TT 20.7566,6.1907,16.3029 101790373 1912,9816 1793 4071 5864 SO:0001627 intron_variant BX537387 CCDS44958.1, CCDS73510.1 12q23.3 2014-05-09 400 ADP-ribosylation factors-like, ADP-ribosylation factors 692 protein-coding gene gene with protein product 603425 NA Standard NM_001177 XM_005268869 NA Approved ARFL1 uc001tib.3 P40616 OTTHUMG00000170271 ENST00000551828.1:c.286-18A>G chr12.hg19:g.101790373T>C NA B4DWW1|P80417|Q53XB1 hg19 0.02 14.84296 AAAxATT COVERED NOVEL ARL1-011 PUTATIVE alternative_5_UTR|upstream_uORF|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000408253.1 6 25.576047 KEEP 0 0 0 85 2685 TT 1 1 0 - 14 60 553 0 0 36.64085 326 60 11660 518 ENST00000551828.1 0.041176 1 DRAM1 55332 __UNKNOWN__ __UNKNOWN__ 12 102295218 102295218 __UNKNOWN__ Intron SNP T T C rs386765823|rs7295569|rs201692573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:102295218T>C ENST00000544152.1 + 3 449 DRAM1_ENST00000258534.8_Intron Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 NA NA apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TCAGGTATAATCTGGAGCTTT 0.428 NA C||| 3719 0.742612 0.9228 0.5922 5008 , , NA 19390 0.9167 NA 0.5318 False NA ,,, NA NA NA 2504 0.6431 NA NA NA NA 0 C 3046,744 1361,324,210 155 141 146 0.3 0 12 dbSNP_116 146 3181,5061 1068,1045,2008 no intron DRAM1 NM_018370.2 2429,1369,2218 CC,CT,TT 38.595,19.6306,48.2463 102295218 6227,5805 1895 4121 6016 SO:0001627 intron_variant BC018435, DA721965 CCDS41823.1 12q23.2 2014-02-12 2009-06-12 ENSG00000136048 ENSG00000136048 55332 25645 protein-coding gene gene with protein product damage-regulated autophagy modulator 610776 NA 16839881 Standard NM_018370 NM_018370 NA Approved FLJ11259, DRAM uc001tix.3 Q8N682 ENST00000544152.1:c.342+7T>C chr12.hg19:g.102295218T>C NA B7Z4T0|Q7L3E3|Q9NUN1 hg19 0.02 8.647908 TAAxCTG COVERED NOVEL DRAM1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409196.1 3 14.745381 KEEP 0 0 0 49 1587 TT 1 1 0 + 7 60 256 0 0 15.517191 210 60 7737 329 ENST00000544152.1 0.032258 1 DRAM1 55332 __UNKNOWN__ __UNKNOWN__ 12 102315359 102315359 __UNKNOWN__ 3'UTR SNP G G T rs4764677|rs200415341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:102315359G>T ENST00000544152.1 + 0 815 DRAM1_ENST00000258534.8_3'UTR Q8N682 DRAM1_HUMAN DNA-damage regulated autophagy modulator 1 NA NA apoptotic process (GO:0006915)|autophagy (GO:0006914)|regulation of autophagy (GO:0010506) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lysosome (GO:0005764) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 TGTCGTTTTTGTTTTATTTGT 0.254 NA -||| 3083 0.615615 0.851 0.4395 5008 , , NA 15659 0.7044 NA 0.3926 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC018435, DA721965 CCDS41823.1 12q23.2 2014-02-12 2009-06-12 ENSG00000136048 ENSG00000136048 55332 25645 protein-coding gene gene with protein product damage-regulated autophagy modulator 610776 NA 16839881 Standard NM_018370 NM_018370 NA Approved FLJ11259, DRAM uc001tix.3 Q8N682 ENST00000544152.1:c.*321G>T chr12.hg19:g.102315359G>T NA B7Z4T0|Q7L3E3|Q9NUN1 hg19 0.02 4.168268 TTTxTTT COVERED NOVEL DRAM1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409196.1 1 15.644068 KEEP 0 0 0 52 1866 GG 1 1 0 + 7 60 251 0 0 16.181814 142 60 5474 255 ENST00000544152.1 0.04698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 102456819 102456819 __UNKNOWN__ IGR SNP C C T rs75423089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:102456819C>T NA NA CCDC53 (892 upstream) : RP11-554E23.4 (313 downstream) NA NA NA ttggacaaaacgcacaaatca 0.393 NA C||| 482 0.096246 0.0 0.1398 5008 , , NA 23231 0.2986 NA 0.0129 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.102456819C>T NA hg19 0.02 -0.070178 AAAxGCA UNCOVERED NOVEL 0 0 2.708557 KEEP 0 0 0 9 308 CC 0.99254 0.053733 0 2 60 77 0 0 6.700689 6 60 195 23 0.25 0.054137 PARPBP 55010 __UNKNOWN__ __UNKNOWN__ 12 102517699 102517699 __UNKNOWN__ Silent SNP T T C rs77973991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:102517699T>C ENST00000358383.5 + 2 78 c.33T>C c.(31-33)gaT>gaC p.D11D PARPBP_ENST00000543784.1_Silent_p.D11D|PARPBP_ENST00000392911.2_5'UTR|PARPBP_ENST00000537257.1_Silent_p.D11D|PARPBP_ENST00000541394.1_Silent_p.D11D|PARPBP_ENST00000378128.3_Silent_p.D11D|PARPBP_ENST00000327680.2_5'UTR Q9NWS1 PARI_HUMAN PARP1 binding protein 11 NA DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042) chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(1)|lung(8)|urinary_tract(2) 11 CTGTCTCGGATATGATTAAAG 0.358 NA T||| 434 0.0866613 0.0 0.1225 5008 , , NA 17065 0.2708 NA 0.0099 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK000648 CCDS9090.1, CCDS9090.2 12q23.2 2013-03-14 2012-01-24 2012-01-24 ENSG00000185480 55010 26074 protein-coding gene gene with protein product PARP-1 binding protein 613687 chromosome 12 open reading frame 48 C12orf48 NA 20931645 Standard NM_017915 NM_017915 NA Approved FLJ20641, PARI uc001tjf.3 Q9NWS1 ENST00000358383.5:c.33T>C chr12.hg19:g.102517699T>C NA B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36 hg19 CCDS9090.2 0.02 25.309953 GGAxATG COVERED NOVEL PARPBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397030.2 3 23.464489 KEEP 0 0 0 78 2344 TT 1 1 0 + 16 60 604 0 0 36.030614 583 60 21100 829 ENST00000358383.5 0.026711 1 PAH 5053 __UNKNOWN__ __UNKNOWN__ 12 103238017 103238017 __UNKNOWN__ Intron SNP C C T rs12580432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:103238017C>T ENST00000307000.2 - 11 1321 PAH_ENST00000553106.1_Intron P00439 PH4H_HUMAN phenylalanine hydroxylase NA NA catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505) endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CATATCAAAACGGATACAAAT 0.388 NA T||| 1655 0.330471 0.0658 0.2017 5008 , , NA 24142 0.7659 NA 0.2624 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 GRCh37 CS076648 PAH S rs12580432 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U49897 CCDS9092.1 12q22-q24.2 2010-04-27 ENSG00000171759 5053 1.14.16.1 8582 protein-coding gene gene with protein product phenylalanine 4-monooxygenase 612349 NA 2063869 Standard NM_000277 NA Approved PH uc001tjq.1 P00439 ENST00000307000.2:c.1050+96G>A chr12.hg19:g.103238017C>T NA Q16717|Q8TC14 hg19 0.02 3.919297 AAAxGGA COVERED NOVEL PAH-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406693.1 0 3.009696 KEEP 0 0 0 10 342 CC 0.992708 0.992708 0 - 5 60 181 0 0 11.254366 127 60 4567 146 ENST00000307000.2 0.037879 1 PAH 5053 __UNKNOWN__ __UNKNOWN__ 12 103246700 103246700 __UNKNOWN__ Silent SNP C C T rs1042503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:103246700C>T ENST00000307000.2 - 8 990 c.720G>A c.(718-720)gtG>gtA p.V240V PAH_ENST00000553106.1_Silent_p.V245V P00439 PH4H_HUMAN phenylalanine hydroxylase 245 NA F -> S (in PKU). catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505) endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) GCAGGCCAGCCACAGGTCGGA 0.527 NA C||| 1577 0.314896 0.0129 0.196 5008 , , NA 21210 0.7629 NA 0.2594 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 GRCh37 CX056901 PAH X rs1042503 C 245,4161 142.7+/-177.9 2,241,1960 69 76 73 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 735 3 1 12 dbSNP_86 73 2116,6484 364.1+/-333.4 253,1610,2437 no coding-synonymous PAH NM_000277.1 255,1851,4397 TT,TC,CC 24.6047,5.5606,18.1532 245/453 103246700 2361,10645 2203 4300 6503 SO:0001819 synonymous_variant U49897 CCDS9092.1 12q22-q24.2 2010-04-27 ENSG00000171759 5053 1.14.16.1 8582 protein-coding gene gene with protein product phenylalanine 4-monooxygenase 612349 NA 2063869 Standard NM_000277 NA Approved PH uc001tjq.1 P00439 ENST00000307000.2:c.720G>A chr12.hg19:g.103246700C>T NA Q16717|Q8TC14 hg19 0.02 5.815467 AGCxACA COVERED NOVEL PAH-002 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406693.1 1 11.437035 KEEP 0 0 0 38 1336 CC 1 1 0 - 6 60 212 0 0 12.532586 182 60 6904 279 ENST00000307000.2 0.031915 1 RP11-552I14.1 0 __UNKNOWN__ __UNKNOWN__ 12 103558235 103558235 __UNKNOWN__ Intron SNP G G A rs11111476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:103558235G>A ENST00000547418.1 + 5 582 RP11-328J6.1_ENST00000548415.1_RNA|RP11-328J6.1_ENST00000548594.1_RNA NA NA NA GAGCAAATAGGTGCTGGACGA 0.373 NA A||| 767 0.153155 0.1346 0.0375 5008 , , NA 18953 0.3442 NA 0.0676 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000547418.1:c.27+20G>A chr12.hg19:g.103558235G>A NA hg19 0.02 19.519651 TAGxTGC COVERED NOVEL RP11-552I14.1-002 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000406975.2 2 15.951852 KEEP 0 0 0 53 1889 GG 1 1 0 + 16 60 598 0 0 36.88081 471 60 17222 658 ENST00000547418.1 0.032854 1 C12orf42 374470 __UNKNOWN__ __UNKNOWN__ 12 103762638 103762638 __UNKNOWN__ Intron SNP C C G rs12317808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:103762638C>G ENST00000378113.2 - 4 485 C12orf42_ENST00000548883.1_Intron|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_Intron|C12orf42_ENST00000548048.1_Intron NM_001099336.1 NP_001092806.1 Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 NA NA NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AAACTCTGGTCTGTCTTGGGA 0.333 NA C||| 823 0.164337 0.379 0.0994 5008 , , NA 18094 0.1012 NA 0.0905 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 C , 1144,2466 205,734,866 28 28 28 , -2 0 12 dbSNP_120 28 809,7289 50,709,3290 no intron,intron C12orf42 NM_001099336.1,NM_198521.2 , 255,1443,4156 GG,GC,CC 9.9901,31.6898,16.6809 , , 103762638 1953,9755 1805 4049 5854 SO:0001627 intron_variant AK058052 CCDS44963.1 12q23.2 2012-05-30 ENSG00000179088 ENSG00000179088 374470 24729 protein-coding gene gene with protein product NA Standard NM_198521 NM_001099336 NA Approved FLJ25323 uc001tjt.2 Q96LP6 OTTHUMG00000169988 ENST00000378113.2:c.259+26G>C chr12.hg19:g.103762638C>G NA Q49A64|Q4G0S2 hg19 CCDS44963.1 0.02 11.905771 GGTxTGT COVERED NOVEL C12orf42-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406754.1 1 5.4174 KEEP 0 0 0 18 619 CC 0.999859 0.999859 0 - 8 60 318 0 0 19.626391 290 60 10679 327 ENST00000378113.2 0.026846 1 STAB2 55576 __UNKNOWN__ __UNKNOWN__ 12 104100617 104100617 __UNKNOWN__ Silent SNP C C T rs697212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104100617C>T ENST00000388887.2 + 38 4248 c.4044C>T c.(4042-4044)tgC>tgT p.C1348C NM_017564.9 NP_060034.9 stabilin 2 NA NA NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GCCAGCCCTGCCCAGGGAATG 0.547 NA C||| 2158 0.430911 0.1203 0.3256 5008 , , NA 20375 0.747 NA 0.504 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 C 862,3544 338.1+/-305.1 88,686,1429 126 117 120 4044 3.5 1 12 dbSNP_86 120 4234,4366 573.2+/-389.8 1044,2146,1110 no coding-synonymous STAB2 NM_017564.9 1132,2832,2539 TT,TC,CC 49.2326,19.5642,39.1819 1348/2552 104100617 5096,7910 2203 4300 6503 SO:0001819 synonymous_variant AF160476 CCDS31888.1 12q23.3 2007-01-29 ENSG00000136011 55576 18629 protein-coding gene gene with protein product hyaluronic acid receptor for endocytosis 608561 NA 11829752, 12077138 Standard XR_429107 NA Approved DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2 uc001tjw.3 Q8WWQ8 OTTHUMG00000170056 ENST00000388887.2:c.4044C>T chr12.hg19:g.104100617C>T NA hg19 CCDS31888.1 0.02 15.185451 CTGxCCA COVERED NOVEL STAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407089.1 2 16.554198 KEEP 0 0 0 55 1990 CC 1 1 0 + 19 60 669 0 0 43.005729 371 60 13868 553 ENST00000388887.2 0.048718 1 NT5DC3 51559 __UNKNOWN__ __UNKNOWN__ 12 104171306 104171306 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104171306C>T ENST00000392876.3 - 0 1988 NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 NA NA cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 ACAGACATGGCATCAAGTGGT 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB032786 CCDS41824.1 12q22-q23.1 2006-02-03 ENSG00000111696 ENSG00000111696 51559 30826 protein-coding gene gene with protein product 611076 NA Standard NM_016575 NM_001031701 NA Approved TU12B1-TY, FLJ11266 uc010swe.1 Q86UY8 OTTHUMG00000157017 ENST00000392876.3:c.*301G>A chr12.hg19:g.104171306C>T NA Q9NUM7|Q9P2T2|Q9P2T3 hg19 CCDS41824.1 0.02 10.652632 TGGxATC COVERED NOVEL NT5DC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347118.2 2 13.242992 KEEP 0 0 0 44 1571 CC 1 1 0 - 9 60 323 0 0 19.608193 252 60 9431 366 ENST00000392876.3 0.034483 1 NT5DC3 51559 __UNKNOWN__ __UNKNOWN__ 12 104171742 104171742 __UNKNOWN__ Silent SNP C C T rs17034524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104171742C>T ENST00000392876.3 - 14 1552 c.1512G>A c.(1510-1512)ctG>ctA p.L504L NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 504 NA cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) p.L429L(1) NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 GGAGGCAGCTCAGAGACGCCA 0.587 NA C||| 1124 0.224441 0.087 0.2104 5008 , , NA 15043 0.4375 NA 0.1829 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 419,3987 206.2+/-227.9 23,373,1807 78 79 78 1512 3.9 1 12 dbSNP_123 78 1453,7147 278.3+/-293.3 119,1215,2966 no coding-synonymous NT5DC3 NM_001031701.2 142,1588,4773 TT,TC,CC 16.8953,9.5098,14.3934 504/549 104171742 1872,11134 2203 4300 6503 SO:0001819 synonymous_variant AB032786 CCDS41824.1 12q22-q23.1 2006-02-03 ENSG00000111696 ENSG00000111696 51559 30826 protein-coding gene gene with protein product 611076 NA Standard NM_016575 NM_001031701 NA Approved TU12B1-TY, FLJ11266 uc010swe.1 Q86UY8 OTTHUMG00000157017 ENST00000392876.3:c.1512G>A chr12.hg19:g.104171742C>T NA Q9NUM7|Q9P2T2|Q9P2T3 hg19 CCDS41824.1 0.02 10.868445 GCTxAGA COVERED NOVEL NT5DC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347118.2 1 14.139027 KEEP 0 0 0 47 1576 CC 1 1 0 - 17 60 621 0 0 42.03642 276 60 10321 402 ENST00000392876.3 0.05802 1 NT5DC3 51559 __UNKNOWN__ __UNKNOWN__ 12 104187707 104187707 __UNKNOWN__ Intron SNP G G A rs75052661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104187707G>A ENST00000392876.3 - 7 855 NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 NA NA cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235) hydrolase activity (GO:0016787)|metal ion binding (GO:0046872) p.?(1) NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 ATACTGCTGAGCACATACCAA 0.418 NA G||| 292 0.0583067 0.0 0.0375 5008 , , NA 21310 0.248 NA 0.001 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 1 Unknown(1) stomach(1) G 14,4392 22.3+/-47.3 0,14,2189 215 187 197 0.9 0 12 dbSNP_132 197 10,8590 7.7+/-29.5 0,10,4290 no intron NT5DC3 NM_001031701.2 0,24,6479 AA,AG,GG 0.1163,0.3177,0.1845 104187707 24,12982 2203 4300 6503 SO:0001627 intron_variant AB032786 CCDS41824.1 12q22-q23.1 2006-02-03 ENSG00000111696 ENSG00000111696 51559 30826 protein-coding gene gene with protein product 611076 NA Standard NM_016575 NM_001031701 NA Approved TU12B1-TY, FLJ11266 uc010swe.1 Q86UY8 OTTHUMG00000157017 ENST00000392876.3:c.814+7C>T chr12.hg19:g.104187707G>A NA Q9NUM7|Q9P2T2|Q9P2T3 hg19 CCDS41824.1 0.02 19.578777 TGAxCAC COVERED NOVEL NT5DC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347118.2 6 20.767937 KEEP 0 0 0 69 2482 GG 1 1 0 - 19 60 704 0 0 44.944643 450 60 17288 678 ENST00000392876.3 0.040512 1 HSP90B1 7184 __UNKNOWN__ __UNKNOWN__ 12 104327979 104327979 __UNKNOWN__ Silent SNP C C T rs6615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104327979C>T ENST00000299767.5 + 5 839 c.657C>T c.(655-657)acC>acT p.T219T NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 219 NA actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224) cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) ACAACGATACCCAGCACATCT 0.438 NA C||| 620 0.123802 0.0053 0.1859 5008 , , NA 20983 0.2808 NA 0.1153 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 C 111,4295 85.8+/-124.5 1,109,2093 90 85 87 657 5 1 12 dbSNP_52 87 1044,7556 222.4+/-259.5 76,892,3332 no coding-synonymous HSP90B1 NM_003299.1 77,1001,5425 TT,TC,CC 12.1395,2.5193,8.8805 219/804 104327979 1155,11851 2203 4300 6503 SO:0001819 synonymous_variant AY040226 CCDS9094.1 12q24.2-q24.3 2011-09-02 2006-02-24 2006-02-24 ENSG00000166598 7184 Heat shock proteins / HSPC 12028 protein-coding gene gene with protein product 191175 tumor rejection antigen (gp96) 1 TRA1 NA 16269234 Standard NM_003299 NM_003299 NA Approved GP96, GRP94 uc001tkb.2 P14625 OTTHUMG00000170118 ENST00000299767.5:c.657C>T chr12.hg19:g.104327979C>T NA Q96A97 hg19 CCDS9094.1 0.02 4.160444 TACxCAG COVERED NOVEL HSP90B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407349.1 0 16.251156 KEEP 0 0 0 54 1854 CC 1 1 0 + 9 60 337 0 0 23.215339 141 60 5019 221 ENST00000299767.5 0.06 1 HSP90B1 7184 __UNKNOWN__ __UNKNOWN__ 12 104337667 104337667 __UNKNOWN__ Intron SNP G G A rs1882019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104337667G>A ENST00000299767.5 + 14 2209 NM_003299.2 NP_003290.1 P14625 ENPL_HUMAN heat shock protein 90kDa beta (Grp94), member 1 NA NA actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224) cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) GCATCCTCGGGAAAGTCCCTG 0.473 NA G||| 600 0.119808 0.0053 0.111 5008 , , NA 18973 0.3254 NA 0.0954 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 G 99,4307 71.4+/-109.4 1,97,2105 56 40 46 3.6 0 12 dbSNP_92 46 853,7747 179.0+/-228.3 44,765,3491 no intron HSP90B1 NM_003299.1 45,862,5596 AA,AG,GG 9.9186,2.2469,7.3197 104337667 952,12054 2203 4300 6503 SO:0001627 intron_variant AY040226 CCDS9094.1 12q24.2-q24.3 2011-09-02 2006-02-24 2006-02-24 ENSG00000166598 7184 Heat shock proteins / HSPC 12028 protein-coding gene gene with protein product 191175 tumor rejection antigen (gp96) 1 TRA1 NA 16269234 Standard NM_003299 NM_003299 NA Approved GP96, GRP94 uc001tkb.2 P14625 OTTHUMG00000170118 ENST00000299767.5:c.2027+15G>A chr12.hg19:g.104337667G>A NA Q96A97 hg19 CCDS9094.1 0.02 7.886444 CGGxAAA COVERED NOVEL HSP90B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407349.1 28 23.175023 KEEP 0 0 0 77 2698 GG 1 1 0 + 7 60 254 0 0 14.918816 240 60 9102 408 ENST00000299767.5 0.02834 1 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104359677 104359677 __UNKNOWN__ 5'UTR SNP A A G rs112179075 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104359677A>G ENST00000392872.3 + 0 96 TDG_ENST00000266775.9_5'UTR|TDG_ENST00000544861.1_5'UTR NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) GCTTGAGTCCAGCCACTGTCT 0.642 NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.-139A>G chr12.hg19:g.104359677A>G NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 7.412806 TCCxGCC COVERED NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 46 17.383059 KEEP 0 4 144 108 3273 AA 1 1 0 + 30 60 1020 0 0 81.339647 147 60 5377 360 ENST00000392872.3 0.169492 1 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104359779 104359779 __UNKNOWN__ 5'UTR SNP C C T rs372823872 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104359779C>T ENST00000392872.3 + 0 198 TDG_ENST00000266775.9_5'UTR|TDG_ENST00000544861.1_5'UTR NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) CCCGTGTGCCCGGCAGGTGGA 0.687 NA Base excision repair (BER), DNA glycosylases NA NA NA NA NA NA NA NA NA NA 0 5 7 6 NA NA 12 NA 104359779 2049 4006 6055 SO:0001623 5_prime_UTR_variant U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.-37C>T chr12.hg19:g.104359779C>T NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 4.203967 GCCxGGC COVERED NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 13 27.724362 KEEP 3 4 119 134 4584 CC 1 1 0 + 23 60 833 0 0 66.741483 122 60 4288 370 ENST00000392872.3 0.158621 1 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104366815 104366815 __UNKNOWN__ Intron SNP G G A rs17035056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104366815G>A ENST00000392872.3 + 2 257 TDG_ENST00000266775.9_Intron|TDG_ENST00000544861.1_Intron NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase NA NA base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) GAGAGTGGTAGGTAGATTGCC 0.383 NA Base excision repair (BER), DNA glycosylases G||| 382 0.076278 0.0008 0.0533 5008 , , NA 16157 0.3056 NA 0.0 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.24-3881G>A chr12.hg19:g.104366815G>A NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 18.972522 GTAxGTA COVERED NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 26 43.340892 KEEP 0 0 0 144 5136 GG 1 1 0 + 14 60 516 0 0 30.812258 466 60 17288 825 ENST00000392872.3 0.029167 1 TDG 6996 __UNKNOWN__ __UNKNOWN__ 12 104380734 104380734 __UNKNOWN__ Missense_Mutation SNP G G A rs2888805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104380734G>A ENST00000392872.3 + 10 1333 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M TDG_ENST00000536395.1_3'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.V363M|TDG_ENST00000544861.1_Missense_Mutation_p.V224M|TDG_ENST00000542036.1_Missense_Mutation_p.V163M NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 367 NA V -> L (in dbSNP:rs2888805).|V -> M (in dbSNP:rs2888805). {ECO:0000269|Ref.2}. base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AGTTGAGAGCGTGGAGTTAAG 0.408 NA Base excision repair (BER), DNA glycosylases G||| 563 0.11242 0.0053 0.111 5008 , , NA 26412 0.2927 NA 0.0944 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 G MET/VAL 97,4309 78.3+/-116.7 0,97,2106 151 129 136 1099 0.2 0 12 dbSNP_101 136 836,7764 191.8+/-238.0 26,784,3490 yes missense TDG NM_003211.4 21 26,881,5596 AA,AG,GG 9.7209,2.2015,7.1736 benign 367/411 104380734 933,12073 2203 4300 6503 SO:0001583 missense U51166 CCDS9095.1 12q24.1 2014-05-14 ENSG00000139372 ENSG00000139372 6996 3.2.2.29 11700 protein-coding gene gene with protein product G/T mismatch-specific thymine DNA glycosylase 601423 NA 8662714, 9299239 Standard NM_003211 NA Approved uc001tkg.3 Q13569 OTTHUMG00000168418 ENST00000392872.3:c.1099G>A chr12.hg19:g.104380734G>A ENSP00000376611:p.Val367Met NA Q8IUZ6|Q8IZM3 hg19 CCDS9095.1 0.02 11.158213 AGCxTGG COVERED 290 0.13278388278388278 4 0.008130081300813009 40 0.11049723756906077 174 0.3041958041958042 72 0.09498680738786279 G 8.454 0.853700 0.17106 0.022015 0.097209 ENSG00000139372 ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036 T;T;T;T 0.22945 2.27;2.27;2.27;1.93 4.59 0.23 0.15372 . 2.260350 0.01803 N 0.033010 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 P;B;B 0.44344 0.833;0.074;0.074 B;B;B 0.31191 0.125;0.003;0.004 T 0.27806 -1.0063 9 0.46703 T 0.11 -1.0119 1.0514 0.01581 0.177:0.308:0.2758:0.2392 rs2888805;rs4135140;rs52799886;rs59502858 163;367;367 B4DI29;B2R848;Q13569 .;.;TDG_HUMAN M 367;363;224;163 ENSP00000376611:V367M;ENSP00000266775:V363M;ENSP00000445899:V224M;ENSP00000439054:V163M ENSP00000266775:V363M V + 1 0 TDG 102904864 0.026000 0.19158 0.001000 0.08648 0.002000 0.02628 0.257000 0.18369 0.022000 0.15160 -0.152000 0.13540 GTG NOVEL TDG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399673.2 13 14.446118 KEEP 3 0 0 48 1678 GG 1 1 0 + 11 60 403 0 0 25.79554 248 60 8560 376 ENST00000392872.3 0.042471 1 GLT8D2 83468 __UNKNOWN__ __UNKNOWN__ 12 104413436 104413436 __UNKNOWN__ De_novo_Start_OutOfFrame SNP C C T rs11553765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:104413436C>T ENST00000547583.1 - 0 395 GLT8D2_ENST00000360814.4_De_novo_Start_OutOfFrame|GLT8D2_ENST00000546436.1_De_novo_Start_OutOfFrame|GLT8D2_ENST00000548660.1_De_novo_Start_OutOfFrame Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 NA NA integral component of membrane (GO:0016021) transferase activity, transferring glycosyl groups (GO:0016757) kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TGTGTATTCACGCGGATAAGA 0.358 NA C||| 601 0.120008 0.0053 0.1138 5008 , , NA 19105 0.3095 NA 0.0994 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 C 99,4307 75.7+/-113.9 2,95,2106 64 61 62 2.5 0.5 12 dbSNP_120 62 881,7719 195.6+/-240.8 44,793,3463 no utr-5 GLT8D2 NM_031302.3 46,888,5569 TT,TC,CC 10.2442,2.2469,7.535 104413436 980,12026 2203 4300 6503 BC022343 CCDS9096.1 12q23.3 2013-02-22 ENSG00000120820 ENSG00000120820 83468 Glycosyltransferase family 8 domain containing 24890 protein-coding gene gene with protein product NA Standard NM_031302 NM_031302 NA Approved FLJ31494 uc001tkh.1 Q9H1C3 OTTHUMG00000170120 ENST00000547583.1:c.-10G>A chr12.hg19:g.104413436C>T NA Q96KA2 hg19 0.02 18.732924 TCAxGCG COVERED NOVEL GLT8D2-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000407377.1 1 28.264184 KEEP 0 0 0 94 3226 CC 1 1 0 - 14 60 514 0 0 30.40046 483 60 16950 734 ENST00000547583.1 0.028169 1 CHST11 50515 __UNKNOWN__ __UNKNOWN__ 12 105155291 105155291 __UNKNOWN__ 3'UTR SNP G G A rs7972699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105155291G>A ENST00000549260.1 + 0 5195 CHST11_ENST00000303694.5_3'UTR NM_001173982.1 NP_001167453.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 NA NA carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659) breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 TCTCAGCTGCGCCATTCTGTG 0.542 NA G||| 493 0.0984425 0.1762 0.036 5008 , , NA 17230 0.2083 NA 0.0179 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB042326 CCDS9099.1, CCDS55878.1 12q23.3 2008-02-05 ENSG00000171310 50515 2.8.2.5 Sulfotransferases, membrane-bound 17422 protein-coding gene gene with protein product 610128 NA 10781601 Standard NM_018413 NM_018413 NA Approved C4ST1, C4St-1, C4ST, HSA269537 uc001tkz.3 Q9NPF2 OTTHUMG00000169803 ENST00000549260.1:c.*3710G>A chr12.hg19:g.105155291G>A NA A8K4F8|Q9NXY6|Q9NY36 hg19 CCDS55878.1 0.02 8.397742 TGCxCCA COVERED NOVEL CHST11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405959.2 5 16.843556 KEEP 0 0 0 56 1833 GG 1 1 0 + 8 60 286 0 0 17.854723 192 60 5947 323 ENST00000549260.1 0.04 1 CHST11 50515 __UNKNOWN__ __UNKNOWN__ 12 105155627 105155627 __UNKNOWN__ 3'UTR SNP A A G rs1048662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105155627A>G ENST00000549260.1 + 0 5531 CHST11_ENST00000303694.5_3'UTR NM_001173982.1 NP_001167453.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 NA NA carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659) breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 TGCAGTAGAGAGCCTGTTGTA 0.388 NA G||| 688 0.13738 0.2995 0.0533 5008 , , NA 18910 0.2262 NA 0.0179 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB042326 CCDS9099.1, CCDS55878.1 12q23.3 2008-02-05 ENSG00000171310 50515 2.8.2.5 Sulfotransferases, membrane-bound 17422 protein-coding gene gene with protein product 610128 NA 10781601 Standard NM_018413 NM_018413 NA Approved C4ST1, C4St-1, C4ST, HSA269537 uc001tkz.3 Q9NPF2 OTTHUMG00000169803 ENST00000549260.1:c.*4046A>G chr12.hg19:g.105155627A>G NA A8K4F8|Q9NXY6|Q9NY36 hg19 CCDS55878.1 0.02 9.508894 GAGxGCC COVERED NOVEL CHST11-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405959.2 1 9.025632 KEEP 0 0 0 30 944 AA 0.999997 0.999997 0 + 12 60 446 0 0 30.358581 198 60 7109 266 ENST00000549260.1 0.057143 1 C12orf45 121053 __UNKNOWN__ __UNKNOWN__ 12 105388181 105388181 __UNKNOWN__ Intron SNP C C A rs11112287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105388181C>A ENST00000280749.5 + 3 216 C12orf45_ENST00000552951.1_Intron Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 NA NA large_intestine(1)|lung(2) 3 AATGTTGGTTCTTCCCAATAT 0.383 NA A||| 1542 0.307907 0.469 0.2075 5008 , , NA 22148 0.498 NA 0.1332 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC032326 CCDS41825.1 12q23.3 2012-05-30 ENSG00000151131 ENSG00000151131 121053 28628 protein-coding gene gene with protein product NA 12477932 Standard NM_152318 NM_152318 NA Approved MGC40397 uc001tlb.3 Q8N5I9 OTTHUMG00000169822 ENST00000280749.5:c.202-75C>A chr12.hg19:g.105388181C>A NA hg19 0.02 3.923857 GTTxTTC COVERED NOVEL C12orf45-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000406077.1 1 4.212858 KEEP 0 0 0 14 452 CC 0.995343 0.995342 0 + 7 60 237 0 0 15.460219 113 60 4142 137 ENST00000280749.5 0.058333 0.999999 ALDH1L2 160428 __UNKNOWN__ __UNKNOWN__ 12 105414936 105414936 __UNKNOWN__ 3'UTR SNP G G A rs12582090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105414936G>A ENST00000258494.9 - 0 6178 C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 NA NA 10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 aggtaaatacgttggactttg 0.468 NA G||| 274 0.0547125 0.0779 0.0288 5008 , , NA 22210 0.1389 NA 0.004 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095827 CCDS31891.1 12q23.3 2014-09-11 ENSG00000136010 ENSG00000136010 160428 1.5.1.6 Aldehyde dehydrogenases 26777 protein-coding gene gene with protein product mitochondrial 10-formyltetrahydrofolate dehydrogenase 613584 NA 20498374 Standard XM_090294 NM_001034173 NA Approved FLJ38508, mtFDH uc001tlc.3 Q3SY69 OTTHUMG00000169823 ENST00000258494.9:c.*3266C>T chr12.hg19:g.105414936G>A NA Q3SY68|Q68D62|Q6AI55|Q8N922 hg19 CCDS31891.1 0.02 4.540026 TACxTTG COVERED NOVEL ALDH1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406098.1 0 7.22294 KEEP 0 0 0 24 817 GG 0.999909 0.999907 0 - 5 60 198 0 0 13.19819 113 60 4023 164 ENST00000258494.9 0.042373 0.999998 ALDH1L2 160428 __UNKNOWN__ __UNKNOWN__ 12 105418294 105418294 __UNKNOWN__ Intron SNP G G A rs7304326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105418294G>A ENST00000258494.9 - 23 2857 C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 NA NA 10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 ACCACATTCAGAGGCAGACAT 0.443 NA A||| 1485 0.296526 0.4304 0.2032 5008 , , NA 24485 0.497 NA 0.1332 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 A 1682,2724 654.1+/-399.7 316,1050,837 119 100 107 -0.3 0 12 dbSNP_116 107 1050,7550 769.9+/-407.6 66,918,3316 no intron ALDH1L2 NM_001034173.3 382,1968,4153 AA,AG,GG 12.2093,38.1752,21.0057 105418294 2732,10274 2203 4300 6503 SO:0001627 intron_variant AK095827 CCDS31891.1 12q23.3 2014-09-11 ENSG00000136010 ENSG00000136010 160428 1.5.1.6 Aldehyde dehydrogenases 26777 protein-coding gene gene with protein product mitochondrial 10-formyltetrahydrofolate dehydrogenase 613584 NA 20498374 Standard XM_090294 NM_001034173 NA Approved FLJ38508, mtFDH uc001tlc.3 Q3SY69 OTTHUMG00000169823 ENST00000258494.9:c.2717-37C>T chr12.hg19:g.105418294G>A NA Q3SY68|Q68D62|Q6AI55|Q8N922 hg19 CCDS31891.1 0.02 14.078043 TCAxAGG COVERED NOVEL ALDH1L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406098.1 2 17.154887 KEEP 0 0 0 57 1970 GG 1 1 0 - 15 60 533 0 0 33.427451 343 60 12816 452 ENST00000258494.9 0.041899 1 APPL2 55198 __UNKNOWN__ __UNKNOWN__ 12 105583877 105583877 __UNKNOWN__ Missense_Mutation SNP G G A rs2272495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105583877G>A ENST00000258530.3 - 15 1523 c.1298C>T c.(1297-1299)gCa>gTa p.A433V APPL2_ENST00000539978.2_Missense_Mutation_p.A390V|APPL2_ENST00000551662.1_Missense_Mutation_p.A439V NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q06481 APLP2_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 0 NA cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACTGGCTGTTGCTTTGGGAAC 0.423 NA G||| 938 0.1873 0.1044 0.2464 5008 , , NA 20710 0.2599 NA 0.1869 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 118 109 112 NA NA 12 NA 105583877 2203 4300 6503 SO:0001583 missense AY113704 CCDS9101.1, CCDS58275.1, CCDS58276.1 12q23.3 2014-08-12 ENSG00000136044 ENSG00000136044 55198 Pleckstrin homology (PH) domain containing 18242 protein-coding gene gene with protein product 606231 NA 11431708, 17030088 Standard NM_018171 NM_001251904 NA Approved FLJ10659, DIP13B uc010swu.1 Q8NEU8 OTTHUMG00000169853 ENST00000258530.3:c.1298C>T chr12.hg19:g.105583877G>A ENSP00000258530:p.Ala433Val NA B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36 hg19 CCDS9101.1 0.02 8.229936 GTTxCTT COVERED 418 0.19139194139194138 50 0.1016260162601626 84 0.23204419889502761 150 0.26223776223776224 134 0.17678100263852242 G 12.58 1.981480 0.34942 . . ENSG00000136044 ENST00000258530;ENST00000539978;ENST00000551662 T;T;T 0.23348 2.71;1.91;2.49 5.46 4.51 0.55191 . 0.502179 0.22067 N 0.065091 T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 B;B;B 0.20261 0.043;0.025;0.025 B;B;B 0.24541 0.054;0.015;0.022 T 0.28106 -1.0054 9 0.33141 T 0.24 -10.4262 8.5015 0.33161 0.0:0.1206:0.5073:0.3722 rs2272495;rs17853203;rs56646590;rs60975777;rs2272495 439;390;433 F8W1P5;B7Z1Q8;Q8NEU8 .;.;DP13B_HUMAN V 433;390;439 ENSP00000258530:A433V;ENSP00000444472:A390V;ENSP00000446917:A439V ENSP00000258530:A433V A - 2 0 APPL2 104108007 0.020000 0.18652 0.027000 0.17364 0.024000 0.10985 1.438000 0.35002 2.557000 0.86248 0.563000 0.77884 GCA NOVEL APPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406238.3 2 22.233492 KEEP 0 0 0 74 2554 GG 1 1 0 - 8 60 282 0 0 16.785443 234 60 8712 403 ENST00000258530.3 0.033058 1 APPL2 55198 __UNKNOWN__ __UNKNOWN__ 12 105600935 105600935 __UNKNOWN__ Silent SNP G G A rs2293643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:105600935G>A ENST00000258530.3 - 8 750 c.525C>T c.(523-525)caC>caT p.H175H APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Silent_p.H132H|APPL2_ENST00000551662.1_Silent_p.H181H NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q06481 APLP2_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 0 NA cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 GGGAGGAGAGGTGCTGCTTCC 0.532 NA G||| 919 0.183506 0.0787 0.2421 5008 , , NA 19223 0.2599 NA 0.1879 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 G 383,4023 192.6+/-218.0 19,345,1839 89 80 83 525 3 1 12 dbSNP_100 83 1701,6899 312.7+/-311.0 167,1367,2766 no coding-synonymous APPL2 NM_018171.3 186,1712,4605 AA,AG,GG 19.7791,8.6927,16.0234 175/665 105600935 2084,10922 2203 4300 6503 SO:0001819 synonymous_variant AY113704 CCDS9101.1, CCDS58275.1, CCDS58276.1 12q23.3 2014-08-12 ENSG00000136044 ENSG00000136044 55198 Pleckstrin homology (PH) domain containing 18242 protein-coding gene gene with protein product 606231 NA 11431708, 17030088 Standard NM_018171 NM_001251904 NA Approved FLJ10659, DIP13B uc010swu.1 Q8NEU8 OTTHUMG00000169853 ENST00000258530.3:c.525C>T chr12.hg19:g.105600935G>A NA B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36 hg19 CCDS9101.1 0.02 3.99604 GAGxTGC COVERED NOVEL APPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406238.3 1 11.977264 KEEP 0 0 0 40 1405 GG 1 1 0 - 6 60 193 0 0 11.371645 140 60 5188 237 ENST00000258530.3 0.041096 1 NUAK1 9891 __UNKNOWN__ __UNKNOWN__ 12 106458579 106458579 __UNKNOWN__ 3'UTR SNP C C A rs1044694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:106458579C>A ENST00000261402.2 - 0 5366 NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 NA NA cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 CCACCCCCCCCCACACACACA 0.468 NA A||| 818 0.163339 0.1664 0.0778 5008 , , NA 12795 0.2401 NA 0.1153 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011109 CCDS31892.1 12q23.3 2005-08-09 ENSG00000074590 9891 14311 protein-coding gene gene with protein product AMP-activated protein kinase family member 5 608130 NA 12409306, 13679856 Standard NM_014840 NM_014840 NA Approved ARK5, KIAA0537, NuaK1 uc001tlj.1 O60285 OTTHUMG00000169763 ENST00000261402.2:c.*2001G>T chr12.hg19:g.106458579C>A NA A7MD39|Q96KA8 hg19 CCDS31892.1 0.02 -0.429885 CCCxCAC COVERED NOVEL NUAK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405767.2 1 3.912575 KEEP 0 0 0 13 453 CC 0.994391 0.949137 0 - 4 60 135 2 0 9.548501 41 60 1519 80 ENST00000261402.2 0.088889 0.954491 NUAK1 9891 __UNKNOWN__ __UNKNOWN__ 12 106466490 106466490 __UNKNOWN__ Intron SNP A A C rs73193828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:106466490A>C ENST00000261402.2 - 5 2079 NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 NA NA cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 ACACATTGGGAAAGCTGCTCA 0.488 NA C||| 1006 0.200879 0.1195 0.0908 5008 , , NA 17755 0.494 NA 0.0905 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 C 572,3834 772.8+/-413.9 38,496,1669 67 64 65 3.2 0 12 dbSNP_130 65 640,7960 790.3+/-407.6 19,602,3679 no intron NUAK1 NM_014840.2 57,1098,5348 CC,CA,AA 7.4419,12.9823,9.3188 106466490 1212,11794 2203 4300 6503 SO:0001627 intron_variant AB011109 CCDS31892.1 12q23.3 2005-08-09 ENSG00000074590 9891 14311 protein-coding gene gene with protein product AMP-activated protein kinase family member 5 608130 NA 12409306, 13679856 Standard NM_014840 NM_014840 NA Approved ARK5, KIAA0537, NuaK1 uc001tlj.1 O60285 OTTHUMG00000169763 ENST00000261402.2:c.699+11T>G chr12.hg19:g.106466490A>C NA A7MD39|Q96KA8 hg19 CCDS31892.1 0.02 1.939701 GGGxAAG COVERED NOVEL NUAK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405767.2 0 4.849117 KEEP 0 1 34 28 876 AA 0.999997 0.999937 0 - 8 60 291 0 0 20.937269 89 60 3091 136 ENST00000261402.2 0.082474 0.99994 BTBD11 121551 __UNKNOWN__ __UNKNOWN__ 12 107712440 107712440 __UNKNOWN__ 5'UTR SNP A A G rs1107438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:107712440A>G ENST00000280758.5 + 0 251 BTBD11_ENST00000420571.2_5'UTR NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 NA NA integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGAAAGGGGCAAGCCCCGGCG 0.637 NA A||| 1586 0.316693 0.4826 0.3098 5008 , , NA 13516 0.3026 NA 0.174 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK091276 CCDS31893.1, CCDS41827.1 12q24.11 2013-10-02 ENSG00000151136 ENSG00000151136 121551 BTB/POZ domain containing, Ankyrin repeat domain containing 23844 protein-coding gene gene with protein product NA Standard NM_152322 XM_005268645 NA Approved FLJ33957, ABTB2B uc001tmk.1 A6QL63 OTTHUMG00000150413 ENST00000280758.5:c.-278A>G chr12.hg19:g.107712440A>G NA A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245 hg19 CCDS31893.1 0.02 16.163017 GGCxAGC COVERED NOVEL BTBD11-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318003.1 2 14.440087 KEEP 0 0 0 48 1443 AA 1 1 0 + 13 60 444 0 0 25.685915 391 60 14136 579 ENST00000280758.5 0.032178 1 PRDM4 11108 __UNKNOWN__ __UNKNOWN__ 12 108127965 108127965 __UNKNOWN__ 3'UTR SNP A A G rs17306603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:108127965A>G ENST00000228437.5 - 0 2887 NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 NA NA cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TTTTCATCCAAAATTGCTTGT 0.333 NA A||| 1104 0.220447 0.0227 0.2608 5008 , , NA 20194 0.12 NA 0.4175 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 A 357,4049 176.9+/-206.0 14,329,1860 73 75 74 1.8 0 12 dbSNP_123 74 3506,5094 499.3+/-375.0 712,2082,1506 no utr-3 PRDM4 NM_012406.3 726,2411,3366 GG,GA,AA 40.7674,8.1026,29.7017 108127965 3863,9143 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF144757 CCDS9115.1 12q23-q24.1 2013-01-08 ENSG00000110851 11108 Zinc fingers, C2H2-type 9348 protein-coding gene gene with protein product 605780 NA 10552934 Standard NM_012406 NM_012406 NA Approved PFM1 uc001tmp.3 Q9UKN5 OTTHUMG00000169914 ENST00000228437.5:c.*22T>C chr12.hg19:g.108127965A>G NA Q9UFA6 hg19 CCDS9115.1 0.02 15.895441 CCAxAAT COVERED NOVEL PRDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406546.1 2 10.833537 KEEP 0 0 0 36 1173 AA 0.999999 0.999999 0 - 13 60 486 0 0 30.411793 354 60 12585 460 ENST00000228437.5 0.035422 1 PRDM4 11108 __UNKNOWN__ __UNKNOWN__ 12 108140032 108140032 __UNKNOWN__ Intron SNP T T C rs3803120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:108140032T>C ENST00000228437.5 - 6 1736 RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 NA NA cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 AATAGTGTTTTACAGTTCCAA 0.388 NA T||| 1109 0.221446 0.0257 0.2608 5008 , , NA 18607 0.12 NA 0.4185 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 T 366,4040 185.0+/-212.2 15,336,1852 82 80 81 0 0 12 dbSNP_107 81 3509,5091 510.9+/-377.6 710,2089,1501 no intron PRDM4 NM_012406.3 725,2425,3353 CC,CT,TT 40.8023,8.3069,29.7939 108140032 3875,9131 2203 4300 6503 SO:0001627 intron_variant AF144757 CCDS9115.1 12q23-q24.1 2013-01-08 ENSG00000110851 11108 Zinc fingers, C2H2-type 9348 protein-coding gene gene with protein product 605780 NA 10552934 Standard NM_012406 NM_012406 NA Approved PFM1 uc001tmp.3 Q9UKN5 OTTHUMG00000169914 ENST00000228437.5:c.1276+19A>G chr12.hg19:g.108140032T>C NA Q9UFA6 hg19 CCDS9115.1 0.02 10.283967 TTTxACA COVERED NOVEL PRDM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000406546.1 0 14.1379 KEEP 0 0 0 47 1388 TT 1 1 0 - 7 60 286 0 0 18.414865 217 60 7795 331 ENST00000228437.5 0.03125 1 WSCD2 9671 __UNKNOWN__ __UNKNOWN__ 12 108643977 108643977 __UNKNOWN__ 3'UTR SNP A A G rs60876553 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:108643977A>G ENST00000332082.4 + 0 4373 WSCD2_ENST00000261400.3_3'UTR Q2TBF2 WSCD2_HUMAN WSC domain containing 2 NA NA integral component of membrane (GO:0016021) breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 gtgtgtgtgtatgagagagag 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS41828.1 12q23.3 2008-02-05 ENSG00000075035 9671 29117 protein-coding gene gene with protein product NA Standard NM_014653 NM_014653 NA Approved KIAA0789 uc001tms.3 Q2TBF2 ENST00000332082.4:c.*1857A>G chr12.hg19:g.108643977A>G NA B2RN48|B4DES1|Q8IY35|Q9Y4B7 hg19 CCDS41828.1 0.02 1.983773 TGTxTGA COVERED NOVEL WSCD2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405554.1 3 2.706674 KEEP 0 0 0 9 252 AT 0.992708 0.99259 0 + 9 60 224 1 1 14.121047 82 60 2543 109 ENST00000332082.4 0.098901 0.999881 SSH1 54434 __UNKNOWN__ __UNKNOWN__ 12 109178808 109178808 __UNKNOWN__ 3'UTR SNP C C T rs3741779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109178808C>T ENST00000326495.5 - 0 6199 SSH1_ENST00000360239.3_3'UTR NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 NA NA actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886) actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGTTACAGTGCAAACTTCCTT 0.443 NA C||| 700 0.139776 0.115 0.2752 5008 , , NA 22064 0.248 NA 0.0288 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC062341 CCDS9121.1, CCDS53825.1, CCDS55882.1 12q24.12 2013-03-05 2013-03-05 ENSG00000084112 54434 Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots 30579 protein-coding gene gene with protein product 606778 slingshot homolog 1 (Drosophila) NA 10718198, 11832213 Standard NM_018984 NM_018984 NA Approved KIAA1298 uc001tnm.3 Q8WYL5 OTTHUMG00000169371 ENST00000326495.5:c.*2956G>A chr12.hg19:g.109178808C>T NA Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8 hg19 CCDS9121.1 0.02 4.112421 GTGxAAA COVERED NOVEL SSH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403724.1 1 13.845307 KEEP 0 0 0 46 1651 CC 1 1 0 - 6 60 208 0 0 12.840136 138 60 5164 232 ENST00000326495.5 0.041667 1 SVOP 55530 __UNKNOWN__ __UNKNOWN__ 12 109339023 109339023 __UNKNOWN__ Intron SNP C C T rs36191519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109339023C>T ENST00000299134.5 - 5 382 NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) NA NA cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021) ion transmembrane transporter activity (GO:0015075) breast(2)|lung(4) 6 AATTTGCAGCCGACATtcctc 0.463 NA C||| 2562 0.511581 0.3873 0.4092 5008 , , NA 17849 0.5149 NA 0.6113 False NA ,,, NA NA NA 2504 0.6462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC033587 CCDS73520.1 12q24.11 2011-07-12 ENSG00000166111 55530 25417 protein-coding gene gene with protein product 611699 NA Standard NM_018711 NM_018711 NA Approved DKFZp761H039 uc010sxh.1 Q8N4V2 ENST00000299134.5:c.383-81G>A chr12.hg19:g.109339023C>T NA Q9NPW5 hg19 0.02 8.235838 AGCxGAC COVERED NOVEL SVOP-001 KNOWN mRNA_start_NF|cds_start_NF|basic protein_coding NA protein_coding OTTHUMT00000403982.1 1 4.38529 KEEP 0 2 46 31 1063 CC 0.999998 0.999998 0 - 9 60 333 0 0 21.104352 221 60 7730 325 ENST00000299134.5 0.03913 1 UNG 7374 __UNKNOWN__ __UNKNOWN__ 12 109547586 109547586 __UNKNOWN__ Intron SNP A A T rs71079524|rs2878959|rs71539694|rs557897280 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109547586A>T ENST00000242576.2 + 7 907 UNG_ENST00000336865.2_Intron NM_080911.2 NP_550433.1 uracil-DNA glycosylase NA NA central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 aaaaaaaaaaaTTTAAAAAGT 0.463 NA Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM NA NA NA NA NA NA NA NA NA NA 0 T , 270,4136 22,226,1955 43 48 46 , -0.3 0 12 dbSNP_101 46 261,8339 35,191,4074 no intron,intron UNG NM_003362.3,NM_080911.2 , 57,417,6029 TT,TA,AA 3.0349,6.128,4.0827 , , 109547586 531,12475 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM A64377 CCDS9124.1, CCDS9125.1 12q23-q24.1 2014-09-17 ENSG00000076248 ENSG00000076248 7374 3.2.2.27 12572 protein-coding gene gene with protein product uracil-DNA glycosylase 1, uracil-DNA glycosylase 2 191525 DGU NA 1923798, 17101234 Standard NM_080911 NM_080911 NA Approved UDG, UNG1, UNG2, HIGM4 uc001tnz.2 P13051 OTTHUMG00000169247 ENST00000242576.2:c.802-48A>T chr12.hg19:g.109547586A>T NA hg19 CCDS9124.1 0.02 5.928673 AAAxTTT COVERED NOVEL UNG-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403067.1 18 51.043666 KEEP 3 4 85 201 5799 AA 1 1 0 + 7 60 217 0 2 13.27597 125 60 3756 493 ENST00000242576.2 0.05303 1 ACACB 32 __UNKNOWN__ __UNKNOWN__ 12 109686782 109686782 __UNKNOWN__ Intron SNP G G C rs2284685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109686782G>C ENST00000338432.7 + 41 5788 ACACB_ENST00000543201.1_Intron|ACACB_ENST00000377848.3_Intron|ACACB_ENST00000377854.5_Intron O00763 ACACB_HUMAN acetyl-CoA carboxylase beta NA NA acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Adenine(DB00173)|Biotin(DB00121) GGCCGAGGGTGATATTTCACT 0.423 NA G||| 1392 0.277955 0.1589 0.3213 5008 , , NA 19189 0.2827 NA 0.4066 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U89344 CCDS31898.1 12q24.1 2010-05-07 2010-04-30 ENSG00000076555 ENSG00000076555 32 6.4.1.2 85 protein-coding gene gene with protein product acetyl-CoA carboxylase 2 601557 acetyl-Coenzyme A carboxylase beta NA 8670171 Standard NM_001093 NM_001093 NA Approved HACC275, ACC2, ACCB uc001toc.3 O00763 OTTHUMG00000169250 ENST00000338432.7:c.5670-1007G>C chr12.hg19:g.109686782G>C NA A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48 hg19 CCDS31898.1 0.02 16.737622 GGTxATA COVERED NOVEL ACACB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403077.1 1 2.34983 KEEP 0 4 138 56 1912 GG 1 1 0 + 14 60 542 0 0 35.150643 348 60 12655 530 ENST00000338432.7 0.038674 1 FOXN4 121643 __UNKNOWN__ __UNKNOWN__ 12 109716331 109716331 __UNKNOWN__ 3'UTR SNP G G A rs11066073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109716331G>A ENST00000299162.5 - 0 2803 FOXN4_ENST00000355216.1_3'UTR NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 NA NA amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579) nucleus (GO:0005634) chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(5)|lung(9)|ovary(2) 16 AAAGGGAGGTGAGGAAGTGCC 0.473 NA G||| 1494 0.298323 0.149 0.3386 5008 , , NA 19090 0.2778 NA 0.4881 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF425596 CCDS9126.2 12q24.12 2008-02-05 ENSG00000139445 ENSG00000139445 121643 Forkhead boxes 21399 protein-coding gene gene with protein product 609429 NA Standard XM_062735 NM_213596 NA Approved uc001toe.4 Q96NZ1 OTTHUMG00000152868 ENST00000299162.5:c.*1145C>T chr12.hg19:g.109716331G>A NA Q6ZMR4|Q96NZ0 hg19 CCDS9126.2 0.02 5.731913 GGTxAGG COVERED NOVEL FOXN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328306.1 0 11.304904 KEEP 0 2 58 58 2009 GG 1 1 0 - 6 60 206 0 0 12.127754 169 60 6214 284 ENST00000299162.5 0.034286 1 FOXN4 121643 __UNKNOWN__ __UNKNOWN__ 12 109717210 109717210 __UNKNOWN__ 3'UTR SNP G G A rs2075438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109717210G>A ENST00000299162.5 - 0 1924 FOXN4_ENST00000355216.1_3'UTR NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 NA NA amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579) nucleus (GO:0005634) chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700) large_intestine(5)|lung(9)|ovary(2) 16 TCAAGGGGTCGGGGGATGCTG 0.607 NA G||| 1504 0.300319 0.149 0.3401 5008 , , NA 16886 0.2857 NA 0.4871 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF425596 CCDS9126.2 12q24.12 2008-02-05 ENSG00000139445 ENSG00000139445 121643 Forkhead boxes 21399 protein-coding gene gene with protein product 609429 NA Standard XM_062735 NM_213596 NA Approved uc001toe.4 Q96NZ1 OTTHUMG00000152868 ENST00000299162.5:c.*266C>T chr12.hg19:g.109717210G>A NA Q6ZMR4|Q96NZ0 hg19 CCDS9126.2 0.02 6.950694 GTCxGGG COVERED NOVEL FOXN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328306.1 1 15.046799 KEEP 0 0 0 50 1716 GG 1 1 0 - 8 60 289 0 0 18.915542 153 60 5437 266 ENST00000299162.5 0.049689 1 MYO1H 283446 __UNKNOWN__ __UNKNOWN__ 12 109849562 109849562 __UNKNOWN__ Intron SNP C C G rs572228733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109849562C>G ENST00000310903.5 + 14 1468 MYO1H_ENST00000431443.2_Intron Q8N1T3 MYO1H_HUMAN myosin IH NA NA myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CTTCTTCCCCCCAGAATGTTC 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS53826.1 12q24.11 2011-09-27 ENSG00000174527 ENSG00000174527 283446 Myosins / Myosin superfamily : Class I 13879 protein-coding gene gene with protein product 614636 NA Standard NM_173597 NM_001101421 NA Approved FLJ37587 uc010sxn.1 Q8N1T3 OTTHUMG00000169252 ENST00000310903.5:c.1363-137C>G chr12.hg19:g.109849562C>G NA F5H3C6 hg19 CCDS53826.1 0.02 1.996996 CCCxCAG COVERED NOVEL MYO1H-001 PUTATIVE not_organism_supported|upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403092.2 1 2.407262 KEEP 0 0 0 8 259 CC 0.99257 0.972249 0 + 4 60 135 0 0 9.153404 52 70 1852 67 ENST00000310903.5 0.071429 0.979526 UBE3B 89910 __UNKNOWN__ __UNKNOWN__ 12 109949042 109949042 __UNKNOWN__ Silent SNP C C T rs3742019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:109949042C>T ENST00000342494.3 + 18 2485 c.1890C>T c.(1888-1890)ctC>ctT p.L630L UBE3B_ENST00000434735.2_Silent_p.L630L|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Silent_p.L630L NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 630 NA protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TCCAAGAACTCGACAGGGACA 0.502 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 24687 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 166 131 143 NA NA 12 NA 109949042 2203 4300 6503 SO:0001819 synonymous_variant BC032301 CCDS9129.1, CCDS58277.1 12q24.12 2004-03-02 ENSG00000151148 ENSG00000151148 89910 13478 protein-coding gene gene with protein product 608047 NA Standard NM_183415 NM_130466 NA Approved uc001toq.4 Q7Z3V4 OTTHUMG00000169254 ENST00000342494.3:c.1890C>T chr12.hg19:g.109949042C>T NA A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4 hg19 CCDS9129.1 0.02 7.675221 ACTxGAC COVERED NOVEL UBE3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403119.1 2 24.37126 KEEP 0 0 0 81 2707 CC 1 1 0 + 7 60 249 0 0 14.547637 230 60 8166 407 ENST00000342494.3 0.029536 1 TRPV4 59341 __UNKNOWN__ __UNKNOWN__ 12 110226379 110226379 __UNKNOWN__ Silent SNP G G A rs3742037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:110226379G>A ENST00000418703.2 - 12 2128 c.2034C>T c.(2032-2034)atC>atT p.I678I TRPV4_ENST00000536838.1_Silent_p.I644I|TRPV4_ENST00000346520.2_Silent_p.I618I|TRPV4_ENST00000544971.1_Silent_p.I571I|TRPV4_ENST00000541794.1_Silent_p.I631I|TRPV4_ENST00000537083.1_Silent_p.I618I|TRPV4_ENST00000261740.2_Silent_p.I678I|TRPV4_ENST00000392719.2_Silent_p.I631I NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 678 NA actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103) adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CGCCCATGCCGATGGTCAGCT 0.572 NA G||| 903 0.180312 0.1059 0.2738 5008 , , NA 23121 0.1905 NA 0.1352 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 G ,,,, 494,3912 232.6+/-246.1 32,430,1741 240 175 197 1893,1932,1713,2034,1854 1.3 1 12 dbSNP_107 197 1200,7400 243.6+/-273.1 95,1010,3195 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TRPV4 NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2 ,,,, 127,1440,4936 AA,AG,GG 13.9535,11.212,13.0248 ,,,, 631/825,644/838,571/765,678/872,618/812 110226379 1694,11312 2203 4300 6503 SO:0001819 synonymous_variant AF263523 CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1 12q24.1 2014-09-17 ENSG00000111199 59341 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18083 protein-coding gene gene with protein product osmosensitive transient receptor potential channel 4 605427 NA 11025659, 11081638, 16382100, 20037587 Standard NM_021625 NM_147204 NA Approved OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C uc001tpk.2 Q9HBA0 ENST00000418703.2:c.2034C>T chr12.hg19:g.110226379G>A NA B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0 hg19 CCDS9134.1 0.02 19.538663 GCCxATG COVERED NOVEL TRPV4-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403270.1 4 4.785904 KEEP 0 2 66 39 1340 GG 1 1 0 - 18 60 649 0 0 40.494103 443 60 15870 609 ENST00000418703.2 0.039046 1 TCHP 84260 __UNKNOWN__ __UNKNOWN__ 12 110350582 110350582 __UNKNOWN__ Intron SNP C C T rs57670972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:110350582C>T ENST00000312777.5 + 10 1266 TCHP_ENST00000405876.4_Intron NM_032300.4 NP_115676.1 trichoplein, keratin filament binding NA NA NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 ggcaacagagcgagacccatc 0.453 NA C||| 184 0.0367412 0.0772 0.0086 5008 , , NA 21203 0.0069 NA 0.008 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK092736 CCDS9137.1 12q24.11 2011-08-25 2006-01-27 ENSG00000139437 84260 28135 protein-coding gene gene with protein product mitostatin 612654 NA 15731013, 20930847 Standard NM_032300 NM_032300 NA Approved MGC10854, TpMs uc001tpn.3 Q9BT92 ENST00000312777.5:c.1053-214C>T chr12.hg19:g.110350582C>T NA hg19 CCDS9137.1 0.02 -0.096497 GAGxGAG UNCOVERED NOVEL TCHP-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403289.1 3 2.407731 KEEP 0 0 0 8 275 CC 0.99257 0.119541 0 + 5 60 168 0 0 15.893697 6 60 200 22 ENST00000312777.5 0.454545 0.120436 GIT2 9815 __UNKNOWN__ __UNKNOWN__ 12 110427584 110427584 __UNKNOWN__ Silent SNP G G A rs147269746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:110427584G>A ENST00000320063.9 - 3 276 c.210C>T c.(208-210)aaC>aaT p.N70N GIT2_ENST00000553118.1_Silent_p.N70N|GIT2_ENST00000551209.1_Silent_p.N70N|GIT2_ENST00000547815.1_Silent_p.N70N|GIT2_ENST00000354574.4_Silent_p.N70N|GIT2_ENST00000361006.5_Silent_p.N70N|GIT2_ENST00000343646.5_Silent_p.N70N|GIT2_ENST00000355312.3_Silent_p.N70N|GIT2_ENST00000338373.5_Silent_p.N70N|GIT2_ENST00000457474.2_Silent_p.N70N|GIT2_ENST00000360185.4_Silent_p.N70N|GIT2_ENST00000356259.4_Silent_p.N70N Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 70 Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}. NA behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277) focal adhesion (GO:0005925)|nucleoplasm (GO:0005654) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 AGTTAGCACCGTTATTATACA 0.393 NA g||| 9 0.00179712 0.0 0.0 5008 , , NA 20004 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 117 111 113 NA NA 12 NA 110427584 2203 4300 6503 SO:0001819 synonymous_variant AF124491 CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1 12q24.1 2013-01-10 2008-09-05 ENSG00000139436 9815 ADP-ribosylation factor GTPase activating proteins, Ankyrin repeat domain containing 4273 protein-coding gene gene with protein product 608564 G protein-coupled receptor kinase interactor 2 NA 9826657, 10896954 Standard NM_057169 NM_139201 NA Approved KIAA0148 uc001tps.2 Q14161 OTTHUMG00000169313 ENST00000320063.9:c.210C>T chr12.hg19:g.110427584G>A NA Q86U59|Q96CI2|Q9BV91|Q9Y5V2 hg19 0.02 13.633179 ACCxTTA COVERED NOVEL GIT2-007 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403420.1 0 21.20307 KEEP 0 1 30 81 2814 GG 1 1 0 - 10 60 384 0 0 24.034847 297 60 10735 510 ENST00000320063.9 0.032573 1 IFT81 28981 __UNKNOWN__ __UNKNOWN__ 12 110606959 110606959 __UNKNOWN__ Intron SNP C C G rs11065273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:110606959C>G ENST00000242591.5 + 11 1694 IFT81_ENST00000361948.4_3'UTR|IFT81_ENST00000552912.1_Intron NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 NA NA cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283) centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228) tubulin binding (GO:0015631) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 cctagatgatcagctcctagt 0.418 NA C||| 1366 0.272764 0.0287 0.2061 5008 , , NA 16982 0.6825 NA 0.3022 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139540 CCDS9142.1, CCDS41831.1 12q24.13 2014-07-03 2014-07-03 2005-11-02 ENSG00000122970 28981 Intraflagellar transport homologs 14313 protein-coding gene gene with protein product 605489 carnitine deficiency-associated, expressed in ventricle 1, intraflagellar transport 81 homolog (Chlamydomonas) CDV1 NA 11130971 Standard NM_014055 NM_014055 NA Approved CDV-1R, MGC4027 uc001tqi.3 Q8WYA0 OTTHUMG00000169326 ENST00000242591.5:c.1188+6089C>G chr12.hg19:g.110606959C>G NA Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8 hg19 CCDS41831.1 0.02 -0.429882 GATxAGC COVERED NOVEL IFT81-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403529.1 2 5.116701 KEEP 0 0 0 17 603 CC 0.999366 0.953887 0 + 3 60 113 0 0 7.831041 46 60 1740 86 ENST00000242591.5 0.061224 0.954491 PPTC7 160760 __UNKNOWN__ __UNKNOWN__ 12 110973846 110973846 __UNKNOWN__ 3'UTR SNP A A C rs3825391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:110973846A>C ENST00000354300.3 - 0 2199 NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) NA NA mitochondrion (GO:0005739) metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721) endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 GCTCTATAGAAAGCAAGGCTA 0.478 NA A||| 1171 0.233826 0.0098 0.2046 5008 , , NA 18180 0.5337 NA 0.2982 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF385435 CCDS9149.1 12q24.11 2009-11-05 ENSG00000196850 160760 30695 protein-coding gene gene with protein product T cell activation protein phosphatase 2C 609668 NA 15177553 Standard NM_139283 NM_139283 NA Approved TA-PP2C uc001trh.1 Q8NI37 OTTHUMG00000169529 ENST00000354300.3:c.*996T>G chr12.hg19:g.110973846A>C NA B3KWC5|Q68DZ7|Q6UY82 hg19 CCDS9149.1 0.02 6.612496 AGAxAGC COVERED NOVEL PPTC7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404635.1 2 14.441295 KEEP 0 0 0 48 1475 AA 1 1 0 - 6 60 227 0 0 14.555651 148 60 5338 240 ENST00000354300.3 0.038961 1 ATXN2 6311 __UNKNOWN__ __UNKNOWN__ 12 111907925 111907925 __UNKNOWN__ Silent SNP C C T rs78969161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:111907925C>T ENST00000542287.2 - 20 2670 c.2508G>A c.(2506-2508)acG>acA p.T836T ATXN2_ENST00000608853.1_Silent_p.T941T|ATXN2_ENST00000377617.3_Silent_p.T1101T|ATXN2_ENST00000389153.4_Silent_p.T838T|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.T812T Q99700 ATX2_HUMAN ataxin 2 1101 NA cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802) epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 ACATCGCATGCGTCTGCTCAT 0.433 NA C||| 10 0.00199681 0.0 0.0 5008 , , NA 18169 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 205 161 176 NA NA 12 NA 111907925 2203 4300 6503 SO:0001819 synonymous_variant U80749 CCDS31902.1 12q23-q24.1 2014-09-17 2004-08-12 2004-08-13 ENSG00000204842 ENSG00000204842 6311 Ataxins 10555 protein-coding gene gene with protein product trinucleotide repeat containing 13 601517 spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2) SCA2, TNRC13 NA 8358438, 9225980 Standard NM_002973 NM_002973 NA Approved ATX2 uc001tsj.3 Q99700 OTTHUMG00000133475 ENST00000542287.2:c.2508G>A chr12.hg19:g.111907925C>T NA A6NLD4|Q6ZQZ7|Q99493 hg19 0.02 27.862432 ATGxGTC COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 C 12.50 1.956111 0.34471 . . ENSG00000204842 ENST00000550889 . . . 5.47 -2.3 0.06785 . . . . . T 0.53753 0.1816 . . . 0.80722 D 1 . . . . . . T 0.62774 -0.6783 5 0.87932 D 0 -4.9476 9.1835 0.37156 0.098:0.3339:0.0:0.5681 . . . . H 4 . ENSP00000449162:R4H R - 2 0 ATXN2 110392308 0.043000 0.20138 0.983000 0.44433 0.989000 0.77384 -0.719000 0.04974 -0.401000 0.07644 -0.229000 0.12294 CGC NOVEL ATXN2-011 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404980.1 4 34.399842 KEEP 0 1 33 126 4389 CC 1 1 0 - 19 60 690 0 1 40.414535 663 60 23930 1009 ENST00000542287.2 0.027859 1 ACAD10 80724 __UNKNOWN__ __UNKNOWN__ 12 112194727 112194727 __UNKNOWN__ 3'UTR SNP C C T rs739580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:112194727C>T ENST00000313698.4 + 0 3785 ACAD10_ENST00000455480.2_3'UTR|RP11-162P23.2_ENST00000546840.2_Intron NM_025247.5 NP_079523.3 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 NA NA mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CCACGGCGGGCGGTGGCCTAG 0.602 NA C||| 983 0.196286 0.1808 0.1138 5008 , , NA 15750 0.5784 NA 0.003 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY323912 CCDS31903.1, CCDS44973.1 12q24.12 2012-10-02 2010-04-30 ENSG00000111271 ENSG00000111271 80724 21597 protein-coding gene gene with protein product 611181 acyl-Coenzyme A dehydrogenase family, member 10 NA 15560374 Standard NM_025247 NM_025247 NA Approved MGC5601 uc009zvx.3 Q6JQN1 OTTHUMG00000169602 ENST00000313698.4:c.*450C>T chr12.hg19:g.112194727C>T NA G3XAJ0|Q8N828|Q8NAP2|Q96BX5 hg19 CCDS31903.1 0.02 16.577811 GGGxGGT COVERED NOVEL ACAD10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000368307.1 1 31.528252 KEEP 0 0 0 105 3345 CC 1 1 0 + 14 60 445 0 0 24.960351 389 60 12111 620 ENST00000313698.4 0.034739 1 NAA25 80018 __UNKNOWN__ __UNKNOWN__ 12 112464631 112464631 __UNKNOWN__ 3'UTR SNP C C T rs10431388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:112464631C>T ENST00000261745.4 - 0 5871 NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit NA NA cytoplasm (GO:0005737) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 GTTTCAATAACAAGCCTGTAG 0.269 NA c||| 833 0.166334 0.0545 0.1412 5008 , , NA 16227 0.5754 NA 0.002 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB054990 CCDS9159.1 12q24.13 2013-10-11 2010-01-14 2010-01-14 ENSG00000111300 80018 N(alpha)-acetyltransferase subunits 25783 protein-coding gene gene with protein product 612755 chromosome 12 open reading frame 30 C12orf30 NA 19660095 Standard NM_024953 NM_024953 NA Approved FLJ13089 uc001ttm.3 Q14CX7 OTTHUMG00000169638 ENST00000261745.4:c.*2704G>A chr12.hg19:g.112464631C>T NA A0JLU7|Q6MZH1|Q7Z4N6|Q9H911 hg19 CCDS9159.1 0.02 8.318857 TAAxAAG COVERED NOVEL NAA25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405205.1 2 14.446144 KEEP 0 0 0 48 1654 CC 1 1 0 - 9 60 328 0 0 20.98426 200 60 7440 317 ENST00000261745.4 0.043062 1 NAA25 80018 __UNKNOWN__ __UNKNOWN__ 12 112509677 112509677 __UNKNOWN__ Intron SNP A A C rs11066147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:112509677A>C ENST00000261745.4 - 10 1285 NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit NA NA cytoplasm (GO:0005737) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CTCCAGGCTTACCAGATATCA 0.433 NA C||| 923 0.184305 0.1195 0.1484 5008 , , NA 15205 0.5744 NA 0.002 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 C 473,3933 778.4+/-414.3 27,419,1757 98 81 87 4.3 0 12 dbSNP_120 87 40,8560 817.1+/-406.9 0,40,4260 no intron NAA25 NM_024953.3 27,459,6017 CC,CA,AA 0.4651,10.7354,3.9443 112509677 513,12493 2203 4300 6503 SO:0001627 intron_variant AB054990 CCDS9159.1 12q24.13 2013-10-11 2010-01-14 2010-01-14 ENSG00000111300 80018 N(alpha)-acetyltransferase subunits 25783 protein-coding gene gene with protein product 612755 chromosome 12 open reading frame 30 C12orf30 NA 19660095 Standard NM_024953 NM_024953 NA Approved FLJ13089 uc001ttm.3 Q14CX7 OTTHUMG00000169638 ENST00000261745.4:c.1036+21T>G chr12.hg19:g.112509677A>C NA A0JLU7|Q6MZH1|Q7Z4N6|Q9H911 hg19 CCDS9159.1 0.02 8.935541 CTTxCCA COVERED NOVEL NAA25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405205.1 1 11.398014 KEEP 0 0 0 38 1152 AA 1 1 0 - 11 60 408 0 0 26.897536 218 60 7670 319 ENST00000261745.4 0.048035 1 RPH3A 22895 __UNKNOWN__ __UNKNOWN__ 12 113269736 113269736 __UNKNOWN__ Intron SNP A A G rs11829717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113269736A>G ENST00000389385.4 + 3 568 RPH3A_ENST00000551052.1_Intron|RPH3A_ENST00000543106.2_Intron|RPH3A_ENST00000415485.3_Intron|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000420983.2_Intron NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A NA NA intracellular protein transport (GO:0006886) cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215) breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) tacttggtgcatgttgtactt 0.328 NA G||| 1809 0.361222 0.6899 0.2723 5008 , , NA 20518 0.1131 NA 0.3539 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023202 CCDS31904.1, CCDS44979.1 12q24.13 2014-07-02 2014-07-02 ENSG00000089169 ENSG00000089169 22895 Synaptotagmins 17056 protein-coding gene gene with protein product 612159 rabphilin 3A homolog (mouse) NA 10231032, 7822236 Standard NM_014954 NM_014954 NA Approved KIAA0985, rabphilin, exophilin-1 uc001ttz.3 Q9Y2J0 OTTHUMG00000169713 ENST00000389385.4:c.71+3542A>G chr12.hg19:g.113269736A>G NA B7Z3C3|Q96AE0 hg19 CCDS44979.1 0.02 12.852447 TGCxTGT COVERED NOVEL RPH3A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000405561.1 1 4.812753 KEEP 0 0 0 16 467 AA 0.997832 0.997832 0 + 10 60 368 1 0 22.468847 295 60 10813 336 ENST00000389385.4 0.032787 1 OAS3 4940 __UNKNOWN__ __UNKNOWN__ 12 113386624 113386624 __UNKNOWN__ Intron SNP C C T rs7965570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113386624C>T ENST00000228928.7 + 6 1208 RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GATGCAGAAACCACTGCGCCT 0.597 NA C||| 977 0.195088 0.1082 0.3401 5008 , , NA 18890 0.1577 NA 0.2525 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 C 499,3513 38,423,1545 22 23 23 2.2 0 12 dbSNP_116 23 2006,6180 264,1478,2351 no intron OAS3 NM_006187.2 302,1901,3896 TT,TC,CC 24.5053,12.4377,20.5362 113386624 2505,9693 2006 4093 6099 SO:0001627 intron_variant AF063613 CCDS44981.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111331 4940 8088 protein-coding gene gene with protein product 603351 2'-5'-oligoadenylate synthetase 3 (100 kD) NA 9790745 Standard NM_006187 NA Approved uc001tug.3 Q9Y6K5 OTTHUMG00000169795 ENST00000228928.7:c.1030-42C>T chr12.hg19:g.113386624C>T NA Q2HJ14|Q9H3P5 hg19 CCDS44981.1 0.02 3.713653 AAAxCAC COVERED NOVEL OAS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405920.1 0 4.213615 KEEP 0 0 0 14 485 CC 0.995343 0.995343 0 + 5 60 178 0 0 10.777607 138 60 4970 168 ENST00000228928.7 0.034965 1 OAS3 4940 __UNKNOWN__ __UNKNOWN__ 12 113386779 113386779 __UNKNOWN__ Missense_Mutation SNP C C G rs2285933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113386779C>G ENST00000228928.7 + 6 1322 c.1143C>G c.(1141-1143)agC>agG p.S381R RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 381 Linker. NA S -> R (in dbSNP:rs2285933). {ECO:0000269|PubMed:15489334}. cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 GAGCAGGGAGCAAACCTCCCT 0.607 NA C||| 1405 0.280551 0.4092 0.379 5008 , , NA 19978 0.1577 NA 0.2565 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 C ARG/SER 1450,2514 249,952,781 37 41 40 1143 0 0 12 dbSNP_100 40 2178,6156 291,1596,2280 yes missense OAS3 NM_006187.2 110 540,2548,3061 GG,GC,CC 26.1339,36.5792,29.5007 benign 381/1088 113386779 3628,8670 1982 4167 6149 SO:0001583 missense AF063613 CCDS44981.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111331 4940 8088 protein-coding gene gene with protein product 603351 2'-5'-oligoadenylate synthetase 3 (100 kD) NA 9790745 Standard NM_006187 NA Approved uc001tug.3 Q9Y6K5 OTTHUMG00000169795 ENST00000228928.7:c.1143C>G chr12.hg19:g.113386779C>G ENSP00000228928:p.Ser381Arg NA Q2HJ14|Q9H3P5 hg19 CCDS44981.1 0.02 15.65911 GAGxAAA COVERED 621 0.28434065934065933 194 0.3943089430894309 117 0.32320441988950277 105 0.18356643356643357 205 0.2704485488126649 C 2.291 -0.362396 0.05103 0.365792 0.261339 ENSG00000111331 ENST00000228928;ENST00000323881 T 0.06687 3.27 3.0 0.0313 0.14170 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.26002 0.139 B 0.12156 0.007 T 0.47623 -0.9103 8 0.51188 T 0.08 . 3.3881 0.07278 0.0:0.52:0.2178:0.2622 rs2285933;rs2285933 381 Q9Y6K5 OAS3_HUMAN R 381 ENSP00000228928:S381R ENSP00000228928:S381R S + 3 2 OAS3 111871162 0.000000 0.05858 0.001000 0.08648 0.010000 0.07245 -0.993000 0.03720 -0.002000 0.14469 -0.145000 0.13849 AGC NOVEL OAS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405920.1 0 12.777099 KEEP 0 1 33 54 1928 CC 1 1 0 + 19 60 634 0 0 39.878682 375 60 14121 546 ENST00000228928.7 0.048223 1 OAS3 4940 __UNKNOWN__ __UNKNOWN__ 12 113408874 113408874 __UNKNOWN__ 3'UTR SNP A A G rs739903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113408874A>G ENST00000228928.7 + 0 4539 RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 AACAGTGTCCACACTagtcaa 0.507 NA A||| 1116 0.222843 0.2073 0.3516 5008 , , NA 22141 0.1558 NA 0.2565 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF063613 CCDS44981.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111331 4940 8088 protein-coding gene gene with protein product 603351 2'-5'-oligoadenylate synthetase 3 (100 kD) NA 9790745 Standard NM_006187 NA Approved uc001tug.3 Q9Y6K5 OTTHUMG00000169795 ENST00000228928.7:c.*1096A>G chr12.hg19:g.113408874A>G NA Q2HJ14|Q9H3P5 hg19 CCDS44981.1 0.02 6.475485 TCCxCAC COVERED NOVEL OAS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405920.1 1 10.528664 KEEP 0 0 0 35 1052 AA 0.999999 0.999999 0 + 9 60 332 0 0 21.958805 172 60 6069 245 ENST00000228928.7 0.049724 1 OAS3 4940 __UNKNOWN__ __UNKNOWN__ 12 113409981 113409981 __UNKNOWN__ 3'UTR SNP C C T rs7138267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113409981C>T ENST00000228928.7 + 0 5646 RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGGGCCTCCCCGCAAAATGGC 0.547 NA c||| 1515 0.302516 0.4879 0.3847 5008 , , NA 20842 0.1558 NA 0.2594 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF063613 CCDS44981.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111331 4940 8088 protein-coding gene gene with protein product 603351 2'-5'-oligoadenylate synthetase 3 (100 kD) NA 9790745 Standard NM_006187 NA Approved uc001tug.3 Q9Y6K5 OTTHUMG00000169795 ENST00000228928.7:c.*2203C>T chr12.hg19:g.113409981C>T NA Q2HJ14|Q9H3P5 hg19 CCDS44981.1 0.02 7.102905 CCCxGCA COVERED NOVEL OAS3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000405920.1 2 6.620869 KEEP 0 0 0 22 731 CC 0.999879 0.999879 0 + 9 60 341 0 0 23.480715 146 60 5040 209 ENST00000228928.7 0.058065 1 OAS2 4939 __UNKNOWN__ __UNKNOWN__ 12 113424893 113424893 __UNKNOWN__ Silent SNP C C G rs2072138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113424893C>G ENST00000342315.4 + 2 442 c.228C>G c.(226-228)acC>acG p.T76T OAS2_ENST00000449768.2_Silent_p.T76T|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.T76T NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 76 OAS domain 1. NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCGATGGTACCCTTGTCCTCT 0.463 NA C||| 1097 0.21905 0.2141 0.3401 5008 , , NA 19158 0.0863 NA 0.2753 False NA ,,, NA NA NA 2504 0.2188 NA NA NA Pancreas(199;709 2232 18410 33584 35052) NA 0 C ,, 1037,3369 379.7+/-323.4 117,803,1283 111 104 106 228,228,228 1.2 0 12 dbSNP_96 106 2475,6125 406.4+/-348.8 353,1769,2178 no coding-synonymous,coding-synonymous,coding-synonymous OAS2 NM_001032731.1,NM_002535.2,NM_016817.2 ,, 470,2572,3461 GG,GC,CC 28.7791,23.5361,27.0029 ,, 76/173,76/688,76/720 113424893 3512,9494 2203 4300 6503 SO:0001819 synonymous_variant M87284 CCDS31906.1, CCDS41839.1, CCDS44982.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111335 4939 8087 protein-coding gene gene with protein product 603350 2'-5'-oligoadenylate synthetase 2 (69-71 kD) NA 9790745 Standard NM_002535 NA Approved uc001tuj.3 P29728 OTTHUMG00000169802 ENST00000342315.4:c.228C>G chr12.hg19:g.113424893C>G NA A8K9T1|Q6PJ33|Q86XX8 hg19 CCDS31906.1 0.02 6.063826 TACxCTT COVERED NOVEL OAS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000405937.1 1 12.640881 KEEP 0 0 0 42 1474 CC 1 1 0 + 11 60 382 0 0 25.112575 183 60 6558 307 ENST00000342315.4 0.056701 1 OAS2 4939 __UNKNOWN__ __UNKNOWN__ 12 113440921 113440921 __UNKNOWN__ Intron SNP T T C rs2072137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113440921T>C ENST00000342315.4 + 6 1393 RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Intron NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa NA NA cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) 2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270) NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AGCACTGGCCTTTCTCATGTC 0.453 NA T||| 1620 0.323482 0.0643 0.4784 5008 , , NA 21629 0.3819 NA 0.4245 False NA ,,, NA NA NA 2504 0.3998 NA NA NA Pancreas(199;709 2232 18410 33584 35052) NA 0 T , 517,3889 29,459,1715 149 146 147 , -2.8 0 12 dbSNP_96 147 3514,5086 729,2056,1515 no intron,intron OAS2 NM_002535.2,NM_016817.2 , 758,2515,3230 CC,CT,TT 40.8605,11.734,30.9934 , , 113440921 4031,8975 2203 4300 6503 SO:0001627 intron_variant M87284 CCDS31906.1, CCDS41839.1, CCDS44982.1 12q24.2 2008-05-02 2002-08-29 ENSG00000111335 4939 8087 protein-coding gene gene with protein product 603350 2'-5'-oligoadenylate synthetase 2 (69-71 kD) NA 9790745 Standard NM_002535 NA Approved uc001tuj.3 P29728 OTTHUMG00000169802 ENST00000342315.4:c.1179+14T>C chr12.hg19:g.113440921T>C NA A8K9T1|Q6PJ33|Q86XX8 hg19 CCDS31906.1 0.02 9.696827 GCCxTTC COVERED NOVEL OAS2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000405937.1 1 13.221233 KEEP 0 0 0 44 1422 TT 1 1 0 + 13 60 488 0 0 33.207449 221 60 8033 337 ENST00000342315.4 0.055556 1 RASAL1 8437 __UNKNOWN__ __UNKNOWN__ 12 113565889 113565889 __UNKNOWN__ Silent SNP G G A rs2305908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113565889G>A ENST00000546530.1 - 4 502 c.217C>T c.(217-219)Ctg>Ttg p.L73L RASAL1_ENST00000548055.1_Silent_p.L73L|RASAL1_ENST00000261729.5_Silent_p.L73L|RASAL1_ENST00000446861.3_Silent_p.L73L|RASAL1_ENST00000418411.2_5'UTR NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 73 C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}. NA intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TCCTCATCCAGCACGTAGAAG 0.607 NA G||| 174 0.0347444 0.0023 0.0014 5008 , , NA 17359 0.1587 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 G ,, 15,4391 22.3+/-47.3 0,15,2188 257 251 253 217,217,217 4.9 1 12 dbSNP_100 253 3,8597 3.0+/-9.4 0,3,4297 no coding-synonymous,coding-synonymous,coding-synonymous RASAL1 NM_001193520.1,NM_001193521.1,NM_004658.2 ,, 0,18,6485 AA,AG,GG 0.0349,0.3404,0.1384 ,, 73/807,73/777,73/805 113565889 18,12988 2203 4300 6503 SO:0001819 synonymous_variant AF086713 CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1 12q23-q24 2013-01-10 ENSG00000111344 ENSG00000111344 8437 Pleckstrin homology (PH) domain containing 9873 protein-coding gene gene with protein product 604118 NA 9751798 Standard NM_004658 NM_001193520 NA Approved RASAL uc001tul.3 O95294 OTTHUMG00000169705 ENST00000546530.1:c.217C>T chr12.hg19:g.113565889G>A NA B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7 hg19 CCDS55889.1 0.02 6.291011 CCAxCAC COVERED NOVEL RASAL1-008 KNOWN alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000405528.1 0 7.223508 KEEP 0 0 0 24 853 GG 0.999909 0.999909 0 - 9 60 309 0 0 19.999541 159 60 6110 231 ENST00000546530.1 0.053571 1 TPCN1 53373 __UNKNOWN__ __UNKNOWN__ 12 113683229 113683229 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:113683229C>T ENST00000392569.4 + 1 101 TPCN1_ENST00000541517.1_Intron|TPCN1_ENST00000550785.1_Intron|TPCN1_ENST00000335509.6_Intron Q9ULQ1 TPC1_HUMAN two pore segment channel 1 NA NA calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ggtgaaaccccgtctctacta 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032995 CCDS31908.1, CCDS44985.1 12q24.21 2011-07-05 ENSG00000186815 ENSG00000186815 53373 Voltage-gated ion channels / Two-pore channels 18182 protein-coding gene gene with protein product 609666 NA 10574461, 10753632, 16382101 Standard NM_017901 XM_005253905 NA Approved KIAA1169, FLJ20612, TPC1 uc001tux.3 Q9ULQ1 OTTHUMG00000169625 ENST00000392569.4:c.-93+1063C>T chr12.hg19:g.113683229C>T NA A7E258|Q86XS9|Q8NC20 hg19 0.02 -0.061404 CCCxGTC UNCOVERED NOVEL TPCN1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000405159.1 6 3.31048 KEEP 5 0 0 11 366 CC 0.99257 0.043461 0 + 2 47 78 0 0 6.935688 5 31 164 27 ENST00000392569.4 0.285714 0.043787 TBX3 6926 __UNKNOWN__ __UNKNOWN__ 12 115109075 115109075 __UNKNOWN__ 3'UTR SNP G G C rs3741697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:115109075G>C ENST00000257566.3 - 0 3192 TBX3_ENST00000349155.2_3'UTR NM_016569.3 NP_057653.3 O15119 TBX3_HUMAN T-box 3 NA NA anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412) nucleus (GO:0005634) RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AAAAGACACAGATTTTCTTAA 0.373 NA G||| 108 0.0215655 0.0 0.0029 5008 , , NA 15763 0.0278 NA 0.0109 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025258 CCDS9175.1, CCDS9176.1 12q24.21 2013-09-05 2008-07-31 ENSG00000135111 ENSG00000135111 6926 T-boxes 11602 protein-coding gene gene with protein product 601621 ulnar mammary syndrome UMS NA 8988164 Standard NM_016569, NM_005996 NM_005996 NA Approved TBX3-ISO, XHL uc001tvt.1 O15119 OTTHUMG00000169586 ENST00000257566.3:c.*571C>G chr12.hg19:g.115109075G>C NA Q8TB20|Q9UKF8 hg19 CCDS9176.1 0.02 6.974509 ACAxATT COVERED NOVEL TBX3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000404947.2 2 34.009621 KEEP 0 0 0 113 3986 GG 1 1 0 - 6 60 232 0 0 14.627103 175 60 6713 356 ENST00000257566.3 0.033149 1 RNFT2 84900 __UNKNOWN__ __UNKNOWN__ 12 117289613 117289613 __UNKNOWN__ Missense_Mutation SNP G G C rs903775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:117289613G>C ENST00000319176.7 + 7 1043 c.830G>C c.(829-831)gGt>gCt p.G277A RNFT2_ENST00000551251.1_Intron|RNFT2_ENST00000392549.2_Intron|RNFT2_ENST00000407967.3_Intron Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 0 NA integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) agaaagaaAGGTCAGCTTTGG 0.468 NA G||| 2250 0.449281 0.0378 0.7723 5008 , , NA 19334 0.4732 NA 0.7286 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK027533 CCDS9180.2, CCDS44987.1 12q24.22 2013-01-09 2008-02-26 2008-02-26 ENSG00000135119 ENSG00000135119 84900 RING-type (C3HC4) zinc fingers 25905 protein-coding gene gene with protein product transmembrane protein 118 TMEM118 NA 12477932 Standard NM_032814 NM_032814 NA Approved FLJ14627 uc009zwn.3 Q96EX2 OTTHUMG00000150882 ENST00000319176.7:c.830G>C chr12.hg19:g.117289613G>C ENSP00000321405:p.Gly277Ala NA E9PAM7|Q96SU5 hg19 0.02 6.945331 AAGxTCA COVERED 1155 0.5288461538461539 32 0.06504065040650407 282 0.7790055248618785 285 0.4982517482517482 556 0.7335092348284961 G 9.990 1.230492 0.22542 . . ENSG00000135119 ENST00000319176 T 0.65916 -0.18 3.55 0.676 0.17958 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.29397 -1.0013 5 0.62326 D 0.03 . 3.693 0.08353 0.2348:0.2071:0.5581:0.0 rs903775;rs17850810;rs903775 . . . A 277 ENSP00000321405:G277A ENSP00000321405:G277A G + 2 0 RNFT2 115773996 0.000000 0.05858 0.000000 0.03702 0.077000 0.17291 -0.085000 0.11250 0.141000 0.18875 -0.476000 0.04901 GGT NOVEL RNFT2-004 PUTATIVE non_canonical_TEC|basic protein_coding NA protein_coding OTTHUMT00000403554.1 5 3.949106 KEEP 0 1 37 26 909 GG 0.999988 0.999988 0 + 7 60 269 0 0 17.726723 155 70 5511 236 ENST00000319176.7 0.04321 1 FBXW8 26259 __UNKNOWN__ __UNKNOWN__ 12 117448204 117448204 __UNKNOWN__ Missense_Mutation SNP A A G rs375530922 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:117448204A>G ENST00000309909.5 + 8 1398 c.1316A>G c.(1315-1317)aAc>aGc p.N439S FBXW8_ENST00000455858.2_Missense_Mutation_p.N373S Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 439 NA cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712) Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005) endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) ACGTGTGTCAACCTCAGCGAC 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 A SER/ASN,SER/ASN 2,4404 6.2+/-15.9 0,2,2201 200 152 169 1118,1316 5.7 1 12 169 0,8600 0,0,4300 no missense,missense FBXW8 NM_012174.1,NM_153348.2 46,46 0,2,6501 GG,GA,AA 0.0,0.0454,0.0154 possibly-damaging,possibly-damaging 373/533,439/599 117448204 2,13004 2203 4300 6503 SO:0001583 missense AF176707 CCDS9182.1, CCDS44988.1 12q24.23 2013-01-09 2007-02-08 2003-06-13 26259 F-boxes / WD-40 domains, WD repeat domain containing 13597 protein-coding gene gene with protein product 609073 F-box only protein 29, F-box and WD-40 domain protein 8 FBXO29 NA 10531035, 10531037 Standard NM_012174 NM_012174 NA Approved FBX29, FBW6, FBW8 uc001twg.1 Q8N3Y1 OTTHUMG00000169329 ENST00000309909.5:c.1316A>G chr12.hg19:g.117448204A>G ENSP00000310686:p.Asn439Ser NA Q9UK95 hg19 CCDS9182.1 0.02 10.930548 TCAxCCT COVERED . . . . . . . . . . A 17.23 3.335705 0.60853 4.54E-4 0.0 ENSG00000174989 ENST00000309909;ENST00000455858;ENST00000505227 T;T 0.04194 3.68;3.68 5.7 5.7 0.88788 WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1); 0.148518 0.64402 D 0.000016 T 0.07863 0.0197 L 0.46885 1.475 0.44711 D 0.997704 P;P 0.47106 0.86;0.89 P;P 0.45856 0.461;0.495 T 0.45906 -0.9229 10 0.20519 T 0.43 -34.2394 14.5476 0.68044 1.0:0.0:0.0:0.0 . 439;373 Q8N3Y1;Q8N3Y1-2 FBXW8_HUMAN;. S 439;373;373 ENSP00000310686:N439S;ENSP00000389144:N373S ENSP00000310686:N439S N + 2 0 FBXW8 115932587 1.000000 0.71417 1.000000 0.80357 0.662000 0.39071 7.369000 0.79578 2.172000 0.68678 0.533000 0.62120 AAC NOVEL FBXW8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403561.1 0 22.865609 KEEP 0 0 0 76 2313 AA 1 1 0 + 11 60 343 0 0 20.529841 241 60 8528 423 ENST00000309909.5 0.043651 1 NOS1 4842 __UNKNOWN__ __UNKNOWN__ 12 117665544 117665544 __UNKNOWN__ Intron SNP A A C rs904658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:117665544A>C ENST00000338101.4 - 23 3512 NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron Q8WY41 NANO1_HUMAN nitric oxide synthase 1 (neuronal) NA NA cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148) cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) AAATAAAAGTAACAGTTGGca 0.547 NA A||| 2545 0.508187 0.6498 0.5865 5008 , , NA 19568 0.4792 NA 0.341 False NA ,,, NA NA NA 2504 0.4632 NA NA NA Esophageal Squamous(162;1748 2599 51982 52956) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41842.1, CCDS55890.1 12q24.22 2013-09-19 ENSG00000089250 ENSG00000089250 4842 1.14.13.39 7872 protein-coding gene gene with protein product 163731 NOS NA 1385308, 7682706 Standard NM_001204213 NA Approved nNOS uc001twn.2 P29475 OTTHUMG00000137376 ENST00000338101.4:c.3508-98T>G chr12.hg19:g.117665544A>C NA hg19 CCDS55890.1 0.02 4.329436 AGTxACA COVERED NOVEL NOS1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000268053.1 1 3.008241 KEEP 0 0 0 10 289 AA 0.992708 0.992708 0 - 7 60 270 1 0 18.250531 134 60 4704 155 ENST00000338101.4 0.049645 1 NOS1 4842 __UNKNOWN__ __UNKNOWN__ 12 117685138 117685138 __UNKNOWN__ Intron SNP T T C rs2291908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:117685138T>C ENST00000338101.4 - 18 2930 NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron Q8WY41 NANO1_HUMAN nitric oxide synthase 1 (neuronal) NA NA cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148) cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) TGTAGGTCCATGAGATCCAGA 0.507 NA T||| 1768 0.353035 0.1982 0.5259 5008 , , NA 18091 0.5109 NA 0.3161 False NA ,,, NA NA NA 2504 0.3149 NA NA NA Esophageal Squamous(162;1748 2599 51982 52956) NA 0 T ,,, 680,3210 64,552,1329 95 95 95 ,,, 2.2 0 12 dbSNP_100 95 2511,5779 391,1729,2025 no intron,intron,intron,intron NOS1 NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1 ,,, 455,2281,3354 CC,CT,TT 30.2895,17.4807,26.1987 ,,, ,,, 117685138 3191,8989 1945 4145 6090 SO:0001627 intron_variant CCDS41842.1, CCDS55890.1 12q24.22 2013-09-19 ENSG00000089250 ENSG00000089250 4842 1.14.13.39 7872 protein-coding gene gene with protein product 163731 NOS NA 1385308, 7682706 Standard NM_001204213 NA Approved nNOS uc001twn.2 P29475 OTTHUMG00000137376 ENST00000338101.4:c.2925+14A>G chr12.hg19:g.117685138T>C NA hg19 CCDS55890.1 0.02 4.476485 CCAxGAG COVERED NOVEL NOS1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000268053.1 1 6.918463 KEEP 0 0 0 23 686 TT 0.999892 0.999892 0 - 6 60 216 0 0 13.564727 142 60 5276 209 ENST00000338101.4 0.040541 1 NOS1 4842 __UNKNOWN__ __UNKNOWN__ 12 117693815 117693815 __UNKNOWN__ Silent SNP G G T rs78210735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:117693815G>T ENST00000338101.4 - 16 2563 c.2559C>A c.(2557-2559)ccC>ccA p.P853P NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron Q8WY41 NANO1_HUMAN nitric oxide synthase 1 (neuronal) 0 NA cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148) cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) GCCCTTTACGGGGAAAGAAAC 0.597 NA G||| 12 0.00239617 0.0 0.0 5008 , , NA 18542 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Esophageal Squamous(162;1748 2599 51982 52956) NA 0 153 139 143 NA NA 12 NA 117693815 876 1991 2867 SO:0001819 synonymous_variant CCDS41842.1, CCDS55890.1 12q24.22 2013-09-19 ENSG00000089250 ENSG00000089250 4842 1.14.13.39 7872 protein-coding gene gene with protein product 163731 NOS NA 1385308, 7682706 Standard NM_001204213 NA Approved nNOS uc001twn.2 P29475 OTTHUMG00000137376 ENST00000338101.4:c.2559C>A chr12.hg19:g.117693815G>T NA hg19 CCDS55890.1 0.02 3.997227 ACGxGGA COVERED NOVEL NOS1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000268053.1 1 4.815565 KEEP 0 0 0 16 562 GG 0.997832 0.997831 0 - 5 60 181 0 0 11.40829 118 60 4380 171 ENST00000338101.4 0.04065 0.999999 NOS1 4842 __UNKNOWN__ __UNKNOWN__ 12 117693817 117693817 __UNKNOWN__ Missense_Mutation SNP G G A rs11068428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:117693817G>A ENST00000338101.4 - 16 2561 c.2557C>T c.(2557-2559)Ccc>Tcc p.P853S NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron Q8WY41 NANO1_HUMAN nitric oxide synthase 1 (neuronal) 0 NA cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148) cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) CCTTTACGGGGAAAGAAACGC 0.592 NA G||| 1740 0.347444 0.2012 0.5231 5008 , , NA 18489 0.502 NA 0.3161 False NA ,,, NA NA NA 2504 0.2935 NA NA NA Esophageal Squamous(162;1748 2599 51982 52956) NA 0 G ,,,SER/PRO 332,1420 40,252,584 152 137 142 ,,,2557 5.1 1 12 dbSNP_120 142 1251,2731 204,843,944 yes intron,intron,intron,missense NOS1 NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1 ,,,74 244,1095,1528 AA,AG,GG 31.4164,18.9498,27.6073 ,,, ,,,853/1469 117693817 1583,4151 876 1991 2867 SO:0001583 missense CCDS41842.1, CCDS55890.1 12q24.22 2013-09-19 ENSG00000089250 ENSG00000089250 4842 1.14.13.39 7872 protein-coding gene gene with protein product 163731 NOS NA 1385308, 7682706 Standard NM_001204213 NA Approved nNOS uc001twn.2 P29475 OTTHUMG00000137376 ENST00000338101.4:c.2557C>T chr12.hg19:g.117693817G>A ENSP00000337459:p.Pro853Ser NA hg19 CCDS55890.1 0.02 3.997122 GGGxAAA COVERED 790 0.3617216117216117 95 0.19308943089430894 181 0.5 265 0.4632867132867133 249 0.32849604221635886 G 10.24 1.296247 0.23650 0.189498 0.314164 ENSG00000089250 ENST00000338101;ENST00000544320 T 0.01265 5.08 5.93 5.05 0.67936 . . . . . T 0.00012 0.0000 N 0.08118 0 0.09310 P 1.0 . . . . . . T 0.05750 -1.0866 6 0.27082 T 0.32 -22.5766 11.0829 0.48070 0.0844:0.0:0.9156:0.0 rs11068428;rs11068428 . . . S 853;19 ENSP00000337459:P853S ENSP00000337459:P853S P - 1 0 NOS1 116178200 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.955000 0.49121 1.529000 0.49120 0.655000 0.94253 CCC NOVEL NOS1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000268053.1 1 4.508116 KEEP 0 0 0 15 496 GG 0.99649 0.99649 0 - 5 60 180 0 0 11.308265 118 60 4481 168 ENST00000338101.4 0.04065 0.999999 KSR2 283455 __UNKNOWN__ __UNKNOWN__ 12 118112070 118112070 __UNKNOWN__ Intron SNP C C A rs185686631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:118112070C>A ENST00000339824.5 - 5 1714 KSR2_ENST00000425217.1_Intron|KSR2_ENST00000545002.1_Intron|KSR2_ENST00000302438.5_Intron Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 NA NA intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737)|membrane (GO:0016020) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ctggtccaagccaccaccttc 0.433 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 19166 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 23 18 20 NA NA 12 NA 118112070 876 1990 2866 SO:0001627 intron_variant AY345972 CCDS61250.1 12q24.22-q24.23 2014-08-12 ENSG00000171435 ENSG00000171435 283455 18610 protein-coding gene gene with protein product 610737 NA 12471243 Standard NM_173598 NM_173598 NA Approved FLJ25965 uc001two.2 Q6VAB6 OTTHUMG00000169020 ENST00000339824.5:c.987-6607G>T chr12.hg19:g.118112070C>A NA A0PJT2|Q3B828|Q8N775 hg19 0.02 2.071548 AAGxCAC COVERED NOVEL KSR2-001 KNOWN non_canonical_conserved|not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000401987.2 0 2.94764 KEEP 0 0 0 10 328 CC 0.992708 0.992603 0 - 4 60 138 0 0 8.552398 89 60 3363 133 ENST00000339824.5 0.043011 0.999895 VSIG10 54621 __UNKNOWN__ __UNKNOWN__ 12 118502467 118502467 __UNKNOWN__ 3'UTR SNP A A G rs8239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:118502467A>G ENST00000359236.5 - 0 3876 NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 NA NA integral component of membrane (GO:0016021) endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 TTGCAGCAAAAGACAAAAAGC 0.448 NA A||| 1465 0.292532 0.2927 0.255 5008 , , NA 19941 0.5188 NA 0.165 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS44992.1 12q24.23 2013-01-29 ENSG00000176834 ENSG00000176834 54621 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 26078 protein-coding gene gene with protein product NA 12477932 Standard NM_019086 NM_019086 NA Approved uc001tws.3 Q8N0Z9 ENST00000359236.5:c.*1977T>C chr12.hg19:g.118502467A>G NA Q9NWQ7 hg19 CCDS44992.1 0.02 9.003519 AAAxGAC COVERED NOVEL VSIG10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401273.2 0 14.743517 KEEP 0 0 0 49 1555 AA 1 1 0 - 8 60 294 0 0 18.267906 214 60 7796 320 ENST00000359236.5 0.036036 1 VSIG10 54621 __UNKNOWN__ __UNKNOWN__ 12 118511767 118511767 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:118511767T>C ENST00000359236.5 - 5 1232 c.956A>G c.(955-957)aAg>aGg p.K319R NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 319 Ig-like C2-type 4. NA integral component of membrane (GO:0016021) endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 GAAGCAAGTCTTCATGGGCTC 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 51 51 51 NA NA 12 NA 118511767 1920 4128 6048 SO:0001583 missense CCDS44992.1 12q24.23 2013-01-29 ENSG00000176834 ENSG00000176834 54621 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 26078 protein-coding gene gene with protein product NA 12477932 Standard NM_019086 NM_019086 NA Approved uc001tws.3 Q8N0Z9 ENST00000359236.5:c.956A>G chr12.hg19:g.118511767T>C ENSP00000352172:p.Lys319Arg NA Q9NWQ7 hg19 CCDS44992.1 0.02 7.360186 GTCxTCA COVERED . . . . . . . . . . T 3.898 -0.022670 0.07634 . . ENSG00000176834 ENST00000359236 T 0.27104 1.69 5.65 0.397 0.16314 Immunoglobulin-like (1); 0.285604 0.25264 N 0.031936 T 0.12178 0.0296 N 0.17764 0.52 0.23899 N 0.996521 B 0.16166 0.016 B 0.19148 0.024 T 0.26710 -1.0095 10 0.19147 T 0.46 -23.1288 5.3192 0.15872 0.1263:0.3345:0.0:0.5392 . 319 Q8N0Z9 VSI10_HUMAN R 319 ENSP00000352172:K319R ENSP00000352172:K319R K - 2 0 VSIG10 116996150 0.998000 0.40836 0.999000 0.59377 0.255000 0.26057 0.797000 0.26999 0.057000 0.16193 -0.335000 0.08231 AAG NOVEL VSIG10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401273.2 2 9.628889 KEEP 0 0 0 32 1030 TT 0.999997 0.999997 0 - 6 60 240 0 0 15.243441 188 60 6841 272 ENST00000359236.5 0.030928 1 SRRM4 84530 __UNKNOWN__ __UNKNOWN__ 12 119419632 119419632 __UNKNOWN__ 5'UTR SNP C C T rs1568924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:119419632C>T ENST00000267260.4 + 0 333 NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 NA NA cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605) nucleus (GO:0005634) mRNA binding (GO:0003729) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 CGTTTGGAATCCACGTTTCAG 0.642 NA C||| 819 0.163538 0.0219 0.2392 5008 , , NA 12767 0.1736 NA 0.2247 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB058756 CCDS44994.1 12q24.23 2009-09-22 2009-09-21 2009-09-21 ENSG00000139767 ENSG00000139767 84530 29389 protein-coding gene gene with protein product neural-specific SR-related protein of 100 kDa 613103 KIAA1853 KIAA1853 NA 19737518 Standard NM_194286 NM_194286 NA Approved nSR100 uc001txa.2 A7MD48 OTTHUMG00000168928 ENST00000267260.4:c.-56C>T chr12.hg19:g.119419632C>T NA A8K5P6|B2RZH7|Q7Z5F0|Q96JH4 hg19 CCDS44994.1 0.02 3.754183 AATxCAC COVERED NOVEL SRRM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401640.2 0 3.608781 KEEP 0 0 0 12 398 CC 0.993634 0.993633 0 + 6 60 208 0 0 13.151754 122 60 4406 146 ENST00000267260.4 0.046875 1 SRRM4 84530 __UNKNOWN__ __UNKNOWN__ 12 119597147 119597147 __UNKNOWN__ 3'UTR SNP G G T rs185437577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:119597147G>T ENST00000267260.4 + 0 4768 NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 NA NA cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605) nucleus (GO:0005634) mRNA binding (GO:0003729) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 ttaggtgggggttggagtcga 0.498 NA G||| 15 0.00299521 0.0 0.0 5008 , , NA 20145 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058756 CCDS44994.1 12q24.23 2009-09-22 2009-09-21 2009-09-21 ENSG00000139767 ENSG00000139767 84530 29389 protein-coding gene gene with protein product neural-specific SR-related protein of 100 kDa 613103 KIAA1853 KIAA1853 NA 19737518 Standard NM_194286 NM_194286 NA Approved nSR100 uc001txa.2 A7MD48 OTTHUMG00000168928 ENST00000267260.4:c.*2544G>T chr12.hg19:g.119597147G>T NA A8K5P6|B2RZH7|Q7Z5F0|Q96JH4 hg19 CCDS44994.1 0.02 6.638848 GGGxTTG COVERED NOVEL SRRM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401640.2 1 6.621407 KEEP 0 0 0 22 764 GG 0.999879 0.999879 0 + 6 60 221 0 0 14.008891 145 60 5359 208 ENST00000267260.4 0.039735 1 CIT 11113 __UNKNOWN__ __UNKNOWN__ 12 120125628 120125628 __UNKNOWN__ 3'UTR SNP C C A rs369017284 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:120125628C>A ENST00000392521.2 - 0 6674 CIT_ENST00000261833.7_3'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron rho-interacting serine/threonine kinase NA NA cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283) actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) aggaaagaaacaaagagaaaa 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023166 CCDS9192.1, CCDS55891.1 12q24.23 2014-04-23 2014-04-23 ENSG00000122966 ENSG00000122966 11113 1985 protein-coding gene gene with protein product serine/threonine kinase 21 605629 citron (rho-interacting, serine/threonine kinase 21) NA 9792683 Standard NM_007174 NM_001206999 NA Approved KIAA0949, STK21, CRIK uc001txj.2 O14578 OTTHUMG00000134325 ENST00000392521.2:c.*409G>T chr12.hg19:g.120125628C>A NA Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7 hg19 CCDS55891.1 0.02 -0.270215 AAAxAAA COVERED NOVEL CIT-005 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401847.1 0 2.501352 KEEP 0 1 5 11 199 CC 0.993634 0.734962 0 - 8 60 107 0 0 7.095241 21 60 601 46 ENST00000392521.2 0.275862 0.739671 GCN1L1 10985 __UNKNOWN__ __UNKNOWN__ 12 120591143 120591143 __UNKNOWN__ Silent SNP A A G rs12312562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:120591143A>G ENST00000300648.6 - 33 3948 c.3936T>C c.(3934-3936)taT>taC p.Y1312Y NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1312 NA regulation of translation (GO:0006417)|translation (GO:0006412) cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCACAGCATCATAGCTGGCAT 0.557 NA G||| 1712 0.341853 0.5053 0.1441 5008 , , NA 21235 0.5546 NA 0.1551 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 G 1762,2454 393,976,739 71 78 76 3936 -12.2 0 12 dbSNP_120 76 1258,7180 118,1022,3079 no coding-synonymous GCN1L1 NM_006836.1 511,1998,3818 GG,GA,AA 14.9087,41.7932,23.866 1312/2672 120591143 3020,9634 2108 4219 6327 SO:0001819 synonymous_variant U77700 CCDS41847.1 12q24.2 2008-07-03 2001-11-28 10985 4199 protein-coding gene gene with protein product 605614 GCN1 (general control of amino-acid synthesis 1, yeast)-like 1 NA 9234705 Standard NM_006836 NA Approved KIAA0219, GCN1, GCN1L uc001txo.3 Q92616 OTTHUMG00000169338 ENST00000300648.6:c.3936T>C chr12.hg19:g.120591143A>G NA A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60 hg19 CCDS41847.1 0.02 19.766752 ATCxTAG COVERED NOVEL GCN1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403592.1 6 21.900715 KEEP 0 1 38 86 2677 AA 1 1 0 - 19 60 667 0 0 40.855177 473 60 17503 715 ENST00000300648.6 0.038618 1 CABP1 9478 __UNKNOWN__ __UNKNOWN__ 12 121093655 121093655 __UNKNOWN__ Intron SNP C C T rs55819450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121093655C>T ENST00000288616.3 + 2 598 CABP1_ENST00000351200.2_Intron|CABP1_ENST00000453000.1_Silent_p.C14C|CABP1_ENST00000316803.3_Intron NM_031205.3 NP_112482.1 Q9NZU7 CABP1_HUMAN calcium binding protein 1 NA NA negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386) cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) tgtgtgtgtgcgcatgtgCCA 0.552 NA T||| 850 0.169728 0.118 0.072 5008 , , NA 19204 0.3234 NA 0.0855 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF169148 CCDS9204.1, CCDS9205.1, CCDS31913.1 12q24.31 2013-01-10 2007-03-12 ENSG00000157782 ENSG00000157782 9478 EF-hand domain containing 1384 protein-coding gene gene with protein product calbrain, caldendrin 605563 NA 9920909, 10625670 Standard NM_001033677 NM_004276 NA Approved uc001tyu.3 Q9NZU7 OTTHUMG00000156794 ENST00000288616.3:c.46-241C>T chr12.hg19:g.121093655C>T NA O95663|Q8N6H5|Q9NZU8 hg19 CCDS9205.1 0.02 5.630081 GTGxGCA COVERED NOVEL CABP1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345824.1 3 13.509333 KEEP 0 0 0 45 1549 CC 1 1 0 + 7 60 225 0 0 12.803996 191 60 6738 287 ENST00000288616.3 0.035354 1 CABP1 9478 __UNKNOWN__ __UNKNOWN__ 12 121094087 121094087 __UNKNOWN__ Intron SNP G G T rs3809311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121094087G>T ENST00000288616.3 + 2 778 CABP1_ENST00000351200.2_Intron|CABP1_ENST00000453000.1_Intron|CABP1_ENST00000316803.3_Intron NM_031205.3 NP_112482.1 Q9NZU7 CABP1_HUMAN calcium binding protein 1 NA NA negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386) cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TACGTAAGTTGGCCCAGTGGA 0.582 NA G||| 460 0.091853 0.0635 0.0274 5008 , , NA 17621 0.2877 NA 0.007 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 G ,, 205,4201 4,197,2002 16 13 14 ,, 3.8 0.9 12 dbSNP_107 14 78,8520 0,78,4221 no intron,intron,intron CABP1 NM_001033677.1,NM_004276.3,NM_031205.2 ,, 4,275,6223 TT,TG,GG 0.9072,4.6527,2.1763 ,, ,, 121094087 283,12721 2203 4299 6502 SO:0001627 intron_variant AF169148 CCDS9204.1, CCDS9205.1, CCDS31913.1 12q24.31 2013-01-10 2007-03-12 ENSG00000157782 ENSG00000157782 9478 EF-hand domain containing 1384 protein-coding gene gene with protein product calbrain, caldendrin 605563 NA 9920909, 10625670 Standard NM_001033677 NM_004276 NA Approved uc001tyu.3 Q9NZU7 OTTHUMG00000156794 ENST00000288616.3:c.225+12G>T chr12.hg19:g.121094087G>T NA O95663|Q8N6H5|Q9NZU8 hg19 CCDS9205.1 0.02 -0.421109 GTTxGCC COVERED NOVEL CABP1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000345824.1 2 4.212798 KEEP 0 0 0 14 459 GG 0.995343 0.943985 0 + 3 60 104 0 0 6.95989 45 60 1644 62 ENST00000288616.3 0.0625 0.948402 MLEC 9761 __UNKNOWN__ __UNKNOWN__ 12 121138277 121138277 __UNKNOWN__ 3'UTR SNP G G T rs3751166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121138277G>T ENST00000535413.1 + 0 150 MLEC_ENST00000228506.3_3'UTR Q14165 MLEC_HUMAN malectin NA NA cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 GGCAGGATGGGTATGCTTTGG 0.498 NA G||| 384 0.0766773 0.0038 0.0043 5008 , , NA 18021 0.3036 NA 0.006 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC000371 CCDS9206.1 12q24.31 2013-03-06 2008-11-05 2008-11-05 ENSG00000110917 ENSG00000110917 9761 28973 protein-coding gene gene with protein product oligosaccharyltransferase complex subunit (non-catalytic) 613802 KIAA0152 KIAA0152 NA 18524852 Standard NM_014730 NM_014730 NA Approved uc001tyy.1 Q14165 OTTHUMG00000169187 ENST00000535413.1:c.*147G>T chr12.hg19:g.121138277G>T NA hg19 0.02 6.386865 TGGxTAT COVERED NOVEL MLEC-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000402854.1 2 13.240983 KEEP 0 0 0 44 1490 GG 1 1 0 + 8 60 267 0 0 16.838307 149 60 5453 238 ENST00000535413.1 0.050955 1 UNC119B 84747 __UNKNOWN__ __UNKNOWN__ 12 121160805 121160805 __UNKNOWN__ 3'UTR SNP A A G rs2239757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121160805A>G ENST00000344651.4 + 0 3766 RP11-173P15.5_ENST00000544939.1_RNA NM_001080533.1 NP_001074002.1 A6NIH7 U119B_HUMAN unc-119 homolog B (C. elegans) NA NA cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953) ciliary transition zone (GO:0035869) lipid binding (GO:0008289) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AATGGCAGTGATTGGGCAATC 0.403 NA A||| 533 0.10643 0.1104 0.0086 5008 , , NA 21429 0.3075 NA 0.006 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31914.1 12q24 2014-06-16 2001-11-28 ENSG00000175970 ENSG00000175970 84747 16488 protein-coding gene gene with protein product POC7 centriolar protein homolog B (Chlamydomonas) unc119 (C.elegans) homolog B NA Standard NM_001080533 NM_001080533 NA Approved MGC5139, POC7B uc001tyz.4 A6NIH7 OTTHUMG00000169201 ENST00000344651.4:c.*2970A>G chr12.hg19:g.121160805A>G NA hg19 CCDS31914.1 0.02 6.496986 GTGxTTG COVERED NOVEL UNC119B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402857.1 3 6.018371 KEEP 0 0 0 20 632 AA 0.999863 0.999863 0 + 7 60 264 0 0 16.726778 183 60 6500 226 ENST00000344651.4 0.036842 1 ACADS 35 __UNKNOWN__ __UNKNOWN__ 12 121176293 121176293 __UNKNOWN__ Intron SNP C C T rs17848090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121176293C>T ENST00000242592.4 + 6 946 ACADS_ENST00000411593.2_Intron NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain NA NA butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) Flavin adenine dinucleotide(DB03147) AGGCCAGGCCCGCGCCCCGGC 0.697 NA T||| 378 0.0754792 0.0045 0.0043 5008 , , NA 14050 0.2986 NA 0.006 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 T 15,4383 0,15,2184 18 22 21 -6.8 0 12 dbSNP_123 21 73,8525 0,73,4226 no intron ACADS NM_000017.2 0,88,6410 TT,TC,CC 0.849,0.3411,0.6771 121176293 88,12908 2199 4299 6498 SO:0001627 intron_variant M26393 CCDS9207.1 12q24.31 2012-07-13 2010-04-30 ENSG00000122971 ENSG00000122971 35 1.3.8.1 90 protein-coding gene gene with protein product 606885 acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain NA 2565344 Standard NM_000017 NM_000017 NA Approved SCAD, ACAD3 uc001tza.4 P16219 OTTHUMG00000169203 ENST00000242592.4:c.795+40C>T chr12.hg19:g.121176293C>T NA P78331 hg19 CCDS9207.1 0.02 6.125227 GCCxGCG COVERED NOVEL ACADS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402861.1 0 17.088617 KEEP 0 1 32 68 2292 CC 1 1 0 + 8 60 280 0 0 17.481867 179 60 6199 317 ENST00000242592.4 0.042781 1 ACADS 35 __UNKNOWN__ __UNKNOWN__ 12 121177366 121177366 __UNKNOWN__ 3'UTR SNP G G A rs2229534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121177366G>A ENST00000242592.4 + 0 1505 ACADS_ENST00000411593.2_3'UTR NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain NA NA butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660) central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) Flavin adenine dinucleotide(DB03147) ACCCCAGATGGGCTCAGTGCT 0.706 NA G||| 378 0.0754792 0.0045 0.0043 5008 , , NA 12964 0.2986 NA 0.006 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M26393 CCDS9207.1 12q24.31 2012-07-13 2010-04-30 ENSG00000122971 ENSG00000122971 35 1.3.8.1 90 protein-coding gene gene with protein product 606885 acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain NA 2565344 Standard NM_000017 NM_000017 NA Approved SCAD, ACAD3 uc001tza.4 P16219 OTTHUMG00000169203 ENST00000242592.4:c.*115G>A chr12.hg19:g.121177366G>A NA P78331 hg19 CCDS9207.1 0.02 8.424134 ATGxGCT COVERED NOVEL ACADS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402861.1 2 17.756499 KEEP 0 0 0 59 2074 GG 1 1 0 + 8 60 287 0 0 17.604174 212 60 7708 350 ENST00000242592.4 0.036364 1 HNF1A 6927 __UNKNOWN__ __UNKNOWN__ 12 121439598 121439598 __UNKNOWN__ 3'UTR SNP G G A rs11065390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121439598G>A ENST00000257555.6 + 0 2725 HNF1A_ENST00000541395.1_3'UTR P20823 HNF1A_HUMAN HNF1 homeobox A NA NA glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623) cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) gggctctaaCGCCTGAGCCCA 0.612 NA Hepatic Adenoma, Familial Clustering of .||| 601 0.120008 0.1483 0.0144 5008 , , NA 19913 0.2718 NA 0.0159 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl. Maturity-Onset Diabetes of the Young type 3, MODY3 M57732 CCDS9209.1 12q24.31 2014-09-17 2007-08-24 2007-08-24 ENSG00000135100 ENSG00000135100 6927 Homeoboxes / HNF class 11621 protein-coding gene gene with protein product 142410 transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor MODY3, TCF1 NA 1535333, 7795649 Standard NM_000545 NM_000545 NA Approved HNF1, LFB1 uc001tzg.3 P20823 OTTHUMG00000151015 ENST00000257555.6:c.*603G>A chr12.hg19:g.121439598G>A NA A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861 hg19 CCDS9209.1 0.02 24.879256 AACxCCT COVERED NOVEL HNF1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320957.5 1 20.164741 KEEP 0 0 0 67 2328 GG 1 1 0 + 19 60 674 0 0 39.859889 583 60 21083 797 ENST00000257555.6 0.031561 1 P2RX7 5027 __UNKNOWN__ __UNKNOWN__ 12 121600319 121600319 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121600319C>T ENST00000546057.1 + 5 672 c.529C>T c.(529-531)Ccc>Tcc p.P177S P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.P87S|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000377162.2_Missense_Mutation_p.P177S NM_002562.5 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 177 NA apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233) bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGAAGAGGCCCCCCGGTGAGT 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 52 53 52 NA NA 12 NA 121600319 2203 4300 6503 SO:0001583 missense Y09561 CCDS9213.1 12q24 2012-01-17 ENSG00000089041 ENSG00000089041 5027 Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic 8537 protein-coding gene gene with protein product 602566 NA 9038151, 9826911 Standard NM_002562 NM_002562 NA Approved P2X7, MGC20089 uc001tzm.3 Q99572 OTTHUMG00000169153 ENST00000546057.1:c.529C>T chr12.hg19:g.121600319C>T ENSP00000442349:p.Pro177Ser NA A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7 hg19 CCDS9213.1 0.02 4.246479 GCCxCCC COVERED . . . . . . . . . . C 16.27 3.074958 0.55646 . . ENSG00000089041 ENST00000546057;ENST00000377162;ENST00000535250 T;T;T 0.06371 3.31;3.31;3.31 5.58 5.58 0.84498 . 0.172919 0.41712 D 0.000828 T 0.24624 0.0597 M 0.70108 2.13 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.993;0.999 T 0.00103 -1.2060 10 0.87932 D 0 . 15.0579 0.71930 0.0:1.0:0.0:0.0 . 87;177 F5H7E8;Q99572 .;P2RX7_HUMAN S 177;177;87 ENSP00000442349:P177S;ENSP00000366367:P177S;ENSP00000442572:P87S ENSP00000366367:P177S P + 1 0 P2RX7 120084702 0.983000 0.35010 0.970000 0.41538 0.274000 0.26718 3.875000 0.56108 2.625000 0.88918 0.655000 0.94253 CCC NOVEL P2RX7-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402532.1 0 5.4173 KEEP 0 0 0 18 629 CC 0.999859 0.999846 0 + 6 60 215 0 0 14.355786 100 60 3530 140 ENST00000546057.1 0.056604 0.999987 P2RX7 5027 __UNKNOWN__ __UNKNOWN__ 12 121622239 121622239 __UNKNOWN__ Silent SNP C C T rs3751144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121622239C>T ENST00000546057.1 + 13 1565 c.1422C>T c.(1420-1422)ccC>ccT p.P474P P2RX7_ENST00000541446.1_Silent_p.P185P|P2RX7_ENST00000535250.1_Silent_p.P384P|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000328963.5_Silent_p.P304P NM_002562.5 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 474 NA apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233) bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGGATAGCCCCGTCTGGTGCC 0.617 NA C||| 808 0.161342 0.1581 0.2608 5008 , , NA 16472 0.1558 NA 0.0755 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 C 689,3717 289.2+/-280.3 56,577,1570 64 60 61 1422 -10.4 0 12 dbSNP_107 61 631,7969 162.6+/-215.3 29,573,3698 no coding-synonymous P2RX7 NM_002562.5 85,1150,5268 TT,TC,CC 7.3372,15.6378,10.1492 474/596 121622239 1320,11686 2203 4300 6503 SO:0001819 synonymous_variant Y09561 CCDS9213.1 12q24 2012-01-17 ENSG00000089041 ENSG00000089041 5027 Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic 8537 protein-coding gene gene with protein product 602566 NA 9038151, 9826911 Standard NM_002562 NM_002562 NA Approved P2X7, MGC20089 uc001tzm.3 Q99572 OTTHUMG00000169153 ENST00000546057.1:c.1422C>T chr12.hg19:g.121622239C>T NA A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7 hg19 CCDS9213.1 0.02 6.467496 CCCxGTC COVERED NOVEL P2RX7-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402532.1 1 20.461776 KEEP 0 0 0 68 2284 CC 1 1 0 + 9 60 333 0 0 22.038043 173 60 6058 315 ENST00000546057.1 0.049451 1 CAMKK2 10645 __UNKNOWN__ __UNKNOWN__ 12 121701633 121701633 __UNKNOWN__ Silent SNP G G A rs570947909 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121701633G>A ENST00000324774.5 - 6 1563 c.735C>T c.(733-735)caC>caT p.H245H CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000412367.2_Silent_p.H245H|CAMKK2_ENST00000392473.2_Silent_p.H245H|CAMKK2_ENST00000446440.2_Silent_p.H245H|CAMKK2_ENST00000402834.4_Silent_p.H245H|CAMKK2_ENST00000392474.2_Silent_p.H245H|CAMKK2_ENST00000404169.3_Silent_p.H245H|CAMKK2_ENST00000337174.3_Silent_p.H245H|CAMKK2_ENST00000347034.2_Silent_p.H245H|CAMKK2_ENST00000538733.1_Silent_p.H245H NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 245 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859) cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713) endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCACATTGGGGTGGTCCAGCT 0.622 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 15952 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 81 78 79 NA NA 12 NA 121701633 2203 4300 6503 SO:0001819 synonymous_variant AF101264 CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1 12q24.2 2002-08-13 ENSG00000110931 10645 1470 protein-coding gene gene with protein product 615002 NA 9662074 Standard NM_172226 NM_172226 NA Approved CAMKK, KIAA0787, CAMKKB, MGC15254 uc001tzu.3 Q96RR4 ENST00000324774.5:c.735C>T chr12.hg19:g.121701633G>A NA A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2 hg19 CCDS9216.1 0.02 10.706308 GGGxTGG COVERED NOVEL CAMKK2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402563.1 0 17.456783 KEEP 0 0 0 58 2039 GG 1 1 0 - 11 60 391 0 0 24.464869 255 60 9431 390 ENST00000324774.5 0.041353 1 KDM2B 84678 __UNKNOWN__ __UNKNOWN__ 12 121871006 121871006 __UNKNOWN__ Intron SNP A A C rs11065575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121871006A>C ENST00000377071.4 - 23 3902 KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Intron|KDM2B_ENST00000377069.4_Intron NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B NA NA embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CTTCCAACAAAGAAGCTAGAA 0.512 NA A||| 1676 0.334665 0.1573 0.3991 5008 , , NA 21204 0.4544 NA 0.4036 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ459424 CCDS41849.1, CCDS41850.1 12q24.31 2014-02-18 2009-04-06 2009-04-06 ENSG00000089094 ENSG00000089094 84678 F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases 13610 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 1B 609078 F-box and leucine-rich repeat protein 10 FBXL10 NA 10799292 Standard NM_032590 NM_032590 NA Approved PCCX2, CXXC2, Fbl10, JHDM1B uc001uat.3 Q8NHM5 OTTHUMG00000169071 ENST00000377071.4:c.3830-2734T>G chr12.hg19:g.121871006A>C NA A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75 hg19 CCDS41850.1 0.02 1.698667 CAAxGAA COVERED 779 0.3566849816849817 68 0.13821138211382114 148 0.4088397790055249 250 0.4370629370629371 313 0.4129287598944591 A 0.733 -0.779365 0.02929 . . ENSG00000089094 ENST00000261824 . . . 0.468 -0.717 0.11208 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.43360 -0.9396 3 0.56958 D 0.05 . . . . rs11065575;rs57336617;rs11065575 . . . V 1282 . ENSP00000261824:F1282V F - 1 0 KDM2B 120355389 0.006000 0.16342 0.009000 0.14445 0.008000 0.06430 -0.095000 0.11077 -0.408000 0.07565 -0.415000 0.06103 TTT NOVEL KDM2B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402132.2 0 7.823292 KEEP 0 0 0 26 828 AA 0.999957 0.999792 0 - 4 60 134 0 0 8.207246 86 60 3189 148 ENST00000377071.4 0.044444 0.999835 KDM2B 84678 __UNKNOWN__ __UNKNOWN__ 12 121878659 121878659 __UNKNOWN__ Silent SNP C C T rs1064951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121878659C>T ENST00000377071.4 - 21 3642 c.3570G>A c.(3568-3570)caG>caA p.Q1190Q KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.Q558Q|KDM2B_ENST00000377069.4_Silent_p.Q1121Q NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 1190 NA embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GATCCCGCATCTGGGCATCCT 0.632 NA C||| 1675 0.334465 0.1573 0.4006 5008 , , NA 16903 0.4514 NA 0.4046 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 C , 783,3405 80,623,1391 37 44 42 3363,3570 4.1 1 12 dbSNP_86 42 3208,5234 606,1996,1619 no coding-synonymous,coding-synonymous KDM2B NM_001005366.1,NM_032590.4 , 686,2619,3010 TT,TC,CC 38.0005,18.6963,31.5994 , 1121/1266,1190/1337 121878659 3991,8639 2094 4221 6315 SO:0001819 synonymous_variant AJ459424 CCDS41849.1, CCDS41850.1 12q24.31 2014-02-18 2009-04-06 2009-04-06 ENSG00000089094 ENSG00000089094 84678 F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases 13610 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 1B 609078 F-box and leucine-rich repeat protein 10 FBXL10 NA 10799292 Standard NM_032590 NM_032590 NA Approved PCCX2, CXXC2, Fbl10, JHDM1B uc001uat.3 Q8NHM5 OTTHUMG00000169071 ENST00000377071.4:c.3570G>A chr12.hg19:g.121878659C>T NA A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75 hg19 CCDS41850.1 0.02 5.924801 CATxTGG COVERED NOVEL KDM2B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402132.2 2 19.261745 KEEP 0 0 0 64 2253 CC 1 1 0 - 9 60 302 0 0 19.647032 144 60 5279 259 ENST00000377071.4 0.058824 1 KDM2B 84678 __UNKNOWN__ __UNKNOWN__ 12 121882098 121882098 __UNKNOWN__ Intron SNP T T G rs3817551 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:121882098T>G ENST00000377071.4 - 16 2263 KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Intron|KDM2B_ENST00000377069.4_Intron NM_032590.4 NP_115979.3 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B NA NA embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 AAAGAGAGAATGAACAGACCA 0.587 NA OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1679 0.335264 0.1573 0.4006 5008 , , NA 16738 0.4544 NA 0.4056 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 G , 769,3287 77,615,1336 37 38 38 , 3.8 1 12 dbSNP_107 38 3149,5145 602,1945,1600 no intron,intron KDM2B NM_001005366.1,NM_032590.4 , 679,2560,2936 GG,GT,TT 37.9672,18.9596,31.7247 , , 121882098 3918,8432 2028 4147 6175 SO:0001627 intron_variant AJ459424 CCDS41849.1, CCDS41850.1 12q24.31 2014-02-18 2009-04-06 2009-04-06 ENSG00000089094 ENSG00000089094 84678 F-boxes / Leucine-rich repeats, Chromatin-modifying enzymes / K-demethylases 13610 protein-coding gene gene with protein product jumonji C domain-containing histone demethylase 1B 609078 F-box and leucine-rich repeat protein 10 FBXL10 NA 10799292 Standard NM_032590 NM_032590 NA Approved PCCX2, CXXC2, Fbl10, JHDM1B uc001uat.3 Q8NHM5 OTTHUMG00000169071 ENST00000377071.4:c.2191-23A>C chr12.hg19:g.121882098T>G 1514 A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75 hg19 CCDS41850.1 0.02 24.660438 GAAxGAA COVERED NOVEL KDM2B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000402132.2 2 51.612157 KEEP 0 1 9 175 5375 TT 1 1 0 - 23 60 846 0 0 53.550538 558 60 20201 942 ENST00000377071.4 0.039587 1 WDR66 144406 __UNKNOWN__ __UNKNOWN__ 12 122441307 122441307 __UNKNOWN__ Intron SNP A A G rs7961660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:122441307A>G ENST00000288912.4 + 22 4191 NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 NA NA calcium ion binding (GO:0005509) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) gcgagaccccatctctacaaa 0.527 NA A||| 776 0.154952 0.3548 0.0375 5008 , , NA 17933 0.0744 NA 0.0249 False NA ,,, NA NA NA 2504 0.1851 NA NA NA Esophageal Squamous(85;849 1794 49757 52143) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL833930 CCDS41853.1, CCDS53840.1 12q24.31 2014-07-31 ENSG00000158023 ENSG00000158023 144406 WD repeat domain containing 28506 protein-coding gene gene with protein product NA 17967944 Standard NM_144668 NM_001178003 NA Approved MGC33630, CaM-IP4 uc009zxk.3 Q8TBY9 OTTHUMG00000168948 ENST00000288912.4:c.3338-251A>G chr12.hg19:g.122441307A>G NA C9J1W2|Q8IYA3|Q8N898|Q8NDE7 hg19 CCDS41853.1 0.02 -0.14036 CCCxTCT COVERED NOVEL WDR66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000401700.1 1 2.406549 KEEP 0 0 0 8 242 AA 0.99257 0.259026 0 + 9 60 300 0 0 29.530792 7 60 248 29 ENST00000288912.4 0.5625 0.260965 MLXIP 22877 __UNKNOWN__ __UNKNOWN__ 12 122612325 122612325 __UNKNOWN__ Intron SNP G G A rs7488393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:122612325G>A ENST00000319080.7 + 3 652 MLX interacting protein NA NA NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GAAGGAAAGGGTACCTGGGAA 0.547 NA G||| 2275 0.454273 0.4546 0.3919 5008 , , NA 20046 0.5079 NA 0.4404 False NA ,,, NA NA NA 2504 0.4571 NA NA NA Esophageal Squamous(105;787 1493 16200 18566 52466) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020674 CCDS73540.1 12q21.31 2013-05-21 ENSG00000175727 22877 Basic helix-loop-helix proteins 17055 protein-coding gene gene with protein product 608090 NA 10048485, 11073985 Standard NM_014938 XM_006719290 NA Approved MONDOA, KIAA0867, MIR, bHLHe36 uc001ubq.3 Q9HAP2 ENST00000319080.7:c.521-105G>A chr12.hg19:g.122612325G>A NA hg19 0.02 3.889529 AGGxTAC COVERED NOVEL MLXIP-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000401718.2 0 3.912284 KEEP 0 0 0 13 440 GG 0.994391 0.99439 0 + 6 60 212 1 0 13.636343 118 60 4136 139 ENST00000319080.7 0.048387 0.999999 MLXIP 22877 __UNKNOWN__ __UNKNOWN__ 12 122612350 122612350 __UNKNOWN__ Intron SNP G G T rs7486198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:122612350G>T ENST00000319080.7 + 3 652 MLX interacting protein NA NA NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GTCTGCCCTAGGGGAGGGGTG 0.547 NA G||| 2519 0.502995 0.6293 0.4107 5008 , , NA 19807 0.5079 NA 0.4404 False NA ,,, NA NA NA 2504 0.4571 NA NA NA Esophageal Squamous(105;787 1493 16200 18566 52466) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020674 CCDS73540.1 12q21.31 2013-05-21 ENSG00000175727 22877 Basic helix-loop-helix proteins 17055 protein-coding gene gene with protein product 608090 NA 10048485, 11073985 Standard NM_014938 XM_006719290 NA Approved MONDOA, KIAA0867, MIR, bHLHe36 uc001ubq.3 Q9HAP2 ENST00000319080.7:c.521-80G>T chr12.hg19:g.122612350G>T NA hg19 0.02 6.421676 CTAxGGG COVERED NOVEL MLXIP-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000401718.2 1 9.029511 KEEP 0 0 0 30 1065 GG 0.999997 0.999997 0 + 6 60 219 0 0 13.774885 147 60 5591 198 ENST00000319080.7 0.039216 1 MLXIP 22877 __UNKNOWN__ __UNKNOWN__ 12 122614060 122614060 __UNKNOWN__ Intron SNP G G T rs7487608 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:122614060G>T ENST00000319080.7 + 5 828 MLX interacting protein NA NA NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CTCCCTGAGAGTTCTGTATAT 0.587 NA G||| 2338 0.466853 0.5545 0.3833 5008 , , NA 18761 0.506 NA 0.3996 False NA ,,, NA NA NA 2504 0.4366 NA NA NA Esophageal Squamous(105;787 1493 16200 18566 52466) NA 0 G 737,647 198,341,153 27 28 28 1 0 12 dbSNP_116 28 1433,1749 332,769,490 no intron MLXIP NM_014938.3 530,1110,643 TT,TG,GG 45.0346,46.7486,47.5252 122614060 2170,2396 692 1591 2283 SO:0001627 intron_variant AB020674 CCDS73540.1 12q21.31 2013-05-21 ENSG00000175727 22877 Basic helix-loop-helix proteins 17055 protein-coding gene gene with protein product 608090 NA 10048485, 11073985 Standard NM_014938 XM_006719290 NA Approved MONDOA, KIAA0867, MIR, bHLHe36 uc001ubq.3 Q9HAP2 ENST00000319080.7:c.697-75G>T chr12.hg19:g.122614060G>T NA hg19 0.02 8.654706 AGAxTTC COVERED NOVEL MLXIP-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000401718.2 1 14.145196 KEEP 0 0 0 47 1660 GG 1 1 0 + 7 60 258 0 0 15.420297 232 60 8676 340 ENST00000319080.7 0.029289 1 HCAR2 338442 __UNKNOWN__ __UNKNOWN__ 12 123185864 123185864 __UNKNOWN__ 3'UTR SNP A A G rs199983835 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123185864A>G ENST00000328880.5 - 0 2026 HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 NA NA negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nicotinic acid receptor activity (GO:0070553) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Niacin(DB00627) ATTTATTGAAATGGTAGATTT 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY148884 CCDS9235.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000182782 ENSG00000182782 338442 GPCR / Class A : Hydroxy-carboxylic acid receptors 24827 protein-coding gene gene with protein product niacin receptor 1 609163 G protein-coupled receptor 109A GPR109A NA 21167710, 12522134, 12646212, 19141678, 18983141, 21454438 Standard NM_177551 NM_177551 NA Approved HCA2, HM74A, PUMAG, Puma-g, NIACR1 uc001ucx.1 Q8TDS4 OTTHUMG00000162722 ENST00000328880.5:c.*875T>C chr12.hg19:g.123185864A>G NA A0PJL5|A7LGG3 hg19 CCDS9235.1 0.02 19.18397 GAAxTGG COVERED NOVEL HCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370202.1 3 16.785666 KEEP 29 1 35 68 2182 AA 1 1 0 - 19 60 745 0 0 49.669973 416 60 14834 626 ENST00000328880.5 0.043678 1 HCAR2 338442 __UNKNOWN__ __UNKNOWN__ 12 123185962 123185962 __UNKNOWN__ 3'UTR SNP T T G rs373564293 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123185962T>G ENST00000328880.5 - 0 1928 HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 NA NA negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nicotinic acid receptor activity (GO:0070553) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Niacin(DB00627) CCTTTTAATGTTAAAAGCAAA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY148884 CCDS9235.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000182782 ENSG00000182782 338442 GPCR / Class A : Hydroxy-carboxylic acid receptors 24827 protein-coding gene gene with protein product niacin receptor 1 609163 G protein-coupled receptor 109A GPR109A NA 21167710, 12522134, 12646212, 19141678, 18983141, 21454438 Standard NM_177551 NM_177551 NA Approved HCA2, HM74A, PUMAG, Puma-g, NIACR1 uc001ucx.1 Q8TDS4 OTTHUMG00000162722 ENST00000328880.5:c.*777A>C chr12.hg19:g.123185962T>G NA A0PJL5|A7LGG3 hg19 CCDS9235.1 0.02 40.054076 ATGxTAA COVERED NOVEL HCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370202.1 4 16.054997 KEEP 1 3 111 92 2933 TT 1 1 0 - 31 70 1184 0 0 75.289951 827 60 29643 1133 ENST00000328880.5 0.036131 1 HCAR2 338442 __UNKNOWN__ __UNKNOWN__ 12 123186365 123186365 __UNKNOWN__ 3'UTR SNP C C G rs492752 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123186365C>G ENST00000328880.5 - 0 1525 HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 NA NA negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nicotinic acid receptor activity (GO:0070553) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Niacin(DB00627) GATATCACCCCAGGAGCTGAG 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY148884 CCDS9235.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000182782 ENSG00000182782 338442 GPCR / Class A : Hydroxy-carboxylic acid receptors 24827 protein-coding gene gene with protein product niacin receptor 1 609163 G protein-coupled receptor 109A GPR109A NA 21167710, 12522134, 12646212, 19141678, 18983141, 21454438 Standard NM_177551 NM_177551 NA Approved HCA2, HM74A, PUMAG, Puma-g, NIACR1 uc001ucx.1 Q8TDS4 OTTHUMG00000162722 ENST00000328880.5:c.*374G>C chr12.hg19:g.123186365C>G NA A0PJL5|A7LGG3 hg19 CCDS9235.1 0.02 32.338409 CCCxAGG COVERED NOVEL HCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370202.1 5 12.882329 KEEP 59 4 132 89 3130 CC 1 1 0 - 17 60 655 0 0 38.709847 700 60 26246 984 ENST00000328880.5 0.02371 1 HCAR2 338442 __UNKNOWN__ __UNKNOWN__ 12 123186381 123186381 __UNKNOWN__ 3'UTR SNP T T C rs492699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123186381T>C ENST00000328880.5 - 0 1509 HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 NA NA negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) nicotinic acid receptor activity (GO:0070553) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Niacin(DB00627) CTGAGCCCCCTCCAGTCTGAG 0.532 NA C||| 1336 0.266773 0.3207 0.2017 5008 , , NA 21483 0.4613 NA 0.2256 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY148884 CCDS9235.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000182782 ENSG00000182782 338442 GPCR / Class A : Hydroxy-carboxylic acid receptors 24827 protein-coding gene gene with protein product niacin receptor 1 609163 G protein-coupled receptor 109A GPR109A NA 21167710, 12522134, 12646212, 19141678, 18983141, 21454438 Standard NM_177551 NM_177551 NA Approved HCA2, HM74A, PUMAG, Puma-g, NIACR1 uc001ucx.1 Q8TDS4 OTTHUMG00000162722 ENST00000328880.5:c.*358A>G chr12.hg19:g.123186381T>C NA A0PJL5|A7LGG3 hg19 CCDS9235.1 0.02 32.392459 CCCxCCA COVERED NOVEL HCAR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000370202.1 4 11.219827 KEEP 59 5 147 89 2787 TT 1 1 0 - 49 60 1723 0 0 118.665051 651 60 23006 947 ENST00000328880.5 0.07 1 HCAR3 8843 __UNKNOWN__ __UNKNOWN__ 12 123199842 123199842 __UNKNOWN__ 3'UTR SNP T T C rs61955033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123199842T>C ENST00000528880.2 - 0 1597 HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 NA NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Niacin(DB00627) CTGAGCCCCCTCCAGTCTGAG 0.527 NA N||| 2326 0.464457 0.5008 0.4409 5008 , , NA 18455 0.495 NA 0.5716 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D10923 CCDS53842.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000255398 8843 GPCR / Class A : Hydroxy-carboxylic acid receptors 16824 protein-coding gene gene with protein product 606039 G protein-coupled receptor 109B GPR109B NA 7505609, 9205127, 18983141, 21454438 Standard NM_006018 NM_006018 NA Approved HCA3, HM74 uc001ucy.4 P49019 ENST00000528880.2:c.*279A>G chr12.hg19:g.123199842T>C NA A8K4G5|B2R830|E9PI97|Q8NGE4 hg19 CCDS53842.1 0.02 29.280746 CCCxCCA COVERED NOVEL HCAR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387549.2 4 16.822648 KEEP 59 2 72 81 2578 TT 1 1 0 - 30 50 1088 0 0 69.792904 648 60 23050 913 ENST00000528880.2 0.044248 1 HCAR3 8843 __UNKNOWN__ __UNKNOWN__ 12 123200693 123200693 __UNKNOWN__ Missense_Mutation SNP A A G rs17884481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123200693A>G ENST00000528880.2 - 1 746 c.592T>C c.(592-594)Ttc>Ctc p.F198L HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 198 NA F -> L (in dbSNP:rs17884481). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505609, ECO:0000269|Ref.2}. G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Niacin(DB00627) AGGGGCAGGAAGAACTCCAGG 0.532 NA a||| 2323 0.463858 0.5008 0.4409 5008 , , NA 21080 0.495 NA 0.5716 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 81 83 82 NA NA 12 NA 123200693 2203 4300 6503 SO:0001583 missense D10923 CCDS53842.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000255398 8843 GPCR / Class A : Hydroxy-carboxylic acid receptors 16824 protein-coding gene gene with protein product 606039 G protein-coupled receptor 109B GPR109B NA 7505609, 9205127, 18983141, 21454438 Standard NM_006018 NM_006018 NA Approved HCA3, HM74 uc001ucy.4 P49019 ENST00000528880.2:c.592T>C chr12.hg19:g.123200693A>G ENSP00000436714:p.Phe198Leu NA A8K4G5|B2R830|E9PI97|Q8NGE4 hg19 CCDS53842.1 0.02 7.118563 GGAxGAA COVERED 1139 0.5215201465201466 251 0.5101626016260162 169 0.46685082872928174 304 0.5314685314685315 415 0.5474934036939314 A 12.20 1.867061 0.32977 . . ENSG00000255398 ENST00000528880 T 0.70164 -0.46 3.41 2.2 0.27929 . . . . . T 0.00012 0.0000 . . . 0.37167 P 0.09715600000000002 P 0.39782 0.688 B 0.39617 0.305 T 0.40194 -0.9576 7 0.07325 T 0.83 . 7.2126 0.25941 0.8006:0.0:0.0:0.1994 rs17884481 198 E9PI97 . L 198 ENSP00000436714:F198L ENSP00000436714:F198L F - 1 0 HCAR3 121766646 0.368000 0.25031 0.996000 0.52242 0.626000 0.37791 0.279000 0.18771 0.289000 0.22422 0.155000 0.16302 TTC NOVEL HCAR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387549.2 1 4.247741 KEEP 6 1 34 26 817 AA 0.999988 0.999988 0 - 10 60 386 0 0 26.703322 166 60 6031 247 ENST00000528880.2 0.056818 1 HCAR3 8843 __UNKNOWN__ __UNKNOWN__ 12 123200768 123200768 __UNKNOWN__ Missense_Mutation SNP T T G rs386767126|rs1798192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123200768T>G ENST00000528880.2 - 1 671 c.517A>C c.(517-519)Act>Cct p.T173P HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 173 NA T -> P (in dbSNP:rs1798192). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7505609, ECO:0000269|Ref.2}. G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.T173P(1) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Niacin(DB00627) ACATTTGCAGTGCCATTCTGG 0.527 NA t||| 2324 0.464058 0.5008 0.4409 5008 , , NA 21393 0.495 NA 0.5716 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T PRO/THR 2231,2175 591.4+/-387.6 583,1065,555 99 95 96 517 -4.7 0 12 dbSNP_89 96 4921,3679 621.2+/-397.2 1410,2101,789 yes missense HCAR3 NM_006018.2 38 1993,3166,1344 GG,GT,TT 42.7791,49.3645,45.01 benign 173/388 123200768 7152,5854 2203 4300 6503 SO:0001583 missense D10923 CCDS53842.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000255398 8843 GPCR / Class A : Hydroxy-carboxylic acid receptors 16824 protein-coding gene gene with protein product 606039 G protein-coupled receptor 109B GPR109B NA 7505609, 9205127, 18983141, 21454438 Standard NM_006018 NM_006018 NA Approved HCA3, HM74 uc001ucy.4 P49019 ENST00000528880.2:c.517A>C chr12.hg19:g.123200768T>G ENSP00000436714:p.Thr173Pro NA A8K4G5|B2R830|E9PI97|Q8NGE4 hg19 CCDS53842.1 0.02 10.701456 CAGxGCC COVERED 1139 0.5215201465201466 251 0.5101626016260162 169 0.46685082872928174 304 0.5314685314685315 415 0.5474934036939314 T 0.572 -0.840675 0.02692 0.506355 0.572209 ENSG00000255398 ENST00000528880 T 0.37058 1.22 2.99 -4.69 0.03299 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.06786 0.001 B 0.10450 0.005 T 0.45963 -0.9225 7 0.49607 T 0.09 . 5.7314 0.18042 0.0:0.6545:0.1482:0.1973 rs1798192;rs3741539;rs17883771;rs60927003;rs1798192 173 E9PI97 . P 173 ENSP00000436714:T173P ENSP00000436714:T173P T - 1 0 HCAR3 121766721 0.000000 0.05858 0.000000 0.03702 0.138000 0.21146 -0.594000 0.05733 -1.206000 0.02641 0.155000 0.16302 ACT NOVEL HCAR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387549.2 0 11.132785 KEEP 0 0 0 37 1149 TT 1 1 0 - 17 60 612 0 0 41.537316 261 60 9250 389 ENST00000528880.2 0.061151 1 HCAR3 8843 __UNKNOWN__ __UNKNOWN__ 12 123200937 123200937 __UNKNOWN__ Silent SNP T T G rs1696352 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123200937T>G ENST00000528880.2 - 1 502 c.348A>C c.(346-348)atA>atC p.I116I HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 116 NA G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Niacin(DB00627) CCGTGAGGAATATGATGCTGC 0.557 NA N||| 2322 0.463658 0.5008 0.4409 5008 , , NA 18413 0.495 NA 0.5726 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 G 2232,2174 585.5+/-386.3 583,1066,554 72 72 72 348 1.3 1 12 dbSNP_89 72 4931,3669 526.8+/-381.0 1416,2099,785 no coding-synonymous HCAR3 NM_006018.2 1999,3165,1339 GG,GT,TT 42.6628,49.3418,44.9254 116/388 123200937 7163,5843 2203 4300 6503 SO:0001819 synonymous_variant D10923 CCDS53842.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000255398 8843 GPCR / Class A : Hydroxy-carboxylic acid receptors 16824 protein-coding gene gene with protein product 606039 G protein-coupled receptor 109B GPR109B NA 7505609, 9205127, 18983141, 21454438 Standard NM_006018 NM_006018 NA Approved HCA3, HM74 uc001ucy.4 P49019 ENST00000528880.2:c.348A>C chr12.hg19:g.123200937T>G NA A8K4G5|B2R830|E9PI97|Q8NGE4 hg19 CCDS53842.1 0.02 16.036817 GAAxATG COVERED NOVEL HCAR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387549.2 3 5.782567 KEEP 1 2 71 44 1292 TT 1 1 0 - 16 60 589 0 0 38.328034 334 60 11996 481 ENST00000528880.2 0.045714 1 HCAR1 27198 __UNKNOWN__ __UNKNOWN__ 12 123201508 123201508 __UNKNOWN__ Intron SNP A A G rs2256572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123201508A>G ENST00000356987.2 - 2 1742 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 NA NA response to estradiol (GO:0032355) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 TAAACAAATAATAAAAATCCC 0.358 NA A||| 2347 0.46865 0.4977 0.4409 5008 , , NA 17885 0.495 NA 0.5716 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF411110 CCDS9236.1 12q24.31 2012-08-08 2011-05-30 2011-05-30 ENSG00000196917 ENSG00000196917 27198 GPCR / Class A : Hydroxy-carboxylic acid receptors 4532 protein-coding gene gene with protein product lactate receptor 1 606923 G protein-coupled receptor 104, G protein-coupled receptor 81 GPR104, GPR81 NA 11574155, 19047060, 18952058, 21454438 Standard NM_032554 NA Approved HCA1, FKSG80, TA-GPCR, LACR1 uc001ucz.3 Q9BXC0 ENST00000356987.2:c.1039-7116T>C chr12.hg19:g.123201508A>G NA B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5 hg19 CCDS9236.1 0.02 -0.359704 ATAxTAA COVERED NOVEL HCAR1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 1 2.40705 KEEP 0 0 0 8 243 AA 0.99257 0.882271 0 - 3 60 108 0 0 7.605041 37 70 1382 49 ENST00000356987.2 0.075 0.888875 VPS37B 79720 __UNKNOWN__ __UNKNOWN__ 12 123350283 123350283 __UNKNOWN__ 3'UTR SNP C C G rs117865374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123350283C>G ENST00000267202.2 - 0 2619 RP11-463O12.3_ENST00000537827.2_lincRNA NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) NA NA endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496) breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) ACCCTGGCGGCTAGGCACAGG 0.637 NA C||| 70 0.0139776 0.0 0.0 5008 , , NA 16889 0.0635 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022812 CCDS9239.1 12q24.31 2008-02-05 2006-04-04 ENSG00000139722 ENSG00000139722 79720 25754 protein-coding gene gene with protein product 610037 vacuolar protein sorting 37B (yeast) NA 15218037 Standard NM_024667 NM_024667 NA Approved FLJ12750 uc001udl.3 Q9H9H4 OTTHUMG00000168767 ENST00000267202.2:c.*1380G>C chr12.hg19:g.123350283C>G NA hg19 CCDS9239.1 0.02 9.609041 CGGxTAG COVERED NOVEL VPS37B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400946.1 1 24.674811 KEEP 0 0 0 82 2893 CC 1 1 0 - 10 60 370 0 0 24.32233 200 60 7575 353 ENST00000267202.2 0.047619 1 SBNO1 55206 __UNKNOWN__ __UNKNOWN__ 12 123801940 123801940 __UNKNOWN__ Intron SNP A A G rs57416942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123801940A>G ENST00000602398.1 - 21 2927 SBNO1_ENST00000267176.4_Intron|SBNO1_ENST00000420886.2_Intron|SBNO1_ENST00000602750.1_Intron A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) NA NA regulation of transcription, DNA-templated (GO:0006355) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TCACTTTTGCATAAGAACAAG 0.388 NA A||| 443 0.0884585 0.0348 0.062 5008 , , NA 20611 0.254 NA 0.0507 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 A , 187,4219 114.6+/-152.6 2,183,2018 33 31 32 , -5.1 0 12 dbSNP_129 32 328,8272 111.2+/-171.5 10,308,3982 no intron,intron SBNO1 NM_001167856.1,NM_018183.3 , 12,491,6000 GG,GA,AA 3.814,4.2442,3.9597 , , 123801940 515,12491 2203 4300 6503 SO:0001627 intron_variant AK001563 CCDS9246.1, CCDS53844.1 12q24.31 2006-10-06 2006-10-06 ENSG00000139697 55206 22973 protein-coding gene gene with protein product 614274 sno, strawberry notch homolog 1 (Drosophila) NA Standard NM_018183 NM_018183 NA Approved MOP3, FLJ10701, FLJ10833, Sno uc010tap.2 A3KN83 ENST00000602398.1:c.2800-37T>C chr12.hg19:g.123801940A>G NA Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2 hg19 CCDS53844.1 0.02 4.601375 TGCxTAA COVERED NOVEL SBNO1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000467684.1 2 6.015242 KEEP 0 0 0 20 574 AA 0.999863 0.999857 0 - 5 60 191 0 0 12.634433 106 60 3870 132 ENST00000602398.1 0.045045 0.999994 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123879768 123879768 __UNKNOWN__ Missense_Mutation SNP A A C rs142509669 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123879768A>C ENST00000402868.3 + 4 890 c.464A>C c.(463-465)cAa>cCa p.Q155P SETD8_ENST00000330479.4_Missense_Mutation_p.Q155P|SETD8_ENST00000478781.2_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 196 NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ATCGCCAAGCAAGCCCTGAAA 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 19 21 20 NA NA 12 NA 123879768 2203 4296 6499 SO:0001583 missense AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.464A>C chr12.hg19:g.123879768A>C ENSP00000384629:p.Gln155Pro NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 3.186436 AGCxAGC COVERED . . . . . . . . . . A 9.640 1.138687 0.21123 . . ENSG00000183955 ENST00000402868;ENST00000330479;ENST00000437502 D;D 0.98419 -4.92;-4.92 5.7 1.89 0.25635 . 0.270984 0.31061 N 0.008333 D 0.95500 0.8538 L 0.38531 1.155 0.28947 N 0.890612 B;B 0.02656 0.0;0.0 B;B 0.06405 0.001;0.002 D 0.88669 0.3194 10 0.40728 T 0.16 -2.0995 14.3773 0.66886 0.442:0.5579:0.0:0.0 . 196;155 Q9NQR1;Q9NQR1-2 SETD8_HUMAN;. P 155;155;146 ENSP00000384629:Q155P;ENSP00000332995:Q155P ENSP00000332995:Q155P Q + 2 0 SETD8 122445721 0.136000 0.22515 0.541000 0.28102 0.886000 0.51366 0.429000 0.21412 0.073000 0.16731 0.459000 0.35465 CAA NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 3 22.564804 KEEP 2 0 0 75 2315 AA 1 1 0 + 6 40 188 0 0 11.061007 127 60 4586 259 ENST00000402868.3 0.045113 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123879769 123879769 __UNKNOWN__ Silent SNP A A G rs139953522 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123879769A>G ENST00000402868.3 + 4 891 c.465A>G c.(463-465)caA>caG p.Q155Q SETD8_ENST00000330479.4_Silent_p.Q155Q|SETD8_ENST00000478781.2_3'UTR Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 196 NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) TCGCCAAGCAAGCCCTGAAAA 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 19 21 20 NA NA 12 NA 123879769 2203 4296 6499 SO:0001819 synonymous_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.465A>G chr12.hg19:g.123879769A>G NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 4.165008 GCAxGCC COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 3 22.567837 KEEP 2 0 0 75 2430 AA 1 1 0 + 6 40 207 0 0 12.912131 129 60 4686 262 ENST00000402868.3 0.044444 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123893372 123893372 __UNKNOWN__ 3'UTR SNP G G A rs371525912 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123893372G>A ENST00000402868.3 + 0 2607 SETD8_ENST00000330479.4_Intron Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 NA NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) CCCTGACCCCGGCCGCTGCTG 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.*1122G>A chr12.hg19:g.123893372G>A NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 9.889889 CCCxGCC COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 2 3.044494 KEEP 0 1 31 21 724 GG 0.999879 0.999879 0 + 15 43 513 0 0 36.68152 150 60 5429 250 ENST00000402868.3 0.090909 1 SETD8 387893 __UNKNOWN__ __UNKNOWN__ 12 123893377 123893377 __UNKNOWN__ 3'UTR SNP C C A rs150980398 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:123893377C>A ENST00000402868.3 + 0 2612 SETD8_ENST00000330479.4_Intron Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 NA NA histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACCCCGGCCGCTGCTGCCAGC 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY102937 CCDS9247.1 12q24.31 2011-07-01 ENSG00000183955 ENSG00000183955 387893 Chromatin-modifying enzymes / K-methyltransferases 29489 protein-coding gene gene with protein product 607240 NA 15933070, 12086618, 12121615 Standard NM_020382 NM_020382 NA Approved SET8, SET07, PR-Set7, KMT5A uc001uew.3 Q9NQR1 OTTHUMG00000150477 ENST00000402868.3:c.*1127C>A chr12.hg19:g.123893377C>A NA A8K9D0|Q86W83|Q8TD09 hg19 CCDS9247.1 0.02 6.878067 CCGxTGC COVERED NOVEL SETD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318263.1 2 2.944735 KEEP 1 1 32 21 749 CC 0.999879 0.999879 0 + 21 43 727 0 0 56.542366 126 60 4783 227 ENST00000402868.3 0.142857 1 NCOR2 9612 __UNKNOWN__ __UNKNOWN__ 12 124826298 124826298 __UNKNOWN__ Intron SNP C C A rs560493609 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:124826298C>A ENST00000405201.1 - 34 5189 NCOR2_ENST00000404121.2_Intron|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000429285.2_Intron|NCOR2_ENST00000356219.3_Intron|NCOR2_ENST00000397355.1_Intron Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 NA NA cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTCCGCGAGGCCACAGGGGCA 0.642 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 16020 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U37146 CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1 12q24 2010-06-10 2010-06-10 ENSG00000196498 ENSG00000196498 9612 7673 protein-coding gene gene with protein product 600848 nuclear receptor co-repressor 2 NA 7566127, 8813722 Standard NM_006312 NM_001077261 NA Approved SMRT, SMRTE, TRAC-1, CTG26, TNRC14 uc010tbb.2 Q9Y618 OTTHUMG00000150455 ENST00000405201.1:c.5188+70G>T chr12.hg19:g.124826298C>A NA O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0 hg19 CCDS41858.2 0.02 3.974066 AGGxCAC COVERED NOVEL NCOR2-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000318173.2 1 15.350097 KEEP 0 0 0 51 1819 CC 1 1 0 - 5 60 179 0 0 10.970866 132 60 4918 219 ENST00000405201.1 0.036496 1 SCARB1 949 __UNKNOWN__ __UNKNOWN__ 12 125332745 125332745 __UNKNOWN__ Intron SNP T T G rs547695920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125332745T>G ENST00000261693.6 - 1 253 SCARB1_ENST00000415380.2_Intron|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Intron NM_005505.4 NP_005496.4 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 NA NA adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060) caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) ttctcctgcctcagcctcccg 0.572 NA T||| 4 0.000798722 0.0 0.0 5008 , , NA 18625 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z22555 CCDS9259.1, CCDS45008.1 12q24.32 2008-08-05 2002-09-06 2002-09-06 ENSG00000073060 ENSG00000073060 949 1664 protein-coding gene gene with protein product 601040 CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1 CD36L1 NA 7689561 Standard NM_005505 NM_001082959 NA Approved SRB1, CLA-1, CLA1, SR-BI uc001ugm.4 Q8WTV0 OTTHUMG00000168544 ENST00000261693.6:c.126+15395A>C chr12.hg19:g.125332745T>G NA F8W8N0|Q14016|Q52LZ5|Q6KFX4 hg19 CCDS9259.1 0.02 -0.052638 GCCxCAG UNCOVERED NOVEL SCARB1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400166.1 2 2.406752 KEEP 2 0 0 8 243 TT 0 0 0 - 4 60 151 0 0 15.349828 2 60 66 16 ENST00000261693.6 0.666667 0.036766 UBC 7316 __UNKNOWN__ __UNKNOWN__ 12 125397364 125397364 __UNKNOWN__ Intron SNP A A G rs8963 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125397364A>G ENST00000538617.1 - 3 768 UBC_ENST00000536769.1_Silent_p.T318T|UBC_ENST00000339647.5_Silent_p.T318T|UBC_ENST00000546120.1_Silent_p.T242T P0CG48 UBC_HUMAN ubiquitin C NA NA activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CCACTTCGAGAGTGATGGTCT 0.522 NA G||| 2306 0.460463 0.1778 0.5476 5008 , , NA 27904 0.2083 NA 0.7714 False NA ,,, NA NA NA 2504 0.7209 NA NA NA NA 0 92 78 82 NA NA 12 NA 125397364 2202 4286 6488 SO:0001627 intron_variant CCDS9260.1 12q24.3 2008-09-08 ENSG00000150991 ENSG00000150991 7316 12468 protein-coding gene gene with protein product polyubiquitin-C 191340 NA 1315303, 11872750 Standard NM_021009 NM_021009 NA Approved uc001ugs.4 P0CG48 ENST00000538617.1:c.451+502T>C chr12.hg19:g.125397364A>G NA P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7 hg19 0.02 1.725426 GAGxGTG COVERED NOVEL UBC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400179.1 0 22.927635 KEEP 23 1 10 80 2564 AA 1 0.999726 0 - 6 46 174 0 0 10.947412 81 60 3005 244 ENST00000538617.1 0.068966 0.999726 UBC 7316 __UNKNOWN__ __UNKNOWN__ 12 125398039 125398039 __UNKNOWN__ Silent SNP G G C rs1071862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125398039G>C ENST00000538617.1 - 3 595 c.279C>G c.(277-279)gtC>gtG p.V93V UBC_ENST00000536769.1_Silent_p.V93V|UBC_ENST00000339647.5_Silent_p.V93V|UBC_ENST00000546120.1_Silent_p.V93V P0CG48 UBC_HUMAN ubiquitin C 473 Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}. NA activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CACTGGGCTCGACCTCAAGGG 0.542 NA -||| 2325 0.464257 0.177 0.549 5008 , , NA 26712 0.2202 NA 0.7763 False NA ,,, NA NA NA 2504 0.7229 NA NA NA NA 0 G 1183,3223 170,843,1190 239 210 220 279 -4.2 0.9 12 dbSNP_86 220 6803,1797 2681,1441,178 no coding-synonymous UBC NM_021009.5 2851,2284,1368 CC,CG,GG 20.8953,26.8498,38.5976 93/686 125398039 7986,5020 2203 4300 6503 SO:0001819 synonymous_variant CCDS9260.1 12q24.3 2008-09-08 ENSG00000150991 ENSG00000150991 7316 12468 protein-coding gene gene with protein product polyubiquitin-C 191340 NA 1315303, 11872750 Standard NM_021009 NM_021009 NA Approved uc001ugs.4 P0CG48 ENST00000538617.1:c.279C>G chr12.hg19:g.125398039G>C NA P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7 hg19 0.02 9.743418 CTCxACC COVERED NOVEL UBC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400179.1 2 42.529888 KEEP 0 4 133 188 6319 GG 1 1 0 - 18 60 656 0 0 47.016307 211 60 7458 550 ENST00000538617.1 0.078603 1 UBC 7316 __UNKNOWN__ __UNKNOWN__ 12 125399167 125399167 __UNKNOWN__ 5'UTR SNP T T C rs13624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125399167T>C ENST00000538617.1 - 0 279 UBC_ENST00000536769.1_5'UTR|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_5'UTR|UBC_ENST00000546120.1_5'UTR P0CG48 UBC_HUMAN ubiquitin C NA NA activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068) cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) AAACAAGAACTGCGACCCAAA 0.647 NA T||| 2450 0.489217 0.2655 0.5591 5008 , , NA 14558 0.2202 NA 0.7763 False NA ,,, NA NA NA 2504 0.7239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS9260.1 12q24.3 2008-09-08 ENSG00000150991 ENSG00000150991 7316 12468 protein-coding gene gene with protein product polyubiquitin-C 191340 NA 1315303, 11872750 Standard NM_021009 NM_021009 NA Approved uc001ugs.4 P0CG48 ENST00000538617.1:c.-38A>G chr12.hg19:g.125399167T>C NA P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7 hg19 0.02 10.826319 AACxGCG COVERED NOVEL UBC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400179.1 1 79.642706 KEEP 0 7 225 344 10498 TT 1 1 0 - 14 60 489 0 0 31.075814 284 60 10272 840 ENST00000538617.1 0.04698 1 DHX37 57647 __UNKNOWN__ __UNKNOWN__ 12 125431582 125431582 __UNKNOWN__ 3'UTR SNP C C G rs12330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125431582C>G ENST00000544745.1 - 0 3906 DHX37_ENST00000308736.2_3'UTR Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 NA NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCACCCTCCCCCTCCCACCTC 0.627 NA C||| 1039 0.207468 0.4062 0.1297 5008 , , NA 12725 0.13 NA 0.1392 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647 DEAH-boxes 17210 protein-coding gene gene with protein product DEAD/DEAH box helicase DDX37 DDX37 NA 10819331 Standard NM_032656 NM_032656 NA Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.*908G>C chr12.hg19:g.125431582C>G NA Q9BUI7|Q9P211 hg19 0.02 1.71585 CCCxCTC COVERED NOVEL DHX37-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000400197.1 0 4.514191 KEEP 0 0 0 15 514 CC 0.99649 0.970547 0 - 4 60 125 0 0 8.220999 50 60 1816 81 ENST00000544745.1 0.074074 0.973965 DHX37 57647 __UNKNOWN__ __UNKNOWN__ 12 125431884 125431884 __UNKNOWN__ 3'UTR SNP A A G rs3803144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125431884A>G ENST00000544745.1 - 0 3604 DHX37_ENST00000308736.2_3'UTR Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 NA NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CACAGAGCTCAGTGGCTCACC 0.637 NA G||| 1045 0.208666 0.4062 0.1297 5008 , , NA 14752 0.13 NA 0.1451 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647 DEAH-boxes 17210 protein-coding gene gene with protein product DEAD/DEAH box helicase DDX37 DDX37 NA 10819331 Standard NM_032656 NM_032656 NA Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.*606T>C chr12.hg19:g.125431884A>G NA Q9BUI7|Q9P211 hg19 0.02 10.878262 CTCxGTG COVERED NOVEL DHX37-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000400197.1 0 14.141782 KEEP 0 0 0 47 1470 AA 1 1 0 - 13 60 468 0 0 29.92698 279 60 10454 420 ENST00000544745.1 0.044521 1 DHX37 57647 __UNKNOWN__ __UNKNOWN__ 12 125431929 125431929 __UNKNOWN__ 3'UTR SNP C C T rs3825379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125431929C>T ENST00000544745.1 - 0 3559 DHX37_ENST00000308736.2_3'UTR Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 NA NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CAGGGCTGGGCAGCCCTCCCT 0.662 NA C||| 1038 0.207268 0.4054 0.1282 5008 , , NA 14821 0.131 NA 0.1392 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647 DEAH-boxes 17210 protein-coding gene gene with protein product DEAD/DEAH box helicase DDX37 DDX37 NA 10819331 Standard NM_032656 NM_032656 NA Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.*561G>A chr12.hg19:g.125431929C>T NA Q9BUI7|Q9P211 hg19 0.02 8.040839 GGGxAGC COVERED NOVEL DHX37-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000400197.1 0 12.039194 KEEP 0 0 0 40 1427 CC 1 1 0 - 9 60 320 0 0 19.623646 232 60 8647 341 ENST00000544745.1 0.037344 1 DHX37 57647 __UNKNOWN__ __UNKNOWN__ 12 125438616 125438616 __UNKNOWN__ Intron SNP A A C rs11831506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125438616A>C ENST00000544745.1 - 16 2049 DHX37_ENST00000308736.2_Intron Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 NA NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCACCCTCCAACGGGCAGGGC 0.672 NA N||| 1309 0.261382 0.5454 0.2046 5008 , , NA 15491 0.1498 NA 0.172 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 G 2231,2175 561,1109,533 36 45 42 3.3 0 12 dbSNP_120 42 1469,7131 127,1215,2958 no intron DHX37 NM_032656.3 688,2324,3491 CC,CA,AA 17.0814,49.3645,28.4484 125438616 3700,9306 2203 4300 6503 SO:0001627 intron_variant AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647 DEAH-boxes 17210 protein-coding gene gene with protein product DEAD/DEAH box helicase DDX37 DDX37 NA 10819331 Standard NM_032656 NM_032656 NA Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.1939+16T>G chr12.hg19:g.125438616A>C NA Q9BUI7|Q9P211 hg19 0.02 14.379386 CCAxCGG COVERED NOVEL DHX37-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000400197.1 2 18.047399 KEEP 0 0 0 60 1819 AA 1 1 0 - 15 60 572 0 0 38.259953 296 60 10382 450 ENST00000544745.1 0.048232 1 DHX37 57647 __UNKNOWN__ __UNKNOWN__ 12 125441359 125441359 __UNKNOWN__ Silent SNP T T C rs10773127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125441359T>C ENST00000544745.1 - 15 1801 c.1692A>G c.(1690-1692)acA>acG p.T564T DHX37_ENST00000308736.2_Silent_p.T777T Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 777 Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}. NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) p.T777T(1) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCACGGGGAATGTGGCCATTG 0.642 NA C||| 1904 0.380192 0.8533 0.2536 5008 , , NA 19284 0.2034 NA 0.2058 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 1 Substitution - coding silent(1) large_intestine(1) C 3352,1054 382.3+/-324.4 1296,760,147 95 93 93 2331 -3 1 12 dbSNP_120 93 1821,6779 729.8+/-406.7 189,1443,2668 no coding-synonymous DHX37 NM_032656.3 1485,2203,2815 CC,CT,TT 21.1744,23.9219,39.774 777/1158 125441359 5173,7833 2203 4300 6503 SO:0001819 synonymous_variant AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647 DEAH-boxes 17210 protein-coding gene gene with protein product DEAD/DEAH box helicase DDX37 DDX37 NA 10819331 Standard NM_032656 NM_032656 NA Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.1692A>G chr12.hg19:g.125441359T>C NA Q9BUI7|Q9P211 hg19 0.02 4.013368 GAAxGTG COVERED NOVEL DHX37-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000400197.1 0 11.119436 KEEP 0 0 0 37 1090 TT 1 1 0 - 11 60 347 0 0 23.097678 133 60 4769 238 ENST00000544745.1 0.076389 1 DHX37 57647 __UNKNOWN__ __UNKNOWN__ 12 125450416 125450416 __UNKNOWN__ Intron SNP G G T rs73229568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125450416G>T ENST00000544745.1 - 10 1061 DHX37_ENST00000308736.2_Intron Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 NA NA ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGAGGACGTGGCACGTGCAGG 0.597 NA G||| 407 0.08127 0.0567 0.0562 5008 , , NA 18881 0.0784 NA 0.1123 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040950 CCDS9261.1 12q24.31 2004-03-25 2003-06-13 2003-06-20 ENSG00000150990 57647 DEAH-boxes 17210 protein-coding gene gene with protein product DEAD/DEAH box helicase DDX37 DDX37 NA 10819331 Standard NM_032656 NM_032656 NA Approved KIAA1517, MGC4322, MGC2695 uc001ugy.3 Q8IY37 ENST00000544745.1:c.952-58C>A chr12.hg19:g.125450416G>T NA Q9BUI7|Q9P211 hg19 0.02 6.342342 GTGxCAC COVERED NOVEL DHX37-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000400197.1 0 7.825646 KEEP 0 0 0 26 940 GG 0.999957 0.999957 0 - 9 60 336 0 0 22.274917 176 60 6414 250 ENST00000544745.1 0.048649 1 BRI3BP 140707 __UNKNOWN__ __UNKNOWN__ 12 125510104 125510104 __UNKNOWN__ 3'UTR SNP G G A rs1055472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:125510104G>A ENST00000341446.8 + 0 975 NM_080626.5 NP_542193.3 BRI3 binding protein NA NA large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) GCGCTGTGTAGGGCTATTTCC 0.473 NA .||| 2538 0.506789 0.7852 0.4784 5008 , , NA 18048 0.4077 NA 0.329 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF284094 CCDS9262.1 12q24.1 2008-08-04 ENSG00000184992 ENSG00000184992 140707 14251 protein-coding gene gene with protein product 615627 NA 11860200, 17765869 Standard NM_080626 NM_080626 NA Approved BNAS1, KG19, HCCR-2 uc001uha.1 Q8WY22 OTTHUMG00000168548 ENST00000341446.8:c.*128G>A chr12.hg19:g.125510104G>A NA hg19 CCDS9262.1 0.02 4.839565 GTAxGGC COVERED NOVEL BRI3BP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000400200.2 3 6.019728 KEEP 0 0 0 20 718 GG 0.999863 0.999861 0 + 5 60 181 0 0 11.502471 113 60 4333 166 ENST00000341446.8 0.042373 0.999998 RP5-944M2.3 0 __UNKNOWN__ __UNKNOWN__ 12 126932624 126932624 __UNKNOWN__ lincRNA SNP G G A rs758564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:126932624G>A ENST00000397346.3 + 0 422 NA NA NA AGTGGCTATCGGGGCAGACAA 0.403 NA G||| 2709 0.540935 0.3487 0.67 5008 , , NA 19489 0.7034 NA 0.508 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000397346.3: chr12.hg19:g.126932624G>A NA hg19 0.02 2.32061 ATCxGGG COVERED NOVEL RP5-944M2.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000399847.1 2 3.912133 KEEP 0 0 0 13 439 GG 0.994391 0.993094 0 + 4 60 152 0 0 10.304925 72 60 2558 107 ENST00000397346.3 0.052632 0.998696 TMEM132C 92293 __UNKNOWN__ __UNKNOWN__ 12 128899411 128899411 __UNKNOWN__ Missense_Mutation SNP A A C rs565112858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:128899411A>C ENST00000435159.2 + 2 220 c.220A>C c.(220-222)Aac>Cac p.N74H NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C 74 NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 CCTGCTGCGGAACTCCAGCCT 0.557 NA A||| 10 0.00199681 0.0 0.0 5008 , , NA 16076 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 68 61 63 NA NA 12 NA 128899411 692 1591 2283 SO:0001583 missense AK126715 12q24.32 2014-06-13 ENSG00000181234 92293 25436 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 152 NA Standard XM_044062 NM_001136103 NA Approved DKFZp761O2018, PPP1R152 uc021rgn.1 Q8N3T6 ENST00000435159.2:c.220A>C chr12.hg19:g.128899411A>C ENSP00000410852:p.Asn74His NA Q69YX8 hg19 0.02 6.08199 CGGxACT COVERED . . . . . . . . . . A 13.06 2.125521 0.37533 . . ENSG00000181234 ENST00000435159 T 0.15017 2.46 4.29 4.29 0.51040 . . . . . T 0.37758 0.1015 M 0.78637 2.42 0.45883 D 0.998738 . . . . . . T 0.34775 -0.9815 7 0.87932 D 0 . 13.733 0.62799 1.0:0.0:0.0:0.0 . . . . H 74 ENSP00000410852:N74H ENSP00000410852:N74H N + 1 0 TMEM132C 127465364 1.000000 0.71417 0.518000 0.27811 0.075000 0.17131 7.146000 0.77373 1.696000 0.51158 0.533000 0.62120 AAC NOVEL TMEM132C-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 5.716865 KEEP 0 0 0 19 587 AA 0.99986 0.99986 0 + 8 60 283 0 0 18.135115 161 60 5576 207 ENST00000435159.2 0.047337 1 TMEM132C 92293 __UNKNOWN__ __UNKNOWN__ 12 129028401 129028401 __UNKNOWN__ Intron SNP G G C rs61938604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:129028401G>C ENST00000435159.2 + 3 974 NM_001136103.2 NP_001129575.2 Q8N3T6 T132C_HUMAN transmembrane protein 132C NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 AAGTGGAAAAGCAAAACAGAA 0.527 NA G||| 865 0.172724 0.0166 0.2046 5008 , , NA 18806 0.2421 NA 0.2107 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK126715 12q24.32 2014-06-13 ENSG00000181234 92293 25436 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 152 NA Standard XM_044062 NM_001136103 NA Approved DKFZp761O2018, PPP1R152 uc021rgn.1 Q8N3T6 ENST00000435159.2:c.975-101G>C chr12.hg19:g.129028401G>C NA Q69YX8 hg19 0.02 4.159461 AAAxCAA COVERED NOVEL TMEM132C-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 3.611949 KEEP 0 0 0 12 440 GG 0.993634 0.993634 0 + 6 60 226 0 0 14.525682 144 60 5427 182 ENST00000435159.2 0.04 1 TMEM132C 92293 __UNKNOWN__ __UNKNOWN__ 12 129191753 129191753 __UNKNOWN__ 3'UTR SNP C C T rs10847670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:129191753C>T ENST00000315208.8 + 0 3268 TMEM132C_ENST00000435159.2_3'UTR|TMEM132C_ENST00000537538.1_3'UTR Q8N3T6 T132C_HUMAN transmembrane protein 132C NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1) 13 GCTGTACAGACGGGATGTGGC 0.592 NA C||| 782 0.15615 0.0061 0.0965 5008 , , NA 15308 0.3313 NA 0.1352 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK126715 12q24.32 2014-06-13 ENSG00000181234 92293 25436 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 152 NA Standard XM_044062 NM_001136103 NA Approved DKFZp761O2018, PPP1R152 uc021rgn.1 Q8N3T6 ENST00000315208.8:c.*913C>T chr12.hg19:g.129191753C>T NA Q69YX8 hg19 0.02 1.710711 AGAxGGG COVERED NOVEL TMEM132C-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000375054.3 1 3.00933 KEEP 0 0 0 10 340 CC 0.992708 0.99267 0 + 6 60 222 0 0 15.208245 94 60 3350 130 ENST00000315208.8 0.06 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 129308650 129308650 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:129308650C>G NA NA SLC15A4 (122 upstream) : GLT1D1 (29388 downstream) NA NA NA GCCCCGGGCACTAGGCGAGGA 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.129308650C>G NA hg19 0.02 2.189227 GCAxTAG COVERED NOVEL 0 0 10.835502 KEEP 0 0 0 36 1315 CC 0.999999 0.999861 0 4 60 159 0 0 10.723055 85 60 3184 165 0.044944 0.999862 GLT1D1 144423 __UNKNOWN__ __UNKNOWN__ 12 129360498 129360498 __UNKNOWN__ Silent SNP G G A rs482401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:129360498G>A ENST00000442111.2 + 2 196 c.108G>A c.(106-108)aaG>aaA p.K36K GLT1D1_ENST00000537468.1_Silent_p.K25K|GLT1D1_ENST00000281703.6_Silent_p.K36K|GLT1D1_ENST00000542193.1_5'UTR Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 36 NA biosynthetic process (GO:0009058) cytoplasm (GO:0005737)|extracellular region (GO:0005576) transferase activity, transferring glycosyl groups (GO:0016757) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GCGTTTTGAAGGATGCCTTTG 0.478 NA A||| 1704 0.340256 0.4803 0.304 5008 , , NA 16962 0.2361 NA 0.2256 False NA ,,, NA NA NA 2504 0.4018 NA NA NA NA 0 A 1921,2485 625.8+/-394.6 405,1111,687 158 159 159 108 4.4 1 12 dbSNP_83 159 1699,6901 738.4+/-407.1 185,1329,2786 no coding-synonymous GLT1D1 NM_144669.1 590,2440,3473 AA,AG,GG 19.7558,43.5996,27.8333 36/267 129360498 3620,9386 2203 4300 6503 SO:0001819 synonymous_variant CCDS9265.1 12q24.32 2013-02-22 ENSG00000151948 ENSG00000151948 144423 Glycosyltransferase group 1 domain containing 26483 protein-coding gene gene with protein product NA Standard NM_144669 NM_144669 NA Approved FLJ31978 uc001uhx.1 Q96MS3 OTTHUMG00000168437 ENST00000442111.2:c.108G>A chr12.hg19:g.129360498G>A NA Q86XG8 hg19 0.02 6.379019 GAAxGAT COVERED NOVEL GLT1D1-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000399740.1 0 7.524774 KEEP 0 0 0 25 904 GG 0.999931 0.999931 0 + 12 60 427 0 0 28.939854 180 60 6786 253 ENST00000442111.2 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 12 129498622 129498622 __UNKNOWN__ IGR SNP A A C rs11615774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:129498622A>C NA NA GLT1D1 (29113 upstream) : TMEM132D (57647 downstream) NA NA NA cgacaaaacaagactcagtct 0.433 NA A||| 1091 0.217851 0.295 0.1974 5008 , , NA 11501 0.0417 NA 0.2525 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr12.hg19:g.129498622A>C NA hg19 0.02 -0.201781 ACAxGAC COVERED NOVEL 0 1 3.912233 KEEP 0 0 0 13 421 AA 0.994391 0.487793 0 2 60 84 0 0 6.627489 16 60 572 36 0.111111 0.490544 TMEM132D 121256 __UNKNOWN__ __UNKNOWN__ 12 129566406 129566406 __UNKNOWN__ Silent SNP C C T rs79031518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:129566406C>T ENST00000422113.2 - 7 2147 c.1821G>A c.(1819-1821)acG>acA p.T607T TMEM132D_ENST00000389441.4_Silent_p.T145T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 607 NA negative regulation of phosphatase activity (GO:0010923) integral component of membrane (GO:0016021) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTATCAGCTCCGTGATGTCCA 0.627 NA C||| 507 0.101238 0.0333 0.0793 5008 , , NA 14042 0.1815 NA 0.1143 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 C 195,4211 121.3+/-158.8 3,189,2011 58 55 56 1821 -9.2 0.2 12 dbSNP_131 56 816,7784 189.3+/-236.1 30,756,3514 no coding-synonymous TMEM132D NM_133448.2 33,945,5525 TT,TC,CC 9.4884,4.4258,7.7733 607/1100 129566406 1011,11995 2203 4300 6503 SO:0001819 synonymous_variant AB061814 CCDS9266.1 12q24.32-q24.33 2014-06-13 ENSG00000151952 ENSG00000151952 121256 29411 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 153 611257 NA 11853319, 12966072 Standard NM_133448 NM_133448 NA Approved KIAA1944, MOLT, PPP1R153 uc009zyl.1 Q14C87 OTTHUMG00000168400 ENST00000422113.2:c.1821G>A chr12.hg19:g.129566406C>T NA Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57 hg19 CCDS9266.1 0.02 11.62341 CTCxGTG COVERED NOVEL TMEM132D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399592.1 0 16.550354 KEEP 0 0 0 55 1860 CC 1 1 0 - 16 60 588 0 0 39.392712 282 60 9909 435 ENST00000422113.2 0.053691 1 FZD10 11211 __UNKNOWN__ __UNKNOWN__ 12 130647709 130647709 __UNKNOWN__ Missense_Mutation SNP G G C rs10848026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:130647709G>C ENST00000539839.1 + 1 706 c.124G>C c.(124-126)Ggt>Cgt p.G42R FZD10_ENST00000229030.4_Silent_p.L74L NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled class receptor 10 0 FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}. NA brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944) cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) TCGCGCCGCTGGTGGAGTACG 0.647 NA G||| 1603 0.320088 0.3313 0.1988 5008 , , NA 12082 0.4722 NA 0.1819 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 G 1308,3098 220,868,1115 40 39 39 222 0 1 12 dbSNP_120 39 1675,6917 159,1357,2780 no coding-synonymous FZD10 NM_007197.3 379,2225,3895 CC,CG,GG 19.4949,29.6868,22.9497 74/582 130647709 2983,10015 2203 4296 6499 SO:0001583 missense AB027464 CCDS9267.1 12q24.33 2014-01-29 2014-01-29 ENSG00000111432 11211 GPCR / Class F : Frizzled receptors, CD molecules 4039 protein-coding gene gene with protein product 606147 frizzled (Drosophila) homolog 10, frizzled homolog 10 (Drosophila), frizzled 10, seven transmembrane spanning receptor, frizzled family receptor 10 NA 10448064 Standard NM_007197 NA Approved CD350 uc001uii.3 Q9ULW2 ENST00000539839.1:c.124G>C chr12.hg19:g.130647709G>C ENSP00000438460:p.Gly42Arg NA hg19 0.02 13.153414 GCTxGTG COVERED 632 0.2893772893772894 162 0.32926829268292684 73 0.20165745856353592 264 0.46153846153846156 133 0.17546174142480211 G 9.459 1.092508 0.20471 0.296868 0.194949 ENSG00000111432 ENST00000539839 . . . 4.4 0.0303 0.14166 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.46020 -0.9221 4 0.87932 D 0 . 9.7557 0.40502 0.0775:0.4099:0.5125:0.0 rs10848026;rs10848026 . . . R 42 . ENSP00000438460:G42R G + 1 0 FZD10 129213662 1.000000 0.71417 0.995000 0.50966 0.993000 0.82548 1.702000 0.37836 -0.345000 0.08325 -0.305000 0.09177 GGT NOVEL FZD10-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000399508.1 3 19.263054 KEEP 0 0 0 64 2296 GG 1 1 0 + 11 60 406 0 0 24.784988 328 60 12361 489 ENST00000539839.1 0.032448 1 RIMBP2 23504 __UNKNOWN__ __UNKNOWN__ 12 130922870 130922870 __UNKNOWN__ Intron SNP G G A rs2292665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:130922870G>A ENST00000261655.4 - 9 1769 RIMBP2_ENST00000535703.1_Intron|RIMBP2_ENST00000536002.1_Intron NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 NA NA negative regulation of phosphatase activity (GO:0010923) cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCTGCGTTAGGGCCTAACAAA 0.617 NA A||| 794 0.158546 0.1831 0.098 5008 , , NA 11773 0.2093 NA 0.1352 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 A 665,3741 735.8+/-410.7 74,517,1612 35 34 34 -2 0 12 dbSNP_100 34 712,7874 761.2+/-407.6 67,578,3648 no intron RIMBP2 NM_015347.4 141,1095,5260 AA,AG,GG 8.2926,15.0931,10.5988 130922870 1377,11615 2203 4293 6496 SO:0001627 intron_variant AB002316 CCDS31925.1 12q24.33 2014-06-13 ENSG00000060709 23504 30339 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 133 611602 NA 10748113 Standard NM_015347 NM_015347 NA Approved KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133 uc001uil.2 O15034 ENST00000261655.4:c.1605+39C>T chr12.hg19:g.130922870G>A NA Q96ID2 hg19 CCDS31925.1 0.02 2.099963 TAGxGCC COVERED NOVEL RIMBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000399520.1 0 4.514664 KEEP 0 0 0 15 526 GG 0.99649 0.991591 0 - 4 60 145 0 0 9.830475 63 60 2312 102 ENST00000261655.4 0.059701 0.995084 GPR133 283383 __UNKNOWN__ __UNKNOWN__ 12 131487352 131487352 __UNKNOWN__ Silent SNP C C T rs144732392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:131487352C>T ENST00000376682.4 + 1 309 c.54C>T c.(52-54)ggC>ggT p.G18G GPR133_ENST00000261654.5_Intron|GPR133_ENST00000535015.1_Intron Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 0 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GACCTGGGGGCGATCAGCCCC 0.642 NA C||| 4 0.000798722 0.0 0.0014 5008 , , NA 18154 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,1751 0,1,875 39 39 39 -1.8 0 12 dbSNP_134 39 0,3982 0,0,1991 no intron GPR133 NM_198827.3 0,1,2866 TT,TC,CC 0.0,0.0571,0.0174 131487352 1,5733 876 1991 2867 SO:0001819 synonymous_variant AY278561 CCDS9272.1 12q24.33 2014-08-08 ENSG00000111452 ENSG00000111452 283383 -, GPCR / Class B : Orphans 19893 protein-coding gene gene with protein product 613639 NA Standard NM_198827 NM_198827 NA Approved DKFZp434B1272, PGR25 uc001uit.4 Q6QNK2 OTTHUMG00000168339 ENST00000376682.4:c.54C>T chr12.hg19:g.131487352C>T NA B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4 hg19 0.02 1.637655 GGGxGAT COVERED NOVEL GPR133-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000399364.1 1 4.212884 KEEP 0 0 0 14 461 CC 0.995343 0.995283 0 + 5 60 184 0 0 12.235671 92 60 3054 127 ENST00000376682.4 0.051546 0.99994 RP11-638F5.1 0 __UNKNOWN__ __UNKNOWN__ 12 131687289 131687289 __UNKNOWN__ lincRNA SNP G G C rs12816480|rs386768081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:131687289G>C ENST00000376678.2 + 0 220 NR_026670.2 NA NA NA TCCTCCCCGCGACGTGACGCG 0.632 NA C||| 833 0.166334 0.2231 0.1873 5008 , , NA 15760 0.0764 NA 0.1829 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000376678.2: chr12.hg19:g.131687289G>C NA hg19 0.02 6.54635 CGCxACG COVERED NOVEL RP11-638F5.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000399382.1 0 9.595586 KEEP 0 0 0 32 1055 GG 0.999997 0.999997 0 + 8 60 306 0 0 20.349976 165 60 5675 275 ENST00000376678.2 0.046243 1 GALNT9 50614 __UNKNOWN__ __UNKNOWN__ 12 132682481 132682481 __UNKNOWN__ Silent SNP T T G rs12308155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:132682481T>G ENST00000328957.8 - 10 1520 c.1521A>C c.(1519-1521)ggA>ggC p.G507G GALNT9_ENST00000541995.1_Silent_p.G141G|GALNT9_ENST00000535228.1_Silent_p.G258G|GALNT9_ENST00000397325.2_Silent_p.G141G NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN polypeptide N-acetylgalactosaminyltransferase 9 507 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) GCTGCAGCAGTCCATCAGCGC 0.657 NA g||| 3838 0.766374 0.8464 0.768 5008 , , NA 13218 0.6776 NA 0.7416 False NA ,,, NA NA NA 2504 0.774 NA NA NA Colon(186;2147 2752 13553 41466) NA 0 G , 3639,627 1556,527,50 21 27 25 444,423 -1.3 0.5 12 dbSNP_120 25 6434,2054 2448,1538,258 no coding-synonymous,coding-synonymous GALNT9 NM_001122636.1.dup,NM_021808.3 , 4004,2065,308 GG,GT,TT 24.1989,14.6976,21.0209 , 148/245,141/238 132682481 10073,2681 2133 4244 6377 SO:0001819 synonymous_variant AB040672 CCDS41866.1 12q24.33 2014-03-13 2014-03-13 ENSG00000182870 ENSG00000182870 50614 2.4.1.41 Glycosyltransferase family 2 domain containing 4131 protein-coding gene gene with protein product polypeptide GalNAc transferase 9 606251 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) NA 10978536, 12407114 Standard NM_001122636 NM_021808 NA Approved GALNAC-T9 uc001ukc.4 Q9HCQ5 OTTHUMG00000168256 ENST00000328957.8:c.1521A>C chr12.hg19:g.132682481T>G NA Q52LR8|Q6NT54|Q8NFR1 hg19 0.02 9.816362 CAGxCCA COVERED 1610 0.7371794871794872 407 0.8272357723577236 271 0.7486187845303868 371 0.6486013986013986 561 0.7401055408970977 g 1.331 -0.596836 0.03771 0.853024 0.758011 ENSG00000182870 ENST00000411988 . . . 4.29 -1.31 0.09230 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999858 . . . . . . T 0.18147 -1.0346 3 . . . . 1.6696 0.02809 0.1813:0.2204:0.3762:0.2222 rs12308155;rs60927734 . . . P 280 . . T - 1 0 GALNT9 131248434 0.000000 0.05858 0.517000 0.27799 0.056000 0.15407 -3.091000 0.00609 -0.397000 0.07691 -0.224000 0.12420 ACT NOVEL GALNT9-009 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000402967.1 0 8.361984 KEEP 0 1 38 41 1322 TT 1 1 0 - 7 60 275 0 0 17.529996 202 60 7256 335 ENST00000328957.8 0.033493 1 GALNT9 50614 __UNKNOWN__ __UNKNOWN__ 12 132682484 132682484 __UNKNOWN__ Silent SNP A A G rs12306514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:132682484A>G ENST00000328957.8 - 10 1517 c.1518T>C c.(1516-1518)gaT>gaC p.D506D GALNT9_ENST00000541995.1_Silent_p.D140D|GALNT9_ENST00000535228.1_Silent_p.D257D|GALNT9_ENST00000397325.2_Silent_p.D140D NM_001122636.1 NP_001116108.1 Q9HCQ5 GALT9_HUMAN polypeptide N-acetylgalactosaminyltransferase 9 506 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) breast(1)|endometrium(1)|large_intestine(2)|lung(5) 9 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) GCAGCAGTCCATCAGCGCTGT 0.657 NA g||| 3838 0.766374 0.8464 0.768 5008 , , NA 13214 0.6776 NA 0.7416 False NA ,,, NA NA NA 2504 0.774 NA NA NA Colon(186;2147 2752 13553 41466) NA 0 G , 3633,629 1555,523,53 20 26 24 441,420 -8.6 0 12 dbSNP_120 24 6435,2053 2447,1541,256 no coding-synonymous,coding-synonymous GALNT9 NM_001122636.1.dup,NM_021808.3 , 4002,2064,309 GG,GA,AA 24.1871,14.7583,21.0353 , 147/245,140/238 132682484 10068,2682 2131 4244 6375 SO:0001819 synonymous_variant AB040672 CCDS41866.1 12q24.33 2014-03-13 2014-03-13 ENSG00000182870 ENSG00000182870 50614 2.4.1.41 Glycosyltransferase family 2 domain containing 4131 protein-coding gene gene with protein product polypeptide GalNAc transferase 9 606251 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) NA 10978536, 12407114 Standard NM_001122636 NM_021808 NA Approved GALNAC-T9 uc001ukc.4 Q9HCQ5 OTTHUMG00000168256 ENST00000328957.8:c.1518T>C chr12.hg19:g.132682484A>G NA Q52LR8|Q6NT54|Q8NFR1 hg19 0.02 9.044215 TCCxTCA COVERED 1610 0.7371794871794872 405 0.823170731707317 271 0.7486187845303868 370 0.6468531468531469 564 0.7440633245382586 g 0.075 -1.193740 0.01594 0.852417 0.758129 ENSG00000182870 ENST00000411988 . . . 4.29 -8.58 0.00897 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999882065 . . . . . . T 0.13045 -1.0524 3 . . . . 0.7391 0.00970 0.3454:0.1068:0.2127:0.3351 rs12306514;rs57544007;rs12306514 . . . R 279 . . W - 1 0 GALNT9 131248437 0.000000 0.05858 0.001000 0.08648 0.017000 0.09413 -2.263000 0.01174 -3.761000 0.00110 -2.025000 0.00428 TGG NOVEL GALNT9-009 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000402967.1 0 8.659989 KEEP 0 1 38 42 1278 AA 1 1 0 - 7 60 259 0 0 15.977974 199 60 7372 329 ENST00000328957.8 0.033981 1 POLE 5426 __UNKNOWN__ __UNKNOWN__ 12 133202215 133202215 __UNKNOWN__ Intron SNP G G A rs5745075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133202215G>A ENST00000320574.5 - 47 6701 POLE_ENST00000535270.1_Intron NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit NA NA base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) Cladribine(DB00242) ACGGGCAGGCGGCATGCACGA 0.642 NA DNA polymerases (catalytic subunits) G||| 2120 0.423323 0.3555 0.4452 5008 , , NA 18576 0.6657 NA 0.3052 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 G 1596,2810 498.4+/-364.1 298,1000,905 106 103 104 -5.1 0 12 dbSNP_114 104 2570,6030 418.8+/-352.9 380,1810,2110 no intron POLE NM_006231.2 678,2810,3015 AA,AG,GG 29.8837,36.2233,32.0314 133202215 4166,8840 2203 4300 6503 SO:0001627 intron_variant CCDS9278.1 12q24.3 2014-09-17 2012-05-18 ENSG00000177084 ENSG00000177084 5426 DNA polymerases 9177 protein-coding gene gene with protein product DNA polymerase epsilon catalytic subunit A 174762 polymerase (DNA directed), epsilon NA 8020968 Standard NM_006231 NM_006231 NA Approved POLE1 uc001uks.1 Q07864 OTTHUMG00000168045 ENST00000320574.5:c.6657+15C>T chr12.hg19:g.133202215G>A NA Q13533|Q86VH9 hg19 CCDS9278.1 0.02 8.578426 GGCxGCA COVERED NOVEL POLE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397689.2 1 11.135117 KEEP 0 0 0 37 1242 GG 1 1 0 - 11 60 391 0 0 25.286525 214 60 7261 301 ENST00000320574.5 0.048889 1 POLE 5426 __UNKNOWN__ __UNKNOWN__ 12 133217733 133217733 __UNKNOWN__ 5'UTR SNP C C T rs141790113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133217733C>T ENST00000434528.3 - 0 231 POLE_ENST00000535270.1_Intron|POLE_ENST00000320574.5_Intron Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit NA NA base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) Cladribine(DB00242) gcgaagtgctcggcccacctc 0.577 NA DNA polymerases (catalytic subunits) C||| 34 0.00678914 0.0 0.0 5008 , , NA 20206 0.0337 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS9278.1 12q24.3 2014-09-17 2012-05-18 ENSG00000177084 ENSG00000177084 5426 DNA polymerases 9177 protein-coding gene gene with protein product DNA polymerase epsilon catalytic subunit A 174762 polymerase (DNA directed), epsilon NA 8020968 Standard NM_006231 NM_006231 NA Approved POLE1 uc001uks.1 Q07864 OTTHUMG00000168045 ENST00000434528.3:c.-577G>A chr12.hg19:g.133217733C>T NA Q13533|Q86VH9 hg19 0.02 12.710263 GCTxGGC COVERED NOVEL POLE-027 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000467471.1 3 7.824118 KEEP 0 0 0 26 850 CC 0.999957 0.999957 0 - 11 60 403 0 0 24.415517 333 60 10825 391 ENST00000434528.3 0.031977 1 POLE 5426 __UNKNOWN__ __UNKNOWN__ 12 133236746 133236746 __UNKNOWN__ Intron SNP C C T rs4883536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133236746C>T ENST00000320574.5 - 26 3104 POLE_ENST00000535270.1_Intron NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit NA NA base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) Cladribine(DB00242) AAACTCCGGCCGGCTGGAGAG 0.547 NA DNA polymerases (catalytic subunits) C||| 2070 0.413339 0.351 0.4179 5008 , , NA 18259 0.6151 NA 0.3002 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9278.1 12q24.3 2014-09-17 2012-05-18 ENSG00000177084 ENSG00000177084 5426 DNA polymerases 9177 protein-coding gene gene with protein product DNA polymerase epsilon catalytic subunit A 174762 polymerase (DNA directed), epsilon NA 8020968 Standard NM_006231 NM_006231 NA Approved POLE1 uc001uks.1 Q07864 OTTHUMG00000168045 ENST00000320574.5:c.3061-651G>A chr12.hg19:g.133236746C>T NA Q13533|Q86VH9 hg19 CCDS9278.1 0.02 4.708074 GGCxGGC COVERED NOVEL POLE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397689.2 8 11.135662 KEEP 0 0 0 37 1270 CC 1 1 0 - 6 60 235 0 0 15.765174 126 60 4461 218 ENST00000320574.5 0.045455 1 PGAM5 192111 __UNKNOWN__ __UNKNOWN__ 12 133295329 133295329 __UNKNOWN__ Intron SNP G G A rs543470620 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133295329G>A ENST00000543955.1 + 5 1136 PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000454808.2_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000317555.2_Intron|PGAM5_ENST00000498926.2_Intron Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 NA NA dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) TTCTGCCTCCGGCTGGATCCC 0.587 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 12169 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 120 101 108 NA NA 12 NA 133295329 2203 4300 6503 SO:0001627 intron_variant BC008196 CCDS9280.1, CCDS53845.1 12q24.33 2011-07-28 ENSG00000247077 ENSG00000247077 192111 28763 protein-coding gene gene with protein product 614939 NA 11283018 Standard NM_138575 NM_001170543 NA Approved MGC5352, BXLBv68 uc009zyv.3 Q96HS1 OTTHUMG00000168021 ENST00000543955.1:c.272+623G>A chr12.hg19:g.133295329G>A NA A9LN06|C9IZY7|Q96JB0 hg19 0.02 23.496401 TCCxGCT COVERED NOVEL PGAM5-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397563.1 5 35.813901 KEEP 0 0 0 119 4096 GG 1 1 0 + 20 60 773 0 0 49.625611 525 60 18290 869 ENST00000543955.1 0.036697 1 PGAM5 192111 __UNKNOWN__ __UNKNOWN__ 12 133295353 133295353 __UNKNOWN__ Intron SNP C C T rs12423651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133295353C>T ENST00000543955.1 + 5 1136 PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000454808.2_Intron|PGAM5_ENST00000541034.1_Intron|PGAM5_ENST00000317555.2_Missense_Mutation_p.P242L|PGAM5_ENST00000498926.2_Intron Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 NA NA dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403) endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GGCAGCATCCCGCCGCTGTTG 0.592 NA C||| 751 0.14996 0.0038 0.1873 5008 , , NA 11453 0.505 NA 0.0527 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 C ,,LEU/PRO 57,4349 55.5+/-91.7 0,57,2146 127 108 114 ,,725 -1 0 12 dbSNP_120 114 283,8317 105.6+/-166.5 5,273,4022 yes intron,intron,missense PGAM5 NM_001170543.1,NM_001170544.1,NM_138575.3 ,,98 5,330,6168 TT,TC,CC 3.2907,1.2937,2.6142 ,,probably-damaging ,,242/256 133295353 340,12666 2203 4300 6503 SO:0001627 intron_variant BC008196 CCDS9280.1, CCDS53845.1 12q24.33 2011-07-28 ENSG00000247077 ENSG00000247077 192111 28763 protein-coding gene gene with protein product 614939 NA 11283018 Standard NM_138575 NM_001170543 NA Approved MGC5352, BXLBv68 uc009zyv.3 Q96HS1 OTTHUMG00000168021 ENST00000543955.1:c.272+647C>T chr12.hg19:g.133295353C>T NA A9LN06|C9IZY7|Q96JB0 hg19 0.02 20.422287 TCCxGCC COVERED 418 0.19139194139194138 3 0.006097560975609756 71 0.19613259668508287 296 0.5174825174825175 48 0.0633245382585752 C 9.305 1.054100 0.19907 0.012937 0.032907 ENSG00000247077 ENST00000317555 . . . 0.5 -1.0 0.10196 . 0.087052 0.47455 N 0.000226 T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 D 0.89917 1.0 D 0.97110 1.0 T 0.46596 -0.9180 6 0.87932 D 0 . . . . rs12423651 242 Q96HS1-2 . L 242 . ENSP00000321503:P242L P + 2 0 PGAM5 131805426 0.001000 0.12720 0.002000 0.10522 0.002000 0.02628 -0.495000 0.06443 -0.434000 0.07275 -0.539000 0.04255 CCG NOVEL PGAM5-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397563.1 4 34.310551 KEEP 0 0 0 114 3984 CC 1 1 0 + 16 60 577 0 0 35.070967 482 60 17193 815 ENST00000543955.1 0.032129 1 ANKLE2 23141 __UNKNOWN__ __UNKNOWN__ 12 133310053 133310053 __UNKNOWN__ Intron SNP C C T rs192607784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133310053C>T ENST00000357997.5 - 10 1981 ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Intron NM_015114.1 NP_055929.1 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 NA NA mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020) protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601) NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2) 45 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TGATATACCCCGTGTGAAGCA 0.577 NA c||| 23 0.00459265 0.0 0.0014 5008 , , NA 26999 0.0169 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014592 CCDS41869.1 12q24.33 2013-01-11 2008-03-25 2008-03-25 ENSG00000176915 ENSG00000176915 23141 Ankyrin repeat domain containing 29101 protein-coding gene gene with protein product LEM domain containing 7 KIAA0692 KIAA0692 NA 9734811 Standard XM_005266159 NA Approved LEMD7, Lem4 uc001ukx.2 Q86XL3 OTTHUMG00000168046 ENST00000357997.5:c.1891+917G>A chr12.hg19:g.133310053C>T NA A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4 hg19 CCDS41869.1 0.02 8.504326 CCCxGTG COVERED NOVEL ANKLE2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397712.1 1 15.349307 KEEP 0 0 0 51 1748 CC 1 1 0 - 9 60 328 0 0 20.745779 213 60 7349 320 ENST00000357997.5 0.040541 1 GOLGA3 2802 __UNKNOWN__ __UNKNOWN__ 12 133398450 133398450 __UNKNOWN__ Intron SNP A A C rs60080792 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133398450A>C ENST00000450791.2 - 1 317 GOLGA3_ENST00000204726.3_Intron|GOLGA3_ENST00000456883.2_Intron|GOLGA3_ENST00000545875.1_Intron|GOLGA3_ENST00000537452.1_Intron Q08378 GOGA3_HUMAN golgin A3 NA NA intra-Golgi vesicle-mediated transport (GO:0006891) cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) transporter activity (GO:0005215) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) aaaaaaaaaaaaaaaaaaaaa 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF485338 CCDS9281.1, CCDS53846.1 12q24.33 2010-02-12 2010-02-12 ENSG00000090615 ENSG00000090615 2802 4426 protein-coding gene gene with protein product SY2/SY10 protein, Golgi complex-associated protein of 170 kD 602581 golgi autoantigen, golgin subfamily a, 3 NA 8315394, 15829563 Standard NM_005895 NM_001172557 NA Approved golgin-160, GCP170, MEA-2 uc001ukz.1 Q08378 OTTHUMG00000168023 ENST00000450791.2:c.133+131T>G chr12.hg19:g.133398450A>C NA A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3 hg19 CCDS9281.1 0.02 6.274609 AAAxAAA COVERED NOVEL GOLGA3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397569.2 3 12.271059 KEEP 0 1 38 54 1644 AA 1 1 0 - 12 60 321 0 0 19.559198 160 60 5552 269 ENST00000450791.2 0.069767 1 ZNF605 100289635 __UNKNOWN__ __UNKNOWN__ 12 133498496 133498496 __UNKNOWN__ 3'UTR SNP C C T rs12772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133498496C>T ENST00000392321.3 - 0 5707 ZNF605_ENST00000360187.4_3'UTR NM_001164715.1 NP_001158187.1 Q86T29 ZN605_HUMAN zinc finger protein 605 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00227)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06) TCGACTTCAACTTAATGCATT 0.443 NA C||| 776 0.154952 0.0552 0.1599 5008 , , NA 19410 0.121 NA 0.2256 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL832623 CCDS31938.1, CCDS53850.1 12q24.33 2013-01-08 2009-09-11 2009-09-11 ENSG00000196458 100289635 Zinc fingers, C2H2-type, - 28068 protein-coding gene gene with protein product NA Standard NM_183238 NM_183238 NA Approved uc001uli.3 Q86T29 ENST00000392321.3:c.*3463G>A chr12.hg19:g.133498496C>T NA B3KVG4|D3DXJ0|Q86T91 hg19 CCDS53850.1 0.02 6.343882 CAAxTTA COVERED NOVEL ZNF605-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397136.1 1 11.136293 KEEP 0 0 0 37 1335 CC 1 1 0 - 6 60 223 0 0 13.518158 190 60 7226 274 ENST00000392321.3 0.030612 1 ZNF26 7574 __UNKNOWN__ __UNKNOWN__ 12 133582197 133582197 __UNKNOWN__ Intron SNP T T A rs116384134 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133582197T>A ENST00000328654.5 + 2 410 ZNF26_ENST00000534834.1_5'UTR|ZNF26_ENST00000537956.1_Intron NM_019591.3 NP_062537.2 P17031 ZNF26_HUMAN zinc finger protein 26 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) autonomic_ganglia(1)|large_intestine(7)|lung(2)|prostate(1)|skin(2) 13 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431) OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05) taaatttatttgttgatggta 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X52351 CCDS31939.1 12q24.33 2013-01-08 2006-05-10 ENSG00000198393 ENSG00000198393 7574 Zinc fingers, C2H2-type, - 13053 protein-coding gene gene with protein product 194537 zinc finger protein 26 (KOX 20) NA Standard NM_019591 NM_001256279 NA Approved KOX20, FLJ20755 uc031qkj.1 P17031 OTTHUMG00000167936 ENST00000328654.5:c.34-1431T>A chr12.hg19:g.133582197T>A NA Q86X57|Q9NWL3 hg19 CCDS31939.1 0.02 2.180221 ATTxGTT COVERED NOVEL ZNF26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397145.2 1 4.511648 KEEP 0 0 0 15 436 TT 0.99649 0.996372 0 + 4 60 151 0 0 9.884526 87 60 3146 116 ENST00000328654.5 0.043956 0.999881 ZNF84 7637 __UNKNOWN__ __UNKNOWN__ 12 133633536 133633536 __UNKNOWN__ Intron SNP A A G rs202097614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133633536A>G ENST00000535439.1 + 4 421 ZNF84_ENST00000392319.2_Intron|ZNF84_ENST00000539354.1_Intron|ZNF84_ENST00000327668.7_Intron|ZNF84_ENST00000543758.1_Intron|ZNF84_ENST00000538726.1_Intron P51523 ZNF84_HUMAN zinc finger protein 84 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) breast(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|prostate(1) 13 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000535)|all_epithelial(31;0.142) OV - Ovarian serous cystadenocarcinoma(86;4.04e-08)|Epithelial(86;7.85e-07)|all cancers(50;2.74e-05) TGTTTCCTTTATAGAAGTCTG 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M27878 CCDS31940.1 12q24.33 2013-01-08 2006-05-12 7637 Zinc fingers, C2H2-type, - 13159 protein-coding gene gene with protein product zinc finger protein 84 (HPF2) NA Standard NM_003428 XM_005266184 NA Approved HPF2 uc009zyz.3 P51523 ENST00000535439.1:c.239-6129A>G chr12.hg19:g.133633536A>G NA B2RAK5|D3DXJ1|Q3ZCV9|Q5D057|Q86XU8|Q9NNX7|Q9UC17|Q9UC18 hg19 0.02 2.241711 TTTxTAG COVERED NOVEL ZNF84-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397164.1 1 4.814079 KEEP 0 0 0 16 497 AA 0.997832 0.997455 0 + 4 60 155 0 0 10.40572 81 60 2803 118 ENST00000535439.1 0.047059 0.999622 ZNF891 101060200 __UNKNOWN__ __UNKNOWN__ 12 133698537 133698537 __UNKNOWN__ 5'UTR SNP G G C rs11615248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr12:133698537G>C ENST00000537226.1 - 0 320 CTD-2140B24.6_ENST00000606110.1_RNA NM_001277291.1 NP_001264220.1 A8MT65 ZN891_HUMAN zinc finger protein 891 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1) 1 CAGTAGAGTAGAGAGATCAGG 0.463 NA G||| 747 0.149161 0.0091 0.1614 5008 , , NA 20464 0.122 NA 0.2455 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS59238.1 12q24.33 2014-01-23 ENSG00000214029 ENSG00000214029 101060200 Zinc fingers, C2H2-type, - 38709 protein-coding gene gene with protein product NA Standard NM_001277291 NA Approved uc031qkm.1 A8MT65 OTTHUMG00000167943 ENST00000537226.1:c.-33C>G chr12.hg19:g.133698537G>C NA hg19 CCDS59238.1 0.02 6.510453 GTAxAGA COVERED NOVEL ZNF891-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397179.1 2 13.528668 KEEP 0 0 0 45 1547 GG 1 1 0 - 6 60 225 0 0 14.002225 170 60 6492 257 ENST00000537226.1 0.034091 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19385612 19385612 __UNKNOWN__ IGR SNP G G A rs199805857 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19385612G>A NA NA LINC00418 (91743 upstream) : RP11-38M15.11 (48354 downstream) NA NA NA gaacaaagaagagaataagaa 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19385612G>A NA hg19 0.02 9.038343 GAAxAGA COVERED NOVEL 0 15 15.687807 KEEP 30 1 34 64 2349 GG 1 1 0 11 45 409 0 0 27.231588 207 50 8125 491 0.050459 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19385645 19385645 __UNKNOWN__ IGR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19385645T>A NA NA LINC00418 (91776 upstream) : RP11-38M15.11 (48321 downstream) NA NA NA gcaaccatcatagtaataatt 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19385645T>A NA hg19 0.02 8.601051 TCAxAGT COVERED NOVEL 0 15 4.245751 KEEP 21 4 119 56 1752 TT 1 1 0 14 23 507 0 0 35.018284 197 50 7170 376 0.066351 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19385656 19385656 __UNKNOWN__ IGR SNP G G T rs4272882 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19385656G>T NA NA LINC00418 (91787 upstream) : RP11-38M15.11 (48310 downstream) NA NA NA agtaataattgttcaaacaca 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19385656G>T NA hg19 0.02 7.417937 ATTxTTC COVERED NOVEL 0 9 7.19358 KEEP 26 2 66 47 1630 GG 1 1 0 18 45 687 0 0 52.063987 158 50 5937 303 0.102273 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19386250 19386250 __UNKNOWN__ IGR SNP C C T rs141064721 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19386250C>T NA NA LINC00418 (92381 upstream) : RP11-38M15.11 (47716 downstream) NA NA NA GTGTCCAACACAGCAACAGCT 0.308 NA .||| 343 0.0684904 0.0151 0.0533 5008 , , NA 14827 0.0883 NA 0.0974 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19386250C>T NA hg19 0.02 2.431235 ACAxAGC UNCOVERED NOVEL 0 1 3.611721 KEEP 40 0 0 12 425 CC 0 0 0 4 60 151 0 0 11.068183 43 60 1674 114 0.085106 0.967425 TUBA3C 7278 __UNKNOWN__ __UNKNOWN__ 13 19751544 19751544 __UNKNOWN__ Silent SNP C C T rs2297224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19751544C>T ENST00000400113.3 - 4 683 c.579G>A c.(577-579)acG>acA p.T193T NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 193 NA 'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GTTCCAGGGTCGTGTGGGTGG 0.552 NA C||| 1446 0.288738 0.2171 0.2824 5008 , , NA 20432 0.3671 NA 0.2674 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 C 895,3511 345.7+/-308.6 108,679,1416 149 146 147 579 -1 1 13 dbSNP_100 147 2078,6518 360.1+/-331.8 261,1556,2481 no coding-synonymous TUBA3C NM_006001.2 369,2235,3897 TT,TC,CC 24.174,20.3132,22.8657 193/451 19751544 2973,10029 2203 4298 6501 SO:0001819 synonymous_variant AF005392 CCDS9284.1 13q12.11 2007-06-20 2007-02-12 2007-02-12 ENSG00000198033 ENSG00000198033 7278 Tubulins 12408 protein-coding gene gene with protein product 602528 tubulin, alpha 2 TUBA2 NA 9465305 Standard NM_006001 NM_006001 NA Approved bA408E5.3 uc009zzj.3 Q13748 OTTHUMG00000016481 ENST00000400113.3:c.579G>A chr13.hg19:g.19751544C>T NA A6NJQ0|Q5W099|Q6PEY3|Q96F18 hg19 CCDS9284.1 0.02 1.875722 GGTxGTG COVERED NOVEL TUBA3C-002 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044007.2 1 3.310478 KEEP 0 0 0 11 365 CC 0.993072 0.989819 0 - 4 60 144 0 0 9.656675 66 60 2179 89 ENST00000400113.3 0.057143 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19775753 19775753 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19775753G>A NA NA RP11-408E5.4 (14257 upstream) : RP11-408E5.5 (61183 downstream) NA NA NA TTTTTTTTCTGGATAGCCAGG 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19775753G>A NA hg19 0.02 25.314263 TCTxGAT COVERED NOVEL 0 5 8.096617 KEEP 3 2 63 49 1754 GG 1 1 0 17 39 644 0 0 39.563564 535 60 20256 758 0.030797 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19778601 19778601 __UNKNOWN__ IGR SNP G G A rs141790008 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19778601G>A NA NA RP11-408E5.4 (17105 upstream) : RP11-408E5.5 (58335 downstream) NA NA NA ATTCATACCCGTCATTGGAGG 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19778601G>A NA hg19 0.02 4.583858 CCCxTCA COVERED NOVEL 0 3 2.708806 KEEP 23 0 0 9 318 GG 0.99254 0.992536 0 48 40 1729 1 0 162.340819 65 50 2345 175 0.424779 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 19801420 19801420 __UNKNOWN__ IGR SNP C C T rs9551255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:19801420C>T NA NA RP11-408E5.4 (39924 upstream) : RP11-408E5.5 (35516 downstream) NA NA NA GTGTTCATGCCTAGCTGCTTC 0.403 NA C||| 1252 0.25 0.1089 0.2637 5008 , , NA 20527 0.3065 NA 0.2863 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.19801420C>T NA hg19 0.02 7.859754 TGCxTAG COVERED NOVEL 0 1 8.126481 KEEP 10 0 0 27 958 CC 0.999957 0.999957 0 8 60 288 0 0 17.2493 242 60 9188 375 0.032 1 MICU2 221154 __UNKNOWN__ __UNKNOWN__ 13 22105506 22105506 __UNKNOWN__ Intron SNP T T A rs12585631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:22105506T>A ENST00000382374.4 - 4 532 NM_152726.2 NP_689939.1 Q8IYU8 MICU2_HUMAN mitochondrial calcium uptake 2 NA NA mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561) calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246) calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982) NA TTATTTTTTATTAAGGGACCC 0.408 NA T||| 1442 0.287939 0.059 0.3357 5008 , , NA 19481 0.3036 NA 0.4215 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091907 CCDS9297.1 13q12.11 2013-03-13 2013-03-13 2013-03-13 ENSG00000165487 ENSG00000165487 221154 EF-hand domain containing 31830 protein-coding gene gene with protein product 610632 EF hand domain family A1, EF-hand domain family, member A1 EFHA1 NA 23409044 Standard NM_152726 NM_152726 NA Approved uc001uof.3 Q8IYU8 OTTHUMG00000067414 ENST00000382374.4:c.466+7934A>T chr13.hg19:g.22105506T>A NA Q8N0T6|Q8NAX8 hg19 CCDS9297.1 0.02 11.1147 TTAxTAA COVERED NOVEL MICU2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000144355.1 0 5.685608 KEEP 0 2 63 41 1305 TT 1 1 0 - 12 60 435 0 0 28.015633 253 60 9271 371 ENST00000382374.4 0.045283 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 23406347 23406347 __UNKNOWN__ IGR SNP G G A rs9506940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:23406347G>A NA NA SNORD36 (28984 upstream) : RP11-363G2.4 (19564 downstream) NA NA NA TAAATATCACGTATAAAAATT 0.308 NA G||| 1244 0.248403 0.0991 0.1816 5008 , , NA 17443 0.5079 NA 0.1978 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.23406347G>A NA hg19 0.02 4.188088 CACxTAT COVERED NOVEL 0 0 2.406701 KEEP 0 0 0 8 241 GG 0.99257 0.99257 0 9 60 334 0 0 23.681962 115 60 3686 132 0.072581 0.999999 RP11-363G2.4 0 __UNKNOWN__ __UNKNOWN__ 13 23426843 23426843 __UNKNOWN__ lincRNA SNP T T A rs9552735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:23426843T>A ENST00000445646.2 + 0 608 NA NA NA CTTATATTAATGGCTATGGCA 0.308 NA A||| 2567 0.51258 0.3472 0.4942 5008 , , NA 14046 0.7183 NA 0.5219 False NA ,,, NA NA NA 2504 0.5276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000445646.2: chr13.hg19:g.23426843T>A NA hg19 0.02 10.811641 TAAxGGC COVERED NOVEL RP11-363G2.4-001 KNOWN not_best_in_genome_evidence|basic lincRNA NA lincRNA OTTHUMT00000044141.2 1 7.521889 KEEP 0 0 0 25 759 TT 0.999931 0.999931 0 + 8 60 294 0 0 17.792051 246 60 9187 332 ENST00000445646.2 0.031496 1 TNFRSF19 55504 __UNKNOWN__ __UNKNOWN__ 13 24167480 24167480 __UNKNOWN__ Intron SNP T T C rs12583417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24167480T>C ENST00000382263.3 + 3 253 TNFRSF19_ENST00000403372.2_Intron|TNFRSF19_ENST00000248484.4_Intron|TNFRSF19_ENST00000464735.1_Intron|TNFRSF19_ENST00000382258.4_Intron NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 NA NA apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209) integral component of membrane (GO:0016021) tumor necrosis factor-activated receptor activity (GO:0005031) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) ATTTTTTTTTTCAGTCATGTA 0.353 NA T||| 609 0.121605 0.0083 0.0519 5008 , , NA 19016 0.3125 NA 0.0924 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 T ,,, 61,4345 1,59,2143 66 72 70 ,,, -9.4 0 13 dbSNP_120 70 522,8078 35,452,3813 no intron,intron,intron,intron TNFRSF19 NM_001204458.1,NM_001204459.1,NM_018647.3,NM_148957.3 ,,, 36,511,5956 CC,CT,TT 6.0698,1.3845,4.4825 ,,, ,,, 24167480 583,12423 2203 4300 6503 SO:0001627 intron_variant AB040434 CCDS9301.1, CCDS9302.1, CCDS55893.1 13q12.11-q12.3 2008-07-18 ENSG00000127863 ENSG00000127863 55504 Tumor necrosis factor receptor superfamily 11915 protein-coding gene gene with protein product toxicity and JNK inducer 606122 NA 10764796, 10809768 Standard NM_018647 NM_018647 NA Approved TAJ-alpha, TROY, TAJ, TRADE uc001uov.2 Q9NS68 OTTHUMG00000016568 ENST00000382263.3:c.70-4T>C chr13.hg19:g.24167480T>C NA A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2 hg19 CCDS9301.1 0.02 9.032996 TTTxCAG COVERED NOVEL TNFRSF19-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044157.2 1 10.828691 KEEP 0 0 0 36 1069 TT 0.999999 0.999999 0 + 13 60 480 0 0 32.507605 217 60 7709 301 ENST00000382263.3 0.056522 1 TNFRSF19 55504 __UNKNOWN__ __UNKNOWN__ 13 24247858 24247858 __UNKNOWN__ 3'UTR SNP A A G rs17079157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24247858A>G ENST00000382263.3 + 0 1777 TNFRSF19_ENST00000248484.4_3'UTR NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 NA NA apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209) integral component of membrane (GO:0016021) tumor necrosis factor-activated receptor activity (GO:0005031) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) AGAAACAGAAATGCCCTCATG 0.393 NA A||| 227 0.0453275 0.0015 0.0029 5008 , , NA 19572 0.2034 NA 0.0 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040434 CCDS9301.1, CCDS9302.1, CCDS55893.1 13q12.11-q12.3 2008-07-18 ENSG00000127863 ENSG00000127863 55504 Tumor necrosis factor receptor superfamily 11915 protein-coding gene gene with protein product toxicity and JNK inducer 606122 NA 10764796, 10809768 Standard NM_018647 NM_018647 NA Approved TAJ-alpha, TROY, TAJ, TRADE uc001uov.2 Q9NS68 OTTHUMG00000016568 ENST00000382263.3:c.*339A>G chr13.hg19:g.24247858A>G NA A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2 hg19 CCDS9301.1 0.02 8.574744 GAAxTGC COVERED NOVEL TNFRSF19-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044157.2 1 14.444312 KEEP 0 0 0 48 1540 AA 1 1 0 + 7 60 265 0 0 16.458399 207 60 7485 325 ENST00000382263.3 0.03271 1 TNFRSF19 55504 __UNKNOWN__ __UNKNOWN__ 13 24249847 24249847 __UNKNOWN__ 3'UTR SNP T T C rs1630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24249847T>C ENST00000382263.3 + 0 3766 NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 NA NA apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209) integral component of membrane (GO:0016021) tumor necrosis factor-activated receptor activity (GO:0005031) breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) AGGAGGGCTGTGTCGGGTAAT 0.463 NA C||| 1282 0.25599 0.2769 0.2781 5008 , , NA 17523 0.256 NA 0.3141 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040434 CCDS9301.1, CCDS9302.1, CCDS55893.1 13q12.11-q12.3 2008-07-18 ENSG00000127863 ENSG00000127863 55504 Tumor necrosis factor receptor superfamily 11915 protein-coding gene gene with protein product toxicity and JNK inducer 606122 NA 10764796, 10809768 Standard NM_018647 NM_018647 NA Approved TAJ-alpha, TROY, TAJ, TRADE uc001uov.2 Q9NS68 OTTHUMG00000016568 ENST00000382263.3:c.*2328T>C chr13.hg19:g.24249847T>C NA A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2 hg19 CCDS9301.1 0.02 6.727878 CTGxGTC COVERED NOVEL TNFRSF19-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044157.2 1 4.984597 KEEP 0 2 67 40 1258 TT 1 1 0 + 7 60 247 0 0 15.285508 168 60 6067 272 ENST00000382263.3 0.04 1 MIPEP 4285 __UNKNOWN__ __UNKNOWN__ 13 24321711 24321711 __UNKNOWN__ Intron SNP T T C rs12866705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24321711T>C ENST00000382172.3 - 18 2143 NM_005932.3 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase NA NA protein processing involved in protein targeting to mitochondrion (GO:0006627) mitochondrion (GO:0005739) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) GCTGAGAGACTGAACAAGTGT 0.378 NA T||| 593 0.118411 0.0431 0.1268 5008 , , NA 19319 0.129 NA 0.2406 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 T 126,1626 7,112,757 28 26 26 -1.3 0 13 dbSNP_121 26 960,3022 112,736,1143 no intron MIPEP NM_005932.3 119,848,1900 CC,CT,TT 24.1085,7.1918,18.9397 24321711 1086,4648 876 1991 2867 SO:0001627 intron_variant CCDS9303.1 13q12 2011-01-17 ENSG00000027001 ENSG00000027001 4285 3.4.24.59 7104 protein-coding gene gene with protein product 602241 NA 9073519 Standard NM_005932 NA Approved MIP uc001uox.4 Q99797 OTTHUMG00000016573 ENST00000382172.3:c.2044+8972A>G chr13.hg19:g.24321711T>C NA Q5JV15|Q5T9Q9|Q96G65 hg19 CCDS9303.1 0.02 3.628258 GACxGAA COVERED NOVEL MIPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044169.1 0 5.449355 KEEP 0 1 31 29 911 TT 0.999997 0.999997 0 - 5 60 171 0 0 10.27139 126 60 4706 204 ENST00000382172.3 0.038168 1 C1QTNF9B-AS1 542767 __UNKNOWN__ __UNKNOWN__ 13 24464901 24464901 __UNKNOWN__ RNA SNP A A G rs4076202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24464901A>G ENST00000382133.4 + 0 166 C1QTNF9B-AS1_ENST00000435039.2_RNA Q58A44 PCOTH_HUMAN C1QTNF9B antisense RNA 1 NA NA cytoplasm (GO:0005737) NA aaaccaccacagcacattttt 0.393 NA A||| 1123 0.224241 0.0295 0.2968 5008 , , NA 19243 0.4613 NA 0.2922 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 13q12.12 2012-10-12 2012-08-15 ENSG00000205861 ENSG00000205861 542767 Long non-coding RNAs 39839 non-coding RNA RNA, long non-coding prostate collagen triple helix C1QTNF9B antisense RNA 1 (non-protein coding) NA 15930275 Standard NM_001135816 NA Approved PCOTH uc009zzx.3 Q58A44 OTTHUMG00000016571 ENST00000382133.4: chr13.hg19:g.24464901A>G NA hg19 0.02 1.494673 CACxGCA COVERED NOVEL C1QTNF9B-AS1-002 KNOWN basic antisense NA antisense OTTHUMT00000044166.1 0 2.40622 KEEP 0 0 0 8 235 AA 0.99257 0.988289 0 + 6 60 166 0 0 10.860929 62 60 2254 77 ENST00000382133.4 0.088235 0.995687 C1QTNF9B 387911 __UNKNOWN__ __UNKNOWN__ 13 24465307 24465307 __UNKNOWN__ 3'UTR SNP G G A rs3814794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24465307G>A ENST00000382145.1 - 0 818 C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B NA NA collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TAACTTTTCCGTTTTCACCTT 0.294 NA G||| 1119 0.223442 0.0295 0.2954 5008 , , NA 17869 0.4583 NA 0.2922 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC110413 CCDS31947.1 13q12.12 2011-05-08 ENSG00000205863 ENSG00000205863 387911 34072 protein-coding gene gene with protein product 614148 NA 17544811 Standard NM_001007537 NM_001007537 NA Approved CTRP9B uc010tcv.1 B2RNN3 OTTHUMG00000016570 ENST00000382145.1:c.*309C>T chr13.hg19:g.24465307G>A NA A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4 hg19 0.02 16.944339 TCCxTTT COVERED NOVEL C1QTNF9B-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000044164.1 2 15.649991 KEEP 1 0 0 52 1779 GG 1 1 0 - 17 50 598 0 0 37.53506 389 60 13269 522 ENST00000382145.1 0.041872 1 C1QTNF9B 387911 __UNKNOWN__ __UNKNOWN__ 13 24471048 24471048 __UNKNOWN__ Silent SNP C C T rs35159134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24471048C>T ENST00000382140.2 - 3 138 c.78G>A c.(76-78)ggG>ggA p.G26G C1QTNF9B_ENST00000382137.3_Silent_p.G26G|C1QTNF9B_ENST00000382057.3_Silent_p.G26G|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382145.1_Silent_p.G26G B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 26 Collagen-like 1. NA collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TTCCAGGGTGCCCTTGCCTGC 0.547 NA C||| 1054 0.210463 0.025 0.2637 5008 , , NA 22510 0.4752 NA 0.2495 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 107 103 105 NA NA 13 NA 24471048 2202 4281 6483 SO:0001819 synonymous_variant BC110413 CCDS31947.1 13q12.12 2011-05-08 ENSG00000205863 ENSG00000205863 387911 34072 protein-coding gene gene with protein product 614148 NA 17544811 Standard NM_001007537 NM_001007537 NA Approved CTRP9B uc010tcv.1 B2RNN3 OTTHUMG00000016570 ENST00000382140.2:c.78G>A chr13.hg19:g.24471048C>T NA A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4 hg19 CCDS31947.1 0.02 17.03962 GTGxCCT COVERED NOVEL C1QTNF9B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044162.3 2 20.069069 KEEP 139 3 95 100 3527 CC 1 1 0 - 15 49 515 0 0 29.468412 482 60 17589 817 ENST00000382140.2 0.030181 1 RP11-307N16.6 0 __UNKNOWN__ __UNKNOWN__ 13 24696665 24696665 __UNKNOWN__ Intron SNP T T C rs4770592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24696665T>C ENST00000382141.4 + 4 467 SPATA13_ENST00000424834.2_Intron NA NA NA CACTCCCCGGTTCCTCTGGTC 0.478 NA T||| 1250 0.249601 0.3336 0.1902 5008 , , NA 20822 0.3938 NA 0.0845 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000382141.4:c.-111-100292T>C chr13.hg19:g.24696665T>C NA hg19 0.02 9.378469 CGGxTCC COVERED NOVEL RP11-307N16.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000472022.1 0 13.841367 KEEP 0 0 0 46 1436 TT 1 1 0 + 7 60 272 0 0 17.335303 195 60 6967 303 ENST00000382141.4 0.034653 1 RP11-307N16.6 0 __UNKNOWN__ __UNKNOWN__ 13 24696684 24696684 __UNKNOWN__ Intron SNP G G A rs4770593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24696684G>A ENST00000382141.4 + 4 467 SPATA13_ENST00000424834.2_Intron NA NA NA TCAGTGCCACGCCCTTTGCAC 0.463 NA G||| 1255 0.250599 0.3374 0.1902 5008 , , NA 21573 0.3938 NA 0.0845 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000382141.4:c.-111-100273G>A chr13.hg19:g.24696684G>A NA hg19 0.02 6.387803 CACxCCC COVERED NOVEL RP11-307N16.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000472022.1 0 12.641333 KEEP 0 0 0 42 1490 GG 1 1 0 + 6 60 224 0 0 13.686657 185 60 6662 289 ENST00000382141.4 0.031414 1 C1QTNF9 338872 __UNKNOWN__ __UNKNOWN__ 13 24896527 24896527 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:24896527C>T ENST00000382071.2 + 0 1708 C1QTNF9_ENST00000332018.4_3'UTR P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 NA NA collagen trimer (GO:0005581)|extracellular region (GO:0005576) endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) ctccctcccACTTTGCTCATT 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040438 CCDS9306.1 13q12.12 2010-08-18 ENSG00000240654 ENSG00000240654 338872 28732 protein-coding gene gene with protein product 614285 NA 12975309, 18787108 Standard NM_178540 NM_178540 NA Approved MGC48915, CTRP9, C1QTNF9A, AQL1 uc001upj.3 P0C862 OTTHUMG00000016576 ENST00000382071.2:c.*621C>T chr13.hg19:g.24896527C>T NA A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4 hg19 CCDS9306.1 0.02 2.238226 CCAxTTT COVERED NOVEL C1QTNF9-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044177.1 5 3.611804 KEEP 0 0 0 12 432 CC 0.993634 0.991846 0 + 10 60 364 0 0 28.638543 61 60 2351 104 ENST00000382071.2 0.140845 0.9982 PARP4 143 __UNKNOWN__ __UNKNOWN__ 13 25078073 25078073 __UNKNOWN__ Intron SNP C C G rs2012359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25078073C>G ENST00000381989.3 - 2 105 NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 NA NA cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876) DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GAATAATATCCTAGCTTGCAA 0.313 NA c||| 1114 0.222444 0.2262 0.2738 5008 , , NA 18812 0.3185 NA 0.1252 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF057160 CCDS9307.1 13q11 2010-09-29 2004-08-20 2004-08-26 ENSG00000102699 ENSG00000102699 143 Poly (ADP-ribose) polymerases 271 protein-coding gene gene with protein product von Willebrand factor A domain containing 5C 607519 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1 ADPRTL1 NA 10644454 Standard NM_006437 NM_006437 NA Approved VAULT3, p193, VPARP, VWA5C uc001upl.3 Q9UKK3 OTTHUMG00000016582 ENST00000381989.3:c.1-158G>C chr13.hg19:g.25078073C>G NA O75903|Q14682|Q5QNZ9|Q9H1M6 hg19 CCDS9307.1 0.02 10.471419 ATCxTAG COVERED NOVEL PARP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044189.1 0 6.019434 KEEP 0 0 0 20 710 CC 0.999863 0.999863 0 - 11 60 389 0 0 24.192746 259 60 9870 297 ENST00000381989.3 0.040741 1 RNF17 56163 __UNKNOWN__ __UNKNOWN__ 13 25378476 25378476 __UNKNOWN__ Intron SNP A A G rs9511451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25378476A>G ENST00000255325.6 + 14 1952 RNF17_ENST00000381921.1_Missense_Mutation_p.H667R|RNF17_ENST00000255324.5_Missense_Mutation_p.H667R Q9BXT8 RNF17_HUMAN ring finger protein 17 NA NA multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACTACTTTACACTATCATCCA 0.348 NA A||| 1064 0.21246 0.0847 0.2219 5008 , , NA 20210 0.3244 NA 0.2913 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 A ARG/HIS,ARG/HIS 526,3874 239.0+/-250.2 34,458,1708 92 91 91 2000,2000 0.3 0.1 13 dbSNP_119 91 2517,6083 409.5+/-349.8 346,1825,2129 yes missense,missense RNF17 NM_001184993.1,NM_031277.2 29,29 380,2283,3837 GG,GA,AA 29.2674,11.9545,23.4077 benign,benign 667/1620,667/1624 25378476 3043,9957 2200 4300 6500 SO:0001627 intron_variant AF285602, AK001907 CCDS9308.2 13q12.13 2013-01-23 ENSG00000132972 ENSG00000132972 56163 RING-type (C3HC4) zinc fingers, Tudor domain containing 10060 protein-coding gene gene with protein product spermatogenesis associated 23 605793 tudor domain containing 4 TDRD4 NA 11279525 Standard NM_031994 NM_001184993 NA Approved Mmip-2, SPATA23, FLJ11045 uc001upr.3 Q9BXT8 OTTHUMG00000016589 ENST00000255325.6:c.1949+1767A>G chr13.hg19:g.25378476A>G NA Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9 hg19 0.02 19.065924 TACxCTA COVERED 493 0.22573260073260074 40 0.08130081300813008 82 0.2265193370165746 155 0.270979020979021 216 0.2849604221635884 A 0.018 -1.480284 0.01027 0.119545 0.292674 ENSG00000132972 ENST00000255324;ENST00000381921;ENST00000429047 T;T 0.20069 2.1;2.1 5.5 0.308 0.15815 . 1.211800 0.05578 N 0.572397 T 0.00012 0.0000 N 0.16478 0.41 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.43782 -0.9370 9 0.11485 T 0.65 . 5.0512 0.14508 0.3981:0.1682:0.4338:0.0 rs9511451;rs9511451 667;667 B7Z7S1;Q9BXT8 .;RNF17_HUMAN R 667;667;526 ENSP00000255324:H667R;ENSP00000371346:H667R ENSP00000255324:H667R H + 2 0 RNF17 24276476 0.001000 0.12720 0.054000 0.19295 0.249000 0.25844 0.214000 0.17541 0.061000 0.16311 0.482000 0.46254 CAC NOVEL RNF17-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276093.2 2 12.034695 KEEP 0 0 0 40 1229 AA 1 1 0 + 15 60 541 0 0 33.456216 388 60 14280 585 ENST00000255325.6 0.037221 1 RNF17 56163 __UNKNOWN__ __UNKNOWN__ 13 25418996 25418996 __UNKNOWN__ Intron SNP T T G rs9511472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25418996T>G ENST00000255324.5 + 21 3034 RNF17_ENST00000381921.1_Intron|RNF17_ENST00000339524.3_Intron NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 NA NA multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ATTTTGTATTTTTTTCCCTGG 0.313 NA T||| 1063 0.21226 0.0847 0.2205 5008 , , NA 17584 0.3254 NA 0.2903 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285602, AK001907 CCDS9308.2 13q12.13 2013-01-23 ENSG00000132972 ENSG00000132972 56163 RING-type (C3HC4) zinc fingers, Tudor domain containing 10060 protein-coding gene gene with protein product spermatogenesis associated 23 605793 tudor domain containing 4 TDRD4 NA 11279525 Standard NM_031994 NM_001184993 NA Approved Mmip-2, SPATA23, FLJ11045 uc001upr.3 Q9BXT8 OTTHUMG00000016589 ENST00000255324.5:c.2982+56T>G chr13.hg19:g.25418996T>G NA Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9 hg19 CCDS9308.2 0.02 13.12844 ATTxTTT COVERED NOVEL RNF17-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044217.1 1 7.822724 KEEP 0 0 0 26 800 TT 0.999957 0.999957 0 + 16 60 598 0 0 39.92027 301 60 10859 378 ENST00000255324.5 0.050473 1 RNF17 56163 __UNKNOWN__ __UNKNOWN__ 13 25440318 25440318 __UNKNOWN__ Missense_Mutation SNP G G A rs9507425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25440318G>A ENST00000255324.5 + 30 4190 c.4138G>A c.(4138-4140)Gaa>Aaa p.E1380K RNF17_ENST00000381921.1_Missense_Mutation_p.E1338K|RNF17_ENST00000339524.3_Missense_Mutation_p.E390K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1380 NA E -> K (in dbSNP:rs9507425). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GTATGAAGAGGAACAATGGGA 0.313 NA G||| 1062 0.212061 0.0847 0.2205 5008 , , NA 17485 0.3254 NA 0.2903 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 G LYS/GLU,LYS/GLU 539,3867 240.3+/-251.1 35,469,1699 108 107 107 4126,4138 3.9 0.3 13 dbSNP_119 107 2506,6088 405.8+/-348.6 345,1816,2136 yes missense,missense RNF17 NM_001184993.1,NM_031277.2 56,56 380,2285,3835 AA,AG,GG 29.1599,12.2333,23.4231 benign,benign 1376/1620,1380/1624 25440318 3045,9955 2203 4297 6500 SO:0001583 missense AF285602, AK001907 CCDS9308.2 13q12.13 2013-01-23 ENSG00000132972 ENSG00000132972 56163 RING-type (C3HC4) zinc fingers, Tudor domain containing 10060 protein-coding gene gene with protein product spermatogenesis associated 23 605793 tudor domain containing 4 TDRD4 NA 11279525 Standard NM_031994 NM_001184993 NA Approved Mmip-2, SPATA23, FLJ11045 uc001upr.3 Q9BXT8 OTTHUMG00000016589 ENST00000255324.5:c.4138G>A chr13.hg19:g.25440318G>A ENSP00000255324:p.Glu1380Lys NA Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9 hg19 CCDS9308.2 0.02 1.707433 GAGxAAC COVERED 489 0.2239010989010989 37 0.07520325203252033 82 0.2265193370165746 155 0.270979020979021 215 0.2836411609498681 G 9.703 1.155106 0.21371 0.122333 0.291599 ENSG00000132972 ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524 T;T;T;T 0.23552 3.52;3.41;2.73;1.9 4.74 3.9 0.45041 . 0.094831 0.46442 D 0.000286 T 0.00012 0.0000 L 0.41236 1.265 0.25451 P 0.988003 B;B;B;B 0.09022 0.001;0.0;0.0;0.002 B;B;B;B 0.09377 0.003;0.0;0.004;0.003 T 0.34354 -0.9832 9 0.07644 T 0.81 -20.6408 9.2271 0.37414 0.0994:0.0:0.9006:0.0 rs9507425;rs17480121;rs52806297;rs59442158;rs9507425 1376;390;1374;1380 B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8 .;.;.;RNF17_HUMAN K 1380;1338;704;390 ENSP00000255324:E1380K;ENSP00000371346:E1338K;ENSP00000388892:E704K;ENSP00000344776:E390K ENSP00000255324:E1380K E + 1 0 RNF17 24338318 0.968000 0.33430 0.343000 0.25615 0.557000 0.35523 3.135000 0.50546 1.367000 0.46095 -0.254000 0.11334 GAA NOVEL RNF17-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044217.1 0 5.417649 KEEP 0 0 0 18 633 GG 0.999859 0.999663 0 + 9 60 320 0 0 23.636264 80 60 2969 125 ENST00000255324.5 0.101124 0.999804 RNF17 56163 __UNKNOWN__ __UNKNOWN__ 13 25451097 25451097 __UNKNOWN__ Intron SNP G G A rs9553460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25451097G>A ENST00000255324.5 + 34 4635 RNF17_ENST00000381921.1_Intron|RNF17_ENST00000339524.3_Intron NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 NA NA multicellular organismal development (GO:0007275)|spermatid development (GO:0007286) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) agtttcagCCGGAAGAGAATT 0.388 NA G||| 1054 0.210463 0.084 0.219 5008 , , NA 18734 0.3194 NA 0.2903 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 G , 531,3875 35,461,1707 33 38 37 , -4.8 0 13 dbSNP_119 37 2512,6086 349,1814,2136 no intron,intron RNF17 NM_001184993.1,NM_031277.2 , 384,2275,3843 AA,AG,GG 29.2161,12.0517,23.4005 , , 25451097 3043,9961 2203 4299 6502 SO:0001627 intron_variant AF285602, AK001907 CCDS9308.2 13q12.13 2013-01-23 ENSG00000132972 ENSG00000132972 56163 RING-type (C3HC4) zinc fingers, Tudor domain containing 10060 protein-coding gene gene with protein product spermatogenesis associated 23 605793 tudor domain containing 4 TDRD4 NA 11279525 Standard NM_031994 NM_001184993 NA Approved Mmip-2, SPATA23, FLJ11045 uc001upr.3 Q9BXT8 OTTHUMG00000016589 ENST00000255324.5:c.4584-38G>A chr13.hg19:g.25451097G>A NA Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9 hg19 CCDS9308.2 0.02 8.660425 GCCxGAA COVERED NOVEL RNF17-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044217.1 3 8.124304 KEEP 0 0 0 27 880 GG 0.999988 0.999988 0 + 8 60 291 0 0 17.890122 219 60 7277 294 ENST00000255324.5 0.035242 1 CENPJ 55835 __UNKNOWN__ __UNKNOWN__ 13 25482092 25482092 __UNKNOWN__ Intron SNP T T A rs2122883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25482092T>A ENST00000381884.4 - 5 1160 CENPJ_ENST00000545981.1_Intron NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J NA NA cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874) protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631) endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AAGAAAGTGTTCAATAATAAA 0.308 NA T||| 777 0.155152 0.0794 0.1628 5008 , , NA 15997 0.3462 NA 0.1382 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF139625 CCDS9310.1 13q12.12 2013-11-05 ENSG00000151849 ENSG00000151849 55835 17272 protein-coding gene gene with protein product centrosomal P4.1-associated protein 609279 microcephaly, primary autosomal recessive 6 MCPH6 NA 11003675, 22699936 Standard NM_018451 NM_018451 NA Approved CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4 uc001upt.5 Q9HC77 OTTHUMG00000016595 ENST00000381884.4:c.974+63A>T chr13.hg19:g.25482092T>A NA Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067 hg19 CCDS9310.1 0.02 6.439419 TGTxCAA COVERED NOVEL CENPJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044209.1 0 7.219911 KEEP 0 0 0 24 706 TT 0.999909 0.999909 0 - 8 60 272 0 0 17.447927 143 60 5091 191 ENST00000381884.4 0.05298 1 CENPJ 55835 __UNKNOWN__ __UNKNOWN__ 13 25487103 25487103 __UNKNOWN__ Missense_Mutation SNP T T C rs35498994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25487103T>C ENST00000381884.4 - 2 246 c.61A>G c.(61-63)Atg>Gtg p.M21V CENPJ_ENST00000545981.1_Missense_Mutation_p.M21V NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 21 NA M -> V (in dbSNP:rs35498994). cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874) protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631) endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GGATTGGTCATCCACTGGGTT 0.433 NA T||| 777 0.155152 0.0794 0.1628 5008 , , NA 18447 0.3462 NA 0.1382 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 T VAL/MET 422,3984 207.8+/-229.1 25,372,1806 65 57 60 61 5.3 1 13 dbSNP_126 60 1162,7438 232.8+/-266.3 83,996,3221 yes missense CENPJ NM_018451.3 21 108,1368,5027 CC,CT,TT 13.5116,9.5778,12.179 possibly-damaging 21/1339 25487103 1584,11422 2203 4300 6503 SO:0001583 missense AF139625 CCDS9310.1 13q12.12 2013-11-05 ENSG00000151849 ENSG00000151849 55835 17272 protein-coding gene gene with protein product centrosomal P4.1-associated protein 609279 microcephaly, primary autosomal recessive 6 MCPH6 NA 11003675, 22699936 Standard NM_018451 NM_018451 NA Approved CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4 uc001upt.5 Q9HC77 OTTHUMG00000016595 ENST00000381884.4:c.61A>G chr13.hg19:g.25487103T>C ENSP00000371308:p.Met21Val NA Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067 hg19 CCDS9310.1 0.02 17.789381 TCAxCCA COVERED 390 0.17857142857142858 40 0.08130081300813008 50 0.13812154696132597 190 0.3321678321678322 110 0.14511873350923482 T 19.04 3.750856 0.69533 0.095778 0.135116 ENSG00000151849 ENST00000381884;ENST00000545981;ENST00000445729 T;T 0.16743 2.32;2.32 5.28 5.28 0.74379 . 0.064543 0.64402 D 0.000004 T 0.00012 0.0000 M 0.78637 2.42 0.37049 P 0.10248000000000002 P 0.43431 0.807 B 0.35182 0.197 T 0.40850 -0.9541 9 0.87932 D 0 . 12.7331 0.57208 0.0:0.0:0.0:1.0 rs35498994;rs59706954 21 Q9HC77 CENPJ_HUMAN V 21 ENSP00000371308:M21V;ENSP00000441090:M21V ENSP00000371308:M21V M - 1 0 CENPJ 24385103 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 2.631000 0.46502 2.006000 0.58801 0.533000 0.62120 ATG NOVEL CENPJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044209.1 1 5.45897 KEEP 0 4 152 71 2218 TT 1 1 0 - 18 60 669 0 0 43.384059 394 60 14380 596 ENST00000381884.4 0.043689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 25562829 25562829 __UNKNOWN__ IGR SNP T T C rs2497594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25562829T>C NA NA TPTE2P1 (20204 upstream) : LSP1 (28711 downstream) NA NA NA ATGGAACCACTACAGGCCCTG 0.478 NA C||| 472 0.0942492 0.0431 0.0432 5008 , , NA 16592 0.122 NA 0.0646 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.25562829T>C NA hg19 0.02 -0.184236 CACxACA COVERED NOVEL 0 2 2.406308 KEEP 0 0 0 8 236 TT 0.99257 0.420331 0 6 60 226 0 0 20.006556 15 60 546 31 0.285714 0.423478 AMER2 219287 __UNKNOWN__ __UNKNOWN__ 13 25740132 25740132 __UNKNOWN__ 3'UTR SNP C C G rs73479448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25740132C>G ENST00000357816.2 - 0 5744 Q8N7J2 AMER2_HUMAN APC membrane recruitment protein 2 NA NA ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055) plasma membrane (GO:0005886) phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) NA CTGACAAAGGCGTAAATAATG 0.393 NA C||| 1074 0.214457 0.2375 0.1643 5008 , , NA 17859 0.2222 NA 0.1521 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK055049 CCDS9312.1, CCDS53859.1 13q12.13 2013-10-11 2012-12-03 2012-12-03 ENSG00000165566 ENSG00000165566 219287 - 26360 protein-coding gene gene with protein product 614659 family with sequence similarity 123A FAM123A NA 20843316 Standard NM_152704 XM_005266279 NA Approved FLJ25477 uc001uqb.3 Q8N7J2 OTTHUMG00000016602 ENST00000357816.2:c.*3610G>C chr13.hg19:g.25740132C>G NA Q5RL80|Q5VX56|Q8N593|Q96NN5 hg19 CCDS9312.1 0.02 6.17439 AGGxGTA COVERED NOVEL AMER2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044221.2 0 5.718228 KEEP 0 0 0 19 654 CC 0.99986 0.99986 0 - 6 60 218 0 0 13.397919 164 60 5664 208 ENST00000357816.2 0.035294 1 MTMR6 9107 __UNKNOWN__ __UNKNOWN__ 13 25802676 25802676 __UNKNOWN__ 3'UTR SNP A A G rs7319109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25802676A>G ENST00000540661.1 - 0 1967 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) AAATTCAAGGATTCATTGGCC 0.448 NA A||| 729 0.145567 0.236 0.072 5008 , , NA 22642 0.3065 NA 0.0 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF072928 CCDS9313.1 13q12 2011-06-09 ENSG00000139505 ENSG00000139505 9107 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 7453 protein-coding gene gene with protein product 603561 NA 9736772 Standard NM_004685 NM_004685 NA Approved uc001uqf.4 Q9Y217 OTTHUMG00000016606 ENST00000540661.1:c.*2T>C chr13.hg19:g.25802676A>G NA B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80 hg19 0.02 13.578457 AGGxTTC COVERED NOVEL MTMR6-201 KNOWN basic protein_coding NA protein_coding 1 9.328779 KEEP 0 0 0 31 998 AA 0.999997 0.999997 0 - 14 60 512 1 0 32.62203 322 60 11897 444 ENST00000540661.1 0.041667 1 MTMR6 9107 __UNKNOWN__ __UNKNOWN__ 13 25840379 25840379 __UNKNOWN__ Missense_Mutation SNP T T C rs201090774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:25840379T>C ENST00000381801.5 - 4 1111 c.350A>G c.(349-351)aAt>aGt p.N117S MTMR6_ENST00000540661.1_Missense_Mutation_p.N117S NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 117 NA peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTCTGAATCATTTTGTTTGGG 0.368 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 18405 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 82 78 80 NA NA 13 NA 25840379 2203 4300 6503 SO:0001583 missense AF072928 CCDS9313.1 13q12 2011-06-09 ENSG00000139505 ENSG00000139505 9107 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 7453 protein-coding gene gene with protein product 603561 NA 9736772 Standard NM_004685 NM_004685 NA Approved uc001uqf.4 Q9Y217 OTTHUMG00000016606 ENST00000381801.5:c.350A>G chr13.hg19:g.25840379T>C ENSP00000371221:p.Asn117Ser NA B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80 hg19 CCDS9313.1 0.02 4.346981 TCAxTTT COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 T 11.87 1.766318 0.31228 . . ENSG00000139505 ENST00000540661;ENST00000541021;ENST00000381801 D;D 0.92149 -2.98;-2.98 5.33 5.33 0.75918 . 0.083274 0.85682 D 0.000000 D 0.82893 0.5136 N 0.11000 0.08 0.58432 D 0.999996 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.78206 -0.2294 10 0.11794 T 0.64 . 15.315 0.74069 0.0:0.0:0.0:1.0 . 117;117 Q9Y217;Q9Y217-2 MTMR6_HUMAN;. S 117 ENSP00000443161:N117S;ENSP00000371221:N117S ENSP00000371221:N117S N - 2 0 MTMR6 24738379 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 5.921000 0.70028 2.027000 0.59764 0.528000 0.53228 AAT NOVEL MTMR6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044225.1 0 10.231743 KEEP 0 0 0 34 1103 TT 0.999998 0.999998 0 - 6 60 232 0 0 15.308347 134 60 4874 203 ENST00000381801.5 0.042857 1 ATP8A2 51761 __UNKNOWN__ __UNKNOWN__ 13 26595647 26595647 __UNKNOWN__ 3'UTR SNP G G A rs9553700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26595647G>A ENST00000381655.2 + 0 5233 NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 NA NA aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588) cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGTGAAGAGCGGAATCACTGA 0.438 NA G||| 1190 0.23762 0.093 0.33 5008 , , NA 19217 0.4921 NA 0.1034 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137256 CCDS41873.1 13q12 2010-04-20 2010-03-31 ENSG00000132932 ENSG00000132932 51761 3.6.3.1 ATPases / P-type 13533 protein-coding gene gene with protein product 605870 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 NA 11015572, 19778899 Standard NM_016529 NM_016529 NA Approved ATPIB, ML-1 uc001uqk.3 Q9NTI2 OTTHUMG00000016611 ENST00000381655.2:c.*1524G>A chr13.hg19:g.26595647G>A NA Q9H527|Q9NPU6|Q9NTL2|Q9NYM3 hg19 CCDS41873.1 0.02 8.913932 AGCxGAA COVERED NOVEL ATP8A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044236.2 3 11.735774 KEEP 0 0 0 39 1286 GG 1 1 0 + 7 60 267 0 0 16.574987 213 60 7304 315 ENST00000381655.2 0.031818 1 ATP8A2 51761 __UNKNOWN__ __UNKNOWN__ 13 26596562 26596562 __UNKNOWN__ 3'UTR SNP A A G rs1886490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26596562A>G ENST00000381655.2 + 0 6148 NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 NA NA aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588) cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TGTTTCTTACATTAGAGTTCA 0.343 NA A||| 1193 0.238219 0.0946 0.3285 5008 , , NA 19985 0.4921 NA 0.1054 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137256 CCDS41873.1 13q12 2010-04-20 2010-03-31 ENSG00000132932 ENSG00000132932 51761 3.6.3.1 ATPases / P-type 13533 protein-coding gene gene with protein product 605870 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 NA 11015572, 19778899 Standard NM_016529 NM_016529 NA Approved ATPIB, ML-1 uc001uqk.3 Q9NTI2 OTTHUMG00000016611 ENST00000381655.2:c.*2439A>G chr13.hg19:g.26596562A>G NA Q9H527|Q9NPU6|Q9NTL2|Q9NYM3 hg19 CCDS41873.1 0.02 12.869781 TACxTTA COVERED NOVEL ATP8A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044236.2 4 8.725793 KEEP 0 0 0 29 898 AA 0.999997 0.999997 0 + 15 60 548 0 0 36.037786 288 60 10666 383 ENST00000381655.2 0.049505 1 ATP8A2 51761 __UNKNOWN__ __UNKNOWN__ 13 26598231 26598231 __UNKNOWN__ 3'UTR SNP G G T rs6491097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26598231G>T ENST00000381655.2 + 0 7817 NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 NA NA aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588) cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GTTGGGTTTGGTTTTGGTTCT 0.383 NA T||| 1560 0.311502 0.3056 0.3631 5008 , , NA 19228 0.4891 NA 0.1431 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137256 CCDS41873.1 13q12 2010-04-20 2010-03-31 ENSG00000132932 ENSG00000132932 51761 3.6.3.1 ATPases / P-type 13533 protein-coding gene gene with protein product 605870 ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2, ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 NA 11015572, 19778899 Standard NM_016529 NM_016529 NA Approved ATPIB, ML-1 uc001uqk.3 Q9NTI2 OTTHUMG00000016611 ENST00000381655.2:c.*4108G>T chr13.hg19:g.26598231G>T NA Q9H527|Q9NPU6|Q9NTL2|Q9NYM3 hg19 CCDS41873.1 0.02 5.686373 TTGxTTT COVERED NOVEL ATP8A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044236.2 0 6.320371 KEEP 0 0 0 21 724 GG 0.999869 0.999869 0 + 7 60 236 0 0 14.104903 173 60 6348 229 ENST00000381655.2 0.038889 1 SHISA2 387914 __UNKNOWN__ __UNKNOWN__ 13 26619258 26619258 __UNKNOWN__ 3'UTR SNP C C T rs17083086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26619258C>T ENST00000319420.3 - 0 2336 NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 NA NA multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 TCCCAAGTCTCAGGTTATGGC 0.313 NA C||| 543 0.108427 0.0817 0.0605 5008 , , NA 18355 0.2222 NA 0.0 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS31951.1 13q12.13 2013-07-31 2013-07-31 2008-04-01 ENSG00000180730 ENSG00000180730 387914 Shisa homologs 20366 protein-coding gene gene with protein product chromosome 13 open reading frame 13, transmembrane protein 46, shisa homolog 2 (Xenopus laevis) C13orf13, TMEM46 NA Standard NM_001007538 NM_001007538 NA Approved bA398O19.2, PRO28631, WGAR9166, hShisa uc001uqm.1 Q6UWI4 OTTHUMG00000016612 ENST00000319420.3:c.*1393G>A chr13.hg19:g.26619258C>T NA B9EH70|Q5W0G8 hg19 CCDS31951.1 0.02 8.627308 TCTxAGG COVERED NOVEL SHISA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044239.2 3 2.708895 KEEP 0 0 0 9 323 CC 0.99254 0.99254 0 - 10 60 358 0 0 23.163195 198 60 7508 243 ENST00000319420.3 0.048077 1 SHISA2 387914 __UNKNOWN__ __UNKNOWN__ 13 26620777 26620777 __UNKNOWN__ Silent SNP G G A rs77556088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26620777G>A ENST00000319420.3 - 2 817 c.762C>T c.(760-762)caC>caT p.H254H NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 254 NA multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 GCACAGAGTCGTGCTGCACCG 0.572 NA A||| 555 0.110823 0.0825 0.0591 5008 , , NA 20492 0.2351 NA 0.0 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 A 268,4138 801.9+/-415.6 9,250,1944 138 111 120 762 -11.5 0 13 dbSNP_131 120 5,8595 819.0+/-406.8 0,5,4295 no coding-synonymous SHISA2 NM_001007538.1 9,255,6239 AA,AG,GG 0.0581,6.0826,2.099 254/296 26620777 273,12733 2203 4300 6503 SO:0001819 synonymous_variant CCDS31951.1 13q12.13 2013-07-31 2013-07-31 2008-04-01 ENSG00000180730 ENSG00000180730 387914 Shisa homologs 20366 protein-coding gene gene with protein product chromosome 13 open reading frame 13, transmembrane protein 46, shisa homolog 2 (Xenopus laevis) C13orf13, TMEM46 NA Standard NM_001007538 NM_001007538 NA Approved bA398O19.2, PRO28631, WGAR9166, hShisa uc001uqm.1 Q6UWI4 OTTHUMG00000016612 ENST00000319420.3:c.762C>T chr13.hg19:g.26620777G>A NA B9EH70|Q5W0G8 hg19 CCDS31951.1 0.02 11.289224 GTCxTGC COVERED NOVEL SHISA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044239.2 0 8.726209 KEEP 0 0 0 29 984 GG 0.999997 0.999997 0 - 12 60 450 0 0 29.455752 256 60 8562 343 ENST00000319420.3 0.044776 1 SHISA2 387914 __UNKNOWN__ __UNKNOWN__ 13 26620924 26620924 __UNKNOWN__ Silent SNP G G A rs77010561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26620924G>A ENST00000319420.3 - 2 670 c.615C>T c.(613-615)aaC>aaT p.N205N NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 205 NA multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 GCAAGCAACAGTTGGTCTGTG 0.607 NA G||| 553 0.110423 0.0817 0.0605 5008 , , NA 20279 0.2351 NA 0.0 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 G 266,4140 151.4+/-185.3 9,248,1946 128 123 125 615 4.4 1 13 dbSNP_131 125 5,8595 5.0+/-18.6 0,5,4295 no coding-synonymous SHISA2 NM_001007538.1 9,253,6241 AA,AG,GG 0.0581,6.0372,2.0837 205/296 26620924 271,12735 2203 4300 6503 SO:0001819 synonymous_variant CCDS31951.1 13q12.13 2013-07-31 2013-07-31 2008-04-01 ENSG00000180730 ENSG00000180730 387914 Shisa homologs 20366 protein-coding gene gene with protein product chromosome 13 open reading frame 13, transmembrane protein 46, shisa homolog 2 (Xenopus laevis) C13orf13, TMEM46 NA Standard NM_001007538 NM_001007538 NA Approved bA398O19.2, PRO28631, WGAR9166, hShisa uc001uqm.1 Q6UWI4 OTTHUMG00000016612 ENST00000319420.3:c.615C>T chr13.hg19:g.26620924G>A NA B9EH70|Q5W0G8 hg19 CCDS31951.1 0.02 14.551821 ACAxTTG COVERED NOVEL SHISA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044239.2 2 20.467159 KEEP 0 0 0 68 2459 GG 1 1 0 - 15 60 540 0 0 33.476677 380 60 14357 551 ENST00000319420.3 0.037975 1 SHISA2 387914 __UNKNOWN__ __UNKNOWN__ 13 26620978 26620978 __UNKNOWN__ Silent SNP G G T rs74965018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:26620978G>T ENST00000319420.3 - 2 616 c.561C>A c.(559-561)tcC>tcA p.S187S NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 187 NA multicellular organismal development (GO:0007275) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 CGCTGGAGCTGGAACTGGCAG 0.632 NA G||| 648 0.129393 0.1498 0.0663 5008 , , NA 18602 0.2351 NA 0.0 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 G 511,3895 230.1+/-244.4 37,437,1729 63 70 68 561 5.1 1 13 dbSNP_131 68 22,8578 16.0+/-53.3 0,22,4278 no coding-synonymous SHISA2 NM_001007538.1 37,459,6007 TT,TG,GG 0.2558,11.5978,4.0981 187/296 26620978 533,12473 2203 4300 6503 SO:0001819 synonymous_variant CCDS31951.1 13q12.13 2013-07-31 2013-07-31 2008-04-01 ENSG00000180730 ENSG00000180730 387914 Shisa homologs 20366 protein-coding gene gene with protein product chromosome 13 open reading frame 13, transmembrane protein 46, shisa homolog 2 (Xenopus laevis) C13orf13, TMEM46 NA Standard NM_001007538 NM_001007538 NA Approved bA398O19.2, PRO28631, WGAR9166, hShisa uc001uqm.1 Q6UWI4 OTTHUMG00000016612 ENST00000319420.3:c.561C>A chr13.hg19:g.26620978G>T NA B9EH70|Q5W0G8 hg19 CCDS31951.1 0.02 11.143582 GCTxGAA COVERED NOVEL SHISA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044239.2 1 15.651248 KEEP 0 0 0 52 1883 GG 1 1 0 - 10 60 379 0 0 24.053485 263 60 9936 388 ENST00000319420.3 0.03663 1 CDX2 1045 __UNKNOWN__ __UNKNOWN__ 13 28539186 28539186 __UNKNOWN__ Intron SNP G G A rs3742110|rs386769409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:28539186G>A ENST00000381020.7 - 2 2674 CDX2_ENST00000548877.1_Intron NM_001265.4 NP_001256.3 Q99626 CDX2_HUMAN caudal type homeobox 2 NA NA anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829) condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) endometrium(2)|large_intestine(1)|lung(6) 9 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) GCTGAGAACTGCAAGGCAGCC 0.562 NA T ETV6 AML G||| 1270 0.253594 0.1331 0.4135 5008 , , NA 17412 0.3651 NA 0.2893 False NA ,,, NA NA NA 2504 0.1513 NA NA NA Dom yes 13 13q12.3 1045 caudal type homeo box transcription factor 2 L 0 G 650,3756 271.3+/-270.1 52,546,1605 57 46 49 -4.9 0 13 dbSNP_107 49 2438,6162 396.2+/-345.3 333,1772,2195 no intron CDX2 NM_001265.3 385,2318,3800 AA,AG,GG 28.3488,14.7526,23.7429 28539186 3088,9918 2203 4300 6503 SO:0001627 intron_variant Y13709 CCDS9328.1 13q12.2 2012-03-09 2007-07-09 ENSG00000165556 ENSG00000165556 1045 Homeoboxes / ANTP class : HOXL subclass 1806 protein-coding gene gene with protein product 600297 caudal type homeo box transcription factor 2 CDX3 NA 7698771 Standard NM_001265 NA Approved uc001urv.4 Q99626 OTTHUMG00000016640 ENST00000381020.7:c.542-34C>T chr13.hg19:g.28539186G>A NA O00503|Q5VTU7|Q969L8|Q9UD92 hg19 CCDS9328.1 0.02 4.23831 ACTxCAA COVERED NOVEL CDX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044312.5 0 4.213547 KEEP 0 0 0 14 492 GG 0.995343 0.995343 0 - 7 60 258 0 0 17.051577 134 60 5096 181 ENST00000381020.7 0.049645 1 FLT3 2322 __UNKNOWN__ __UNKNOWN__ 13 28589495 28589495 __UNKNOWN__ Intron SNP C C G rs9579142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:28589495C>G ENST00000241453.7 - 22 2735 FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Intron NM_004119.2 NP_004110.2 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 NA NA B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084) endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268) gtgccagacactgttgcaggc 0.453 NA Mis, O AML, ALL C||| 1141 0.227835 0.1263 0.268 5008 , , NA 19049 0.1448 NA 0.4135 False NA ,,, NA NA NA 2504 0.2311 NA NA NA Dom yes 13 13q12 2322 fms-related tyrosine kinase 3 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U02687 CCDS31953.1 13q12 2014-09-17 ENSG00000122025 ENSG00000122025 2322 2.7.10.1 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3765 protein-coding gene gene with protein product 136351 NA 8394751 Standard NM_004119 NA Approved STK1, FLK2, CD135 uc001urw.3 P36888 OTTHUMG00000016646 ENST00000241453.7:c.2654-102G>C chr13.hg19:g.28589495C>G NA A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414 hg19 CCDS31953.1 0.02 4.32291 ACAxTGT COVERED NOVEL FLT3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000044319.2 0 3.009881 KEEP 0 0 0 10 363 CC 0.992708 0.992706 0 - 5 60 181 0 0 11.463666 115 60 4377 143 ENST00000241453.7 0.041667 0.999999 PAN3 255967 __UNKNOWN__ __UNKNOWN__ 13 28752115 28752115 __UNKNOWN__ Intron SNP A A C rs4142558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:28752115A>C ENST00000380958.3 + 4 842 PAN3_ENST00000399613.1_Intron NM_175854.7 NP_787050.6 PAN3 poly(A) specific ribonuclease subunit NA NA endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TGGAATTTAGAAGTGATGTTG 0.373 NA A||| 750 0.14976 0.1407 0.0533 5008 , , NA 18950 0.3393 NA 0.0954 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 A 689,3717 286.0+/-278.5 61,567,1575 65 58 60 -2.7 0 13 dbSNP_110 60 824,7772 184.9+/-232.8 49,726,3523 no intron PAN3 NM_175854.7 110,1293,5098 CC,CA,AA 9.5859,15.6378,11.6367 28752115 1513,11489 2203 4298 6501 SO:0001627 intron_variant AK091307 CCDS9329.1, CCDS9329.2 13q12.2 2014-03-27 2014-03-27 ENSG00000152520 ENSG00000152520 255967 29991 protein-coding gene gene with protein product PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) NA 14583602 Standard NM_175854 NM_175854 NA Approved uc001urz.3 Q58A45 OTTHUMG00000016645 ENST00000380958.3:c.690+43A>C chr13.hg19:g.28752115A>C NA hg19 CCDS9329.2 0.02 9.22081 TAGxAGT COVERED NOVEL PAN3-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044318.4 0 10.526887 KEEP 0 0 0 35 1011 AA 0.999999 0.999999 0 + 10 60 382 0 0 25.30968 210 60 7545 277 ENST00000380958.3 0.045455 1 PAN3 255967 __UNKNOWN__ __UNKNOWN__ 13 28867258 28867258 __UNKNOWN__ 3'UTR SNP C C G rs9554310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:28867258C>G ENST00000399613.1 + 0 2726 PAN3_ENST00000282391.5_3'UTR PAN3 poly(A) specific ribonuclease subunit NA NA endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AAGAACATACCAAGAAAATAC 0.328 NA C||| 817 0.163139 0.1778 0.0576 5008 , , NA 16962 0.3482 NA 0.0994 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091307 CCDS9329.1, CCDS9329.2 13q12.2 2014-03-27 2014-03-27 ENSG00000152520 ENSG00000152520 255967 29991 protein-coding gene gene with protein product PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) NA 14583602 Standard NM_175854 NM_175854 NA Approved uc001urz.3 Q58A45 OTTHUMG00000016645 ENST00000399613.1:c.*599C>G chr13.hg19:g.28867258C>G NA hg19 0.02 4.587533 TACxAAG COVERED NOVEL PAN3-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000044317.3 2 5.718126 KEEP 0 0 0 19 651 CC 0.99986 0.999859 0 + 7 60 255 0 0 17.154357 117 60 4315 162 ENST00000399613.1 0.056452 0.999999 FLT1 2321 __UNKNOWN__ __UNKNOWN__ 13 28875789 28875789 __UNKNOWN__ 3'UTR SNP A A C rs9554314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:28875789A>C ENST00000282397.4 - 0 5783 NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 NA NA blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084) endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268) TGCAGACATCATAAATACATA 0.458 NA C||| 1196 0.238818 0.4516 0.0807 5008 , , NA 21038 0.3532 NA 0.0994 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF063657 CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1 13q12 2014-09-17 2012-11-19 ENSG00000102755 ENSG00000102755 2321 2.7.10.1 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 3763 protein-coding gene gene with protein product vascular endothelial growth factor receptor 1, vascular permeability factor receptor 165070 fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) FLT NA 2158038 Standard NM_001159920 NA Approved VEGFR1 uc001usb.3 P17948 OTTHUMG00000016648 ENST00000282397.4:c.*1515T>G chr13.hg19:g.28875789A>C NA A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954 hg19 CCDS9330.1 0.02 6.83636 ATCxTAA COVERED NOVEL FLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044322.1 0 8.124474 KEEP 0 0 0 27 843 AA 0.999988 0.999988 0 - 6 60 231 0 0 14.631716 168 60 6213 237 ENST00000282397.4 0.034483 1 POMP 51371 __UNKNOWN__ __UNKNOWN__ 13 29238576 29238576 __UNKNOWN__ Intron SNP T T C rs3737528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:29238576T>C ENST00000380842.4 + 3 182 POMP_ENST00000460403.1_Intron NM_015932.5 NP_057016.1 Q9Y244 POMP_HUMAN proteasome maturation protein NA NA proteasome assembly (GO:0043248) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502) endometrium(2)|kidney(1)|large_intestine(1) 4 Lung SC(185;0.0367) all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216) tttatagATATGATTTTGAGC 0.338 NA T||| 2130 0.425319 0.3775 0.4856 5008 , , NA 12962 0.5109 NA 0.337 False NA ,,, NA NA NA 2504 0.4499 NA NA NA NA 0 19 16 17 NA NA 13 NA 29238576 692 1572 2264 SO:0001627 intron_variant AF077200 CCDS9331.1 13q12.13 2013-11-11 2006-07-04 2006-07-04 ENSG00000132963 ENSG00000132963 51371 20330 protein-coding gene gene with protein product proteassemblin 613386 chromosome 13 open reading frame 12 C13orf12 NA 11042152 Standard NM_015932 NM_015932 NA Approved HSPC014, UMP1 uc001usf.3 Q9Y244 OTTHUMG00000016652 ENST00000380842.4:c.102-70T>C chr13.hg19:g.29238576T>C NA A5HKJ2|D6MXU3|Q9HB69 hg19 CCDS9331.1 0.02 4.070768 ATAxGAT COVERED NOVEL POMP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044327.1 0 9.628367 KEEP 0 0 0 32 997 TT 0.999997 0.999997 0 + 5 60 186 0 0 11.854416 121 60 4549 204 ENST00000380842.4 0.039683 1 MTUS2 23281 __UNKNOWN__ __UNKNOWN__ 13 29598842 29598842 __UNKNOWN__ Missense_Mutation SNP G G A rs117237504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:29598842G>A ENST00000431530.3 + 1 95 c.37G>A c.(37-39)Gtc>Atc p.V13I NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 3 NA cytoplasm (GO:0005737)|microtubule (GO:0005874) microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GACAATGAGCGTCCCAGTGGC 0.443 NA G||| 40 0.00798722 0.0 0.0 5008 , , NA 20047 0.0377 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 77 74 75 NA NA 13 NA 29598842 1913 4123 6036 SO:0001583 missense AB018317 CCDS41874.1, CCDS45022.1 13q12.3 2013-01-17 2009-10-20 2009-10-20 ENSG00000132938 ENSG00000132938 23281 20595 protein-coding gene gene with protein product +TIP of 150 kDa, cardiac zipper protein KIAA0774 KIAA0774 NA 19543227 Standard XM_166270 NM_001033602 NA Approved TIP150, CAZIP, ICIS uc001usl.4 Q5JR59 OTTHUMG00000016657 ENST00000431530.3:c.37G>A chr13.hg19:g.29598842G>A ENSP00000392057:p.Val13Ile NA A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2 hg19 CCDS45022.1 0.02 25.237234 AGCxTCC COVERED 22 0.010073260073260074 0 0.0 0 0.0 22 0.038461538461538464 0 0.0 g 7.365 0.625559 0.14257 . . ENSG00000132938 ENST00000431530 T 0.14266 2.52 5.84 1.84 0.25277 . 0.571572 0.15637 N 0.252069 T 0.02267 0.0070 L 0.54323 1.7 0.19300 N 0.999973 B 0.31817 0.341 B 0.19148 0.024 T 0.19549 -1.0302 9 . . . . 8.3881 0.32512 0.4127:0.0:0.5873:0.0 . 3 Q5JR59 MTUS2_HUMAN I 13 ENSP00000392057:V13I . V + 1 0 MTUS2 28496842 0.019000 0.18553 0.184000 0.23157 0.347000 0.29111 0.147000 0.16202 0.017000 0.15025 -0.222000 0.12452 GTC NOVEL MTUS2-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000044336.3 0 9.028402 KEEP 0 0 0 30 1024 GG 0.999997 0.999997 0 + 28 60 1057 0 0 70.043822 567 60 20272 709 ENST00000431530.3 0.047059 1 MTUS2 23281 __UNKNOWN__ __UNKNOWN__ 13 29855822 29855822 __UNKNOWN__ Intron SNP C C T rs3751335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:29855822C>T ENST00000431530.3 + 4 2732 NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 NA NA cytoplasm (GO:0005737)|microtubule (GO:0005874) microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 ATAATTAACACGCTGTCTGCC 0.498 NA C||| 975 0.194688 0.0091 0.232 5008 , , NA 15181 0.3502 NA 0.3221 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 C 232,3524 11,210,1657 9 10 10 -5.2 0 13 dbSNP_107 10 2550,5700 390,1770,1965 no intron MTUS2 NM_001033602.2 401,1980,3622 TT,TC,CC 30.9091,6.1768,23.1717 29855822 2782,9224 1878 4125 6003 SO:0001627 intron_variant AB018317 CCDS41874.1, CCDS45022.1 13q12.3 2013-01-17 2009-10-20 2009-10-20 ENSG00000132938 ENSG00000132938 23281 20595 protein-coding gene gene with protein product +TIP of 150 kDa, cardiac zipper protein KIAA0774 KIAA0774 NA 19543227 Standard XM_166270 NM_001033602 NA Approved TIP150, CAZIP, ICIS uc001usl.4 Q5JR59 OTTHUMG00000016657 ENST00000431530.3:c.2675-19C>T chr13.hg19:g.29855822C>T NA A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2 hg19 CCDS45022.1 0.02 2.054352 ACAxGCT COVERED NOVEL MTUS2-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000044336.3 0 3.912631 KEEP 0 0 0 13 448 CC 0.994391 0.99431 0 + 4 60 155 0 0 10.208263 91 60 3267 123 ENST00000431530.3 0.042105 0.999919 HMGB1 3146 __UNKNOWN__ __UNKNOWN__ 13 31035234 31035234 __UNKNOWN__ 3'UTR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:31035234C>G ENST00000405805.1 - 0 1848 HMGB1_ENST00000339872.4_3'UTR|HMGB1_ENST00000341423.5_3'UTR|HMGB1_ENST00000399494.1_3'UTR|HMGB1_ENST00000399489.1_3'UTR P09429 HMGB1_HUMAN high mobility group box 1 NA NA apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151) cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CAACAAGAACCTGCTTTAAAT 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D63874 CCDS9335.1 13q12 2011-07-01 2011-04-05 2002-08-16 ENSG00000189403 ENSG00000189403 3146 High-mobility group / Canonical 4983 protein-coding gene gene with protein product high mobility group box 1, Sulfoglucuronyl carbohydrate binding protein, Amphoterin, high mobility group protein 1 163905 high-mobility group (nonhistone chromosomal) protein 1, high-mobility group box 1 HMG1 NA 8661151, 11279268 Standard NM_002128 NM_002128 NA Approved HMG3, SBP-1, DKFZp686A04236 uc001usx.3 P09429 OTTHUMG00000016670 ENST00000405805.1:c.*260G>C chr13.hg19:g.31035234C>G NA A5D8W9|Q14321|Q5T7C3|Q6IBE1 hg19 CCDS9335.1 0.02 2.539932 AACxTGC COVERED NOVEL HMGB1-012 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000303998.2 0 4.285117 KEEP 28 2 68 38 1329 CC 0.999997 0.963771 0 - 4 25 140 0 0 9.829889 47 48 1776 128 ENST00000405805.1 0.078431 0.963774 ALOX5AP 241 __UNKNOWN__ __UNKNOWN__ 13 31309830 31309830 __UNKNOWN__ Intron SNP C C A rs4769055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:31309830C>A ENST00000380490.3 + 1 168 NM_001204406.1|NM_001629.3 NP_001191335.1|NP_001620.2 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein NA NA arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965) arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485) endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) AAGCCCTTCACTCAGGGAAGA 0.463 NA C||| 2769 0.552915 0.8464 0.4769 5008 , , NA 1691 0.5109 NA 0.2952 False NA ,,, NA NA NA 2504 0.5184 NA NA NA NA 0 C , 3338,1068 722.0+/-409.2 1278,782,143 110 94 100 , 1.8 0 13 dbSNP_111 100 2679,5921 428.8+/-356.0 429,1821,2050 no intron,intron ALOX5AP NM_001204406.1,NM_001629.3 , 1707,2603,2193 AA,AC,CC 31.1512,24.2397,46.2633 , , 31309830 6017,6989 2203 4300 6503 SO:0001627 intron_variant AH001462 CCDS9337.1, CCDS73558.1 13q12 2008-07-18 ENSG00000132965 ENSG00000132965 241 436 protein-coding gene gene with protein product five-lipoxygenase activating protein, MK-886-binding protein 603700 NA 1673682, 10036194 Standard NM_001629 NM_001629 NA Approved FLAP uc010tdr.2 P20292 OTTHUMG00000016677 ENST00000380490.3:c.70+18C>A chr13.hg19:g.31309830C>A NA Q5VV04 hg19 CCDS9337.1 0.02 13.473018 TCAxTCA COVERED NOVEL ALOX5AP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044372.1 4 16.252799 KEEP 0 0 0 54 1939 CC 1 1 0 + 17 60 623 0 0 40.937863 331 60 12700 481 ENST00000380490.3 0.048851 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 31967261 31967261 __UNKNOWN__ IGR SNP G G A rs9547044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:31967261G>A NA NA B3GALTL (60848 upstream) : RXFP2 (346412 downstream) NA NA NA ccttgactttgatccagaacg 0.398 NA a||| 2665 0.532149 0.5507 0.5346 5008 , , NA 16307 0.4821 NA 0.6292 False NA ,,, NA NA NA 2504 0.4571 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.31967261G>A NA hg19 0.02 2.268033 TTTxATC COVERED NOVEL 0 0 3.746646 KEEP 0 1 30 23 804 GG 0.999909 0.999317 0 7 60 260 0 0 18.954739 75 60 2835 139 0.085366 0.999407 RXFP2 122042 __UNKNOWN__ __UNKNOWN__ 13 32348859 32348859 __UNKNOWN__ Intron SNP T T C rs9549049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32348859T>C ENST00000298386.2 + 6 640 RXFP2_ENST00000380314.1_Intron NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500) cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ATTGTAGGTATAATTTTAAGC 0.333 NA T||| 1096 0.21885 0.1596 0.2478 5008 , , NA 21299 0.2659 NA 0.2326 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 T , 849,3555 328.3+/-300.5 78,693,1431 80 80 80 , 1.2 0 13 dbSNP_119 80 2008,6586 349.7+/-327.5 242,1524,2531 no intron,intron RXFP2 NM_001166058.1,NM_130806.3 , 320,2217,3962 CC,CT,TT 23.3651,19.2779,21.9803 , , 32348859 2857,10141 2202 4297 6499 SO:0001627 intron_variant AF403384 CCDS9342.1, CCDS53862.1 13q12.3 2012-08-08 2006-05-09 2006-05-09 ENSG00000133105 ENSG00000133105 122042 GPCR / Class A : Relaxin family peptide receptors 17318 protein-coding gene gene with protein product 606655 leucine-rich repeat-containing G protein-coupled receptor 8 LGR8 NA 12217959, 12970298, 15956688, 16507880 Standard NM_130806 NM_130806 NA Approved GREAT, GPR106, INSL3R, RXFPR2 uc001utt.3 Q8WXD0 OTTHUMG00000016690 ENST00000298386.2:c.569+31T>C chr13.hg19:g.32348859T>C NA B1ALE9|Q3KU23 hg19 CCDS9342.1 0.02 4.194643 GTAxAAT COVERED NOVEL RXFP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044399.1 0 5.414711 KEEP 0 0 0 18 547 TT 0.999859 0.999859 0 + 6 60 228 0 0 14.79758 140 60 5075 196 ENST00000298386.2 0.041096 1 RXFP2 122042 __UNKNOWN__ __UNKNOWN__ 13 32360583 32360583 __UNKNOWN__ Silent SNP A A G rs9549106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32360583A>G ENST00000298386.2 + 12 1064 c.993A>G c.(991-993)ctA>ctG p.L331L RXFP2_ENST00000380314.1_Silent_p.L307L NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 331 NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500) cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TGAAGCTTCTACAAAAGCTGT 0.348 NA A||| 678 0.135383 0.0855 0.1657 5008 , , NA 18830 0.1905 NA 0.1551 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 A , 556,3850 246.2+/-254.9 28,500,1675 89 83 85 921,993 -3.4 1 13 dbSNP_119 85 1227,7373 246.7+/-275.0 89,1049,3162 no coding-synonymous,coding-synonymous RXFP2 NM_001166058.1,NM_130806.3 , 117,1549,4837 GG,GA,AA 14.2674,12.6192,13.7091 , 307/731,331/755 32360583 1783,11223 2203 4300 6503 SO:0001819 synonymous_variant AF403384 CCDS9342.1, CCDS53862.1 13q12.3 2012-08-08 2006-05-09 2006-05-09 ENSG00000133105 ENSG00000133105 122042 GPCR / Class A : Relaxin family peptide receptors 17318 protein-coding gene gene with protein product 606655 leucine-rich repeat-containing G protein-coupled receptor 8 LGR8 NA 12217959, 12970298, 15956688, 16507880 Standard NM_130806 NM_130806 NA Approved GREAT, GPR106, INSL3R, RXFPR2 uc001utt.3 Q8WXD0 OTTHUMG00000016690 ENST00000298386.2:c.993A>G chr13.hg19:g.32360583A>G NA B1ALE9|Q3KU23 hg19 CCDS9342.1 0.02 15.977489 TCTxCAA COVERED NOVEL RXFP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044399.1 0 13.53908 KEEP 0 0 0 45 1360 AA 1 1 0 + 14 60 502 0 0 31.371357 355 60 12639 513 ENST00000298386.2 0.03794 1 FRY 10129 __UNKNOWN__ __UNKNOWN__ 13 32653242 32653242 __UNKNOWN__ Intron SNP A A G rs76615559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32653242A>G ENST00000380250.3 + 2 766 NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTAAACACTATAACAAAAGA 0.348 NA A||| 115 0.0229633 0.0015 0.0576 5008 , , NA 19562 0.0665 NA 0.001 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL049784 CCDS41875.1 13q13.1 2008-02-05 2005-11-24 2005-11-24 ENSG00000073910 ENSG00000073910 10129 20367 protein-coding gene gene with protein product 614818 chromosome 13 open reading frame 14 C13orf14 NA 14702039, 8812419 Standard NM_023037 NM_023037 NA Approved bA37E23.1, 13CDNA73, CG003 uc001utx.3 Q5TBA9 OTTHUMG00000016696 ENST00000380250.3:c.270+72A>G chr13.hg19:g.32653242A>G NA Q9Y3N6 hg19 CCDS41875.1 0.02 4.657526 ACTxTAA COVERED NOVEL FRY-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044405.1 1 4.513185 KEEP 0 0 0 15 454 AA 0.99649 0.996488 0 + 6 60 232 0 0 15.810282 110 60 4016 140 ENST00000380250.3 0.051724 0.999997 FRY 10129 __UNKNOWN__ __UNKNOWN__ 13 32776028 32776028 __UNKNOWN__ Intron SNP C C A rs73169120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32776028C>A ENST00000380250.3 + 30 4242 NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AATCTAGCCACTCTGTCTTAT 0.393 NA C||| 495 0.0988419 0.003 0.0389 5008 , , NA 18622 0.2649 NA 0.0358 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 C 34,3670 0,34,1818 51 46 47 -4.2 0 13 dbSNP_130 47 355,7843 10,335,3754 no intron FRY NM_023037.2 10,369,5572 AA,AC,CC 4.3303,0.9179,3.2684 32776028 389,11513 1852 4099 5951 SO:0001627 intron_variant AL049784 CCDS41875.1 13q13.1 2008-02-05 2005-11-24 2005-11-24 ENSG00000073910 ENSG00000073910 10129 20367 protein-coding gene gene with protein product 614818 chromosome 13 open reading frame 14 C13orf14 NA 14702039, 8812419 Standard NM_023037 NM_023037 NA Approved bA37E23.1, 13CDNA73, CG003 uc001utx.3 Q5TBA9 OTTHUMG00000016696 ENST00000380250.3:c.3747-50C>A chr13.hg19:g.32776028C>A NA Q9Y3N6 hg19 CCDS41875.1 0.02 4.196714 CCAxTCT COVERED NOVEL FRY-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044405.1 0 3.912589 KEEP 0 0 0 13 448 CC 0.995343 0.995342 0 + 6 60 220 0 0 14.454722 117 60 4337 145 ENST00000380250.3 0.04878 0.999999 FRY 10129 __UNKNOWN__ __UNKNOWN__ 13 32776060 32776060 __UNKNOWN__ Intron SNP G G T rs9567419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32776060G>T ENST00000380250.3 + 30 4242 NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTTTGTTTTGTTCTGTTGTG 0.373 NA G||| 495 0.0988419 0.003 0.0389 5008 , , NA 18561 0.2649 NA 0.0358 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 G 33,3675 0,33,1821 89 79 82 -5.6 0 13 dbSNP_119 82 334,7864 10,314,3775 no intron FRY NM_023037.2 10,347,5596 TT,TG,GG 4.0742,0.89,3.0825 32776060 367,11539 1854 4099 5953 SO:0001627 intron_variant AL049784 CCDS41875.1 13q13.1 2008-02-05 2005-11-24 2005-11-24 ENSG00000073910 ENSG00000073910 10129 20367 protein-coding gene gene with protein product 614818 chromosome 13 open reading frame 14 C13orf14 NA 14702039, 8812419 Standard NM_023037 NM_023037 NA Approved bA37E23.1, 13CDNA73, CG003 uc001utx.3 Q5TBA9 OTTHUMG00000016696 ENST00000380250.3:c.3747-18G>T chr13.hg19:g.32776060G>T NA Q9Y3N6 hg19 CCDS41875.1 0.02 6.528098 TTTxTTC COVERED NOVEL FRY-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044405.1 0 8.427697 KEEP 0 0 0 28 1004 GG 0.999997 0.999997 0 + 7 60 258 0 0 16.380894 168 60 6464 232 ENST00000380250.3 0.04 1 FRY 10129 __UNKNOWN__ __UNKNOWN__ 13 32776153 32776153 __UNKNOWN__ Silent SNP T T C rs9567420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32776153T>C ENST00000380250.3 + 30 4318 c.3822T>C c.(3820-3822)taT>taC p.Y1274Y NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1274 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GAGAGATTTATGAAATCTCCA 0.368 NA T||| 495 0.0988419 0.003 0.0389 5008 , , NA 18615 0.2649 NA 0.0358 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 T 36,3746 0,36,1855 139 124 129 3822 3.2 1 13 dbSNP_119 129 357,7873 10,337,3768 no coding-synonymous FRY NM_023037.2 10,373,5623 CC,CT,TT 4.3378,0.9519,3.2717 1274/3014 32776153 393,11619 1891 4115 6006 SO:0001819 synonymous_variant AL049784 CCDS41875.1 13q13.1 2008-02-05 2005-11-24 2005-11-24 ENSG00000073910 ENSG00000073910 10129 20367 protein-coding gene gene with protein product 614818 chromosome 13 open reading frame 14 C13orf14 NA 14702039, 8812419 Standard NM_023037 NM_023037 NA Approved bA37E23.1, 13CDNA73, CG003 uc001utx.3 Q5TBA9 OTTHUMG00000016696 ENST00000380250.3:c.3822T>C chr13.hg19:g.32776153T>C NA Q9Y3N6 hg19 CCDS41875.1 0.02 12.463554 TTAxGAA COVERED NOVEL FRY-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044405.1 2 20.45788 KEEP 0 0 0 68 2132 TT 1 1 0 + 12 60 427 0 0 25.925081 326 60 12178 509 ENST00000380250.3 0.035503 1 ZAR1L 646799 __UNKNOWN__ __UNKNOWN__ 13 32885658 32885658 __UNKNOWN__ Silent SNP G G A rs371193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32885658G>A ENST00000533490.2 - 3 823 c.405C>T c.(403-405)ccC>ccT p.P135P ZAR1L_ENST00000345108.6_Silent_p.P135P A6NP61 ZAR1L_HUMAN zygote arrest 1-like 135 NA cytoplasm (GO:0005737) NS(1)|kidney(1) 2 GGCCGGTGGCGGGCGAAGTGA 0.731 NA g||| 803 0.160343 0.1785 0.1412 5008 , , NA 13103 0.1528 NA 0.1938 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 2 3 3 NA NA 13 NA 32885658 495 1316 1811 SO:0001819 synonymous_variant CCDS45023.1 13q13.1 2014-02-20 ENSG00000189167 ENSG00000189167 646799 37116 protein-coding gene gene with protein product zinc finger, 3CxxC-type 7 NA 18442940 Standard NM_001136571 NA Approved Z3CXXC7 uc010abc.1 A6NP61 OTTHUMG00000016694 ENST00000533490.2:c.405C>T chr13.hg19:g.32885658G>A NA B2RV03|B7ZBU2 hg19 CCDS45023.1 0.02 6.435366 GGCxGGC COVERED NOVEL ZAR1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044403.5 2 30.693495 KEEP 0 0 0 102 3435 GG 1 1 0 - 6 60 215 0 0 13.21296 157 60 5425 321 ENST00000533490.2 0.03681 1 BRCA2 675 __UNKNOWN__ __UNKNOWN__ 13 32912299 32912299 __UNKNOWN__ Silent SNP T T C rs543304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32912299T>C ENST00000380152.3 + 11 4040 c.3807T>C c.(3805-3807)gtT>gtC p.V1269V BRCA2_ENST00000544455.1_Silent_p.V1269V P51587 BRCA2_HUMAN breast cancer 2, early onset 1269 NA brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATGATTCTGTTGTTTCAATGT 0.274 NA D, Mis, N, F, S breast, ovarian, pancreatic breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) T||| 842 0.168131 0.1846 0.1527 5008 , , NA 19007 0.1726 NA 0.1998 False NA ,,, NA NA NA 2504 0.1196 NA NA NA Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675 familial breast/ovarian cancer gene 2 L, E 0 T 874,3532 313.0+/-292.9 86,702,1415 27 28 28 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 3807 1.6 0 13 dbSNP_83 28 1610,6982 278.0+/-293.2 150,1310,2836 no coding-synonymous BRCA2 NM_000059.3 236,2012,4251 CC,CT,TT 18.7384,19.8366,19.1106 1269/3419 32912299 2484,10514 2203 4296 6499 SO:0001819 synonymous_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675 Fanconi anemia, complementation groups 1101 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 2 600185 Fanconi anemia, complementation group D1 FANCD1, FACD, FANCD NA 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 NA Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.3807T>C chr13.hg19:g.32912299T>C NA O00183|O15008|Q13879|Q5TBJ7 hg19 CCDS9344.1 0.02 3.680927 TGTxGTT COVERED NOVEL BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046000.2 0 4.21201 KEEP 0 0 0 14 420 TT 0.995343 0.995343 0 + 7 60 218 0 0 13.439485 118 60 4290 151 ENST00000380152.3 0.056 0.999999 BRCA2 675 __UNKNOWN__ __UNKNOWN__ 13 32973012 32973012 __UNKNOWN__ 3'UTR SNP A A C rs368971738|rs15869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:32973012A>C ENST00000380152.3 + 0 10595 BRCA2_ENST00000544455.1_3'UTR P51587 BRCA2_HUMAN breast cancer 2, early onset NA NA brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283) BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141) gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GCACAATGAGAAAAGAAATTA 0.343 NA D, Mis, N, F, S breast, ovarian, pancreatic breast, ovarian, pancreatic, leukemia (FANCB, FANCD1) Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) A||| 805 0.160743 0.0113 0.0965 5008 , , NA 18669 0.248 NA 0.2356 False NA ,,, NA NA NA 2504 0.2413 NA NA NA Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) yes Rec yes Hereditary breast/ovarian cancer 13 13q12 675 familial breast/ovarian cancer gene 2 L, E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups) U43746 CCDS9344.1 13q12-q13 2014-09-17 2003-10-14 ENSG00000139618 ENSG00000139618 675 Fanconi anemia, complementation groups 1101 protein-coding gene gene with protein product BRCA1/BRCA2-containing complex, subunit 2 600185 Fanconi anemia, complementation group D1 FANCD1, FACD, FANCD NA 8091231, 7581463, 15057823 Standard NM_000059 NM_000059 NA Approved FAD, FAD1, BRCC2 uc001uub.1 P51587 OTTHUMG00000017411 ENST00000380152.3:c.*105A>C chr13.hg19:g.32973012A>C NA O00183|O15008|Q13879|Q5TBJ7 hg19 CCDS9344.1 0.02 2.153913 GAGxAAA COVERED NOVEL BRCA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000046000.2 0 6.620252 KEEP 0 0 0 22 711 AA 0.999879 0.999798 0 + 8 60 304 0 0 22.300954 87 60 3168 140 ENST00000380152.3 0.084211 0.999919 N4BP2L2 10443 __UNKNOWN__ __UNKNOWN__ 13 33052294 33052294 __UNKNOWN__ Intron SNP C C T rs380627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:33052294C>T ENST00000380121.3 - 2 97 N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Intron Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 NA NA negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053) enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106) kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TCAATCTCAACGAAGAACTTG 0.363 NA T||| 3782 0.755192 0.8578 0.6239 5008 , , NA 22400 0.7946 NA 0.7972 False NA ,,, NA NA NA 2504 0.6258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U50532 CCDS9346.1, CCDS45024.1, CCDS61307.1 13q13.1 2010-12-02 ENSG00000244754 ENSG00000244754 10443 26916 protein-coding gene gene with protein product phosphonoformate immuno-associated protein 5 615788 NA 8812419 Standard NM_014887 NM_014887 NA Approved CG005, PFAAP5 uc010abe.1 Q92802 OTTHUMG00000016700 ENST00000380121.3:c.2710+70G>A chr13.hg19:g.33052294C>T NA A3KME8 hg19 0.02 10.076319 CAAxGAA COVERED NOVEL N4BP2L2-013 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000468133.1 1 7.823567 KEEP 0 0 0 26 823 CC 0.999957 0.999957 0 - 9 60 325 0 0 19.508989 272 60 8771 317 ENST00000380121.3 0.032028 1 N4BP2L2 10443 __UNKNOWN__ __UNKNOWN__ 13 33095620 33095620 __UNKNOWN__ Intron SNP G G A rs621450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:33095620G>A ENST00000267068.3 - 5 1638 N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 NA NA negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053) enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106) kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CAAAAACCCAGAGAAGTACTT 0.348 NA G||| 1585 0.316494 0.1573 0.2378 5008 , , NA 17260 0.4544 NA 0.3459 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 G , 771,3633 299.0+/-285.6 64,643,1495 36 37 37 , 3.4 1 13 dbSNP_83 37 3195,5401 474.1+/-368.8 598,1999,1701 no intron,intron N4BP2L2 NM_014887.2,NM_033111.3 , 662,2642,3196 AA,AG,GG 37.1685,17.5068,30.5077 , , 33095620 3966,9034 2202 4298 6500 SO:0001627 intron_variant U50532 CCDS9346.1, CCDS45024.1, CCDS61307.1 13q13.1 2010-12-02 ENSG00000244754 ENSG00000244754 10443 26916 protein-coding gene gene with protein product phosphonoformate immuno-associated protein 5 615788 NA 8812419 Standard NM_014887 NM_014887 NA Approved CG005, PFAAP5 uc010abe.1 Q92802 OTTHUMG00000016700 ENST00000267068.3:c.1474-34C>T chr13.hg19:g.33095620G>A NA A3KME8 hg19 CCDS9346.1 0.02 -0.412349 CCAxAGA COVERED NOVEL N4BP2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044421.1 0 6.621563 KEEP 0 0 0 22 781 GG 0.999879 0.941627 0 - 3 60 108 0 0 7.387672 44 60 1669 84 ENST00000267068.3 0.06383 0.941741 N4BP2L2 10443 __UNKNOWN__ __UNKNOWN__ 13 33101731 33101731 __UNKNOWN__ Intron SNP T T C rs66989417|rs376562466|rs391612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:33101731T>C ENST00000267068.3 - 3 1424 N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 NA NA negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053) enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106) kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AGAAATAAACTATCAGAAATA 0.323 NA C||| 3079 0.614816 0.6157 0.5202 5008 , , NA 17117 0.5992 NA 0.7485 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U50532 CCDS9346.1, CCDS45024.1, CCDS61307.1 13q13.1 2010-12-02 ENSG00000244754 ENSG00000244754 10443 26916 protein-coding gene gene with protein product phosphonoformate immuno-associated protein 5 615788 NA 8812419 Standard NM_014887 NM_014887 NA Approved CG005, PFAAP5 uc010abe.1 Q92802 OTTHUMG00000016700 ENST00000267068.3:c.1260-62A>G chr13.hg19:g.33101731T>C NA A3KME8 hg19 CCDS9346.1 0.02 11.13669 AACxATC COVERED NOVEL N4BP2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044421.1 1 21.362756 KEEP 0 0 0 71 2221 TT 1 1 0 - 10 60 379 0 0 23.689553 287 60 10037 400 ENST00000267068.3 0.03367 1 STARD13 90627 __UNKNOWN__ __UNKNOWN__ 13 33677971 33677971 __UNKNOWN__ 3'UTR SNP A A C rs536850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:33677971A>C ENST00000336934.5 - 0 5217 STARD13_ENST00000255486.4_3'UTR|STARD13_ENST00000399365.3_3'UTR NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739) GTPase activator activity (GO:0005096)|lipid binding (GO:0008289) breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TATATGGTTAAATTCAAGATG 0.378 NA A||| 1209 0.241414 0.1959 0.304 5008 , , NA 21285 0.2133 NA 0.2147 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL049801 CCDS9348.1, CCDS9349.1, CCDS9350.1 13q13.1 2013-08-13 2007-08-16 ENSG00000133121 ENSG00000133121 90627 Rho GTPase activating proteins, StAR-related lipid transfer (START) domain containing 19164 protein-coding gene gene with protein product 609866 START domain containing 13, long intergenic non-protein coding RNA 464 LINC00464 NA 8812419 Standard NM_001243466 NM_178006 NA Approved GT650, DLC2, ARHGAP37 uc001uuw.3 Q9Y3M8 OTTHUMG00000016708 ENST00000336934.5:c.*1759T>G chr13.hg19:g.33677971A>C NA A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1 hg19 CCDS9348.1 0.02 9.106584 TTAxATT COVERED NOVEL STARD13-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276118.2 2 9.327946 KEEP 0 0 0 31 986 AA 0.999997 0.999997 0 - 11 60 419 0 0 27.905305 222 60 7943 294 ENST00000336934.5 0.04721 1 DCLK1 9201 __UNKNOWN__ __UNKNOWN__ 13 36345816 36345816 __UNKNOWN__ 3'UTR SNP C C T rs1045696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:36345816C>T ENST00000255448.4 - 0 5364 DCLK1_ENST00000360631.3_3'UTR|DCLK1_ENST00000379893.1_3'UTR NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 NA NA axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GGTCATGTGTCAGTAAAAGAA 0.358 NA C||| 814 0.16254 0.0825 0.1066 5008 , , NA 18101 0.3214 NA 0.1421 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002367 CCDS9354.1, CCDS55895.1, CCDS73561.1 13q13.3 2008-02-05 2007-04-02 2007-04-02 ENSG00000133083 ENSG00000133083 9201 2700 protein-coding gene gene with protein product 604742 doublecortin and CaM kinase-like 1 DCAMKL1 NA 9747029, 10036192 Standard NM_004734 NM_004734 NA Approved KIAA0369, DCLK, DCDC3A uc001uvf.3 O15075 OTTHUMG00000016729 ENST00000255448.4:c.*2963G>A chr13.hg19:g.36345816C>T NA B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1 hg19 CCDS9354.1 0.02 5.942486 TGTxAGT COVERED NOVEL DCLK1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044483.1 2 10.513296 KEEP 0 0 0 35 1193 CC 0.999999 0.999999 0 - 9 60 313 0 0 19.977141 176 60 6684 271 ENST00000255448.4 0.048649 1 DCLK1 9201 __UNKNOWN__ __UNKNOWN__ 13 36428595 36428595 __UNKNOWN__ Intron SNP C C T rs1926466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:36428595C>T ENST00000255448.4 - 6 1247 DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000460982.1_Intron|DCLK1_ENST00000379892.4_Intron NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 NA NA axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TGCACCAAGGCTGAGACAGGT 0.547 NA C||| 2398 0.478834 0.4433 0.5216 5008 , , NA 18554 0.63 NA 0.4264 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 C ,,, 2116,2290 573.8+/-383.6 519,1078,606 91 71 78 ,,, -2.1 0 13 dbSNP_92 78 3468,5132 506.1+/-376.5 705,2058,1537 no intron,intron,intron,intron DCLK1 NM_001195415.1,NM_001195416.1,NM_001195430.1,NM_004734.4 ,,, 1224,3136,2143 TT,TC,CC 40.3256,48.0254,42.934 ,,, ,,, 36428595 5584,7422 2203 4300 6503 SO:0001627 intron_variant AB002367 CCDS9354.1, CCDS55895.1, CCDS73561.1 13q13.3 2008-02-05 2007-04-02 2007-04-02 ENSG00000133083 ENSG00000133083 9201 2700 protein-coding gene gene with protein product 604742 doublecortin and CaM kinase-like 1 DCAMKL1 NA 9747029, 10036192 Standard NM_004734 NM_004734 NA Approved KIAA0369, DCLK, DCDC3A uc001uvf.3 O15075 OTTHUMG00000016729 ENST00000255448.4:c.1035+40G>A chr13.hg19:g.36428595C>T NA B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1 hg19 CCDS9354.1 0.02 3.654234 AGGxTGA COVERED NOVEL DCLK1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044483.1 0 3.611766 KEEP 0 0 0 12 429 CC 0.993634 0.993633 0 - 6 60 208 0 0 13.150329 122 60 4510 152 ENST00000255448.4 0.046875 1 DCLK1 9201 __UNKNOWN__ __UNKNOWN__ 13 36443324 36443324 __UNKNOWN__ Intron SNP G G A rs7986427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:36443324G>A ENST00000255448.4 - 5 1152 DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000379892.4_Intron NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 NA NA axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AGCTGGACAAGCTCAGTTCTT 0.453 NA G||| 1573 0.314097 0.4251 0.3775 5008 , , NA 20929 0.2421 NA 0.2475 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002367 CCDS9354.1, CCDS55895.1, CCDS73561.1 13q13.3 2008-02-05 2007-04-02 2007-04-02 ENSG00000133083 ENSG00000133083 9201 2700 protein-coding gene gene with protein product 604742 doublecortin and CaM kinase-like 1 DCAMKL1 NA 9747029, 10036192 Standard NM_004734 NM_004734 NA Approved KIAA0369, DCLK, DCDC3A uc001uvf.3 O15075 OTTHUMG00000016729 ENST00000255448.4:c.940+2036C>T chr13.hg19:g.36443324G>A NA B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1 hg19 CCDS9354.1 0.02 4.194038 CAAxCTC COVERED NOVEL DCLK1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044483.1 2 6.019627 KEEP 0 0 0 20 719 GG 0.999863 0.999857 0 - 5 60 180 0 0 11.517599 107 60 4070 166 ENST00000255448.4 0.044643 0.999995 SOHLH2 54937 __UNKNOWN__ __UNKNOWN__ 13 36744910 36744910 __UNKNOWN__ Missense_Mutation SNP C C T rs2296968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:36744910C>T ENST00000379881.3 - 10 1103 c.1015G>A c.(1015-1017)Gcc>Acc p.A339T SOHLH2_ENST00000554962.1_Missense_Mutation_p.A416T|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.A416T NM_017826.2 NP_060296.2 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic helix-loop-helix 2 339 NA A -> T (in dbSNP:rs2296968). multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) TTCTCTGAGGCGGAGCTTGAT 0.393 NA T||| 1317 0.262979 0.1324 0.3559 5008 , , NA 19622 0.4911 NA 0.1769 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 T THR/ALA,THR/ALA 663,3743 764.4+/-413.3 50,563,1590 100 98 99 1246,1015 -3.6 0 13 dbSNP_100 99 1693,6907 738.3+/-407.0 188,1317,2795 yes missense,missense SOHLH2,CCDC169-SOHLH2 NM_001198910.1,NM_017826.2 58,58 238,1880,4385 TT,TC,CC 19.686,15.0477,18.1147 benign,benign 416/503,339/426 36744910 2356,10650 2203 4300 6503 SO:0001583 missense AK000456 CCDS9355.1, CCDS61309.1 13q13.3 2013-05-21 ENSG00000120669 ENSG00000120669 54937 Basic helix-loop-helix proteins 26026 protein-coding gene gene with protein product spermatogenesis associated 28 NA 12477932 Standard NM_017826 NM_017826 NA Approved FLJ20449, TEB1, bHLHe81, SPATA28 Q9NX45 OTTHUMG00000016728 ENST00000379881.3:c.1015G>A chr13.hg19:g.36744910C>T ENSP00000369210:p.Ala339Thr NA B4DX90|Q5EGC3|Q8TC74|Q96QX4 hg19 CCDS9355.1 0.02 16.921899 AGGxGGA COVERED 609 0.27884615384615385 67 0.13617886178861788 112 0.30939226519337015 283 0.49475524475524474 147 0.19393139841688653 T 0.007 -1.961100 0.00465 0.150477 0.19686 ENSG00000120669;ENSG00000120669;ENSG00000250709 ENST00000379881;ENST00000554962;ENST00000511166 T;T;T 0.28255 1.62;1.62;1.62 5.14 -3.58 0.04597 . 0.813735 0.10856 N 0.626583 T 0.00012 0.0000 N 0.02315 -0.6 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.39418 -0.9615 9 0.02654 T 1 0.1824 8.8556 0.35225 0.0:0.5597:0.1434:0.2969 rs2296968;rs52824331;rs58809693;rs2296968 416;339 B4DX90;Q9NX45 .;SOLH2_HUMAN T 339;416;416 ENSP00000369210:A339T;ENSP00000451542:A416T;ENSP00000421868:A416T ENSP00000421868:A416T A - 1 0 CCDC169-SOHLH2;SOHLH2 35642910 0.178000 0.23122 0.045000 0.18777 0.017000 0.09413 -0.316000 0.08071 -1.047000 0.03242 -0.972000 0.02603 GCC NOVEL SOHLH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044477.2 2 12.007199 KEEP 0 2 66 63 2142 CC 1 1 0 - 13 60 475 0 0 28.541546 407 60 14041 591 ENST00000379881.3 0.030952 1 SPG20 23111 __UNKNOWN__ __UNKNOWN__ 13 36886469 36886469 __UNKNOWN__ Silent SNP T T C rs2274293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:36886469T>C ENST00000451493.1 - 7 1846 c.1629A>G c.(1627-1629)gcA>gcG p.A543A SPG20_ENST00000438666.2_Silent_p.A543A|SPG20_ENST00000494062.2_Silent_p.A543A|SPG20_ENST00000355182.4_Silent_p.A543A NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 543 NA abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881) cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202) ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) GAACACTACTTGCTGCTACAA 0.378 NA C||| 1448 0.289137 0.1384 0.3516 5008 , , NA 16360 0.5139 NA 0.2455 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 C ,,, 712,3694 759.3+/-412.9 51,610,1542 136 135 135 1629,1629,1629,1629 0.3 1 13 dbSNP_100 135 2215,6385 710.3+/-405.8 306,1603,2391 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous SPG20 NM_001142294.1,NM_001142295.1,NM_001142296.1,NM_015087.4 ,,, 357,2213,3933 CC,CT,TT 25.7558,16.1598,22.505 ,,, 543/667,543/667,543/667,543/667 36886469 2927,10079 2203 4300 6503 SO:0001819 synonymous_variant AB011182 CCDS9356.1 13q13.1 2008-07-04 2007-04-23 ENSG00000133104 ENSG00000133104 23111 18514 protein-coding gene gene with protein product spartin 607111 NA 6022528, 12134148 Standard NM_001142294 NA Approved KIAA0610, TAHCCP1 uc001uvm.3 Q8N0X7 OTTHUMG00000016730 ENST00000451493.1:c.1629A>G chr13.hg19:g.36886469T>C NA O60349|Q86Y67|Q9H1T2|Q9H1T3 hg19 CCDS9356.1 0.02 15.068312 ACTxGCT COVERED NOVEL SPG20-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044494.2 1 4.183645 KEEP 0 5 160 70 2198 TT 1 1 0 - 14 60 537 0 0 35.097695 323 60 11863 542 ENST00000451493.1 0.041543 1 SERTM1 400120 __UNKNOWN__ __UNKNOWN__ 13 37269675 37269675 __UNKNOWN__ 3'UTR SNP C C A rs9603083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:37269675C>A ENST00000315190.3 + 0 906 NM_203451.2 NP_982276.2 A2A2V5 SRTM1_HUMAN serine-rich and transmembrane domain containing 1 NA NA integral component of membrane (GO:0016021) NA TCTCTGATTTCTTTTCTGTTC 0.443 NA C||| 390 0.0778754 0.0983 0.0764 5008 , , NA 19806 0.126 NA 0.0557 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9358.1 13q13.3 2011-08-10 2011-08-10 2011-08-09 ENSG00000180440 ENSG00000180440 400120 33792 protein-coding gene gene with protein product chromosome 13 open reading frame 36 C13orf36 NA Standard NM_203451 NM_203451 NA Approved uc001uvt.4 A2A2V5 OTTHUMG00000016735 ENST00000315190.3:c.*136C>A chr13.hg19:g.37269675C>A NA Q8N469 hg19 CCDS9358.1 0.02 10.629788 TTTxTTT COVERED NOVEL SERTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044518.2 2 6.018583 KEEP 0 0 0 20 670 CC 0.999863 0.999863 0 + 8 60 299 0 0 18.318654 244 60 9129 284 ENST00000315190.3 0.031746 1 SMAD9 4093 __UNKNOWN__ __UNKNOWN__ 13 37420777 37420777 __UNKNOWN__ 3'UTR SNP G G T rs4943429 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:37420777G>T ENST00000350148.5 - 0 3637 SMAD9_ENST00000399275.2_3'UTR|SMAD9_ENST00000379826.4_3'UTR NM_005905.5 NP_005896.1 O15198 SMAD9_HUMAN SMAD family member 9 NA NA BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657) cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) TAAGAAAAGGGGACATGGAGA 0.373 NA G||| 606 0.121006 0.0189 0.1167 5008 , , NA 16620 0.3214 NA 0.0656 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9360.1, CCDS45032.1 13q12-q14 2014-09-17 2006-11-06 2004-05-26 ENSG00000120693 ENSG00000120693 4093 SMADs 6774 protein-coding gene gene with protein product 603295 MAD, mothers against decapentaplegic homolog 9 (Drosophila), SMAD, mothers against DPP homolog 9 (Drosophila) MADH6, MADH9 NA 9205116 Standard NM_005905 NM_001127217 NA Approved uc001uvw.3 O15198 OTTHUMG00000016740 ENST00000350148.5:c.*2036C>A chr13.hg19:g.37420777G>T NA A2A2Y6|O14989|Q5TBA1 hg19 CCDS9360.1 0.02 4.027861 AGGxGAC COVERED NOVEL SMAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044526.2 2 9.02837 KEEP 0 0 0 30 1021 GG 0.999997 0.999997 0 - 9 60 302 0 0 20.268008 122 60 4298 183 ENST00000350148.5 0.068702 1 SMAD9 4093 __UNKNOWN__ __UNKNOWN__ 13 37421434 37421434 __UNKNOWN__ 3'UTR SNP C C A rs4943430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:37421434C>A ENST00000350148.5 - 0 2980 SMAD9_ENST00000399275.2_3'UTR|SMAD9_ENST00000379826.4_3'UTR NM_005905.5 NP_005896.1 O15198 SMAD9_HUMAN SMAD family member 9 NA NA BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657) cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) ACAAGCATAACTGCCATCTTA 0.328 NA C||| 669 0.133586 0.0575 0.1297 5008 , , NA 17091 0.3214 NA 0.0696 False NA ,,, NA NA NA 2504 0.1115 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9360.1, CCDS45032.1 13q12-q14 2014-09-17 2006-11-06 2004-05-26 ENSG00000120693 ENSG00000120693 4093 SMADs 6774 protein-coding gene gene with protein product 603295 MAD, mothers against decapentaplegic homolog 9 (Drosophila), SMAD, mothers against DPP homolog 9 (Drosophila) MADH6, MADH9 NA 9205116 Standard NM_005905 NM_001127217 NA Approved uc001uvw.3 O15198 OTTHUMG00000016740 ENST00000350148.5:c.*1379G>T chr13.hg19:g.37421434C>A NA A2A2Y6|O14989|Q5TBA1 hg19 CCDS9360.1 0.02 10.294996 TAAxTGC COVERED NOVEL SMAD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044526.2 3 14.748767 KEEP 0 0 0 49 1795 CC 1 1 0 - 11 60 392 0 0 24.749865 245 60 9411 382 ENST00000350148.5 0.042969 1 POSTN 10631 __UNKNOWN__ __UNKNOWN__ 13 38143586 38143586 __UNKNOWN__ Intron SNP G G A rs9603226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:38143586G>A ENST00000379747.4 - 21 2465 POSTN_ENST00000497145.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000541179.1_Intron NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor NA NA cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888) proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802) heparin binding (GO:0008201) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CAGACTTTATGTCATAAATAA 0.338 NA G||| 969 0.19349 0.1672 0.1671 5008 , , NA 16628 0.3433 NA 0.1322 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13665 CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1 13q13.3 2008-02-05 ENSG00000133110 ENSG00000133110 10631 16953 protein-coding gene gene with protein product 608777 NA 8363580, 12235007 Standard NM_006475 NM_006475 NA Approved OSF-2, PN, periostin uc001uwo.4 Q15063 OTTHUMG00000016751 ENST00000379747.4:c.2348-66C>T chr13.hg19:g.38143586G>A NA B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9 hg19 CCDS9364.1 0.02 4.037914 TATxTCA COVERED NOVEL POSTN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044566.2 0 4.213769 KEEP 0 0 0 14 499 GG 0.995343 0.995332 0 - 5 60 180 0 0 11.617532 102 60 3799 135 ENST00000379747.4 0.046729 0.999989 TRPC4 7223 __UNKNOWN__ __UNKNOWN__ 13 38210931 38210931 __UNKNOWN__ 3'UTR SNP C C T rs10161932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:38210931C>T ENST00000379705.3 - 0 3900 TRPC4_ENST00000379681.3_3'UTR|TRPC4_ENST00000338947.5_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 NA NA axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886) beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGCTGATAAACGCTATAAAGT 0.368 NA C||| 1638 0.327077 0.1853 0.2997 5008 , , NA 19473 0.6716 NA 0.2018 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U40983 CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1 13q13.3 2013-01-10 ENSG00000133107 ENSG00000133107 7223 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 12336 protein-coding gene gene with protein product 603651 NA 8646775, 16382100 Standard NM_003306 NM_016179 NA Approved HTRP4, TRP4 uc010abx.3 Q9UBN4 OTTHUMG00000016752 ENST00000379705.3:c.*109G>A chr13.hg19:g.38210931C>T NA B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2 hg19 CCDS9365.1 0.02 4.492834 AAAxGCT COVERED NOVEL TRPC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044574.2 1 5.718104 KEEP 0 0 0 19 645 CC 0.99986 0.999854 0 - 6 60 227 0 0 15.404339 106 60 3665 150 ENST00000379705.3 0.053571 0.999995 FOXO1 2308 __UNKNOWN__ __UNKNOWN__ 13 41195411 41195411 __UNKNOWN__ Intron SNP G G A rs12583418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:41195411G>A ENST00000379561.5 - 1 1015 NM_002015.3 NP_002006.2 Q12778 FOXO1_HUMAN forkhead box O1 NA NA apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625) PAX7/FOXO1(197)|PAX3/FOXO1(749) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 20 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TGTACTGACCGATGGCTCTCA 0.413 NA G||| 2606 0.520367 0.59 0.4063 5008 , , NA 17814 0.7371 NA 0.3241 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9371.1 13q14.1 2011-08-01 2007-05-02 2007-05-02 ENSG00000150907 ENSG00000150907 2308 Forkhead boxes 3819 protein-coding gene gene with protein product 136533 forkhead homolog in rhabdomyosarcoma FKHR, FOXO1A NA 8275086, 15057823 Standard NM_002015 NM_002015 NA Approved FKH1 uc001uxl.4 Q12778 OTTHUMG00000016775 ENST00000379561.5:c.630+44308C>T chr13.hg19:g.41195411G>A NA O43523|Q5VYC7|Q6NSK6 hg19 CCDS9371.1 0.02 13.524512 ACCxATG COVERED NOVEL FOXO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044634.3 5 23.773498 KEEP 0 0 0 79 2608 GG 1 1 0 - 16 60 603 0 0 40.117503 315 60 10784 484 ENST00000379561.5 0.048338 1 KBTBD7 84078 __UNKNOWN__ __UNKNOWN__ 13 41764583 41764583 __UNKNOWN__ 3'UTR SNP G G A rs183182426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:41764583G>A ENST00000379483.3 - 0 4119 NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 NA NA central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) TTTCCTTTTCGTTCAAAAATT 0.358 NA G||| 16 0.00319489 0.0 0.0 5008 , , NA 19398 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136782 CCDS9377.1 13q13.3 2013-01-08 ENSG00000120696 ENSG00000120696 84078 BTB/POZ domain containing 25266 protein-coding gene gene with protein product NA 11230166 Standard NM_032138 NM_032138 NA Approved DKFZP434E2318 uc001uxw.1 Q8WVZ9 OTTHUMG00000016789 ENST00000379483.3:c.*1756C>T chr13.hg19:g.41764583G>A NA B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6 hg19 CCDS9377.1 0.02 11.052135 TTCxTTC COVERED NOVEL KBTBD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044660.1 1 16.251801 KEEP 0 0 0 54 1834 GG 1 1 0 - 13 60 486 0 0 31.669122 282 60 9704 415 ENST00000379483.3 0.044068 1 MTRF1 9617 __UNKNOWN__ __UNKNOWN__ 13 41791440 41791440 __UNKNOWN__ Intron SNP T T A rs2274903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:41791440T>A ENST00000379480.4 - 10 1325 MTRF1_ENST00000430347.2_Intron|MTRF1_ENST00000379477.1_Intron NM_004294.2 NP_004285.2 O75570 RF1M_HUMAN mitochondrial translational release factor 1 NA NA regulation of translational termination (GO:0006449) mitochondrion (GO:0005739) translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149) breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) ATTTATTTAATTTCTTTGCAG 0.318 NA T||| 2592 0.517572 0.3283 0.6484 5008 , , NA 15239 0.5208 NA 0.5805 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF072934 CCDS9378.1 13q14.1-q14.3 2008-07-18 ENSG00000120662 ENSG00000120662 9617 7469 protein-coding gene gene with protein product mitochontrial peptide chain release factor 1 604601 NA 9838146, 10773675 Standard NM_004294 NM_004294 NA Approved RF1, MTTRF1, MGC47721 uc001uxy.3 O75570 OTTHUMG00000016790 ENST00000379480.4:c.1225-76A>T chr13.hg19:g.41791440T>A NA B4DG01|Q5T6Y5|Q8IUQ6 hg19 CCDS9378.1 0.02 2.417106 TAAxTTC COVERED NOVEL MTRF1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044666.3 1 2.707753 KEEP 0 0 0 9 282 TT 0.99254 0.98629 0 - 4 60 156 0 0 10.983681 61 60 2146 74 ENST00000379480.4 0.061538 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 42005432 42005432 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:42005432C>T NA NA NAA16 (54266 upstream) : AL354833.1 (13994 downstream) NA NA NA CGCAGGACACCTTTAATATCC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.42005432C>T NA hg19 0.02 -0.263133 CACxTTT COVERED NOVEL 0 0 2.407677 KEEP 2 0 0 8 288 CC 0.99257 0.688515 0 7 40 243 0 0 20.562897 23 60 854 51 0.233333 0.693668 DGKH 160851 __UNKNOWN__ __UNKNOWN__ 13 42642810 42642810 __UNKNOWN__ Intron SNP C C T rs9315885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:42642810C>T ENST00000337343.4 + 1 213 DGKH_ENST00000540693.1_Intron|DGKH_ENST00000379274.2_Intron|DGKH_ENST00000261491.5_Intron NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GGATGGTCTTCACTTGTCTTA 0.323 NA T||| 2931 0.585264 0.5401 0.5677 5008 , , NA 19375 0.5486 NA 0.6461 False NA ,,, NA NA NA 2504 0.6339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2854 protein-coding gene gene with protein product 604071 NA 8702685 Standard NM_178009 XM_005266271 NA Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.192+19709C>T chr13.hg19:g.42642810C>T NA A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 hg19 CCDS9381.1 0.02 3.897691 CTTxACT COVERED NOVEL DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044699.2 0 4.34886 KEEP 0 1 33 26 872 CC 0.999988 0.999987 0 + 6 60 211 0 0 13.557283 117 60 4381 163 ENST00000337343.4 0.04878 0.999999 DGKH 160851 __UNKNOWN__ __UNKNOWN__ 13 42645358 42645358 __UNKNOWN__ Intron SNP A A G rs12427854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:42645358A>G ENST00000337343.4 + 1 213 DGKH_ENST00000540693.1_Intron|DGKH_ENST00000379274.2_Intron|DGKH_ENST00000261491.5_Intron NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CCACAGCAAGATGGTTTCTTG 0.353 NA A||| 2934 0.585863 0.5408 0.5677 5008 , , NA 20821 0.5486 NA 0.6461 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2854 protein-coding gene gene with protein product 604071 NA 8702685 Standard NM_178009 XM_005266271 NA Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.192+22257A>G chr13.hg19:g.42645358A>G NA A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 hg19 CCDS9381.1 0.02 4.061837 AAGxTGG COVERED NOVEL DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044699.2 3 5.115188 KEEP 0 0 0 17 526 AA 0.999366 0.999366 0 + 5 60 184 0 0 11.636883 122 60 4415 146 ENST00000337343.4 0.03937 1 DGKH 160851 __UNKNOWN__ __UNKNOWN__ 13 42772717 42772717 __UNKNOWN__ Silent SNP G G T rs9533031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:42772717G>T ENST00000337343.4 + 18 2292 c.2271G>T c.(2269-2271)ccG>ccT p.P757P DGKH_ENST00000540693.1_Silent_p.P757P|DGKH_ENST00000379274.2_Silent_p.P621P|DGKH_ENST00000536612.1_Silent_p.P621P|DGKH_ENST00000538674.1_Silent_p.P512P|DGKH_ENST00000261491.5_Silent_p.P757P|DGKH_ENST00000498255.2_3'UTR NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 757 NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTATTGACCCGGATCTAGATT 0.358 NA G||| 2012 0.401757 0.3608 0.3876 5008 , , NA 18660 0.3492 NA 0.5606 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 G ,,,, 1816,2590 530.9+/-373.1 359,1098,746 135 126 129 2271,1863,1863,2271,2271 -9.1 0.7 13 dbSNP_119 129 4923,3677 621.5+/-397.2 1412,2099,789 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DGKH NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3 ,,,, 1771,3197,1535 TT,TG,GG 42.7558,41.2165,48.1855 ,,,, 757/1165,621/1101,621/1085,757/1165,757/1221 42772717 6739,6267 2203 4300 6503 SO:0001819 synonymous_variant AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2854 protein-coding gene gene with protein product 604071 NA 8702685 Standard NM_178009 XM_005266271 NA Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.2271G>T chr13.hg19:g.42772717G>T NA A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 hg19 CCDS9381.1 0.02 10.671035 CCCxGAT COVERED NOVEL DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044699.2 4 11.908259 KEEP 0 2 64 62 2125 GG 1 1 0 + 8 60 298 0 0 17.98903 261 70 9326 424 ENST00000337343.4 0.02974 1 DGKH 160851 __UNKNOWN__ __UNKNOWN__ 13 42793479 42793479 __UNKNOWN__ Silent SNP G G A rs180870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:42793479G>A ENST00000337343.4 + 27 3348 c.3327G>A c.(3325-3327)gaG>gaA p.E1109E DGKH_ENST00000540693.1_Silent_p.E1109E|DGKH_ENST00000379274.2_Silent_p.E973E|DGKH_ENST00000536612.1_Silent_p.E973E|DGKH_ENST00000538674.1_Silent_p.E864E|DGKH_ENST00000261491.5_Silent_p.E1109E|DGKH_ENST00000498255.2_3'UTR NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 1109 NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) ACCCAAATGAGGATGAGGTAT 0.363 NA G||| 3139 0.626797 0.5976 0.634 5008 , , NA 17423 0.7341 NA 0.6879 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 G ,,,, 2711,1695 653.5+/-399.6 836,1039,328 130 137 135 3327,2919,2919,3327,3327 1 1 13 dbSNP_79 135 5877,2723 680.7+/-403.7 2021,1835,444 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DGKH NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3 ,,,, 2857,2874,772 AA,AG,GG 31.6628,38.4703,33.9689 ,,,, 1109/1165,973/1101,973/1085,1109/1165,1109/1221 42793479 8588,4418 2203 4300 6503 SO:0001819 synonymous_variant AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2854 protein-coding gene gene with protein product 604071 NA 8702685 Standard NM_178009 XM_005266271 NA Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.3327G>A chr13.hg19:g.42793479G>A NA A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 hg19 CCDS9381.1 0.02 9.052676 TGAxGAT COVERED NOVEL DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044699.2 1 7.524391 KEEP 0 0 0 25 876 GG 0.999931 0.999931 0 + 12 60 440 0 0 29.885386 193 60 6922 255 ENST00000337343.4 0.058537 1 DGKH 160851 __UNKNOWN__ __UNKNOWN__ 13 42794004 42794004 __UNKNOWN__ Intron SNP G G A rs347382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:42794004G>A ENST00000337343.4 + 28 3463 DGKH_ENST00000540693.1_Intron|DGKH_ENST00000379274.2_Intron|DGKH_ENST00000536612.1_Intron|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000261491.5_Intron|DGKH_ENST00000498255.2_Intron NM_178009.3 NP_821077.1 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259) cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) CATGGAGGTCGtgaaaatgtt 0.383 NA A||| 4048 0.808307 0.671 0.9107 5008 , , NA 20598 0.9167 NA 0.8519 False NA ,,, NA NA NA 2504 0.7648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB078967 CCDS9381.1, CCDS9382.1, CCDS55898.1 13q13.3 2013-01-10 ENSG00000102780 ENSG00000102780 160851 Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing 2854 protein-coding gene gene with protein product 604071 NA 8702685 Standard NM_178009 XM_005266271 NA Approved DGKeta uc001uyl.2 Q86XP1 OTTHUMG00000016804 ENST00000337343.4:c.3442+74G>A chr13.hg19:g.42794004G>A NA A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9 hg19 CCDS9381.1 0.02 12.671585 GTCxTGA COVERED NOVEL DGKH-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044699.2 3 8.059672 KEEP 0 1 20 34 1177 GG 0.999999 0.999999 0 + 11 60 396 0 0 24.33165 292 60 10506 392 ENST00000337343.4 0.036304 1 FAM216B 144809 __UNKNOWN__ __UNKNOWN__ 13 43358176 43358176 __UNKNOWN__ Intron SNP G G A rs1324422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:43358176G>A ENST00000537894.1 + 2 115 FAM216B_ENST00000313851.1_Intron NM_182508.2 NP_872314.1 Q8N7L0 F216B_HUMAN family with sequence similarity 216, member B NA NA NA GCTATGCTTTGTTGTTTCTTG 0.323 NA G||| 1037 0.207069 0.0545 0.2233 5008 , , NA 15334 0.3204 NA 0.1859 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 G 312,4094 168.0+/-198.9 7,298,1898 79 81 80 2.4 0.9 13 dbSNP_88 80 1692,6908 309.6+/-309.4 160,1372,2768 no intron C13orf30 NM_182508.2 167,1670,4666 AA,AG,GG 19.6744,7.0813,15.4083 43358176 2004,11002 2203 4300 6503 SO:0001627 intron_variant AK098238 CCDS9386.1 13q14.11 2012-02-07 2012-02-07 2012-02-07 ENSG00000179813 ENSG00000179813 144809 26883 protein-coding gene gene with protein product chromosome 13 open reading frame 30 C13orf30 NA Standard NM_182508 NM_182508 NA Approved FLJ40919 uc010tfk.2 Q8N7L0 OTTHUMG00000016809 ENST00000537894.1:c.-8-20G>A chr13.hg19:g.43358176G>A NA B1ALI3 hg19 CCDS9386.1 0.02 17.857969 TTTxTTG COVERED NOVEL FAM216B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044705.2 2 17.227639 KEEP 0 2 65 80 2914 GG 1 1 0 + 14 60 487 0 0 27.903689 469 60 18002 692 ENST00000537894.1 0.028986 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 43442369 43442369 __UNKNOWN__ IGR SNP T T C rs12018890|rs57691466 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:43442369T>C NA NA LINC00428 (25346 upstream) : EPSTI1 (18154 downstream) NA NA NA ggggtgctttttgagccagga 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.43442369T>C NA hg19 0.02 -0.061413 TTTxTGA UNCOVERED NOVEL 0 2 2.708338 KEEP 10 0 0 9 288 TT 0 0 0 4 40 156 0 0 15.432365 3 30 107 25 0.571429 0.043787 EPSTI1 94240 __UNKNOWN__ __UNKNOWN__ 13 43462422 43462422 __UNKNOWN__ 3'UTR SNP A A T rs1044856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:43462422A>T ENST00000313624.7 - 0 1215 EPSTI1_ENST00000313640.7_Missense_Mutation_p.N399K NM_033255.3 NP_150280.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) NA NA endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) GGCAGTAGAGATTAAATATGA 0.423 NA A||| 788 0.157348 0.0182 0.2003 5008 , , NA 17038 0.126 NA 0.3419 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 A LYS/ASN, 290,4116 159.2+/-191.8 15,260,1928 87 87 87 1197, -0.1 0 13 dbSNP_86 87 2934,5666 456.7+/-364.1 503,1928,1869 yes missense,utr-3 EPSTI1 NM_001002264.1,NM_033255.2 94, 518,2188,3797 TT,TA,AA 34.1163,6.5819,24.7886 probably-damaging, 399/411, 43462422 3224,9782 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF396928 CCDS9387.1, CCDS31964.1 13q13.3 2011-06-27 ENSG00000133106 ENSG00000133106 94240 16465 protein-coding gene gene with protein product epithelial stromal interaction protein 1 607441 NA 11991720 Standard NM_001002264 NM_033255 NA Approved BRESI1, MGC29634 uc001uyw.2 Q96J88 OTTHUMG00000016814 ENST00000313624.7:c.*208T>A chr13.hg19:g.43462422A>T NA Q8IVC7|Q8NDQ7 hg19 CCDS9387.1 0.02 26.149999 GAGxTTA COVERED 407 0.18635531135531136 12 0.024390243902439025 82 0.2265193370165746 62 0.10839160839160839 251 0.3311345646437995 A 16.66 3.184624 0.57909 0.065819 0.341163 ENSG00000133106 ENST00000313640 . . . 5.2 -0.0576 0.13800 . 0.505521 0.16647 N 0.205374 T 0.00012 0.0000 . . . 0.09310 P 0.99999999421063 D 0.63046 0.992 P 0.60541 0.876 T 0.15780 -1.0425 7 0.87932 D 0 -3.571 7.6816 0.28518 0.621:0.0:0.379:0.0 rs1044856;rs3184675;rs56461472;rs1044856 399 Q96J88-3 . K 399 . ENSP00000318982:N399K N - 3 2 EPSTI1 42360422 1.000000 0.71417 0.028000 0.17463 0.596000 0.36781 1.479000 0.35453 -0.144000 0.11314 0.533000 0.62120 AAT NOVEL EPSTI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044711.3 9 18.489674 KEEP 0 1 30 72 2296 AA 1 1 0 - 21 60 751 1 0 44.399869 663 70 23866 872 ENST00000313624.7 0.030702 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 44543526 44543526 __UNKNOWN__ IGR SNP C C A rs146178092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:44543526C>A NA NA LACC1 (75458 upstream) : LINC00284 (55928 downstream) NA NA NA GTATCTCAATCCCCGACAAGT 0.617 NA -||| 1458 0.291134 0.177 0.4006 5008 , , NA 16934 0.4583 NA 0.2913 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.44543526C>A NA hg19 0.02 5.681094 AATxCCC COVERED NOVEL 0 0 13.542555 KEEP 0 0 0 45 1561 CC 1 1 0 7 60 238 0 0 14.104331 185 60 6856 302 0.036458 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 44543675 44543675 __UNKNOWN__ IGR SNP G G A rs112866840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:44543675G>A NA NA LACC1 (75607 upstream) : LINC00284 (55779 downstream) NA NA NA GCCTGAAGCCGCCACCCCCTG 0.647 NA -||| 1458 0.291134 0.177 0.4006 5008 , , NA 15833 0.4583 NA 0.2913 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.44543675G>A NA hg19 0.02 4.400045 GCCxCCA COVERED NOVEL 0 1 9.328071 KEEP 2 0 0 31 1040 GG 0.999997 0.999965 0 5 60 178 0 0 11.573311 95 60 3330 161 0.05 0.999968 SMIM2 79024 __UNKNOWN__ __UNKNOWN__ 13 44734696 44734696 __UNKNOWN__ Intron SNP A A G rs4942287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:44734696A>G ENST00000400419.1 - 2 442 SMIM2-AS1_ENST00000437867.1_RNA NM_024058.2 NP_076963.1 Q9BVW6 SMIM2_HUMAN small integral membrane protein 2 NA NA integral component of membrane (GO:0016021) NA AAGTGGTTCTATTAAAATAGC 0.418 NA A||| 1188 0.23722 0.112 0.17 5008 , , NA 21371 0.5863 NA 0.173 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC000868 CCDS61320.1 13q14.11 2012-07-11 2012-07-11 2012-07-11 ENSG00000139656 ENSG00000139656 79024 28776 protein-coding gene gene with protein product chromosome 13 open reading frame 44 C13orf44 NA 12477932 Standard NM_024058 NA Approved MGC5590 Q9BVW6 OTTHUMG00000016831 ENST00000400419.1:c.253+42T>C chr13.hg19:g.44734696A>G NA Q5SZS7 hg19 0.02 4.46784 TCTxTTA COVERED NOVEL SMIM2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000044734.2 1 15.648228 KEEP 0 0 0 52 1655 AA 1 1 0 - 10 60 383 0 0 27.148822 139 60 5011 257 ENST00000400419.1 0.067114 1 FAM194B 0 __UNKNOWN__ __UNKNOWN__ 13 46170621 46170621 __UNKNOWN__ Missense_Mutation SNP A A T rs17066954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:46170621A>T ENST00000298738.2 - 3 684 c.520T>A c.(520-522)Tca>Aca p.S174T NM_182542.2 NP_872348.2 Q5W0A0 ERI6B_HUMAN 174 Glu-rich. NA S -> T (in dbSNP:rs17066954). breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1) 5 TCTAGATATGATTTCTTCCCC 0.448 NA T||| 896 0.178914 0.1679 0.1974 5008 , , NA 21174 0.3204 NA 0.0815 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 A THR/SER 215,1169 20,175,497 107 85 92 520 -2.2 0 13 dbSNP_123 92 208,2974 5,198,1388 yes missense FAM194B NM_182542.2 58 25,373,1885 TT,TA,AA 6.5368,15.5347,9.2641 possibly-damaging 174/697 46170621 423,4143 692 1591 2283 SO:0001583 missense NA NA NA NA ENST00000298738.2:c.520T>A chr13.hg19:g.46170621A>T ENSP00000298738:p.Ser174Thr NA Q96MB5 hg19 CCDS45045.1 0.02 14.485068 ATGxTTT COVERED 408 0.18681318681318682 95 0.19308943089430894 66 0.18232044198895028 185 0.32342657342657344 62 0.08179419525065963 a 0.032 -1.326941 0.01309 0.155347 0.065368 ENSG00000165837 ENST00000298738 T 0.05996 3.36 1.08 -2.15 0.07102 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;B 0.12013 0.005;0.005 B;B 0.08055 0.003;0.003 T 0.48547 -0.9026 8 0.87932 D 0 . 0.5496 0.00660 0.376:0.2694:0.1804:0.1743 rs17066954;rs17066954 174;174 A2VDI6;Q5W0A0 .;F194B_HUMAN T 174 ENSP00000298738:S174T ENSP00000298738:S174T S - 1 0 FAM194B 45068622 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.601000 0.00892 -2.071000 0.00880 -1.433000 0.01084 TCA NOVEL FAM194B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044781.3 5 17.453247 KEEP 0 0 0 58 1869 AA 1 1 0 - 17 60 605 0 0 38.49668 362 60 13024 537 ENST00000298738.2 0.044855 1 SIAH3 283514 __UNKNOWN__ __UNKNOWN__ 13 46425851 46425851 __UNKNOWN__ 5'UTR SNP C C T rs9567585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:46425851C>T ENST00000400405.2 - 0 20 NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 NA NA multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634) metal ion binding (GO:0046872) large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GCCTCTGAGACACTCCGCTCC 0.532 NA C||| 139 0.0277556 0.0008 0.0259 5008 , , NA 16916 0.0784 NA 0.0089 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS41883.1 13q14.12 2012-02-23 2012-02-23 ENSG00000215475 ENSG00000215475 283514 30553 protein-coding gene gene with protein product 615609 seven in absentia homolog 3 (Drosophila) NA 12477932 Standard NM_198849 NM_198849 NA Approved FLJ39203 uc001vap.3 Q8IW03 OTTHUMG00000016862 ENST00000400405.2:c.-87G>A chr13.hg19:g.46425851C>T NA B7ZBP0|Q8N8M6 hg19 CCDS41883.1 0.02 6.429077 AGAxACT COVERED NOVEL SIAH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044788.2 0 3.610809 KEEP 0 0 0 12 406 CC 0.993634 0.993634 0 - 10 60 342 0 0 22.342019 165 60 6050 220 ENST00000400405.2 0.057143 1 LCP1 3936 __UNKNOWN__ __UNKNOWN__ 13 46728924 46728924 __UNKNOWN__ Intron SNP C C T rs2296122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:46728924C>T ENST00000398576.2 - 9 962 LCP1_ENST00000323076.2_Intron P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) NA NA actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286) actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726) actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509) breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) ATTATGGTAACGGTGGGAAGA 0.433 NA T BCL6 NHL T||| 2712 0.541534 0.5643 0.5259 5008 , , NA 19830 0.4722 NA 0.4871 False NA ,,, NA NA NA 2504 0.6493 NA NA NA Dom yes 13 13q14.1-q14.3 3936 lymphocyte cytosolic protein 1 (L-plastin) L 0 T 2360,2046 566.5+/-381.9 630,1100,473 274 244 254 -8.4 0 13 dbSNP_100 254 4150,4450 587.6+/-392.2 956,2238,1106 no intron LCP1 NM_002298.4 1586,3338,1579 TT,TC,CC 48.2558,46.4367,49.9462 46728924 6510,6496 2203 4300 6503 SO:0001627 intron_variant M22300 CCDS9403.1 13q14.3 2013-01-10 ENSG00000136167 ENSG00000136167 3936 EF-hand domain containing 6528 protein-coding gene gene with protein product plastin 2 153430 NA 2111166 Standard NM_002298 NM_002298 NA Approved PLS2, CP64, L-PLASTIN, LC64P uc001vba.4 P13796 OTTHUMG00000016864 ENST00000398576.2:c.573+15G>A chr13.hg19:g.46728924C>T NA B2R613|B4DUA0|Q5TBN4 hg19 CCDS9403.1 0.02 13.05058 TAAxGGT COVERED NOVEL LCP1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044800.3 1 16.852869 KEEP 0 0 0 56 1925 CC 1 1 0 - 12 60 439 0 0 27.295482 316 60 11361 495 ENST00000398576.2 0.036585 1 KIAA0226L 80183 __UNKNOWN__ __UNKNOWN__ 13 46928845 46928845 __UNKNOWN__ Intron SNP C C T rs4942515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:46928845C>T ENST00000409879.2 - 10 1920 KIAA0226L_ENST00000389908.3_Intron|KIAA0226L_ENST00000378781.3_Intron|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000429979.1_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000378797.2_Intron Q9H714 K226L_HUMAN KIAA0226-like NA NA NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 GTAAATCCCACGGCACTCTTG 0.448 NA c||| 841 0.167931 0.261 0.1066 5008 , , NA 21161 0.3403 NA 0.0109 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025215 CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1 13q14.11 2011-08-09 2011-08-09 2011-08-09 ENSG00000102445 ENSG00000102445 80183 20420 protein-coding gene gene with protein product chromosome 13 open reading frame 18 C13orf18 NA Standard NM_025113 NM_001286766 NA Approved FLJ21562 uc010acl.3 Q9H714 OTTHUMG00000016868 ENST00000409879.2:c.859+1721G>A chr13.hg19:g.46928845C>T NA A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6 hg19 0.02 8.710403 CCAxGGC COVERED NOVEL KIAA0226L-012 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000335435.2 1 12.339108 KEEP 0 0 0 41 1422 CC 1 1 0 - 7 60 262 0 0 15.755107 237 60 8719 343 ENST00000409879.2 0.028689 1 LRCH1 23143 __UNKNOWN__ __UNKNOWN__ 13 47325150 47325150 __UNKNOWN__ 3'UTR SNP G G A rs4942574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:47325150G>A ENST00000311191.6 + 0 2685 NM_001164213.1 NP_001157685 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 NA NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) AACCAAACTCGTTATGTATTT 0.433 NA A||| 3526 0.704073 0.767 0.5692 5008 , , NA 13656 0.6617 NA 0.7744 False NA ,,, NA NA NA 2504 0.6861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023233 CCDS31972.1, CCDS53865.1, CCDS53866.1 13q14.11 2008-02-05 2004-05-27 2004-05-28 ENSG00000136141 ENSG00000136141 23143 20309 protein-coding gene gene with protein product 610368 calponin homology (CH) domain containing 1 CHDC1 NA 10231032 Standard NM_015116 NM_015116 NA Approved KIAA1016 uc001vbk.3 Q9Y2L9 OTTHUMG00000016877 ENST00000311191.6:c.*365G>A chr13.hg19:g.47325150G>A NA B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7 hg19 CCDS53866.1 0.02 6.468929 CTCxTTA COVERED NOVEL LRCH1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000044825.3 0 15.583782 KEEP 0 1 32 63 2159 GG 1 1 0 + 9 60 324 0 0 21.679927 150 60 5419 310 ENST00000311191.6 0.056604 1 LRCH1 23143 __UNKNOWN__ __UNKNOWN__ 13 47325380 47325380 __UNKNOWN__ 3'UTR SNP G G A rs1045945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:47325380G>A ENST00000311191.6 + 0 2915 NM_001164213.1 NP_001157685 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 1 NA NA breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) TAATATAAATGTTGAGTTATT 0.289 NA A||| 2244 0.448083 0.4773 0.562 5008 , , NA 14120 0.3948 NA 0.4414 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023233 CCDS31972.1, CCDS53865.1, CCDS53866.1 13q14.11 2008-02-05 2004-05-27 2004-05-28 ENSG00000136141 ENSG00000136141 23143 20309 protein-coding gene gene with protein product 610368 calponin homology (CH) domain containing 1 CHDC1 NA 10231032 Standard NM_015116 NM_015116 NA Approved KIAA1016 uc001vbk.3 Q9Y2L9 OTTHUMG00000016877 ENST00000311191.6:c.*595G>A chr13.hg19:g.47325380G>A NA B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7 hg19 CCDS53866.1 0.02 3.575246 AATxTTG COVERED NOVEL LRCH1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000044825.3 2 12.640527 KEEP 0 0 0 42 1471 GG 1 1 0 + 7 60 236 0 0 14.947705 130 60 4962 217 ENST00000311191.6 0.051095 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 48671081 48671081 __UNKNOWN__ IGR SNP A A G rs1571256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:48671081A>G NA NA MED4 (1814 upstream) : ITM2B (136212 downstream) NA NA NA TACTCTAGTCAATCATTTCTT 0.393 NA A||| 2262 0.451677 0.112 0.5346 5008 , , NA 21424 0.5754 NA 0.662 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 A 374,1378 39,296,541 49 45 46 3.5 0 13 dbSNP_88 46 2584,1398 838,908,245 yes near-gene-5 877,1204,786 GG,GA,AA 35.108,21.347,48.413 48671081 2958,2776 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.48671081A>G NA hg19 0.02 13.803101 GTCxATC COVERED NOVEL 0 2 27.680472 KEEP 0 0 0 92 2850 AA 1 1 0 15 60 504 0 0 30.226174 363 60 13358 548 0.039683 1 RCBTB2 1102 __UNKNOWN__ __UNKNOWN__ 13 49107090 49107090 __UNKNOWN__ Intron SNP G G T rs180691951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:49107090G>T ENST00000344532.3 - 1 206 RCBTB2_ENST00000544904.1_Intron|RCBTB2_ENST00000481144.1_Intron|RCBTB2_ENST00000430805.2_Intron|RCBTB2_ENST00000544492.1_Intron NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 NA NA positive regulation of Ran GTPase activity (GO:0032853) acrosomal vesicle (GO:0001669) Ran guanyl-nucleotide exchange factor activity (GO:0005087) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GCCTGCCCCAGTGGTACCTGA 0.721 NA G||| 15 0.00299521 0.0 0.0 5008 , , NA 11367 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF060219 CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1 13q14.3 2013-01-08 2005-05-09 2005-05-09 ENSG00000136161 ENSG00000136161 1102 BTB/POZ domain containing 1914 protein-coding gene gene with protein product 603524 chromosome condensation 1-like CHC1L NA 9806834 Standard NM_001268 XM_005266242 NA Approved uc001vch.3 O95199 OTTHUMG00000016902 ENST00000344532.3:c.217+73C>A chr13.hg19:g.49107090G>T NA B2RDW8 hg19 CCDS9411.1 0.02 9.12596 CCAxTGG COVERED NOVEL RCBTB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044888.2 2 60.797111 KEEP 0 0 0 202 7195 GG 1 1 0 - 9 60 293 0 0 16.39982 267 60 9605 609 ENST00000344532.3 0.032609 1 PHF11 51131 __UNKNOWN__ __UNKNOWN__ 13 50087142 50087142 __UNKNOWN__ Intron SNP T T C rs2247119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50087142T>C ENST00000378319.3 + 3 257 PHF11_ENST00000357596.3_Intron|PHF11_ENST00000488958.1_Intron NM_001040443.1 NP_001035533.1 Q9UIL8 PHF11_HUMAN PHD finger protein 11 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) zinc ion binding (GO:0008270) large_intestine(3)|lung(1) 4 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) TTCTGACATGTAGCTTTCAAT 0.413 NA T||| 1112 0.222045 0.0567 0.3228 5008 , , NA 19390 0.3621 NA 0.2833 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 GRCh37 CS055612 PHF11 S rs2247119 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011031 CCDS31975.1, CCDS41887.1 13q14.11 2014-05-20 ENSG00000136147 ENSG00000136147 51131 Zinc fingers, PHD-type 17024 protein-coding gene gene with protein product IgE responsiveness (atopic) 607796 NA 10508479, 15057823 Standard NM_016119 XM_005266417 NA Approved NY-REN-34, BCAP, IGER uc001vdb.3 Q9UIL8 OTTHUMG00000016916 ENST00000378319.3:c.217-53T>C chr13.hg19:g.50087142T>C NA Q5W0A4|Q5W0A6|Q9Y5A2 hg19 CCDS31975.1 0.02 4.457903 ATGxAGC COVERED NOVEL PHF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044915.1 1 3.008257 KEEP 0 0 0 10 294 TT 0.992708 0.992705 0 + 5 60 190 0 0 12.437041 111 60 3826 132 ENST00000378319.3 0.043103 0.999997 PHF11 51131 __UNKNOWN__ __UNKNOWN__ 13 50102810 50102810 __UNKNOWN__ 3'UTR SNP G G A rs1046295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50102810G>A ENST00000378319.3 + 0 1046 PHF11_ENST00000357596.3_3'UTR|PHF11_ENST00000488958.1_3'UTR NM_001040443.1 NP_001035533.1 Q9UIL8 PHF11_HUMAN PHD finger protein 11 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) zinc ion binding (GO:0008270) large_intestine(3)|lung(1) 4 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) AGGGATTACCGTTTCCTAAGC 0.398 NA G||| 2101 0.419529 0.3449 0.5432 5008 , , NA 21075 0.4524 NA 0.5179 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 GRCh37 CR055631 PHF11 R rs1046295 G , 1613,2793 498.1+/-364.0 295,1023,885 90 79 82 , -4.6 0 13 dbSNP_86 82 4569,4031 596.1+/-393.6 1243,2083,974 no utr-3,utr-3 PHF11 NM_001040443.1,NM_001040444.1 , 1538,3106,1859 AA,AG,GG 46.8721,36.6092,47.5319 , , 50102810 6182,6824 2203 4300 6503 SO:0001624 3_prime_UTR_variant AB011031 CCDS31975.1, CCDS41887.1 13q14.11 2014-05-20 ENSG00000136147 ENSG00000136147 51131 Zinc fingers, PHD-type 17024 protein-coding gene gene with protein product IgE responsiveness (atopic) 607796 NA 10508479, 15057823 Standard NM_016119 XM_005266417 NA Approved NY-REN-34, BCAP, IGER uc001vdb.3 Q9UIL8 OTTHUMG00000016916 ENST00000378319.3:c.*9G>A chr13.hg19:g.50102810G>A NA Q5W0A4|Q5W0A6|Q9Y5A2 hg19 CCDS31975.1 0.02 32.22357 ACCxTTT COVERED NOVEL PHF11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000044915.1 3 23.64418 KEEP 0 2 61 100 3448 GG 1 1 0 + 20 60 746 0 0 44.091493 732 60 25641 1050 ENST00000378319.3 0.026596 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 50103217 50103217 __UNKNOWN__ IGR SNP G G A rs3794378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50103217G>A NA NA PHF11 (94 upstream) : RCBTB1 (2864 downstream) NA NA NA CTTCAAAACAGACACCTAAAT 0.328 NA A||| 3105 0.620008 0.5189 0.6945 5008 , , NA 18945 0.7897 NA 0.6034 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.50103217G>A NA hg19 0.02 2.009168 ACAxACA COVERED NOVEL 0 1 3.310819 KEEP 0 0 0 11 389 GG 0.993072 0.987533 0 5 60 182 0 0 12.898346 61 60 2232 82 0.075758 0.994422 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50106955 50106955 __UNKNOWN__ 3'UTR SNP A A G rs7995684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50106955A>G ENST00000378302.2 - 0 3159 RCBTB1_ENST00000258646.3_3'UTR NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) CACTAAGGGAACTCACTCAAA 0.418 NA G||| 2107 0.420727 0.3442 0.5447 5008 , , NA 20326 0.4554 NA 0.5179 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.*1303T>C chr13.hg19:g.50106955A>G NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 9.799274 GGAxCTC COVERED NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 0 8.160561 KEEP 0 1 37 40 1270 AA 1 1 0 - 11 60 431 0 0 29.591328 200 60 7087 289 ENST00000378302.2 0.052133 1 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50107231 50107231 __UNKNOWN__ 3'UTR SNP C C A rs1128767 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50107231C>A ENST00000378302.2 - 0 2883 RCBTB1_ENST00000258646.3_3'UTR NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TAAAGTTTCACATAAGCCAAT 0.348 NA A||| 2107 0.420727 0.3442 0.5447 5008 , , NA 19625 0.4554 NA 0.5179 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.*1027G>T chr13.hg19:g.50107231C>A NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 8.89458 TCAxATA COVERED NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 0 9.464683 KEEP 0 1 27 41 1451 CC 1 1 0 - 9 60 325 0 0 20.480126 211 60 7944 309 ENST00000378302.2 0.040909 1 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50107289 50107289 __UNKNOWN__ 3'UTR SNP T T C rs1046028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50107289T>C ENST00000378302.2 - 0 2825 RCBTB1_ENST00000258646.3_3'UTR NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) CCACTAAGTCTTGTAAGAGGG 0.343 NA C||| 2106 0.420527 0.3434 0.5447 5008 , , NA 20238 0.4554 NA 0.5179 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.*969A>G chr13.hg19:g.50107289T>C NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 10.133761 GTCxTGT COVERED NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 1 7.995205 KEEP 0 2 73 52 1685 TT 1 1 0 - 10 60 394 0 0 26.844582 194 60 7152 327 ENST00000378302.2 0.04902 1 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50107323 50107323 __UNKNOWN__ 3'UTR SNP C C T rs1046027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50107323C>T ENST00000378302.2 - 0 2791 RCBTB1_ENST00000258646.3_3'UTR NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) CCACTTCTTCCAGTCATATAT 0.338 NA C||| 2109 0.421126 0.3442 0.5461 5008 , , NA 19851 0.4554 NA 0.5189 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.*935G>A chr13.hg19:g.50107323C>T NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 6.115034 TTCxAGT COVERED NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 1 7.392776 KEEP 0 2 58 45 1589 CC 1 1 0 - 8 60 281 0 0 17.613594 177 60 6706 285 ENST00000378302.2 0.043243 1 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50107904 50107904 __UNKNOWN__ 3'UTR SNP G G A rs3186013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50107904G>A ENST00000378302.2 - 0 2210 RCBTB1_ENST00000258646.3_3'UTR NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TTGTTGATACGTGGCCCAGGA 0.448 NA G||| 2107 0.420727 0.3442 0.5447 5008 , , NA 17082 0.4554 NA 0.5179 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.*354C>T chr13.hg19:g.50107904G>A NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 6.276655 TACxTGG COVERED NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 0 10.76744 KEEP 0 1 29 46 1573 GG 1 1 0 - 6 60 225 0 0 13.929198 175 60 6028 258 ENST00000378302.2 0.033149 1 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50123622 50123622 __UNKNOWN__ Silent SNP G G C rs3751384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50123622G>C ENST00000378302.2 - 9 1277 c.1017C>G c.(1015-1017)ccC>ccG p.P339P RCBTB1_ENST00000258646.3_Silent_p.P339P|RCBTB1_ENST00000546015.1_Silent_p.P339P NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 339 NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) ACGAGACGGCGGGAGTGGCAA 0.597 NA G||| 2380 0.47524 0.2632 0.6441 5008 , , NA 15536 0.5149 NA 0.6441 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 G 1401,3005 458.2+/-351.9 217,967,1019 67 53 58 1017 -10.1 0.1 13 dbSNP_107 58 5809,2791 675.5+/-403.2 1987,1835,478 no coding-synonymous RCBTB1 NM_018191.3 2204,2802,1497 CC,CG,GG 32.4535,31.7975,44.564 339/532 50123622 7210,5796 2203 4300 6503 SO:0001819 synonymous_variant AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.1017C>G chr13.hg19:g.50123622G>C NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 6.490233 GGCxGGA COVERED NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 1 3.04321 KEEP 0 1 31 21 679 GG 0.999879 0.999879 0 - 6 60 223 0 0 13.92619 162 60 5292 200 ENST00000378302.2 0.035714 1 RCBTB1 55213 __UNKNOWN__ __UNKNOWN__ 13 50141345 50141345 __UNKNOWN__ Missense_Mutation SNP G G A rs4942848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50141345G>A ENST00000378302.2 - 3 331 c.71C>T c.(70-72)gCg>gTg p.A24V RCBTB1_ENST00000258646.3_Missense_Mutation_p.A24V|RCBTB1_ENST00000546015.1_Missense_Mutation_p.A24V NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 24 NA A -> V (in dbSNP:rs4942848). {ECO:0000269|PubMed:11306461, ECO:0000269|PubMed:14565662, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GAAGACACACGCCTTCCGAAT 0.468 NA G||| 2635 0.526158 0.3177 0.7305 5008 , , NA 18492 0.6131 NA 0.6561 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 G VAL/ALA 1660,2746 507.4+/-366.7 304,1052,847 124 111 115 71 5.8 1 13 dbSNP_111 115 5887,2713 682.2+/-403.8 2041,1805,454 yes missense RCBTB1 NM_018191.3 64 2345,2857,1301 AA,AG,GG 31.5465,37.6759,41.9729 benign 24/532 50141345 7547,5459 2203 4300 6503 SO:0001583 missense AF334406 CCDS9418.1 13q14 2013-01-08 ENSG00000136144 ENSG00000136144 55213 BTB/POZ domain containing 18243 protein-coding gene gene with protein product 607867 NA 11306461 Standard NM_018191 XM_005266441 NA Approved FLJ10716, CLLD7, CLLL7 uc001vde.1 Q8NDN9 OTTHUMG00000016915 ENST00000378302.2:c.71C>T chr13.hg19:g.50141345G>A ENSP00000367552:p.Ala24Val NA Q8IY29|Q969U9 hg19 CCDS9418.1 0.02 15.422722 CACxCCT COVERED 1284 0.5879120879120879 162 0.32926829268292684 245 0.6767955801104972 366 0.6398601398601399 511 0.6741424802110818 G 23.9 4.468169 0.84533 0.376759 0.684535 ENSG00000136144 ENST00000258646;ENST00000378302;ENST00000546015 T;T;T 0.77098 1.34;1.34;-1.07 5.84 5.84 0.93424 Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.42744 1.35 0.09310 P 0.999999999232834 D 0.89917 1.0 D 0.91635 0.999 T 0.45338 -0.9268 9 0.02654 T 1 -16.71 20.1466 0.98079 0.0:0.0:1.0:0.0 rs4942848;rs17857155;rs57157356;rs4942848 24 Q8NDN9 RCBT1_HUMAN V 24 ENSP00000258646:A24V;ENSP00000367552:A24V;ENSP00000443293:A24V ENSP00000258646:A24V A - 2 0 RCBTB1 49039346 1.000000 0.71417 0.989000 0.46669 0.904000 0.53231 9.358000 0.97109 2.779000 0.95612 0.591000 0.81541 GCG NOVEL RCBTB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044912.2 1 18.660405 KEEP 0 0 0 62 2166 GG 1 1 0 - 20 60 727 0 0 48.075277 367 60 12428 556 ENST00000378302.2 0.05168 1 KPNA3 3839 __UNKNOWN__ __UNKNOWN__ 13 50273831 50273831 __UNKNOWN__ 3'UTR SNP T T C rs1043729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50273831T>C ENST00000261667.3 - 0 4085 NM_002267.3 NP_002258.2 O00505 IMA4_HUMAN karyopherin alpha 3 (importin alpha 4) NA NA cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732) cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) TCATAATGTGTGCAAATTTTA 0.338 NA T||| 1193 0.238219 0.2466 0.1643 5008 , , NA 19311 0.5982 NA 0.0278 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D89618 CCDS9421.1 13q14.3 2013-02-14 ENSG00000102753 ENSG00000102753 3839 Importins, Armadillo repeat containing 6396 protein-coding gene gene with protein product 601892 NA 9154134, 9435235 Standard NM_002267 NM_002267 NA Approved SRP1gamma, SRP4, hSRP1, IPOA4 uc001vdj.2 O00505 OTTHUMG00000016922 ENST00000261667.3:c.*2105A>G chr13.hg19:g.50273831T>C NA O00191|O43195|Q5JVM9|Q96AA7 hg19 CCDS9421.1 0.02 30.162048 GTGxGCA COVERED NOVEL KPNA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044939.2 7 38.517002 KEEP 58 0 0 128 4042 TT 1 1 0 - 23 60 790 0 0 45.329918 737 60 27030 1148 ENST00000261667.3 0.030263 1 KPNA3 3839 __UNKNOWN__ __UNKNOWN__ 13 50273970 50273970 __UNKNOWN__ 3'UTR SNP C C T rs1819191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50273970C>T ENST00000261667.3 - 0 3946 NM_002267.3 NP_002258.2 O00505 IMA4_HUMAN karyopherin alpha 3 (importin alpha 4) NA NA cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732) cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654) nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) TTAGCTTTTACGTTGTTATTC 0.368 NA C||| 1194 0.238419 0.2474 0.1643 5008 , , NA 18718 0.5982 NA 0.0278 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D89618 CCDS9421.1 13q14.3 2013-02-14 ENSG00000102753 ENSG00000102753 3839 Importins, Armadillo repeat containing 6396 protein-coding gene gene with protein product 601892 NA 9154134, 9435235 Standard NM_002267 NM_002267 NA Approved SRP1gamma, SRP4, hSRP1, IPOA4 uc001vdj.2 O00505 OTTHUMG00000016922 ENST00000261667.3:c.*1966G>A chr13.hg19:g.50273970C>T NA O00191|O43195|Q5JVM9|Q96AA7 hg19 CCDS9421.1 0.02 10.634255 TTAxGTT COVERED NOVEL KPNA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044939.2 3 10.232293 KEEP 0 0 0 34 1154 CC 0.999998 0.999998 0 - 8 60 302 0 0 18.040273 289 60 9760 353 ENST00000261667.3 0.026936 1 SPRYD7 57213 __UNKNOWN__ __UNKNOWN__ 13 50501980 50501980 __UNKNOWN__ Intron SNP G G A rs11617754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:50501980G>A ENST00000361840.3 - 3 495 SPRYD7_ENST00000378195.2_Intron NM_020456.2 NP_065189.1 Q5W111 SPRY7_HUMAN SPRY domain containing 7 NA NA haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2) 6 CAAACTCCCAGACAAAGCTGT 0.443 NA G||| 1636 0.326677 0.2209 0.2435 5008 , , NA 18569 0.6766 NA 0.1074 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055016 CCDS9422.1, CCDS45046.1 13q14.3 2011-05-25 2011-05-25 2011-05-25 ENSG00000123178 ENSG00000123178 57213 14297 protein-coding gene gene with protein product 607866 chromosome 13 open reading frame 1 C13orf1 NA 11306461, 11771308 Standard NM_020456 NM_020456 NA Approved CLLD6 uc001vdl.2 Q5W111 OTTHUMG00000016924 ENST00000361840.3:c.390+74C>T chr13.hg19:g.50501980G>A NA A8K3G1|O60648|Q8TBG8|Q96T69 hg19 CCDS9422.1 0.02 1.965069 CCAxACA COVERED NOVEL SPRYD7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000044942.2 1 5.71846 KEEP 0 0 0 19 666 GG 0.99986 0.997023 0 - 4 60 144 0 0 9.626571 67 60 2552 99 ENST00000361840.3 0.056338 0.997163 NEK3 4752 __UNKNOWN__ __UNKNOWN__ 13 52731004 52731004 __UNKNOWN__ 5'UTR SNP A A T rs1571189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:52731004A>T ENST00000400357.2 - 0 616 NEK3_ENST00000339406.3_Intron|NEK3_ENST00000452082.2_5'UTR|NEK3_ENST00000378101.2_Intron P51956 NEK3_HUMAN NIMA-related kinase 3 NA NA mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468) cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) tataCTACATACAACAGGCAG 0.418 NA T||| 2436 0.486422 0.2284 0.6124 5008 , , NA 19321 0.5903 NA 0.6779 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK290259, BC019916 CCDS73576.1 13q14.2-q21.1 2014-07-17 2012-11-15 ENSG00000136098 ENSG00000136098 4752 2.7.11.1 7746 protein-coding gene gene with protein product serine/threonine-protein kinase NEK3, phosphorylase B kinase kinase, glycogen synthase A kinase, hydroxyalkyl-protein kinase 604044 NIMA (never in mitosis gene a)-related kinase 3 NA 8274451, 7522034 Standard NM_002498 NA Approved HSPK36, MGC29949 uc010tgy.2 P51956 OTTHUMG00000016958 ENST00000400357.2:c.-678T>A chr13.hg19:g.52731004A>T NA A8K2J4|Q5TAP2|Q8J023|Q8WUN5 hg19 CCDS53871.1 0.02 6.161991 CATxCAA COVERED NOVEL NEK3-002 KNOWN upstream_ATG|basic|CCDS protein_coding NA protein_coding OTTHUMT00000045047.3 0 15.34367 KEEP 0 0 0 51 1553 AA 1 1 0 - 6 60 209 0 0 12.661238 154 60 5493 257 ENST00000400357.2 0.0375 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 59103501 59103501 __UNKNOWN__ IGR SNP A A G rs9591893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:59103501A>G NA NA RNY4P29 (1616 upstream) : RNU7-88P (950702 downstream) NA NA NA AAGACTCCAAAGTACACGCAG 0.383 NA A||| 742 0.148163 0.031 0.2017 5008 , , NA 20048 0.1756 NA 0.2286 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.59103501A>G NA hg19 0.02 6.523257 CAAxGTA COVERED NOVEL 0 1 3.611418 KEEP 0 0 0 12 398 AA 0.993634 0.993634 0 10 60 368 0 0 24.636225 177 60 6355 218 0.053476 1 PCDH20 64881 __UNKNOWN__ __UNKNOWN__ 13 61989066 61989066 __UNKNOWN__ Intron SNP A A G rs140880065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:61989066A>G ENST00000409186.1 - 4 2238 PCDH20_ENST00000409204.4_Intron Q8N6Y1 PCD20_HUMAN protocadherin 20 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AAGTTTAGATAAAGGTAGAAG 0.502 NA A||| 12 0.00239617 0.0 0.0 5008 , , NA 19086 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF169693 CCDS9442.2 13q21 2010-01-26 ENSG00000197991 ENSG00000197991 64881 Cadherins / Protocadherins : Non-clustered 14257 protein-coding gene gene with protein product 614449 NA Standard NM_022843 NM_022843 NA Approved PCDH13, FLJ22218 uc001vid.4 Q8N6Y1 OTTHUMG00000017012 ENST00000409186.1:c.132+93T>C chr13.hg19:g.61989066A>G NA A8K1K9|B1AQU2|Q8NDN4|Q9NRT9 hg19 CCDS9442.2 0.02 2.52237 GATxAAG COVERED NOVEL PCDH20-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333054.2 0 3.310004 KEEP 0 0 0 11 343 AA 0.993072 0.964095 0 - 4 60 160 0 0 11.750482 49 60 1773 76 ENST00000409186.1 0.075472 0.97082 KLF12 11278 __UNKNOWN__ __UNKNOWN__ 13 74262674 74262674 __UNKNOWN__ 3'UTR SNP C C A rs17090339 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:74262674C>A ENST00000377669.2 - 0 8188 NM_007249.4 NP_009180.3 Q9Y4X4 KLF12_HUMAN Kruppel-like factor 12 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 Prostate(6;0.00217)|Breast(118;0.0838) GBM - Glioblastoma multiforme(99;0.00677) AGTTGAGGAACTGAGAAAGTG 0.383 NA C||| 130 0.0259585 0.0 0.0 5008 , , NA 17254 0.126 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ243274 CCDS9449.1 13q22 2013-01-08 ENSG00000118922 ENSG00000118922 11278 Kruppel-like transcription factors, Zinc fingers, C2H2-type 6346 protein-coding gene gene with protein product KLF12 zinc finger transcriptional repressor, AP-2rep transcription factor, AP-2 repressor 607531 NA 10704285 Standard NM_007249 NM_007249 NA Approved AP-2rep, HSPC122, AP2REP uc001vjf.3 Q9Y4X4 OTTHUMG00000017078 ENST00000377669.2:c.*6953G>T chr13.hg19:g.74262674C>A NA A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0 hg19 CCDS9449.1 0.02 3.715654 GAAxTGA COVERED NOVEL KLF12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045271.2 4 7.223577 KEEP 0 0 0 24 855 CC 0.999909 0.999908 0 - 5 60 177 0 0 11.045018 116 60 4314 169 ENST00000377669.2 0.041322 0.999999 COMMD6 170622 __UNKNOWN__ __UNKNOWN__ 13 76114397 76114397 __UNKNOWN__ Intron SNP A A C rs35556048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:76114397A>C ENST00000460675.1 - 1 106 Q7Z4G1 COMD6_HUMAN COMM domain containing 6 NA NA negative regulation of NF-kappaB transcription factor activity (GO:0032088) cytoplasm (GO:0005737)|nucleus (GO:0005634) NF-kappaB binding (GO:0051059) breast(1)|lung(1)|urinary_tract(1) 3 Breast(118;0.0979)|Prostate(6;0.122) GBM - Glioblastoma multiforme(99;0.0104) gtgagtcaccatgcccagccC 0.537 NA A||| 479 0.095647 0.1846 0.0821 5008 , , NA 13811 0.0 NA 0.1223 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY542161 CCDS9451.1, CCDS9452.1 13q22 2004-02-18 ENSG00000188243 ENSG00000188243 170622 24015 protein-coding gene gene with protein product 612377 NA 15799966 Standard XM_085023 NM_203497 NA Approved Acrg uc001vjn.1 Q7Z4G1 OTTHUMG00000017089 ENST00000460675.1:c.357+9061T>G chr13.hg19:g.76114397A>C NA A6NF28|B7ZLN0|Q5TBK4 hg19 0.02 -0.052635 ACCxTGC UNCOVERED NOVEL COMMD6-011 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000323441.1 6 2.70811 KEEP 4 0 0 9 282 AA 0.99257 0.036492 0 - 3 60 109 0 0 10.52507 3 60 98 24 ENST00000460675.1 0.5 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 77167094 77167094 __UNKNOWN__ IGR SNP T T C rs138230894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:77167094T>C NA NA RN7SL571P (457734 upstream) : KCTD12 (287217 downstream) NA NA NA ACTGATTTTATTTTTCCTAAC 0.338 NA -||| 579 0.115615 0.1165 0.1354 5008 , , NA 15296 0.1141 NA 0.0606 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.77167094T>C NA hg19 0.02 8.829858 TTAxTTT COVERED NOVEL 0 1 12.593434 KEEP 49 0 0 42 1341 TT 0.999998 0.999998 0 7 49 263 0 0 16.187292 212 50 7704 362 0.031963 1 SLAIN1 122060 __UNKNOWN__ __UNKNOWN__ 13 78318389 78318389 __UNKNOWN__ Intron SNP G G A rs17777179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:78318389G>A ENST00000351546.3 + 2 281 SLAIN1_ENST00000488699.1_Intron|SLAIN1_ENST00000465831.1_Intron|SLAIN1_ENST00000418532.1_Intron|SLAIN1_ENST00000466548.1_Intron|SLAIN1_ENST00000314070.5_Intron|SLAIN1_ENST00000267219.8_Intron|SLAIN1_ENST00000358679.3_Intron NM_001242870.1|NM_001242871.1|NM_144595.3 NP_001229799.1|NP_001229800.1|NP_653196.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 NA NA breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) CCTGCAGATGGAAGAACACAC 0.413 NA a||| 259 0.0517173 0.003 0.0403 5008 , , NA 19122 0.0317 NA 0.0795 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 A ,,,,, 64,4342 818.6+/-416.3 0,64,2139 72 67 68 ,,,,, -0.6 0 13 dbSNP_123 68 670,7930 786.8+/-407.6 41,588,3671 no intron,intron,intron,intron,intron,intron SLAIN1 NM_001040153.3,NM_001242868.1,NM_001242869.1,NM_001242870.1,NM_001242871.1,NM_144595.3 ,,,,, 41,652,5810 AA,AG,GG 7.7907,1.4526,5.6435 ,,,,, ,,,,, 78318389 734,12272 2203 4300 6503 SO:0001627 intron_variant AK054608 CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1 13q22.3 2006-09-12 2006-09-12 2006-09-12 ENSG00000139737 ENSG00000139737 122060 26387 protein-coding gene gene with protein product 610491 chromosome 13 open reading frame 32 C13orf32 NA 16546155 Standard NM_144595 NM_001040153 NA Approved FLJ30046 uc001vkk.3 Q8ND83 OTTHUMG00000017110 ENST00000351546.3:c.-89-29G>A chr13.hg19:g.78318389G>A NA A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0 hg19 CCDS9460.1 0.02 23.302393 ATGxAAG COVERED 80 0.03663003663003663 5 0.01016260162601626 15 0.04143646408839779 7 0.012237762237762238 53 0.06992084432717678 a 31 5.099296 0.94197 0.014526 0.077907 ENSG00000139737 ENST00000377236 . . . 5.07 -0.654 0.11443 . . . . . . . . . . . 0.21147 N 0.999778 . . . . . . . . . . 0.02654 T 1 . 0.5411 0.00645 0.4277:0.1352:0.1737:0.2635 rs17777179;rs57954538;rs17777179 . . . X 9 . ENSP00000366444:W9X W + 3 0 SLAIN1 77216390 0.000000 0.05858 0.001000 0.08648 0.023000 0.10783 0.381000 0.20619 -0.034000 0.13713 -0.541000 0.04245 TGG NOVEL SLAIN1-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000045344.3 2 22.874563 KEEP 0 0 0 76 2683 GG 1 1 0 + 17 60 574 0 0 32.620712 572 60 21187 828 ENST00000351546.3 0.028862 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 79886654 79886654 __UNKNOWN__ IGR SNP C C T rs1408656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:79886654C>T NA NA LINC00331 (520212 upstream) : RBM26 (7434 downstream) NA NA NA ATCACTATGCCTCCTGTTGAG 0.318 NA C||| 1702 0.339856 0.0522 0.4899 5008 , , NA 19113 0.5417 NA 0.4066 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.79886654C>T NA hg19 0.02 9.870849 TGCxTCC COVERED NOVEL 0 3 18.058899 KEEP 0 0 0 60 2122 CC 1 1 0 13 60 496 0 0 33.932015 224 60 8308 353 0.054852 1 GPC5 2262 __UNKNOWN__ __UNKNOWN__ 13 92345579 92345579 __UNKNOWN__ Missense_Mutation SNP C C T rs553717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:92345579C>T ENST00000377067.3 + 3 836 c.464C>T c.(463-465)gCg>gTg p.A155V NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 155 NA A -> V (in dbSNP:rs553717). carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281) anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TTATTTGGTGCGGATGTTAAT 0.443 NA C||| 986 0.196885 0.1936 0.1513 5008 , , NA 18441 0.2897 NA 0.1481 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 C VAL/ALA 822,3584 328.5+/-300.6 67,688,1448 153 156 155 464 4.2 0.8 13 dbSNP_83 155 970,7630 211.4+/-252.0 45,880,3375 yes missense GPC5 NM_004466.4 64 112,1568,4823 TT,TC,CC 11.2791,18.6564,13.7783 benign 155/573 92345579 1792,11214 2203 4300 6503 SO:0001583 missense AF001462 CCDS9468.1 13q32 2011-08-01 ENSG00000179399 ENSG00000179399 2262 Proteoglycans / Cell Surface : Glypicans 4453 protein-coding gene gene with protein product glypican proteoglycan 5 602446 NA 9070915, 20304703, 19556317, 15057823 Standard NM_004466 NM_004466 NA Approved uc010tif.2 P78333 OTTHUMG00000017200 ENST00000377067.3:c.464C>T chr13.hg19:g.92345579C>T ENSP00000366267:p.Ala155Val NA B2R726|O60436|Q9BX27 hg19 CCDS9468.1 0.02 14.508038 GTGxGGA COVERED 379 0.17353479853479853 78 0.15853658536585366 44 0.12154696132596685 165 0.28846153846153844 92 0.12137203166226913 C 14.72 2.620512 0.46736 0.186564 0.112791 ENSG00000179399 ENST00000377067 T 0.54071 0.59 5.07 4.19 0.49359 . 0.330872 0.32518 N 0.005993 T 0.00012 0.0000 L 0.46157 1.445 0.27994 P 0.9355561 B 0.15473 0.013 B 0.15870 0.014 T 0.09862 -1.0655 9 0.59425 D 0.04 . 11.2088 0.48786 0.0:0.9046:0.0:0.0954 rs553717;rs52808980;rs57920264;rs553717 155 P78333 GPC5_HUMAN V 155 ENSP00000366267:A155V ENSP00000366267:A155V A + 2 0 GPC5 91143580 0.601000 0.26907 0.790000 0.31976 0.620000 0.37586 2.728000 0.47319 1.044000 0.40200 0.467000 0.42956 GCG NOVEL GPC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045454.1 1 7.157672 KEEP 0 1 32 35 1218 CC 0.999999 0.999999 0 + 19 60 696 0 0 45.72745 370 60 13112 495 ENST00000377067.3 0.048843 1 ABCC4 10257 __UNKNOWN__ __UNKNOWN__ 13 95839203 95839203 __UNKNOWN__ Intron SNP C C T rs4148487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:95839203C>T ENST00000376887.4 - 11 1468 ABCC4_ENST00000431522.1_Intron|ABCC4_ENST00000538287.1_Intron|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000412704.1_Intron NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NA NA blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495) AAGAATAAGCCACTGCAATGC 0.423 NA C||| 338 0.067492 0.0643 0.0591 5008 , , NA 18984 0.0942 NA 0.0875 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U66682 CCDS9474.1 13q31 2012-03-14 ENSG00000125257 ENSG00000125257 10257 ATP binding cassette transporters / subfamily C 55 protein-coding gene gene with protein product canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B 605250 NA 8894702, 9661885 Standard NM_005845 NM_005845 NA Approved MRP4, EST170205, MOAT-B, MOATB uc001vmd.4 O15439 OTTHUMG00000017216 ENST00000376887.4:c.1354-57G>A chr13.hg19:g.95839203C>T NA A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2 hg19 CCDS9474.1 0.02 1.941296 AGCxACT COVERED NOVEL ABCC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045478.2 0 3.310495 KEEP 0 0 0 11 372 CC 0.993072 0.957097 0 - 4 60 128 0 0 8.628912 47 60 1756 66 ENST00000376887.4 0.078431 0.963774 ABCC4 10257 __UNKNOWN__ __UNKNOWN__ 13 95858704 95858704 __UNKNOWN__ Intron SNP G G C rs3818494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:95858704G>C ENST00000376887.4 - 8 1276 ABCC4_ENST00000431522.1_Intron|ABCC4_ENST00000538287.1_Intron|ABCC4_ENST00000536256.1_Intron|ABCC4_ENST00000412704.1_Intron NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 NA NA blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495) TCATTACACTGGAACATAGTG 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U66682 CCDS9474.1 13q31 2012-03-14 ENSG00000125257 ENSG00000125257 10257 ATP binding cassette transporters / subfamily C 55 protein-coding gene gene with protein product canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B 605250 NA 8894702, 9661885 Standard NM_005845 NM_005845 NA Approved MRP4, EST170205, MOAT-B, MOATB uc001vmd.4 O15439 OTTHUMG00000017216 ENST00000376887.4:c.1161+81C>G chr13.hg19:g.95858704G>C NA A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2 hg19 CCDS9474.1 0.02 2.32612 ACTxGAA COVERED NOVEL ABCC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045478.2 0 3.611775 KEEP 0 0 0 12 429 GG 0.993634 0.986604 0 - 4 60 147 0 0 10.112843 60 60 2266 84 ENST00000376887.4 0.0625 0.992926 ABCC4 10257 __UNKNOWN__ __UNKNOWN__ 13 95858996 95858996 __UNKNOWN__ Silent SNP T T C rs2274406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:95858996T>C ENST00000376887.4 - 8 1065 c.951A>G c.(949-951)agA>agG p.R317R ABCC4_ENST00000431522.1_Silent_p.R317R|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.R242R|ABCC4_ENST00000412704.1_Silent_p.R317R NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 317 ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}. NA blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088) 15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) p.R317R(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495) AATTCATCCCTCTGAGGCAGG 0.468 NA T||| 2595 0.518171 0.3495 0.4957 5008 , , NA 21994 0.5327 NA 0.6193 False NA ,,, NA NA NA 2504 0.6431 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T , 1722,2684 512.2+/-368.0 368,986,849 158 156 157 951,951 3.2 1 13 dbSNP_100 157 5573,3027 662.7+/-402.0 1789,1995,516 no coding-synonymous,coding-synonymous ABCC4 NM_001105515.1,NM_005845.3 , 2157,2981,1365 CC,CT,TT 35.1977,39.0831,43.9105 , 317/860,317/1326 95858996 7295,5711 2203 4300 6503 SO:0001819 synonymous_variant U66682 CCDS9474.1 13q31 2012-03-14 ENSG00000125257 ENSG00000125257 10257 ATP binding cassette transporters / subfamily C 55 protein-coding gene gene with protein product canalicular multispecific organic anion transporter (ABC superfamily), bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4), multidrug resistance-associated protein 4, multispecific organic anion transporter B 605250 NA 8894702, 9661885 Standard NM_005845 NM_005845 NA Approved MRP4, EST170205, MOAT-B, MOATB uc001vmd.4 O15439 OTTHUMG00000017216 ENST00000376887.4:c.951A>G chr13.hg19:g.95858996T>C NA A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2 hg19 CCDS9474.1 0.02 13.059584 CCCxCTG COVERED NOVEL ABCC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045478.2 2 18.629044 KEEP 0 0 0 62 1970 TT 1 1 0 - 15 60 543 0 0 35.030459 312 60 11498 498 ENST00000376887.4 0.045872 1 IPO5 3843 __UNKNOWN__ __UNKNOWN__ 13 98658362 98658362 __UNKNOWN__ Intron SNP A A G rs200500642 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:98658362A>G ENST00000490680.1 + 14 1562 IPO5_ENST00000539640.1_Intron|IPO5_ENST00000493492.2_Intron|IPO5_ENST00000261574.5_Intron O00410 IPO5_HUMAN importin 5 NA NA cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536) breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 CTTTGAGGTAATAATTTGTGT 0.378 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 15580 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 74 76 76 NA NA 13 NA 98658362 2203 4300 6503 SO:0001627 intron_variant U72761 CCDS31999.1 13q32.2 2012-05-02 2008-04-15 2008-04-15 ENSG00000065150 ENSG00000065150 3843 Importins 6402 protein-coding gene gene with protein product 602008 karyopherin (importin) beta 3, RAN binding protein 5 KPNB3, RANBP5 NA 9114010, 9271386, 17005651 Standard NM_002271 NM_002271 NA Approved IMB3, MGC2068, Pse1 uc001vne.3 O00410 OTTHUMG00000017244 ENST00000490680.1:c.1498-22A>G chr13.hg19:g.98658362A>G NA B4DZA0|O15257|Q5T578|Q86XC7 hg19 0.02 11.658852 GTAxTAA COVERED NOVEL IPO5-006 NOVEL alternative_5_UTR|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000354655.1 6 10.832375 KEEP 0 0 0 36 1132 AA 0.999999 0.999999 0 + 16 60 629 0 0 43.556517 278 60 9837 340 ENST00000490680.1 0.054422 1 FARP1 10160 __UNKNOWN__ __UNKNOWN__ 13 99042390 99042390 __UNKNOWN__ Intron SNP T T C rs2256823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99042390T>C ENST00000319562.6 + 10 1284 FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron NM_005766.2 NP_005757.1 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) NA NA dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GTCGCCACTTTGTGCCTCTGT 0.557 NA C||| 1630 0.325479 0.6067 0.2464 5008 , , NA 17181 0.2391 NA 0.169 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 C 2384,2022 562.8+/-381.0 640,1104,459 83 85 84 2.5 0 13 dbSNP_100 84 1517,7083 747.2+/-407.3 122,1273,2905 no intron FARP1 NM_005766.2 762,2377,3364 CC,CT,TT 17.6395,45.892,29.9938 99042390 3901,9105 2203 4300 6503 SO:0001627 intron_variant AB008430 CCDS9487.1, CCDS32000.1, CCDS66572.1 13q32.2 2013-01-10 ENSG00000152767 ENSG00000152767 10160 Rho guanine nucleotide exchange factors, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Pleckstrin homology (PH) domain containing 3591 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 75 602654 NA 9425278 Standard NM_005766 NM_005766 NA Approved CDEP, PLEKHC2, MGC87400, PPP1R75 uc001vnj.3 Q9Y4F1 OTTHUMG00000017248 ENST00000319562.6:c.1019+16T>C chr13.hg19:g.99042390T>C NA Q5JVI9|Q6IQ29 hg19 CCDS9487.1 0.02 1.213018 CTTxGTG COVERED NOVEL FARP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045541.3 1 3.309959 KEEP 0 0 0 11 339 TT 0.993072 0.993035 0 + 4 60 131 0 0 7.721558 96 60 3379 124 ENST00000319562.6 0.04 0.999962 FARP1 10160 __UNKNOWN__ __UNKNOWN__ 13 99062978 99062978 __UNKNOWN__ Intron SNP G G T rs2291175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99062978G>T ENST00000319562.6 + 15 1867 FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron NM_005766.2 NP_005757.1 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) NA NA dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202) Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TCTTTTGCTGGGTTTTGCAGA 0.398 NA G||| 190 0.0379393 0.003 0.0202 5008 , , NA 19326 0.0575 NA 0.0398 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 G 32,4374 36.8+/-68.6 0,32,2171 118 102 107 2.2 0 13 dbSNP_100 107 343,8257 111.0+/-171.3 8,327,3965 no intron FARP1 NM_005766.2 8,359,6136 TT,TG,GG 3.9884,0.7263,2.8833 99062978 375,12631 2203 4300 6503 SO:0001627 intron_variant AB008430 CCDS9487.1, CCDS32000.1, CCDS66572.1 13q32.2 2013-01-10 ENSG00000152767 ENSG00000152767 10160 Rho guanine nucleotide exchange factors, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Pleckstrin homology (PH) domain containing 3591 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 75 602654 NA 9425278 Standard NM_005766 NM_005766 NA Approved CDEP, PLEKHC2, MGC87400, PPP1R75 uc001vnj.3 Q9Y4F1 OTTHUMG00000017248 ENST00000319562.6:c.1603-10G>T chr13.hg19:g.99062978G>T NA Q5JVI9|Q6IQ29 hg19 CCDS9487.1 0.02 9.112104 CTGxGTT COVERED NOVEL FARP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045541.3 1 12.64136 KEEP 0 0 0 42 1502 GG 1 1 0 + 13 60 466 0 0 31.340163 208 60 7601 321 ENST00000319562.6 0.058824 1 SLC15A1 6564 __UNKNOWN__ __UNKNOWN__ 13 99373505 99373505 __UNKNOWN__ Intron SNP G G C rs74900212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99373505G>C ENST00000376503.5 - 7 612 NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 NA NA digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610) TAGGAAGATGGATGCCCATGC 0.478 NA G||| 195 0.0389377 0.0416 0.0043 5008 , , NA 21468 0.0962 NA 0.0 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U13173 CCDS9489.1 13q32.3 2013-05-22 ENSG00000088386 ENSG00000088386 6564 Solute carriers 10920 protein-coding gene gene with protein product peptide transporter HPEPT1, bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1), solute carrier family 15 oligopeptide transporter member 1 600544 NA 7896779 Standard NM_005073 NM_005073 NA Approved PEPT1, HPECT1, HPEPT1 uc001vno.3 P46059 OTTHUMG00000017255 ENST00000376503.5:c.556+243C>G chr13.hg19:g.99373505G>C NA Q5VW82 hg19 CCDS9489.1 0.02 17.980428 ATGxATG COVERED 67 0.030677655677655676 18 0.036585365853658534 1 0.0027624309392265192 48 0.08391608391608392 0 0.0 G 12.19 1.862408 0.32884 . . ENSG00000088386 ENST00000376494 . . . 3.37 -0.492 0.12041 . . . . . T 0.01092 0.0036 . . . 0.09310 N 1 D 0.58620 0.983 B 0.43783 0.431 T 0.05289 -1.0894 7 0.49607 T 0.09 . 4.1414 0.10194 0.2307:0.3817:0.3875:0.0 . 235 Q9BZ22 . C 235 . ENSP00000365677:S235C S - 2 0 SLC15A1 98171506 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.513000 0.06305 -0.139000 0.11414 -0.310000 0.09108 TCC NOVEL SLC15A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045560.3 2 7.819724 KEEP 0 0 0 26 903 GG 0.999957 0.999957 0 - 12 60 457 0 0 27.443925 435 60 16068 546 ENST00000376503.5 0.026846 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99448441 99448441 __UNKNOWN__ Intron SNP T T A rs9554522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99448441T>A ENST00000376460.1 - 56 6287 DOCK9_ENST00000339416.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGAAAAATAATGTTTAAAAAT 0.373 NA A||| 2076 0.414537 0.3601 0.3487 5008 , , NA 21427 0.6171 NA 0.4463 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 A , 1299,2385 231,837,774 44 39 40 , 4 0.1 13 dbSNP_119 40 3537,4647 782,1973,1337 no intron,intron DOCK9 NM_001130048.1,NM_015296.2 , 1013,2810,2111 AA,AT,TT 43.2185,35.2606,40.7482 , , 99448441 4836,7032 1842 4092 5934 SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.6204+18A>T chr13.hg19:g.99448441T>A NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 10.941663 TAAxGTT COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 1 20.15089 KEEP 0 0 0 67 2069 TT 1 1 0 - 16 60 572 0 0 38.685695 246 60 9169 407 ENST00000376460.1 0.061069 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99448608 99448608 __UNKNOWN__ Intron SNP C C A rs9554523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99448608C>A ENST00000376460.1 - 56 6279 DOCK9_ENST00000339416.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTCCACTGTGCCAGACTGAAG 0.468 NA C||| 878 0.175319 0.0121 0.1542 5008 , , NA 19913 0.4266 NA 0.2435 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.6199-141G>T chr13.hg19:g.99448608C>A NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 6.165619 GTGxCAG COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 1 3.91293 KEEP 0 0 0 13 474 CC 0.994391 0.994391 0 - 9 60 294 0 0 18.643283 162 60 5870 199 ENST00000376460.1 0.052632 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99448623 99448623 __UNKNOWN__ Intron SNP A A G rs9554524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99448623A>G ENST00000376460.1 - 56 6279 DOCK9_ENST00000339416.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTGAAGGACGATAATGGAGGG 0.458 NA G||| 2098 0.41893 0.3759 0.3487 5008 , , NA 19546 0.6171 NA 0.4473 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.6199-156T>C chr13.hg19:g.99448623A>G NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 4.476711 ACGxTAA COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 1 3.61085 KEEP 0 0 0 12 373 AA 0.993634 0.993634 0 - 8 60 302 0 0 20.505293 140 60 5094 169 ENST00000376460.1 0.054054 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99459891 99459891 __UNKNOWN__ Intron SNP A A C rs9557078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99459891A>C ENST00000376460.1 - 51 5637 DOCK9_ENST00000339416.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATTGCTATGAAACTTATCCA 0.308 NA A||| 2154 0.430112 0.3707 0.3386 5008 , , NA 17014 0.6766 NA 0.4394 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 A , 1334,2290 244,846,722 113 104 107 , 3 0 13 dbSNP_119 107 3361,4771 702,1957,1407 no intron,intron DOCK9 NM_001130048.1,NM_015296.2 , 946,2803,2129 CC,CA,AA 41.3305,36.8102,39.9371 , , 99459891 4695,7061 1812 4066 5878 SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.5556+23T>G chr13.hg19:g.99459891A>C NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 7.488001 ATGxAAC COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 1 8.125377 KEEP 0 0 0 27 882 AA 0.999988 0.999988 0 - 11 60 422 0 0 29.210895 179 60 6332 254 ENST00000376460.1 0.057895 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99482030 99482030 __UNKNOWN__ Intron SNP G G C rs9517459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99482030G>C ENST00000376460.1 - 42 4647 DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000448493.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACACAAACATGAGCAAATCAA 0.512 NA G||| 1063 0.21226 0.149 0.1599 5008 , , NA 19914 0.4286 NA 0.2197 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 G , 622,3336 53,516,1410 57 53 54 , 3.8 0 13 dbSNP_119 54 1819,6495 217,1385,2555 no intron,intron DOCK9 NM_001130048.1,NM_015296.2 , 270,1901,3965 CC,CG,GG 21.8788,15.715,19.8908 , , 99482030 2441,9831 1979 4157 6136 SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.4567-20C>G chr13.hg19:g.99482030G>C NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 7.206072 CATxAGC COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 0 7.824778 KEEP 0 0 0 26 897 GG 0.999957 0.999957 0 - 12 60 468 0 0 33.818527 154 60 5851 227 ENST00000376460.1 0.072289 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99483856 99483856 __UNKNOWN__ Intron SNP C C T rs2296986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99483856C>T ENST00000376460.1 - 40 4464 DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000448493.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTTCAATTCCGGGGGAAGAA 0.438 NA T||| 833 0.166334 0.0113 0.1239 5008 , , NA 21148 0.4226 NA 0.2237 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 T , 193,3661 3,187,1737 48 47 48 , 2.6 0 13 dbSNP_100 48 1811,6451 210,1391,2530 no intron,intron DOCK9 NM_001130048.1,NM_015296.2 , 213,1578,4267 TT,TC,CC 21.9196,5.0078,16.5401 , , 99483856 2004,10112 1927 4131 6058 SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.4383+46G>A chr13.hg19:g.99483856C>T NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 14.605285 TTCxGGG COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 0 16.249566 KEEP 0 0 0 54 1782 CC 1 1 0 - 13 60 498 0 0 32.578966 297 60 10491 439 ENST00000376460.1 0.041935 1 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99497760 99497760 __UNKNOWN__ Intron SNP G G T rs2183093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99497760G>T ENST00000376460.1 - 38 4210 DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000448493.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GAATGTGGACGCTTGATCAAT 0.433 NA G||| 831 0.165935 0.0083 0.1239 5008 , , NA 21970 0.4256 NA 0.2237 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.4129+417C>A chr13.hg19:g.99497760G>T NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 1.71408 GACxCTT COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 2 3.009863 KEEP 0 0 0 10 354 GG 0.992708 0.991583 0 - 4 60 144 0 0 9.484606 73 60 2636 88 ENST00000376460.1 0.051948 0.998867 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99602502 99602502 __UNKNOWN__ Intron SNP T T C rs9517504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99602502T>C ENST00000376460.1 - 2 324 DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000442173.1_Intron|DOCK9_ENST00000448493.2_Intron NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGTCTGAGATGCAGCTTGTC 0.418 NA C||| 2219 0.443091 0.4924 0.3285 5008 , , NA 18761 0.5486 NA 0.3718 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000376460.1:c.243+5186A>G chr13.hg19:g.99602502T>C NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 CCDS45062.1 0.02 -0.403531 AGAxGCA COVERED NOVEL DOCK9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045566.1 0 4.814453 KEEP 0 0 0 16 494 TT 0.997832 0.932466 0 - 3 60 100 0 0 6.61753 43 60 1592 77 ENST00000376460.1 0.065217 0.934492 DOCK9 23348 __UNKNOWN__ __UNKNOWN__ 13 99631486 99631486 __UNKNOWN__ Intron SNP C C T rs9517521 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99631486C>T ENST00000339416.2 - 2 184 DOCK9_ENST00000448493.2_Intron Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 NA NA blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) gtagtagtagcagcagcggcg 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF527605 CCDS45062.1 13q32.3 2013-01-10 ENSG00000088387 ENSG00000088387 23348 Pleckstrin homology (PH) domain containing 14132 protein-coding gene gene with protein product zizimin1 607325 NA 12172552, 12432077 Standard NM_015296 NM_015296 NA Approved KIAA1058, ZIZ1 uc001vnt.2 Q9BZ29 OTTHUMG00000017260 ENST00000339416.2:c.130-23681G>A chr13.hg19:g.99631486C>T NA B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4 hg19 0.02 -0.305733 TAGxAGC COVERED NOVEL DOCK9-201 KNOWN basic protein_coding NA protein_coding 1 4.513703 KEEP 0 0 0 15 524 CC 0.99649 0.797437 0 - 4 60 136 0 0 10.170266 30 60 1063 69 ENST00000339416.2 0.117647 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 99753889 99753889 __UNKNOWN__ IGR SNP A A G rs7317128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:99753889A>G NA NA DOCK9-AS2 (13010 upstream) : UBAC2-AS1 (94741 downstream) NA NA NA aaggattgctagaggccagga 0.493 NA a||| 801 0.159944 0.0098 0.1009 5008 , , NA 17606 0.4067 NA 0.1799 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.99753889A>G NA hg19 0.02 -0.061414 GCTxGAG UNCOVERED NOVEL 0 2 2.702544 KEEP 0 0 0 9 269 AA 0.99254 0.04346 0 2 60 80 0 0 7.135508 5 60 187 20 0.285714 0.043787 TM9SF2 9375 __UNKNOWN__ __UNKNOWN__ 13 100169825 100169825 __UNKNOWN__ Intron SNP G G A rs9557247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:100169825G>A ENST00000376387.4 + 2 361 TM9SF2_ENST00000463709.1_Intron NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 NA NA transport (GO:0006810) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AAGGCTTTGTGTCCTGTTGTT 0.299 NA G||| 935 0.186701 0.0234 0.0865 5008 , , NA 17126 0.5327 NA 0.0507 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 G 144,4262 97.1+/-135.8 2,140,2061 76 70 72 -2.6 0 13 dbSNP_119 72 268,8324 102.7+/-163.9 9,250,4037 no intron TM9SF2 NM_004800.1 11,390,6098 AA,AG,GG 3.1192,3.2683,3.1697 100169825 412,12586 2203 4296 6499 SO:0001627 intron_variant U81006 CCDS9493.1 13q32.2 2011-03-28 ENSG00000125304 ENSG00000125304 9375 11865 protein-coding gene gene with protein product 604678 NA 9729438 Standard NM_004800 NA Approved P76 uc001voj.2 Q99805 OTTHUMG00000017272 ENST00000376387.4:c.172-43G>A chr13.hg19:g.100169825G>A NA A8K399|Q2TAY5 hg19 CCDS9493.1 0.02 1.763316 TGTxTCC COVERED NOVEL TM9SF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045602.3 0 3.009222 KEEP 0 0 0 10 326 GG 0.992708 0.992616 0 + 9 60 314 0 0 22.814756 85 60 3202 116 ENST00000376387.4 0.095745 0.999907 TM9SF2 9375 __UNKNOWN__ __UNKNOWN__ 13 100206495 100206495 __UNKNOWN__ Intron SNP G G T rs1980770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:100206495G>T ENST00000376387.4 + 14 1678 NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 NA NA transport (GO:0006810) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) ATAATCTCGTGTAGAGAAGAA 0.363 NA G||| 1082 0.216054 0.1089 0.0951 5008 , , NA 21645 0.5327 NA 0.0527 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U81006 CCDS9493.1 13q32.2 2011-03-28 ENSG00000125304 ENSG00000125304 9375 11865 protein-coding gene gene with protein product 604678 NA 9729438 Standard NM_004800 NA Approved P76 uc001voj.2 Q99805 OTTHUMG00000017272 ENST00000376387.4:c.1489-63G>T chr13.hg19:g.100206495G>T NA A8K399|Q2TAY5 hg19 CCDS9493.1 0.02 7.968085 CGTxTAG COVERED NOVEL TM9SF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045602.3 3 9.029523 KEEP 0 0 0 30 1069 GG 0.999997 0.999997 0 + 12 60 420 0 0 26.849139 237 60 8923 304 ENST00000376387.4 0.048193 1 ITGBL1 9358 __UNKNOWN__ __UNKNOWN__ 13 102366825 102366825 __UNKNOWN__ Silent SNP A A G rs2281991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:102366825A>G ENST00000376180.3 + 10 1536 c.1317A>G c.(1315-1317)gaA>gaG p.E439E ITGBL1_ENST00000545560.2_Silent_p.E298E|ITGBL1_ENST00000376162.3_Silent_p.E346E NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) 439 Cysteine-rich tandem repeats. NA cell adhesion (GO:0007155) extracellular region (GO:0005576) breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GTTCTGCTGAAGAGTGGTATA 0.393 NA A||| 1071 0.213858 0.0847 0.1614 5008 , , NA 21448 0.4058 NA 0.1521 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 A 416,3990 205.5+/-227.4 23,370,1810 424 393 403 1317 1.7 0.2 13 dbSNP_100 403 1183,7417 241.3+/-271.7 84,1015,3201 no coding-synonymous ITGBL1 NM_004791.1 107,1385,5011 GG,GA,AA 13.7558,9.4417,12.2943 439/495 102366825 1599,11407 2203 4300 6503 SO:0001819 synonymous_variant AF072752 CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1 13q33 2008-07-18 ENSG00000198542 ENSG00000198542 9358 6164 protein-coding gene gene with protein product ten integrin EGF-like repeat domains protein, ITGBL1, integrin beta-like 1 604234 NA 10051402 Standard NM_004791 NM_004791 NA Approved TIED, OSCP uc001vpb.4 O95965 OTTHUMG00000017296 ENST00000376180.3:c.1317A>G chr13.hg19:g.102366825A>G NA A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0 hg19 CCDS9499.1 0.02 9.500397 TGAxGAG COVERED NOVEL ITGBL1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045669.2 2 10.23134 KEEP 0 0 0 34 1102 AA 0.999998 0.999998 0 + 16 60 611 0 0 43.062427 229 60 8407 354 ENST00000376180.3 0.065306 1 TPP2 7174 __UNKNOWN__ __UNKNOWN__ 13 103271206 103271206 __UNKNOWN__ Intron SNP G G A rs4576935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103271206G>A ENST00000376065.4 + 5 656 TPP2_ENST00000376052.3_Intron NM_003291.2 NP_003282.2 P29144 TPP2_HUMAN tripeptidyl peptidase II NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240) breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGTAAACTTCGTGTATTTTAT 0.363 NA A||| 2367 0.472644 0.6157 0.3804 5008 , , NA 17899 0.4474 NA 0.4732 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 A 2647,1759 523.6+/-371.1 781,1085,337 142 136 138 -2.8 0 13 dbSNP_111 138 4138,4462 589.2+/-392.5 963,2212,1125 no intron TPP2 NM_003291.2 1744,3297,1462 AA,AG,GG 48.1163,39.9228,47.8318 103271206 6785,6221 2203 4300 6503 SO:0001627 intron_variant M55169 CCDS9502.1 13q32-q33 2008-02-05 ENSG00000134900 ENSG00000134900 7174 3.4.14.10 12016 protein-coding gene gene with protein product 190470 NA 1670990 Standard NM_003291 NA Approved uc001vpi.4 P29144 OTTHUMG00000017305 ENST00000376065.4:c.620+10G>A chr13.hg19:g.103271206G>A NA Q5VZU8 hg19 CCDS9502.1 0.02 6.434852 TTCxTGT COVERED NOVEL TPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045683.2 1 3.782288 KEEP 0 2 64 35 1224 GG 1 1 0 + 9 60 336 0 0 22.019261 188 60 6900 292 ENST00000376065.4 0.045685 1 TPP2 7174 __UNKNOWN__ __UNKNOWN__ 13 103275386 103275386 __UNKNOWN__ Silent SNP T T C rs2230854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103275386T>C ENST00000376065.4 + 6 816 c.780T>C c.(778-780)agT>agC p.S260S TPP2_ENST00000376052.3_Silent_p.S260S NM_003291.2 NP_003282.2 P29144 TPP2_HUMAN tripeptidyl peptidase II 260 Peptidase S8. NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240) breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGTGACCAGTGGAGGTATCC 0.403 NA C||| 2372 0.473642 0.618 0.3804 5008 , , NA 18693 0.4474 NA 0.4742 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 C 2655,1751 522.7+/-370.9 786,1083,334 139 145 143 780 -1.7 1 13 dbSNP_98 143 4154,4446 588.2+/-392.3 969,2216,1115 no coding-synonymous TPP2 NM_003291.2 1755,3299,1449 CC,CT,TT 48.3023,39.7413,47.6472 260/1250 103275386 6809,6197 2203 4300 6503 SO:0001819 synonymous_variant M55169 CCDS9502.1 13q32-q33 2008-02-05 ENSG00000134900 ENSG00000134900 7174 3.4.14.10 12016 protein-coding gene gene with protein product 190470 NA 1670990 Standard NM_003291 NA Approved uc001vpi.4 P29144 OTTHUMG00000017305 ENST00000376065.4:c.780T>C chr13.hg19:g.103275386T>C NA Q5VZU8 hg19 CCDS9502.1 0.02 9.656846 CAGxGGA COVERED NOVEL TPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045683.2 1 12.639096 KEEP 0 0 0 42 1358 TT 1 1 0 + 14 60 451 0 0 27.872976 258 60 9517 380 ENST00000376065.4 0.051471 1 TPP2 7174 __UNKNOWN__ __UNKNOWN__ 13 103290574 103290574 __UNKNOWN__ Intron SNP G G A rs614290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103290574G>A ENST00000376065.4 + 15 1872 TPP2_ENST00000376052.3_Intron NM_003291.2 NP_003282.2 P29144 TPP2_HUMAN tripeptidyl peptidase II NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240) breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GACACTTACCGATTCTTTTTT 0.388 NA A||| 2372 0.473642 0.618 0.3804 5008 , , NA 20741 0.4474 NA 0.4742 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 A 2654,1752 521.9+/-370.6 784,1086,333 85 83 83 -1 0 13 dbSNP_83 83 4146,4454 588.2+/-392.3 969,2208,1123 no intron TPP2 NM_003291.2 1753,3294,1456 AA,AG,GG 48.2093,39.764,47.7164 103290574 6800,6206 2203 4300 6503 SO:0001627 intron_variant M55169 CCDS9502.1 13q32-q33 2008-02-05 ENSG00000134900 ENSG00000134900 7174 3.4.14.10 12016 protein-coding gene gene with protein product 190470 NA 1670990 Standard NM_003291 NA Approved uc001vpi.4 P29144 OTTHUMG00000017305 ENST00000376065.4:c.1837-15G>A chr13.hg19:g.103290574G>A NA Q5VZU8 hg19 CCDS9502.1 0.02 18.572774 ACCxATT COVERED NOVEL TPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045683.2 5 8.631452 KEEP 0 3 95 62 2117 GG 1 1 0 + 21 60 805 0 0 54.208983 404 60 14330 617 ENST00000376065.4 0.049412 1 TPP2 7174 __UNKNOWN__ __UNKNOWN__ 13 103292810 103292810 __UNKNOWN__ Intron SNP G G A rs634293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103292810G>A ENST00000376065.4 + 16 2056 TPP2_ENST00000376052.3_Intron NM_003291.2 NP_003282.2 P29144 TPP2_HUMAN tripeptidyl peptidase II NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240) breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTTATCTGTAGCATGTATTTC 0.368 NA A||| 2371 0.473442 0.6172 0.3804 5008 , , NA 14467 0.4474 NA 0.4742 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M55169 CCDS9502.1 13q32-q33 2008-02-05 ENSG00000134900 ENSG00000134900 7174 3.4.14.10 12016 protein-coding gene gene with protein product 190470 NA 1670990 Standard NM_003291 NA Approved uc001vpi.4 P29144 OTTHUMG00000017305 ENST00000376065.4:c.2020+84G>A chr13.hg19:g.103292810G>A NA Q5VZU8 hg19 CCDS9502.1 0.02 6.249672 GTAxCAT COVERED NOVEL TPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045683.2 1 13.543544 KEEP 0 0 0 45 1597 GG 1 1 0 + 9 60 326 0 0 21.29336 175 60 6623 269 ENST00000376065.4 0.048913 1 TPP2 7174 __UNKNOWN__ __UNKNOWN__ 13 103330718 103330718 __UNKNOWN__ 3'UTR SNP G G A rs3806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103330718G>A ENST00000376065.4 + 0 3838 TPP2_ENST00000376052.3_3'UTR NM_003291.2 NP_003282.2 P29144 TPP2_HUMAN tripeptidyl peptidase II NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240) breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGTGAATGGGTATAAAAACA 0.308 NA A||| 2375 0.474241 0.618 0.3804 5008 , , NA 17036 0.4494 NA 0.4742 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 A 1621,1027 494,633,197 32 34 33 2.2 1 13 dbSNP_36 33 2204,2406 514,1176,615 no utr-3 TPP2 NM_003291.2 1008,1809,812 AA,AG,GG 47.8091,38.784,47.2995 103330718 3825,3433 1324 2305 3629 SO:0001624 3_prime_UTR_variant M55169 CCDS9502.1 13q32-q33 2008-02-05 ENSG00000134900 ENSG00000134900 7174 3.4.14.10 12016 protein-coding gene gene with protein product 190470 NA 1670990 Standard NM_003291 NA Approved uc001vpi.4 P29144 OTTHUMG00000017305 ENST00000376065.4:c.*52G>A chr13.hg19:g.103330718G>A NA Q5VZU8 hg19 CCDS9502.1 0.02 13.167326 TGGxTAT COVERED NOVEL TPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045683.2 1 9.966853 KEEP 0 1 31 44 1530 GG 1 1 0 + 21 60 771 0 0 53.329522 304 60 11265 412 ENST00000376065.4 0.064615 1 METTL21C 196541 __UNKNOWN__ __UNKNOWN__ 13 103339365 103339365 __UNKNOWN__ Silent SNP A A G rs660207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103339365A>G ENST00000267273.6 - 3 330 c.325T>C c.(325-327)Ttg>Ctg p.L109L NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 109 NA peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479) nucleus (GO:0005634) protein-lysine N-methyltransferase activity (GO:0016279) breast(1)|large_intestine(3)|lung(2)|skin(1) 7 TGGAAATTCAATTCCTCGGCA 0.393 NA G||| 2396 0.478435 0.6286 0.3847 5008 , , NA 19452 0.4544 NA 0.4712 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 G 2717,1689 512.9+/-368.2 821,1075,307 83 77 79 325 -0.1 0.9 13 dbSNP_83 79 4128,4472 590.2+/-392.6 955,2218,1127 no coding-synonymous METTL21C NM_001010977.1 1776,3293,1434 GG,GA,AA 48.0,38.3341,47.3704 109/265 103339365 6845,6161 2203 4300 6503 SO:0001819 synonymous_variant CCDS32003.1 13q33.1 2011-03-03 2011-03-03 2011-03-03 ENSG00000139780 ENSG00000139780 196541 33717 protein-coding gene gene with protein product 615259 chromosome 13 open reading frame 39 C13orf39 NA Standard NM_001010977 NM_001010977 NA Approved LOC196541 uc001vpj.4 Q5VZV1 OTTHUMG00000017304 ENST00000267273.6:c.325T>C chr13.hg19:g.103339365A>G NA hg19 CCDS32003.1 0.02 18.499548 TCAxTTC COVERED NOVEL METTL21C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045682.2 0 14.087694 KEEP 0 2 69 71 2262 AA 1 1 0 - 18 60 686 0 0 44.909287 403 60 14679 601 ENST00000267273.6 0.042755 1 CCDC168 643677 __UNKNOWN__ __UNKNOWN__ 13 103388370 103388370 __UNKNOWN__ Missense_Mutation SNP C C T rs9518825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103388370C>T ENST00000322527.2 - 1 789 c.790G>A c.(790-792)Ggt>Agt p.G264S NM_001146197.1 NP_001139669.1 Q8NDH2 CC168_HUMAN coiled-coil domain containing 168 264 NA G -> S (in dbSNP:rs9518825). p.G264S(2) NA AGTATTCTACCTTCCCTGCCT 0.398 NA C||| 1172 0.234026 0.2769 0.1931 5008 , , NA 22757 0.4097 NA 0.1123 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 2 Substitution - Missense(2) kidney(2) C SER/GLY 398,986 59,280,353 217 183 193 14677 2.3 0 13 dbSNP_119 193 404,2778 24,356,1211 yes missense CCDC168 NM_001146197.1 56 83,636,1564 TT,TC,CC 12.6964,28.7572,17.5646 probably-damaging 4893/7082 103388370 802,3764 692 1591 2283 SO:0001583 missense CCDS73596.1 13q33.1 2014-06-17 2011-08-09 2011-08-09 ENSG00000175820 ENSG00000175820 643677 26851 protein-coding gene gene with protein product chromosome 13 open reading frame 40 C13orf40 NA Standard NM_001146197 NM_001146197 NA Approved FLJ40176 uc001vpm.3 Q8NDH2 OTTHUMG00000187287 ENST00000322527.2:c.790G>A chr13.hg19:g.103388370C>T ENSP00000320232:p.Gly264Ser NA Q8N800 hg19 0.02 7.114954 TACxTTC COVERED 537 0.24587912087912087 127 0.258130081300813 73 0.20165745856353592 251 0.4388111888111888 86 0.11345646437994723 C 16.33 3.091642 0.55968 0.287572 0.126964 ENSG00000175820 ENST00000322527 T 0.05199 3.48 3.25 2.35 0.29111 . 0.246855 0.21252 N 0.077635 T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 D 0.71674 0.998 D 0.67725 0.953 T 0.06232 -1.0838 9 0.05620 T 0.96 . 7.5159 0.27600 0.2562:0.7438:0.0:0.0 rs9518825;rs17635161;rs52793883;rs61475030;rs9518825 264 Q8NDH2 CC168_HUMAN S 264 ENSP00000320232:G264S ENSP00000320232:G264S G - 1 0 CCDC168 102186371 0.000000 0.05858 0.006000 0.13384 0.433000 0.31745 -0.484000 0.06528 0.882000 0.36016 0.404000 0.27445 GGT NOVEL CCDC168-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 7.223362 KEEP 0 0 0 24 855 CC 0.999909 0.999909 0 - 7 60 272 0 0 17.980408 157 60 5852 216 ENST00000322527.2 0.042683 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 103397937 103397937 __UNKNOWN__ IGR SNP T T G rs9300759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103397937T>G NA NA LINC00283 (363 upstream) : TEX30 (20402 downstream) NA NA NA CATTTGGGATTCACTAAAGTT 0.388 NA T||| 1370 0.273562 0.3419 0.2406 5008 , , NA 21063 0.4087 NA 0.174 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 T HIS/ASN 456,928 76,304,312 135 115 121 5110 0.9 0 13 dbSNP_119 121 632,2548 70,492,1028 yes missense CCDC168 NM_001146197.1 68 146,796,1340 GG,GT,TT 19.8742,32.948,23.8387 1704/7082 103397937 1088,3476 692 1590 2282 SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.103397937T>G NA hg19 0.02 25.161961 GATxCAC COVERED NOVEL 0 3 18.353438 KEEP 0 0 0 61 1875 TT 1 1 0 25 60 952 0 0 62.13876 568 60 20406 719 0.042159 1 ERCC5 2073 __UNKNOWN__ __UNKNOWN__ 13 103498180 103498180 __UNKNOWN__ 5'UTR SNP C C A rs4150248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103498180C>A ENST00000355739.4 + 0 987 BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000535557.1_5'UTR NM_000123.3 NP_000114 P28715 ERCC5_HUMAN excision repair cross-complementation group 5 NA NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGACGGAAACCGAGCGGGCCC 0.602 NA Mis, N, F skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum C||| 204 0.0407348 0.1324 0.0043 5008 , , NA 18452 0.0139 NA 0.002 False NA ,,, NA NA NA 2504 0.0102 NA NA NA yes Rec Xeroderma pigmentosum (G) 13 13q33 2073 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV X71342 CCDS32004.1 13q22-q34 2014-09-17 2014-03-07 ENSG00000134899 ENSG00000134899 2073 3437 protein-coding gene gene with protein product Cockayne syndrome 133530 xeroderma pigmentosum, complementation group G, excision repair cross-complementing rodent repair deficiency, complementation group 5 ERCM2, XPGC NA 8088806 Standard NM_000123 NA Approved P28715 OTTHUMG00000017310 ENST00000355739.4:c.-437C>A chr13.hg19:g.103498180C>A NA A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60 hg19 CCDS32004.1 0.02 14.280008 AACxGAG COVERED NOVEL ERCC5-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045708.1 3 53.269508 KEEP 0 0 0 177 6092 CC 1 1 0 + 10 60 378 0 0 23.355265 303 60 10774 612 ENST00000355739.4 0.031949 1 ERCC5 2073 __UNKNOWN__ __UNKNOWN__ 13 103504344 103504344 __UNKNOWN__ Intron SNP A A G rs4150263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103504344A>G ENST00000355739.4 + 2 1511 BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000535557.1_Intron NM_000123.3 NP_000114 P28715 ERCC5_HUMAN excision repair cross-complementation group 5 NA NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATGTTTTTCAATTTTAAATGA 0.308 NA Mis, N, F skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum A||| 532 0.10623 0.3654 0.0288 5008 , , NA 16286 0.0169 NA 0.003 False NA ,,, NA NA NA 2504 0.0092 NA NA NA yes Rec Xeroderma pigmentosum (G) 13 13q33 2073 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV X71342 CCDS32004.1 13q22-q34 2014-09-17 2014-03-07 ENSG00000134899 ENSG00000134899 2073 3437 protein-coding gene gene with protein product Cockayne syndrome 133530 xeroderma pigmentosum, complementation group G, excision repair cross-complementing rodent repair deficiency, complementation group 5 ERCM2, XPGC NA 8088806 Standard NM_000123 NA Approved P28715 OTTHUMG00000017310 ENST00000355739.4:c.89-124A>G chr13.hg19:g.103504344A>G NA A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60 hg19 CCDS32004.1 0.02 2.070374 TCAxTTT COVERED NOVEL ERCC5-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045708.1 1 3.611122 KEEP 0 0 0 12 385 AA 0.993634 0.979875 0 + 4 60 152 0 0 10.757587 55 60 1959 74 ENST00000355739.4 0.067797 0.986153 BIVM-ERCC5 100533467 __UNKNOWN__ __UNKNOWN__ 13 103504517 103504517 __UNKNOWN__ Missense_Mutation SNP T T C rs1047768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103504517T>C ENST00000602836.1 + 10 1414 c.1414T>C c.(1414-1416)Tgg>Cgg p.W472R ERCC5_ENST00000535557.1_Silent_p.H46H|ERCC5_ENST00000355739.4_Silent_p.H46H NM_001204425.1 NP_001191354.1 BIVM-ERCC5 readthrough NA NA NA GGGATCGCCATGGGAACTCAA 0.393 NA C||| 2469 0.493011 0.6778 0.3991 5008 , , NA 14964 0.25 NA 0.5845 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 C , 2912,1494 478.3+/-358.2 970,972,261 148 149 149 138,1500 -0.4 0.9 13 dbSNP_86 149 5045,3555 516.8+/-378.9 1464,2117,719 no coding-synonymous,coding-synonymous ERCC5,BIVM-ERCC5 NM_000123.3,NM_001204425.1 , 2434,3089,980 CC,CT,TT 41.3372,33.9083,38.8205 , 46/1187,500/1641 103504517 7957,5049 2203 4300 6503 SO:0001583 missense AB209312 13q33.1 2013-05-10 ENSG00000270181 ENSG00000270181 100533467 43690 other readthrough NA Standard NM_001204425 NM_001204425 NA Approved OTTHUMG00000184166 ENST00000602836.1:c.1414T>C chr13.hg19:g.103504517T>C ENSP00000473384:p.Trp472Arg NA hg19 0.02 16.346301 CCAxGGG COVERED NOVEL BIVM-ERCC5-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000468168.1 3 3.315537 KEEP 0 6 206 83 2589 TT 1 1 0 + 12 60 425 0 0 24.758761 394 60 14717 622 ENST00000602836.1 0.029557 1 ERCC5 2073 __UNKNOWN__ __UNKNOWN__ 13 103510736 103510736 __UNKNOWN__ Missense_Mutation SNP C C T rs56255799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103510736C>T ENST00000355739.4 + 6 2063 c.640C>T c.(640-642)Cgc>Tgc p.R214C BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.A639V|ERCC5_ENST00000535557.1_Missense_Mutation_p.R214C NM_000123.3 NP_000114 P28715 ERCC5_HUMAN excision repair cross-complementation group 5 214 NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GTTCACCAAGCGCAGAAGAAC 0.378 NA Mis, N, F skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum C||| 26 0.00519169 0.0 0.0 5008 , , NA 19853 0.0149 NA 0.002 False NA ,,, NA NA NA 2504 0.0092 NA NA NA yes Rec Xeroderma pigmentosum (G) 13 13q33 2073 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) E 0 C CYS/ARG,CYS/ARG 3,4403 6.2+/-15.9 0,3,2200 101 103 102 640,2002 2.5 1 13 dbSNP_129 102 1,8599 1.2+/-3.3 0,1,4299 yes missense,missense ERCC5,BIVM-ERCC5 NM_000123.3,NM_001204425.1 180,180 0,4,6499 TT,TC,CC 0.0116,0.0681,0.0308 probably-damaging,probably-damaging 214/1187,668/1641 103510736 4,13002 2203 4300 6503 SO:0001583 missense Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV X71342 CCDS32004.1 13q22-q34 2014-09-17 2014-03-07 ENSG00000134899 ENSG00000134899 2073 3437 protein-coding gene gene with protein product Cockayne syndrome 133530 xeroderma pigmentosum, complementation group G, excision repair cross-complementing rodent repair deficiency, complementation group 5 ERCM2, XPGC NA 8088806 Standard NM_000123 NA Approved P28715 OTTHUMG00000017310 ENST00000355739.4:c.640C>T chr13.hg19:g.103510736C>T ENSP00000347978:p.Arg214Cys NA A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60 hg19 CCDS32004.1 0.02 14.311144 AAGxGCA COVERED 6 0.0027472527472527475 0 0.0 0 0.0 4 0.006993006993006993 2 0.002638522427440633 C 18.20 3.570686 0.65765 6.81E-4 1.16E-4 ENSG00000134899 ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955 T;T 0.35789 1.29;1.29 5.31 2.55 0.30701 . 0.000000 0.85682 D 0.000000 T 0.47875 0.1469 M 0.78049 2.395 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.994;1.0;0.997 T 0.52230 -0.8603 10 0.62326 D 0.03 -15.3668 8.3684 0.32399 0.3893:0.5415:0.0:0.0692 rs56255799 214;214;639 B4DSI5;P28715;Q59FZ7 .;ERCC5_HUMAN;. C 639;214;214;46 ENSP00000347978:R214C;ENSP00000442117:R214C ENSP00000347978:R214C R + 1 0 ERCC5 102308737 1.000000 0.71417 1.000000 0.80357 0.973000 0.67179 1.441000 0.35035 0.585000 0.29608 -0.182000 0.12963 CGC NOVEL ERCC5-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045708.1 4 25.581935 KEEP 0 0 0 85 2937 CC 1 1 0 + 10 60 367 0 0 21.436086 367 60 12641 567 ENST00000355739.4 0.026525 1 ERCC5 2073 __UNKNOWN__ __UNKNOWN__ 13 103513951 103513951 __UNKNOWN__ Missense_Mutation SNP A A G rs4150313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103513951A>G ENST00000355739.4 + 7 2190 c.767A>G c.(766-768)cAg>cGg p.Q256R BIVM-ERCC5_ENST00000602836.1_Silent_p.S681S NM_000123.3 NP_000114 P28715 ERCC5_HUMAN excision repair cross-complementation group 5 256 NA Q -> R (in dbSNP:rs4150313). {ECO:0000269|Ref.6}. DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GAAATGAATCAGCAACATTCA 0.423 NA Mis, N, F skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum A||| 187 0.0373403 0.1127 0.0159 5008 , , NA 15942 0.0149 NA 0.002 False NA ,,, NA NA NA 2504 0.0102 NA NA NA yes Rec Xeroderma pigmentosum (G) 13 13q33 2073 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) E 0 A ARG/GLN,ARG/GLN 320,4086 171.9+/-202.1 12,296,1895 141 141 141 767,2129 5.6 1 13 dbSNP_110 141 18,8582 13.3+/-46.6 0,18,4282 yes missense,missense ERCC5,BIVM-ERCC5 NM_000123.3,NM_001204425.1 43,43 12,314,6177 GG,GA,AA 0.2093,7.2628,2.5988 probably-damaging,probably-damaging 256/1187,710/1641 103513951 338,12668 2203 4300 6503 SO:0001583 missense Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV X71342 CCDS32004.1 13q22-q34 2014-09-17 2014-03-07 ENSG00000134899 ENSG00000134899 2073 3437 protein-coding gene gene with protein product Cockayne syndrome 133530 xeroderma pigmentosum, complementation group G, excision repair cross-complementing rodent repair deficiency, complementation group 5 ERCM2, XPGC NA 8088806 Standard NM_000123 NA Approved P28715 OTTHUMG00000017310 ENST00000355739.4:c.767A>G chr13.hg19:g.103513951A>G ENSP00000347978:p.Gln256Arg NA A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60 hg19 CCDS32004.1 0.02 5.706472 ATCxGCA COVERED 52 0.023809523809523808 40 0.08130081300813008 6 0.016574585635359115 4 0.006993006993006993 2 0.002638522427440633 A 27.8 4.860418 0.91433 0.072628 0.002093 ENSG00000134899 ENST00000418659;ENST00000355739;ENST00000375955 T 0.21734 1.99 5.59 5.59 0.84812 . 0.058531 0.64402 D 0.000002 T 0.03136 0.0092 M 0.70275 2.135 0.80722 D 1 P;D;D 0.76494 0.881;0.999;0.993 P;D;D 0.81914 0.569;0.995;0.968 T 0.02004 -1.1231 10 0.16896 T 0.51 -20.1278 15.774 0.78193 1.0:0.0:0.0:0.0 rs4150313;rs16960647;rs4150313 256;256;681 B4DSI5;P28715;Q59FZ7 .;ERCC5_HUMAN;. R 681;256;88 ENSP00000347978:Q256R ENSP00000347978:Q256R Q + 2 0 ERCC5 102311952 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 6.871000 0.75531 2.121000 0.65114 0.455000 0.32223 CAG NOVEL ERCC5-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045708.1 2 10.532587 KEEP 0 0 0 35 1125 AA 0.999999 0.999999 0 + 13 60 426 0 0 29.418826 142 60 5305 219 ENST00000355739.4 0.083871 1 ERCC5 2073 __UNKNOWN__ __UNKNOWN__ 13 103517607 103517607 __UNKNOWN__ Intron SNP C C T rs4150333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103517607C>T ENST00000355739.4 + 9 3377 BIVM-ERCC5_ENST00000602836.1_Intron|ERCC5_ENST00000375954.1_5'UTR NM_000123.3 NP_000114 P28715 ERCC5_HUMAN excision repair cross-complementation group 5 NA NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AGAGGAAGAACTATTTCTTAG 0.363 NA Mis, N, F skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum C||| 186 0.0371406 0.1127 0.0159 5008 , , NA 20323 0.0149 NA 0.002 False NA ,,, NA NA NA 2504 0.0092 NA NA NA yes Rec Xeroderma pigmentosum (G) 13 13q33 2073 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV X71342 CCDS32004.1 13q22-q34 2014-09-17 2014-03-07 ENSG00000134899 ENSG00000134899 2073 3437 protein-coding gene gene with protein product Cockayne syndrome 133530 xeroderma pigmentosum, complementation group G, excision repair cross-complementing rodent repair deficiency, complementation group 5 ERCM2, XPGC NA 8088806 Standard NM_000123 NA Approved P28715 OTTHUMG00000017310 ENST00000355739.4:c.1955-410C>T chr13.hg19:g.103517607C>T NA A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60 hg19 CCDS32004.1 0.02 6.076248 GAAxTAT COVERED NOVEL ERCC5-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045708.1 2 10.212785 KEEP 0 0 0 34 1181 CC 0.999998 0.999998 0 + 8 60 293 0 0 18.908604 172 60 6518 251 ENST00000355739.4 0.044444 1 SLC10A2 6555 __UNKNOWN__ __UNKNOWN__ 13 103698363 103698363 __UNKNOWN__ 3'UTR SNP A A G rs2301157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103698363A>G ENST00000245312.3 - 0 1763 NM_000452.2 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502) bile acid:sodium symporter activity (GO:0008508) breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577) ATGAATTCCAATGAAATTCCA 0.308 NA A||| 2166 0.432508 0.2368 0.4798 5008 , , NA 16975 0.3948 NA 0.5378 False NA ,,, NA NA NA 2504 0.5941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U10417 CCDS9506.1 13q33 2013-07-18 2013-07-18 ENSG00000125255 ENSG00000125255 6555 Solute carriers 10906 protein-coding gene gene with protein product 601295 ASBT, ISBT NA 8661017 Standard NM_000452 NA Approved uc001vpy.4 Q12908 OTTHUMG00000017313 ENST00000245312.3:c.*120T>C chr13.hg19:g.103698363A>G NA A1L4F4|Q13839 hg19 CCDS9506.1 0.02 3.868785 CCAxTGA COVERED NOVEL SLC10A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045716.1 0 4.211383 KEEP 0 0 0 14 433 AA 0.995343 0.995343 0 - 7 60 255 0 0 16.580644 142 60 5075 167 ENST00000245312.3 0.04698 1 SLC10A2 6555 __UNKNOWN__ __UNKNOWN__ 13 103703579 103703579 __UNKNOWN__ Intron SNP T T C rs8000956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:103703579T>C ENST00000245312.3 - 4 1358 NM_000452.2 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 NA NA bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810) apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502) bile acid:sodium symporter activity (GO:0008508) breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577) AGATTAAAATTCCCAATGTGA 0.418 NA T||| 2064 0.412141 0.1664 0.4784 5008 , , NA 19028 0.3958 NA 0.5338 False NA ,,, NA NA NA 2504 0.589 NA NA NA NA 0 T 1081,3325 371.2+/-319.9 141,799,1263 45 48 47 -1.9 0 13 dbSNP_116 47 4670,3930 590.7+/-392.7 1283,2104,913 no intron SLC10A2 NM_000452.2 1424,2903,2176 CC,CT,TT 45.6977,24.5347,44.2181 103703579 5751,7255 2203 4300 6503 SO:0001627 intron_variant U10417 CCDS9506.1 13q33 2013-07-18 2013-07-18 ENSG00000125255 ENSG00000125255 6555 Solute carriers 10906 protein-coding gene gene with protein product 601295 ASBT, ISBT NA 8661017 Standard NM_000452 NA Approved uc001vpy.4 Q12908 OTTHUMG00000017313 ENST00000245312.3:c.761+27A>G chr13.hg19:g.103703579T>C NA A1L4F4|Q13839 hg19 CCDS9506.1 0.02 6.948618 AATxCCC COVERED NOVEL SLC10A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045716.1 1 3.643276 KEEP 0 1 34 24 706 TT 0.999931 0.999931 0 - 10 60 354 0 0 23.311626 174 60 6190 252 ENST00000245312.3 0.054348 1 ARGLU1 55082 __UNKNOWN__ __UNKNOWN__ 13 107195689 107195689 __UNKNOWN__ 3'UTR SNP T T G rs77133948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:107195689T>G ENST00000400198.3 - 0 1721 NM_018011.3 NP_060481.3 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) mitochondrion (GO:0005739)|nucleus (GO:0005634) large_intestine(1)|lung(5)|pancreas(1) 7 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TTTAAGACTTTACTTTATTCA 0.289 NA T||| 51 0.0101837 0.0 0.0 5008 , , NA 15743 0.0476 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC071587 CCDS41906.1 13q33.3 2011-10-03 2007-11-28 ENSG00000134884 ENSG00000134884 55082 25482 protein-coding gene gene with protein product 614046 NA 21454576 Standard NM_018011 NM_018011 NA Approved FLJ10154 uc001vqk.4 Q9NWB6 OTTHUMG00000017321 ENST00000400198.3:c.*655A>C chr13.hg19:g.107195689T>G NA B4E0Y3|Q5T257|Q6IQ34 hg19 CCDS41906.1 0.02 6.335701 CTTxACT COVERED NOVEL ARGLU1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045727.1 1 13.237959 KEEP 0 0 0 44 1354 TT 1 1 0 - 6 60 228 0 0 14.004537 191 60 6826 281 ENST00000400198.3 0.030457 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 107220649 107220649 __UNKNOWN__ IGR SNP C C G rs11069649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:107220649C>G NA NA ARGLU1 (137 upstream) : LINC00551 (49508 downstream) NA NA NA TGGAGACTCTCCTTTTCGCCT 0.498 NA C||| 1779 0.355232 0.1445 0.4063 5008 , , NA 16392 0.6617 NA 0.2962 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.107220649C>G NA hg19 0.02 2.157479 TCTxCTT COVERED NOVEL 0 0 9.028814 KEEP 0 0 0 30 1017 CC 0.999997 0.99755 0 6 60 206 0 0 14.513212 66 60 2267 128 0.083333 0.997553 MYO16 23026 __UNKNOWN__ __UNKNOWN__ 13 109609951 109609951 __UNKNOWN__ Intron SNP G G A rs9559450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:109609951G>A ENST00000357550.2 + 16 1900 MYO16_ENST00000457511.2_Intron|MYO16_ENST00000251041.5_Intron|MYO16_ENST00000356711.2_Intron NM_001198950.1 NP_001185879.1 myosin XVI NA NA NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TCATTTTAGAGATCAAATACG 0.448 NA G||| 364 0.0726837 0.0106 0.0375 5008 , , NA 18365 0.1746 NA 0.0746 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32008.1, CCDS73598.1 13q33.3 2014-06-12 ENSG00000041515 ENSG00000041515 23026 Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing 29822 protein-coding gene gene with protein product neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107 615479 NA 11588169, 17029291, 21946561 Standard NM_015011 NM_001198950 NA Approved MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107 uc001vqt.1 Q9Y6X6 OTTHUMG00000017333 ENST00000357550.2:c.1860-85G>A chr13.hg19:g.109609951G>A NA hg19 CCDS32008.1 0.02 6.467281 AGAxATC COVERED NOVEL MYO16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045746.1 0 10.534917 KEEP 0 0 0 35 1296 GG 0.999999 0.999999 0 + 9 60 329 0 0 21.638149 173 60 6559 259 ENST00000357550.2 0.049451 1 MYO16 23026 __UNKNOWN__ __UNKNOWN__ 13 109779906 109779906 __UNKNOWN__ Intron SNP C C T rs3815983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:109779906C>T ENST00000357550.2 + 30 4026 MYO16_ENST00000457511.2_Silent_p.P843P|MYO16_ENST00000356711.2_Intron NM_001198950.1 NP_001185879.1 myosin XVI NA NA NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AAGGTCAGCCCTGGGGAGGGA 0.627 NA C||| 1600 0.319489 0.1778 0.4323 5008 , , NA 11994 0.376 NA 0.3618 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 C , 883,3517 88,707,1405 15 18 17 , -11 0 13 dbSNP_107 17 3041,5549 520,2001,1774 no intron,intron MYO16 NM_001198950.1,NM_015011.1 , 608,2708,3179 TT,TC,CC 35.4016,20.0682,30.2079 , , 109779906 3924,9066 2200 4295 6495 SO:0001627 intron_variant CCDS32008.1, CCDS73598.1 13q33.3 2014-06-12 ENSG00000041515 ENSG00000041515 23026 Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing 29822 protein-coding gene gene with protein product neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107 615479 NA 11588169, 17029291, 21946561 Standard NM_015011 NM_001198950 NA Approved MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107 uc001vqt.1 Q9Y6X6 OTTHUMG00000017333 ENST00000357550.2:c.3985+8C>T chr13.hg19:g.109779906C>T NA hg19 CCDS32008.1 0.02 6.208299 GCCxTGG COVERED NOVEL MYO16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045746.1 2 12.676292 KEEP 0 1 31 53 1908 CC 1 1 0 + 8 60 288 0 0 18.740189 156 60 5886 258 ENST00000357550.2 0.04878 1 MYO16 23026 __UNKNOWN__ __UNKNOWN__ 13 109859945 109859945 __UNKNOWN__ 3'UTR SNP T T C rs9559516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:109859945T>C ENST00000357550.2 + 0 6379 MYO16_ENST00000356711.2_3'UTR NM_001198950.1 NP_001185879.1 myosin XVI NA NA NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GTGGATTGTGTACCCTTTAGT 0.438 NA C||| 2672 0.533546 0.6808 0.379 5008 , , NA 17225 0.8224 NA 0.2684 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32008.1, CCDS73598.1 13q33.3 2014-06-12 ENSG00000041515 ENSG00000041515 23026 Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing 29822 protein-coding gene gene with protein product neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107 615479 NA 11588169, 17029291, 21946561 Standard NM_015011 NM_001198950 NA Approved MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107 uc001vqt.1 Q9Y6X6 OTTHUMG00000017333 ENST00000357550.2:c.*761T>C chr13.hg19:g.109859945T>C NA hg19 CCDS32008.1 0.02 6.472907 GTGxACC COVERED NOVEL MYO16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045746.1 2 5.112537 KEEP 0 0 0 17 482 TT 0.999366 0.999366 0 + 10 60 370 0 0 25.260983 160 60 5367 207 ENST00000357550.2 0.058824 1 MYO16 23026 __UNKNOWN__ __UNKNOWN__ 13 109860174 109860174 __UNKNOWN__ 3'UTR SNP A A G rs7993754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:109860174A>G ENST00000357550.2 + 0 6608 MYO16_ENST00000356711.2_3'UTR NM_001198950.1 NP_001185879.1 myosin XVI NA NA NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TGATTCCCTCACTGTATATCC 0.532 NA G||| 3572 0.713259 0.9228 0.6138 5008 , , NA 19302 0.8284 NA 0.493 False NA ,,, NA NA NA 2504 0.6084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32008.1, CCDS73598.1 13q33.3 2014-06-12 ENSG00000041515 ENSG00000041515 23026 Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing 29822 protein-coding gene gene with protein product neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107 615479 NA 11588169, 17029291, 21946561 Standard NM_015011 NM_001198950 NA Approved MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107 uc001vqt.1 Q9Y6X6 OTTHUMG00000017333 ENST00000357550.2:c.*990A>G chr13.hg19:g.109860174A>G NA hg19 CCDS32008.1 0.02 9.886509 CTCxCTG COVERED NOVEL MYO16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045746.1 1 12.636323 KEEP 0 0 0 42 1277 AA 1 1 0 + 16 60 542 0 0 37.601649 185 60 6631 289 ENST00000357550.2 0.079602 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 110784411 110784411 __UNKNOWN__ IGR SNP C C T rs9559738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:110784411C>T NA NA RN7SL783P (33913 upstream) : COL4A1 (16906 downstream) NA NA NA AAATAAGGCACACAGTTTACA 0.338 NA C||| 1849 0.369209 0.2572 0.4467 5008 , , NA 17807 0.6726 NA 0.2376 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.110784411C>T NA hg19 0.02 1.772159 GCAxACA COVERED NOVEL 0 0 4.514866 KEEP 0 0 0 15 540 CC 0.99649 0.996385 0 5 60 187 1 0 12.628375 88 60 3351 128 0.053763 0.999895 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110813709 110813709 __UNKNOWN__ Silent SNP G G A rs1133219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:110813709G>A ENST00000375820.4 - 49 4591 c.4470C>T c.(4468-4470)gcC>gcT p.A1490A COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1490 Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}. NA A -> T (in Ref. 17; ABE73157). {ECO:0000305}. axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGCAGCTGCCGGCCGTGCCTA 0.438 NA G||| 1542 0.307907 0.3563 0.2536 5008 , , NA 21124 0.2123 NA 0.3419 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 G 1661,2745 497.6+/-363.9 305,1051,847 70 55 60 4470 -8.6 0.9 13 dbSNP_86 60 2979,5621 451.5+/-362.7 549,1881,1870 no coding-synonymous COL4A1 NM_001845.4 854,2932,2717 AA,AG,GG 34.6395,37.6986,35.6758 1490/1670 110813709 4640,8366 2203 4300 6503 SO:0001819 synonymous_variant J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.4470C>T chr13.hg19:g.110813709G>A NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 11.214526 GCCxGCC COVERED NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 0 17.73073 KEEP 0 0 0 59 2001 GG 1 1 0 - 22 60 808 0 0 57.634176 265 60 9130 434 ENST00000375820.4 0.076655 1 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110818598 110818598 __UNKNOWN__ Missense_Mutation SNP T T G rs3742207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:110818598T>G ENST00000375820.4 - 45 4123 c.4002A>C c.(4000-4002)caA>caC p.Q1334H NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1334 Triple-helical region. NA Q -> H (in dbSNP:rs3742207). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:21527998}. axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCGGGACGCCTTGATCGCCTT 0.473 NA T||| 1444 0.288339 0.2882 0.2334 5008 , , NA 18983 0.2629 NA 0.325 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 GRCh37 CM083606 COL4A1 M rs3742207 T HIS/GLN 1243,3163 428.5+/-341.9 179,885,1139 183 167 173 http://www.ncbi.nlm.nih.gov/pubmed?term 4002 -1.2 0.9 13 dbSNP_107 173 2935,5665 457.2+/-364.3 501,1933,1866 yes missense COL4A1 NM_001845.4 24 680,2818,3005 GG,GT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 34.1279,28.2115,32.1236 benign 1334/1670 110818598 4178,8828 2203 4300 6503 SO:0001583 missense J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.4002A>C chr13.hg19:g.110818598T>G ENSP00000364979:p.Gln1334His NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 11.196588 GCCxTGA COVERED 639 0.2925824175824176 142 0.2886178861788618 89 0.24585635359116023 142 0.24825174825174826 266 0.35092348284960423 T 6.850 0.526111 0.13066 0.282115 0.341279 ENSG00000187498 ENST00000375815;ENST00000375820;ENST00000397198 D 0.93307 -3.2 4.68 -1.19 0.09585 . 0.072729 0.56097 D 0.000024 T 0.00012 0.0000 L 0.33093 0.98 0.09310 P 0.9999999999992717 B 0.29988 0.264 B 0.37550 0.253 T 0.04065 -1.0980 9 0.39692 T 0.17 . 10.2129 0.43152 0.0:0.3302:0.0:0.6698 rs3742207;rs17517176;rs61457243;rs3742207 1334 P02462 CO4A1_HUMAN H 977;1334;983 ENSP00000364979:Q1334H ENSP00000364973:Q977H Q - 3 2 COL4A1 109616599 1.000000 0.71417 0.874000 0.34290 0.050000 0.14768 0.460000 0.21924 -0.086000 0.12550 -1.070000 0.02257 CAA NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 2 18.95772 KEEP 0 0 0 63 2019 TT 1 1 0 - 12 60 434 0 0 27.876732 255 60 9431 385 ENST00000375820.4 0.044944 1 COL4A1 1282 __UNKNOWN__ __UNKNOWN__ 13 110851014 110851014 __UNKNOWN__ Intron SNP G G C rs496916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:110851014G>C ENST00000375820.4 - 21 1242 COL4A1_ENST00000543140.1_Intron NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 NA NA axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576) extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AGTAACCTCAGGGCCACTTAG 0.493 NA G||| 1946 0.388578 0.3048 0.2522 5008 , , NA 19555 0.497 NA 0.3718 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 G 1325,3081 415.7+/-337.3 209,907,1087 47 43 44 -3.3 0 13 dbSNP_83 44 3102,5496 450.4+/-362.4 572,1958,1769 no intron COL4A1 NM_001845.4 781,2865,2856 CC,CG,GG 36.0782,30.0726,34.0434 110851014 4427,8577 2203 4299 6502 SO:0001627 intron_variant J04217 CCDS9511.1 13q34 2013-09-05 ENSG00000187498 ENSG00000187498 1282 Collagens 2202 protein-coding gene gene with protein product 120130 NA 3691802 Standard NM_001845 NA Approved uc001vqw.4 P02462 OTTHUMG00000017342 ENST00000375820.4:c.1121-36C>G chr13.hg19:g.110851014G>C NA A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5 hg19 CCDS9511.1 0.02 8.249716 TCAxGGC COVERED NOVEL COL4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045759.3 1 13.615783 KEEP 0 2 68 69 2451 GG 1 1 0 - 10 60 329 0 0 20.14949 207 60 7787 371 ENST00000375820.4 0.046083 1 CARKD 55739 __UNKNOWN__ __UNKNOWN__ 13 111279817 111279817 __UNKNOWN__ Missense_Mutation SNP A A G rs3742191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111279817A>G ENST00000309957.2 + 5 432 c.418A>G c.(418-420)Aag>Gag p.K140E CARKD_ENST00000397191.4_Missense_Mutation_p.K77E|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.K30E NM_001242881.1|NM_018210.3 NP_001229810.1|NP_060680.2 carbohydrate kinase domain containing NA NA NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 TGAGGTGGAGAAGTGGCTGCC 0.478 NA A||| 311 0.0621006 0.0204 0.0922 5008 , , NA 16742 0.1091 NA 0.0358 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 A GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS 121,4285 91.1+/-129.8 2,117,2084 117 98 104 418,364,88,418 -0.2 0 13 dbSNP_107 104 315,8285 112.0+/-172.2 5,305,3990 no missense,missense,missense,missense CARKD NM_001242881.1,NM_001242882.1,NM_001242883.1,NM_018210.3 56,56,56,56 7,422,6074 GG,GA,AA 3.6628,2.7463,3.3523 benign,benign,benign,benign 140/348,122/330,30/238,140/391 111279817 436,12570 2203 4300 6503 SO:0001583 missense AF151071 CCDS9513.1, CCDS55903.1 13q34 2008-12-19 ENSG00000213995 ENSG00000213995 55739 25576 protein-coding gene gene with protein product 615910 NA Standard NM_018210 NM_018210 NA Approved LP3298, FLJ10769 uc001vrc.3 Q8IW45 OTTHUMG00000017345 ENST00000309957.2:c.418A>G chr13.hg19:g.111279817A>G ENSP00000311984:p.Lys140Glu NA hg19 CCDS9513.1 0.02 2.110103 GAGxAGT COVERED 115 0.052655677655677656 11 0.022357723577235773 28 0.07734806629834254 45 0.07867132867132867 31 0.040897097625329816 A 4.322 0.059086 0.08339 0.027463 0.036628 ENSG00000213995 ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957 T;T;T 0.20200 2.15;2.09;2.15 5.13 -0.227 0.13102 Uncharacterised domain, carbohydrate kinase-related (3); 0.276420 0.39274 N 0.001406 T 0.00356 0.0011 N 0.05259 -0.085 0.09310 N 0.999997 B;B;B;B;B 0.19445 0.002;0.001;0.034;0.036;0.001 B;B;B;B;B 0.21360 0.011;0.006;0.034;0.021;0.006 T 0.32851 -0.9891 10 0.06494 T 0.89 -0.249 5.5108 0.16880 0.6381:0.1353:0.2266:0.0 rs3742191;rs3742191 30;122;77;140;140 Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45 .;.;.;.;CARKD_HUMAN E 30;122;77;140 ENSP00000413191:K30E;ENSP00000380375:K77E;ENSP00000311984:K140E ENSP00000311984:K140E K + 1 0 CARKD 110077818 0.887000 0.30362 0.000000 0.03702 0.324000 0.28378 1.784000 0.38674 -0.259000 0.09432 0.459000 0.35465 AAG NOVEL CARKD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045764.1 0 11.131442 KEEP 0 0 0 37 1136 AA 1 0.999962 0 + 5 60 188 0 0 12.569272 95 60 3412 173 ENST00000309957.2 0.05 0.999962 CARS2 79587 __UNKNOWN__ __UNKNOWN__ 13 111298392 111298392 __UNKNOWN__ Silent SNP A A G rs436462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111298392A>G ENST00000257347.4 - 12 1302 c.1239T>C c.(1237-1239)gaT>gaC p.D413D CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 413 NA cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) cytosol (GO:0005829)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) GTGTGTCAAAATCATCTGCCA 0.612 NA G||| 2375 0.474241 0.6233 0.5346 5008 , , NA 17839 0.4246 NA 0.3082 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 G 2575,1831 532.8+/-373.5 750,1075,378 153 134 141 1239 4.8 1 13 dbSNP_80 141 2794,5806 677.7+/-403.4 438,1918,1944 no coding-synonymous CARS2 NM_024537.2 1188,2993,2322 GG,GA,AA 32.4884,41.557,41.2809 413/565 111298392 5369,7637 2203 4300 6503 SO:0001819 synonymous_variant BC007220 CCDS9514.1 13q34 2011-07-01 2007-02-22 ENSG00000134905 ENSG00000134905 79587 6.1.1.16 Aminoacyl tRNA synthetases / Class I 25695 protein-coding gene gene with protein product cysteine tRNA ligase 2, mitochondrial (putative) 612800 NA 15779907 Standard NM_024537 NM_024537 NA Approved FLJ12118 uc001vrd.2 Q9HA77 OTTHUMG00000017347 ENST00000257347.4:c.1239T>C chr13.hg19:g.111298392A>G NA Q8NI84|Q96IV4 hg19 CCDS9514.1 0.02 4.657391 AAAxTCA COVERED NOVEL CARS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045772.3 1 9.398502 KEEP 0 2 68 55 1753 AA 1 0.999997 0 - 10 60 387 0 0 28.678622 106 60 3890 231 ENST00000257347.4 0.086207 0.999997 ING1 3621 __UNKNOWN__ __UNKNOWN__ 13 111371444 111371444 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111371444T>G ENST00000333219.7 + 2 1008 ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000375774.3_Intron|ING1_ENST00000338450.7_Intron NM_001267728.1|NM_198219.2 NP_001254657.1|NP_937862.1 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 NA NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941) nucleus (GO:0005634) methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270) endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) CTGTGGCTGGTGGGCTTTGTT 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1 13q34 2013-01-28 ENSG00000153487 ENSG00000153487 3621 Zinc fingers, PHD-type 6062 protein-coding gene gene with protein product inhibitor of growth 1, tumor suppressor ING1, growth inhibitor ING1, growth inhibitory protein ING1 601566 NA 8944021, 9186514 Standard NM_005537 NM_198219 NA Approved p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a uc001vri.3 Q9UK53 OTTHUMG00000017346 ENST00000333219.7:c.137-132T>G chr13.hg19:g.111371444T>G NA O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52 hg19 CCDS9516.1 0.02 2.79263 TGGxGGG COVERED NOVEL ING1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045767.1 2 7.37272 KEEP 0 4 36 38 931 TT 1 0.999997 0 + 29 60 420 0 0 27.636965 86 60 2348 179 ENST00000333219.7 0.252174 0.999997 ANKRD10 55608 __UNKNOWN__ __UNKNOWN__ 13 111558586 111558586 __UNKNOWN__ Intron SNP T T C rs74592194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111558586T>C ENST00000310847.4 - 3 435 ANKRD10_ENST00000489973.2_Intron|ANKRD10_ENST00000375758.5_Intron|ANKRD10_ENST00000267339.2_Intron Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 NA NA central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3) 9 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) AAGTAAAACATGTTGAGCAAG 0.368 NA T||| 3 0.000599042 0.0 0.0 5008 , , NA 22754 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000100 CCDS9520.1, CCDS66580.1 13q33.3 2013-01-10 ENSG00000088448 ENSG00000088448 55608 Ankyrin repeat domain containing 20265 protein-coding gene gene with protein product NA Standard NM_017664 NA Approved FLJ20093 uc001vrn.3 Q9NXR5 OTTHUMG00000017349 ENST00000310847.4:c.364-115A>G chr13.hg19:g.111558586T>C NA Q5VW12|Q9BV12 hg19 0.02 1.715831 ACAxGTT COVERED NOVEL ANKRD10-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000045784.1 0 2.708539 KEEP 0 0 0 9 295 TT 0.99254 0.9667 0 - 5 60 161 0 0 11.254459 49 60 1776 65 ENST00000310847.4 0.092593 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 111591265 111591265 __UNKNOWN__ IGR SNP G G A rs2239661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111591265G>A NA NA ANKRD10 (23849 upstream) : LINC00431 (44388 downstream) NA NA NA GGGCAGCAGCGACTCTCAGAT 0.542 NA g||| 1105 0.220647 0.3427 0.1499 5008 , , NA 20517 0.2847 NA 0.1223 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.111591265G>A NA hg19 0.02 1.798786 AGCxACT COVERED NOVEL 0 2 3.009261 KEEP 1 0 0 10 326 GG 0.99254 0.992377 0 5 60 180 0 0 12.003236 85 60 2899 124 0.055556 0.999835 Unknown 0 __UNKNOWN__ __UNKNOWN__ 13 111605185 111605185 __UNKNOWN__ IGR SNP G G A rs371396898 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111605185G>A NA NA ANKRD10 (37769 upstream) : LINC00431 (30468 downstream) NA NA NA AGATCACGTTGGAGTCGGCCC 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr13.hg19:g.111605185G>A NA hg19 0.02 7.379934 GTTxGAG COVERED NOVEL 0 0 7.357043 KEEP 0 1 30 35 1164 GG 0.999999 0.999999 0 23 60 871 0 0 69.140147 142 60 5269 240 0.139394 1 ARHGEF7 8874 __UNKNOWN__ __UNKNOWN__ 13 111767056 111767056 __UNKNOWN__ 5'UTR SNP G G T rs9555770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111767056G>T ENST00000317133.5 + 0 91 ARHGEF7-AS2_ENST00000425094.2_RNA Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 NA NA apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACCTTCCCCCGGCAGGGTCTG 0.736 NA G||| 1692 0.337859 0.0318 0.4769 5008 , , NA 10458 0.6389 NA 0.2952 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D63476 CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1 13q33.3 2013-01-10 ENSG00000102606 ENSG00000102606 8874 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15607 protein-coding gene gene with protein product SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7 605477 NA 9207241, 9726964 Standard NM_001113511 NM_003899 NA Approved KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50 uc001vrs.2 Q14155 OTTHUMG00000017357 ENST00000317133.5:c.-818G>T chr13.hg19:g.111767056G>T NA B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1 hg19 CCDS32009.1 0.02 10.510583 CCCxGCA COVERED NOVEL ARHGEF7-008 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000355033.1 3 22.723798 KEEP 0 8 237 159 5298 GG 1 1 0 + 11 60 399 0 0 25.06547 266 60 9072 590 ENST00000317133.5 0.039711 1 ARHGEF7 8874 __UNKNOWN__ __UNKNOWN__ 13 111806245 111806245 __UNKNOWN__ 5'UTR SNP A A G rs61966721 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111806245A>G ENST00000218789.5 + 0 185 ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Intron|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000317133.5_Intron|ARHGEF7_ENST00000375741.2_Intron|ARHGEF7_ENST00000544132.1_Intron Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 NA NA apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TGTGCTCTGTATTGCAGGTCT 0.726 NA G||| 2261 0.451478 0.3729 0.3242 5008 , , NA 12106 0.6796 NA 0.3817 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 G ,,, 1524,2878 278,968,955 20 22 21 ,,, 3.5 0.3 13 dbSNP_129 21 3133,5463 557,2019,1722 no intron,intron,utr-5,intron ARHGEF7 NM_001113511.1,NM_001113512.1,NM_003899.3,NM_145735.2 ,,, 835,2987,2677 GG,GA,AA 36.4472,34.6206,35.8286 ,,, ,,, 111806245 4657,8341 2201 4298 6499 SO:0001623 5_prime_UTR_variant D63476 CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1 13q33.3 2013-01-10 ENSG00000102606 ENSG00000102606 8874 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15607 protein-coding gene gene with protein product SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7 605477 NA 9207241, 9726964 Standard NM_001113511 NM_003899 NA Approved KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50 uc001vrs.2 Q14155 OTTHUMG00000017357 ENST00000218789.5:c.-313A>G chr13.hg19:g.111806245A>G NA B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1 hg19 0.02 6.361733 TGTxTTG COVERED NOVEL ARHGEF7-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000045805.3 0 38.883144 KEEP 0 2 71 154 4699 AA 1 1 0 + 9 60 340 0 0 22.480703 185 60 6602 492 ENST00000218789.5 0.046392 1 ARHGEF7 8874 __UNKNOWN__ __UNKNOWN__ 13 111870037 111870037 __UNKNOWN__ Silent SNP T T C rs2296354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111870037T>C ENST00000218789.5 + 4 506 c.9T>C c.(7-9)gaT>gaC p.D3D ARHGEF7_ENST00000426073.2_Silent_p.D3D|ARHGEF7_ENST00000370623.3_Silent_p.D88D|ARHGEF7_ENST00000375739.2_Silent_p.D131D|ARHGEF7_ENST00000375723.1_Silent_p.D3D|ARHGEF7_ENST00000375737.5_Silent_p.D78D|ARHGEF7_ENST00000375736.4_Silent_p.D3D|ARHGEF7_ENST00000317133.5_Silent_p.D160D|ARHGEF7_ENST00000375741.2_Silent_p.D181D|ARHGEF7_ENST00000544132.1_5'UTR Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 181 CH. {ECO:0000255|PROSITE- ProRule:PRU00044}. NA apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACATGACCGATAATAGCAACA 0.388 NA T||| 1246 0.248802 0.025 0.1225 5008 , , NA 18731 0.6825 NA 0.174 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 T ,,,, 223,4183 134.5+/-170.7 3,217,1983 115 109 111 543,393,9,9,480 -3.1 0.4 13 dbSNP_100 111 1437,7163 276.7+/-292.4 115,1207,2978 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ARHGEF7 NM_001113511.1,NM_001113512.1,NM_001113513.1,NM_003899.3,NM_145735.2 ,,,, 118,1424,4961 CC,CT,TT 16.7093,5.0613,12.7633 ,,,, 181/804,131/754,3/647,3/647,160/783 111870037 1660,11346 2203 4300 6503 SO:0001819 synonymous_variant D63476 CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1 13q33.3 2013-01-10 ENSG00000102606 ENSG00000102606 8874 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15607 protein-coding gene gene with protein product SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7 605477 NA 9207241, 9726964 Standard NM_001113511 NM_003899 NA Approved KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50 uc001vrs.2 Q14155 OTTHUMG00000017357 ENST00000218789.5:c.9T>C chr13.hg19:g.111870037T>C NA B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1 hg19 0.02 36.272684 CGAxAAT COVERED NOVEL ARHGEF7-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000045805.3 3 55.195731 KEEP 0 1 33 195 6069 TT 1 1 0 + 36 60 1356 0 0 88.145159 810 60 29628 1288 ENST00000218789.5 0.042553 1 ARHGEF7 8874 __UNKNOWN__ __UNKNOWN__ 13 111933098 111933098 __UNKNOWN__ Intron SNP C C G rs2296353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111933098C>G ENST00000218789.5 + 14 1751 ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Intron|ARHGEF7_ENST00000375723.1_Intron|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000317133.5_Intron|ARHGEF7_ENST00000478679.1_Intron|ARHGEF7_ENST00000375741.2_Intron|ARHGEF7_ENST00000544132.1_Intron Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 NA NA apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AGCAAGTGATCAGTTGCTTTA 0.463 NA C||| 2275 0.454273 0.4047 0.2839 5008 , , NA 20910 0.7421 NA 0.2883 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D63476 CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1 13q33.3 2013-01-10 ENSG00000102606 ENSG00000102606 8874 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15607 protein-coding gene gene with protein product SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7 605477 NA 9207241, 9726964 Standard NM_001113511 NM_003899 NA Approved KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50 uc001vrs.2 Q14155 OTTHUMG00000017357 ENST00000218789.5:c.1254+74C>G chr13.hg19:g.111933098C>G NA B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1 hg19 0.02 -0.377249 GATxAGT COVERED NOVEL ARHGEF7-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000045805.3 1 2.708761 KEEP 0 0 0 9 318 CC 0.99254 0.902287 0 + 3 60 115 0 0 8.206772 40 60 1494 53 ENST00000218789.5 0.069767 0.909069 ARHGEF7 8874 __UNKNOWN__ __UNKNOWN__ 13 111957869 111957869 __UNKNOWN__ 3'UTR SNP G G A rs6692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:111957869G>A ENST00000218789.5 + 0 5024 ARHGEF7_ENST00000426073.2_3'UTR|ARHGEF7_ENST00000370623.3_3'UTR|ARHGEF7_ENST00000375736.4_3'UTR Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 NA NA apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234) guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GTCCACATGCGCTGGGCGTCT 0.517 NA G||| 1320 0.263578 0.1301 0.1009 5008 , , NA 19287 0.6548 NA 0.169 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D63476 CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1 13q33.3 2013-01-10 ENSG00000102606 ENSG00000102606 8874 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 15607 protein-coding gene gene with protein product SH3 domain-containing proline-rich protein, PAK-interacting exchange factor beta, rho, guanine nucleotide exchange factor 7 605477 NA 9207241, 9726964 Standard NM_001113511 NM_003899 NA Approved KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50 uc001vrs.2 Q14155 OTTHUMG00000017357 ENST00000218789.5:c.*2409G>A chr13.hg19:g.111957869G>A NA B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1 hg19 0.02 1.863207 TGCxCTG COVERED NOVEL ARHGEF7-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000045805.3 0 4.514173 KEEP 0 0 0 15 499 GG 0.99649 0.996398 0 + 7 60 246 0 0 17.125176 87 60 3027 125 ENST00000218789.5 0.074468 0.999907 ATP11A 23250 __UNKNOWN__ __UNKNOWN__ 13 113527967 113527967 __UNKNOWN__ Silent SNP G G A rs1320525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113527967G>A ENST00000487903.1 + 27 3226 c.3138G>A c.(3136-3138)tcG>tcA p.S1046S ATP11A_ENST00000375645.3_Silent_p.S1046S|ATP11A_ENST00000283558.8_Silent_p.S1046S|ATP11A_ENST00000375630.2_Silent_p.S1046S P98196 AT11A_HUMAN ATPase, class VI, type 11A 1046 NA phospholipid translocation (GO:0045332) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TTGTCTTTTCGCTTCTCTGGG 0.393 NA OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay G||| 1877 0.3748 0.298 0.3761 5008 , , NA 21339 0.4742 NA 0.3658 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 G , 1360,3046 451.2+/-349.6 220,920,1063 205 169 181 3138,3138 2.5 1 13 dbSNP_88 181 3364,5236 499.4+/-375.0 674,2016,1610 no coding-synonymous,coding-synonymous ATP11A NM_015205.2,NM_032189.3 , 894,2936,2673 AA,AG,GG 39.1163,30.867,36.3217 , 1046/1135,1046/1192 113527967 4724,8282 2203 4300 6503 SO:0001819 synonymous_variant AB028944 CCDS32011.1 13q34 2010-04-20 2007-09-19 ENSG00000068650 ENSG00000068650 23250 3.6.3.1 ATPases / P-type 13552 protein-coding gene gene with protein product potential phospholipid-transporting ATPase IH, phospholipid-translocating ATPase 605868 ATPase, Class VI, type 11A NA 11015572 Standard NM_015205 NM_032189 NA Approved ATPIH, ATPIS, KIAA1021 uc001vsj.4 P98196 OTTHUMG00000017371 ENST00000487903.1:c.3138G>A chr13.hg19:g.113527967G>A 1451 Q5VXT2 hg19 CCDS32011.1 0.02 10.639955 TTCxCTT COVERED NOVEL ATP11A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000045834.3 3 18.058865 KEEP 0 0 0 60 2126 GG 1 1 0 + 9 60 320 0 0 19.493129 240 60 8903 371 ENST00000487903.1 0.036145 1 ATP11A 23250 __UNKNOWN__ __UNKNOWN__ 13 113537311 113537311 __UNKNOWN__ 3'UTR SNP C C T rs3742232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113537311C>T ENST00000487903.1 + 0 4687 ATP11A_ENST00000375645.3_3'UTR|ATP11A_ENST00000375630.2_3'UTR P98196 AT11A_HUMAN ATPase, class VI, type 11A NA NA phospholipid translocation (GO:0045332) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCTCTGCGTccccacgtcccc 0.697 NA C||| 2292 0.457668 0.1936 0.487 5008 , , NA 13119 0.627 NA 0.496 False NA ,,, NA NA NA 2504 0.5798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028944 CCDS32011.1 13q34 2010-04-20 2007-09-19 ENSG00000068650 ENSG00000068650 23250 3.6.3.1 ATPases / P-type 13552 protein-coding gene gene with protein product potential phospholipid-transporting ATPase IH, phospholipid-translocating ATPase 605868 ATPase, Class VI, type 11A NA 11015572 Standard NM_015205 NM_032189 NA Approved ATPIH, ATPIS, KIAA1021 uc001vsj.4 P98196 OTTHUMG00000017371 ENST00000487903.1:c.*1194C>T chr13.hg19:g.113537311C>T NA Q5VXT2 hg19 CCDS32011.1 0.02 9.151676 GTCxCCA COVERED NOVEL ATP11A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000045834.3 2 18.22909 KEEP 0 2 64 83 2949 CC 1 1 0 + 9 60 339 0 0 21.878662 211 60 7750 404 ENST00000487903.1 0.040909 1 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113563650 113563650 __UNKNOWN__ 3'UTR SNP T T C rs12873277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113563650T>C ENST00000397036.1 + 0 261 MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCTTCACCTCTGTGTCTACAG 0.617 NA T||| 416 0.0830671 0.003 0.0634 5008 , , NA 17345 0.2411 NA 0.0676 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000397036.1:c.*58T>C chr13.hg19:g.113563650T>C NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 0.02 11.207637 CTCxGTG COVERED NOVEL MCF2L-015 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000045863.2 0 8.726386 KEEP 0 0 0 29 904 TT 0.999997 0.999997 0 + 11 60 376 0 0 23.167868 254 60 9286 348 ENST00000397036.1 0.041509 1 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113729535 113729535 __UNKNOWN__ Intron SNP C C T rs3764120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113729535C>T ENST00000535094.2 + 11 1467 MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron NM_001112732.2 NP_001106203.2 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCCACTCCCCCCCAGCTGCGG 0.667 NA C||| 439 0.0876597 0.0061 0.0735 5008 , , NA 13351 0.2431 NA 0.0775 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 C , 72,4262 0,72,2095 7 9 8 , -0.8 0 13 dbSNP_107 8 643,7835 10,623,3606 no intron,intron MCF2L NM_001112732.2,NM_024979.4 , 10,695,5701 TT,TC,CC 7.5843,1.6613,5.5807 , , 113729535 715,12097 2167 4239 6406 SO:0001627 intron_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000535094.2:c.1308+32C>T chr13.hg19:g.113729535C>T NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 CCDS45070.2 0.02 1.429673 CCCxCCA COVERED NOVEL MCF2L-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045853.4 0 3.00977 KEEP 0 0 0 10 349 CC 0.992708 0.985685 0 + 5 60 146 1 0 9.381696 59 60 2134 75 ENST00000535094.2 0.078125 0.992926 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113729539 113729539 __UNKNOWN__ Intron SNP G G A rs3764119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113729539G>A ENST00000535094.2 + 11 1467 MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron NM_001112732.2 NP_001106203.2 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CTCCCCCCCAGCTGCGGAACC 0.662 NA G||| 438 0.0874601 0.0061 0.0735 5008 , , NA 13263 0.2431 NA 0.0775 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 G , 77,4229 0,77,2076 6 8 7 , -1.4 0 13 dbSNP_107 7 681,7771 20,641,3565 no intron,intron MCF2L NM_001112732.2,NM_024979.4 , 20,718,5641 AA,AG,GG 8.0573,1.7882,5.9414 , , 113729539 758,12000 2153 4226 6379 SO:0001627 intron_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000535094.2:c.1308+36G>A chr13.hg19:g.113729539G>A NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 CCDS45070.2 0.02 1.797762 CCAxCTG COVERED NOVEL MCF2L-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045853.4 0 3.009683 KEEP 0 0 0 10 346 GG 0.992708 0.972383 0 + 4 60 130 0 0 8.654742 52 60 1858 68 ENST00000535094.2 0.071429 0.979526 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113739226 113739226 __UNKNOWN__ Silent SNP T T C rs2281723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113739226T>C ENST00000535094.2 + 19 2241 c.2082T>C c.(2080-2082)taT>taC p.Y694Y MCF2L_ENST00000397030.1_Silent_p.Y727Y|MCF2L_ENST00000375597.4_Silent_p.Y692Y|MCF2L_ENST00000434480.2_Silent_p.Y700Y|MCF2L_ENST00000375601.3_Silent_p.Y698Y|MCF2L_ENST00000375608.3_Silent_p.Y724Y|MCF2L_ENST00000442652.2_Silent_p.Y724Y|MCF2L_ENST00000423482.2_Silent_p.Y692Y|MCF2L_ENST00000375604.2_Silent_p.Y751Y|MCF2L_ENST00000421756.1_Silent_p.Y698Y NM_001112732.2 NP_001106203.2 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 724 DH. {ECO:0000255|PROSITE- ProRule:PRU00062}. NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) TCCAGATCTATGAGAAGTACT 0.582 NA c||| 562 0.11222 0.0764 0.0865 5008 , , NA 17663 0.2649 NA 0.0656 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 C , 306,4100 797.5+/-415.4 10,286,1907 125 119 121 2082,2076 -3.1 1 13 dbSNP_100 121 607,7993 791.9+/-407.5 14,579,3707 yes coding-synonymous,coding-synonymous MCF2L NM_001112732.2,NM_024979.4 , 24,865,5614 CC,CT,TT 7.0581,6.9451,7.0198 , 694/1126,692/1124 113739226 913,12093 2203 4300 6503 SO:0001819 synonymous_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000535094.2:c.2082T>C chr13.hg19:g.113739226T>C NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 CCDS45070.2 0.02 6.70804 CTAxGAG COVERED 257 0.11767399267399267 43 0.08739837398373984 32 0.08839779005524862 135 0.23601398601398602 47 0.06200527704485488 C 9.298 1.052343 0.19827 0.069451 0.070581 ENSG00000126217 ENST00000397017 . . . 4.64 -3.09 0.05331 . . . . . . . . . . . 0.09310 P 1.0 . . . . . . . . . . . . . . 15.2654 0.73657 0.0:0.1181:0.0:0.8819 rs2281723;rs17692545;rs2281723 . . . R 355 . . X + 1 0 MCF2L 112787227 0.995000 0.38212 0.975000 0.42487 0.824000 0.46624 0.321000 0.19558 -0.859000 0.04105 -0.711000 0.03637 TGA NOVEL MCF2L-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045853.4 1 9.662097 KEEP 0 1 34 44 1348 TT 1 1 0 + 17 60 632 0 0 46.056952 183 60 6825 309 ENST00000535094.2 0.085 1 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113744441 113744441 __UNKNOWN__ Intron SNP C C T rs4907588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113744441C>T ENST00000535094.2 + 26 3112 MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375597.4_3'UTR|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron NM_001112732.2 NP_001106203.2 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GCGCTTTACCCTGCAGGGTTT 0.517 NA c||| 493 0.0984425 0.0068 0.0965 5008 , , NA 14669 0.2391 NA 0.1103 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000535094.2:c.2953+399C>T chr13.hg19:g.113744441C>T NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 CCDS45070.2 0.02 26.099143 ACCxTGC COVERED 250 0.11446886446886446 5 0.01016260162601626 45 0.12430939226519337 120 0.2097902097902098 80 0.10554089709762533 C 10.65 1.410270 0.25465 . . ENSG00000126217 ENST00000453297;ENST00000439475 . . . 4.83 3.97 0.46021 . . . . . T 0.00039 0.0001 . . . 0.09310 P 1.0 . . . . . . T 0.10800 -1.0614 3 . . . . 8.1542 0.31158 0.0:0.8232:0.0:0.1768 rs4907588 . . . L 159;110 . . P + 2 0 MCF2L 112792442 0.994000 0.37717 1.000000 0.80357 0.996000 0.88848 2.906000 0.48735 2.217000 0.71921 0.655000 0.94253 CCT NOVEL MCF2L-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045853.4 4 19.563141 KEEP 0 0 0 65 2311 CC 1 1 0 + 43 60 1571 0 0 110.498819 556 60 20977 805 ENST00000535094.2 0.071786 1 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113745402 113745402 __UNKNOWN__ Intron SNP C C T rs41306043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113745402C>T ENST00000535094.2 + 26 3112 MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Intron NM_001112732.2 NP_001106203.2 O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) ACTCTCTCTCCGGTTGTATTT 0.582 NA c||| 657 0.13119 0.0537 0.1095 5008 , , NA 16339 0.2431 NA 0.17 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000535094.2:c.2953+1360C>T chr13.hg19:g.113745402C>T NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 CCDS45070.2 0.02 7.162855 CTCxGGT COVERED NOVEL MCF2L-005 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045853.4 2 11.135804 KEEP 0 0 0 37 1266 CC 1 1 0 + 11 60 402 0 0 27.729042 160 60 5775 239 ENST00000535094.2 0.064327 1 MCF2L 23263 __UNKNOWN__ __UNKNOWN__ 13 113752540 113752540 __UNKNOWN__ 3'UTR SNP C C A rs563056539 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113752540C>A ENST00000397030.1 + 0 5067 MCF2L_ENST00000375601.3_3'UTR|MCF2L_ENST00000375604.2_3'UTR O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) 1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) ACCCTCCCAGCGGCTTGTAGC 0.607 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 14957 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002360 CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2 13q34 2013-01-10 ENSG00000126217 ENSG00000126217 23263 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 14576 protein-coding gene gene with protein product 609499 NA 9205841 Standard NM_001112732 NA Approved KIAA0362, DBS, OST, ARHGEF14 uc010tjr.2 O15068 OTTHUMG00000017377 ENST00000397030.1:c.*1739C>A chr13.hg19:g.113752540C>A NA A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679 hg19 0.02 8.63019 CAGxGGC COVERED NOVEL MCF2L-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000045850.3 1 10.834641 KEEP 0 0 0 36 1243 CC 0.999999 0.999999 0 + 8 60 289 0 0 17.478126 234 60 8091 337 ENST00000397030.1 0.033058 1 PROZ 8858 __UNKNOWN__ __UNKNOWN__ 13 113818708 113818708 __UNKNOWN__ Intron SNP A A T rs538972830|rs3024731 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113818708A>T ENST00000342783.4 + 6 446 PROZ_ENST00000375547.2_Intron NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein NA NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508) endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252) NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) ACACACCAGAACTCTTGTGTG 0.428 NA A||| 2820 0.563099 0.4841 0.6326 5008 , , NA 21549 0.4782 NA 0.7674 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M55670 CCDS9531.1, CCDS58300.1 13q34 2008-07-18 ENSG00000126231 ENSG00000126231 8858 9460 protein-coding gene gene with protein product 176895 NA 2244898, 2403355 Standard NM_003891 NM_001256134 NA Approved PZ uc010agr.2 P22891 OTTHUMG00000017376 ENST00000342783.4:c.440-119A>T chr13.hg19:g.113818708A>T NA A6NMB4|Q15213|Q5JVF5|Q5JVF6 hg19 CCDS58300.1 0.02 2.217349 AGAxCTC COVERED NOVEL PROZ-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000045846.1 0 2.406789 KEEP 0 0 0 8 241 AA 0.99257 0.98632 0 + 8 60 295 0 0 22.846424 56 60 2006 77 ENST00000342783.4 0.125 0.993703 GRTP1 79774 __UNKNOWN__ __UNKNOWN__ 13 113980369 113980369 __UNKNOWN__ Missense_Mutation SNP G G T rs543173577 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:113980369G>T ENST00000375431.4 - 6 674 c.600C>A c.(598-600)gaC>gaA p.D200E GRTP1_ENST00000375430.4_Missense_Mutation_p.D200E|GRTP1_ENST00000326039.3_Missense_Mutation_p.D122E NM_024719.2 NP_078995.2 Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 200 Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}. NA Rab GTPase activator activity (GO:0005097) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GGACCTCCTGGTCGGTCTTCA 0.657 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 11626 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 44 55 51 NA NA 13 NA 113980369 2203 4300 6503 SO:0001583 missense AK026127 CCDS9534.2, CCDS66591.1, CCDS73606.1 13q34 2011-11-30 ENSG00000139835 ENSG00000139835 79774 20310 protein-coding gene gene with protein product NA 11564724 Standard NM_024719 NM_001286732 NA Approved FLJ22474, TBC1D6 uc001vtn.3 Q5TC63 OTTHUMG00000017381 ENST00000375431.4:c.600C>A chr13.hg19:g.113980369G>T ENSP00000364580:p.Asp200Glu NA B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695 hg19 CCDS9534.2 0.02 12.989219 CTGxTCG COVERED . . . . . . . . . . G 17.93 3.508049 0.64410 . . ENSG00000139835 ENST00000375431;ENST00000326039;ENST00000375430 T;T;T 0.24538 1.85;1.85;1.85 4.82 2.02 0.26589 Rab-GAP/TBC domain (5); 0.053822 0.64402 D 0.000001 T 0.42245 0.1194 M 0.70842 2.15 0.58432 D 0.999999 D;D;D 0.69078 0.994;0.993;0.997 D;P;D 0.69824 0.966;0.822;0.936 T 0.15607 -1.0431 10 0.46703 T 0.11 . 6.5195 0.22266 0.2589:0.0:0.6185:0.1226 . 200;122;200 B9A6K2;Q5TC63-2;Q5TC63 .;.;GRTP1_HUMAN E 200;122;200 ENSP00000364580:D200E;ENSP00000321850:D122E;ENSP00000364579:D200E ENSP00000321850:D122E D - 3 2 GRTP1 113028370 1.000000 0.71417 0.998000 0.56505 0.931000 0.56810 0.958000 0.29227 0.405000 0.25532 0.462000 0.41574 GAC NOVEL GRTP1-002 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000045882.5 6 27.991121 KEEP 0 0 0 93 3292 GG 1 1 0 - 20 60 715 0 0 48.156995 315 60 11337 500 ENST00000375431.4 0.059701 1 DCUN1D2 55208 __UNKNOWN__ __UNKNOWN__ 13 114110235 114110235 __UNKNOWN__ 3'UTR SNP C C A rs1386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114110235C>A ENST00000332592.3 - 0 2524 Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 NA NA breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) TTTGGAAAAGCCTTTGTCCAA 0.328 NA C||| 987 0.197085 0.3275 0.1513 5008 , , NA 17863 0.1865 NA 0.1481 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001566 CCDS32013.1 13q34 2013-06-10 2013-06-10 2005-10-04 ENSG00000150401 ENSG00000150401 55208 20328 protein-coding gene gene with protein product chromosome 13 open reading frame 17, DCN1, defective in cullin neddylation 1, domain containing 2 (S. cerevisiae) C13orf17 NA 15988528 Standard NM_018185 XM_005268320 NA Approved FLJ10704, FLJ20092 uc001vtr.1 Q6PH85 OTTHUMG00000017390 ENST00000332592.3:c.*2109G>T chr13.hg19:g.114110235C>A NA Q5JSA5|Q5JSA6|Q5JSA7|Q9NVJ1|Q9NXR6 hg19 0.02 10.912219 AAGxCTT COVERED NOVEL DCUN1D2-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000045934.2 1 20.42113 KEEP 0 0 0 68 2420 CC 1 1 0 - 11 60 395 0 0 25.090298 243 60 9043 404 ENST00000332592.3 0.043307 1 ATP4B 496 __UNKNOWN__ __UNKNOWN__ 13 114309226 114309226 __UNKNOWN__ Silent SNP G G A rs11164142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114309226G>A ENST00000335288.4 - 2 185 c.144C>T c.(142-144)taC>taT p.Y48Y NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 48 NA cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890) hydrogen:potassium-exchanging ATPase activity (GO:0008900) breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) TCATCACCACGTAGAAGGCCA 0.542 NA G||| 2370 0.473243 0.32 0.4438 5008 , , NA 17342 0.6032 NA 0.4592 False NA ,,, NA NA NA 2504 0.5818 NA NA NA NA 0 G 1313,3093 442.5+/-346.7 194,925,1084 185 131 149 144 0.5 1 13 dbSNP_120 149 3763,4837 533.8+/-382.5 849,2065,1386 no coding-synonymous ATP4B NM_000705.3 1043,2990,2470 AA,AG,GG 43.7558,29.8003,39.0281 48/292 114309226 5076,7930 2203 4300 6503 SO:0001819 synonymous_variant CCDS9539.1 13q34 2011-08-01 ENSG00000186009 ENSG00000186009 496 3.6.3.10 ATPases / P-type 820 protein-coding gene gene with protein product 137217 NA 1330887, 15057823 Standard NM_000705 NM_000705 NA Approved ATP6B uc001vtz.3 P51164 OTTHUMG00000140234 ENST00000335288.4:c.144C>T chr13.hg19:g.114309226G>A NA B1B0N8 hg19 CCDS9539.1 0.02 8.871637 CACxTAG COVERED NOVEL ATP4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276703.2 4 14.748201 KEEP 0 0 0 49 1738 GG 1 1 0 - 9 60 334 0 0 21.085854 228 60 8279 387 ENST00000335288.4 0.037975 1 GRK1 6011 __UNKNOWN__ __UNKNOWN__ 13 114323997 114323997 __UNKNOWN__ Intron SNP T T C rs9796234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114323997T>C ENST00000335678.6 + 2 931 NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 NA NA negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) photoreceptor disc membrane (GO:0097381) ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254) ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) CGTCTCACTTTTCAGGGTGCT 0.542 NA T||| 2410 0.48123 0.1989 0.4813 5008 , , NA 19997 0.6349 NA 0.5189 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 T 1024,3202 131,762,1220 226 231 230 1.9 0 13 dbSNP_119 230 4206,4266 1080,2046,1110 no intron GRK1 NM_002929.2 1211,2808,2330 CC,CT,TT 49.6459,24.231,41.1876 114323997 5230,7468 2113 4236 6349 SO:0001627 intron_variant 13q34 2013-09-02 2004-03-23 2004-03-24 ENSG00000185974 ENSG00000185974 6011 2.7.11.14 10013 protein-coding gene gene with protein product 180381 rhodopsin kinase RHOK NA 8812493, 15057823 Standard NM_002929 NM_002929 NA Approved GPRK1, RK uc010tkf.2 Q15835 OTTHUMG00000185528 ENST00000335678.6:c.700-5T>C chr13.hg19:g.114323997T>C NA Q53X14 hg19 0.02 9.211782 CTTxTCA COVERED NOVEL GRK1-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000470655.1 1 13.217343 KEEP 0 0 0 44 1321 TT 1 1 0 + 10 60 381 0 0 25.189341 211 60 7587 323 ENST00000335678.6 0.045249 1 TMEM255B 348013 __UNKNOWN__ __UNKNOWN__ 13 114507840 114507840 __UNKNOWN__ Intron SNP G G A rs7332019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114507840G>A ENST00000375353.3 + 8 696 TMEM255B_ENST00000467169.1_Intron NM_182614.2 NP_872420.1 Q8WV15 T255B_HUMAN transmembrane protein 255B NA NA integral component of membrane (GO:0016021) NA CCGACCACCCGTCTCCTCTCC 0.657 NA G||| 2869 0.572883 0.2451 0.5706 5008 , , NA 9822 0.8591 NA 0.5278 False NA ,,, NA NA NA 2504 0.7689 NA NA NA NA 0 G 1280,3124 419.8+/-338.8 201,878,1123 45 48 47 -7.2 0 13 dbSNP_116 47 4333,4267 568.4+/-389.0 1107,2119,1074 no intron FAM70B NM_182614.2 1308,2997,2197 AA,AG,GG 49.6163,29.0645,43.1636 114507840 5613,7391 2202 4300 6502 SO:0001627 intron_variant BC018995 CCDS45071.1 13q34 2012-11-30 2012-11-30 2012-11-30 ENSG00000184497 ENSG00000184497 348013 28297 protein-coding gene gene with protein product family with sequence similarity 70, member B FAM70B NA 12477932 Standard NM_182614 NM_182614 NA Approved MGC20579 uc001vuh.3 Q8WV15 OTTHUMG00000017398 ENST00000375353.3:c.670-18G>A chr13.hg19:g.114507840G>A NA hg19 CCDS45071.1 0.02 6.635691 CCCxTCT COVERED NOVEL TMEM255B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045953.4 1 18.792413 KEEP 0 1 30 73 2430 GG 1 1 0 + 13 60 467 0 0 32.233761 180 60 6013 328 ENST00000375353.3 0.067358 1 GAS6 2621 __UNKNOWN__ __UNKNOWN__ 13 114530114 114530114 __UNKNOWN__ Silent SNP G G A rs1803628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114530114G>A ENST00000327773.6 - 12 1478 c.1332C>T c.(1330-1332)tgC>tgT p.C444C GAS6_ENST00000355761.4_Silent_p.C390C|GAS6_ENST00000450766.1_Silent_p.C171C|GAS6_ENST00000357389.3_Silent_p.C487C|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Silent_p.C145C NM_000820.2 NP_000811.1 Q14393 GAS6_HUMAN growth arrest-specific 6 487 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079) cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093) binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245) central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) AGCTCCTCATGCAGCCATCCA 0.587 NA G||| 1150 0.229633 0.2927 0.2219 5008 , , NA 15439 0.2113 NA 0.0775 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 G ,, 1210,3196 418.3+/-338.2 173,864,1166 135 112 119 1332,513,435 -1.2 0.2 13 dbSNP_89 119 766,7834 183.3+/-231.6 36,694,3570 no coding-synonymous,coding-synonymous,coding-synonymous GAS6 NM_000820.2,NM_001143945.1,NM_001143946.1 ,, 209,1558,4736 AA,AG,GG 8.907,27.4626,15.193 ,, 444/679,171/406,145/380 114530114 1976,11030 2203 4300 6503 SO:0001819 synonymous_variant CCDS45072.1 13q34 2008-07-18 ENSG00000183087 ENSG00000183087 2621 4168 protein-coding gene gene with protein product AXL stimulatory factor 600441 AXLLG NA 8336730 Standard NM_000820 NM_000820 NA Approved AXSF, FLJ34709, DKFZp666G247 uc001vud.3 Q14393 OTTHUMG00000017395 ENST00000327773.6:c.1332C>T chr13.hg19:g.114530114G>A NA B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3 hg19 CCDS45072.1 0.02 6.326194 CATxCAG COVERED NOVEL GAS6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000045946.2 2 17.737635 KEEP 0 0 0 59 2079 GG 1 1 0 - 13 60 462 0 0 31.581405 185 60 7008 303 ENST00000327773.6 0.065657 1 GAS6 2621 __UNKNOWN__ __UNKNOWN__ 13 114531565 114531565 __UNKNOWN__ Silent SNP C C G rs8191975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114531565C>G ENST00000327773.6 - 11 1409 c.1263G>C c.(1261-1263)ctG>ctC p.L421L GAS6_ENST00000355761.4_Silent_p.L367L|GAS6_ENST00000450766.1_Silent_p.L148L|GAS6_ENST00000357389.3_Silent_p.L464L|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Silent_p.L122L NM_000820.2 NP_000811.1 Q14393 GAS6_HUMAN growth arrest-specific 6 464 Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}. NA activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079) cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093) binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245) central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CTCCCACGGTCAGGTTCAGAT 0.577 NA a||| 898 0.179313 0.1702 0.1412 5008 , , NA 17287 0.2014 NA 0.0676 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 ,, 769,3637 80,609,1514 147 127 134 1263,444,366 -8.2 0.4 13 dbSNP_117 134 620,7980 19,582,3699 no coding-synonymous,coding-synonymous,coding-synonymous GAS6 NM_000820.2,NM_001143945.1,NM_001143946.1 ,, 99,1191,5213 GG,GC,CC 7.2093,17.4535,10.6797 ,, 421/679,148/406,122/380 114531565 1389,11617 2203 4300 6503 SO:0001819 synonymous_variant CCDS45072.1 13q34 2008-07-18 ENSG00000183087 ENSG00000183087 2621 4168 protein-coding gene gene with protein product AXL stimulatory factor 600441 AXLLG NA 8336730 Standard NM_000820 NM_000820 NA Approved AXSF, FLJ34709, DKFZp666G247 uc001vud.3 Q14393 OTTHUMG00000017395 ENST00000327773.6:c.1263G>C chr13.hg19:g.114531565C>G NA B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3 hg19 CCDS45072.1 0.02 10.824568 GGTxAGG COVERED NOVEL GAS6-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000045946.2 4 31.297079 KEEP 0 0 0 104 3556 CC 1 1 0 - 13 60 478 0 0 30.827479 284 60 10575 499 ENST00000327773.6 0.043771 1 RASA3 22821 __UNKNOWN__ __UNKNOWN__ 13 114806698 114806698 __UNKNOWN__ Intron SNP C C T rs145627958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr13:114806698C>T ENST00000334062.7 - 4 399 RASA3_ENST00000389544.4_Intron|RASA3_ENST00000542651.1_Intron NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 NA NA calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235) calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GGGCACCggccgggtgcgggg 0.612 NA N||| 29 0.00579073 0.0008 0.0014 5008 , , NA 16680 0.0149 NA 0.006 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32016.1 13q34 2013-01-10 ENSG00000185989 ENSG00000185989 22821 Pleckstrin homology (PH) domain containing 20331 protein-coding gene gene with protein product 605182 NA 7637787, 9382842 Standard NM_007368 NM_007368 NA Approved GAP1IP4BP, GAPIII uc001vui.3 Q14644 OTTHUMG00000017399 ENST00000334062.7:c.278-128G>A chr13.hg19:g.114806698C>T NA A6NL15|F8W6X8|Q8IUY2 hg19 CCDS32016.1 0.02 2.010386 GGCxGGG COVERED NOVEL RASA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000045957.2 0 14.144545 KEEP 0 0 0 47 1621 CC 1 0.999962 0 - 5 60 194 0 0 13.166643 95 60 3245 188 ENST00000334062.7 0.05 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19110003 19110003 __UNKNOWN__ IGR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19110003T>A NA NA None (None upstream) : RP11-754I20.1 (299 downstream) NA NA NA TTCTCCCAGGTGAGGCTGGAG 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19110003T>A NA hg19 0.02 7.221782 AGGxGAG COVERED NOVEL 0 1 11.131461 KEEP 0 0 0 37 1105 TT 1 1 0 10 47 381 0 0 25.933035 177 60 6287 296 0.053476 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19110082 19110082 __UNKNOWN__ IGR SNP A A G rs370986604 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19110082A>G NA NA None (None upstream) : RP11-754I20.1 (220 downstream) NA NA NA GAAGAAGGGCAAGGGCGAGCG 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19110082A>G NA hg19 0.02 6.941792 GGCxAGG COVERED NOVEL 0 1 3.945584 KEEP 1 1 34 25 754 AA 0.999957 0.999957 0 9 40 313 0 0 20.633063 148 60 5282 228 0.057325 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19425301 19425301 __UNKNOWN__ IGR SNP G G C rs71225193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19425301G>C NA NA RP11-536C10.16 (11403 upstream) : MED15P1 (74544 downstream) NA NA NA TTCTGATGTCGTTTctccccc 0.498 NA .||| 903 0.180312 0.2322 0.1297 5008 , , NA 25519 0.246 NA 0.1312 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19425301G>C NA hg19 0.02 -0.271943 GTCxTTT COVERED NOVEL 0 2 3.310364 KEEP 5 0 0 11 358 GG 0.99254 0.711964 0 6 60 235 0 0 19.748617 25 60 826 51 0.193548 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19444045 19444045 __UNKNOWN__ IGR SNP T T G rs28710282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19444045T>G NA NA RP11-536C10.16 (30147 upstream) : MED15P1 (55800 downstream) NA NA NA AGTTGTTGCTTAAGAAAGAAA 0.403 NA .||| 1355 0.270567 0.3109 0.3012 5008 , , NA 37530 0.379 NA 0.1412 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19444045T>G NA hg19 0.02 16.926047 GCTxAAG COVERED NOVEL 0 1 9.605133 KEEP 15 0 0 32 917 TT 0.999997 0.999997 0 18 60 669 0 0 44.077672 363 60 12957 492 0.047244 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19444266 19444266 __UNKNOWN__ IGR SNP C C T rs28439149 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19444266C>T NA NA RP11-536C10.16 (30368 upstream) : MED15P1 (55579 downstream) NA NA NA AAGCTCTTTCCGCCTTGCTGC 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19444266C>T NA hg19 0.02 30.567615 TTCxGCC COVERED NOVEL 0 8 22.873372 KEEP 39 0 0 76 2599 CC 1 1 0 21 47 760 0 0 45.025082 716 48 24664 1003 0.028494 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19445404 19445404 __UNKNOWN__ IGR SNP G G A rs28459580 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19445404G>A NA NA RP11-536C10.16 (31506 upstream) : MED15P1 (54441 downstream) NA NA NA GGTCTTCTCCGAAGAGAAATA 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19445404G>A NA hg19 0.02 14.244257 TCCxAAG COVERED NOVEL 0 3 3.981975 KEEP 53 2 62 35 1182 GG 0.999892 0.999892 0 60 47 2204 0 0 182.332136 256 50 9217 486 0.189873 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19498804 19498804 __UNKNOWN__ IGR SNP G G A rs370659203 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19498804G>A NA NA RP11-536C10.16 (84906 upstream) : MED15P1 (1041 downstream) NA NA NA TGAAGCACCAGGAGGATCCCT 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19498804G>A NA hg19 0.02 2.24703 CCAxGAG UNCOVERED NOVEL 0 1 3.611746 KEEP 74 0 0 12 422 GG 0 0 0 4 25 148 0 0 9.976962 69 27 2455 165 0.054795 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 19499452 19499452 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19499452G>A NA NA RP11-536C10.16 (85554 upstream) : MED15P1 (393 downstream) NA NA NA GCACATGGTGGCACACTTGGG 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.19499452G>A NA hg19 0.02 1.971682 GTGxCAC UNCOVERED NOVEL 0 6 4.514519 KEEP 60 0 0 15 531 GG 0 0 0 9 27 333 0 0 24.755028 84 27 3204 222 0.096774 0.999895 RP11-146E13.4 0 __UNKNOWN__ __UNKNOWN__ 14 19818712 19818712 __UNKNOWN__ lincRNA SNP C C T rs28436768 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:19818712C>T ENST00000548109.1 + 0 72 NA NA NA tgtgagccaccgtgcctggcc 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548109.1: chr14.hg19:g.19818712C>T NA hg19 0.02 -0.122817 CACxGTG COVERED NOVEL RP11-146E13.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000409408.1 3 4.213552 KEEP 0 0 0 14 480 CC 0.995343 0.195397 0 + 3 47 123 0 0 10.572503 11 60 370 37 ENST00000548109.1 0.214286 0.196312 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20097817 20097817 __UNKNOWN__ RNA SNP T T C rs61977578|rs557367307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20097817T>C ENST00000548261.1 + 0 245 NA NA NA TTTGTTGGCATACCTTATTAC 0.433 NA t||| 1852 0.369808 0.3744 0.4481 5008 , , NA 39232 0.4018 NA 0.4006 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20097817T>C NA hg19 0.02 2.334794 GCAxACC UNCOVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 0 3.307539 KEEP 74 0 0 11 307 TT 0 0 0 + 6 24 226 0 0 16.859781 57 40 1982 155 ENST00000548261.1 0.095238 0.992094 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20120256 20120256 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20120256C>T ENST00000548261.1 + 0 245 NA NA NA TATTTCTCTTCGGAGAAGACC 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20120256C>T NA hg19 0.02 30.006828 CTTxGGA COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 2 6.796442 KEEP 116 8 240 107 3618 CC 1 1 0 + 56 46 2038 0 0 147.097379 609 48 22437 1134 ENST00000548261.1 0.084211 1 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20134581 20134581 __UNKNOWN__ RNA SNP A A G rs57786288 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20134581A>G ENST00000548261.1 + 0 391 NA NA NA ATGTAGGTGCAAGAATTGGGT 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20134581A>G NA hg19 0.02 1.830335 TGCxAGA COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 0 3.310271 KEEP 1 0 0 11 352 AA 0.993072 0.991548 0 + 4 60 139 0 0 9.029834 71 60 2602 112 ENST00000548261.1 0.053333 0.998465 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20137048 20137048 __UNKNOWN__ RNA SNP G G A rs201853285 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20137048G>A ENST00000548261.1 + 0 391 NA NA NA GGAAAAGTTAGCTTTATACGT 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20137048G>A NA hg19 0.02 1.907134 TTAxCTT COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 0 6.019568 KEEP 26 0 0 20 705 GG 0.993634 0.993439 0 + 11 40 390 0 0 29.852569 77 50 2795 144 ENST00000548261.1 0.125 0.999804 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20137090 20137090 __UNKNOWN__ RNA SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20137090A>C ENST00000548261.1 + 0 391 NA NA NA AGGAACACAGAAATCTGCACA 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20137090A>C NA hg19 0.02 5.048174 CAGxAAT COVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 1 3.61108 KEEP 4 0 0 12 388 AA 0.993634 0.993631 0 + 7 37 266 0 0 18.571194 105 60 3743 164 ENST00000548261.1 0.0625 0.999998 RP11-597A11.1 0 __UNKNOWN__ __UNKNOWN__ 14 20137283 20137283 __UNKNOWN__ RNA SNP C C T rs67835025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20137283C>T ENST00000548261.1 + 0 391 NA NA NA AGCAGCTGCCCGGAGCCCCGT 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000548261.1: chr14.hg19:g.20137283C>T NA hg19 0.02 2.30511 GCCxGGA UNCOVERED NOVEL RP11-597A11.1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409571.1 1 2.646146 KEEP 13 0 0 9 264 CC 0 0 0 + 10 60 351 0 0 28.547934 45 60 1557 86 ENST00000548261.1 0.181818 0.976865 RP11-597A11.6 0 __UNKNOWN__ __UNKNOWN__ 14 20146319 20146319 __UNKNOWN__ lincRNA SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20146319A>C ENST00000555580.1 - 0 225 NA NA NA CTAAAGAAGCAAGCTACGGCT 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000555580.1: chr14.hg19:g.20146319A>C NA hg19 0.02 15.473118 AGCxAGC COVERED NOVEL RP11-597A11.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000409767.1 4 2.509337 KEEP 27 3 96 42 1310 AA 1 1 0 - 12 49 455 0 0 29.094757 303 60 11094 490 ENST00000555580.1 0.038095 1 RP11-597A11.6 0 __UNKNOWN__ __UNKNOWN__ 14 20146601 20146601 __UNKNOWN__ lincRNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20146601G>A ENST00000555580.1 - 0 225 NA NA NA CGTCAGTTACGCCCAGGACTT 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000555580.1: chr14.hg19:g.20146601G>A NA hg19 0.02 20.650822 TACxCCC COVERED NOVEL RP11-597A11.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000409767.1 5 13.11187 KEEP 7 2 64 66 2285 GG 1 1 0 - 17 49 598 0 0 35.524227 498 60 17235 718 ENST00000555580.1 0.03301 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20147660 20147660 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20147660G>T NA NA RP11-597A11.6 (485 upstream) : RP11-597A11.2 (1918 downstream) NA NA NA GGCGGATTTTGTTCAGACTCC 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20147660G>T NA hg19 0.02 5.588281 TTTxTTC COVERED NOVEL 0 3 5.352578 KEEP 6 1 32 29 1032 GG 0.999997 0.999997 0 8 60 246 0 0 14.463815 172 60 6565 278 0.044444 1 OR4K5 79317 __UNKNOWN__ __UNKNOWN__ 14 20389606 20389606 __UNKNOWN__ Missense_Mutation SNP G G A rs77615110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20389606G>A ENST00000315915.4 + 1 866 c.841G>A c.(841-843)Gtc>Atc p.V281I NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 281 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCACCCCCGTCCTAAACCC 0.388 NA A||| 696 0.138978 0.0537 0.0879 5008 , , NA 25181 0.4722 NA 0.0338 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 A ILE/VAL 265,4141 6,253,1944 148 160 156 841 -1.9 0 14 dbSNP_131 156 140,8460 2,136,4162 yes missense OR4K5 NM_001005483.1 29 8,389,6106 AA,AG,GG 1.6279,6.0145,3.1139 benign 281/324 20389606 405,12601 2203 4300 6503 SO:0001583 missense BK004355 CCDS32024.1 14q11.22 2012-08-09 ENSG00000176281 79317 GPCR / Class A : Olfactory receptors 14745 protein-coding gene gene with protein product NA 14983052 Standard NM_001005483 NM_001005483 NA Approved uc010tkw.2 Q8NGD3 ENST00000315915.4:c.841G>A chr14.hg19:g.20389606G>A ENSP00000319511:p.Val281Ile NA Q6IFA7 hg19 CCDS32024.1 0.02 34.84064 CCCxTCC COVERED 349 0.15979853479853479 28 0.056910569105691054 24 0.06629834254143646 270 0.47202797202797203 27 0.03562005277044855 . 0.031 -1.333333 0.01298 0.060145 0.016279 ENSG00000176281 ENST00000315915 T 0.37411 1.2 4.28 -1.91 0.07641 GPCR, rhodopsin-like superfamily (1); 0.141764 0.31989 N 0.006747 T 0.00012 0.0000 N 0.13168 0.305 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.46148 -0.9212 9 0.27785 T 0.31 . 2.1619 0.03827 0.263:0.3948:0.0845:0.2577 . 281 Q8NGD3 OR4K5_HUMAN I 281 ENSP00000319511:V281I ENSP00000319511:V281I V + 1 0 OR4K5 19459446 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 -1.620000 0.02046 -0.438000 0.07232 -0.254000 0.11334 GTC NOVEL OR4K5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409867.1 5 28.592061 KEEP 0 0 0 95 3313 GG 1 1 0 + 32 60 1164 0 0 72.673855 808 60 28485 1122 ENST00000315915.4 0.038095 1 OR4K1 79544 __UNKNOWN__ __UNKNOWN__ 14 20404238 20404238 __UNKNOWN__ Missense_Mutation SNP G G A rs3916626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20404238G>A ENST00000285600.4 + 1 472 c.413G>A c.(412-414)cGg>cAg p.R138Q NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 138 NA R -> Q (in dbSNP:rs3916626). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATTATGAACCGGAGGCTCTGT 0.458 NA G||| 789 0.157548 0.0696 0.1744 5008 , , NA 26751 0.4831 NA 0.0348 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 G GLN/ARG 327,4079 9,309,1885 136 129 131 413 -2.8 0 14 dbSNP_108 131 137,8463 2,133,4165 yes missense OR4K1 NM_001004063.2 43 11,442,6050 AA,AG,GG 1.593,7.4217,3.5676 benign 138/312 20404238 464,12542 2203 4300 6503 SO:0001583 missense CCDS32025.1 14q11.2 2013-09-23 ENSG00000155249 ENSG00000155249 79544 GPCR / Class A : Olfactory receptors 14726 protein-coding gene gene with protein product NA Standard NM_001004063 NA Approved uc001vwj.2 Q8NGD4 OTTHUMG00000170633 ENST00000285600.4:c.413G>A chr14.hg19:g.20404238G>A ENSP00000285600:p.Arg138Gln NA B9EKV9|Q8NGD6|Q96R73 hg19 CCDS32025.1 0.02 17.269976 ACCxGAG COVERED 394 0.1804029304029304 37 0.07520325203252033 50 0.13812154696132597 279 0.48776223776223776 28 0.036939313984168866 . 7.887 0.731457 0.15507 0.074217 0.01593 ENSG00000155249 ENST00000285600 T 0.01347 4.99 4.94 -2.84 0.05751 GPCR, rhodopsin-like superfamily (1); 0.722050 0.12346 N 0.476982 T 0.00012 0.0000 L 0.28115 0.83 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.12941 -1.0528 9 0.14656 T 0.56 . 11.8724 0.52527 0.4473:0.0:0.5527:0.0 rs3916626;rs3916626 138 Q8NGD4 OR4K1_HUMAN Q 138 ENSP00000285600:R138Q ENSP00000285600:R138Q R + 2 0 OR4K1 19474078 0.000000 0.05858 0.000000 0.03702 0.920000 0.55202 -2.054000 0.01399 -0.481000 0.06792 -1.063000 0.02288 CGG NOVEL OR4K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409881.1 11 13.242237 KEEP 0 0 0 44 1516 GG 1 1 0 + 20 60 746 0 0 48.881722 417 60 14265 538 ENST00000285600.4 0.045767 1 OR4K1 79544 __UNKNOWN__ __UNKNOWN__ 14 20404736 20404736 __UNKNOWN__ Missense_Mutation SNP G G A rs2792146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20404736G>A ENST00000285600.4 + 1 970 c.911G>A c.(910-912)cGt>cAt p.R304H NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 304 NA R -> H (in dbSNP:rs2792146). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.2}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) CTGAGAAACCGTCATGTGAAC 0.433 NA G||| 2151 0.429513 0.2617 0.4669 5008 , , NA 22603 0.6101 NA 0.4294 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 G HIS/ARG 1275,3131 125,1025,1053 71 79 76 911 -4.6 0 14 dbSNP_100 76 3532,5068 424,2684,1192 yes missense OR4K1 NM_001004063.2 29 549,3709,2245 AA,AG,GG 41.0698,28.9378,36.9599 benign 304/312 20404736 4807,8199 2203 4300 6503 SO:0001583 missense CCDS32025.1 14q11.2 2013-09-23 ENSG00000155249 ENSG00000155249 79544 GPCR / Class A : Olfactory receptors 14726 protein-coding gene gene with protein product NA Standard NM_001004063 NA Approved uc001vwj.2 Q8NGD4 OTTHUMG00000170633 ENST00000285600.4:c.911G>A chr14.hg19:g.20404736G>A ENSP00000285600:p.Arg304His NA B9EKV9|Q8NGD6|Q96R73 hg19 CCDS32025.1 0.02 39.406456 ACCxTCA COVERED 967 0.44276556776556775 140 0.2845528455284553 168 0.46408839779005523 348 0.6083916083916084 311 0.4102902374670185 . 1.788 -0.480168 0.04383 0.289378 0.410698 ENSG00000155249 ENST00000285600 T 0.39592 1.07 5.17 -4.59 0.03400 . 0.609210 0.15670 N 0.250404 T 0.00012 0.0000 L 0.38649 1.16 0.80722 P 0.0 B 0.10296 0.003 B 0.04013 0.001 T 0.43925 -0.9361 9 0.34782 T 0.22 . 8.6915 0.34269 0.6043:0.0:0.2872:0.1086 rs2792146;rs3916625 304 Q8NGD4 OR4K1_HUMAN H 304 ENSP00000285600:R304H ENSP00000285600:R304H R + 2 0 OR4K1 19474576 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.082000 0.03400 -0.902000 0.03886 -1.686000 0.00732 CGT NOVEL OR4K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409881.1 5 16.025286 KEEP 0 5 153 107 3746 GG 1 1 0 + 46 60 1724 0 0 116.063841 830 60 29775 1163 ENST00000285600.4 0.052511 1 OR4K1 79544 __UNKNOWN__ __UNKNOWN__ 14 20404767 20404767 __UNKNOWN__ 3'UTR SNP A A G rs2792145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20404767A>G ENST00000285600.4 + 0 1001 NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACTAGGGATCATTACGAAGGA 0.428 NA G||| 1969 0.393171 0.1286 0.4597 5008 , , NA 22546 0.6121 NA 0.4284 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 G 809,3597 51,707,1445 53 58 56 -2.7 0 14 dbSNP_100 56 3506,5094 423,2660,1217 no utr-3 OR4K1 NM_001004063.2 474,3367,2662 GG,GA,AA 40.7674,18.3613,33.177 20404767 4315,8691 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32025.1 14q11.2 2013-09-23 ENSG00000155249 ENSG00000155249 79544 GPCR / Class A : Olfactory receptors 14726 protein-coding gene gene with protein product NA Standard NM_001004063 NA Approved uc001vwj.2 Q8NGD4 OTTHUMG00000170633 ENST00000285600.4:c.*6A>G chr14.hg19:g.20404767A>G NA B9EKV9|Q8NGD6|Q96R73 hg19 CCDS32025.1 0.02 37.517554 ATCxTTA COVERED NOVEL OR4K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409881.1 3 19.865056 KEEP 0 3 109 104 3257 AA 1 1 0 + 46 60 1660 0 0 109.714499 828 60 30675 1153 ENST00000285600.4 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20404874 20404874 __UNKNOWN__ IGR SNP C C T rs2792144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20404874C>T NA NA OR4K1 (32 upstream) : OR4K15 (38728 downstream) NA NA NA ACAGAATTGGCTTTTTGTTTT 0.333 NA C||| 1969 0.393171 0.1271 0.4625 5008 , , NA 22669 0.6111 NA 0.4284 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20404874C>T NA hg19 0.02 19.158083 TGGxTTT COVERED NOVEL 0 2 11.738134 KEEP 0 0 0 39 1398 CC 1 1 0 22 60 800 0 0 51.445917 472 60 17878 590 0.044534 1 OR4Q2 390432 __UNKNOWN__ __UNKNOWN__ 14 20470737 20470737 __UNKNOWN__ RNA SNP G G A rs12587697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20470737G>A ENST00000541415.1 + 0 416 P0C623 OR4Q2_HUMAN olfactory receptor, family 4, subfamily Q, member 2 (gene/pseudogene) NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) NA GTCATGAGTCGGGGGTTATGC 0.537 NA G||| 1573 0.314097 0.0938 0.3256 5008 , , NA 21081 0.627 NA 0.2366 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 14q11.2 2012-08-09 2008-06-11 2008-06-11 ENSG00000196383 ENSG00000196383 390432 GPCR / Class A : Olfactory receptors 15359 protein-coding gene gene with protein product olfactory receptor, family 4, subfamily Q, member 2 pseudogene OR4Q2P NA Standard NG_004349 NA Approved P0C623 OTTHUMG00000168643 ENST00000541415.1: chr14.hg19:g.20470737G>A NA hg19 0.02 23.438815 GTCxGGG COVERED NOVEL OR4Q2-001 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000400473.1 5 10.065431 KEEP 0 1 30 44 1500 GG 1 1 0 + 18 60 650 0 0 39.02431 544 60 18864 701 ENST00000541415.1 0.032028 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20502921 20502921 __UNKNOWN__ IGR SNP G G A rs2775236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20502921G>A NA NA OR4K13 (2 upstream) : OR4L1 (25282 downstream) NA NA NA TTTCCATATCGTCAACTTTAT 0.348 NA G||| 1581 0.315695 0.1838 0.3357 5008 , , NA 20901 0.506 NA 0.2843 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 G 861,3519 82,697,1411 37 39 38 -2.3 0 14 dbSNP_100 38 2246,6328 307,1632,2348 no near-gene-5 389,2329,3759 AA,AG,GG 26.1955,19.6575,23.9849 20502921 3107,9847 2190 4287 6477 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20502921G>A NA hg19 0.02 24.238675 ATCxTCA COVERED NOVEL 0 3 12.640629 KEEP 0 0 0 42 1445 GG 1 1 0 17 60 596 0 0 34.699082 545 60 19301 750 0.030249 1 OR4L1 122742 __UNKNOWN__ __UNKNOWN__ 14 20528207 20528207 __UNKNOWN__ Missense_Mutation SNP G G A rs1958715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20528207G>A ENST00000315683.1 + 1 4 c.4G>A c.(4-6)Gat>Aat p.D2N NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 2 NA D -> N (in dbSNP:rs1958715). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGAGTAAATGGATCTTAAAAA 0.299 NA g||| 2688 0.536741 0.4902 0.5562 5008 , , NA 17781 0.5734 NA 0.3857 False NA ,,, NA NA NA 2504 0.7035 NA NA NA NA 0 ASN/ASP 2146,2260 521,1104,578 103 112 109 4 1.4 0.8 14 dbSNP_92 109 3457,5141 730,1997,1572 yes missense OR4L1 NM_001004717.1 23 1251,3101,2150 AA,AG,GG 40.207,48.7063,43.0867 possibly-damaging 2/313 20528207 5603,7401 2203 4299 6502 SO:0001583 missense CCDS32029.1 14q11.2 2013-09-23 ENSG00000176246 ENSG00000176246 122742 GPCR / Class A : Olfactory receptors 15356 protein-coding gene gene with protein product OR4L2P NA Standard NM_001004717 NA Approved uc001vwn.1 Q8NH43 OTTHUMG00000169492 ENST00000315683.1:c.4G>A chr14.hg19:g.20528207G>A ENSP00000319217:p.Asp2Asn NA Q6IEZ5 hg19 CCDS32029.1 0.02 3.984708 ATGxATC COVERED 1083 0.4958791208791209 255 0.5182926829268293 192 0.5303867403314917 320 0.5594405594405595 316 0.41688654353562005 . 8.093 0.775042 0.16051 0.487063 0.40207 ENSG00000176246 ENST00000315683 T 0.03004 4.08 3.28 1.4 0.22301 . 0.569745 0.15717 N 0.248106 T 0.00012 0.0000 L 0.33245 0.995 0.39736 P 0.02832199999999996 B 0.09022 0.002 B 0.10450 0.005 T 0.20739 -1.0266 9 0.25751 T 0.34 . 6.4376 0.21831 0.1113:0.1873:0.7014:0.0 rs1958715;rs17126014;rs52801958;rs61492536;rs1958715 2 Q8NH43 OR4L1_HUMAN N 2 ENSP00000319217:D2N ENSP00000319217:D2N D + 1 0 OR4L1 19598047 0.000000 0.05858 0.786000 0.31890 0.504000 0.33889 -0.124000 0.10595 0.395000 0.25257 0.639000 0.83563 GAT NOVEL OR4L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404381.1 3 2.70888 KEEP 0 0 0 9 320 GG 0.99254 0.99254 0 + 5 60 185 0 0 11.588786 131 60 4570 152 ENST00000315683.1 0.036765 1 OR4L1 122742 __UNKNOWN__ __UNKNOWN__ 14 20528505 20528505 __UNKNOWN__ Missense_Mutation SNP T T A rs2775253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20528505T>A ENST00000315683.1 + 1 302 c.302T>A c.(301-303)aTg>aAg p.M101K NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 101 NA M -> K (in dbSNP:rs2775253). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTGACCCAGATGTTCTTCATG 0.473 NA t||| 2135 0.426318 0.3623 0.3934 5008 , , NA 19257 0.5357 NA 0.3221 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 LYS/MET 1574,2832 284,1006,913 151 136 141 302 4 1 14 dbSNP_100 141 2755,5845 481,1793,2026 yes missense OR4L1 NM_001004717.1 95 765,2799,2939 AA,AT,TT 32.0349,35.724,33.2846 probably-damaging 101/313 20528505 4329,8677 2203 4300 6503 SO:0001583 missense CCDS32029.1 14q11.2 2013-09-23 ENSG00000176246 ENSG00000176246 122742 GPCR / Class A : Olfactory receptors 15356 protein-coding gene gene with protein product OR4L2P NA Standard NM_001004717 NA Approved uc001vwn.1 Q8NH43 OTTHUMG00000169492 ENST00000315683.1:c.302T>A chr14.hg19:g.20528505T>A ENSP00000319217:p.Met101Lys NA Q6IEZ5 hg19 CCDS32029.1 0.02 19.108446 AGAxGTT COVERED 889 0.40705128205128205 184 0.37398373983739835 140 0.3867403314917127 303 0.5297202797202797 262 0.34564643799472294 . 19.10 3.761031 0.69763 0.35724 0.320349 ENSG00000176246 ENST00000315683 T 0.06687 3.27 3.97 3.97 0.46021 GPCR, rhodopsin-like superfamily (1); 0.164442 0.43110 D 0.000618 T 0.00012 0.0000 M 0.83312 2.635 0.29923 P 0.8226100000000001 P 0.49862 0.929 P 0.49012 0.598 T 0.44498 -0.9324 9 0.87932 D 0 . 11.1491 0.48447 0.0:0.0:0.0:1.0 rs2775253;rs2994401;rs2775253 101 Q8NH43 OR4L1_HUMAN K 101 ENSP00000319217:M101K ENSP00000319217:M101K M + 2 0 OR4L1 19598345 0.001000 0.12720 1.000000 0.80357 0.960000 0.62799 0.887000 0.28254 1.793000 0.52555 0.524000 0.50904 ATG NOVEL OR4L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404381.1 3 7.656786 KEEP 0 1 33 37 1153 TT 1 1 0 + 18 70 651 0 0 40.424984 459 60 16798 571 ENST00000315683.1 0.037736 1 OR4L1 122742 __UNKNOWN__ __UNKNOWN__ 14 20528528 20528528 __UNKNOWN__ Missense_Mutation SNP G G A rs2775254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20528528G>A ENST00000315683.1 + 1 325 c.325G>A c.(325-327)Ggt>Agt p.G109S NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 109 NA G -> S (in dbSNP:rs2775254). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CTTCTTTGGGGGTGCTGAGAT 0.473 NA G||| 2134 0.426118 0.3623 0.3934 5008 , , NA 18993 0.5347 NA 0.3221 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 G SER/GLY 1578,2828 284,1010,909 142 126 132 325 4 1 14 dbSNP_100 132 2761,5839 481,1799,2020 yes missense OR4L1 NM_001004717.1 56 765,2809,2929 AA,AG,GG 32.1047,35.8148,33.3615 probably-damaging 109/313 20528528 4339,8667 2203 4300 6503 SO:0001583 missense CCDS32029.1 14q11.2 2013-09-23 ENSG00000176246 ENSG00000176246 122742 GPCR / Class A : Olfactory receptors 15356 protein-coding gene gene with protein product OR4L2P NA Standard NM_001004717 NA Approved uc001vwn.1 Q8NH43 OTTHUMG00000169492 ENST00000315683.1:c.325G>A chr14.hg19:g.20528528G>A ENSP00000319217:p.Gly109Ser NA Q6IEZ5 hg19 CCDS32029.1 0.02 17.355332 GGGxGTG COVERED 889 0.40705128205128205 184 0.37398373983739835 140 0.3867403314917127 303 0.5297202797202797 262 0.34564643799472294 . 15.15 2.747603 0.49257 0.358148 0.321047 ENSG00000176246 ENST00000315683 T 0.09445 2.98 3.99 3.99 0.46301 GPCR, rhodopsin-like superfamily (1); 0.000000 0.56097 D 0.000024 T 0.00012 0.0000 L 0.53780 1.695 0.58432 P 5.000000000032756E-6 D 0.56521 0.976 P 0.49361 0.608 T 0.47861 -0.9084 9 0.72032 D 0.01 . 13.9601 0.64172 0.0:0.0:1.0:0.0 rs2775254;rs2994400;rs52809408;rs57715101;rs2775254 109 Q8NH43 OR4L1_HUMAN S 109 ENSP00000319217:G109S ENSP00000319217:G109S G + 1 0 OR4L1 19598368 0.000000 0.05858 0.998000 0.56505 0.477000 0.33069 -0.577000 0.05847 2.213000 0.71641 0.650000 0.86243 GGT NOVEL OR4L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000404381.1 4 6.857112 KEEP 0 1 32 34 1183 GG 0.999999 0.999999 0 + 16 70 579 0 0 36.114231 400 60 14397 492 ENST00000315683.1 0.038462 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20529177 20529177 __UNKNOWN__ IGR SNP C C T rs1959627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20529177C>T NA NA OR4L1 (35 upstream) : RNA5SP380 (29111 downstream) NA NA NA TTAAATGCTACGATAAGATAG 0.254 NA T||| 2203 0.439896 0.4032 0.3963 5008 , , NA 4337 0.5357 NA 0.3221 False NA ,,, NA NA NA 2504 0.5429 NA NA NA NA 0 T 1649,2645 327,995,825 20 23 22 -3.5 0 14 dbSNP_92 22 2712,5812 477,1758,2027 no near-gene-3 804,2753,2852 TT,TC,CC 31.816,38.4024,34.0225 20529177 4361,8457 2147 4262 6409 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20529177C>T NA hg19 0.02 10.693223 CTAxGAT COVERED NOVEL 0 1 6.920973 KEEP 0 0 0 23 772 CC 0.999892 0.999892 0 8 60 297 0 0 17.763158 271 60 9139 362 0.028674 1 OR11H6 122748 __UNKNOWN__ __UNKNOWN__ 14 20692291 20692291 __UNKNOWN__ Silent SNP C C T rs34693535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20692291C>T ENST00000315519.2 + 1 501 c.423C>T c.(421-423)taC>taT p.Y141Y NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 141 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ATGATCGGTACCTGGCCATCT 0.433 NA c||| 1958 0.390974 0.4735 0.3516 5008 , , NA 22347 0.2371 NA 0.4781 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 C 2257,2149 595.3+/-388.4 610,1037,556 159 155 156 423 3.2 1 14 dbSNP_126 156 4156,4444 565.9+/-388.6 996,2164,1140 yes coding-synonymous OR11H6 NM_001004480.1 1606,3201,1696 TT,TC,CC 48.3256,48.7744,49.308 141/331 20692291 6413,6593 2203 4300 6503 SO:0001819 synonymous_variant CCDS32033.1 14q11.2 2013-09-24 ENSG00000176219 ENSG00000176219 122748 GPCR / Class A : Olfactory receptors 15349 protein-coding gene gene with protein product NA Standard NM_001004480 NA Approved uc010tlc.2 Q8NGC7 OTTHUMG00000170850 ENST00000315519.2:c.423C>T chr14.hg19:g.20692291C>T NA Q6IF08 hg19 CCDS32033.1 0.02 18.306944 GTAxCTG COVERED NOVEL OR11H6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410676.1 3 7.3585 KEEP 0 1 30 35 1243 CC 0.999999 0.999999 0 + 32 60 1167 0 0 82.052948 412 60 15248 568 ENST00000315519.2 0.072072 1 OR11H6 122748 __UNKNOWN__ __UNKNOWN__ 14 20692453 20692453 __UNKNOWN__ Missense_Mutation SNP G G T rs17211285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20692453G>T ENST00000315519.2 + 1 663 c.585G>T c.(583-585)ttG>ttT p.L195F NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 195 NA L -> F (in dbSNP:rs17211285). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TTGACCACTTGGTGTGTGACC 0.502 NA N||| 1950 0.389377 0.4735 0.3516 5008 , , NA 21345 0.2361 NA 0.4781 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 T PHE/LEU 2256,2150 581.8+/-385.5 610,1036,557 99 93 95 585 -5.7 0 14 dbSNP_123 95 4155,4445 587.9+/-392.3 997,2161,1142 yes missense OR11H6 NM_001004480.1 22 1607,3197,1699 TT,TG,GG 48.314,48.7971,49.2926 benign 195/331 20692453 6411,6595 2203 4300 6503 SO:0001583 missense CCDS32033.1 14q11.2 2013-09-24 ENSG00000176219 ENSG00000176219 122748 GPCR / Class A : Olfactory receptors 15349 protein-coding gene gene with protein product NA Standard NM_001004480 NA Approved uc010tlc.2 Q8NGC7 OTTHUMG00000170850 ENST00000315519.2:c.585G>T chr14.hg19:g.20692453G>T ENSP00000319071:p.Leu195Phe NA Q6IF08 hg19 CCDS32033.1 0.02 10.167403 CTTxGTG COVERED 869 0.39789377289377287 237 0.4817073170731707 135 0.3729281767955801 122 0.21328671328671328 375 0.4947229551451187 T 0.008 -1.904680 0.00512 0.512029 0.48314 ENSG00000176219 ENST00000315519 T 0.00009 9.48 4.62 -5.69 0.02428 GPCR, rhodopsin-like superfamily (1); 0.425679 0.19588 N 0.110693 T 0.00012 0.0000 N 0.00022 -2.735 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.48536 -0.9027 9 0.02654 T 1 . 6.6385 0.22897 0.1202:0.5514:0.123:0.2054 rs17211285;rs52820270;rs58685861;rs17211285 195 Q8NGC7 O11H6_HUMAN F 195 ENSP00000319071:L195F ENSP00000319071:L195F L + 3 2 OR11H6 19762293 0.000000 0.05858 0.005000 0.12908 0.612000 0.37316 -2.544000 0.00933 -1.967000 0.01008 -1.079000 0.02226 TTG NOVEL OR11H6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410676.1 0 6.320114 KEEP 0 0 0 21 732 GG 0.999869 0.999869 0 + 11 60 392 0 0 24.280146 271 60 10114 347 ENST00000315519.2 0.039007 1 OR11H6 122748 __UNKNOWN__ __UNKNOWN__ 14 20692574 20692574 __UNKNOWN__ Missense_Mutation SNP T T C rs17277221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20692574T>C ENST00000315519.2 + 1 784 c.706T>C c.(706-708)Tac>Cac p.Y236H NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 236 NA Y -> H (in dbSNP:rs17277221). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CTTGGGATCTTACACTCTGGT 0.488 NA t||| 1958 0.390974 0.4735 0.3516 5008 , , NA 21936 0.2371 NA 0.4781 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 T HIS/TYR 2257,2149 595.4+/-388.4 611,1035,557 119 105 110 706 4.8 0.9 14 dbSNP_123 110 4157,4443 566.4+/-388.7 997,2163,1140 yes missense OR11H6 NM_001004480.1 83 1608,3198,1697 CC,CT,TT 48.3372,48.7744,49.3157 probably-damaging 236/331 20692574 6414,6592 2203 4300 6503 SO:0001583 missense CCDS32033.1 14q11.2 2013-09-24 ENSG00000176219 ENSG00000176219 122748 GPCR / Class A : Olfactory receptors 15349 protein-coding gene gene with protein product NA Standard NM_001004480 NA Approved uc010tlc.2 Q8NGC7 OTTHUMG00000170850 ENST00000315519.2:c.706T>C chr14.hg19:g.20692574T>C ENSP00000319071:p.Tyr236His NA Q6IF08 hg19 CCDS32033.1 0.02 14.526284 TCTxACA COVERED 870 0.3983516483516483 237 0.4817073170731707 135 0.3729281767955801 123 0.21503496503496503 375 0.4947229551451187 T 14.82 2.649305 0.47362 0.512256 0.483372 ENSG00000176219 ENST00000315519 T 0.00515 6.87 4.78 4.78 0.61160 GPCR, rhodopsin-like superfamily (1); 0.000000 0.45361 D 0.000378 T 0.00012 0.0000 H 0.98005 4.125 0.28486 P 0.9147168 D 0.89917 1.0 D 0.97110 1.0 T 0.19976 -1.0289 9 0.87932 D 0 . 12.2972 0.54854 0.0:0.0:0.0:1.0 rs17277221;rs52833578;rs56750236;rs17277221 236 Q8NGC7 O11H6_HUMAN H 236 ENSP00000319071:Y236H ENSP00000319071:Y236H Y + 1 0 OR11H6 19762414 1.000000 0.71417 0.906000 0.35671 0.290000 0.27261 4.432000 0.59922 2.000000 0.58554 0.386000 0.25728 TAC NOVEL OR11H6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410676.1 2 7.156181 KEEP 0 1 35 36 1119 TT 1 1 0 + 22 60 843 0 0 60.036063 297 60 10606 426 ENST00000315519.2 0.068966 1 OR11H6 122748 __UNKNOWN__ __UNKNOWN__ 14 20692643 20692643 __UNKNOWN__ Missense_Mutation SNP T T C rs17277228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20692643T>C ENST00000315519.2 + 1 853 c.775T>C c.(775-777)Tgt>Cgt p.C259R NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 259 NA C -> R (in dbSNP:rs17277228). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) TTTCTCCACATGTGGGTCCCA 0.493 NA t||| 1958 0.390974 0.4735 0.3516 5008 , , NA 21989 0.2371 NA 0.4781 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 T ARG/CYS 2257,2149 595.8+/-388.5 611,1035,557 110 93 99 775 4.8 1 14 dbSNP_123 99 4157,4443 566.4+/-388.7 997,2163,1140 yes missense OR11H6 NM_001004480.1 180 1608,3198,1697 CC,CT,TT 48.3372,48.7744,49.3157 probably-damaging 259/331 20692643 6414,6592 2203 4300 6503 SO:0001583 missense CCDS32033.1 14q11.2 2013-09-24 ENSG00000176219 ENSG00000176219 122748 GPCR / Class A : Olfactory receptors 15349 protein-coding gene gene with protein product NA Standard NM_001004480 NA Approved uc010tlc.2 Q8NGC7 OTTHUMG00000170850 ENST00000315519.2:c.775T>C chr14.hg19:g.20692643T>C ENSP00000319071:p.Cys259Arg NA Q6IF08 hg19 CCDS32033.1 0.02 12.592702 ACAxGTG COVERED 870 0.3983516483516483 237 0.4817073170731707 135 0.3729281767955801 123 0.21503496503496503 375 0.4947229551451187 T 16.90 3.250844 0.59212 0.512256 0.483372 ENSG00000176219 ENST00000315519 T 0.00372 7.73 4.78 4.78 0.61160 GPCR, rhodopsin-like superfamily (1); 0.000000 0.53938 D 0.000045 T 0.00012 0.0000 H 0.96970 3.915 0.09310 P 0.999999854784 D 0.89917 1.0 D 0.97110 1.0 T 0.12734 -1.0536 9 0.87932 D 0 . 12.2972 0.54854 0.0:0.0:0.0:1.0 rs17277228;rs52820021;rs60871786;rs17277228 259 Q8NGC7 O11H6_HUMAN R 259 ENSP00000319071:C259R ENSP00000319071:C259R C + 1 0 OR11H6 19762483 1.000000 0.71417 1.000000 0.80357 0.901000 0.52897 7.410000 0.80065 2.000000 0.58554 0.386000 0.25728 TGT NOVEL OR11H6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410676.1 1 3.743256 KEEP 0 1 33 24 730 TT 0.999931 0.999931 0 + 16 60 560 0 0 35.507054 330 60 12077 407 ENST00000315519.2 0.046243 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 20698504 20698504 __UNKNOWN__ IGR SNP G G A rs1953560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20698504G>A NA NA OR11H7 (4 upstream) : OR11H4 (12393 downstream) NA NA NA CAGAGATCATGAATAGGGTTT 0.388 NA G||| 1897 0.378794 0.3442 0.353 5008 , , NA 24140 0.3234 NA 0.4334 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.20698504G>A NA hg19 0.02 13.818772 CATxAAT COVERED NOVEL 0 1 4.815423 KEEP 0 0 0 16 546 GG 0.997832 0.997832 0 22 60 795 0 0 55.209809 298 60 11204 354 0.06875 1 TTC5 91875 __UNKNOWN__ __UNKNOWN__ 14 20754514 20754514 __UNKNOWN__ 3'UTR SNP G G C rs112667822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20754514G>C ENST00000258821.3 - 0 4651 TTC5_ENST00000556592.1_Intron NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 NA NA DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) catagaaaaagaaacaggaat 0.269 NA g||| 497 0.0992412 0.0696 0.1066 5008 , , NA 13768 0.1587 NA 0.0258 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008647 CCDS9546.1 14q11.2 2013-01-11 ENSG00000136319 ENSG00000136319 91875 Tetratricopeptide (TTC) repeat domain containing 19274 protein-coding gene gene with protein product NA 11511361 Standard NM_138376 NM_138376 NA Approved Strap uc001vwt.3 Q8N0Z6 OTTHUMG00000029506 ENST00000258821.3:c.*3272C>G chr14.hg19:g.20754514G>C NA A8MQ18|Q96HF9 hg19 CCDS9546.1 0.02 4.687067 AAAxAAA COVERED NOVEL TTC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073529.4 2 6.621248 KEEP 0 0 0 22 766 GG 0.999879 0.999878 0 - 8 60 294 0 0 20.343215 116 60 4347 154 ENST00000258821.3 0.064516 0.999999 TTC5 91875 __UNKNOWN__ __UNKNOWN__ 14 20757383 20757383 __UNKNOWN__ 3'UTR SNP A A G rs74596138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20757383A>G ENST00000258821.3 - 0 1782 NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 NA NA DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) ATTGCTAAAAATAAAAGCCAT 0.338 NA A||| 571 0.114018 0.1157 0.111 5008 , , NA 17516 0.1667 NA 0.0278 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008647 CCDS9546.1 14q11.2 2013-01-11 ENSG00000136319 ENSG00000136319 91875 Tetratricopeptide (TTC) repeat domain containing 19274 protein-coding gene gene with protein product NA 11511361 Standard NM_138376 NM_138376 NA Approved Strap uc001vwt.3 Q8N0Z6 OTTHUMG00000029506 ENST00000258821.3:c.*403T>C chr14.hg19:g.20757383A>G NA A8MQ18|Q96HF9 hg19 CCDS9546.1 0.02 7.484851 AAAxTAA COVERED NOVEL TTC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073529.4 2 13.239558 KEEP 0 0 0 44 1389 AA 1 1 0 - 11 60 428 0 0 30.745884 146 60 5225 235 ENST00000258821.3 0.070064 1 TTC5 91875 __UNKNOWN__ __UNKNOWN__ 14 20767618 20767618 __UNKNOWN__ Intron SNP G G A rs2318864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20767618G>A ENST00000258821.3 - 4 453 NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 NA NA DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) CTGCAAATAGGAAGGGCACAT 0.413 NA A||| 3653 0.729433 0.7874 0.8559 5008 , , NA 21595 0.7907 NA 0.7406 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 A 3462,944 354.6+/-312.7 1354,754,95 104 93 97 4.7 0 14 dbSNP_100 97 6312,2288 381.5+/-340.0 2317,1678,305 no intron TTC5 NM_138376.2 3671,2432,400 AA,AG,GG 26.6047,21.4253,24.8501 20767618 9774,3232 2203 4300 6503 SO:0001627 intron_variant BC008647 CCDS9546.1 14q11.2 2013-01-11 ENSG00000136319 ENSG00000136319 91875 Tetratricopeptide (TTC) repeat domain containing 19274 protein-coding gene gene with protein product NA 11511361 Standard NM_138376 NM_138376 NA Approved Strap uc001vwt.3 Q8N0Z6 OTTHUMG00000029506 ENST00000258821.3:c.397-11C>T chr14.hg19:g.20767618G>A NA A8MQ18|Q96HF9 hg19 CCDS9546.1 0.02 8.566541 TAGxAAG COVERED NOVEL TTC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073529.4 5 12.475279 KEEP 0 1 33 53 1863 GG 1 1 0 - 13 60 479 0 0 31.944141 236 60 8954 401 ENST00000258821.3 0.052209 1 CCNB1IP1 57820 __UNKNOWN__ __UNKNOWN__ 14 20784431 20784431 __UNKNOWN__ Silent SNP G G A rs17242578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20784431G>A ENST00000398169.3 - 5 868 c.252C>T c.(250-252)atC>atT p.I84I CCNB1IP1_ENST00000398160.2_Silent_p.I84I|CCNB1IP1_ENST00000437553.2_Silent_p.I84I|CCNB1IP1_ENST00000353689.4_Silent_p.I84I|CCNB1IP1_ENST00000358932.4_Silent_p.I84I|CCNB1IP1_ENST00000398163.2_Silent_p.I84I Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase 84 NA blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286) synaptonemal complex (GO:0000795) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) TGTCCAACACGATCTCTGGTC 0.468 NA T HMGA2 leiomyoma G||| 592 0.118211 0.1505 0.0922 5008 , , NA 16104 0.1677 NA 0.0249 False NA ,,, NA NA NA 2504 0.138 NA NA NA Dom yes 14 14q11.2 57820 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase M 0 G ,,, 546,3860 247.2+/-255.5 31,484,1688 93 90 91 252,252,252,252 1.2 1 14 dbSNP_123 91 228,8372 93.3+/-155.3 4,220,4076 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CCNB1IP1 NM_021178.3,NM_182849.1,NM_182851.1,NM_182852.2 ,,, 35,704,5764 AA,AG,GG 2.6512,12.3922,5.9511 ,,, 84/278,84/278,84/278,84/278 20784431 774,12232 2203 4300 6503 SO:0001819 synonymous_variant AF216381 CCDS9547.1 14q11.2 2014-02-04 2011-01-31 2004-01-14 ENSG00000100814 ENSG00000100814 57820 19437 protein-coding gene gene with protein product human enhancer of invasion 10 608249 chromosome 14 open reading frame 18, cyclin B1 interacting protein 1 C14orf18 NA 12612082, 21779533 Standard NM_021178, NM_182849, NM_182851, NM_182852 NM_021178 NA Approved HEI10 uc001vwy.4 Q9NPC3 OTTHUMG00000029509 ENST00000398169.3:c.252C>T chr14.hg19:g.20784431G>A NA hg19 CCDS9547.1 0.02 11.574975 CACxATC COVERED NOVEL CCNB1IP1-001 KNOWN non_canonical_other|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073538.3 1 19.260104 KEEP 0 0 0 64 2125 GG 1 1 0 - 16 60 598 0 0 41.392163 242 60 8482 395 ENST00000398169.3 0.062016 1 CCNB1IP1 57820 __UNKNOWN__ __UNKNOWN__ 14 20784718 20784718 __UNKNOWN__ 5'UTR SNP G G T rs1132644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20784718G>T ENST00000398169.3 - 0 581 CCNB1IP1_ENST00000398160.2_5'UTR|CCNB1IP1_ENST00000437553.2_5'UTR|CCNB1IP1_ENST00000353689.4_5'UTR|CCNB1IP1_ENST00000358932.4_5'UTR|CCNB1IP1_ENST00000398163.2_5'UTR Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1, E3 ubiquitin protein ligase NA NA blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286) synaptonemal complex (GO:0000795) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) HMGA2/CCNB1IP1(2) breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) CTGAAGAGAGGCCTAAGAAGG 0.348 NA T HMGA2 leiomyoma T||| 2983 0.595647 0.7519 0.4769 5008 , , NA 20308 0.5337 NA 0.5 False NA ,,, NA NA NA 2504 0.6309 NA NA NA Dom yes 14 14q11.2 57820 cyclin B1 interacting protein 1, E3 ubiquitin protein ligase M 0 T ,,, 3204,1202 397.4+/-330.4 1153,898,152 31 30 31 ,,, -9.4 0 14 dbSNP_86 31 4225,4375 560.3+/-387.6 1034,2157,1109 yes utr-5,utr-5,utr-5,utr-5 CCNB1IP1 NM_021178.3,NM_182849.1,NM_182851.1,NM_182852.2 ,,, 2187,3055,1261 TT,TG,GG 49.1279,27.281,42.8802 ,,, ,,, 20784718 7429,5577 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF216381 CCDS9547.1 14q11.2 2014-02-04 2011-01-31 2004-01-14 ENSG00000100814 ENSG00000100814 57820 19437 protein-coding gene gene with protein product human enhancer of invasion 10 608249 chromosome 14 open reading frame 18, cyclin B1 interacting protein 1 C14orf18 NA 12612082, 21779533 Standard NM_021178, NM_182849, NM_182851, NM_182852 NM_021178 NA Approved HEI10 uc001vwy.4 Q9NPC3 OTTHUMG00000029509 ENST00000398169.3:c.-36C>A chr14.hg19:g.20784718G>T NA hg19 CCDS9547.1 0.02 18.124454 GAGxCCT COVERED 1202 0.5503663003663004 371 0.7540650406504065 166 0.4585635359116022 283 0.49475524475524474 382 0.503957783641161 T 10.52 1.372215 0.24857 0.72719 0.491279 ENSG00000100814 ENST00000556563 . . . 5.81 -9.41 0.00613 . . . . . T 0.00012 0.0000 . . . 0.46478 P 9.369999999999656E-4 . . . . . . T 0.33137 -0.9880 3 . . . . 1.5544 0.02581 0.4614:0.1218:0.1897:0.2272 rs1132644;rs2275184;rs17211341;rs59516085;rs1132644 . . . T 20 . . P - 1 0 CCNB1IP1 19854558 0.000000 0.05858 0.000000 0.03702 0.062000 0.15995 -1.190000 0.03058 -2.011000 0.00952 -0.520000 0.04383 CCT NOVEL CCNB1IP1-001 KNOWN non_canonical_other|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073538.3 3 23.611244 KEEP 0 1 27 88 3141 GG 1 1 0 - 14 60 480 0 0 28.044873 438 60 16328 712 ENST00000398169.3 0.030973 1 PARP2 10038 __UNKNOWN__ __UNKNOWN__ 14 20822219 20822219 __UNKNOWN__ Intron SNP G G T rs1713412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20822219G>T ENST00000429687.3 + 8 660 PARP2_ENST00000250416.5_Intron|PARP2_ENST00000527915.1_Intron|PARP2_ENST00000555140.1_Intron Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 NA NA base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950) central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) AGATTGTCTTGTGTTTTGTTT 0.338 NA Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA T||| 1372 0.273962 0.6619 0.1542 5008 , , NA 19581 0.1944 NA 0.0437 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 T , 2070,1568 592,886,341 62 61 61 , -7.7 0 14 dbSNP_89 61 354,7810 5,344,3733 no intron,intron PARP2 NM_001042618.1,NM_005484.3 , 597,1230,4074 TT,TG,GG 4.3361,43.1006,20.5389 , , 20822219 2424,9378 1819 4082 5901 SO:0001627 intron_variant AF085734 CCDS41910.1, CCDS45077.1 14q11.2-q12 2010-02-16 2008-07-28 2004-08-26 ENSG00000129484 ENSG00000129484 10038 Poly (ADP-ribose) polymerases 272 protein-coding gene gene with protein product 607725 ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2, poly (ADP-ribose) polymerase family, member 2 ADPRTL2 NA 10329013, 18353725 Standard NM_005484 NA Approved uc001vxc.3 Q9UGN5 OTTHUMG00000166106 ENST00000429687.3:c.601-25G>T chr14.hg19:g.20822219G>T NA Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8 hg19 CCDS45077.1 0.02 12.263217 CTTxTGT COVERED NOVEL PARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387845.2 3 10.233507 KEEP 0 0 0 34 1208 GG 0.999998 0.999998 0 + 16 60 547 0 0 35.333173 288 60 10915 362 ENST00000429687.3 0.052632 1 PARP2 10038 __UNKNOWN__ __UNKNOWN__ 14 20824859 20824859 __UNKNOWN__ Intron SNP T T C rs878156 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20824859T>C ENST00000429687.3 + 13 1389 PARP2_ENST00000250416.5_Intron|PARP2_ENST00000527915.1_Intron Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 NA NA base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950) central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) GTGAGTGAAATTGAACTCTGG 0.488 NA Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA T||| 1142 0.228035 0.4387 0.1744 5008 , , NA 20334 0.1925 NA 0.0915 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 T , 1421,2355 265,891,732 116 111 112 , -0.2 0.9 14 dbSNP_86 112 684,7558 22,640,3459 no intron,intron PARP2 NM_001042618.1,NM_005484.3 , 287,1531,4191 CC,CT,TT 8.299,37.6324,17.5154 , , 20824859 2105,9913 1888 4121 6009 SO:0001627 intron_variant AF085734 CCDS41910.1, CCDS45077.1 14q11.2-q12 2010-02-16 2008-07-28 2004-08-26 ENSG00000129484 ENSG00000129484 10038 Poly (ADP-ribose) polymerases 272 protein-coding gene gene with protein product 607725 ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2, poly (ADP-ribose) polymerase family, member 2 ADPRTL2 NA 10329013, 18353725 Standard NM_005484 NA Approved uc001vxc.3 Q9UGN5 OTTHUMG00000166106 ENST00000429687.3:c.1329+11T>C chr14.hg19:g.20824859T>C NA Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8 hg19 CCDS45077.1 0.02 4.594489 AAAxTGA COVERED NOVEL PARP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387845.2 2 6.599848 KEEP 0 0 0 22 686 TT 0.999879 0.999879 0 + 5 60 193 0 0 12.228847 141 60 4996 191 ENST00000429687.3 0.034247 1 TEP1 7011 __UNKNOWN__ __UNKNOWN__ 14 20834548 20834548 __UNKNOWN__ 3'UTR SNP A A G rs1713419|rs386775291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20834548A>G ENST00000262715.5 - 0 9972 NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 NA NA RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697) ATP binding (GO:0005524)|RNA binding (GO:0003723) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GCCATGCCATAGTTCGCTGCA 0.413 NA G||| 2532 0.505591 0.6543 0.428 5008 , , NA 21665 0.4355 NA 0.4414 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 7011 WD repeat domain containing 11726 protein-coding gene gene with protein product TROVE domain family, member 1 601686 NA 9403057 Standard NM_007110 NM_007110 NA Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000262715.5:c.*2048T>C chr14.hg19:g.20834548A>G NA A0AUV9 hg19 CCDS9548.1 0.02 6.52167 CATxGTT COVERED NOVEL TEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073563.2 1 5.716523 KEEP 0 0 0 19 589 AA 0.99986 0.99986 0 - 6 60 216 0 0 13.477085 147 60 5209 193 ENST00000262715.5 0.039216 1 TEP1 7011 __UNKNOWN__ __UNKNOWN__ 14 20834809 20834809 __UNKNOWN__ 3'UTR SNP A A G rs1713418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20834809A>G ENST00000262715.5 - 0 9711 NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 NA NA RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697) ATP binding (GO:0005524)|RNA binding (GO:0003723) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) ATCAGGGTACAGTGAGAGTAA 0.443 NA a||| 2662 0.53155 0.7489 0.4337 5008 , , NA 20701 0.4355 NA 0.4423 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 7011 WD repeat domain containing 11726 protein-coding gene gene with protein product TROVE domain family, member 1 601686 NA 9403057 Standard NM_007110 NM_007110 NA Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000262715.5:c.*1787T>C chr14.hg19:g.20834809A>G NA A0AUV9 hg19 CCDS9548.1 0.02 3.279649 TACxGTG COVERED NOVEL TEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073563.2 1 3.912267 KEEP 0 0 0 13 421 AA 0.994391 0.994391 0 - 6 60 189 0 0 10.876362 142 60 5281 179 ENST00000262715.5 0.040541 1 TEP1 7011 __UNKNOWN__ __UNKNOWN__ 14 20841162 20841162 __UNKNOWN__ Intron SNP C C T rs1760909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20841162C>T ENST00000556935.1 - 46 6667 TEP1_ENST00000262715.5_Intron|TEP1_ENST00000545983.1_Intron Q99973 TEP1_HUMAN telomerase-associated protein 1 NA NA RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697) ATP binding (GO:0005524)|RNA binding (GO:0003723) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AAGGGTACACCGACTCACCTG 0.512 NA C||| 1604 0.320288 0.447 0.3674 5008 , , NA 20089 0.3046 NA 0.2227 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 C 1716,2690 515.9+/-369.0 330,1056,817 77 78 78 0.4 0 14 dbSNP_89 78 1772,6828 321.7+/-315.2 175,1422,2703 no intron TEP1 NM_007110.4 505,2478,3520 TT,TC,CC 20.6047,38.9469,26.8184 20841162 3488,9518 2203 4300 6503 SO:0001627 intron_variant CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 7011 WD repeat domain containing 11726 protein-coding gene gene with protein product TROVE domain family, member 1 601686 NA 9403057 Standard NM_007110 NM_007110 NA Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000556935.1:c.6627+7G>A chr14.hg19:g.20841162C>T NA A0AUV9 hg19 0.02 8.320332 CACxGAC COVERED NOVEL TEP1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410689.1 1 12.624456 KEEP 0 0 0 42 1390 CC 1 1 0 - 10 60 361 0 0 22.791983 232 60 8108 344 ENST00000556935.1 0.041322 1 TEP1 7011 __UNKNOWN__ __UNKNOWN__ 14 20841313 20841313 __UNKNOWN__ Intron SNP G G A rs1713448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20841313G>A ENST00000556935.1 - 46 6530 TEP1_ENST00000262715.5_Intron|TEP1_ENST00000545983.1_Intron Q99973 TEP1_HUMAN telomerase-associated protein 1 NA NA RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697) ATP binding (GO:0005524)|RNA binding (GO:0003723) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TCATCTGGAGGAGAAAGGACG 0.502 NA a||| 1900 0.379393 0.6596 0.3804 5008 , , NA 23511 0.3056 NA 0.2247 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 2464,1942 551.4+/-378.3 685,1094,424 78 78 78 1.5 0 14 dbSNP_89 78 1801,6799 732.5+/-406.8 182,1437,2681 no intron TEP1 NM_007110.4 867,2531,3105 AA,AG,GG 20.9419,44.0763,32.7926 20841313 4265,8741 2203 4300 6503 SO:0001627 intron_variant CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 7011 WD repeat domain containing 11726 protein-coding gene gene with protein product TROVE domain family, member 1 601686 NA 9403057 Standard NM_007110 NM_007110 NA Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000556935.1:c.6491-7C>T chr14.hg19:g.20841313G>A NA A0AUV9 hg19 0.02 14.467383 GAGxAGA COVERED NOVEL TEP1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410689.1 2 16.808348 KEEP 0 0 0 56 1927 GG 1 1 0 - 11 60 401 0 0 23.854255 360 60 13010 479 ENST00000556935.1 0.02965 1 TEP1 7011 __UNKNOWN__ __UNKNOWN__ 14 20846521 20846521 __UNKNOWN__ Intron SNP A A T rs2297615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20846521A>T ENST00000556935.1 - 36 5224 TEP1_ENST00000262715.5_Intron|TEP1_ENST00000545983.1_Intron Q99973 TEP1_HUMAN telomerase-associated protein 1 NA NA RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697) ATP binding (GO:0005524)|RNA binding (GO:0003723) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CCCCAAGAGCAACACTGGACC 0.562 NA T||| 1310 0.261581 0.3336 0.2118 5008 , , NA 20992 0.1905 NA 0.2475 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 T 1450,2956 681.6+/-404.0 238,974,991 67 67 67 -9.1 0 14 dbSNP_100 67 2228,6372 709.9+/-405.7 291,1646,2363 no intron TEP1 NM_007110.4 529,2620,3354 TT,TA,AA 25.907,32.9097,28.2793 20846521 3678,9328 2203 4300 6503 SO:0001627 intron_variant CCDS9548.1 14q11.2 2013-01-10 ENSG00000129566 ENSG00000129566 7011 WD repeat domain containing 11726 protein-coding gene gene with protein product TROVE domain family, member 1 601686 NA 9403057 Standard NM_007110 NM_007110 NA Approved TP1, TLP1, VAULT2, p240, TROVE1 uc001vxe.3 Q99973 OTTHUMG00000029515 ENST00000556935.1:c.5184+17T>A chr14.hg19:g.20846521A>T NA A0AUV9 hg19 0.02 14.71324 AGCxACA COVERED NOVEL TEP1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410689.1 4 18.052254 KEEP 0 0 0 60 1861 AA 1 1 0 - 10 60 366 0 0 21.212998 378 60 13611 545 ENST00000556935.1 0.025773 1 APEX1 328 __UNKNOWN__ __UNKNOWN__ 14 20925154 20925154 __UNKNOWN__ Missense_Mutation SNP T T G rs1130409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20925154T>G ENST00000216714.3 + 5 712 c.444T>G c.(442-444)gaT>gaG p.D148E APEX1_ENST00000555414.1_Missense_Mutation_p.D148E|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.D148E|APEX1_ENST00000557054.1_Intron NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 148 NA D -> E (in dbSNP:rs1130409). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.11}. aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667) 3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844) breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) CTATAGGCGATGAGGAGCATG 0.433 NA Other BER factors G||| 1881 0.375599 0.3215 0.4352 5008 , , NA 22442 0.4058 NA 0.508 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 GRCh37 CM063843 APEX1 M rs1130409 G GLU/ASP,GLU/ASP,GLU/ASP 1611,2795 655.5+/-399.9 305,1001,897 54 53 54 444,444,444 -2.6 0.5 14 dbSNP_86 54 4054,4546 591.9+/-392.9 957,2140,1203 yes missense,missense,missense APEX1 NM_001641.3,NM_080648.2,NM_080649.2 45,45,45 1262,3141,2100 GG,GT,TT 47.1395,36.5638,43.5568 benign,benign,benign 148/319,148/319,148/319 20925154 5665,7341 2203 4300 6503 SO:0001583 missense X59764 CCDS9550.1 14q11.2 2008-02-05 2002-09-11 2002-09-13 ENSG00000100823 ENSG00000100823 328 4.2.99.18 587 protein-coding gene gene with protein product 107748 APEX nuclease (multifunctional DNA repair enzyme) APEX NA Standard NM_001641 NM_001641 NA Approved APE, REF1, HAP1, APX, APEN, REF-1, APE-1 uc021rnr.1 P27695 OTTHUMG00000029544 ENST00000216714.3:c.444T>G chr14.hg19:g.20925154T>G ENSP00000216714:p.Asp148Glu NA Q969L5|Q99775 hg19 CCDS9550.1 0.02 25.524619 CGAxGAG COVERED 967 0.44276556776556775 176 0.35772357723577236 161 0.4447513812154696 234 0.4090909090909091 396 0.5224274406332454 G 0.014 -1.579649 0.00879 0.365638 0.471395 ENSG00000100823 ENST00000555414;ENST00000216714;ENST00000553681;ENST00000398030;ENST00000556054;ENST00000557592;ENST00000557150 T;T;T;T;T;T;T 0.79845 -1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31 5.5 -2.6 0.06190 Endonuclease/exonuclease/phosphatase (2); 0.244558 0.44483 N 0.000455 T 0.00012 0.0000 N 0.05574 -0.02 0.09310 P 1.0 B 0.02656 0.0 B 0.01281 0.0 T 0.20739 -1.0266 9 0.02654 T 1 . 6.4421 0.21854 0.4561:0.0:0.3526:0.1914 rs1130409;rs3136820;rs3189201;rs11539219;rs17844937;rs17857670;rs17857957;rs17858508;rs52808870;rs1130409 148 P27695 APEX1_HUMAN E 148;148;148;148;148;131;131 ENSP00000451979:D148E;ENSP00000216714:D148E;ENSP00000451327:D148E;ENSP00000381111:D148E;ENSP00000451170:D148E;ENSP00000451060:D131E;ENSP00000452418:D131E ENSP00000216714:D148E D + 3 2 APEX1 19994994 0.976000 0.34144 0.537000 0.28052 0.317000 0.28152 0.107000 0.15375 -0.729000 0.04875 -0.121000 0.15023 GAT NOVEL APEX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073641.3 5 33.332449 KEEP 0 1 32 122 3787 TT 1 1 0 + 17 60 615 0 0 35.951281 591 60 21499 785 ENST00000216714.3 0.027961 1 PNP 4860 __UNKNOWN__ __UNKNOWN__ 14 20940626 20940626 __UNKNOWN__ Silent SNP C C T rs1130650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:20940626C>T ENST00000361505.5 + 2 317 c.171C>T c.(169-171)ccC>ccT p.P57P NM_000270.3 NP_000261.2 P01298 PAHO_HUMAN purine nucleoside phosphorylase 0 NA digestion (GO:0007586)|protein secretion (GO:0009306) extracellular region (GO:0005576) hormone activity (GO:0005179)|receptor binding (GO:0005102) p.P57P(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2) 10 CCAACTTTCCCCGAAGTACAG 0.468 NA C||| 1024 0.204473 0.2451 0.2104 5008 , , NA 20251 0.2083 NA 0.1998 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1058,3348 386.3+/-326.1 119,820,1264 63 56 58 171 0.1 0.3 14 dbSNP_86 58 1521,7079 284.4+/-296.6 143,1235,2922 no coding-synonymous PNP NM_000270.3 262,2055,4186 TT,TC,CC 17.686,24.0127,19.8293 57/290 20940626 2579,10427 2203 4300 6503 SO:0001819 synonymous_variant CCDS9552.1 14q11.2 2014-09-17 2009-12-02 2009-12-02 ENSG00000198805 ENSG00000198805 4860 2.4.2.1 7892 protein-coding gene gene with protein product 164050 nucleoside phosphorylase NP NA 6087295 Standard NM_000270.2 NM_000270 NA Approved PUNP uc001vxo.4 P00491 OTTHUMG00000029546 ENST00000361505.5:c.171C>T chr14.hg19:g.20940626C>T NA hg19 CCDS9552.1 0.02 6.915353 TCCxCGA COVERED NOVEL PNP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073646.2 1 7.824532 KEEP 0 0 0 26 899 CC 0.999957 0.999957 0 + 6 60 223 0 1 13.990864 158 60 5722 219 ENST00000361505.5 0.036585 1 RNASE11 122651 __UNKNOWN__ __UNKNOWN__ 14 21051811 21051811 __UNKNOWN__ 3'UTR SNP C C G rs7151066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21051811C>G ENST00000610205.1 - 0 1006 RNASE11_ENST00000553849.1_3'UTR NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) NA NA extracellular region (GO:0005576) endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) ACCCTCCCCCCACACAGAGAG 0.413 NA C||| 2308 0.460863 0.5212 0.4424 5008 , , NA 16547 0.4931 NA 0.3628 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025410 CCDS9553.1 14q11.1 2013-08-05 2004-11-18 2004-11-18 ENSG00000173464 ENSG00000173464 122651 Ribonucleases, RNase A 19269 protein-coding gene gene with protein product chromosome 14 open reading frame 6 C14orf6 NA Standard NM_145250 NM_145250 NA Approved uc001vxs.3 Q8TAA1 OTTHUMG00000170990 ENST00000610205.1:c.*223G>C chr14.hg19:g.21051811C>G NA hg19 CCDS9553.1 0.02 4.223195 CCCxACA COVERED NOVEL RNASE11-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073662.3 0 5.718665 KEEP 0 0 0 19 674 CC 0.99986 0.999858 0 - 7 60 221 0 0 13.924896 111 60 4167 168 ENST00000610205.1 0.059322 0.999999 RNASE11 122651 __UNKNOWN__ __UNKNOWN__ 14 21051852 21051852 __UNKNOWN__ 3'UTR SNP G G C rs386775318|rs111706605|rs7155711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21051852G>C ENST00000610205.1 - 0 965 RNASE11_ENST00000553849.1_3'UTR NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) NA NA extracellular region (GO:0005576) endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CTGCACGCCAGTATCAGTCAT 0.398 NA G||| 2098 0.41893 0.4463 0.415 5008 , , NA 17997 0.4643 NA 0.328 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025410 CCDS9553.1 14q11.1 2013-08-05 2004-11-18 2004-11-18 ENSG00000173464 ENSG00000173464 122651 Ribonucleases, RNase A 19269 protein-coding gene gene with protein product chromosome 14 open reading frame 6 C14orf6 NA Standard NM_145250 NM_145250 NA Approved uc001vxs.3 Q8TAA1 OTTHUMG00000170990 ENST00000610205.1:c.*182C>G chr14.hg19:g.21051852G>C NA hg19 CCDS9553.1 0.02 1.919126 CCAxTAT COVERED NOVEL RNASE11-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073662.3 0 6.922616 KEEP 0 0 0 23 817 GG 0.999892 0.999848 0 - 4 60 140 0 0 8.684626 93 60 3428 143 ENST00000610205.1 0.041237 0.999956 RNASE11 122651 __UNKNOWN__ __UNKNOWN__ 14 21051854 21051854 __UNKNOWN__ 3'UTR SNP A A G rs386775318|rs7159697|rs111706605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21051854A>G ENST00000610205.1 - 0 963 RNASE11_ENST00000553849.1_3'UTR|RNASE11_ENST00000555841.1_Intron|RNASE11_ENST00000398009.2_Intron NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) NA NA extracellular region (GO:0005576) endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GCACGCCAGTATCAGTCATAA 0.388 NA A||| 2096 0.41853 0.4455 0.4135 5008 , , NA 18088 0.4613 NA 0.331 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC025410 CCDS9553.1 14q11.1 2013-08-05 2004-11-18 2004-11-18 ENSG00000173464 ENSG00000173464 122651 Ribonucleases, RNase A 19269 protein-coding gene gene with protein product chromosome 14 open reading frame 6 C14orf6 NA Standard NM_145250 NM_145250 NA Approved uc001vxs.3 Q8TAA1 OTTHUMG00000170990 ENST00000610205.1:c.*180T>C chr14.hg19:g.21051854A>G NA hg19 CCDS9553.1 0.02 1.836855 AGTxTCA COVERED NOVEL RNASE11-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073662.3 0 6.907105 KEEP 0 0 0 23 669 AA 0.999892 0.999832 0 - 4 60 149 0 0 9.608696 91 60 3277 140 ENST00000610205.1 0.042105 0.99994 RNASE11 122651 __UNKNOWN__ __UNKNOWN__ 14 21052259 21052259 __UNKNOWN__ Silent SNP T T C rs1429539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21052259T>C ENST00000610205.1 - 3 558 c.375A>G c.(373-375)acA>acG p.T125T RNASE11_ENST00000553849.1_Silent_p.T125T|RNASE11_ENST00000555841.1_Silent_p.T125T|RNASE11_ENST00000398008.2_Silent_p.T125T|RNASE11_ENST00000432835.2_Silent_p.T125T|RNASE11_ENST00000398009.2_Silent_p.T125T NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 125 NA extracellular region (GO:0005576) endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GCATCACTTCTGTGGAGCTGC 0.493 NA C||| 1842 0.367812 0.5484 0.2723 5008 , , NA 21015 0.1905 NA 0.3539 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 C 2223,2183 585.8+/-386.3 575,1073,555 86 74 78 375 -1.9 0 14 dbSNP_88 78 3189,5411 653.4+/-401.0 604,1981,1715 no coding-synonymous RNASE11 NM_145250.3 1179,3054,2270 CC,CT,TT 37.0814,49.5461,41.6116 125/200 21052259 5412,7594 2203 4300 6503 SO:0001819 synonymous_variant BC025410 CCDS9553.1 14q11.1 2013-08-05 2004-11-18 2004-11-18 ENSG00000173464 ENSG00000173464 122651 Ribonucleases, RNase A 19269 protein-coding gene gene with protein product chromosome 14 open reading frame 6 C14orf6 NA Standard NM_145250 NM_145250 NA Approved uc001vxs.3 Q8TAA1 OTTHUMG00000170990 ENST00000610205.1:c.375A>G chr14.hg19:g.21052259T>C NA hg19 CCDS9553.1 0.02 15.583826 TTCxGTG COVERED NOVEL RNASE11-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073662.3 3 12.635899 KEEP 0 0 0 42 1285 TT 1 1 0 - 21 60 731 0 0 48.453263 336 60 12449 451 ENST00000610205.1 0.058824 1 RNASE12 493901 __UNKNOWN__ __UNKNOWN__ 14 21058425 21058425 __UNKNOWN__ 3'UTR SNP G G T rs3827902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21058425G>T ENST00000556526.1 - 0 557 RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000555283.1_Intron|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA NM_001024822.2 NP_001019993.1 Q5GAN4 RNS12_HUMAN ribonuclease, RNase A family, 12 (non-active) NA NA extracellular region (GO:0005576) nucleic acid binding (GO:0003676) kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(95;0.00238) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.013) TCAGACTCGGGAGCTGATCTT 0.517 NA G||| 1099 0.219449 0.2973 0.1614 5008 , , NA 19131 0.1637 NA 0.1918 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 G 1219,3187 416.7+/-337.7 174,871,1158 47 49 48 1.7 0 14 dbSNP_107 48 1848,6752 325.0+/-316.7 197,1454,2649 no utr-3 RNASE12 NM_001024822.2 371,2325,3807 TT,TG,GG 21.4884,27.6668,23.5814 21058425 3067,9939 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32037.1 14q11.1 2012-10-05 ENSG00000258436 ENSG00000258436 493901 Ribonucleases, RNase A 24211 protein-coding gene gene with protein product NA Standard NM_001024822 NA Approved uc001vxt.3 Q5GAN4 OTTHUMG00000170991 ENST00000556526.1:c.*14C>A chr14.hg19:g.21058425G>T NA hg19 CCDS32037.1 0.02 10.24097 CGGxAGC COVERED NOVEL RNASE12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411107.1 3 8.427312 KEEP 0 0 0 28 992 GG 0.999997 0.999997 0 - 13 60 471 0 0 30.366745 272 60 9946 344 ENST00000556526.1 0.045614 1 EDDM3A 10876 __UNKNOWN__ __UNKNOWN__ 14 21215997 21215997 __UNKNOWN__ Silent SNP C C T rs11847654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21215997C>T ENST00000326842.2 + 2 385 c.258C>T c.(256-258)agC>agT p.S86S NM_006683.4 NP_006674.2 Q14507 EP3A_HUMAN epididymal protein 3A 86 NA sperm displacement (GO:0007321) extracellular space (GO:0005615) breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AGAAGGGGAGCGACCGATATA 0.448 NA C||| 1416 0.282748 0.1135 0.3228 5008 , , NA 20153 0.4573 NA 0.2316 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 C 587,3819 259.2+/-262.9 38,511,1654 98 93 95 258 -3.4 0 14 dbSNP_120 95 2012,6588 352.6+/-328.8 228,1556,2516 no coding-synonymous EDDM3A NM_006683.4 266,2067,4170 TT,TC,CC 23.3953,13.3227,19.9831 86/148 21215997 2599,10407 2203 4300 6503 SO:0001819 synonymous_variant X76383 CCDS9556.1 14q11.1 2010-03-19 2010-01-27 2010-01-27 ENSG00000181562 ENSG00000181562 10876 16978 protein-coding gene gene with protein product 611580 family with sequence similarity 12, member A FAM12A NA 7514008 Standard NM_006683 NA Approved HE3-ALPHA uc001vyc.3 Q14507 OTTHUMG00000029581 ENST00000326842.2:c.258C>T chr14.hg19:g.21215997C>T NA Q4KN33 hg19 CCDS9556.1 0.02 9.217178 GAGxGAC COVERED NOVEL EDDM3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073742.3 0 9.02833 KEEP 0 0 0 30 1024 CC 0.999997 0.999997 0 + 10 60 306 0 0 16.823963 266 60 9259 378 ENST00000326842.2 0.036232 1 EDDM3B 64184 __UNKNOWN__ __UNKNOWN__ 14 21238294 21238294 __UNKNOWN__ 5'UTR SNP G G A rs147631275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21238294G>A ENST00000326783.3 + 0 83 NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B NA NA extracellular region (GO:0005576) central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 ACACGCAGGCGGCCCCGGTGA 0.507 NA G||| 11 0.00219649 0.0 0.0 5008 , , NA 17766 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 33 34 34 NA NA 14 NA 21238294 2203 4300 6503 SO:0001623 5_prime_UTR_variant X76386 CCDS9557.1 14q11.1 2010-03-19 2010-01-27 2010-01-27 ENSG00000181552 ENSG00000181552 64184 19223 protein-coding gene gene with protein product 611582 family with sequence similarity 12, member B (epididymal) FAM12B NA 7514008 Standard NM_022360 NA Approved HE3-BETA uc001vyd.3 P56851 OTTHUMG00000029583 ENST00000326783.3:c.-16G>A chr14.hg19:g.21238294G>A NA A0PK89 hg19 CCDS9557.1 0.02 13.562588 GGCxGCC COVERED NOVEL EDDM3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073745.2 1 12.940341 KEEP 0 0 0 43 1441 GG 1 1 0 + 13 60 491 0 0 31.384319 325 60 11025 439 ENST00000326783.3 0.038462 1 EDDM3B 64184 __UNKNOWN__ __UNKNOWN__ 14 21238322 21238322 __UNKNOWN__ Missense_Mutation SNP C C G rs3827906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21238322C>G ENST00000326783.3 + 2 111 c.13C>G c.(13-15)Cta>Gta p.L5V NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B 5 NA L -> V (in dbSNP:rs3827906). {ECO:0000269|PubMed:15489334}. extracellular region (GO:0005576) central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 GGCATCGTCTCTAAAGATCTG 0.488 NA C||| 757 0.151158 0.2821 0.1081 5008 , , NA 18309 0.2272 NA 0.0437 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 C VAL/LEU 1055,3351 384.4+/-325.3 118,819,1266 55 54 54 13 -1.6 0 14 dbSNP_107 54 355,8245 119.4+/-178.7 9,337,3954 yes missense EDDM3B NM_022360.4 32 127,1156,5220 GG,GC,CC 4.1279,23.9446,10.8412 benign 5/148 21238322 1410,11596 2203 4300 6503 SO:0001583 missense X76386 CCDS9557.1 14q11.1 2010-03-19 2010-01-27 2010-01-27 ENSG00000181552 ENSG00000181552 64184 19223 protein-coding gene gene with protein product 611582 family with sequence similarity 12, member B (epididymal) FAM12B NA 7514008 Standard NM_022360 NA Approved HE3-BETA uc001vyd.3 P56851 OTTHUMG00000029583 ENST00000326783.3:c.13C>G chr14.hg19:g.21238322C>G ENSP00000314810:p.Leu5Val NA A0PK89 hg19 CCDS9557.1 0.02 15.493332 TCTxTAA COVERED 341 0.15613553113553114 132 0.2682926829268293 33 0.09116022099447514 145 0.2534965034965035 31 0.040897097625329816 C 8.478 0.859122 0.17178 0.239446 0.041279 ENSG00000181552 ENST00000326783 T 0.38887 1.11 4.05 -1.63 0.08345 . 0.447979 0.16477 N 0.212720 T 0.00012 0.0000 L 0.44542 1.39 0.80722 P 0.0 B 0.28900 0.227 B 0.26310 0.068 T 0.23226 -1.0194 9 0.41790 T 0.15 . 4.3409 0.11110 0.0:0.385:0.3152:0.2998 rs3827906;rs58294416;rs3827906 5 P56851 EP3B_HUMAN V 5 ENSP00000314810:L5V ENSP00000314810:L5V L + 1 2 EDDM3B 20308162 0.000000 0.05858 0.001000 0.08648 0.239000 0.25481 0.052000 0.14163 -0.199000 0.10317 -0.291000 0.09656 CTA NOVEL EDDM3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073745.2 0 15.945629 KEEP 0 0 0 53 1853 CC 1 1 0 + 12 60 445 0 0 26.966821 378 60 14504 532 ENST00000326783.3 0.030769 1 EDDM3B 64184 __UNKNOWN__ __UNKNOWN__ 14 21238871 21238871 __UNKNOWN__ 3'UTR SNP A A G rs75274080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21238871A>G ENST00000326783.3 + 0 660 NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B NA NA extracellular region (GO:0005576) central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 AATGTTTTCCAAATACTTAGA 0.373 NA A||| 139 0.0277556 0.0287 0.0043 5008 , , NA 22482 0.0843 NA 0.007 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X76386 CCDS9557.1 14q11.1 2010-03-19 2010-01-27 2010-01-27 ENSG00000181552 ENSG00000181552 64184 19223 protein-coding gene gene with protein product 611582 family with sequence similarity 12, member B (epididymal) FAM12B NA 7514008 Standard NM_022360 NA Approved HE3-BETA uc001vyd.3 P56851 OTTHUMG00000029583 ENST00000326783.3:c.*118A>G chr14.hg19:g.21238871A>G NA A0PK89 hg19 CCDS9557.1 0.02 7.388266 TCCxAAT COVERED NOVEL EDDM3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073745.2 2 4.513827 KEEP 0 0 0 15 478 AA 0.99649 0.99649 0 + 8 60 279 0 0 17.820528 157 60 5725 202 ENST00000326783.3 0.048485 1 EDDM3B 64184 __UNKNOWN__ __UNKNOWN__ 14 21239104 21239104 __UNKNOWN__ 3'UTR SNP G G C rs17096253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21239104G>C ENST00000326783.3 + 0 893 NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B NA NA extracellular region (GO:0005576) central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TTATATGACTGCAATGTGTGT 0.383 NA C||| 803 0.160343 0.3124 0.1124 5008 , , NA 21235 0.2292 NA 0.0447 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X76386 CCDS9557.1 14q11.1 2010-03-19 2010-01-27 2010-01-27 ENSG00000181552 ENSG00000181552 64184 19223 protein-coding gene gene with protein product 611582 family with sequence similarity 12, member B (epididymal) FAM12B NA 7514008 Standard NM_022360 NA Approved HE3-BETA uc001vyd.3 P56851 OTTHUMG00000029583 ENST00000326783.3:c.*351G>C chr14.hg19:g.21239104G>C NA A0PK89 hg19 CCDS9557.1 0.02 6.267226 ACTxCAA COVERED NOVEL EDDM3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073745.2 0 4.213846 KEEP 0 0 0 14 505 GG 0.995343 0.995343 0 + 7 60 255 0 0 15.959995 175 60 6566 212 ENST00000326783.3 0.038462 1 NDRG2 57447 __UNKNOWN__ __UNKNOWN__ 14 21491322 21491322 __UNKNOWN__ Intron SNP C C G rs1243450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21491322C>G ENST00000556147.1 - 2 1016 NDRG2_ENST00000403829.3_Intron|NDRG2_ENST00000553503.1_Intron|NDRG2_ENST00000397853.3_Intron|NDRG2_ENST00000298684.5_Intron|NDRG2_ENST00000397855.3_Intron|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000360463.3_Intron|NDRG2_ENST00000555158.1_Intron|NDRG2_ENST00000350792.3_Intron|NDRG2_ENST00000397858.1_Intron|NDRG2_ENST00000298687.5_Intron|NDRG2_ENST00000554143.1_Intron|NDRG2_ENST00000397851.2_Intron|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397847.2_Intron Q9UN36 NDRG2_HUMAN NDRG family member 2 NA NA cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634) breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 23 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AAGATCAGTACGCTTGGGAAG 0.507 NA G||| 1096 0.21885 0.1263 0.2161 5008 , , NA 21501 0.4514 NA 0.0895 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033074 CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1 14q11.2 2008-07-09 ENSG00000165795 ENSG00000165795 57447 14460 protein-coding gene gene with protein product 605272 NA 10831399 Standard NM_201535 NA Approved KIAA1248, SYLD uc001vyx.3 Q9UN36 OTTHUMG00000029619 ENST00000556147.1:c.75+77G>C chr14.hg19:g.21491322C>G NA B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2 hg19 CCDS9565.1 0.02 24.036908 GTAxGCT COVERED NOVEL NDRG2-013 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411717.1 1 26.155086 KEEP 0 0 0 87 2845 CC 1 1 0 - 17 60 633 0 0 38.177157 557 60 18554 715 ENST00000556147.1 0.029617 1 TPPP2 122664 __UNKNOWN__ __UNKNOWN__ 14 21499561 21499561 __UNKNOWN__ Intron SNP G G A rs1243460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21499561G>A ENST00000321760.6 + 3 475 NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Intron NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 NA NA cytoplasm (GO:0005737) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) tcTAGTATCTGAGCCAGGCAA 0.423 NA G||| 810 0.161741 0.0325 0.2666 5008 , , NA 20777 0.2857 NA 0.1302 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY072034 CCDS9566.1 14q11.2 2014-01-21 2007-05-02 2007-05-02 ENSG00000179636 ENSG00000179636 122664 19293 protein-coding gene gene with protein product chromosome 14 open reading frame 8 C14orf8 NA 15590652, 17105200 Standard NM_173846 NM_173846 NA Approved p25beta, p18, CT152 uc001vzh.3 P59282 OTTHUMG00000029642 ENST00000321760.6:c.327+237G>A chr14.hg19:g.21499561G>A NA Q2VYF3 hg19 CCDS9566.1 0.02 4.021612 TCTxAGC COVERED NOVEL TPPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073914.3 1 2.708666 KEEP 0 0 0 9 306 GG 0.99254 0.99254 0 + 10 60 356 0 0 24.636878 133 60 4844 155 ENST00000321760.6 0.06993 1 TPPP2 122664 __UNKNOWN__ __UNKNOWN__ 14 21500121 21500121 __UNKNOWN__ Missense_Mutation SNP G G T rs9624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21500121G>T ENST00000321760.6 + 4 546 c.398G>T c.(397-399)cGc>cTc p.R133L NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.R133L NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 133 NA R -> L (in dbSNP:rs9624). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.2}. cytoplasm (GO:0005737) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) CACAAGGAGCGCTTTGATGAG 0.542 NA G||| 800 0.159744 0.0227 0.2651 5008 , , NA 20356 0.2847 NA 0.1322 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 G LEU/ARG 160,4246 108.6+/-147.0 3,154,2046 143 110 121 398 3.6 1 14 dbSNP_52 121 1088,7512 227.9+/-263.1 67,954,3279 yes missense TPPP2 NM_173846.4 102 70,1108,5325 TT,TG,GG 12.6512,3.6314,9.5956 probably-damaging 133/171 21500121 1248,11758 2203 4300 6503 SO:0001583 missense AY072034 CCDS9566.1 14q11.2 2014-01-21 2007-05-02 2007-05-02 ENSG00000179636 ENSG00000179636 122664 19293 protein-coding gene gene with protein product chromosome 14 open reading frame 8 C14orf8 NA 15590652, 17105200 Standard NM_173846 NM_173846 NA Approved p25beta, p18, CT152 uc001vzh.3 P59282 OTTHUMG00000029642 ENST00000321760.6:c.398G>T chr14.hg19:g.21500121G>T ENSP00000317595:p.Arg133Leu NA Q2VYF3 hg19 CCDS9566.1 0.02 6.950666 AGCxCTT COVERED 356 0.163003663003663 15 0.03048780487804878 76 0.20994475138121546 171 0.29895104895104896 94 0.12401055408970976 G 22.1 4.239688 0.79800 0.036314 0.126512 ENSG00000179636 ENST00000321760;ENST00000530140 T;T 0.58797 0.31;0.31 4.49 3.59 0.41128 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.93763 3.455 0.09310 P 0.999999857937 D 0.71674 0.998 D 0.87578 0.998 T 0.02184 -1.1199 9 0.72032 D 0.01 1.1561 11.9813 0.53121 0.0:0.0:0.8258:0.1742 rs9624;rs1750658;rs3818610;rs17846241;rs17859260;rs52826016;rs61479083;rs9624 133 P59282 TPPP2_HUMAN L 133 ENSP00000317595:R133L;ENSP00000435356:R133L ENSP00000317595:R133L R + 2 0 TPPP2 20569961 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 7.796000 0.85898 1.227000 0.43598 0.650000 0.86243 CGC NOVEL TPPP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073914.3 0 16.549791 KEEP 0 0 0 55 1839 GG 1 1 0 + 9 60 340 0 0 23.228112 152 60 5160 262 ENST00000321760.6 0.055901 1 RNASE13 440163 __UNKNOWN__ __UNKNOWN__ 14 21501742 21501742 __UNKNOWN__ 3'UTR SNP A A G rs1268410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21501742A>G ENST00000382951.3 - 0 843 NDRG2_ENST00000403829.3_Intron|RP11-998D10.1_ENST00000531638.1_Intron NM_001012264.3 NP_001012264.1 Q5GAN3 RNS13_HUMAN ribonuclease, RNase A family, 13 (non-active) NA NA extracellular region (GO:0005576) nucleic acid binding (GO:0003676) cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 12 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.019) CTGGGAGAGGAAGGATGATGA 0.527 NA G||| 1110 0.221645 0.1195 0.2781 5008 , , NA 19615 0.3968 NA 0.17 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY665808 CCDS32039.1 14q11.1 2011-02-10 ENSG00000206150 ENSG00000206150 440163 Ribonucleases, RNase A 25285 protein-coding gene gene with protein product NA Standard NM_001012264 NA Approved uc001vzj.3 Q5GAN3 ENST00000382951.3:c.*235T>C chr14.hg19:g.21501742A>G NA hg19 CCDS32039.1 0.02 7.098239 AGGxAGG COVERED NOVEL RNASE13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411744.1 1 21.058331 KEEP 0 0 0 70 2091 AA 1 1 0 - 6 60 234 0 0 14.731288 182 60 6287 334 ENST00000382951.3 0.031915 1 RNASE7 84659 __UNKNOWN__ __UNKNOWN__ 14 21511789 21511789 __UNKNOWN__ 3'UTR SNP G G A rs2282036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21511789G>A ENST00000298690.4 + 0 895 NDRG2_ENST00000403829.3_Intron NM_032572.3 NP_115961 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 NA NA antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540) endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0191) GAGCTCTAGAGGGATGGCTTT 0.517 NA G||| 1217 0.243011 0.0998 0.2161 5008 , , NA 20130 0.3621 NA 0.2793 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ131212 CCDS41914.1 14q11.1 2013-02-15 ENSG00000165799 ENSG00000165799 84659 Ribonucleases, RNase A 19278 protein-coding gene gene with protein product 612484 NA 12244054, 12527768 Standard NM_032572 NM_032572 NA Approved uc001vzk.4 Q9H1E1 OTTHUMG00000171358 ENST00000298690.4:c.*167G>A chr14.hg19:g.21511789G>A NA P80927|P83685|Q546N3 hg19 CCDS41914.1 0.02 6.246872 AGAxGGA COVERED NOVEL RNASE7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313936.1 2 5.052192 KEEP 0 1 35 29 1019 GG 0.999997 0.999997 0 + 6 60 211 0 0 12.653057 167 60 6152 220 ENST00000298690.4 0.034682 1 OR5AU1 390445 __UNKNOWN__ __UNKNOWN__ 14 21623053 21623053 __UNKNOWN__ 3'UTR SNP G G T rs45468597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21623053G>T ENST00000304418.3 - 0 1169 NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TAAGGTAAAAGTTCCCTTGAC 0.448 NA G||| 312 0.0623003 0.0787 0.0692 5008 , , NA 15359 0.0446 NA 0.0696 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 G 320,4078 11,298,1890 49 49 49 -1.1 0 14 dbSNP_127 49 449,8127 10,429,3849 no near-gene-3 21,727,5739 TT,TG,GG 5.2355,7.276,5.9272 21623053 769,12205 2199 4288 6487 SO:0001624 3_prime_UTR_variant AL157687 CCDS32042.1 14q11.2 2013-09-23 ENSG00000169327 ENSG00000169327 390445 GPCR / Class A : Olfactory receptors 15362 protein-coding gene gene with protein product NA Standard NM_001004731 NA Approved uc010tlp.2 Q8NGC0 OTTHUMG00000170753 ENST00000304418.3:c.*43C>A chr14.hg19:g.21623053G>T NA B2RP78|Q6IEU2|Q96R10 hg19 CCDS32042.1 0.02 17.137398 AAAxTTC COVERED NOVEL OR5AU1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410213.1 1 12.340065 KEEP 0 0 0 41 1486 GG 1 1 0 - 13 60 452 0 0 26.720823 405 60 15442 588 ENST00000304418.3 0.0311 1 RPGRIP1 57096 __UNKNOWN__ __UNKNOWN__ 14 21778792 21778792 __UNKNOWN__ Intron SNP T T C rs1957414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21778792T>C ENST00000400017.2 + 7 930 RPGRIP1_ENST00000557771.1_Intron|RPGRIP1_ENST00000206660.6_Intron|RPGRIP1_ENST00000556336.1_Intron NM_020366.3 NP_065099.3 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 NA NA eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513) breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGAGTCTCTGTTTCTTAGTAA 0.294 NA T||| 1968 0.392971 0.3336 0.4049 5008 , , NA 15713 0.5704 NA 0.2614 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 T 1198,2452 203,792,830 43 41 42 2.8 0 14 dbSNP_92 42 2111,5995 276,1559,2218 no intron RPGRIP1 NM_020366.3 479,2351,3048 CC,CT,TT 26.0424,32.8219,28.1473 21778792 3309,8447 1825 4053 5878 SO:0001627 intron_variant AF227257 CCDS45080.1 14q11.2 2013-06-06 ENSG00000092200 ENSG00000092200 57096 13436 protein-coding gene gene with protein product 605446 RPGRIP NA 10958647, 10958648 Standard NM_020366 NM_020366 NA Approved RGI1, LCA6, CORD13 uc001wag.3 Q96KN7 OTTHUMG00000170758 ENST00000400017.2:c.930+26T>C chr14.hg19:g.21778792T>C NA Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40 hg19 CCDS45080.1 0.02 4.611465 CTGxTTC COVERED NOVEL RPGRIP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000410258.1 1 4.348612 KEEP 0 1 33 26 858 TT 0.999988 0.999988 0 + 10 60 392 0 0 28.201379 134 60 4865 220 ENST00000400017.2 0.069444 1 CHD8 57680 __UNKNOWN__ __UNKNOWN__ 14 21905453 21905453 __UNKNOWN__ Intron SNP G G A rs74492940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21905453G>A ENST00000557364.1 - 2 49 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 NA NA ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TGCCCGCCCCGCGCCATCATT 0.642 NA G||| 16 0.00319489 0.0 0.0 5008 , , NA 14699 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046784 CCDS45081.1, CCDS53885.1 14q11.2 2008-02-05 2004-06-22 2004-06-23 ENSG00000100888 57680 20153 protein-coding gene gene with protein product 610528 helicase with SNF2 domain 1 HELSNF1 NA 10997877 Standard NM_020920 NM_020920 NA Approved KIAA1564, DUPLIN uc001war.2 Q9HCK8 ENST00000557364.1:c.215-5436C>T chr14.hg19:g.21905453G>A NA Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26 hg19 CCDS53885.1 0.02 2.247024 CCCxCGC COVERED NOVEL CHD8-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000410436.1 1 9.932458 KEEP 0 0 0 33 1186 GG 0.999998 0.997895 0 - 4 60 134 0 0 8.58217 69 60 2546 123 ENST00000557364.1 0.054795 0.997898 TOX4 9878 __UNKNOWN__ __UNKNOWN__ 14 21960816 21960816 __UNKNOWN__ Silent SNP T T C rs1060722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21960816T>C ENST00000405508.1 + 8 1317 c.1041T>C c.(1039-1041)ctT>ctC p.L347L TOX4_ENST00000262709.3_Silent_p.L347L|TOX4_ENST00000448790.2_Silent_p.L324L O94842 TOX4_HUMAN TOX high mobility group box family member 4 347 NA chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357) DNA binding (GO:0003677) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) ACTCCACCCTTTCATCCTATG 0.493 NA T||| 2482 0.495607 0.4281 0.3746 5008 , , NA 18322 0.6488 NA 0.503 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 T 2066,2340 570.7+/-382.9 476,1114,613 114 116 116 1041 1.4 1 14 dbSNP_86 116 4318,4282 578.9+/-390.8 1124,2070,1106 no coding-synonymous TOX4 NM_014828.2 1600,3184,1719 CC,CT,TT 49.7907,46.8906,49.085 347/622 21960816 6384,6622 2203 4300 6503 SO:0001819 synonymous_variant AB018280 CCDS32043.1 14q11.2 2007-03-20 2007-03-20 2007-03-20 ENSG00000092203 ENSG00000092203 9878 20161 protein-coding gene gene with protein product 614032 chromosome 14 open reading frame 92, KIAA0737 C14orf92, KIAA0737 NA Standard NM_014828 NM_014828 NA Approved LCP1 uc001waz.3 O94842 OTTHUMG00000150278 ENST00000405508.1:c.1041T>C chr14.hg19:g.21960816T>C NA B4DPY8|B4DSM0|E7EV69 hg19 CCDS32043.1 0.02 2.11753 CCTxTCA COVERED NOVEL TOX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317287.2 3 3.309926 KEEP 0 0 0 11 342 TT 0.993072 0.986819 0 + 4 60 150 0 0 10.384006 61 60 2162 79 ENST00000405508.1 0.061538 0.993703 TOX4 9878 __UNKNOWN__ __UNKNOWN__ 14 21960969 21960969 __UNKNOWN__ Silent SNP G G A rs7617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:21960969G>A ENST00000405508.1 + 8 1470 c.1194G>A c.(1192-1194)cgG>cgA p.R398R TOX4_ENST00000262709.3_Silent_p.R398R|TOX4_ENST00000448790.2_Silent_p.R375R O94842 TOX4_HUMAN TOX high mobility group box family member 4 398 NA chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357) DNA binding (GO:0003677) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TGACCTCCCGGGGGCTCCAAC 0.512 NA G||| 2480 0.495208 0.4274 0.3746 5008 , , NA 18365 0.6488 NA 0.502 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 G 2060,2346 569.2+/-382.6 473,1114,616 92 100 98 1194 1.9 1 14 dbSNP_52 98 4322,4278 579.2+/-390.9 1127,2068,1105 no coding-synonymous TOX4 NM_014828.2 1600,3182,1721 AA,AG,GG 49.7442,46.7544,49.0697 398/622 21960969 6382,6624 2203 4300 6503 SO:0001819 synonymous_variant AB018280 CCDS32043.1 14q11.2 2007-03-20 2007-03-20 2007-03-20 ENSG00000092203 ENSG00000092203 9878 20161 protein-coding gene gene with protein product 614032 chromosome 14 open reading frame 92, KIAA0737 C14orf92, KIAA0737 NA Standard NM_014828 NM_014828 NA Approved LCP1 uc001waz.3 O94842 OTTHUMG00000150278 ENST00000405508.1:c.1194G>A chr14.hg19:g.21960969G>A NA B4DPY8|B4DSM0|E7EV69 hg19 CCDS32043.1 0.02 9.036174 CCGxGGG COVERED NOVEL TOX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317287.2 0 19.560672 KEEP 0 0 0 65 2280 GG 1 1 0 + 12 60 455 0 0 30.517378 229 60 8387 417 ENST00000405508.1 0.049793 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22037876 22037876 __UNKNOWN__ IGR SNP C C T rs80231832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22037876C>T NA NA SALL2 (32526 upstream) : OR10G3 (57 downstream) NA NA NA GTTACCGAAGCCTAAACATTA 0.343 NA C||| 853 0.170327 0.0083 0.2075 5008 , , NA 16639 0.3909 NA 0.0915 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22037876C>T NA hg19 0.02 8.717239 AAGxCTA COVERED NOVEL 0 3 6.454739 KEEP 0 1 27 31 1096 CC 0.999997 0.999997 0 18 60 648 0 0 45.911389 214 60 7928 308 0.077586 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22038915 22038915 __UNKNOWN__ IGR SNP A A G rs4982462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22038915A>G NA NA OR10G3 (40 upstream) : TRAV1-1 (51075 downstream) NA NA NA CAAAACAAGAATTAACATAGA 0.418 NA G||| 2565 0.512181 0.3442 0.6412 5008 , , NA 20742 0.6667 NA 0.4652 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 G 1514,2738 283,948,895 19 19 19 -2.6 0 14 dbSNP_111 19 3914,4600 924,2066,1267 no near-gene-5 1207,3014,2162 GG,GA,AA 45.9713,35.6068,42.5192 22038915 5428,7338 2126 4257 6383 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22038915A>G NA hg19 0.02 9.764116 AGAxTTA COVERED NOVEL 0 1 3.60998 KEEP 0 0 0 12 370 AA 0.993634 0.993634 0 10 60 382 0 0 25.433477 204 60 7491 259 0.046729 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22079962 22079962 __UNKNOWN__ IGR SNP T T A rs7151805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22079962T>A NA NA OR10G3 (41087 upstream) : TRAV1-1 (10028 downstream) NA NA NA GGCTGAAGATTTCTGGGCTTT 0.373 NA a||| 1454 0.290335 0.2708 0.2305 5008 , , NA 17991 0.4077 NA 0.2435 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22079962T>A NA hg19 0.02 3.943343 GATxTCT COVERED NOVEL 0 0 3.008346 KEEP 0 0 0 10 296 TT 0.992708 0.992706 0 8 60 230 0 0 14.5744 109 60 3847 150 0.068376 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22079982 22079982 __UNKNOWN__ IGR SNP A A G rs7147294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22079982A>G NA NA OR10G3 (41107 upstream) : TRAV1-1 (10008 downstream) NA NA NA TTTTTGTTCTATAATGTTTCT 0.358 NA G||| 1454 0.290335 0.2708 0.2305 5008 , , NA 18868 0.4077 NA 0.2435 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22079982A>G NA hg19 0.02 4.223226 TCTxTAA COVERED NOVEL 0 0 3.310271 KEEP 0 0 0 11 351 AA 0.993072 0.993072 0 8 60 284 0 0 18.865482 134 60 4721 192 0.056338 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22134245 22134245 __UNKNOWN__ IGR SNP T T C rs12435524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22134245T>C NA NA OR4E2 (7 upstream) : TRAV2 (46298 downstream) NA NA NA ATAATGGGCATTGGGATTGCA 0.368 NA T||| 969 0.19349 0.1664 0.1412 5008 , , NA 19670 0.3155 NA 0.1481 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 T 531,3279 47,437,1421 21 19 20 0.2 0 14 dbSNP_120 20 1103,7161 77,949,3106 no near-gene-3 124,1386,4527 CC,CT,TT 13.347,13.937,13.5332 22134245 1634,10440 1905 4132 6037 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22134245T>C NA hg19 0.02 28.759155 GCAxTGG COVERED NOVEL 0 0 16.249622 KEEP 0 0 0 54 1741 TT 1 1 0 17 60 643 0 0 37.893386 664 60 24435 909 0.024963 1 TRAV6 6956 __UNKNOWN__ __UNKNOWN__ 14 22236756 22236756 __UNKNOWN__ RNA SNP G G C rs552119997|rs766738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22236756G>C ENST00000390428.3 + 0 28 T cell receptor alpha variable 6 NA NA NA GGCTGAGAAGGCTGGGTCTAC 0.473 NA 920 0.183706 0.1286 0.2161 5008 , , NA 21340 0.3026 NA 0.1034 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G 460,3390 31,398,1496 215 212 213 -8.5 0 14 dbSNP_86 213 643,7605 33,577,3514 no intergenic 64,975,5010 CC,CG,GG 7.7958,11.9481,9.1172 22236756 1103,10995 1925 4124 6049 Z49060 14q11.2 2012-02-07 ENSG00000211780 ENSG00000211780 6956 T cell receptors / TRA locus 12144 other T cell receptor gene TCRAV5S1 NA 8188290, 8530018 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000168984 ENST00000390428.3: chr14.hg19:g.22236756G>C NA hg19 0.02 4.575838 AAGxCTG COVERED NOVEL TRAV6-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000401882.1 1 5.716847 KEEP 0 0 0 19 655 GG 0.99986 0.999856 0 + 12 60 407 0 0 29.904333 102 60 3766 165 ENST00000390428.3 0.105263 0.999996 TRAV6 6956 __UNKNOWN__ __UNKNOWN__ 14 22237070 22237070 __UNKNOWN__ RNA SNP C C T rs2075486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22237070C>T ENST00000390428.3 + 0 154 T cell receptor alpha variable 6 NA NA NA ATTCCGAGGCCCTGAACATTC 0.483 NA C||| 918 0.183307 0.1286 0.2133 5008 , , NA 20238 0.3026 NA 0.1034 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 C 453,3353 30,393,1480 50 48 49 2 0 14 dbSNP_96 49 645,7611 31,583,3514 no intergenic 61,976,4994 TT,TC,CC 7.8125,11.9023,9.103 22237070 1098,10964 1903 4128 6031 Z49060 14q11.2 2012-02-07 ENSG00000211780 ENSG00000211780 6956 T cell receptors / TRA locus 12144 other T cell receptor gene TCRAV5S1 NA 8188290, 8530018 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000168984 ENST00000390428.3: chr14.hg19:g.22237070C>T NA hg19 0.02 4.455622 GGCxCTG COVERED NOVEL TRAV6-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000401882.1 1 6.019505 KEEP 0 0 0 20 700 CC 0.999863 0.999863 0 + 9 60 338 0 0 23.619433 130 60 4802 187 ENST00000390428.3 0.064748 1 TRAV12-1 28674 __UNKNOWN__ __UNKNOWN__ 14 22309847 22309847 __UNKNOWN__ RNA SNP T T C rs61745106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22309847T>C ENST00000390433.1 + 0 231 T cell receptor alpha variable 12-1 NA NA NA CCAGTGGTAATGAAGATGGAA 0.463 NA C||| 247 0.0493211 0.0257 0.0058 5008 , , NA 19836 0.1567 NA 0.001 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 C 94,3790 2,90,1850 106 102 103 -9.5 0 14 dbSNP_129 103 16,8284 0,16,4134 no intergenic 2,106,5984 CC,CT,TT 0.1928,2.4202,0.9028 22309847 110,12074 1942 4150 6092 AE000659 14q11.2 2012-02-07 ENSG00000211785 ENSG00000211785 28674 T cell receptors / TRA locus 12105 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved uc001wbx.2 OTTHUMG00000168990 ENST00000390433.1: chr14.hg19:g.22309847T>C NA hg19 0.02 7.791516 TAAxGAA COVERED NOVEL TRAV12-1-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000401888.1 1 7.22248 KEEP 0 0 0 24 779 TT 0.999909 0.999909 0 + 17 60 567 0 0 39.524622 184 60 6807 278 ENST00000390433.1 0.084577 1 TRAV12-2 28673 __UNKNOWN__ __UNKNOWN__ 14 22356491 22356491 __UNKNOWN__ RNA SNP G G T rs17182881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22356491G>T ENST00000390437.2 + 0 254 T cell receptor alpha variable 12-2 NA NA NA AGTGACCGAGGTTCCCAGTCC 0.483 NA G||| 1272 0.253994 0.4319 0.0879 5008 , , NA 19104 0.4038 NA 0.0527 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 G 1365,2391 259,847,772 91 90 90 -5.2 0 14 dbSNP_123 90 443,7779 18,407,3686 no intergenic 277,1254,4458 TT,TG,GG 5.388,36.3419,15.0943 22356491 1808,10170 1878 4111 5989 AE000659 14q11.2 2012-02-07 ENSG00000211789 ENSG00000211789 28673 T cell receptors / TRA locus 12106 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000168994 ENST00000390437.2: chr14.hg19:g.22356491G>T NA hg19 0.02 10.870944 GAGxTTC COVERED NOVEL TRAV12-2-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000401892.1 2 7.223368 KEEP 0 0 0 24 851 GG 0.999909 0.999909 0 + 15 60 544 0 0 36.406465 255 60 9356 352 ENST00000390437.2 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22534141 22534141 __UNKNOWN__ IGR SNP T T C rs3811311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22534141T>C NA NA TRAV21 (12826 upstream) : TRAV22 (4678 downstream) NA NA NA TCATTGTGTGTCTTGACGCTT 0.478 NA T||| 1217 0.243011 0.3691 0.0836 5008 , , NA 19381 0.3284 NA 0.1193 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22534141T>C NA hg19 0.02 4.364924 GTGxCTT COVERED NOVEL 0 0 2.407559 KEEP 0 0 0 8 261 TT 0.99257 0.99257 0 5 60 185 0 0 11.554559 133 60 4759 158 0.036232 1 TRAV23DV6 28660 __UNKNOWN__ __UNKNOWN__ 14 22555013 22555013 __UNKNOWN__ RNA SNP T T C rs2272549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22555013T>C ENST00000390451.2 + 0 184 T cell receptor alpha variable 23/delta variable 6 NA NA NA AGGAGGGATTTCAATTATAAA 0.448 NA T||| 865 0.172724 0.0635 0.2248 5008 , , NA 19997 0.3234 NA 0.0974 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 T 238,3508 5,228,1640 87 93 91 -2.9 0 14 dbSNP_100 91 852,7360 58,736,3312 no intergenic 63,964,4952 CC,CT,TT 10.3751,6.3534,9.1152 22555013 1090,10868 1873 4106 5979 AE000660 14q11.2 2012-02-07 ENSG00000211803 ENSG00000211803 28660 T cell receptors / TRA locus 12120 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved TRAV23/DV6, TCRAV17S1 OTTHUMG00000170650 ENST00000390451.2: chr14.hg19:g.22555013T>C NA hg19 0.02 10.254931 ATTxCAA COVERED NOVEL TRAV23DV6-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000409898.1 0 15.343475 KEEP 0 0 0 51 1577 TT 1 1 0 + 9 60 330 0 0 20.136682 263 60 9435 375 ENST00000390451.2 0.033088 1 TRAV27 28655 __UNKNOWN__ __UNKNOWN__ 14 22616547 22616547 __UNKNOWN__ RNA SNP A A G rs2293730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22616547A>G ENST00000390457.2 + 0 385 T cell receptor alpha variable 27 NA NA NA ACATCACTGCAGCCCAGCCTG 0.552 NA G||| 1954 0.390176 0.3359 0.3271 5008 , , NA 19898 0.626 NA 0.2644 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 G 1168,2840 172,824,1008 54 55 55 -10 0 14 dbSNP_100 55 2195,6157 282,1631,2263 no intergenic 454,2455,3271 GG,GA,AA 26.2811,29.1417,27.2087 22616547 3363,8997 2004 4176 6180 AE000660 14q11.2 2012-02-07 ENSG00000211809 ENSG00000211809 28655 T cell receptors / TRA locus 12125 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000170656 ENST00000390457.2: chr14.hg19:g.22616547A>G NA hg19 0.02 4.713585 TGCxGCC COVERED NOVEL TRAV27-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000409904.1 3 4.513148 KEEP 0 0 0 15 463 AA 0.99649 0.996489 0 + 6 60 217 0 0 14.22263 114 60 4292 166 ENST00000390457.2 0.05 0.999999 TRAV29DV5 28653 __UNKNOWN__ __UNKNOWN__ 14 22631217 22631217 __UNKNOWN__ RNA SNP C C T rs2075492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22631217C>T ENST00000390458.3 + 0 84 T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene) NA NA NA AGGCAGGAGACAAGACAATCT 0.493 NA OREG0022575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1844 0.368211 0.2814 0.3141 5008 , , NA 17685 0.6141 NA 0.2505 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 C 1009,2885 136,737,1074 65 68 67 -3.9 0 14 dbSNP_96 67 2311,6009 319,1673,2168 no intergenic 455,2410,3242 TT,TC,CC 27.7764,25.9117,27.1819 22631217 3320,8894 1947 4160 6107 AE000660 14q11.2 2012-02-07 2008-09-12 ENSG00000211810 ENSG00000211810 28653 T cell receptors / TRA locus 12127 other T cell receptor gene T cell receptor alpha variable 29/delta variable 5 NA 8188290 Standard NG_001332 NG_001332 NA Approved TRAV29/DV5 OTTHUMG00000170658 ENST00000390458.3: chr14.hg19:g.22631217C>T 757 hg19 0.02 6.514239 AGAxAAG COVERED NOVEL TRAV29DV5-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000409906.1 0 9.02971 KEEP 0 0 0 30 1080 CC 0.999997 0.999997 0 + 16 60 536 0 0 37.532054 172 60 6498 273 ENST00000390458.3 0.085106 1 TRAV30 28652 __UNKNOWN__ __UNKNOWN__ 14 22636784 22636784 __UNKNOWN__ RNA SNP A A C rs11157435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22636784A>C ENST00000557168.1 + 0 237 T cell receptor alpha variable 30 NA NA NA AGGGTCATGAAAAAATATCTG 0.458 NA C||| 1609 0.321286 0.1051 0.3098 5008 , , NA 19622 0.627 NA 0.2495 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 C 516,3180 39,438,1371 61 63 62 -8.4 0 14 dbSNP_120 62 2275,5943 316,1643,2150 no intergenic 355,2081,3521 CC,CA,AA 27.6831,13.961,23.4262 22636784 2791,9123 1848 4109 5957 AE000660 14q11.2 2012-02-07 ENSG00000259092 ENSG00000259092 28652 T cell receptors / TRA locus 12129 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000170659 ENST00000557168.1: chr14.hg19:g.22636784A>C NA hg19 0.02 9.868993 TGAxAAA COVERED NOVEL TRAV30-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000409907.1 1 9.628364 KEEP 0 0 0 32 992 AA 0.999997 0.999997 0 + 12 60 449 0 0 30.839013 191 60 6899 295 ENST00000557168.1 0.059113 1 TRAV30 28652 __UNKNOWN__ __UNKNOWN__ 14 22636874 22636874 __UNKNOWN__ RNA SNP C C T rs11157436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22636874C>T ENST00000557168.1 + 0 327 T cell receptor alpha variable 30 NA NA NA CCTACTTCTGCGGCACAGAGA 0.498 NA T||| 1435 0.286542 0.0582 0.2723 5008 , , NA 18299 0.6141 NA 0.1909 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 T 314,3482 12,290,1596 37 38 38 1 0 14 dbSNP_120 38 1653,6595 153,1347,2624 no intergenic 165,1637,4220 TT,TC,CC 20.0412,8.2719,16.3318 22636874 1967,10077 1898 4124 6022 AE000660 14q11.2 2012-02-07 ENSG00000259092 ENSG00000259092 28652 T cell receptors / TRA locus 12129 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000170659 ENST00000557168.1: chr14.hg19:g.22636874C>T NA hg19 0.02 4.347043 CTGxGGC COVERED NOVEL TRAV30-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000409907.1 1 5.116366 KEEP 0 0 0 17 610 CC 0.999366 0.999366 0 + 7 60 267 0 0 17.973246 133 60 4678 203 ENST00000557168.1 0.05 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22670458 22670458 __UNKNOWN__ IGR SNP C C T rs2075494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22670458C>T NA NA TRAV30 (33574 upstream) : TRAV26-2 (18 downstream) NA NA NA GGCCTGGAACCTCAATGTGCA 0.483 NA C||| 1457 0.290935 0.0825 0.2767 5008 , , NA 16475 0.6101 NA 0.1859 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 C 442,3592 23,396,1598 77 82 80 -2.2 0 14 dbSNP_96 80 1657,6703 145,1367,2668 no intergenic 168,1763,4266 TT,TC,CC 19.8206,10.9569,16.9356 22670458 2099,10295 2017 4180 6197 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22670458C>T NA hg19 0.02 6.612641 AACxTCA COVERED NOVEL 0 0 2.407851 KEEP 0 0 0 8 282 CC 0.99257 0.99257 0 14 60 505 0 0 36.812607 140 60 5089 180 0.090909 1 TRAV26-2 28656 __UNKNOWN__ __UNKNOWN__ 14 22670975 22670975 __UNKNOWN__ RNA SNP G G A rs2242542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22670975G>A ENST00000390460.1 + 0 40 T cell receptor alpha variable 26-2 NA NA NA CAACCCCATAGGTATTATGGG 0.483 NA G||| 1458 0.291134 0.0825 0.2767 5008 , , NA 22499 0.6111 NA 0.1859 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 G 428,3460 22,384,1538 63 63 63 4.6 0.8 14 dbSNP_98 63 1650,6660 145,1360,2650 no intergenic 167,1744,4188 AA,AG,GG 19.8556,11.0082,17.0356 22670975 2078,10120 1944 4155 6099 AE000660 14q11.2 2012-02-07 ENSG00000211812 ENSG00000211812 28656 T cell receptors / TRA locus 12124 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved TRAV262, TCRAV4S1, TCRAV26S2 OTTHUMG00000170663 ENST00000390460.1: chr14.hg19:g.22670975G>A NA hg19 0.02 4.92193 ATAxGTA COVERED NOVEL TRAV26-2-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene NA TR_V_gene OTTHUMT00000409911.1 1 4.514953 KEEP 0 0 0 15 552 GG 0.99649 0.996489 0 + 11 60 404 0 0 29.687639 109 60 4058 155 ENST00000390460.1 0.091667 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22733758 22733758 __UNKNOWN__ IGR SNP G G T rs7145836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22733758G>T NA NA TRAV36DV7 (38609 upstream) : TRAV38-1 (6092 downstream) NA NA NA GAAAGATCCCGGGGACAATCT 0.458 NA G||| 1517 0.302915 0.4531 0.2594 5008 , , NA 19002 0.3542 NA 0.1332 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22733758G>T NA hg19 0.02 2.027718 CCCxGGG COVERED NOVEL 0 1 6.620902 KEEP 0 0 0 22 746 GG 0.999879 0.999827 0 10 60 382 0 0 28.94767 88 60 3115 148 0.102041 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22788610 22788610 __UNKNOWN__ IGR SNP T T C rs10143357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22788610T>C NA NA TRAV40 (5259 upstream) : TRAV41 (9 downstream) NA NA NA GAGCTTCTGCTGCAGTAATAA 0.378 NA T||| 341 0.0680911 0.0741 0.0548 5008 , , NA 18921 0.0605 NA 0.0765 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 T 265,3379 9,247,1566 171 167 168 1.5 0 14 dbSNP_119 168 650,7510 30,590,3460 no intergenic 39,837,5026 CC,CT,TT 7.9657,7.2722,7.7516 22788610 915,10889 1822 4080 5902 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22788610T>C NA hg19 0.02 8.441169 TGCxGCA COVERED NOVEL 0 3 16.851424 KEEP 0 0 0 56 1782 TT 1 1 0 10 60 341 0 0 21.279728 208 60 7827 347 0.045872 1 AE000661.37 0 __UNKNOWN__ __UNKNOWN__ 14 22947818 22947818 __UNKNOWN__ RNA SNP T T A rs2877437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22947818T>A ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA NA NA NA CAGCCCGTGATGGAAGGGTCT 0.493 NA T||| 985 0.196685 0.0825 0.0504 5008 , , NA 16980 0.4782 NA 0.0984 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 T 268,3384 14,240,1572 40 42 42 0 0 14 dbSNP_101 42 804,7356 39,726,3315 no intergenic 53,966,4887 AA,AT,TT 9.8529,7.3384,9.0755 22947818 1072,10740 1826 4080 5906 NA NA NA NA ENST00000514473.2: chr14.hg19:g.22947818T>A NA hg19 0.02 4.337035 TGAxGGA COVERED NOVEL AE000661.37-006 KNOWN basic antisense NA processed_transcript OTTHUMT00000401530.1 1 6.01551 KEEP 0 0 0 20 594 TT 0.999863 0.999852 0 - 7 60 253 0 0 17.415184 100 60 3650 143 ENST00000514473.2 0.065421 0.999989 TRAJ57 28698 __UNKNOWN__ __UNKNOWN__ 14 22947903 22947903 __UNKNOWN__ RNA SNP C C T rs1872159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22947903C>T ENST00000390482.1 + 0 43 AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000556777.1_RNA T cell receptor alpha joining 57 NA NA NA GGAAAGGGAACGAAACTGACA 0.463 NA C||| 922 0.184105 0.0393 0.049 5008 , , NA 17704 0.4792 NA 0.0974 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 C 185,3523 9,167,1678 69 73 72 4.8 0.9 14 dbSNP_92 72 810,7388 39,732,3328 no intergenic 48,899,5006 TT,TC,CC 9.8805,4.9892,8.3571 22947903 995,10911 1854 4099 5953 M94081 14q11.2 2012-02-07 ENSG00000211834 ENSG00000211834 28698 T cell receptors / TRA locus 12089 other T cell receptor gene NA 8188290 Standard NG_001332 NG_001332 NA Approved OTTHUMG00000170910 ENST00000390482.1: chr14.hg19:g.22947903C>T NA hg19 0.02 8.829888 GAAxGAA COVERED NOVEL TRAJ57-001 KNOWN mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal TR_J_gene NA TR_J_gene OTTHUMT00000410941.1 0 16.786991 KEEP 0 1 26 65 2238 CC 1 1 0 + 12 60 444 0 0 29.930842 207 60 7303 334 ENST00000390482.1 0.054795 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 22959592 22959592 __UNKNOWN__ IGR SNP A A G rs3751467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:22959592A>G NA NA TRAJ48 (51 upstream) : TRAJ47 (2245 downstream) NA NA NA GATTCTGGGGATCATAGTAGA 0.438 NA G||| 474 0.0946486 0.1596 0.0807 5008 , , NA 18647 0.1071 NA 0.0368 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 G 239,1717 21,197,760 70 69 70 -0.6 0 14 dbSNP_107 70 190,4024 8,174,1925 no intergenic 29,371,2685 GG,GA,AA 4.5088,12.2188,6.953 22959592 429,5741 978 2107 3085 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.22959592A>G NA hg19 0.02 6.449063 GGGxTCA COVERED NOVEL 0 2 7.522665 KEEP 0 0 0 25 792 AA 0.999931 0.999931 0 8 60 282 0 0 17.740495 176 60 6546 246 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23014062 23014062 __UNKNOWN__ IGR SNP G G C rs1263641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23014062G>C NA NA TRAJ1 (20 upstream) : TRAC (2384 downstream) NA NA NA CCCATGCCCAGAGTTTCCTGA 0.498 NA C||| 3308 0.660543 0.7821 0.5173 5008 , , NA 20578 0.6855 NA 0.6481 False NA ,,, NA NA NA 2504 0.5849 NA NA NA NA 0 C 2944,878 1136,672,103 85 86 85 0.1 0 14 dbSNP_87 85 5538,2718 1853,1832,443 no intergenic 2989,2504,546 CC,CG,GG 32.9215,22.9723,29.7731 23014062 8482,3596 1911 4128 6039 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23014062G>C NA hg19 0.02 1.991462 CCAxAGT COVERED NOVEL 0 0 6.922145 KEEP 0 0 0 23 807 GG 0.999892 0.995579 0 4 60 150 0 0 10.303315 64 60 2443 110 0.058824 0.995687 TRAC 28755 __UNKNOWN__ __UNKNOWN__ 14 23019657 23019657 __UNKNOWN__ RNA SNP C C G rs1263658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23019657C>G ENST00000478163.3 + 0 426 P01848 TCA_HUMAN T cell receptor alpha constant NA NA regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA CGGGTCTCTGCGTGCATCCTA 0.547 NA G||| 2583 0.515775 0.3601 0.5548 5008 , , NA 17866 0.8313 NA 0.3529 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 G 1380,2572 266,848,862 44 46 46 -0.6 0 14 dbSNP_87 46 2782,5570 457,1868,1851 no intergenic 723,2716,2713 GG,GC,CC 33.3094,34.919,33.8264 23019657 4162,8142 1976 4176 6152 X02592 14q11.2 2012-02-07 ENSG00000229164 ENSG00000277734 28755 T cell receptors / TRA locus 12029 other T cell receptor gene 186880 NA 3875483, 8188290 Standard NG_001332 NG_001332 NA Approved P01848 OTTHUMG00000028683 ENST00000478163.3: chr14.hg19:g.23019657C>G NA hg19 0.02 -0.403519 CTGxGTG COVERED NOVEL TRAC-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf TR_C_gene NA TR_C_gene OTTHUMT00000071613.3 0 2.708316 KEEP 0 0 0 9 288 CC 0.99254 0.927521 0 + 3 60 113 0 0 7.916367 43 60 1420 58 ENST00000478163.3 0.065217 0.934492 TRAC 28755 __UNKNOWN__ __UNKNOWN__ 14 23021039 23021039 __UNKNOWN__ RNA SNP G G A rs9125 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23021039G>A ENST00000478163.3 + 0 916 P01848 TCA_HUMAN T cell receptor alpha constant NA NA regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA TATGCTGTGTGTCTGGGCGTG 0.413 NA A||| 2435 0.486222 0.1301 0.5043 5008 , , NA 19519 0.8581 NA 0.4851 False NA ,,, NA NA NA 2504 0.5726 NA NA NA NA 0 A 721,3297 84,553,1372 38 38 38 2.8 0.7 14 dbSNP_52 38 4005,4341 982,2041,1150 no intergenic 1066,2594,2522 AA,AG,GG 47.9871,17.9443,38.2239 23021039 4726,7638 2009 4173 6182 X02592 14q11.2 2012-02-07 ENSG00000229164 ENSG00000277734 28755 T cell receptors / TRA locus 12029 other T cell receptor gene 186880 NA 3875483, 8188290 Standard NG_001332 NG_001332 NA Approved P01848 OTTHUMG00000028683 ENST00000478163.3: chr14.hg19:g.23021039G>A NA hg19 0.02 6.473098 TGTxTCT COVERED NOVEL TRAC-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|exp_conf TR_C_gene NA TR_C_gene OTTHUMT00000071613.3 0 8.427301 KEEP 0 0 0 28 992 GG 0.999997 0.999997 0 + 10 60 355 0 0 23.770476 160 60 6038 252 ENST00000478163.3 0.058824 1 AE000662.92 0 __UNKNOWN__ __UNKNOWN__ 14 23027432 23027432 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23027432C>A ENST00000557595.1 + 4 470 NA NA NA CTGCTTCCGGCTTCCAGAAGG 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000557595.1:c.265-197C>A chr14.hg19:g.23027432C>A NA hg19 0.02 1.185591 CGGxTTC COVERED NOVEL AE000662.92-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000410999.1 2 2.639524 KEEP 0 0 0 9 210 CC 0.99254 0.99246 0 + 24 60 303 1 0 18.648588 71 60 1626 111 ENST00000557595.1 0.252632 0.999919 SLC7A7 9056 __UNKNOWN__ __UNKNOWN__ 14 23248112 23248112 __UNKNOWN__ Silent SNP A A G rs1805061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23248112A>G ENST00000397532.3 - 4 1185 c.660T>C c.(658-660)ggT>ggC p.G220G SLC7A7_ENST00000555702.1_Silent_p.G220G|SLC7A7_ENST00000397529.2_Silent_p.G220G|SLC7A7_ENST00000397528.4_Silent_p.G220G|SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000285850.7_Silent_p.G220G|SLC7A7_ENST00000554061.1_5'UTR Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 220 NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) CAAATGATGAACCCTCAAAGG 0.488 NA A||| 1191 0.237819 0.2874 0.268 5008 , , NA 20311 0.3373 NA 0.1392 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 A ,, 1132,3274 406.2+/-333.8 145,842,1216 106 94 98 660,660,660 -4.1 1 14 dbSNP_89 98 1125,7475 231.7+/-265.6 70,985,3245 no coding-synonymous,coding-synonymous,coding-synonymous SLC7A7 NM_001126105.2,NM_001126106.2,NM_003982.3 ,, 215,1827,4461 GG,GA,AA 13.0814,25.6922,17.3535 ,, 220/512,220/512,220/512 23248112 2257,10749 2203 4300 6503 SO:0001819 synonymous_variant AF092032 CCDS9574.1 14q11.2 2014-09-17 2011-07-12 ENSG00000155465 ENSG00000155465 9056 Solute carriers 11065 protein-coding gene gene with protein product 603593 LPI NA 9829974 Standard NM_001126106 NA Approved y+LAT-1 uc001wgs.4 Q9UM01 OTTHUMG00000028692 ENST00000397532.3:c.660T>C chr14.hg19:g.23248112A>G NA B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5 hg19 CCDS9574.1 0.02 1.91909 TGAxCCC COVERED NOVEL SLC7A7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071636.3 1 4.512815 KEEP 0 0 0 15 471 AA 0.99649 0.996446 0 - 4 60 152 0 0 9.834797 95 60 3381 143 ENST00000397532.3 0.040404 0.999956 SLC7A7 9056 __UNKNOWN__ __UNKNOWN__ 14 23282449 23282449 __UNKNOWN__ Silent SNP C C T rs1805059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23282449C>T ENST00000397532.3 - 2 684 c.159G>A c.(157-159)tcG>tcA p.S53S SLC7A7_ENST00000555702.1_Silent_p.S53S|SLC7A7_ENST00000397529.2_Silent_p.S53S|SLC7A7_ENST00000397528.4_Silent_p.S53S|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.S53S Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 53 NA S -> L (in LPI). {ECO:0000269|PubMed:17764084}. amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) CAAAGATGCCCGAGCCGATCA 0.587 NA C||| 3035 0.60603 0.4947 0.7104 5008 , , NA 17088 0.7857 NA 0.5964 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 C ,, 2126,2280 578.8+/-384.8 501,1124,578 111 108 109 159,159,159 -10.4 0.8 14 dbSNP_89 109 5189,3411 638.6+/-399.4 1537,2115,648 no coding-synonymous,coding-synonymous,coding-synonymous SLC7A7 NM_001126105.2,NM_001126106.2,NM_003982.3 ,, 2038,3239,1226 TT,TC,CC 39.6628,48.2524,43.7567 ,, 53/512,53/512,53/512 23282449 7315,5691 2203 4300 6503 SO:0001819 synonymous_variant AF092032 CCDS9574.1 14q11.2 2014-09-17 2011-07-12 ENSG00000155465 ENSG00000155465 9056 Solute carriers 11065 protein-coding gene gene with protein product 603593 LPI NA 9829974 Standard NM_001126106 NA Approved y+LAT-1 uc001wgs.4 Q9UM01 OTTHUMG00000028692 ENST00000397532.3:c.159G>A chr14.hg19:g.23282449C>T NA B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5 hg19 CCDS9574.1 0.02 8.79728 GCCxGAG COVERED NOVEL SLC7A7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071636.3 3 12.913436 KEEP 0 0 0 43 1382 CC 1 1 0 - 8 60 307 0 0 19.209635 238 60 7898 367 ENST00000397532.3 0.03252 1 SLC7A7 9056 __UNKNOWN__ __UNKNOWN__ 14 23282699 23282699 __UNKNOWN__ Intron SNP A A T rs3829407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23282699A>T ENST00000397532.3 - 2 484 SLC7A7_ENST00000555702.1_Intron|SLC7A7_ENST00000397529.2_Intron|SLC7A7_ENST00000397528.4_Intron|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Intron Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) GCAATTACATAGAACCTCTAC 0.483 NA A||| 3035 0.60603 0.4947 0.7104 5008 , , NA 15606 0.7857 NA 0.5964 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092032 CCDS9574.1 14q11.2 2014-09-17 2011-07-12 ENSG00000155465 ENSG00000155465 9056 Solute carriers 11065 protein-coding gene gene with protein product 603593 LPI NA 9829974 Standard NM_001126106 NA Approved y+LAT-1 uc001wgs.4 Q9UM01 OTTHUMG00000028692 ENST00000397532.3:c.42-50T>A chr14.hg19:g.23282699A>T NA B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5 hg19 CCDS9574.1 0.02 9.919762 CATxGAA COVERED NOVEL SLC7A7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071636.3 1 10.530361 KEEP 0 0 0 35 1058 AA 0.999999 0.999999 0 - 8 60 309 0 0 19.797658 212 60 7397 336 ENST00000397532.3 0.036364 1 SLC7A7 9056 __UNKNOWN__ __UNKNOWN__ 14 23282750 23282750 __UNKNOWN__ Intron SNP A A C rs7157654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23282750A>C ENST00000397532.3 - 2 484 SLC7A7_ENST00000555702.1_Intron|SLC7A7_ENST00000397529.2_Intron|SLC7A7_ENST00000397528.4_Intron|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Intron Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) TCACCAACCAATGCGGAGACC 0.398 NA C||| 3037 0.60643 0.4962 0.7104 5008 , , NA 19182 0.7857 NA 0.5964 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF092032 CCDS9574.1 14q11.2 2014-09-17 2011-07-12 ENSG00000155465 ENSG00000155465 9056 Solute carriers 11065 protein-coding gene gene with protein product 603593 LPI NA 9829974 Standard NM_001126106 NA Approved y+LAT-1 uc001wgs.4 Q9UM01 OTTHUMG00000028692 ENST00000397532.3:c.42-101T>G chr14.hg19:g.23282750A>C NA B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5 hg19 CCDS9574.1 0.02 4.247846 CCAxTGC COVERED NOVEL SLC7A7-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071636.3 1 3.609333 KEEP 0 0 0 12 351 AA 0.993634 0.993634 0 - 7 60 262 0 0 17.475582 133 60 4846 159 ENST00000397532.3 0.05 1 MMP14 4323 __UNKNOWN__ __UNKNOWN__ 14 23312863 23312863 __UNKNOWN__ Intron SNP C C G rs2236304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23312863C>G ENST00000311852.6 + 6 1111 MMP14_ENST00000548162.1_Intron NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) NA NA angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638) extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) Marimastat(DB00786) ATCTGTCTGTCCTTCCGTCCC 0.577 NA C||| 1447 0.288938 0.0855 0.3977 5008 , , NA 17356 0.4881 NA 0.3171 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9577.1 14q11-q12 2011-06-29 2005-08-08 ENSG00000157227 ENSG00000157227 4323 7160 protein-coding gene gene with protein product membrane type 1 metalloprotease 600754 matrix metalloproteinase 14 (membrane-inserted) NA 8015608 Standard NM_004995 NM_004995 NA Approved MT1-MMP uc001whc.3 P50281 OTTHUMG00000028704 ENST00000311852.6:c.851-56C>G chr14.hg19:g.23312863C>G NA A8K5L0|Q6GSF3|Q92678 hg19 CCDS9577.1 0.02 2.464718 TGTxCTT COVERED NOVEL MMP14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071660.3 0 3.008572 KEEP 0 0 0 10 318 CC 0.992708 0.989891 0 + 6 60 221 0 0 16.89467 46 60 1680 86 ENST00000311852.6 0.115385 0.997163 RBM23 55147 __UNKNOWN__ __UNKNOWN__ 14 23380613 23380613 __UNKNOWN__ Splice_Site SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23380613C>G ENST00000359890.3 - 2 186 c.e2-1 RBM23_ENST00000346528.5_Splice_Site|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron|RBM23_ENST00000556984.1_Splice_Site NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 NA NA mRNA processing (GO:0006397) membrane (GO:0016020)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) CCTGTCAGATCTGGGGAGAGG 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 140 128 132 NA NA 14 NA 23380613 1860 4100 5960 SO:0001630 splice_region_variant AF275678 CCDS41919.1, CCDS41920.1, CCDS41921.1 14q11.1 2014-07-03 2004-04-23 2004-04-23 ENSG00000100461 55147 RNA binding motif (RRM) containing 20155 protein-coding gene gene with protein product coactivator of activating protein-1 and estrogen recep- tors beta RNA-binding region (RNP1, RRM) containing 4 RNPC4 NA 15694343 Standard NM_018107 NA Approved FLJ10482, CAPERbeta uc001whg.3 Q86U06 ENST00000359890.3:c.10-1G>C chr14.hg19:g.23380613C>G NA D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7 hg19 CCDS41921.1 0.02 20.217935 GATxTGG COVERED NOVEL RBM23-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000413545.3 3 30.096248 KEEP 0 0 0 100 3525 CC 1 1 0 Intron - 13 60 489 0 0 29.093353 474 60 18035 701 ENST00000359890.3 0.026694 1 ACIN1 22985 __UNKNOWN__ __UNKNOWN__ 14 23562825 23562825 __UNKNOWN__ Intron SNP A A C rs2273397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23562825A>C ENST00000262710.1 - 2 640 ACIN1_ENST00000605057.1_Intron|ACIN1_ENST00000555053.1_Intron|ACIN1_ENST00000457657.1_Intron NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 NA NA apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380) ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CCTCTACCACAACCTCTAAAT 0.353 NA A||| 81 0.0161741 0.0045 0.0 5008 , , NA 20530 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014570 CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1 14q11.2 2008-11-25 2004-03-31 2004-04-01 ENSG00000100813 ENSG00000100813 22985 17066 protein-coding gene gene with protein product functional spliceosome-associated protein 152 604562 apoptotic chromatin condensation inducer in the nucleus ACINUS NA 9734811, 10490026 Standard NM_014977 NM_014977 NA Approved KIAA0670, fSAP152 uc001wit.4 Q9UKV3 OTTHUMG00000028716 ENST00000262710.1:c.313-72T>G chr14.hg19:g.23562825A>C NA B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2 hg19 CCDS9587.1 0.02 1.921238 CACxACC COVERED NOVEL ACIN1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000071707.3 0 5.41386 KEEP 0 0 0 18 509 AA 0.999859 0.998555 0 - 6 60 207 0 0 14.453304 70 60 2500 99 ENST00000262710.1 0.078947 0.998696 C14orf119 55017 __UNKNOWN__ __UNKNOWN__ 14 23568597 23568597 __UNKNOWN__ 3'UTR SNP G G T rs58831255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23568597G>T ENST00000319074.4 + 0 2586 NM_017924.3 NP_060394.1 Q9NWQ9 CN119_HUMAN chromosome 14 open reading frame 119 NA NA mitochondrion (GO:0005739) central_nervous_system(1)|endometrium(1)|lung(1) 3 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00649) CTGGTAGGCTGTGGTTCCCAT 0.517 NA G||| 89 0.0177716 0.0045 0.0 5008 , , NA 17240 0.0685 NA 0.0 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9588.1 14q11.2 2012-09-25 ENSG00000179933 ENSG00000179933 55017 20270 protein-coding gene gene with protein product NA Standard NM_017924 NM_017924 NA Approved FLJ20671 uc001wiu.3 Q9NWQ9 OTTHUMG00000028717 ENST00000319074.4:c.*1307G>T chr14.hg19:g.23568597G>T NA Q6IAA7 hg19 CCDS9588.1 0.02 7.938499 GCTxTGG COVERED NOVEL C14orf119-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071713.3 0 14.744515 KEEP 0 0 0 49 1685 GG 1 1 0 + 7 60 256 0 0 15.205972 233 60 8762 328 ENST00000319074.4 0.029167 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23571771 23571771 __UNKNOWN__ IGR SNP C C G rs2236136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23571771C>G NA NA C14orf119 (2106 upstream) : CEBPE (14741 downstream) NA NA NA GAAGGAAGGACGTTATGAGAT 0.438 NA G||| 689 0.13758 0.2572 0.0648 5008 , , NA 21651 0.2103 NA 0.0497 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23571771C>G NA hg19 0.02 11.298323 GGAxGTT COVERED NOVEL 0 0 10.833044 KEEP 0 0 0 36 1187 CC 0.999999 0.999999 0 8 60 301 0 0 18.318135 259 60 8848 344 0.029963 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 23572899 23572899 __UNKNOWN__ IGR SNP G G A rs74716137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23572899G>A NA NA C14orf119 (3234 upstream) : CEBPE (13613 downstream) NA NA NA GGTGGCACTTGGAAGTGTGAG 0.502 NA G||| 47 0.00938498 0.0 0.0 5008 , , NA 19564 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.23572899G>A NA hg19 0.02 16.141416 CTTxGAA COVERED NOVEL 0 3 22.873966 KEEP 0 0 0 76 2675 GG 1 1 0 10 60 386 0 0 23.378065 363 60 13955 558 0.02681 1 CEBPE 1053 __UNKNOWN__ __UNKNOWN__ 14 23588642 23588642 __UNKNOWN__ 5'UTR SNP G G A rs12434881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23588642G>A ENST00000206513.5 - 0 183 NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon NA NA cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CAGCAGTTGGGGACACTCCTT 0.607 NA G||| 1618 0.323083 0.1619 0.4236 5008 , , NA 15776 0.2728 NA 0.4622 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NSCLC(63;1230 1818 14565 22565) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS9589.1 14q11.2 2014-09-17 ENSG00000092067 ENSG00000092067 1053 basic leucine zipper proteins 1836 protein-coding gene gene with protein product 600749 NA 8661101 Standard NM_001805 NM_001805 NA Approved CRP1 uc001wiv.2 Q15744 OTTHUMG00000028719 ENST00000206513.5:c.-342C>T chr14.hg19:g.23588642G>A NA Q15745|Q8IYI2|Q99803 hg19 CCDS9589.1 0.02 6.616154 TGGxGAC COVERED NOVEL CEBPE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071716.2 0 6.154738 KEEP 0 1 30 31 1103 GG 0.999997 0.999997 0 - 8 60 294 0 0 19.318376 157 60 5630 243 ENST00000206513.5 0.048485 1 SLC7A8 23428 __UNKNOWN__ __UNKNOWN__ 14 23595118 23595118 __UNKNOWN__ 3'UTR SNP C C G rs117878694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23595118C>G ENST00000469263.1 - 0 2949 SLC7A8_ENST00000316902.7_3'UTR Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534) autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TTTTGAGGATCTCCAGAGTGG 0.587 NA C||| 98 0.0195687 0.0083 0.0029 5008 , , NA 15305 0.0843 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18483 CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1 14q11.2 2013-05-22 2011-07-12 ENSG00000092068 ENSG00000092068 23428 Solute carriers 11066 protein-coding gene gene with protein product 604235 NA 10080183, 10391915 Standard NM_001267036 NA Approved LPI-PC1, LAT2 uc001wiz.4 Q9UHI5 OTTHUMG00000028720 ENST00000469263.1:c.*1353G>C chr14.hg19:g.23595118C>G NA B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445 hg19 0.02 4.308801 GATxTCC COVERED NOVEL SLC7A8-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000071720.3 2 15.349706 KEEP 0 0 0 51 1803 CC 1 1 0 - 5 60 191 0 0 12.234348 128 60 4673 223 ENST00000469263.1 0.037594 1 SLC7A8 23428 __UNKNOWN__ __UNKNOWN__ 14 23595721 23595721 __UNKNOWN__ 3'UTR SNP A A G rs2236135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23595721A>G ENST00000469263.1 - 0 2346 SLC7A8_ENST00000316902.7_3'UTR Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534) autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) TGCAATCTGAACCTTTCTCAA 0.537 NA G||| 1206 0.240815 0.323 0.0951 5008 , , NA 16023 0.4494 NA 0.1272 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18483 CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1 14q11.2 2013-05-22 2011-07-12 ENSG00000092068 ENSG00000092068 23428 Solute carriers 11066 protein-coding gene gene with protein product 604235 NA 10080183, 10391915 Standard NM_001267036 NA Approved LPI-PC1, LAT2 uc001wiz.4 Q9UHI5 OTTHUMG00000028720 ENST00000469263.1:c.*750T>C chr14.hg19:g.23595721A>G NA B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445 hg19 0.02 7.078004 TGAxCCT COVERED NOVEL SLC7A8-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000071720.3 1 21.961402 KEEP 0 0 0 73 2209 AA 1 1 0 - 14 60 512 0 0 36.113687 178 60 6183 324 ENST00000469263.1 0.072917 1 SLC7A8 23428 __UNKNOWN__ __UNKNOWN__ 14 23596621 23596621 __UNKNOWN__ Intron SNP G G A rs2180395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23596621G>A ENST00000469263.1 - 6 1515 SLC7A8_ENST00000529705.2_Intron|SLC7A8_ENST00000316902.7_Intron|SLC7A8_ENST00000453702.1_Intron|SLC7A8_ENST00000422941.2_Intron Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534) autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) AAGTGGCCCCGGCCCTTCCTG 0.587 NA G||| 767 0.153155 0.0772 0.0778 5008 , , NA 18893 0.3502 NA 0.1282 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y18483 CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1 14q11.2 2013-05-22 2011-07-12 ENSG00000092068 ENSG00000092068 23428 Solute carriers 11066 protein-coding gene gene with protein product 604235 NA 10080183, 10391915 Standard NM_001267036 NA Approved LPI-PC1, LAT2 uc001wiz.4 Q9UHI5 OTTHUMG00000028720 ENST00000469263.1:c.789-69C>T chr14.hg19:g.23596621G>A NA B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445 hg19 0.02 11.006317 CCCxGCC COVERED NOVEL SLC7A8-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000071720.3 2 18.958265 KEEP 0 0 0 63 2148 GG 1 1 0 - 11 60 385 0 0 23.986906 255 60 9050 385 ENST00000469263.1 0.041353 1 HOMEZ 57594 __UNKNOWN__ __UNKNOWN__ 14 23745533 23745533 __UNKNOWN__ Missense_Mutation SNP C C T rs10131813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23745533C>T ENST00000357460.5 - 2 1068 c.904G>A c.(904-906)Gcc>Acc p.A302T HOMEZ_ENST00000561013.1_Missense_Mutation_p.A304T|HOMEZ_ENST00000431326.2_Missense_Mutation_p.A304T NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 302 NA A -> T (in Ref. 5; AAI30393). {ECO:0000305}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677) p.A302T(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GGTTTAGAGGCGGCAGTAGCT 0.537 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) C THR/ALA 1556,2546 291,974,786 40 45 43 904 -2.6 1 14 dbSNP_119 43 3585,4767 752,2081,1343 yes missense HOMEZ NM_020834.2 58 1043,3055,2129 TT,TC,CC 42.9239,37.9327,41.2799 benign 302/551 23745533 5141,7313 2051 4176 6227 SO:0001583 missense AB037864 CCDS45085.1 14q11.2 2011-06-20 2007-02-15 2007-02-15 ENSG00000215271 57594 Homeoboxes / ZF class 20164 protein-coding gene gene with protein product 608119 KIAA1443 KIAA1443 NA 12925734 Standard NM_020834 NM_020834 NA Approved uc001wja.2 Q8IX15 ENST00000357460.5:c.904G>A chr14.hg19:g.23745533C>T ENSP00000350049:p.Ala302Thr NA A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5 hg19 CCDS45085.1 0.02 7.839457 AGGxGGC COVERED 756 0.34615384615384615 192 0.3902439024390244 105 0.2900552486187845 174 0.3041958041958042 285 0.3759894459102902 C 0.005 -2.212362 0.00289 0.379327 0.429239 ENSG00000215271 ENST00000357460;ENST00000431326 T;T 0.20738 2.05;2.05 6.04 -2.58 0.06228 . 0.255590 0.39687 N 0.001291 T 0.00012 0.0000 N 0.01576 -0.805 0.48632 P 3.1400000000003647E-4 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.37454 -0.9705 9 0.02654 T 1 -8.6359 6.3652 0.21451 0.1417:0.4002:0.0:0.4581 rs10131813;rs17846379;rs17859416;rs52832578;rs59669643;rs10131813 304;302 F8WCA3;Q8IX15 .;HOMEZ_HUMAN T 302;304 ENSP00000350049:A302T;ENSP00000406579:A304T ENSP00000350049:A302T A - 1 0 HOMEZ 22815373 0.961000 0.32948 0.955000 0.39395 0.034000 0.12701 0.194000 0.17135 -0.248000 0.09583 -1.155000 0.01812 GCC NOVEL HOMEZ-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000416939.2 3 9.024287 KEEP 0 0 0 30 971 CC 0.999997 0.999997 0 - 11 60 375 0 0 23.35087 230 60 7423 318 ENST00000357460.5 0.045643 1 PPP1R3E 90673 __UNKNOWN__ __UNKNOWN__ 14 23771734 23771734 __UNKNOWN__ Missense_Mutation SNP T T C rs75158392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23771734T>C ENST00000452015.4 - 1 323 c.52A>G c.(52-54)Atc>Gtc p.I18V NM_001276318.1 NP_001263247.1 Q9H7J1 PPR3E_HUMAN protein phosphatase 1, regulatory subunit 3E 18 NA glycogen metabolic process (GO:0005977) NA AGCGCGGCGATGAAGCTCAGG 0.751 NA T||| 62 0.0123802 0.0 0.0 5008 , , NA 12772 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK024489 CCDS61403.1 14q11.2 2013-01-29 2011-10-04 ENSG00000235194 ENSG00000235194 90673 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 14943 protein-coding gene gene with protein product protein phosphatase 1, regulatory (inhibitor) subunit 3E NA 11948623, 15752363 Standard NM_001276318 NA Approved FLJ00089 uc031qns.1 Q9H7J1 OTTHUMG00000172116 ENST00000452015.4:c.52A>G chr14.hg19:g.23771734T>C ENSP00000408288:p.Ile18Val NA D3DS47 hg19 0.02 5.991214 CGAxGAA COVERED 21 0.009615384615384616 2 0.0040650406504065045 0 0.0 19 0.033216783216783216 0 0.0 T 17.31 3.357861 0.61403 . . ENSG00000235194 ENST00000452015 T 0.55588 0.51 5.09 5.09 0.68999 . . . . . T 0.23289 0.0563 . . . 0.80722 D 1 . . . . . . T 0.12218 -1.0556 6 0.11485 T 0.65 . 13.9858 0.64334 0.0:0.0:0.0:1.0 . . . . V 18 ENSP00000408288:I18V ENSP00000408288:I18V I - 1 0 PPP1R3E 22841574 1.000000 0.71417 0.998000 0.56505 0.453000 0.32348 3.152000 0.50677 2.139000 0.66308 0.379000 0.24179 ATC NOVEL PPP1R3E-001 KNOWN NMD_exception|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000416883.2 2 38.142879 KEEP 0 0 0 127 3833 TT 1 1 0 - 8 60 259 0 0 15.769869 160 60 5794 384 ENST00000452015.4 0.047619 1 BCL2L2 599 __UNKNOWN__ __UNKNOWN__ 14 23777099 23777099 __UNKNOWN__ Silent SNP G G A rs2231301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23777099G>A ENST00000250405.5 + 3 352 c.123G>A c.(121-123)ccG>ccA p.P41P BCL2L2-PABPN1_ENST00000553781.1_Silent_p.P41P|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.P41P NM_001199839.1|NM_004050.4 NP_001186768.1|NP_004041 Q92843 B2CL2_HUMAN BCL2-like 2 41 NA extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|lung(4)|prostate(1) 6 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00654) CAGCTGACCCGCTGCACCAAG 0.627 NA G||| 1247 0.249002 0.0454 0.3069 5008 , , NA 16556 0.4752 NA 0.2336 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 G ,, 348,4058 172.7+/-202.6 11,326,1866 35 38 37 123,123,123 -3.6 0.9 14 dbSNP_98 37 1976,6622 327.2+/-317.7 239,1498,2562 no coding-synonymous,coding-synonymous,coding-synonymous BCL2L2,BCL2L2-PABPN1 NM_001199839.1,NM_001199864.1,NM_004050.4 ,, 250,1824,4428 AA,AG,GG 22.9821,7.8983,17.8714 ,, 41/194,41/334,41/194 23777099 2324,10680 2203 4299 6502 SO:0001819 synonymous_variant D87461 CCDS9591.1 14q11.2-q12 2014-03-07 ENSG00000129473 ENSG00000129473 599 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 995 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 51 601931 NA 8761287 Standard NM_004050 NM_001199839 NA Approved KIAA0271, BCL-W, PPP1R51 Q92843 OTTHUMG00000028738 ENST00000250405.5:c.123G>A chr14.hg19:g.23777099G>A NA A8K0F4|Q2M3U0|Q5U0H4 hg19 CCDS9591.1 0.02 14.224677 CCCxCTG COVERED NOVEL BCL2L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071763.3 2 65.267719 KEEP 0 0 0 217 7420 GG 1 1 0 + 12 60 385 0 0 21.2967 363 60 12713 745 ENST00000250405.5 0.032 1 EFS 10278 __UNKNOWN__ __UNKNOWN__ 14 23826792 23826792 __UNKNOWN__ Silent SNP G G A rs2231811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23826792G>A ENST00000216733.3 - 6 1936 c.1329C>T c.(1327-1329)tgC>tgT p.C443C EFS_ENST00000351354.3_Silent_p.C350C|EFS_ENST00000429593.2_Silent_p.C274C NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 443 Divergent helix-loop-helix motif. NA cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737) protein domain specific binding (GO:0019904) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGTGGCTCTGGCATTGCCCAG 0.627 NA G||| 409 0.0816693 0.0862 0.0231 5008 , , NA 17185 0.1012 NA 0.0318 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 G , 341,4065 171.9+/-202.1 13,315,1875 36 41 39 1329,1050 4.8 1 14 dbSNP_98 39 303,8297 105.8+/-166.7 5,293,4002 no coding-synonymous,coding-synonymous EFS NM_005864.2,NM_032459.1 , 18,608,5877 AA,AG,GG 3.5233,7.7394,4.9516 , 443/562,350/469 23826792 644,12362 2203 4300 6503 SO:0001819 synonymous_variant AB001466 CCDS9595.1, CCDS9596.1, CCDS61404.1 14q11.2-q12 2011-04-13 ENSG00000100842 ENSG00000100842 10278 Cas scaffolding proteins 16898 protein-coding gene gene with protein product Cas scaffolding protein family member 3 609906 NA 9349509 Standard NM_005864 NA Approved EFS2, EFS1, HEFS, SIN, CASS3 uc001wjo.4 O43281 OTTHUMG00000028741 ENST00000216733.3:c.1329C>T chr14.hg19:g.23826792G>A NA B2RAJ7|B4DJ56|E9PGU2|O43282 hg19 CCDS9595.1 0.02 1.748695 CTGxCAT COVERED NOVEL EFS-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071770.2 0 6.319958 KEEP 0 0 0 21 726 GG 0.999869 0.997767 0 - 4 60 137 0 0 8.879716 69 60 2585 110 ENST00000216733.3 0.054795 0.997898 EFS 10278 __UNKNOWN__ __UNKNOWN__ 14 23830042 23830042 __UNKNOWN__ Splice_Site SNP T T C rs2231798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23830042T>C ENST00000216733.3 - 2 626 c.19A>G c.(19-21)Acc>Gcc p.T7A EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 7 SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}. NA T -> A (in dbSNP:rs2231798). cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737) protein domain specific binding (GO:0019904) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCCAGCTGGGTCTGGTTGGGG 0.637 NA C||| 2282 0.455671 0.8759 0.2478 5008 , , NA 16776 0.3046 NA 0.2763 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 C ALA/THR, 3380,1010 1320,740,135 15 18 17 19, 5 1 14 dbSNP_98 17 2555,6017 413,1729,2144 yes missense-near-splice,intron EFS NM_005864.2,NM_032459.1 58, 1733,2469,2279 CC,CT,TT 29.8063,23.0068,45.7877 benign, 7/562, 23830042 5935,7027 2195 4286 6481 SO:0001630 splice_region_variant AB001466 CCDS9595.1, CCDS9596.1, CCDS61404.1 14q11.2-q12 2011-04-13 ENSG00000100842 ENSG00000100842 10278 Cas scaffolding proteins 16898 protein-coding gene gene with protein product Cas scaffolding protein family member 3 609906 NA 9349509 Standard NM_005864 NA Approved EFS2, EFS1, HEFS, SIN, CASS3 uc001wjo.4 O43281 OTTHUMG00000028741 ENST00000216733.3:c.19-1A>G chr14.hg19:g.23830042T>C NA B2RAJ7|B4DJ56|E9PGU2|O43282 hg19 CCDS9595.1 0.02 2.153934 GGGxCTG COVERED 930 0.4258241758241758 426 0.8658536585365854 111 0.30662983425414364 186 0.32517482517482516 207 0.27308707124010556 C 5.796 0.331223 0.10956 0.769932 0.298063 ENSG00000100842 ENST00000216733 T 0.55760 0.5 4.99 4.99 0.66335 Src homology-3 domain (2); 0.124031 0.53938 N 0.000051 T 0.00012 0.0000 N 0.21545 0.675 0.09310 P 1.0 B 0.02656 0.0 B 0.01281 0.0 T 0.27331 -1.0077 9 0.11794 T 0.64 -12.5983 11.7333 0.51750 0.0:0.9141:0.0:0.0859 rs2231798;rs57406640;rs2231798 7 O43281 EFS_HUMAN A 7 ENSP00000216733:T7A ENSP00000216733:T7A T - 1 0 EFS 22899882 1.000000 0.71417 1.000000 0.80357 0.902000 0.53008 1.376000 0.34306 1.496000 0.48567 -0.213000 0.12676 ACC NOVEL EFS-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071770.2 0 13.237906 KEEP 0 0 0 44 1392 TT 1 0.999919 0 Missense_Mutation - 5 60 178 0 0 11.683494 90 60 3194 179 ENST00000216733.3 0.052632 0.999919 EFS 10278 __UNKNOWN__ __UNKNOWN__ 14 23830048 23830048 __UNKNOWN__ Intron SNP T T G rs2231797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23830048T>G ENST00000216733.3 - 2 626 EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate NA NA cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) cytoplasm (GO:0005737) protein domain specific binding (GO:0019904) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) TGGGTCTGGTTGGGGAGGTGG 0.607 NA G||| 2282 0.455671 0.8759 0.2478 5008 , , NA 16841 0.3046 NA 0.2763 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 G , 3329,1063 1296,737,163 14 17 16 , 4.3 1 14 dbSNP_98 16 2482,6080 400,1682,2199 no intron,intron EFS NM_005864.2,NM_032459.1 , 1696,2419,2362 GG,GT,TT 28.9886,24.2031,44.8587 , , 23830048 5811,7143 2196 4281 6477 SO:0001627 intron_variant AB001466 CCDS9595.1, CCDS9596.1, CCDS61404.1 14q11.2-q12 2011-04-13 ENSG00000100842 ENSG00000100842 10278 Cas scaffolding proteins 16898 protein-coding gene gene with protein product Cas scaffolding protein family member 3 609906 NA 9349509 Standard NM_005864 NA Approved EFS2, EFS1, HEFS, SIN, CASS3 uc001wjo.4 O43281 OTTHUMG00000028741 ENST00000216733.3:c.19-6A>C chr14.hg19:g.23830048T>G NA B2RAJ7|B4DJ56|E9PGU2|O43282 hg19 CCDS9595.1 0.02 2.224095 GGTxGGG COVERED NOVEL EFS-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071770.2 0 12.638028 KEEP 0 0 0 42 1306 TT 1 0.999726 0 - 5 60 177 0 0 11.786294 82 60 3028 163 ENST00000216733.3 0.057471 0.999726 IL25 64806 __UNKNOWN__ __UNKNOWN__ 14 23842017 23842017 __UNKNOWN__ 5'Flank SNP C C T rs7145531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23842017C>T ENST00000397242.2 + 0 0 NM_172314.1 NP_758525.1 Q9H293 IL25_HUMAN interleukin 25 NA NA eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624) extracellular space (GO:0005615) interleukin-17E receptor binding (GO:0030380) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TGTTTTTTAACCTCAAGTCAC 0.363 NA T||| 1878 0.375 0.6687 0.2349 5008 , , NA 21014 0.2728 NA 0.2644 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001631 upstream_gene_variant AF305200 CCDS9597.1, CCDS45086.1 14q11.2 2008-01-07 2006-05-17 2006-05-17 ENSG00000166090 ENSG00000166090 64806 Interleukins and interleukin receptors 13765 protein-coding gene gene with protein product 605658 interleukin 17E IL17E NA 11058597, 11754819 Standard NM_172314 NA Approved IL-25, IL-17E uc001wjq.3 Q9H293 OTTHUMG00000028749 ENST00000397242.2: chr14.hg19:g.23842017C>T Exception_encountered NA Q2M3F0|Q8IZV3|Q8WXB0 hg19 CCDS45086.1 0.02 8.246668 TAAxCTC COVERED NOVEL IL25-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000413775.1 1 15.651229 KEEP 0 0 0 52 1859 CC 1 1 0 + 11 60 395 0 0 25.376645 229 60 8486 350 ENST00000397242.2 0.045833 1 IL25 64806 __UNKNOWN__ __UNKNOWN__ 14 23842040 23842040 __UNKNOWN__ 5'UTR SNP C C T rs7145551 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23842040C>T ENST00000397242.2 + 0 23 NM_172314.1 NP_758525.1 Q9H293 IL25_HUMAN interleukin 25 NA NA eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624) extracellular space (GO:0005615) interleukin-17E receptor binding (GO:0030380) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) CCTAAAAAGACAGTGGAAATA 0.383 NA T||| 2154 0.430112 0.8699 0.245 5008 , , NA 20757 0.2728 NA 0.2664 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF305200 CCDS9597.1, CCDS45086.1 14q11.2 2008-01-07 2006-05-17 2006-05-17 ENSG00000166090 ENSG00000166090 64806 Interleukins and interleukin receptors 13765 protein-coding gene gene with protein product 605658 interleukin 17E IL17E NA 11058597, 11754819 Standard NM_172314 NA Approved IL-25, IL-17E uc001wjq.3 Q9H293 OTTHUMG00000028749 ENST00000397242.2:c.-136C>T chr14.hg19:g.23842040C>T NA Q2M3F0|Q8IZV3|Q8WXB0 hg19 CCDS45086.1 0.02 13.419478 AGAxAGT COVERED NOVEL IL25-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000413775.1 3 21.067123 KEEP 0 0 0 70 2489 CC 1 1 0 + 12 60 455 0 0 29.009207 308 60 11583 479 ENST00000397242.2 0.0375 1 MYH7 4625 __UNKNOWN__ __UNKNOWN__ 14 23902753 23902753 __UNKNOWN__ Silent SNP G G A rs2069540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23902753G>A ENST00000355349.3 - 3 351 c.189C>T c.(187-189)acC>acT p.T63T NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 63 NA adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGCCATACTCGGTCTCGGCAG 0.562 NA G||| 2606 0.520367 0.6392 0.4063 5008 , , NA 22211 0.4137 NA 0.4851 False NA ,,, NA NA NA 2504 0.5869 NA NA NA NA 0 G 2698,1708 651.7+/-399.3 821,1056,326 124 96 106 189 -8.4 0.2 14 dbSNP_96 106 4163,4437 567.2+/-388.8 984,2195,1121 no coding-synonymous MYH7 NM_000257.2 1805,3251,1447 AA,AG,GG 48.407,38.7653,47.2474 63/1936 23902753 6861,6145 2203 4300 6503 SO:0001819 synonymous_variant M58018 CCDS9601.1 14q11.2-q13 2014-09-17 2006-09-29 ENSG00000092054 ENSG00000092054 4625 Myosins / Myosin superfamily : Class II 7577 protein-coding gene gene with protein product 160760 myopathy, distal 1, myosin, heavy polypeptide 7, cardiac muscle, beta CMH1, MPD1 NA 2494889, 8483915, 15322983 Standard NM_000257 XM_005267696 NA Approved CMD1S uc001wjx.3 P12883 OTTHUMG00000028755 ENST00000355349.3:c.189C>T chr14.hg19:g.23902753G>A NA A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8 hg19 CCDS9601.1 0.02 2.215543 CTCxGTC COVERED NOVEL MYH7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071798.3 0 4.815395 KEEP 0 0 0 16 540 GG 0.997832 0.9976 0 - 5 60 198 0 0 13.851536 83 60 2677 113 ENST00000355349.3 0.056818 0.999768 ZFHX2 85446 __UNKNOWN__ __UNKNOWN__ 14 23992296 23992296 __UNKNOWN__ Intron SNP T T C rs223123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23992296T>C ENST00000419474.3 - 9 7095 RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA NM_033400.2 NP_207646.2 Q9C0A1 ZFHX2_HUMAN zinc finger homeobox 2 NA NA adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 5 AAGAGCCTGATGCAAAGGAAG 0.557 NA C||| 890 0.177716 0.0401 0.3401 5008 , , NA 19964 0.2421 NA 0.2207 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051549 CCDS55907.1 14q11.2 2012-03-09 ENSG00000136367 ENSG00000136367 85446 Zinc fingers, C2H2-type, Homeoboxes / ZF class 20152 protein-coding gene gene with protein product zinc finger protein 409 ZNF409 NA 11214970, 10470851 Standard NM_014894 NM_033400 NA Approved KIAA1762, KIAA1056, ZFH-5 uc010tno.2 Q9C0A1 OTTHUMG00000156894 ENST00000419474.3:c.6739+115A>G chr14.hg19:g.23992296T>C NA Q9UPU6 hg19 CCDS55907.1 0.02 6.726136 TGAxGCA COVERED NOVEL ZFHX2-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346484.3 2 10.831286 KEEP 0 0 0 36 1117 TT 1 1 0 - 9 60 296 0 0 17.194881 234 60 8486 325 ENST00000419474.3 0.037037 1 ZFHX2 85446 __UNKNOWN__ __UNKNOWN__ 14 23994517 23994517 __UNKNOWN__ Missense_Mutation SNP A A G rs4982766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23994517A>G ENST00000419474.3 - 9 4989 c.4634T>C c.(4633-4635)gTt>gCt p.V1545A RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA NM_033400.2 NP_207646.2 Q9C0A1 ZFHX2_HUMAN zinc finger homeobox 2 1545 NA adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 5 CAGATGGGGAACAGGTGAATC 0.607 NA G||| 1922 0.383786 0.7814 0.4035 5008 , , NA 14475 0.251 NA 0.2127 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AB051549 CCDS55907.1 14q11.2 2012-03-09 ENSG00000136367 ENSG00000136367 85446 Zinc fingers, C2H2-type, Homeoboxes / ZF class 20152 protein-coding gene gene with protein product zinc finger protein 409 ZNF409 NA 11214970, 10470851 Standard NM_014894 NM_033400 NA Approved KIAA1762, KIAA1056, ZFH-5 uc010tno.2 Q9C0A1 OTTHUMG00000156894 ENST00000419474.3:c.4634T>C chr14.hg19:g.23994517A>G ENSP00000413418:p.Val1545Ala NA Q9UPU6 hg19 CCDS55907.1 0.02 19.304929 GGAxCAG COVERED 789 0.36126373626373626 383 0.7784552845528455 126 0.34806629834254144 125 0.21853146853146854 155 0.20448548812664907 G 0.014 -1.582598 0.00879 . . ENSG00000136367 ENST00000419474 T 0.78126 -1.15 3.77 1.85 0.25348 . 0.000000 0.33691 N 0.004644 T 0.00012 0.0000 N 0.00538 -1.39 0.51012 P 9.599999999998499E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.41945 -0.9480 9 0.02654 T 1 . 4.321 0.11016 0.284:0.0:0.5595:0.1564 rs4982766;rs52810516;rs58594776;rs4982766 1545 Q9C0A1 ZFHX2_HUMAN A 1545 ENSP00000413418:V1545A ENSP00000413418:V1545A V - 2 0 ZFHX2 23064357 0.146000 0.22672 0.986000 0.45419 0.426000 0.31534 1.315000 0.33608 0.280000 0.22209 -0.374000 0.07098 GTT NOVEL ZFHX2-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346484.3 3 16.249055 KEEP 0 0 0 54 1690 AA 1 1 0 - 16 60 625 0 0 40.794751 394 60 13873 570 ENST00000419474.3 0.039024 1 ZFHX2 85446 __UNKNOWN__ __UNKNOWN__ 14 23996772 23996772 __UNKNOWN__ Intron SNP A A G rs8016202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23996772A>G ENST00000419474.3 - 7 3491 RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA NM_033400.2 NP_207646.2 Q9C0A1 ZFHX2_HUMAN zinc finger homeobox 2 NA NA adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 5 CACAGCCCTAATAAGGTCTTG 0.577 NA A||| 1352 0.269968 0.4145 0.3372 5008 , , NA 20035 0.2312 NA 0.1789 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051549 CCDS55907.1 14q11.2 2012-03-09 ENSG00000136367 ENSG00000136367 85446 Zinc fingers, C2H2-type, Homeoboxes / ZF class 20152 protein-coding gene gene with protein product zinc finger protein 409 ZNF409 NA 11214970, 10470851 Standard NM_014894 NM_033400 NA Approved KIAA1762, KIAA1056, ZFH-5 uc010tno.2 Q9C0A1 OTTHUMG00000156894 ENST00000419474.3:c.3135+40T>C chr14.hg19:g.23996772A>G NA Q9UPU6 hg19 CCDS55907.1 0.02 24.211883 CTAxTAA COVERED NOVEL ZFHX2-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346484.3 1 18.655557 KEEP 0 0 0 62 1967 AA 1 1 0 - 15 60 565 0 0 33.234596 583 60 20883 769 ENST00000419474.3 0.025084 1 ZFHX2 85446 __UNKNOWN__ __UNKNOWN__ 14 23998013 23998013 __UNKNOWN__ Intron SNP G G A rs3825581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:23998013G>A ENST00000419474.3 - 6 3290 RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA NM_033400.2 NP_207646.2 Q9C0A1 ZFHX2_HUMAN zinc finger homeobox 2 NA NA adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 5 ACTTCCAGAGGGGTGAGGCTG 0.592 NA G||| 1099 0.219449 0.0817 0.2219 5008 , , NA 17969 0.3839 NA 0.3022 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051549 CCDS55907.1 14q11.2 2012-03-09 ENSG00000136367 ENSG00000136367 85446 Zinc fingers, C2H2-type, Homeoboxes / ZF class 20152 protein-coding gene gene with protein product zinc finger protein 409 ZNF409 NA 11214970, 10470851 Standard NM_014894 NM_033400 NA Approved KIAA1762, KIAA1056, ZFH-5 uc010tno.2 Q9C0A1 OTTHUMG00000156894 ENST00000419474.3:c.2934+905C>T chr14.hg19:g.23998013G>A NA Q9UPU6 hg19 CCDS55907.1 0.02 13.42946 GAGxGGT COVERED NOVEL ZFHX2-001 KNOWN not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000346484.3 2 16.253074 KEEP 0 0 0 54 1925 GG 1 1 0 - 16 60 580 0 0 38.085511 303 60 10998 465 ENST00000419474.3 0.050157 1 DHRS4 10901 __UNKNOWN__ __UNKNOWN__ 14 24423090 24423090 __UNKNOWN__ Silent SNP A A G rs2273944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24423090A>G ENST00000313250.5 + 1 296 c.93A>G c.(91-93)gcA>gcG p.A31A DHRS4_ENST00000397073.2_Silent_p.A13A|DHRS4_ENST00000421831.1_Silent_p.A13A|DHRS4_ENST00000559632.1_Silent_p.A31A|DHRS4_ENST00000543741.2_Silent_p.A31A|DHRS4_ENST00000308178.8_Silent_p.A13A|DHRS4_ENST00000558263.1_Silent_p.A31A|DHRS4_ENST00000558581.1_Silent_p.A31A|DHRS4_ENST00000397075.3_Silent_p.A31A|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000382761.3_Silent_p.A13A|DHRS4_ENST00000397074.3_Silent_p.A31A NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 31 NA A -> T (in dbSNP:rs1043442). alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202) extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) 3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) ACCCGCTCGCAAATAAGGTGG 0.662 NA .||| 1415 0.282548 0.7973 0.1254 5008 , , NA 15599 0.1359 NA 0.0875 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 G 3004,1398 1049,906,246 28 36 33 93 0.5 0.5 14 dbSNP_100 33 810,7782 36,738,3522 no coding-synonymous DHRS4 NM_021004.2 1085,1644,3768 GG,GA,AA 9.4274,31.7583,29.352 31/279 24423090 3814,9180 2201 4296 6497 SO:0001819 synonymous_variant AF044127 CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1 14q11.2 2013-06-14 ENSG00000157326 ENSG00000157326 10901 1.1.1.184 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 16985 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 25C, member 2 611596 NA 10333503, 19027726 Standard NM_021004 NA Approved SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2 uc001wla.3 Q9BTZ2 OTTHUMG00000028777 ENST00000313250.5:c.93A>G chr14.hg19:g.24423090A>G NA B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08 hg19 CCDS9605.1 0.02 2.05067 CGCxAAT COVERED NOVEL DHRS4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071857.3 0 6.35111 KEEP 0 1 34 33 953 AA 0.999998 0.999557 0 + 4 60 155 0 0 10.426015 80 60 2828 124 ENST00000313250.5 0.047619 0.999559 DHRS4L2 317749 __UNKNOWN__ __UNKNOWN__ 14 24439455 24439455 __UNKNOWN__ 5'UTR SNP A A T rs117274371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24439455A>T ENST00000534993.1 + 0 308 DHRS4L2_ENST00000543805.1_5'UTR Q6PKH6 DR4L2_HUMAN dehydrogenase/reductase (SDR family) member 4 like 2 NA NA extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 10 GBM - Glioblastoma multiforme(265;0.00962) CGCTACCCCAAGCATCCAGAC 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS9606.2, CCDS73621.1 14q11.2 2011-09-14 ENSG00000187630 ENSG00000187630 317749 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 19731 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 25C, member 3 615196 NA Standard NM_001193635 NA Approved SDR25C3 uc001wlf.3 Q6PKH6 OTTHUMG00000028778 ENST00000534993.1:c.-262A>T chr14.hg19:g.24439455A>T NA Q3YLD4 hg19 0.02 4.146459 CCAxGCA COVERED NOVEL DHRS4L2-202 KNOWN basic protein_coding NA protein_coding 0 5.54938 KEEP 23 1 27 28 862 AA 0.999997 0.999984 0 + 6 27 200 0 0 12.856958 100 50 3629 179 ENST00000534993.1 0.056604 0.999987 DHRS4L2 317749 __UNKNOWN__ __UNKNOWN__ 14 24470231 24470231 __UNKNOWN__ Intron SNP T T G rs79847141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24470231T>G ENST00000335125.6 + 5 605 DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000382755.4_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Intron NM_198083.3 NP_932349.2 Q6PKH6 DR4L2_HUMAN dehydrogenase/reductase (SDR family) member 4 like 2 NA NA extracellular region (GO:0005576) oxidoreductase activity (GO:0016491) breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1) 10 GBM - Glioblastoma multiforme(265;0.00962) TCAGCTCTCTTCTTTTTCCAG 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 T ,,, 129,4277 4,121,2078 167 167 167 ,,, 1.1 0 14 dbSNP_131 167 453,8147 0,453,3847 no intron,intron,intron,intron DHRS4L2 NM_001193635.1,NM_001193636.1,NM_001193637.1,NM_198083.3 ,,, 4,574,5925 GG,GT,TT 5.2674,2.9278,4.4749 ,,, ,,, 24470231 582,12424 2203 4300 6503 SO:0001627 intron_variant CCDS9606.2, CCDS73621.1 14q11.2 2011-09-14 ENSG00000187630 ENSG00000187630 317749 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 19731 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 25C, member 3 615196 NA Standard NM_001193635 NA Approved SDR25C3 uc001wlf.3 Q6PKH6 OTTHUMG00000028778 ENST00000335125.6:c.480-11T>G chr14.hg19:g.24470231T>G NA Q3YLD4 hg19 CCDS9606.2 0.02 12.475287 TCTxCTT COVERED NOVEL DHRS4L2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000071858.4 3 20.793541 KEEP 19 1 37 82 2584 TT 1 1 0 + 11 60 406 0 0 25.155799 303 60 11018 533 ENST00000335125.6 0.035032 1 LRRC16B 90668 __UNKNOWN__ __UNKNOWN__ 14 24526478 24526478 __UNKNOWN__ Intron SNP A A G rs12879859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24526478A>G ENST00000342740.5 + 14 1294 LRRC16B_ENST00000334420.7_Intron NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B NA NA cytoplasm (GO:0005737) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) ATGGGAAGCCAGTCTGAGGTG 0.582 NA A||| 1415 0.282548 0.2073 0.2017 5008 , , NA 21316 0.4196 NA 0.2525 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 A 947,3459 351.6+/-311.3 101,745,1357 62 51 55 -0.7 0 14 dbSNP_121 55 2395,6205 384.9+/-341.3 333,1729,2238 no intron LRRC16B NM_138360.3 434,2474,3595 GG,GA,AA 27.8488,21.4934,25.6958 24526478 3342,9664 2203 4300 6503 SO:0001627 intron_variant AI017934 CCDS32054.1 14q11.2-q12 2010-09-10 2008-02-12 2008-02-12 90668 20272 protein-coding gene gene with protein product 614716 chromosome 14 open reading frame 121 C14orf121 NA 19846667 Standard NM_138360 NM_138360 NA Approved BC008134, crml-1, CARMIL3 uc001wlj.2 Q8ND23 ENST00000342740.5:c.1140+25A>G chr14.hg19:g.24526478A>G NA Q8TEF7|Q96HS9 hg19 CCDS32054.1 0.02 6.936782 GCCxGTC COVERED NOVEL LRRC16B-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416527.1 3 2.579734 KEEP 0 2 76 35 1092 AA 1 1 0 + 6 60 226 0 0 14.133957 168 60 6233 260 ENST00000342740.5 0.034483 1 LRRC16B 90668 __UNKNOWN__ __UNKNOWN__ 14 24529209 24529209 __UNKNOWN__ Silent SNP C C T rs61564890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24529209C>T ENST00000342740.5 + 23 2053 c.1899C>T c.(1897-1899)ccC>ccT p.P633P LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 633 NA cytoplasm (GO:0005737) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) TGTCCTTCCCCGTGAGCGACA 0.642 NA C||| 959 0.191494 0.0416 0.2104 5008 , , NA 20833 0.4643 NA 0.0616 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 C 199,4207 122.1+/-159.5 6,187,2010 154 131 139 1899 -9.1 0.2 14 dbSNP_129 139 474,8126 139.5+/-196.2 11,452,3837 no coding-synonymous LRRC16B NM_138360.3 17,639,5847 TT,TC,CC 5.5116,4.5166,5.1745 633/1373 24529209 673,12333 2203 4300 6503 SO:0001819 synonymous_variant AI017934 CCDS32054.1 14q11.2-q12 2010-09-10 2008-02-12 2008-02-12 90668 20272 protein-coding gene gene with protein product 614716 chromosome 14 open reading frame 121 C14orf121 NA 19846667 Standard NM_138360 NM_138360 NA Approved BC008134, crml-1, CARMIL3 uc001wlj.2 Q8ND23 ENST00000342740.5:c.1899C>T chr14.hg19:g.24529209C>T NA Q8TEF7|Q96HS9 hg19 CCDS32054.1 0.02 3.92287 CCCxGTG COVERED NOVEL LRRC16B-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416527.1 2 10.533269 KEEP 0 0 0 35 1196 CC 0.999999 0.999998 0 + 6 60 223 0 0 14.356033 137 60 4694 206 ENST00000342740.5 0.041958 1 LRRC16B 90668 __UNKNOWN__ __UNKNOWN__ 14 24529260 24529260 __UNKNOWN__ Silent SNP C C T rs58283036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24529260C>T ENST00000342740.5 + 23 2104 c.1950C>T c.(1948-1950)gaC>gaT p.D650D LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 650 NA cytoplasm (GO:0005737) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCACCGAGGACGTCTGGCAGA 0.662 NA C||| 1594 0.318291 0.382 0.2478 5008 , , NA 21073 0.5556 NA 0.0924 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 C 1461,2945 472.0+/-356.2 261,939,1003 120 105 110 1950 -4.8 0.9 14 dbSNP_129 110 777,7823 183.3+/-231.6 39,699,3562 no coding-synonymous LRRC16B NM_138360.3 300,1638,4565 TT,TC,CC 9.0349,33.1593,17.2074 650/1373 24529260 2238,10768 2203 4300 6503 SO:0001819 synonymous_variant AI017934 CCDS32054.1 14q11.2-q12 2010-09-10 2008-02-12 2008-02-12 90668 20272 protein-coding gene gene with protein product 614716 chromosome 14 open reading frame 121 C14orf121 NA 19846667 Standard NM_138360 NM_138360 NA Approved BC008134, crml-1, CARMIL3 uc001wlj.2 Q8ND23 ENST00000342740.5:c.1950C>T chr14.hg19:g.24529260C>T NA Q8TEF7|Q96HS9 hg19 CCDS32054.1 0.02 8.827776 GGAxGTC COVERED NOVEL LRRC16B-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416527.1 2 15.65069 KEEP 0 0 0 52 1817 CC 1 1 0 + 8 60 271 0 0 16.363633 200 60 7050 304 ENST00000342740.5 0.038462 1 RNF31 55072 __UNKNOWN__ __UNKNOWN__ 14 24617921 24617921 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24617921C>T ENST00000324103.6 + 4 875 RNF31_ENST00000382687.3_Intron|RNF31_ENST00000559275.1_Intron|RNF31_ENST00000557878.1_Intron NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 NA NA CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852) CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797) ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GTAAGGAAGGCAGGAAAGGGG 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 151 167 162 NA NA 14 NA 24617921 2018 4187 6205 SO:0001627 intron_variant AK000973 CCDS41931.1 14q11.2 2012-09-20 ENSG00000092098 ENSG00000092098 55072 RING-type (C3HC4) zinc fingers 16031 protein-coding gene gene with protein product HOIL-1-interacting protein 612487 NA 10422847 Standard NM_017999 NM_017999 NA Approved ZIBRA, FLJ10111, FLJ23501, HOIP uc001wmn.1 Q96EP0 OTTHUMG00000028798 ENST00000324103.6:c.555+11C>T chr14.hg19:g.24617921C>T NA A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2 hg19 CCDS41931.1 0.02 13.506952 AGGxAGG COVERED NOVEL RNF31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071921.3 2 44.243664 KEEP 0 0 0 147 5244 CC 1 1 0 + 10 60 353 0 0 20.302967 345 60 13017 631 ENST00000324103.6 0.028169 1 REC8 9985 __UNKNOWN__ __UNKNOWN__ 14 24641526 24641526 __UNKNOWN__ 5'UTR SNP T T C rs4761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24641526T>C ENST00000311457.3 + 0 465 REC8_ENST00000559919.1_5'UTR O95072 REC8_HUMAN REC8 meiotic recombination protein NA NA double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283) condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) GCGGATCCACTGAGGGTCCAC 0.557 NA T||| 2294 0.458067 0.5378 0.5173 5008 , , NA 18568 0.4315 NA 0.3211 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NSCLC(139;1764 2537 12868 49041) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF006264 CCDS41932.1 14q11.2-q12 2013-08-06 2013-08-06 2007-04-03 ENSG00000100918 9985 16879 protein-coding gene gene with protein product 608193 REC8-like 1 (yeast), REC8 homolog (yeast) REC8L1 NA 10207075, 15935783, 12759374 Standard NM_005132 NM_005132 NA Approved Rec8p, kleisin-alpha uc001wms.3 O95072 ENST00000311457.3:c.-135T>C chr14.hg19:g.24641526T>C NA A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9 hg19 CCDS41932.1 0.02 15.187814 CACxGAG COVERED NOVEL REC8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415889.3 7 34.150432 KEEP 0 2 70 138 4305 TT 1 1 0 + 25 60 863 0 0 58.569204 343 60 12840 626 ENST00000311457.3 0.067935 1 RP11-468E2.2 0 __UNKNOWN__ __UNKNOWN__ 14 24649835 24649835 __UNKNOWN__ Intron SNP T T C rs2273911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24649835T>C ENST00000561419.1 - 31 4173 IPO4_ENST00000354464.6_Intron NA NA NA TGCCCCAGGCTCTCTGAGCCC 0.617 NA C||| 2976 0.594249 0.8064 0.3602 5008 , , NA 16316 0.748 NA 0.4076 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 C 993,391 358,277,57 51 54 53 -1.7 0 14 dbSNP_100 53 1215,1967 212,791,588 no intron IPO4 NM_024658.3 570,1068,645 CC,CT,TT 38.1835,28.2514,48.3574 24649835 2208,2358 692 1591 2283 SO:0001627 intron_variant NA NA NA NA ENST00000561419.1:c.429-57A>G chr14.hg19:g.24649835T>C NA hg19 0.02 3.857763 GGCxCTC COVERED NOVEL RP11-468E2.2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000415609.1 1 4.179719 KEEP 0 2 66 37 1128 TT 1 1 0 - 8 60 270 0 0 17.539084 131 60 4554 214 ENST00000561419.1 0.057554 1 IPO4 79711 __UNKNOWN__ __UNKNOWN__ 14 24653954 24653954 __UNKNOWN__ Missense_Mutation SNP G G A rs7146310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24653954G>A ENST00000354464.6 - 16 1714 c.1538C>T c.(1537-1539)gCc>gTc p.A513V RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 513 NA A -> V (in dbSNP:rs7146310). {ECO:0000269|PubMed:11823430, ECO:0000269|PubMed:14702039}. DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CAGCAGCGAGGCCTGGGCAGC 0.622 NA G||| 1592 0.317891 0.2163 0.2363 5008 , , NA 18141 0.4206 NA 0.2654 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 G VAL/ALA 911,3223 105,701,1261 21 26 24 1538 3.3 1 14 dbSNP_116 24 2400,5978 321,1758,2110 yes missense IPO4 NM_024658.3 64 426,2459,3371 AA,AG,GG 28.6465,22.0368,26.4626 benign 513/1082 24653954 3311,9201 2067 4189 6256 SO:0001583 missense AF411122 CCDS9616.1 14q11.2 2003-03-10 ENSG00000196497 ENSG00000196497 79711 Importins 19426 protein-coding gene gene with protein product NA 11823430 Standard NM_024658 NR_051979 NA Approved Imp4, FLJ23338 uc001wmv.1 Q8TEX9 OTTHUMG00000028801 ENST00000354464.6:c.1538C>T chr14.hg19:g.24653954G>A ENSP00000346453:p.Ala513Val NA B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0 hg19 CCDS9616.1 0.02 1.77222 GAGxCCT COVERED 648 0.2967032967032967 106 0.21544715447154472 94 0.2596685082872928 249 0.4353146853146853 199 0.262532981530343 G 14.34 2.506634 0.44558 0.220368 0.286465 ENSG00000196497 ENST00000354464;ENST00000399536 T 0.04654 3.58 5.28 3.32 0.38043 Armadillo-like helical (1);Armadillo-type fold (1); 0.612691 0.17322 N 0.178468 T 0.00012 0.0000 N 0.17474 0.49 0.46317 P 0.0010149999999999881 B 0.09022 0.002 B 0.16722 0.016 T 0.43925 -0.9361 9 0.51188 T 0.08 -1.7252 7.6189 0.28173 0.0:0.1498:0.4235:0.4267 rs7146310;rs17256720;rs61234434;rs7146310 513 Q8TEX9 IPO4_HUMAN V 513;189 ENSP00000346453:A513V ENSP00000346453:A513V A - 2 0 IPO4 23723794 1.000000 0.71417 1.000000 0.80357 0.819000 0.46315 1.072000 0.30678 1.412000 0.46977 0.558000 0.71614 GCC NOVEL IPO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071931.4 2 15.95102 KEEP 0 0 0 53 1840 GG 1 0.999895 0 - 5 60 175 0 0 11.430946 88 60 3176 196 ENST00000354464.6 0.053763 0.999895 IPO4 79711 __UNKNOWN__ __UNKNOWN__ 14 24654489 24654489 __UNKNOWN__ Silent SNP T T C rs2025258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24654489T>C ENST00000354464.6 - 14 1484 c.1308A>G c.(1306-1308)gtA>gtG p.V436V RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 436 NA DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) GCAGTGGCATTACCTCCCTTG 0.577 NA C||| 2312 0.461661 0.3782 0.2939 5008 , , NA 19134 0.7897 NA 0.339 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 C 1560,2650 286,988,831 73 75 75 1308 5.1 1 14 dbSNP_94 75 2895,5573 485,1925,1824 no coding-synonymous IPO4 NM_024658.3 771,2913,2655 CC,CT,TT 34.1875,37.0546,35.1396 436/1082 24654489 4455,8223 2105 4234 6339 SO:0001819 synonymous_variant AF411122 CCDS9616.1 14q11.2 2003-03-10 ENSG00000196497 ENSG00000196497 79711 Importins 19426 protein-coding gene gene with protein product NA 11823430 Standard NM_024658 NR_051979 NA Approved Imp4, FLJ23338 uc001wmv.1 Q8TEX9 OTTHUMG00000028801 ENST00000354464.6:c.1308A>G chr14.hg19:g.24654489T>C NA B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0 hg19 CCDS9616.1 0.02 6.502075 CATxACC COVERED NOVEL IPO4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071931.4 2 7.6835 KEEP 0 2 67 49 1394 TT 1 1 0 - 7 60 249 0 0 15.432861 171 60 5765 256 ENST00000354464.6 0.039326 1 RP11-468E2.2 0 __UNKNOWN__ __UNKNOWN__ 14 24656251 24656251 __UNKNOWN__ Intron SNP C C T rs2295978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24656251C>T ENST00000561419.1 - 8 1712 IPO4_ENST00000354464.6_Intron NA NA NA GACACTTCTGCACTCTCCTTC 0.547 NA C||| 1708 0.341054 0.3124 0.2421 5008 , , NA 22536 0.4216 NA 0.2694 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 C 1319,3037 209,901,1068 217 223 221 -7.1 0 14 dbSNP_100 221 2481,6071 331,1819,2126 no intron IPO4 NM_024658.3 540,2720,3194 TT,TC,CC 29.0108,30.2801,29.4391 24656251 3800,9108 2178 4276 6454 SO:0001627 intron_variant NA NA NA NA ENST00000561419.1:c.428+39G>A chr14.hg19:g.24656251C>T NA hg19 0.02 16.794716 CTGxACT COVERED NOVEL RP11-468E2.2-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000415609.1 4 56.580907 KEEP 0 0 0 188 6638 CC 1 1 0 - 23 60 822 0 0 53.858187 423 60 15732 825 ENST00000561419.1 0.05157 1 TGM1 7051 __UNKNOWN__ __UNKNOWN__ 14 24729009 24729009 __UNKNOWN__ Silent SNP G G A rs186352813 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24729009G>A ENST00000206765.6 - 6 1008 c.885C>T c.(883-885)caC>caT p.H295H TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 295 NA cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149) cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CCAGCACCCCGTGGTCAAACT 0.632 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 12866 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 46 38 40 NA NA 14 NA 24729009 2203 4300 6503 SO:0001819 synonymous_variant D90287 CCDS9622.1 14q11.2 2013-05-02 2013-05-02 ENSG00000092295 ENSG00000092295 7051 2.3.2.13 Transglutaminases 11777 protein-coding gene gene with protein product K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase 190195 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ICR2 NA 11390390 Standard NM_000359 NM_000359 NA Approved TGASE, TGK, LI, LI1 uc001wod.3 P22735 OTTHUMG00000029329 ENST00000206765.6:c.885C>T chr14.hg19:g.24729009G>A NA B4DWR7|Q197M4 hg19 CCDS9622.1 0.02 6.488263 CCCxTGG COVERED NOVEL TGM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073160.6 1 11.135847 KEEP 0 0 0 37 1292 GG 1 1 0 - 10 60 354 0 0 23.168043 180 60 6419 282 ENST00000206765.6 0.052632 1 RABGGTA 5875 __UNKNOWN__ __UNKNOWN__ 14 24740763 24740763 __UNKNOWN__ 5'UTR SNP C C T rs3818161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24740763C>T ENST00000399409.3 - 0 42 RABGGTA_ENST00000216840.6_5'UTR|RABGGTA_ENST00000559586.1_5'UTR NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit NA NA cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601) Rab-protein geranylgeranyltransferase complex (GO:0005968) Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) CTGGCTAGAGCGGCGCCACGT 0.781 NA C||| 1004 0.200479 0.2829 0.1052 5008 , , NA 11856 0.1726 NA 0.1551 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS45088.1 14q11.2 2011-06-27 ENSG00000100949 5875 Prenyltransferase alpha subunit repeat containing 9795 protein-coding gene gene with protein product protein prenyltransferase alpha subunit repeat containing 3 601905 NA 8954794 Standard NM_182836 NM_182836 NA Approved PTAR3 uc001wog.4 Q92696 ENST00000399409.3:c.-442G>A chr14.hg19:g.24740763C>T NA A8K5N2|D3DS69 hg19 CCDS45088.1 0.02 2.040874 GAGxGGC COVERED NOVEL RABGGTA-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415308.5 0 8.727825 KEEP 0 0 0 29 1006 CC 0.999997 0.963771 0 - 4 60 131 0 0 9.109735 42 60 1473 103 ENST00000399409.3 0.086957 0.963774 DHRS1 115817 __UNKNOWN__ __UNKNOWN__ 14 24760009 24760009 __UNKNOWN__ 3'UTR SNP G G A rs4568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24760009G>A ENST00000288111.7 - 0 1274 DHRS1_ENST00000396813.1_3'UTR|DHRS1_ENST00000559088.1_5'UTR NM_001136050.2 NP_001129522.1 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 NA NA endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743) oxidoreductase activity (GO:0016491) cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) GAGACAGGACGAACCACCAAG 0.512 NA g||| 2208 0.440895 0.3404 0.2839 5008 , , NA 20690 0.7143 NA 0.2913 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK058159 CCDS9623.1 14q11.2 2011-09-14 ENSG00000157379 ENSG00000157379 115817 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 16445 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 19C, member 1 610410 NA 12153138, 19027726 Standard NM_138452 NM_138452 NA Approved FLJ25430, MGC20204, SDR19C1 uc001wok.3 Q96LJ7 OTTHUMG00000029333 ENST00000288111.7:c.*56C>T chr14.hg19:g.24760009G>A NA D3DS71|Q8NDG3|Q96B59|Q96CQ5 hg19 CCDS9623.1 0.02 20.919739 GACxAAC COVERED NOVEL DHRS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073168.4 6 21.668091 KEEP 0 0 0 72 2445 GG 1 1 0 - 40 60 1487 0 0 107.797323 446 60 15094 689 ENST00000288111.7 0.082305 1 DHRS1 115817 __UNKNOWN__ __UNKNOWN__ 14 24760255 24760255 __UNKNOWN__ Intron SNP C C T rs2295310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24760255C>T ENST00000288111.7 - 9 1082 DHRS1_ENST00000396813.1_Intron|DHRS1_ENST00000559088.1_Intron NM_001136050.2 NP_001129522.1 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 NA NA endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743) oxidoreductase activity (GO:0016491) cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) TCCTCAGATACCCTCACCTTG 0.567 NA C||| 2210 0.441294 0.3411 0.2824 5008 , , NA 21598 0.7143 NA 0.2922 False NA ,,, NA NA NA 2504 0.5613 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058159 CCDS9623.1 14q11.2 2011-09-14 ENSG00000157379 ENSG00000157379 115817 1.1.-.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 16445 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 19C, member 1 610410 NA 12153138, 19027726 Standard NM_138452 NM_138452 NA Approved FLJ25430, MGC20204, SDR19C1 uc001wok.3 Q96LJ7 OTTHUMG00000029333 ENST00000288111.7:c.806-54G>A chr14.hg19:g.24760255C>T NA D3DS71|Q8NDG3|Q96B59|Q96CQ5 hg19 CCDS9623.1 0.02 10.943226 ATAxCCT COVERED NOVEL DHRS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073168.4 0 8.427514 KEEP 0 0 0 28 993 CC 0.999997 0.999997 0 - 16 60 587 0 0 39.338576 279 60 9996 362 ENST00000288111.7 0.054237 1 CIDEB 27141 __UNKNOWN__ __UNKNOWN__ 14 24775286 24775286 __UNKNOWN__ Missense_Mutation SNP C C T rs147369401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24775286C>T ENST00000336557.5 - 7 1696 c.394G>A c.(394-396)Gcc>Acc p.A132T CIDEB_ENST00000258807.5_Missense_Mutation_p.A132T|CIDEB_ENST00000554411.1_Missense_Mutation_p.A132T|NOP9_ENST00000267425.3_3'UTR Q9UHD4 CIDEB_HUMAN cell death-inducing DFFA-like effector b 132 NA A -> G (in Ref. 1; AAF23324). {ECO:0000305}. apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981) cytosol (GO:0005829)|lipid particle (GO:0005811) identical protein binding (GO:0042802) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0181) GTGAATCGGGCGATGTCCTTG 0.527 NA C||| 8 0.00159744 0.0 0.0 5008 , , NA 21640 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C THR/ALA 1,4405 2.1+/-5.4 0,1,2202 198 168 178 394 5.1 1 14 dbSNP_134 178 0,8600 0,0,4300 yes missense CIDEB NM_014430.2 58 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 probably-damaging 132/220 24775286 1,13005 2203 4300 6503 SO:0001583 missense AF190901 CCDS32056.1 14q12 2012-09-20 ENSG00000136305 ENSG00000136305 27141 1977 protein-coding gene gene with protein product 604441 NA 10619428, 10837461 Standard XM_005267540 NA Approved uc001woo.3 Q9UHD4 OTTHUMG00000171555 ENST00000336557.5:c.394G>A chr14.hg19:g.24775286C>T ENSP00000337731:p.Ala132Thr NA D3DS73|Q546V8|Q9NNW9 hg19 CCDS32056.1 0.02 29.772247 GGGxGAT COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 C 35 5.485691 0.96323 2.27E-4 0.0 ENSG00000136305 ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830 D;D;D 0.84146 -1.81;-1.81;-1.81 5.08 5.08 0.68730 . 0.000000 0.85682 D 0.000000 D 0.92825 0.7718 M 0.84219 2.685 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 D 0.93537 0.6874 10 0.72032 D 0.01 -26.398 17.4084 0.87480 0.0:1.0:0.0:0.0 . 132 Q9UHD4 CIDEB_HUMAN T 132 ENSP00000451089:A132T;ENSP00000337731:A132T;ENSP00000258807:A132T ENSP00000258807:A132T A - 1 0 CIDEB 23845126 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 6.712000 0.74681 2.654000 0.90174 0.563000 0.77884 GCC NOVEL CIDEB-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414120.1 3 40.661209 KEEP 0 1 31 146 5027 CC 1 1 0 - 28 60 989 0 0 61.002223 686 60 24010 1021 ENST00000336557.5 0.039216 1 NOP9 161424 __UNKNOWN__ __UNKNOWN__ 14 24776219 24776219 __UNKNOWN__ 3'UTR SNP T T C rs2332320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24776219T>C ENST00000267425.3 + 0 3922 CIDEB_ENST00000258807.5_Intron|CIDEB_ENST00000554411.1_Intron|CIDEB_ENST00000336557.5_Intron NM_174913.1 NP_777573.1 Q86U38 NOP9_HUMAN NOP9 nucleolar protein NA NA poly(A) RNA binding (GO:0044822) NA ctttttatagttgaagaaact 0.398 NA T||| 1166 0.232827 0.0734 0.1412 5008 , , NA 21615 0.5288 NA 0.1163 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9624.1, CCDS66616.1 14q12 2012-12-10 2012-12-10 2012-06-06 ENSG00000196943 ENSG00000196943 161424 19826 protein-coding gene gene with protein product chromosome 14 open reading frame 21, NOP9 nucleolar protein homolog (yeast) C14orf21 NA 21653694 Standard XM_005267385 NA Approved uc001wol.1 Q86U38 OTTHUMG00000029342 ENST00000267425.3:c.*1918T>C chr14.hg19:g.24776219T>C NA A8MY76|Q8IVF0|Q8TBS6 hg19 CCDS9624.1 0.02 7.51811 TAGxTGA COVERED NOVEL NOP9-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073186.2 2 10.830638 KEEP 0 0 0 36 1114 TT 0.999999 0.999999 0 + 14 60 544 0 0 39.860814 162 60 5680 238 ENST00000267425.3 0.079545 1 LTB4R 1241 __UNKNOWN__ __UNKNOWN__ 14 24785784 24785784 __UNKNOWN__ Silent SNP C C T rs1046584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24785784C>T ENST00000396789.4 + 2 2652 c.927C>T c.(925-927)ggC>ggT p.G309G LTB4R_ENST00000345363.3_Silent_p.G309G|LTB4R_ENST00000396782.2_Silent_p.G309G NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 309 NA cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166) endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) AGGGCACGGGCTCCGAGGCGT 0.761 NA C||| 1181 0.235823 0.0991 0.1398 5008 , , NA 7933 0.5129 NA 0.1153 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 2 2 2 NA NA 14 NA 24785784 1398 2984 4382 SO:0001819 synonymous_variant X98356 CCDS9626.1 14q11.2-q12 2012-08-10 ENSG00000213903 ENSG00000213903 1241 GPCR / Class A : Leukotriene receptors 6713 protein-coding gene gene with protein product 601531 P2RY7, GPR16, CMKRL1 NA 8921391, 8702478 Standard NM_181657 NA Approved BLTR, P2Y7, LTB4R1 uc001wos.3 Q15722 OTTHUMG00000029346 ENST00000396789.4:c.927C>T chr14.hg19:g.24785784C>T NA Q13305|Q53XV5|Q92641|Q9BSU5 hg19 CCDS9626.1 0.02 1.844706 GGGxTCC COVERED NOVEL LTB4R-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073198.4 1 15.047079 KEEP 0 0 0 50 1703 CC 1 0.990964 0 + 7 60 238 0 0 17.649839 55 60 1970 138 ENST00000396789.4 0.112903 0.990964 ADCY4 196883 __UNKNOWN__ __UNKNOWN__ 14 24793647 24793647 __UNKNOWN__ Intron SNP T T C rs6573722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24793647T>C ENST00000310677.4 - 16 1937 ADCY4_ENST00000418030.2_Intron|ADCY4_ENST00000554068.2_Intron|ADCY4_ENST00000396747.3_Intron NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) AGGCTCCCTGTGTGCTATGAA 0.572 NA T||| 2699 0.538938 0.5287 0.5389 5008 , , NA 18756 0.6468 NA 0.4076 False NA ,,, NA NA NA 2504 0.5767 NA NA NA NA 0 T ,, 2169,2237 559.8+/-380.3 503,1163,537 28 27 27 ,, -1.5 0 14 dbSNP_116 27 3394,5206 482.2+/-370.8 655,2084,1561 no intron,intron,intron ADCY4 NM_001198568.1,NM_001198592.1,NM_139247.3 ,, 1158,3247,2098 CC,CT,TT 39.4651,49.2283,42.7726 ,, ,, 24793647 5563,7443 2203 4300 6503 SO:0001627 intron_variant AF497516 CCDS9627.1 14q11.2 2013-02-04 ENSG00000129467 ENSG00000129467 196883 4.6.1.1 Adenylate cyclases 235 protein-coding gene gene with protein product 600292 NA 7766992 Standard NM_001198592 NA Approved AC4 uc001woy.3 Q8NFM4 OTTHUMG00000029347 ENST00000310677.4:c.1824-50A>G chr14.hg19:g.24793647T>C NA B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7 hg19 CCDS9627.1 0.02 3.493063 CTGxGTG COVERED NOVEL ADCY4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073200.4 1 4.51242 KEEP 0 0 0 15 453 TT 0.99649 0.996459 0 - 7 60 215 0 0 13.805589 94 60 3444 121 ENST00000310677.4 0.069307 0.999968 ADCY4 196883 __UNKNOWN__ __UNKNOWN__ 14 24795255 24795255 __UNKNOWN__ Intron SNP G G A rs199860085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24795255G>A ENST00000310677.4 - 13 1769 ADCY4_ENST00000418030.2_Intron|ADCY4_ENST00000554068.2_Intron|ADCY4_ENST00000396747.3_Intron NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CAGGGCCTGCGGCCCCCCCAG 0.602 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 18753 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 51 50 50 NA NA 14 NA 24795255 2203 4300 6503 SO:0001627 intron_variant AF497516 CCDS9627.1 14q11.2 2013-02-04 ENSG00000129467 ENSG00000129467 196883 4.6.1.1 Adenylate cyclases 235 protein-coding gene gene with protein product 600292 NA 7766992 Standard NM_001198592 NA Approved AC4 uc001woy.3 Q8NFM4 OTTHUMG00000029347 ENST00000310677.4:c.1655+29C>T chr14.hg19:g.24795255G>A NA B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7 hg19 CCDS9627.1 0.02 8.666854 TGCxGCC COVERED NOVEL ADCY4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073200.4 0 19.260374 KEEP 0 0 0 64 2138 GG 1 1 0 - 10 60 350 0 0 21.604419 238 60 8166 374 ENST00000310677.4 0.040323 1 ADCY4 196883 __UNKNOWN__ __UNKNOWN__ 14 24795495 24795495 __UNKNOWN__ Intron SNP G G A rs17256902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24795495G>A ENST00000310677.4 - 12 1682 ADCY4_ENST00000418030.2_Intron|ADCY4_ENST00000554068.2_Intron|ADCY4_ENST00000396747.3_Intron NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) AGACTTTGAGGCCTCCTCACC 0.617 NA G||| 1510 0.301518 0.2239 0.1023 5008 , , NA 16525 0.5764 NA 0.1362 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 G ,, 909,3497 350.3+/-310.7 96,717,1390 87 75 79 ,, 1.5 0 14 dbSNP_123 79 1034,7566 220.2+/-258.0 63,908,3329 no intron,intron,intron ADCY4 NM_001198568.1,NM_001198592.1,NM_139247.3 ,, 159,1625,4719 AA,AG,GG 12.0233,20.631,14.9393 ,, ,, 24795495 1943,11063 2203 4300 6503 SO:0001627 intron_variant AF497516 CCDS9627.1 14q11.2 2013-02-04 ENSG00000129467 ENSG00000129467 196883 4.6.1.1 Adenylate cyclases 235 protein-coding gene gene with protein product 600292 NA 7766992 Standard NM_001198592 NA Approved AC4 uc001woy.3 Q8NFM4 OTTHUMG00000029347 ENST00000310677.4:c.1568+9C>T chr14.hg19:g.24795495G>A NA B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7 hg19 CCDS9627.1 0.02 8.096688 GAGxCCT COVERED NOVEL ADCY4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073200.4 2 12.942157 KEEP 0 0 0 43 1541 GG 1 1 0 - 14 60 489 0 0 32.266663 232 60 8529 339 ENST00000310677.4 0.056911 1 RIPK3 11035 __UNKNOWN__ __UNKNOWN__ 14 24809185 24809185 __UNKNOWN__ 5'UTR SNP T T C rs3212251 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24809185T>C ENST00000216274.5 - 0 66 RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 NA NA activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) TTCCGGGTTGTTACCCTTTTT 0.572 NA C||| 920 0.183706 0.2209 0.0591 5008 , , NA 18506 0.3155 NA 0.0616 False NA ,,, NA NA NA 2504 0.2117 NA NA NA Pancreas(58;918 1191 4668 13304 15331) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF156884 CCDS9628.1 14q12 2006-05-15 ENSG00000129465 ENSG00000129465 11035 10021 protein-coding gene gene with protein product 605817 NA 10339433, 10358032 Standard NM_006871 NM_006871 NA Approved RIP3 uc001wpb.3 Q9Y572 OTTHUMG00000029349 ENST00000216274.5:c.-153A>G chr14.hg19:g.24809185T>C NA B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1 hg19 CCDS9628.1 0.02 22.157934 TTGxTAC COVERED NOVEL RIPK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073203.4 2 21.662945 KEEP 0 0 0 72 2228 TT 1 1 0 - 16 60 592 1 0 36.048626 488 60 17166 725 ENST00000216274.5 0.031746 1 RIPK3 11035 __UNKNOWN__ __UNKNOWN__ 14 24809191 24809191 __UNKNOWN__ 5'UTR SNP T T C rs3212250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24809191T>C ENST00000216274.5 - 0 60 RIPK3_ENST00000554338.1_5'UTR NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 NA NA activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713) NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GTTGTTACCCTTTTTCCGAGT 0.572 NA C||| 920 0.183706 0.2209 0.0591 5008 , , NA 18681 0.3155 NA 0.0616 False NA ,,, NA NA NA 2504 0.2117 NA NA NA Pancreas(58;918 1191 4668 13304 15331) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF156884 CCDS9628.1 14q12 2006-05-15 ENSG00000129465 ENSG00000129465 11035 10021 protein-coding gene gene with protein product 605817 NA 10339433, 10358032 Standard NM_006871 NM_006871 NA Approved RIP3 uc001wpb.3 Q9Y572 OTTHUMG00000029349 ENST00000216274.5:c.-159A>G chr14.hg19:g.24809191T>C NA B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1 hg19 CCDS9628.1 0.02 22.166954 CCCxTTT COVERED NOVEL RIPK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000073203.4 2 21.664491 KEEP 0 0 0 72 2270 TT 1 1 0 - 17 60 614 1 0 37.27582 486 60 17975 721 ENST00000216274.5 0.033797 1 NFATC4 4776 __UNKNOWN__ __UNKNOWN__ 14 24838621 24838621 __UNKNOWN__ Intron SNP C C T rs1955915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24838621C>T ENST00000413692.2 + 3 433 NFATC4_ENST00000555453.1_Intron|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000440487.2_Intron|NFATC4_ENST00000422617.3_Intron|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000424781.2_Intron|NFATC4_ENST00000539237.2_Intron|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000556279.1_Intron|NFATC4_ENST00000553879.1_Intron|NFATC4_ENST00000555590.1_Intron|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000553708.1_Intron|NFATC4_ENST00000250373.4_Intron|NFATC4_ENST00000554344.1_5'UTR NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 NA NA cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) GAAGGACTTGCGGCCTGGCCA 0.537 NA C||| 2818 0.5627 0.5915 0.5418 5008 , , NA 17459 0.7163 NA 0.3469 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC053855 CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1 14q11.2 2009-11-24 ENSG00000100968 ENSG00000100968 4776 Nuclear factor of activated T-cells 7778 protein-coding gene gene with protein product 602699 NA 7749981 Standard NM_004554 NM_004554 NA Approved NFAT3 uc010tok.2 Q14934 OTTHUMG00000029351 ENST00000413692.2:c.290-84C>T chr14.hg19:g.24838621C>T NA B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68 hg19 CCDS45089.1 0.02 30.009062 TTGxGGC COVERED NOVEL NFATC4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414125.2 4 60.097119 KEEP 0 7 208 273 9449 CC 1 1 0 + 42 60 1443 0 0 94.917663 677 60 24215 1240 ENST00000413692.2 0.058414 1 NFATC4 4776 __UNKNOWN__ __UNKNOWN__ 14 24839165 24839165 __UNKNOWN__ Silent SNP C C T rs2228233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24839165C>T ENST00000413692.2 + 3 894 c.750C>T c.(748-750)gaC>gaT p.D250D NFATC4_ENST00000555453.1_Silent_p.D175D|NFATC4_ENST00000556169.1_Silent_p.D175D|NFATC4_ENST00000553469.1_Silent_p.D219D|NFATC4_ENST00000557451.1_Silent_p.D117D|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000422617.3_Silent_p.D175D|NFATC4_ENST00000554966.1_Silent_p.D200D|NFATC4_ENST00000424781.2_Silent_p.D200D|NFATC4_ENST00000539237.2_Silent_p.D219D|NFATC4_ENST00000554591.1_Silent_p.D250D|NFATC4_ENST00000554050.1_Silent_p.D187D|NFATC4_ENST00000556279.1_Silent_p.D219D|NFATC4_ENST00000553879.1_Silent_p.D117D|NFATC4_ENST00000555590.1_Silent_p.D200D|NFATC4_ENST00000554661.1_Silent_p.D117D|NFATC4_ENST00000553708.1_Silent_p.D187D|NFATC4_ENST00000250373.4_Silent_p.D187D|NFATC4_ENST00000554344.1_Silent_p.D117D NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 187 2 approximate SP repeats.|Pro-rich. NA cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) ATGCCTCTGACGAGGCAGCCC 0.677 NA C||| 2004 0.40016 0.3986 0.4323 5008 , , NA 13805 0.4692 NA 0.2644 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 C ,,,, 1539,2789 287,965,912 23 25 24 750,561,351,750,561 -7.2 0.2 14 dbSNP_98 24 2264,6272 323,1618,2327 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous NFATC4 NM_001136022.1,NM_001198965.1,NM_001198966.1,NM_001198967.1,NM_004554.4 ,,,, 610,2583,3239 TT,TC,CC 26.523,35.5591,29.5631 ,,,, 250/965,187/795,117/833,250/858,187/903 24839165 3803,9061 2164 4268 6432 SO:0001819 synonymous_variant BC053855 CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1 14q11.2 2009-11-24 ENSG00000100968 ENSG00000100968 4776 Nuclear factor of activated T-cells 7778 protein-coding gene gene with protein product 602699 NA 7749981 Standard NM_004554 NM_004554 NA Approved NFAT3 uc010tok.2 Q14934 OTTHUMG00000029351 ENST00000413692.2:c.750C>T chr14.hg19:g.24839165C>T NA B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68 hg19 CCDS45089.1 0.02 11.332544 TGAxGAG COVERED NOVEL NFATC4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414125.2 1 44.275184 KEEP 0 4 125 191 6525 CC 1 1 0 + 24 60 882 0 0 63.452484 273 60 9732 619 ENST00000413692.2 0.080808 1 NFATC4 4776 __UNKNOWN__ __UNKNOWN__ 14 24846961 24846961 __UNKNOWN__ 3'UTR SNP G G T rs10362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24846961G>T ENST00000413692.2 + 0 3851 NFATC4_ENST00000555453.1_3'UTR|NFATC4_ENST00000557451.1_3'UTR|NFATC4_ENST00000422617.3_3'UTR|NFATC4_ENST00000555393.1_3'UTR|NFATC4_ENST00000424781.2_3'UTR|NFATC4_ENST00000539237.2_3'UTR|NFATC4_ENST00000554591.1_3'UTR|NFATC4_ENST00000554050.1_3'UTR|NFATC4_ENST00000553708.1_3'UTR|NFATC4_ENST00000555167.1_3'UTR|NFATC4_ENST00000555802.1_3'UTR|NFATC4_ENST00000250373.4_3'UTR|NFATC4_ENST00000556759.1_3'UTR NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 NA NA cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CCTCAGCCCTGCCCCCTTTCC 0.622 NA G||| 911 0.181909 0.0658 0.3617 5008 , , NA 18616 0.1518 NA 0.1829 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 G ,,,, 407,3999 201.5+/-224.5 24,359,1820 43 42 43 ,,,, 2.2 0 14 dbSNP_52 43 1678,6922 306.8+/-308.1 169,1340,2791 no utr-3,utr-3,utr-3,utr-3,utr-3 NFATC4 NM_001136022.1,NM_001198965.1,NM_001198966.1,NM_001198967.1,NM_004554.4 ,,,, 193,1699,4611 TT,TG,GG 19.5116,9.2374,16.0311 ,,,, ,,,, 24846961 2085,10921 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC053855 CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1 14q11.2 2009-11-24 ENSG00000100968 ENSG00000100968 4776 Nuclear factor of activated T-cells 7778 protein-coding gene gene with protein product 602699 NA 7749981 Standard NM_004554 NM_004554 NA Approved NFAT3 uc010tok.2 Q14934 OTTHUMG00000029351 ENST00000413692.2:c.*812G>T chr14.hg19:g.24846961G>T NA B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68 hg19 CCDS45089.1 0.02 5.782849 CCTxCCC COVERED NOVEL NFATC4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414125.2 0 12.640439 KEEP 0 0 0 42 1472 GG 1 1 0 + 8 60 276 0 0 17.436711 161 60 5982 233 ENST00000413692.2 0.047337 1 NFATC4 4776 __UNKNOWN__ __UNKNOWN__ 14 24848281 24848281 __UNKNOWN__ 3'UTR SNP A A G rs11848279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24848281A>G ENST00000413692.2 + 0 5171 NFATC4_ENST00000557451.1_3'UTR|NFATC4_ENST00000422617.3_3'UTR|NFATC4_ENST00000424781.2_3'UTR|NFATC4_ENST00000539237.2_3'UTR|NFATC4_ENST00000553708.1_3'UTR|NFATC4_ENST00000555167.1_3'UTR|NFATC4_ENST00000250373.4_3'UTR NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 NA NA cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TCTATGCCCAATGAGTCCAGG 0.572 NA A||| 1597 0.31889 0.2027 0.3919 5008 , , NA 20102 0.4345 NA 0.2097 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC053855 CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1 14q11.2 2009-11-24 ENSG00000100968 ENSG00000100968 4776 Nuclear factor of activated T-cells 7778 protein-coding gene gene with protein product 602699 NA 7749981 Standard NM_004554 NM_004554 NA Approved NFAT3 uc010tok.2 Q14934 OTTHUMG00000029351 ENST00000413692.2:c.*2132A>G chr14.hg19:g.24848281A>G NA B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68 hg19 CCDS45089.1 0.02 7.160377 CCAxTGA COVERED NOVEL NFATC4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414125.2 3 15.638099 KEEP 0 0 0 52 1591 AA 1 1 0 + 16 60 586 0 0 42.253744 178 60 6388 298 ENST00000413692.2 0.082474 1 NYNRIN 57523 __UNKNOWN__ __UNKNOWN__ 14 24877699 24877699 __UNKNOWN__ Missense_Mutation SNP A A G rs74036628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24877699A>G ENST00000382554.3 + 3 1141 c.823A>G c.(823-825)Agc>Ggc p.S275G NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 275 NA DNA integration (GO:0015074) integral component of membrane (GO:0016021) nucleic acid binding (GO:0003676) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CACAGCCCAGAGCACACCGCA 0.557 NA A||| 428 0.0854633 0.1377 0.036 5008 , , NA 17776 0.1429 NA 0.002 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 A GLY/SER 401,3803 17,367,1718 16 18 17 823 3.8 0 14 dbSNP_130 17 13,8425 0,13,4206 yes missense NYNRIN NM_025081.2 56 17,380,5924 GG,GA,AA 0.1541,9.5385,3.2748 benign 275/1899 24877699 414,12228 2102 4219 6321 SO:0001583 missense AB037726 CCDS45090.1 14q11.2 2009-10-14 2009-10-14 2009-10-14 ENSG00000205978 57523 20165 protein-coding gene gene with protein product Cousin of GIN1 KIAA1305 KIAA1305 NA 19561090, 17114934 Standard NM_025081 NA Approved FLJ11811, CGIN1 uc001wpf.4 Q9P2P1 ENST00000382554.3:c.823A>G chr14.hg19:g.24877699A>G ENSP00000371994:p.Ser275Gly NA Q6P153|Q86TR3|Q9HAC4 hg19 CCDS45090.1 0.02 10.92128 CAGxGCA COVERED 140 0.0641025641025641 61 0.12398373983739837 9 0.024861878453038673 68 0.11888111888111888 2 0.002638522427440633 A 3.063 -0.192825 0.06259 0.095385 0.001541 ENSG00000205978 ENST00000382554 T 0.11495 2.77 4.96 3.82 0.43975 . 3.272380 0.00664 N 0.000601 T 0.00109 0.0003 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30179 -0.9987 9 0.26408 T 0.33 . 7.2075 0.25915 0.9008:0.0:0.0992:0.0 . 275 Q9P2P1 NYNRI_HUMAN G 275 ENSP00000371994:S275G ENSP00000371994:S275G S + 1 0 NYNRIN 23947539 0.001000 0.12720 0.036000 0.18154 0.099000 0.18886 0.882000 0.28186 0.909000 0.36697 0.459000 0.35465 AGC NOVEL NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412939.1 1 27.383161 KEEP 0 0 0 91 2908 AA 1 1 0 + 11 60 382 0 0 23.836046 241 60 8786 427 ENST00000382554.3 0.043651 1 NYNRIN 57523 __UNKNOWN__ __UNKNOWN__ 14 24879471 24879471 __UNKNOWN__ Intron SNP T T C rs61475591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24879471T>C ENST00000382554.3 + 4 2732 NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing NA NA DNA integration (GO:0015074) integral component of membrane (GO:0016021) nucleic acid binding (GO:0003676) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGGCAGGGCATCCCTGGGGGA 0.622 NA T||| 399 0.0796725 0.118 0.0331 5008 , , NA 17465 0.1429 NA 0.001 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037726 CCDS45090.1 14q11.2 2009-10-14 2009-10-14 2009-10-14 ENSG00000205978 57523 20165 protein-coding gene gene with protein product Cousin of GIN1 KIAA1305 KIAA1305 NA 19561090, 17114934 Standard NM_025081 NA Approved FLJ11811, CGIN1 uc001wpf.4 Q9P2P1 ENST00000382554.3:c.2414+57T>C chr14.hg19:g.24879471T>C NA Q6P153|Q86TR3|Q9HAC4 hg19 CCDS45090.1 0.02 2.218513 GCAxCCC COVERED NOVEL NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412939.1 3 9.028334 KEEP 0 0 0 30 979 TT 0.999997 0.9937 0 + 5 60 171 0 0 11.838606 60 60 2086 102 ENST00000382554.3 0.076923 0.993703 NYNRIN 57523 __UNKNOWN__ __UNKNOWN__ 14 24880720 24880720 __UNKNOWN__ Intron SNP T T A rs2273635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24880720T>A ENST00000382554.3 + 6 2960 NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing NA NA DNA integration (GO:0015074) integral component of membrane (GO:0016021) nucleic acid binding (GO:0003676) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GTGTGTCAGGTGGAGTCCGGC 0.607 NA OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 268 0.0535144 0.0212 0.0288 5008 , , NA 17773 0.1429 NA 0.001 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037726 CCDS45090.1 14q11.2 2009-10-14 2009-10-14 2009-10-14 ENSG00000205978 57523 20165 protein-coding gene gene with protein product Cousin of GIN1 KIAA1305 KIAA1305 NA 19561090, 17114934 Standard NM_025081 NA Approved FLJ11811, CGIN1 uc001wpf.4 Q9P2P1 ENST00000382554.3:c.2642+64T>A chr14.hg19:g.24880720T>A 774 Q6P153|Q86TR3|Q9HAC4 hg19 CCDS45090.1 0.02 4.780303 AGGxGGA COVERED NOVEL NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412939.1 0 3.007495 KEEP 0 0 0 10 306 TT 0.992708 0.992681 0 + 8 60 306 0 0 22.240978 94 60 3394 115 ENST00000382554.3 0.078431 0.999973 NYNRIN 57523 __UNKNOWN__ __UNKNOWN__ 14 24887238 24887238 __UNKNOWN__ 3'UTR SNP T T G rs74036632|rs386775688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24887238T>G ENST00000382554.3 + 0 6601 NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing NA NA DNA integration (GO:0015074) integral component of membrane (GO:0016021) nucleic acid binding (GO:0003676) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCTGCACAGCTCTCAGGGCAG 0.632 NA T||| 499 0.0996406 0.1831 0.036 5008 , , NA 15948 0.1488 NA 0.001 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037726 CCDS45090.1 14q11.2 2009-10-14 2009-10-14 2009-10-14 ENSG00000205978 57523 20165 protein-coding gene gene with protein product Cousin of GIN1 KIAA1305 KIAA1305 NA 19561090, 17114934 Standard NM_025081 NA Approved FLJ11811, CGIN1 uc001wpf.4 Q9P2P1 ENST00000382554.3:c.*586T>G chr14.hg19:g.24887238T>G NA Q6P153|Q86TR3|Q9HAC4 hg19 CCDS45090.1 0.02 3.745286 AGCxCTC COVERED NOVEL NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412939.1 0 8.724219 KEEP 0 0 0 29 904 TT 0.999997 0.999997 0 + 7 60 231 0 0 14.659188 121 60 4427 184 ENST00000382554.3 0.054687 1 CBLN3 643866 __UNKNOWN__ __UNKNOWN__ 14 24897948 24897948 __UNKNOWN__ Intron SNP G G T rs73593269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24897948G>T ENST00000555436.1 - 2 216 CBLN3_ENST00000267406.6_Intron Q6UW01 CBLN3_HUMAN cerebellin 3 precursor NA NA cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) CTGGACAGGGGTAGGGGGATT 0.567 NA G||| 637 0.127196 0.2103 0.0533 5008 , , NA 15143 0.1974 NA 0.0358 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 G 714,3692 51,612,1540 35 41 39 2.7 0 14 dbSNP_130 39 268,8330 2,264,4033 no intron CBLN3 NM_001039771.2 53,876,5573 TT,TG,GG 3.117,16.2052,7.5515 24897948 982,12022 2203 4299 6502 SO:0001627 intron_variant AY359070 CCDS32057.1 14q12 2006-12-13 ENSG00000139899 643866 20146 protein-coding gene gene with protein product 612978 NA 12975309 Standard XM_115232 NM_001039771 NA Approved uc001wpg.4 Q6UW01 ENST00000555436.1:c.148-337C>A chr14.hg19:g.24897948G>T NA hg19 0.02 6.275928 GGGxTAG COVERED NOVEL CBLN3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412944.1 1 36.716059 KEEP 0 0 0 122 4277 GG 1 1 0 - 8 60 278 1 0 17.414719 172 60 6395 404 ENST00000555436.1 0.044444 1 CBLN3 643866 __UNKNOWN__ __UNKNOWN__ 14 24898556 24898556 __UNKNOWN__ Intron SNP G G C rs2273633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24898556G>C ENST00000555436.1 - 2 216 KHNYN_ENST00000251343.5_5'UTR|CBLN3_ENST00000267406.6_5'UTR Q6UW01 CBLN3_HUMAN cerebellin 3 precursor NA NA cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202) central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) AGAGCTTCAGGGCAGCCCTGC 0.607 NA G||| 674 0.134585 0.2103 0.0533 5008 , , NA 18215 0.2312 NA 0.0368 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY359070 CCDS32057.1 14q12 2006-12-13 ENSG00000139899 643866 20146 protein-coding gene gene with protein product 612978 NA 12975309 Standard XM_115232 NM_001039771 NA Approved uc001wpg.4 Q6UW01 ENST00000555436.1:c.148-945C>G chr14.hg19:g.24898556G>C NA hg19 0.02 15.4567 CAGxGCA COVERED NOVEL CBLN3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412944.1 3 37.915342 KEEP 0 0 0 126 4322 GG 1 1 0 - 20 60 710 0 0 47.014465 340 60 12229 538 ENST00000555436.1 0.055556 1 RP11-80A15.1 0 __UNKNOWN__ __UNKNOWN__ 14 24975814 24975814 __UNKNOWN__ Intron SNP T T C rs5248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24975814T>C ENST00000555109.1 + 2 143 CMA1_ENST00000250378.3_Intron|CMA1_ENST00000206446.4_Intron NA NA NA TATAGACCTGTTGTGAGGAAG 0.448 NA T||| 594 0.11861 0.1271 0.0576 5008 , , NA 21297 0.2222 NA 0.0726 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 T 557,3849 249.0+/-256.6 46,465,1692 203 186 192 5.1 0.2 14 dbSNP_52 192 606,7994 159.2+/-212.6 21,564,3715 no intron CMA1 NM_001836.2 67,1029,5407 CC,CT,TT 7.0465,12.6419,8.942 24975814 1163,11843 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000555109.1:c.142-1526T>C chr14.hg19:g.24975814T>C NA hg19 0.02 7.148466 CTGxTGT COVERED NOVEL RP11-80A15.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000412822.1 3 4.212866 KEEP 0 0 0 14 448 TT 0.995343 0.995343 0 + 15 60 572 0 0 41.827477 168 60 6024 226 ENST00000555109.1 0.081967 1 RP11-80A15.1 0 __UNKNOWN__ __UNKNOWN__ 14 24977594 24977594 __UNKNOWN__ 3'UTR SNP A A G rs5244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:24977594A>G ENST00000555109.1 + 0 398 NA NA NA GTTTCTGATCAGAAGTTCCCC 0.468 NA A||| 1226 0.244808 0.3359 0.1484 5008 , , NA 18151 0.2421 NA 0.2097 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000555109.1:c.*132A>G chr14.hg19:g.24977594A>G NA hg19 0.02 7.104624 ATCxGAA COVERED NOVEL RP11-80A15.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000412822.1 1 6.920473 KEEP 0 0 0 23 719 AA 0.999892 0.999892 0 + 13 60 463 0 0 31.954714 176 60 6515 261 ENST00000555109.1 0.068783 1 STXBP6 29091 __UNKNOWN__ __UNKNOWN__ 14 25281219 25281219 __UNKNOWN__ 3'UTR SNP T T C rs2297060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:25281219T>C ENST00000323944.5 - 0 1780 STXBP6_ENST00000396700.1_3'UTR|STXBP6_ENST00000548724.1_3'UTR Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) NA NA negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) taattccaagtaaacaccctg 0.353 NA T||| 294 0.0587061 0.0023 0.0173 5008 , , NA 17036 0.1647 NA 0.0119 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF161505 CCDS9634.1 14q11.2 2002-12-18 ENSG00000168952 ENSG00000168952 29091 19666 protein-coding gene gene with protein product 607958 NA 12145319 Standard NM_014178 NA Approved amisyn, HSPC156 uc001wpu.3 Q8NFX7 OTTHUMG00000140186 ENST00000323944.5:c.*696A>G chr14.hg19:g.25281219T>C NA D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008 hg19 CCDS9634.1 0.02 6.633549 AAGxAAA COVERED NOVEL STXBP6-006 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409166.1 3 11.132125 KEEP 0 0 0 37 1130 TT 1 1 0 - 6 60 229 0 0 14.605032 157 60 5514 231 ENST00000323944.5 0.03681 1 STXBP6 29091 __UNKNOWN__ __UNKNOWN__ 14 25281843 25281843 __UNKNOWN__ 3'UTR SNP C C T rs712491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:25281843C>T ENST00000323944.5 - 0 1156 STXBP6_ENST00000396700.1_3'UTR|STXBP6_ENST00000419632.2_3'UTR|STXBP6_ENST00000548369.1_3'UTR|STXBP6_ENST00000548724.1_3'UTR|STXBP6_ENST00000546511.1_3'UTR|STXBP6_ENST00000550887.1_3'UTR Q8NFX7 STXB6_HUMAN syntaxin binding protein 6 (amisyn) NA NA negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) central_nervous_system(2)|endometrium(2)|large_intestine(3) 7 GBM - Glioblastoma multiforme(265;0.0296) GCGGAGGTCCCGAATTCTTGT 0.373 NA C||| 952 0.190096 0.0507 0.1844 5008 , , NA 17635 0.3194 NA 0.3042 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 C 128,1256 4,120,568 68 60 62 -8.8 0 14 dbSNP_86 62 941,2241 154,633,804 no utr-3 STXBP6 NM_014178.6 158,753,1372 TT,TC,CC 29.5726,9.2486,23.4122 25281843 1069,3497 692 1591 2283 SO:0001624 3_prime_UTR_variant AF161505 CCDS9634.1 14q11.2 2002-12-18 ENSG00000168952 ENSG00000168952 29091 19666 protein-coding gene gene with protein product 607958 NA 12145319 Standard NM_014178 NA Approved amisyn, HSPC156 uc001wpu.3 Q8NFX7 OTTHUMG00000140186 ENST00000323944.5:c.*72G>A chr14.hg19:g.25281843C>T NA D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008 hg19 CCDS9634.1 0.02 8.830192 TCCxGAA COVERED NOVEL STXBP6-006 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409166.1 1 6.591175 KEEP 0 2 66 45 1532 CC 1 1 0 - 8 60 303 0 0 19.21371 211 60 7624 314 ENST00000323944.5 0.03653 1 C14orf23 387978 __UNKNOWN__ __UNKNOWN__ 14 29261946 29261946 __UNKNOWN__ 3'UTR SNP A A G rs1950191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:29261946A>G ENST00000399387.4 + 0 1087 C14orf23_ENST00000550266.1_3'UTR|C14orf23_ENST00000548213.1_Intron chromosome 14 open reading frame 23 NA NA central_nervous_system(1) 1 GGAAAAAGGAACACTAAGACT 0.398 NA A||| 680 0.135783 0.1362 0.0389 5008 , , NA 16111 0.2321 NA 0.0915 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 14q11.2 2013-01-15 ENSG00000186960 ENSG00000186960 387978 19828 other unknown NA Standard NR_026731 NR_026731 NA Approved uc001wqf.3 Q86U37 OTTHUMG00000029410 ENST00000399387.4:c.*479A>G chr14.hg19:g.29261946A>G NA hg19 0.02 9.655208 GGAxCAC COVERED NOVEL C14orf23-003 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000134019.2 1 9.3261 KEEP 0 0 0 31 967 AA 0.999997 0.999997 0 + 10 60 393 0 0 26.490271 206 60 7415 296 ENST00000399387.4 0.046296 1 SCFD1 23256 __UNKNOWN__ __UNKNOWN__ 14 31091738 31091738 __UNKNOWN__ Intron SNP T T A rs183151024 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31091738T>A ENST00000458591.2 + 1 288 SCFD1_ENST00000396629.2_Intron|SCFD1_ENST00000541123.1_Intron|SCFD1_ENST00000421551.3_Intron|SCFD1_ENST00000544052.2_Intron NM_016106.3 NP_057190.2 Q8WVM8 SCFD1_HUMAN sec1 family domain containing 1 NA NA post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904) cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886) syntaxin binding (GO:0019905) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) GCCCCTCCCCTTTGAGTTTTT 0.572 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 17555 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF110646 CCDS9639.1, CCDS45092.1, CCDS58308.1 14q12 2006-04-04 2004-01-15 2004-01-16 ENSG00000092108 ENSG00000092108 23256 20726 protein-coding gene gene with protein product chromosome 14 open reading frame 163 C14orf163 NA Standard NM_182835 NM_016106 NA Approved RA410, KIAA0917, STXBP1L2, SLY1 uc001wqm.2 Q8WVM8 OTTHUMG00000029420 ENST00000458591.2:c.61+133T>A chr14.hg19:g.31091738T>A NA A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8 hg19 CCDS9639.1 0.02 4.343684 CCCxTTG COVERED NOVEL SCFD1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276612.3 1 20.759939 KEEP 0 0 0 69 2178 TT 1 1 0 + 5 60 188 0 0 12.002095 124 60 4503 231 ENST00000458591.2 0.03876 1 STRN3 29966 __UNKNOWN__ __UNKNOWN__ 14 31420047 31420047 __UNKNOWN__ Intron SNP T T C rs3736743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31420047T>C ENST00000357479.5 - 4 739 STRN3_ENST00000355683.5_Intron NM_001083893.1 NP_001077362.1 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 NA NA negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355) cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TTAAAGAAGGTTGAAAATAAG 0.368 NA t||| 475 0.0948482 0.0461 0.1484 5008 , , NA 16849 0.2044 NA 0.0308 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 T , 198,4208 124.9+/-162.1 1,196,2006 112 110 111 , -0.5 0.1 14 dbSNP_107 111 291,8309 107.0+/-167.8 5,281,4014 no intron,intron STRN3 NM_001083893.1,NM_014574.3 , 6,477,6020 CC,CT,TT 3.3837,4.4939,3.7598 , , 31420047 489,12517 2203 4300 6503 SO:0001627 intron_variant CCDS9641.1, CCDS41938.1 14q13-q21 2013-01-10 ENSG00000196792 ENSG00000196792 29966 WD repeat domain containing 15720 protein-coding gene gene with protein product cell cycle S/G2 nuclear autoantigen 614766 NA 7864889, 10681496 Standard NM_014574 NM_014574 NA Approved SG2NA uc001wqu.2 Q13033 OTTHUMG00000140201 ENST00000357479.5:c.542+21A>G chr14.hg19:g.31420047T>C NA A2RTX7|A6NHZ7|Q9NRA5 hg19 CCDS41938.1 0.02 9.000224 AGGxTGA COVERED NOVEL STRN3-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409713.1 0 14.437711 KEEP 0 0 0 48 1432 TT 1 1 0 - 7 60 263 0 0 16.317425 203 60 7270 318 ENST00000357479.5 0.033333 1 STRN3 29966 __UNKNOWN__ __UNKNOWN__ 14 31495346 31495346 __UNKNOWN__ Missense_Mutation SNP C C T rs2281563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31495346C>T ENST00000357479.5 - 1 242 c.46G>A c.(46-48)Gcc>Acc p.A16T AP4S1_ENST00000216366.4_Intron|AP4S1_ENST00000542754.2_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554345.1_Intron|AP4S1_ENST00000334725.4_Intron|STRN3_ENST00000355683.5_Missense_Mutation_p.A16T NM_001083893.1 NP_001077362.1 Q13033 STRN3_HUMAN striatin, calmodulin binding protein 3 16 NA negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355) cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) CGGGGAGGGGCCGCCATCCCC 0.786 NA c||| 703 0.140375 0.0809 0.1037 5008 , , NA 7621 0.1935 NA 0.0885 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 1 2 2 NA NA 14 NA 31495346 1068 2566 3634 SO:0001583 missense CCDS9641.1, CCDS41938.1 14q13-q21 2013-01-10 ENSG00000196792 ENSG00000196792 29966 WD repeat domain containing 15720 protein-coding gene gene with protein product cell cycle S/G2 nuclear autoantigen 614766 NA 7864889, 10681496 Standard NM_014574 NM_014574 NA Approved SG2NA uc001wqu.2 Q13033 OTTHUMG00000140201 ENST00000357479.5:c.46G>A chr14.hg19:g.31495346C>T ENSP00000350071:p.Ala16Thr NA A2RTX7|A6NHZ7|Q9NRA5 hg19 CCDS41938.1 0.02 -0.438578 GGGxCGC COVERED 258 0.11813186813186813 50 0.1016260162601626 39 0.10773480662983426 108 0.1888111888111888 61 0.08047493403693931 c 16.87 3.242844 0.58995 . . ENSG00000196792 ENST00000355683;ENST00000357479 D;D 0.84873 -1.91;-1.91 4.61 2.71 0.32032 . 0.976305 0.08426 N 0.947564 T 0.00300 0.0009 N 0.19112 0.55 0.39237 P 0.03621200000000002 B;B 0.15473 0.013;0.008 B;B 0.17098 0.017;0.007 T 0.05852 -1.0860 9 0.19590 T 0.45 -13.533 10.7692 0.46312 0.1482:0.7091:0.1427:0.0 rs2281563 16;16 Q13033-2;Q13033 .;STRN3_HUMAN T 16 ENSP00000347909:A16T;ENSP00000350071:A16T ENSP00000347909:A16T A - 1 0 STRN3 30565097 1.000000 0.71417 0.973000 0.42090 0.951000 0.60555 3.945000 0.56637 0.507000 0.28148 -0.324000 0.08512 GCC NOVEL STRN3-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409713.1 1 22.2067 KEEP 0 0 0 74 2526 CC 1 0.959859 0 - 5 60 132 0 0 8.543016 45 60 1598 176 ENST00000357479.5 0.1 0.959859 AP4S1 11154 __UNKNOWN__ __UNKNOWN__ 14 31495625 31495625 __UNKNOWN__ Intron SNP C C T rs179743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31495625C>T ENST00000542754.2 + 1 322 AP4S1_ENST00000216366.4_Intron|AP4S1_ENST00000554609.1_Intron|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554345.1_Intron|AP4S1_ENST00000334725.4_Intron NM_001128126.2|NM_001254728.1 NP_001121598.1|NP_001241657.1 Q9Y587 AP4S1_HUMAN adaptor-related protein complex 4, sigma 1 subunit NA NA coated pit (GO:0005905)|Golgi apparatus (GO:0005794) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) lung(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221) GBM - Glioblastoma multiforme(265;0.00553) GGGGGGGCCTCGGCGGGAGGG 0.662 NA C||| 2252 0.449681 0.4584 0.3761 5008 , , NA 7460 0.5486 NA 0.2634 False NA ,,, NA NA NA 2504 0.5798 NA NA NA Pancreas(128;620 2365 4508 44145) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB030654 CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1 14q12 2012-06-29 ENSG00000100478 ENSG00000100478 11154 575 protein-coding gene gene with protein product 607243 NA 10436028, 21620353 Standard NM_007077 NA Approved CLA20, AP47B, SPG52 uc001wqw.4 Q9Y587 OTTHUMG00000140202 ENST00000542754.2:c.-72+632C>T chr14.hg19:g.31495625C>T NA G3V2N8|Q6IAQ4|Q86U36|Q9BVE7 hg19 CCDS45093.1 0.02 4.225457 CCTxGGC COVERED NOVEL AP4S1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000409723.1 0 18.852881 KEEP 0 0 0 63 1914 CC 1 0.999999 0 + 7 60 231 0 0 14.879498 114 60 3414 252 ENST00000542754.2 0.057851 0.999999 HECTD1 25831 __UNKNOWN__ __UNKNOWN__ 14 31583173 31583173 __UNKNOWN__ Silent SNP G G A rs79640126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31583173G>A ENST00000399332.1 - 32 6254 c.5766C>T c.(5764-5766)gaC>gaT p.D1922D HECTD1_ENST00000553700.1_Silent_p.D1922D NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1922 NA neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GGAAAGCAGCGTCTGCATTCT 0.408 NA G||| 143 0.0285543 0.0 0.0375 5008 , , NA 19860 0.1141 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G 3,3783 0,3,1890 103 92 96 5766 -3.2 0.9 14 dbSNP_131 96 4,8232 0,4,4114 no coding-synonymous HECTD1 NM_015382.2 0,7,6004 AA,AG,GG 0.0486,0.0792,0.0582 1922/2611 31583173 7,12015 1893 4118 6011 SO:0001819 synonymous_variant AB032957 CCDS41939.1 14q12 2013-01-10 2012-02-23 ENSG00000092148 ENSG00000092148 25831 Ankyrin repeat domain containing 20157 protein-coding gene gene with protein product HECT domain containing 1 NA 10574461 Standard XM_005267502 NA Approved KIAA1131 uc001wrc.1 Q9ULT8 OTTHUMG00000170670 ENST00000399332.1:c.5766C>T chr14.hg19:g.31583173G>A NA D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7 hg19 CCDS41939.1 0.02 10.780143 AGCxTCT COVERED 79 0.036172161172161175 0 0.0 11 0.03038674033149171 68 0.11888111888111888 0 0.0 G 6.090 0.384857 0.11524 7.92E-4 4.86E-4 ENSG00000092148 ENST00000554882 . . . 5.69 -3.24 0.05094 . . . . . T 0.01835 0.0058 . . . 0.80722 D 1 . . . . . . T 0.38672 -0.9650 4 . . . -10.0976 14.8396 0.70214 0.6235:0.0:0.3765:0.0 . . . . M 288 . . T - 2 0 HECTD1 30652924 0.948000 0.32251 0.918000 0.36340 0.993000 0.82548 -0.024000 0.12435 -0.985000 0.03503 -0.300000 0.09419 ACG NOVEL HECTD1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409942.1 2 18.055938 KEEP 0 0 0 60 2024 GG 1 1 0 - 9 60 338 0 0 20.979276 260 60 8886 407 ENST00000399332.1 0.033457 1 HECTD1 25831 __UNKNOWN__ __UNKNOWN__ 14 31598248 31598248 __UNKNOWN__ Silent SNP A A G rs17097743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31598248A>G ENST00000399332.1 - 25 4817 c.4329T>C c.(4327-4329)tcT>tcC p.S1443S HECTD1_ENST00000553700.1_Silent_p.S1443S NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1443 Ser-rich. NA neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTGCACTGGAAGATGACCCTA 0.453 NA A||| 616 0.123003 0.0106 0.1066 5008 , , NA 22845 0.1806 NA 0.1064 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 A 138,3778 2,134,1822 144 130 134 4329 0.6 1 14 dbSNP_123 134 1041,7257 58,925,3166 no coding-synonymous HECTD1 NM_015382.2 60,1059,4988 GG,GA,AA 12.5452,3.524,9.6529 1443/2611 31598248 1179,11035 1958 4149 6107 SO:0001819 synonymous_variant AB032957 CCDS41939.1 14q12 2013-01-10 2012-02-23 ENSG00000092148 ENSG00000092148 25831 Ankyrin repeat domain containing 20157 protein-coding gene gene with protein product HECT domain containing 1 NA 10574461 Standard XM_005267502 NA Approved KIAA1131 uc001wrc.1 Q9ULT8 OTTHUMG00000170670 ENST00000399332.1:c.4329T>C chr14.hg19:g.31598248A>G NA D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7 hg19 CCDS41939.1 0.02 20.585952 GGAxGAT COVERED NOVEL HECTD1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409942.1 2 24.6758 KEEP 0 0 0 82 2634 AA 1 1 0 - 18 60 669 0 0 42.372807 450 60 16535 629 ENST00000399332.1 0.038462 1 HECTD1 25831 __UNKNOWN__ __UNKNOWN__ 14 31617880 31617880 __UNKNOWN__ Intron SNP A A C rs11845860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31617880A>C ENST00000399332.1 - 15 2985 HECTD1_ENST00000553700.1_Intron NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 NA NA neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TGAAAATTTAACAAATCAGTA 0.289 NA C||| 1467 0.292931 0.5045 0.1585 5008 , , NA 14497 0.2907 NA 0.1074 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 C 1560,2022 350,860,581 49 44 45 -2 0 14 dbSNP_120 45 1051,7081 61,929,3076 no intron HECTD1 NM_015382.2 411,1789,3657 CC,CA,AA 12.9242,43.5511,22.2896 31617880 2611,9103 1791 4066 5857 SO:0001627 intron_variant AB032957 CCDS41939.1 14q12 2013-01-10 2012-02-23 ENSG00000092148 ENSG00000092148 25831 Ankyrin repeat domain containing 20157 protein-coding gene gene with protein product HECT domain containing 1 NA 10574461 Standard XM_005267502 NA Approved KIAA1131 uc001wrc.1 Q9ULT8 OTTHUMG00000170670 ENST00000399332.1:c.2496+46T>G chr14.hg19:g.31617880A>C NA D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7 hg19 CCDS41939.1 0.02 2.124776 TTAxCAA COVERED NOVEL HECTD1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409942.1 0 4.813845 KEEP 0 0 0 16 495 AA 0.997832 0.997558 0 - 5 60 189 0 0 12.978746 82 60 2886 109 ENST00000399332.1 0.057471 0.999726 HEATR5A 25938 __UNKNOWN__ __UNKNOWN__ 14 31763142 31763142 __UNKNOWN__ Missense_Mutation SNP T T G rs61754460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:31763142T>G ENST00000543095.2 - 35 5972 c.5788A>C c.(5788-5790)Ata>Cta p.I1930L HEATR5A_ENST00000439727.1_Missense_Mutation_p.I1637L|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000389961.3_Missense_Mutation_p.I1924L|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I1849L NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1924 NA breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AAGACCTTTATGCCTTCTTGG 0.373 NA T||| 133 0.0265575 0.0 0.036 5008 , , NA 17663 0.1062 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T LEU/ILE 3,3753 0,3,1875 114 100 105 5788 4.2 1 14 dbSNP_129 105 5,8227 0,5,4111 yes missense HEATR5A NM_015473.3 5 0,8,5986 GG,GT,TT 0.0607,0.0799,0.0667 benign 1930/2047 31763142 8,11980 1878 4116 5994 SO:0001583 missense AB037737 14q12 2012-04-19 2007-01-02 2007-01-02 ENSG00000129493 ENSG00000129493 25938 20276 protein-coding gene gene with protein product chromosome 14 open reading frame 125 C14orf125 NA Standard NM_015473 NM_015473 NA Approved DKFZP434I1735 uc001wrf.4 Q86XA9 OTTHUMG00000169043 ENST00000543095.2:c.5788A>C chr14.hg19:g.31763142T>G ENSP00000437968:p.Ile1930Leu NA Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3 hg19 0.02 16.512377 TTAxGCC COVERED 68 0.031135531135531136 0 0.0 9 0.024861878453038673 59 0.10314685314685315 0 0.0 T 15.50 2.853269 0.51270 7.99E-4 6.07E-4 ENSG00000129493 ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095 T;T;T;T 0.65364 0.09;-0.15;0.09;0.09 5.39 4.25 0.50352 . 0.225856 0.45126 D 0.000394 T 0.02380 0.0073 L 0.54323 1.7 0.80722 D 1 B 0.11235 0.004 B 0.20577 0.03 T 0.09552 -1.0669 10 0.44086 T 0.13 . 8.0859 0.30771 0.0:0.1523:0.0:0.8477 rs61754460 1849 Q86XA9-2 . L 1924;1849;1637;1930 ENSP00000374611:I1924L;ENSP00000405407:I1849L;ENSP00000408681:I1637L;ENSP00000437968:I1930L ENSP00000374611:I1924L I - 1 0 HEATR5A 30832893 0.998000 0.40836 1.000000 0.80357 0.937000 0.57800 1.320000 0.33666 2.047000 0.60756 0.454000 0.30748 ATA NOVEL HEATR5A-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000402061.3 2 17.753719 KEEP 0 0 0 59 1864 TT 1 1 0 - 14 60 545 0 0 34.84779 385 60 14306 577 ENST00000543095.2 0.035088 1 NUBPL 80224 __UNKNOWN__ __UNKNOWN__ 14 32330213 32330213 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:32330213G>A ENST00000281081.7 + 0 2832 NUBPL_ENST00000536705.1_3'UTR NM_001201573.1|NM_001201574.1|NM_025152.2 NP_001188502.1|NP_001188503.1|NP_079428.2 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like NA NA mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584) mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) endometrium(1)|lung(2)|prostate(1)|skin(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) agaattgggcgtggctgtgag 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022722 CCDS41940.1 14q12 2012-10-12 2005-01-07 2005-01-07 ENSG00000151413 ENSG00000151413 80224 Mitochondrial respiratory chain complex assembly factors 20278 protein-coding gene gene with protein product iron-sulfur protein required for NADH dehydrogenase 613621 chromosome 14 open reading frame 127 C14orf127 NA Standard NM_025152 NM_025152 NA Approved FLJ12660, IND1, huInd1 uc001wrk.4 Q8TB37 OTTHUMG00000170521 ENST00000281081.7:c.*1827G>A chr14.hg19:g.32330213G>A NA B4DHZ1|Q86TZ4|Q9H9M2 hg19 CCDS41940.1 0.02 6.220067 GGCxTGG COVERED NOVEL NUBPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409519.1 0 5.718322 KEEP 0 0 0 19 662 GG 0.99986 0.99986 0 + 7 60 244 0 0 14.986094 169 60 5870 237 ENST00000281081.7 0.039773 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 32739018 32739018 __UNKNOWN__ IGR SNP C C T rs58880240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:32739018C>T NA NA RNU6-8 (66543 upstream) : AKAP6 (59460 downstream) NA NA NA CCAGACACAACGGCTAGgaat 0.438 NA -||| 12 0.00239617 0.0 0.0 5008 , , NA 20444 0.0119 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.32739018C>T NA hg19 0.02 28.191042 CAAxGGC COVERED NOVEL 0 3 25.580128 KEEP 84 0 0 85 2922 CC 1 1 0 19 50 706 0 0 41.914137 671 51 23696 1001 0.027536 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 32739189 32739189 __UNKNOWN__ IGR SNP T T C rs61022282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:32739189T>C NA NA RNU6-8 (66714 upstream) : AKAP6 (59289 downstream) NA NA NA tttgcaaaattgaaggggact 0.413 NA -||| 373 0.0744808 0.0325 0.0115 5008 , , NA 20276 0.2341 NA 0.0149 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.32739189T>C NA hg19 0.02 17.836507 AATxGAA COVERED NOVEL 0 4 16.223005 KEEP 3 0 0 54 1679 TT 1 1 0 13 40 456 0 0 25.827238 472 60 17059 623 0.026804 1 AKAP6 9472 __UNKNOWN__ __UNKNOWN__ 14 33014869 33014869 __UNKNOWN__ Missense_Mutation SNP C C T rs3742926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:33014869C>T ENST00000280979.4 + 4 1180 c.1010C>T c.(1009-1011)gCt>gTt p.A337V AKAP6_ENST00000557354.1_Missense_Mutation_p.A337V|AKAP6_ENST00000557272.1_Missense_Mutation_p.A337V NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 337 NA A -> V (in dbSNP:rs3742926). action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315) adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACAAATGCTGCTCAACCCTCC 0.493 NA T||| 881 0.175919 0.233 0.1859 5008 , , NA 20444 0.1815 NA 0.1004 False NA ,,, NA NA NA 2504 0.1636 NA NA NA Melanoma(49;821 1200 7288 13647 42351) NA 0 T VAL/ALA 887,3519 741.1+/-411.2 78,731,1394 73 64 67 1010 -5 0 14 dbSNP_107 67 804,7796 781.9+/-407.6 37,730,3533 yes missense AKAP6 NM_004274.4 64 115,1461,4927 TT,TC,CC 9.3488,20.1316,13.0017 benign 337/2320 33014869 1691,11315 2203 4300 6503 SO:0001583 missense AB002309 CCDS9644.1 14q12 2008-08-11 ENSG00000151320 ENSG00000151320 9472 A-kinase anchor proteins 376 protein-coding gene gene with protein product protein kinase A anchoring protein 6 604691 NA 7721854, 9205841 Standard NM_004274 NM_004274 NA Approved KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6 uc001wrq.3 Q13023 OTTHUMG00000140207 ENST00000280979.4:c.1010C>T chr14.hg19:g.33014869C>T ENSP00000280979:p.Ala337Val NA A7E242|A7E2D4|O15028 hg19 CCDS9644.1 0.02 10.82459 CTGxTCA COVERED 367 0.16804029304029305 121 0.2459349593495935 62 0.1712707182320442 97 0.16958041958041958 87 0.11477572559366754 T 0.013 -1.629818 0.00813 0.201316 0.093488 ENSG00000151320 ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547 T;T;T;T 0.32753 1.44;1.44;1.44;1.44 5.61 -4.96 0.03038 . 1.589520 0.03277 N 0.185626 T 0.00012 0.0000 N 0.16478 0.41 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.29458 -1.0011 9 0.16420 T 0.52 1.892 0.6198 0.00776 0.2906:0.2271:0.3018:0.1805 rs3742926;rs52801792;rs61666772;rs3742926 337;337 A7E242;Q13023 .;AKAP6_HUMAN V 337;337;337;95 ENSP00000280979:A337V;ENSP00000450531:A337V;ENSP00000451247:A337V;ENSP00000451239:A95V ENSP00000280979:A337V A + 2 0 AKAP6 32084620 0.000000 0.05858 0.000000 0.03702 0.021000 0.10359 -0.734000 0.04893 -0.707000 0.05022 -0.254000 0.11334 GCT NOVEL AKAP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276617.2 2 13.544243 KEEP 0 0 0 45 1609 CC 1 1 0 + 11 60 411 0 0 25.906997 287 60 10775 398 ENST00000280979.4 0.036913 1 AKAP6 9472 __UNKNOWN__ __UNKNOWN__ 14 33015082 33015082 __UNKNOWN__ Missense_Mutation SNP A A G rs17099240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:33015082A>G ENST00000280979.4 + 4 1393 c.1223A>G c.(1222-1224)aAt>aGt p.N408S AKAP6_ENST00000557354.1_Missense_Mutation_p.N408S|AKAP6_ENST00000557272.1_Missense_Mutation_p.N408S NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 408 NA N -> S (in dbSNP:rs17099240). action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315) adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGAAAGGCAATGGTGGAAAG 0.428 NA A||| 882 0.176118 0.233 0.1859 5008 , , NA 21639 0.1815 NA 0.1014 False NA ,,, NA NA NA 2504 0.1636 NA NA NA Melanoma(49;821 1200 7288 13647 42351) NA 0 A SER/ASN 878,3526 314.4+/-293.6 79,720,1403 114 121 118 1223 -2.4 0 14 dbSNP_123 118 798,7802 184.2+/-232.2 36,726,3538 yes missense AKAP6 NM_004274.4 46 115,1446,4941 GG,GA,AA 9.2791,19.9364,12.8883 benign 408/2320 33015082 1676,11328 2202 4300 6502 SO:0001583 missense AB002309 CCDS9644.1 14q12 2008-08-11 ENSG00000151320 ENSG00000151320 9472 A-kinase anchor proteins 376 protein-coding gene gene with protein product protein kinase A anchoring protein 6 604691 NA 7721854, 9205841 Standard NM_004274 NM_004274 NA Approved KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6 uc001wrq.3 Q13023 OTTHUMG00000140207 ENST00000280979.4:c.1223A>G chr14.hg19:g.33015082A>G ENSP00000280979:p.Asn408Ser NA A7E242|A7E2D4|O15028 hg19 CCDS9644.1 0.02 15.766696 GCAxTGG COVERED 365 0.1671245421245421 119 0.241869918699187 62 0.1712707182320442 97 0.16958041958041958 87 0.11477572559366754 A 0.001 -2.993308 0.00045 0.199364 0.092791 ENSG00000151320 ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547 T;T;T;T 0.28895 1.59;1.59;1.59;1.59 5.74 -2.42 0.06542 . 1.268580 0.04927 N 0.456042 T 0.00012 0.0000 N 0.01705 -0.755 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.32052 -0.9921 9 0.02654 T 1 3.9669 9.3447 0.38100 0.6165:0.1331:0.2504:0.0 rs17099240;rs52790462;rs56947517;rs17099240 408;408 A7E242;Q13023 .;AKAP6_HUMAN S 408;408;408;166 ENSP00000280979:N408S;ENSP00000450531:N408S;ENSP00000451247:N408S;ENSP00000451239:N166S ENSP00000280979:N408S N + 2 0 AKAP6 32084833 0.001000 0.12720 0.000000 0.03702 0.037000 0.13140 0.358000 0.20216 -0.420000 0.07427 -0.177000 0.13119 AAT NOVEL AKAP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276617.2 1 14.230143 KEEP 0 1 33 59 1811 AA 1 1 0 + 13 60 487 0 0 30.120687 380 60 13762 514 ENST00000280979.4 0.033079 1 EGLN3 112399 __UNKNOWN__ __UNKNOWN__ 14 34394733 34394733 __UNKNOWN__ 3'UTR SNP C C T rs11156819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:34394733C>T ENST00000553215.1 - 0 875 EGLN3_ENST00000250457.3_3'UTR Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545) endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) TCTTTTCAAACCTCCTCCTTT 0.418 NA C||| 1052 0.210064 0.1271 0.2046 5008 , , NA 19232 0.3333 NA 0.1899 False NA ,,, NA NA NA 2504 0.2198 NA NA NA Esophageal Squamous(161;245 1904 13895 22565 30076) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ310545 CCDS9646.1 14q12 2013-08-21 2013-08-21 ENSG00000129521 ENSG00000129521 112399 14661 protein-coding gene gene with protein product HIF prolyl hydroxylase 3 606426 EGL nine (C.elegans) homolog 3, egl nine homolog 3 (C. elegans) NA Standard NM_022073 NA Approved PHD3, HIFPH3 uc001wsa.4 Q9H6Z9 OTTHUMG00000029498 ENST00000553215.1:c.*364G>A chr14.hg19:g.34394733C>T NA Q2TA79|Q3B8N4|Q6P1R2 hg19 0.02 6.981409 AAAxCTC COVERED NOVEL EGLN3-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409485.1 0 7.524568 KEEP 0 0 0 25 899 CC 0.999931 0.999931 0 - 6 60 237 0 0 15.310648 163 60 5954 227 ENST00000553215.1 0.035503 1 EGLN3 112399 __UNKNOWN__ __UNKNOWN__ 14 34420094 34420094 __UNKNOWN__ 5'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:34420094T>C ENST00000250457.3 - 0 193 EGLN3_ENST00000547327.2_5'UTR NM_022073.3 NP_071356.1 Q9H6Z9 EGLN3_HUMAN egl-9 family hypoxia-inducible factor 3 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545) endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1) 15 Breast(36;0.0303)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155) GBM - Glioblastoma multiforme(112;0.0118) Vitamin C(DB00126) CCCGAGCCGCTGCAGCGTCGG 0.657 NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(161;245 1904 13895 22565 30076) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ310545 CCDS9646.1 14q12 2013-08-21 2013-08-21 ENSG00000129521 ENSG00000129521 112399 14661 protein-coding gene gene with protein product HIF prolyl hydroxylase 3 606426 EGL nine (C.elegans) homolog 3, egl nine homolog 3 (C. elegans) NA Standard NM_022073 NA Approved PHD3, HIFPH3 uc001wsa.4 Q9H6Z9 OTTHUMG00000029498 ENST00000250457.3:c.-136A>G chr14.hg19:g.34420094T>C NA Q2TA79|Q3B8N4|Q6P1R2 hg19 CCDS9646.1 0.02 8.25582 CGCxGCA COVERED NOVEL EGLN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276647.1 2 30.087441 KEEP 0 0 0 100 3075 TT 1 1 0 - 9 60 298 0 0 17.541372 227 70 8216 414 ENST00000250457.3 0.038136 1 RP11-85K15.2 0 __UNKNOWN__ __UNKNOWN__ 14 35407778 35407778 __UNKNOWN__ RNA SNP A A G rs8011422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35407778A>G ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA NA NA NA agtgcagcacaatctcggctc 0.602 NA G||| 1556 0.310703 0.3033 0.2839 5008 , , NA 15763 0.37 NA 0.2704 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000556355.1: chr14.hg19:g.35407778A>G NA hg19 0.02 -0.035094 CACxATC UNCOVERED NOVEL RP11-85K15.2-004 KNOWN basic antisense NA processed_transcript OTTHUMT00000410682.2 3 2.407169 KEEP 1 0 0 8 246 AA 0.99257 0.019833 0 - 2 60 79 0 0 7.650132 2 60 72 17 ENST00000556355.1 0.5 0.019982 RP11-85K15.2 0 __UNKNOWN__ __UNKNOWN__ 14 35408648 35408648 __UNKNOWN__ RNA SNP A A G rs28373355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35408648A>G ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA NA NA NA GATAGTCCAGAAGAAGGTGTT 0.488 NA G||| 1528 0.305112 0.2837 0.2824 5008 , , NA 18351 0.37 NA 0.2704 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000556355.1: chr14.hg19:g.35408648A>G NA hg19 0.02 2.215323 CAGxAGA COVERED NOVEL RP11-85K15.2-004 KNOWN basic antisense NA processed_transcript OTTHUMT00000410682.2 1 4.21288 KEEP 0 0 0 14 443 AA 0.995343 0.995112 0 - 5 60 184 0 0 12.452389 83 60 3018 122 ENST00000556355.1 0.056818 0.999768 RP11-85K15.2 0 __UNKNOWN__ __UNKNOWN__ 14 35409214 35409214 __UNKNOWN__ RNA SNP T T C rs1967723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35409214T>C ENST00000556355.1 - 0 257 RP11-85K15.2_ENST00000555015.1_RNA NA NA NA CAACTTCTAATTCATCTCGCC 0.448 NA C||| 1527 0.304912 0.2837 0.2824 5008 , , NA 21625 0.37 NA 0.2704 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000556355.1: chr14.hg19:g.35409214T>C NA hg19 0.02 2.259172 TAAxTCA COVERED NOVEL RP11-85K15.2-004 KNOWN basic antisense NA processed_transcript OTTHUMT00000410682.2 0 4.812925 KEEP 0 0 0 16 490 TT 0.997832 0.99732 0 - 5 60 196 0 0 13.781745 78 60 2846 113 ENST00000556355.1 0.060241 0.999487 SRP54 6729 __UNKNOWN__ __UNKNOWN__ 14 35465784 35465784 __UNKNOWN__ Intron SNP T T A rs2273158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35465784T>A ENST00000556994.1 + 3 364 SRP54_ENST00000216774.6_Intron|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000555535.1_Intron P61011 SRP54_HUMAN signal recognition particle 54kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) TCTTACAGTATCTAAACACTA 0.323 NA T||| 1019 0.203474 0.0514 0.219 5008 , , NA 18674 0.369 NA 0.1839 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86373 CCDS9652.1, CCDS53893.1 14q13.2 2014-06-02 2002-08-29 ENSG00000100883 ENSG00000100883 6729 11301 protein-coding gene gene with protein product 604857 signal recognition particle 54kD NA 8722571 Standard NM_003136 NM_003136 NA Approved uc001wso.3 P61011 OTTHUMG00000140214 ENST00000556994.1:c.-33-99T>A chr14.hg19:g.35465784T>A NA B2R759|B4DUW6|P13624 hg19 CCDS9652.1 0.02 1.971912 GTAxCTA COVERED NOVEL SRP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276643.2 1 4.813113 KEEP 0 0 0 16 470 TT 0.997832 0.997726 0 + 5 60 182 0 0 12.129475 88 60 3151 112 ENST00000556994.1 0.053763 0.999895 SRP54 6729 __UNKNOWN__ __UNKNOWN__ 14 35468893 35468893 __UNKNOWN__ Intron SNP T T A rs12433712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35468893T>A ENST00000556994.1 + 4 567 SRP54_ENST00000216774.6_Intron|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000555535.1_Intron P61011 SRP54_HUMAN signal recognition particle 54kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) AGGCACAGTTTAGTTTAGTTT 0.378 NA A||| 2117 0.422724 0.2761 0.3458 5008 , , NA 15917 0.6786 NA 0.3857 False NA ,,, NA NA NA 2504 0.4499 NA NA NA NA 0 A , 1188,3216 699.8+/-406.5 156,876,1170 69 71 70 , -0.1 0 14 dbSNP_120 70 3210,5390 643.0+/-399.9 567,2076,1657 no intron,intron SRP54 NM_001146282.1,NM_003136.3 , 723,2952,2827 AA,AT,TT 37.3256,26.9755,33.8204 , , 35468893 4398,8606 2202 4300 6502 SO:0001627 intron_variant X86373 CCDS9652.1, CCDS53893.1 14q13.2 2014-06-02 2002-08-29 ENSG00000100883 ENSG00000100883 6729 11301 protein-coding gene gene with protein product 604857 signal recognition particle 54kD NA 8722571 Standard NM_003136 NM_003136 NA Approved uc001wso.3 P61011 OTTHUMG00000140214 ENST00000556994.1:c.170+38T>A chr14.hg19:g.35468893T>A NA B2R759|B4DUW6|P13624 hg19 CCDS9652.1 0.02 6.504121 GTTxAGT COVERED NOVEL SRP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276643.2 2 9.025268 KEEP 0 0 0 30 926 TT 0.999997 0.999997 0 + 6 60 223 0 0 14.139146 149 60 5420 228 ENST00000556994.1 0.03871 1 SRP54 6729 __UNKNOWN__ __UNKNOWN__ 14 35470049 35470049 __UNKNOWN__ Intron SNP G G A rs8017225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35470049G>A ENST00000556994.1 + 5 567 SRP54_ENST00000216774.6_Intron|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000555535.1_Intron P61011 SRP54_HUMAN signal recognition particle 54kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) ATGACTGAATGTTGTACATTC 0.353 NA G||| 1180 0.235623 0.1452 0.2334 5008 , , NA 14506 0.369 NA 0.2068 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X86373 CCDS9652.1, CCDS53893.1 14q13.2 2014-06-02 2002-08-29 ENSG00000100883 ENSG00000100883 6729 11301 protein-coding gene gene with protein product 604857 signal recognition particle 54kD NA 8722571 Standard NM_003136 NM_003136 NA Approved uc001wso.3 P61011 OTTHUMG00000140214 ENST00000556994.1:c.171-93G>A chr14.hg19:g.35470049G>A NA B2R759|B4DUW6|P13624 hg19 CCDS9652.1 0.02 26.651511 AATxTTG COVERED NOVEL SRP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276643.2 2 7.593402 KEEP 0 2 59 46 1612 GG 1 1 0 + 30 60 1067 1 0 68.554216 606 60 23034 758 ENST00000556994.1 0.04717 1 SRP54 6729 __UNKNOWN__ __UNKNOWN__ 14 35488309 35488309 __UNKNOWN__ Intron SNP A A G rs17102982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35488309A>G ENST00000556994.1 + 14 1553 SRP54_ENST00000216774.6_Intron|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000546080.1_Intron P61011 SRP54_HUMAN signal recognition particle 54kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) TTCCTCAGGCAaaaatgttct 0.343 NA a||| 2053 0.409944 0.2746 0.3372 5008 , , NA 19355 0.6786 NA 0.3579 False NA ,,, NA NA NA 2504 0.4213 NA NA NA NA 0 A , 1154,3252 154,846,1203 49 48 49 , -4.2 0 14 dbSNP_123 49 2896,5702 469,1958,1872 no intron,intron SRP54 NM_001146282.1,NM_003136.3 , 623,2804,3075 GG,GA,AA 33.6823,26.1916,31.1443 , , 35488309 4050,8954 2203 4299 6502 SO:0001627 intron_variant X86373 CCDS9652.1, CCDS53893.1 14q13.2 2014-06-02 2002-08-29 ENSG00000100883 ENSG00000100883 6729 11301 protein-coding gene gene with protein product 604857 signal recognition particle 54kD NA 8722571 Standard NM_003136 NM_003136 NA Approved uc001wso.3 P61011 OTTHUMG00000140214 ENST00000556994.1:c.1156+29A>G chr14.hg19:g.35488309A>G NA B2R759|B4DUW6|P13624 hg19 CCDS9652.1 0.02 2.071555 GGCxAAA COVERED NOVEL SRP54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276643.2 2 3.909913 KEEP 0 0 0 13 375 AA 0.994391 0.994286 0 + 5 60 189 0 0 12.828076 88 60 3181 112 ENST00000556994.1 0.053763 0.999895 PPP2R3C 55012 __UNKNOWN__ __UNKNOWN__ 14 35591174 35591174 __UNKNOWN__ 5'UTR SNP T T C rs1056879|rs202166470 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35591174T>C ENST00000261475.5 - 0 345 PPP2R3C_ENST00000555644.1_5'UTR|KIAA0391_ENST00000603588.1_3'UTR NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma NA NA activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634) calcium ion binding (GO:0005509) central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) ATGGCCGACTTCCGCGCAGCA 0.612 NA C||| 2035 0.40635 0.4894 0.3314 5008 , , NA 18002 0.3909 NA 0.3151 False NA ,,, NA NA NA 2504 0.4571 NA NA NA NA 0 C 1968,2438 618.8+/-393.2 430,1108,665 82 75 78 1.4 0.1 14 dbSNP_86 78 2981,5619 665.8+/-402.3 530,1921,1849 no utr-5 PPP2R3C NM_017917.2 960,3029,2514 CC,CT,TT 34.6628,44.6664,38.0517 35591174 4949,8057 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK000651 CCDS9654.1 14q13.2 2010-06-18 2010-06-18 2007-01-22 ENSG00000092020 ENSG00000092020 55012 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 17485 protein-coding gene gene with protein product 615902 chromosome 14 open reading frame 10, protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma C14orf10 NA 12167160, 16129705 Standard NM_017917 NM_017917 NA Approved FLJ20644, G4-1, G5PR uc001wss.3 Q969Q6 OTTHUMG00000140224 ENST00000261475.5:c.-9A>G chr14.hg19:g.35591174T>C NA B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9 hg19 CCDS9654.1 0.02 37.021732 ACTxCCG COVERED NOVEL PPP2R3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276687.1 4 82.746537 KEEP 0 6 221 352 10849 TT 1 1 0 - 62 60 2293 0 0 164.582688 735 60 26101 1474 ENST00000261475.5 0.077792 1 PPP2R3C 55012 __UNKNOWN__ __UNKNOWN__ 14 35591316 35591316 __UNKNOWN__ 5'UTR SNP G G A rs28365850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35591316G>A ENST00000261475.5 - 0 203 PPP2R3C_ENST00000555644.1_5'UTR|KIAA0391_ENST00000603588.1_Intron NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma NA NA activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634) calcium ion binding (GO:0005509) central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) GGCTAAAGAGGCAAAAACAAT 0.537 NA G||| 1037 0.207069 0.1188 0.2075 5008 , , NA 19311 0.3552 NA 0.162 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK000651 CCDS9654.1 14q13.2 2010-06-18 2010-06-18 2007-01-22 ENSG00000092020 ENSG00000092020 55012 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 17485 protein-coding gene gene with protein product 615902 chromosome 14 open reading frame 10, protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma C14orf10 NA 12167160, 16129705 Standard NM_017917 NM_017917 NA Approved FLJ20644, G4-1, G5PR uc001wss.3 Q969Q6 OTTHUMG00000140224 ENST00000261475.5:c.-151C>T chr14.hg19:g.35591316G>A NA B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9 hg19 CCDS9654.1 0.02 18.823075 GAGxCAA COVERED NOVEL PPP2R3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276687.1 4 25.182992 KEEP 0 4 114 124 4370 GG 1 1 0 - 42 60 1463 0 0 105.629242 411 60 15141 642 ENST00000261475.5 0.092715 1 KIAA0391 9692 __UNKNOWN__ __UNKNOWN__ 14 35592538 35592538 __UNKNOWN__ Silent SNP C C G rs941653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35592538C>G ENST00000557565.1 + 2 468 c.87C>G c.(85-87)gtC>gtG p.V29V KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000534898.4_Silent_p.V29V|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Silent_p.V29V|KIAA0391_ENST00000321130.10_Silent_p.V29V NM_001282234.1 NP_001269163.1 O15091 MRRP3_HUMAN KIAA0391 29 NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) ACTCTTATGTCTCGCTGTTTC 0.463 NA C||| 1211 0.241813 0.2474 0.2118 5008 , , NA 18602 0.3542 NA 0.165 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 C 939,3467 358.9+/-314.6 97,745,1361 61 55 57 87 -1.5 0 14 dbSNP_86 57 1460,7140 277.9+/-293.1 128,1204,2968 no coding-synonymous KIAA0391 NM_014672.2 225,1949,4329 GG,GC,CC 16.9767,21.3118,18.4453 29/584 35592538 2399,10607 2203 4300 6503 SO:0001819 synonymous_variant AB002389 CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1 14q13.2 2013-06-18 ENSG00000100890 ENSG00000100890 9692 19958 protein-coding gene gene with protein product mitochondrial RNase P subunit 3, proteinaceous RNase P 609947 NA 9205841, 18984158 Standard NM_014672 NM_001256678 NA Approved MRPP3, PRORP uc001wsy.2 O15091 ENST00000557565.1:c.87C>G chr14.hg19:g.35592538C>G NA B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5 hg19 CCDS32063.1 0.02 12.694901 TGTxTCG COVERED NOVEL KIAA0391-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000411280.1 2 26.550206 KEEP 0 2 62 110 3800 CC 1 1 0 + 26 60 1034 0 0 78.789636 241 60 9111 468 ENST00000557565.1 0.097378 1 KIAA0391 9692 __UNKNOWN__ __UNKNOWN__ 14 35626997 35626997 __UNKNOWN__ Intron SNP T T C rs7159324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35626997T>C ENST00000557565.1 + 5 1548 KIAA0391_ENST00000250377.7_Intron|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000534898.4_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Intron|KIAA0391_ENST00000321130.10_Intron NM_001282234.1 NP_001269163.1 O15091 MRRP3_HUMAN KIAA0391 NA NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTAAATCTATCACTATGG 0.308 NA T||| 1197 0.239018 0.2587 0.2176 5008 , , NA 20565 0.3512 NA 0.166 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002389 CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1 14q13.2 2013-06-18 ENSG00000100890 ENSG00000100890 9692 19958 protein-coding gene gene with protein product mitochondrial RNase P subunit 3, proteinaceous RNase P 609947 NA 9205841, 18984158 Standard NM_014672 NM_001256678 NA Approved MRPP3, PRORP uc001wsy.2 O15091 ENST00000557565.1:c.1168-22879T>C chr14.hg19:g.35626997T>C NA B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5 hg19 CCDS32063.1 0.02 10.283994 ATCxATC COVERED NOVEL KIAA0391-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000411280.1 1 14.744935 KEEP 0 0 0 49 1574 TT 1 1 0 + 21 60 789 0 0 58.657827 203 60 7591 357 ENST00000557565.1 0.09375 1 KIAA0391 9692 __UNKNOWN__ __UNKNOWN__ 14 35761675 35761675 __UNKNOWN__ Intron SNP C C G rs1048990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35761675C>G ENST00000557565.1 + 9 3024 PSMA6_ENST00000553809.1_5'UTR|PSMA6_ENST00000540871.1_Intron|PSMA6_ENST00000261479.4_5'UTR|PSMA6_ENST00000555764.1_5'UTR NM_001282234.1 NP_001269163.1 O15091 MRRP3_HUMAN KIAA0391 NA NA tRNA processing (GO:0008033) mitochondrion (GO:0005739) central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) AGTAGTGCTTCTACCAACATG 0.577 NA C||| 953 0.190296 0.0318 0.2046 5008 , , NA 18291 0.37 NA 0.164 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 GRCh37 CR063412 PSMA6 R rs1048990 C 239,4167 140.4+/-175.9 10,219,1974 106 102 103 http://www.ncbi.nlm.nih.gov/sites/varvu?gene -3.6 0 14 dbSNP_86 103 1464,7136 278.9+/-293.6 125,1214,2961 no utr-5 PSMA6 NM_002791.1 135,1433,4935 GG,GC,CC 17.0233,5.4244,13.094 35761675 1703,11303 2203 4300 6503 SO:0001627 intron_variant AB002389 CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1 14q13.2 2013-06-18 ENSG00000100890 ENSG00000100890 9692 19958 protein-coding gene gene with protein product mitochondrial RNase P subunit 3, proteinaceous RNase P 609947 NA 9205841, 18984158 Standard NM_014672 NM_001256678 NA Approved MRPP3, PRORP uc001wsy.2 O15091 ENST00000557565.1:c.1749+13751C>G chr14.hg19:g.35761675C>G NA B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5 hg19 CCDS32063.1 0.02 4.890222 CTTxTAC COVERED NOVEL KIAA0391-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000411280.1 0 12.639128 KEEP 0 0 0 42 1370 CC 1 1 0 + 19 60 720 0 0 57.246099 116 60 4340 185 ENST00000557565.1 0.140741 1 NFKBIA 4792 __UNKNOWN__ __UNKNOWN__ 14 35870798 35870798 __UNKNOWN__ 3'UTR SNP C C T rs2273650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:35870798C>T ENST00000557140.1 - 0 1347 NFKBIA_ENST00000557389.1_3'UTR|NFKBIA_ENST00000216797.5_3'UTR P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha NA NA apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886) enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625) breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) Acetylsalicylic acid(DB00945) ACACCATTTACAGGAGGGTAA 0.358 NA C||| 367 0.0732827 0.0 0.0173 5008 , , NA 20444 0.2679 NA 0.005 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9656.1 14q13 2014-09-17 ENSG00000100906 ENSG00000100906 4792 Ankyrin repeat domain containing 7797 protein-coding gene gene with protein product 164008 NFKBI NA 1829648 Standard NM_020529 NM_020529 NA Approved IKBA, MAD-3, IkappaBalpha uc001wtf.4 P25963 OTTHUMG00000140220 ENST00000557140.1:c.*421G>A chr14.hg19:g.35870798C>T NA B2R8L6 hg19 0.02 4.492782 TTAxAGG COVERED NOVEL NFKBIA-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411491.1 2 24.378014 KEEP 0 0 0 81 2826 CC 1 0.999995 0 - 8 60 298 0 0 21.103567 104 60 3823 238 ENST00000557140.1 0.071429 0.999995 RALGAPA1 253959 __UNKNOWN__ __UNKNOWN__ 14 36104841 36104841 __UNKNOWN__ Intron SNP A A C rs79683035 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:36104841A>C ENST00000382366.3 - 32 4296 RALGAPA1_ENST00000389698.3_Intron|RALGAPA1_ENST00000258840.6_Intron|RALGAPA1_ENST00000307138.6_Intron NM_001283043.1 NP_001269972.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTGTACATTCATAAAATATAT 0.318 NA A||| 323 0.0644968 0.059 0.0086 5008 , , NA 17298 0.0645 NA 0.001 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 A , 223,4181 8,207,1987 24 22 23 , 2.8 0 14 dbSNP_132 23 17,8575 0,17,4279 no intron,intron RALGAPA1 NM_014990.1,NM_194301.2 , 8,224,6266 CC,CA,AA 0.1979,5.0636,1.8467 , , 36104841 240,12756 2202 4296 6498 SO:0001627 intron_variant AK126975 CCDS32064.1, CCDS32065.1, CCDS61439.1 14q13.2 2012-01-26 2009-09-09 2009-09-09 ENSG00000174373 ENSG00000174373 253959 17770 protein-coding gene gene with protein product tuberin-like protein 1, GAP-related interacting protein to E12 608884 GTPase activating RANGAP domain-like 1, GTPase activating Rap/RanGAP domain-like 1 GARNL1 NA 19520869 Standard XM_210022 NM_014990 NA Approved GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1 uc001wtj.3 Q6GYQ0 OTTHUMG00000170619 ENST00000382366.3:c.4198-37T>G chr14.hg19:g.36104841A>C NA A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69 hg19 0.02 4.692505 TTCxTAA COVERED NOVEL RALGAPA1-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409830.1 0 5.717335 KEEP 0 0 0 19 598 AA 0.99986 0.999854 0 - 5 60 194 0 0 12.914152 107 60 3983 153 ENST00000382366.3 0.044643 0.999995 RP11-116N8.1 0 __UNKNOWN__ __UNKNOWN__ 14 36401277 36401277 __UNKNOWN__ RNA SNP G G A rs544149872 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:36401277G>A ENST00000550089.1 + 0 242 NA NA NA ATAACTTTTCGCCAGAACTAT 0.353 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 18229 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000550089.1: chr14.hg19:g.36401277G>A NA hg19 0.02 4.207344 TTCxCCA COVERED NOVEL RP11-116N8.1-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000409615.1 0 4.514169 KEEP 0 0 0 15 511 GG 0.99649 0.996489 0 + 6 60 220 0 0 14.503361 115 60 3777 157 ENST00000550089.1 0.049587 0.999999 PAX9 5083 __UNKNOWN__ __UNKNOWN__ 14 37131993 37131993 __UNKNOWN__ Intron SNP G G C rs12883298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:37131993G>C ENST00000361487.6 + 2 229 PAX9_ENST00000402703.2_Intron|PAX9_ENST00000554201.1_5'UTR P55771 PAX9_HUMAN paired box 9 NA NA cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481) nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) GTAGTTAGTAGGGGACGGGTG 0.642 NA C||| 2765 0.552117 0.3986 0.4179 5008 , , NA 16614 0.749 NA 0.6014 False NA ,,, NA NA NA 2504 0.6012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ238381 CCDS9662.1 14q13.3 2007-07-12 2007-07-12 ENSG00000198807 ENSG00000198807 5083 Paired boxes 8623 protein-coding gene gene with protein product 167416 paired box gene 9 NA 7981748 Standard NM_006194 NA Approved uc001wty.4 P55771 OTTHUMG00000140251 ENST00000361487.6:c.5-109G>C chr14.hg19:g.37131993G>C NA Q99582|Q9UQR4 hg19 CCDS9662.1 0.02 6.803504 GTAxGGG COVERED NOVEL PAX9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276733.2 1 5.116788 KEEP 0 0 0 17 611 GG 0.999366 0.999366 0 + 6 60 215 0 0 13.34544 149 60 5514 188 ENST00000361487.6 0.03871 1 PAX9 5083 __UNKNOWN__ __UNKNOWN__ 14 37135753 37135753 __UNKNOWN__ Missense_Mutation SNP G G C rs4904210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:37135753G>C ENST00000361487.6 + 3 943 c.718G>C c.(718-720)Gcg>Ccg p.A240P PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.A240P|PAX9_ENST00000554201.1_Missense_Mutation_p.A53P P55771 PAX9_HUMAN paired box 9 240 NA A -> P (in dbSNP:rs4904210). cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481) nucleus (GO:0005634) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3) 12 Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218) Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189) GBM - Glioblastoma multiforme(112;0.0181) CGCCCCGCACGCGGTGAACGG 0.687 NA G||| 1661 0.331669 0.2126 0.2738 5008 , , NA 13955 0.4315 NA 0.3519 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 G PRO/ALA 995,3369 114,767,1301 21 14 16 718 3.4 1 14 dbSNP_111 16 3097,5459 592,1913,1773 yes missense PAX9 NM_006194.3 27 706,2680,3074 CC,CG,GG 36.1968,22.8002,31.6718 benign 240/342 37135753 4092,8828 2182 4278 6460 SO:0001583 missense AJ238381 CCDS9662.1 14q13.3 2007-07-12 2007-07-12 ENSG00000198807 ENSG00000198807 5083 Paired boxes 8623 protein-coding gene gene with protein product 167416 paired box gene 9 NA 7981748 Standard NM_006194 NA Approved uc001wty.4 P55771 OTTHUMG00000140251 ENST00000361487.6:c.718G>C chr14.hg19:g.37135753G>C ENSP00000355245:p.Ala240Pro NA Q99582|Q9UQR4 hg19 CCDS9662.1 0.02 4.631375 CACxCGG COVERED 749 0.34294871794871795 114 0.23170731707317074 118 0.3259668508287293 245 0.42832167832167833 272 0.35883905013192613 G 11.49 1.653459 0.29425 0.228002 0.361968 ENSG00000198807 ENST00000402703;ENST00000361487;ENST00000554201;ENST00000543853 D;D;T 0.98968 -5.28;-5.28;0.74 5.33 3.38 0.38709 . 0.350029 0.32548 N 0.005950 T 0.00012 0.0000 L 0.34521 1.04 0.39677 P 0.029159000000000046 B 0.02656 0.0 B 0.01281 0.0 T 0.00286 -1.1847 9 0.49607 T 0.09 . 12.5398 0.56163 0.073:0.1277:0.7993:0.0 rs4904210 240 P55771 PAX9_HUMAN P 240;240;53;29 ENSP00000384817:A240P;ENSP00000355245:A240P;ENSP00000450434:A53P ENSP00000355245:A240P A + 1 0 PAX9 36205504 0.995000 0.38212 0.997000 0.53966 0.279000 0.26890 1.970000 0.40520 1.266000 0.44231 -0.221000 0.12465 GCG NOVEL PAX9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276733.2 3 2.242343 KEEP 0 1 33 19 659 GG 0.999863 0.999861 0 + 8 60 274 0 0 18.491227 111 60 3816 166 ENST00000361487.6 0.067227 0.999998 SLC25A21 89874 __UNKNOWN__ __UNKNOWN__ 14 37353480 37353480 __UNKNOWN__ Intron SNP C C T rs79067276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:37353480C>T ENST00000331299.5 - 2 586 SLC25A21_ENST00000555449.1_Intron|SLC25A21_ENST00000557611.1_Intron NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 NA NA cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) cttagcatgacgtcctctggg 0.378 NA C||| 365 0.0728834 0.112 0.1009 5008 , , NA 21845 0.1002 NA 0.0288 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ278148 CCDS9663.1, CCDS55913.1 14q13.3 2014-01-28 2012-03-29 ENSG00000183032 ENSG00000183032 89874 Solute carriers 14411 protein-coding gene gene with protein product 607571 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 NA 11083877 Standard NM_030631 NM_030631 NA Approved ODC1, ODC uc001wtz.2 Q9BQT8 OTTHUMG00000140250 ENST00000331299.5:c.71-9271G>A chr14.hg19:g.37353480C>T NA A8K0L0|G3V4L5|Q3MJ99 hg19 CCDS9663.1 0.02 -0.263168 TGAxGTC COVERED NOVEL SLC25A21-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276732.2 0 3.0096 KEEP 0 0 0 10 344 CC 0.992708 0.68861 0 - 3 60 114 0 0 8.596607 27 60 978 53 ENST00000331299.5 0.1 0.693668 SSTR1 6751 __UNKNOWN__ __UNKNOWN__ 14 38678356 38678356 __UNKNOWN__ 5'UTR SNP G G A rs12437095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:38678356G>A ENST00000267377.2 + 0 379 NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 NA NA cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104)|Pasireotide(DB06663) TCCTCTCCACGGTCGCCTGTG 0.687 NA G||| 1610 0.321486 0.23 0.2781 5008 , , NA 12097 0.4375 NA 0.2972 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS9666.1 14q13 2012-08-08 ENSG00000139874 ENSG00000139874 6751 GPCR / Class A : Somatostatin receptors 11330 protein-coding gene gene with protein product 182451 NA 8449518 Standard NM_001049 NA Approved uc001wul.1 P30872 OTTHUMG00000140249 ENST00000267377.2:c.-239G>A chr14.hg19:g.38678356G>A NA hg19 CCDS9666.1 0.02 -0.350888 CACxGTC COVERED NOVEL SSTR1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409930.2 0 2.70874 KEEP 0 0 0 9 311 GG 0.99254 0.87116 0 + 4 60 144 0 0 10.662506 36 60 1221 60 ENST00000267377.2 0.1 0.877708 SSTR1 6751 __UNKNOWN__ __UNKNOWN__ 14 38681113 38681113 __UNKNOWN__ 3'UTR SNP G G A rs1135473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:38681113G>A ENST00000267377.2 + 0 3136 NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 NA NA cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104)|Pasireotide(DB06663) CCTGGGGGCGGGCATGGAAGT 0.502 NA G||| 982 0.196086 0.1331 0.1542 5008 , , NA 12833 0.371 NA 0.1431 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9666.1 14q13 2012-08-08 ENSG00000139874 ENSG00000139874 6751 GPCR / Class A : Somatostatin receptors 11330 protein-coding gene gene with protein product 182451 NA 8449518 Standard NM_001049 NA Approved uc001wul.1 P30872 OTTHUMG00000140249 ENST00000267377.2:c.*1343G>A chr14.hg19:g.38681113G>A NA hg19 CCDS9666.1 0.02 4.619692 GCGxGCA COVERED NOVEL SSTR1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409930.2 0 3.913022 KEEP 0 0 0 13 485 GG 0.994391 0.994383 0 + 5 60 186 0 0 12.17706 104 60 3746 138 ENST00000267377.2 0.045872 0.999992 CLEC14A 161198 __UNKNOWN__ __UNKNOWN__ 14 38724322 38724322 __UNKNOWN__ Silent SNP G G A rs371729454 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:38724322G>A ENST00000342213.2 - 1 1252 c.906C>T c.(904-906)ccC>ccT p.P302P NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 302 NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) p.P302P(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GGCGCCTGGTGGGCACCCCGG 0.662 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) ovary(1) 42 47 46 NA NA 14 NA 38724322 2202 4295 6497 SO:0001819 synonymous_variant CCDS9667.1 14q21.1 2010-04-27 2005-02-11 2005-02-11 ENSG00000176435 ENSG00000176435 161198 C-type lectin domain containing 19832 protein-coding gene gene with protein product chromosome 14 open reading frame 27 C14orf27 NA Standard NM_175060 NM_175060 NA Approved uc001wum.2 Q86T13 OTTHUMG00000140248 ENST00000342213.2:c.906C>T chr14.hg19:g.38724322G>A NA Q695G9|Q6PWT6|Q8N5V5 hg19 CCDS9667.1 0.02 10.188331 GGTxGGC COVERED NOVEL CLEC14A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276729.1 2 16.251819 KEEP 0 0 0 54 1861 GG 1 1 0 - 10 60 321 0 0 18.111737 281 60 9892 423 ENST00000342213.2 0.034364 1 PNN 5411 __UNKNOWN__ __UNKNOWN__ 14 39647188 39647188 __UNKNOWN__ Intron SNP T T A rs68193573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:39647188T>A ENST00000216832.4 + 6 565 PNN_ENST00000553331.1_Intron NM_002687.3 NP_002678 Q9H307 PININ_HUMAN pinin, desmosome associated protein NA NA cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198) breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) ATGTTTTTTTTAAAAAATCCT 0.274 NA t||| 1233 0.246206 0.0711 0.2824 5008 , , NA 16587 0.2996 NA 0.3559 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U77718 CCDS9671.1 14q21.1 2010-07-02 ENSG00000100941 ENSG00000100941 5411 9162 protein-coding gene gene with protein product 603154 NA 8922384 Standard NM_002687 NM_002687 NA Approved memA uc001wuw.4 Q9H307 OTTHUMG00000028821 ENST00000216832.4:c.498+68T>A chr14.hg19:g.39647188T>A NA B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9 hg19 CCDS9671.1 0.02 5.689349 TTTxAAA COVERED NOVEL PNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276776.2 1 7.822524 KEEP 0 0 0 26 797 TT 0.999957 0.999957 0 + 7 60 247 0 0 15.63965 149 70 5203 187 ENST00000216832.4 0.044872 1 RP11-305B6.3 0 __UNKNOWN__ __UNKNOWN__ 14 44716450 44716450 __UNKNOWN__ lincRNA SNP G G A rs62011045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:44716450G>A ENST00000553827.1 - 0 69 NA NA NA TGCAGCACTTGAATCAATAAA 0.318 NA G||| 734 0.146565 0.1657 0.0476 5008 , , NA 13522 0.3204 NA 0.0398 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000553827.1: chr14.hg19:g.44716450G>A NA hg19 0.02 3.593013 CTTxAAT COVERED NOVEL RP11-305B6.3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000410013.1 1 5.718784 KEEP 0 0 0 19 685 GG 0.99986 0.99986 0 - 10 60 334 0 0 22.704319 125 60 4811 174 ENST00000553827.1 0.074074 1 FSCB 84075 __UNKNOWN__ __UNKNOWN__ 14 44973638 44973638 __UNKNOWN__ 3'UTR SNP C C T rs412408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:44973638C>T ENST00000340446.4 - 0 2844 NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein NA NA sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228) calcium ion binding (GO:0005509) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGCTACTTCCCGCTGCCCACC 0.398 NA C||| 2206 0.440495 0.4743 0.3977 5008 , , NA 16570 0.3879 NA 0.4553 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK124110 CCDS9679.1 14q21.3 2007-11-22 2007-11-22 2007-11-22 ENSG00000189139 ENSG00000189139 84075 20494 protein-coding gene gene with protein product 611779 chromosome 14 open reading frame 155 C14orf155 NA 17855365 Standard NM_032135 NM_032135 NA Approved DKFZP434F1017 uc001wvn.3 Q5H9T9 OTTHUMG00000140262 ENST00000340446.4:c.*75G>A chr14.hg19:g.44973638C>T NA Q5H9U7|Q86YI2|Q9H0J3 hg19 CCDS9679.1 0.02 6.823038 TCCxGCT COVERED NOVEL FSCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276788.1 1 7.223177 KEEP 0 0 0 24 814 CC 0.999909 0.999909 0 - 14 60 485 0 0 34.909205 139 60 4676 202 ENST00000340446.4 0.091503 1 FSCB 84075 __UNKNOWN__ __UNKNOWN__ 14 44975510 44975510 __UNKNOWN__ Silent SNP C C T rs372153461|rs3809430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:44975510C>T ENST00000340446.4 - 1 972 c.681G>A c.(679-681)ccG>ccA p.P227P NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 227 NA sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228) calcium ion binding (GO:0005509) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CTAAAAGTACCGGGGGACCTT 0.403 NA C||| 1625 0.324481 0.2284 0.33 5008 , , NA 18394 0.3859 NA 0.3479 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 C 1065,3341 384.9+/-325.5 131,803,1269 96 99 98 681 -8.2 0 14 dbSNP_107 98 3204,5396 484.5+/-371.4 627,1950,1723 no coding-synonymous FSCB NM_032135.3 758,2753,2992 TT,TC,CC 37.2558,24.1716,32.8233 227/826 44975510 4269,8737 2203 4300 6503 SO:0001819 synonymous_variant AK124110 CCDS9679.1 14q21.3 2007-11-22 2007-11-22 2007-11-22 ENSG00000189139 ENSG00000189139 84075 20494 protein-coding gene gene with protein product 611779 chromosome 14 open reading frame 155 C14orf155 NA 17855365 Standard NM_032135 NM_032135 NA Approved DKFZP434F1017 uc001wvn.3 Q5H9T9 OTTHUMG00000140262 ENST00000340446.4:c.681G>A chr14.hg19:g.44975510C>T NA Q5H9U7|Q86YI2|Q9H0J3 hg19 CCDS9679.1 0.02 6.769806 TACxGGG COVERED NOVEL FSCB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276788.1 4 8.427052 KEEP 0 0 0 28 953 CC 0.999997 0.999997 0 - 14 60 525 0 0 37.379034 179 60 6383 240 ENST00000340446.4 0.072539 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 45973209 45973209 __UNKNOWN__ IGR SNP G G A rs151116155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:45973209G>A NA NA RP11-454K7.1 (114720 upstream) : RP11-945F5.1 (63988 downstream) NA NA NA TCAATATGTCGTCCTTTGGCA 0.358 NA G||| 63 0.0125799 0.0008 0.0029 5008 , , NA 18232 0.0575 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.45973209G>A NA hg19 0.02 14.952706 GTCxTCC COVERED NOVEL 0 5 10.231881 KEEP 0 0 0 34 1161 GG 0.999998 0.999998 0 10 60 367 0 0 21.494603 362 60 12858 485 0.026882 1 MDGA2 161357 __UNKNOWN__ __UNKNOWN__ 14 47577759 47577759 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:47577759C>T ENST00000399232.2 - 6 1083 MDGA2_ENST00000426342.1_Intron|MDGA2_ENST00000357362.3_Intron|MDGA2_ENST00000439988.3_Intron NM_001113498.2 NP_001106970.3 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 NA NA pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 ccactgagcaccttgcgaccc 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AI859192 CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3 14q21.2 2013-01-29 2007-04-03 2007-04-03 ENSG00000139915 ENSG00000139915 161357 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19835 protein-coding gene gene with protein product 611128 MAM domain containing 1 MAMDC1 NA 15019943 Standard NM_182830 NM_001113498 NA Approved uc001wwj.4 Q7Z553 OTTHUMG00000029429 ENST00000399232.2:c.719-11433G>A chr14.hg19:g.47577759C>T NA F6W3S7|J3KPX6 hg19 0.02 -0.078962 GCAxCTT UNCOVERED NOVEL MDGA2-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000073352.5 1 2.708894 KEEP 12 0 0 9 324 CC 0 0 0 - 2 20 79 0 0 6.783863 7 40 273 31 ENST00000399232.2 0.222222 0.077336 MDGA2 161357 __UNKNOWN__ __UNKNOWN__ 14 47812374 47812374 __UNKNOWN__ Intron SNP T T A rs7161720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:47812374T>A ENST00000399232.2 - 2 438 MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000439988.3_Intron NM_001113498.2 NP_001106970.3 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 NA NA pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTTCCACTTATCATTCTGGTA 0.368 NA T||| 393 0.0784744 0.1498 0.0187 5008 , , NA 20868 0.1429 NA 0.004 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AI859192 CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3 14q21.2 2013-01-29 2007-04-03 2007-04-03 ENSG00000139915 ENSG00000139915 161357 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19835 protein-coding gene gene with protein product 611128 MAM domain containing 1 MAMDC1 NA 15019943 Standard NM_182830 NM_001113498 NA Approved uc001wwj.4 Q7Z553 OTTHUMG00000029429 ENST00000399232.2:c.74-41621A>T chr14.hg19:g.47812374T>A NA F6W3S7|J3KPX6 hg19 0.02 21.497908 TTAxCAT COVERED NOVEL MDGA2-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000073352.5 3 16.551088 KEEP 0 0 0 55 1772 TT 1 1 0 - 20 60 713 0 0 44.214668 491 60 17894 689 ENST00000399232.2 0.039139 1 MDGA2 161357 __UNKNOWN__ __UNKNOWN__ 14 48143852 48143852 __UNKNOWN__ 5'UTR SNP C C T rs78711719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:48143852C>T ENST00000399232.2 - 0 305 MDGA2_ENST00000439988.3_Missense_Mutation_p.G50S NM_001113498.2 NP_001106970.3 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 NA NA pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTCAGGAGGCCGGCGGCCAGC 0.662 NA C||| 367 0.0732827 0.0061 0.0014 5008 , , NA 10010 0.2192 NA 0.005 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 C SER/GLY 5,1379 0,5,687 81 73 75 148 2.8 1 14 dbSNP_131 75 3,3179 0,3,1588 yes missense MDGA2 NM_001113498.2 56 0,8,2275 TT,TC,CC 0.0943,0.3613,0.1752 50/1026 48143852 8,4558 692 1591 2283 SO:0001623 5_prime_UTR_variant AI859192 CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3 14q21.2 2013-01-29 2007-04-03 2007-04-03 ENSG00000139915 ENSG00000139915 161357 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 19835 protein-coding gene gene with protein product 611128 MAM domain containing 1 MAMDC1 NA 15019943 Standard NM_182830 NM_001113498 NA Approved uc001wwj.4 Q7Z553 OTTHUMG00000029429 ENST00000399232.2:c.-60G>A chr14.hg19:g.48143852C>T NA F6W3S7|J3KPX6 hg19 0.02 12.591827 GGCxGGC COVERED 126 0.057692307692307696 2 0.0040650406504065045 1 0.0027624309392265192 118 0.2062937062937063 5 0.006596306068601583 C 13.18 2.160594 0.38119 0.003613 9.43E-4 ENSG00000139915 ENST00000399232 T 0.66099 -0.19 4.68 2.83 0.33086 . . . . . T 0.00073 0.0002 . . . 0.09310 P 0.9999999999795112 . . . . . . T 0.06881 -1.0802 4 . . . . 7.633 0.28251 0.0:0.7199:0.1849:0.0953 . . . . S 50 ENSP00000382178:G50S . G - 1 0 MDGA2 47213602 1.000000 0.71417 1.000000 0.80357 0.294000 0.27393 1.781000 0.38644 1.267000 0.44247 0.655000 0.94253 GGC NOVEL MDGA2-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000073352.5 1 11.714485 KEEP 0 0 0 39 1275 CC 1 1 0 - 12 60 376 0 0 21.512453 289 60 9338 425 ENST00000399232.2 0.039867 1 C14orf182 283551 __UNKNOWN__ __UNKNOWN__ 14 50474006 50474006 __UNKNOWN__ 5'UTR SNP C C G rs4898643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50474006C>G ENST00000399206.1 - 0 232 NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 NA NA large_intestine(2)|urinary_tract(1) 3 CCACAAAGACCAACACCGGTG 0.522 NA C||| 725 0.144768 0.2436 0.1844 5008 , , NA 21391 0.122 NA 0.0934 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK090420 CCDS41949.1 14q22.1 2009-02-24 ENSG00000214900 ENSG00000214900 283551 27503 protein-coding gene gene with protein product NA Standard NM_001012706 NM_001012706 NA Approved uc001wxi.1 A1A4T8 ENST00000399206.1:c.-1489G>C chr14.hg19:g.50474006C>G NA A8MYX4 hg19 CCDS41949.1 0.02 16.37698 GACxAAC COVERED NOVEL C14orf182-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395717.1 1 15.349543 KEEP 0 0 0 51 1787 CC 1 1 0 - 19 60 653 0 0 41.761959 372 60 13590 532 ENST00000399206.1 0.048593 1 VCPKMT 79609 __UNKNOWN__ __UNKNOWN__ 14 50582532 50582532 __UNKNOWN__ Intron SNP G G C rs140002558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50582532G>C ENST00000395860.2 - 3 455 VCPKMT_ENST00000395859.2_Intron NM_024558.2 NP_078834.2 Q9H867 MT21D_HUMAN valosin containing protein lysine (K) methyltransferase NA NA peptidyl-lysine trimethylation (GO:0018023) cytoplasm (GO:0005737) protein-lysine N-methyltransferase activity (GO:0016279) NA TCTAAGTGAAGAGACTTCGCT 0.413 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 17159 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 89 88 88 NA NA 14 NA 50582532 2203 4300 6503 SO:0001627 intron_variant AK023982 CCDS9696.2, CCDS41951.1 14q21.3 2013-09-30 2013-09-30 2013-09-30 ENSG00000100483 ENSG00000100483 79609 20352 protein-coding gene gene with protein product 615260 chromosome 14 open reading frame 138, methyltransferase like 21D C14orf138, METTL21D NA 22948820 Standard NM_024558 NR_049738 NA Approved VCP-KMT uc001wxo.1 Q9H867 OTTHUMG00000029531 ENST00000395860.2:c.450+24C>G chr14.hg19:g.50582532G>C NA B7ZLA3|B7ZLA4|Q2M2X3|Q86T12 hg19 CCDS9696.2 0.02 6.925809 GAAxAGA COVERED NOVEL VCPKMT-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276877.1 2 26.787192 KEEP 0 0 0 89 3189 GG 1 1 0 - 6 60 235 0 0 14.690121 192 70 7309 360 ENST00000395860.2 0.030303 1 SOS2 6655 __UNKNOWN__ __UNKNOWN__ 14 50616878 50616878 __UNKNOWN__ Silent SNP G G A rs2229869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50616878G>A ENST00000543680.1 - 13 2158 c.2133C>T c.(2131-2133)aaC>aaT p.N711N SOS2_ENST00000216373.5_Silent_p.N744N Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 744 N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}. NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) GGCTTACTCCGTTTGCCTGAG 0.393 NA g||| 2596 0.518371 0.4024 0.647 5008 , , NA 20617 0.4276 NA 0.67 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 A 2018,2388 562.1+/-380.9 463,1092,648 291 247 262 2232 1.7 1 14 dbSNP_98 262 5889,2711 682.4+/-403.8 2013,1863,424 no coding-synonymous SOS2 NM_006939.2 2476,2955,1072 AA,AG,GG 31.5233,45.8012,39.205 744/1333 50616878 7907,5099 2203 4300 6503 SO:0001819 synonymous_variant L13858 CCDS9697.1 14q21 2013-01-10 2001-12-04 ENSG00000100485 ENSG00000100485 6655 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11188 protein-coding gene gene with protein product 601247 son of sevenless (Drosophilia) homolog 2 NA 8276400 Standard NM_006939 NA Approved uc001wxs.4 Q07890 OTTHUMG00000140292 ENST00000543680.1:c.2133C>T chr14.hg19:g.50616878G>A NA B7ZKT6|D3DSB4|Q15503|Q17RN1 hg19 0.02 17.034391 TCCxTTT COVERED NOVEL SOS2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410706.1 1 9.599847 KEEP 0 2 60 53 1830 GG 1 1 0 - 34 60 1275 0 0 95.241044 317 60 11516 497 ENST00000543680.1 0.096866 1 SOS2 6655 __UNKNOWN__ __UNKNOWN__ 14 50641347 50641347 __UNKNOWN__ Intron SNP T T G rs10782418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50641347T>G ENST00000543680.1 - 7 995 SOS2_ENST00000216373.5_Intron|SOS2_ENST00000555794.1_Intron Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) AACAGAAACGTCTACTAAAAA 0.353 NA G||| 4470 0.892572 0.9955 0.951 5008 , , NA 16737 0.8899 NA 0.8698 False NA ,,, NA NA NA 2504 0.7382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L13858 CCDS9697.1 14q21 2013-01-10 2001-12-04 ENSG00000100485 ENSG00000100485 6655 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11188 protein-coding gene gene with protein product 601247 son of sevenless (Drosophilia) homolog 2 NA 8276400 Standard NM_006939 NA Approved uc001wxs.4 Q07890 OTTHUMG00000140292 ENST00000543680.1:c.969+5942A>C chr14.hg19:g.50641347T>G NA B7ZKT6|D3DSB4|Q15503|Q17RN1 hg19 0.02 6.345968 ACGxCTA COVERED NOVEL SOS2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410706.1 1 8.060168 KEEP 0 1 35 39 1268 TT 1 1 0 - 8 60 300 0 0 19.748581 165 60 5935 234 ENST00000543680.1 0.046243 1 SOS2 6655 __UNKNOWN__ __UNKNOWN__ 14 50670965 50670965 __UNKNOWN__ Intron SNP G G C rs1075537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50670965G>C ENST00000543680.1 - 2 239 SOS2_ENST00000216373.5_Intron Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) NA NA apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) TCATACAGTGGTTGAGTGACT 0.294 NA G||| 4296 0.857827 0.851 0.9265 5008 , , NA 15226 0.8889 NA 0.8837 False NA ,,, NA NA NA 2504 0.7597 NA NA NA NA 0 G 3811,595 748.2+/-411.9 1652,507,44 91 95 94 -2.7 0 14 dbSNP_86 94 7660,936 755.5+/-407.5 3414,832,52 no intron SOS2 NM_006939.2 5066,1339,96 CC,CG,GG 10.8888,13.5043,11.7751 50670965 11471,1531 2203 4298 6501 SO:0001627 intron_variant L13858 CCDS9697.1 14q21 2013-01-10 2001-12-04 ENSG00000100485 ENSG00000100485 6655 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11188 protein-coding gene gene with protein product 601247 son of sevenless (Drosophilia) homolog 2 NA 8276400 Standard NM_006939 NA Approved uc001wxs.4 Q07890 OTTHUMG00000140292 ENST00000543680.1:c.213+36C>G chr14.hg19:g.50670965G>C NA B7ZKT6|D3DSB4|Q15503|Q17RN1 hg19 0.02 2.394183 GTGxTTG COVERED NOVEL SOS2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410706.1 1 5.718604 KEEP 0 0 0 19 667 GG 0.99986 0.99897 0 - 4 60 158 0 0 10.857867 74 60 2681 117 ENST00000543680.1 0.051282 0.99911 L2HGDH 79944 __UNKNOWN__ __UNKNOWN__ 14 50712351 50712351 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50712351T>C ENST00000261699.4 - 10 1214 L2HGDH_ENST00000267436.4_3'UTR Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase NA NA 2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) 2-hydroxyglutarate dehydrogenase activity (GO:0047545) kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) GTTTTGTGACTCTTCAAAATT 0.254 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9698.1 14q22.1 2006-04-28 2005-05-25 2005-05-25 ENSG00000087299 ENSG00000087299 79944 1.1.99.2 20499 protein-coding gene gene with protein product 2-hydroxyglutarate dehydrogenase 609584 chromosome 14 open reading frame 160 C14orf160 NA 16005139 Standard NM_024884 NM_024884 NA Approved FLJ12618 uc001wxu.3 Q9H9P8 OTTHUMG00000140289 ENST00000261699.4:c.1197-7908A>G chr14.hg19:g.50712351T>C NA Q9BRR1 hg19 0.02 1.819373 GACxCTT COVERED NOVEL L2HGDH-002 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276871.1 0 6.921463 KEEP 0 0 0 23 743 TT 0.999892 0.999848 0 - 5 60 183 0 0 12.089792 94 60 3473 139 ENST00000261699.4 0.050505 0.999956 CDKL1 8814 __UNKNOWN__ __UNKNOWN__ 14 50862993 50862993 __UNKNOWN__ 5'UTR SNP T T C rs4901030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50862993T>C ENST00000216378.2 - 0 241 CDKL1_ENST00000356146.1_Intron NM_001282236.1 NP_001269165.1 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 (CDC2-related kinase) NA NA heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) TATAAAATATTGGCACCAACG 0.373 NA T||| 2586 0.516374 0.4032 0.5965 5008 , , NA 16671 0.6984 NA 0.4811 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF390028 CCDS9699.1, CCDS73637.1 14q21.3 2011-11-04 ENSG00000100490 ENSG00000100490 8814 Cyclin-dependent kinases 1781 protein-coding gene gene with protein product 603441 NA 1639063, 7595554 Standard XM_005268157 NA Approved KKIALRE uc010anu.2 Q00532 OTTHUMG00000140290 ENST00000216378.2:c.-404A>G chr14.hg19:g.50862993T>C NA Q2M3A4|Q6QUA0|Q8WXQ5 hg19 0.02 6.202669 TATxGGC COVERED NOVEL CDKL1-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000382103.1 76 61.981966 KEEP 0 0 0 206 6418 TT 1 1 0 - 12 60 438 0 0 30.445101 166 60 6026 517 ENST00000216378.2 0.067416 1 MAP4K5 11183 __UNKNOWN__ __UNKNOWN__ 14 50885600 50885600 __UNKNOWN__ 3'UTR SNP A A T rs75315097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50885600A>T ENST00000013125.4 - 0 3996 NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 NA NA activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) AGAAAAACAAACTCAAAAATG 0.264 NA A||| 187 0.0373403 0.0008 0.0274 5008 , , NA 16886 0.1637 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U77129 14q11.2-q21 2011-06-09 ENSG00000012983 11183 Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases 6867 protein-coding gene gene with protein product germinal center kinase-related 604923 NA 9038372, 8274451 Standard NM_006575 NM_198794 NA Approved KHS1, GCKR, KHS uc001wyb.3 Q9Y4K4 ENST00000013125.4:c.*1137T>A chr14.hg19:g.50885600A>T NA Q8IYF6 hg19 0.02 12.785422 CAAxCTC COVERED NOVEL MAP4K5-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000410880.1 2 30.995151 KEEP 0 0 0 103 3306 AA 1 1 0 - 11 60 408 0 0 25.201323 313 60 11269 520 ENST00000013125.4 0.033951 1 MAP4K5 11183 __UNKNOWN__ __UNKNOWN__ 14 50998731 50998731 __UNKNOWN__ Silent SNP T T G rs55940722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:50998731T>G ENST00000013125.4 - 2 355 c.37A>C c.(37-39)Agg>Cgg p.R13R NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 13 NA activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) GGGTTCCGCCTCAGGATGTCC 0.662 NA T||| 58 0.0115815 0.0 0.0 5008 , , NA 12026 0.0546 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T , 5,3691 0,5,1843 12 16 15 37,37 4.2 1 14 dbSNP_129 15 0,8162 0,0,4081 no coding-synonymous,coding-synonymous MAP4K5 NM_006575.4,NM_198794.2 , 0,5,5924 GG,GT,TT 0.0,0.1353,0.0422 , 13/847,13/847 50998731 5,11853 1848 4081 5929 SO:0001819 synonymous_variant U77129 14q11.2-q21 2011-06-09 ENSG00000012983 11183 Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases 6867 protein-coding gene gene with protein product germinal center kinase-related 604923 NA 9038372, 8274451 Standard NM_006575 NM_198794 NA Approved KHS1, GCKR, KHS uc001wyb.3 Q9Y4K4 ENST00000013125.4:c.37A>C chr14.hg19:g.50998731T>G NA Q8IYF6 hg19 0.02 6.78752 GCCxCAG COVERED NOVEL MAP4K5-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000410880.1 1 27.059095 KEEP 0 0 0 90 2704 TT 1 1 0 - 8 60 290 0 0 18.419583 183 60 6348 315 ENST00000013125.4 0.041885 1 NIN 51199 __UNKNOWN__ __UNKNOWN__ 14 51219349 51219349 __UNKNOWN__ Missense_Mutation SNP G G A rs61755995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:51219349G>A ENST00000530997.2 - 19 4836 c.4837C>T c.(4837-4839)Cgt>Tgt p.R1613C NIN_ENST00000245441.5_Missense_Mutation_p.R1613C|NIN_ENST00000382041.3_Missense_Mutation_p.R1613C|NIN_ENST00000324330.9_Missense_Mutation_p.R1613C|NIN_ENST00000389868.3_Missense_Mutation_p.R900C|NIN_ENST00000382043.4_Missense_Mutation_p.R900C|NIN_ENST00000453196.1_Missense_Mutation_p.R1613C Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1613 NA centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454) centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922) calcium ion binding (GO:0005509)|GTP binding (GO:0005525) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCTGTTAGACGTTGATTAAGT 0.368 NA T PDGFRB MPD G||| 161 0.0321486 0.0 0.0346 5008 , , NA 15830 0.1349 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 14 14q24 51199 ninein (GSK3B interacting protein) L 0 G CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG 2,4404 4.2+/-10.8 0,2,2201 281 270 274 2698,4837,4837,4837 5.7 1 14 dbSNP_129 274 4,8596 3.7+/-12.6 0,4,4296 yes missense,missense,missense,missense NIN NM_016350.4,NM_020921.3,NM_182944.2,NM_182946.1 180,180,180,180 0,6,6497 AA,AG,GG 0.0465,0.0454,0.0461 probably-damaging,probably-damaging,probably-damaging,probably-damaging 900/1378,1613/2134,1613/2047,1613/2091 51219349 6,13000 2203 4300 6503 SO:0001583 missense AF212162 CCDS32078.1, CCDS32079.1, CCDS32078.2 14q21-q22 2013-01-10 ENSG00000100503 ENSG00000100503 51199 EF-hand domain containing 14906 protein-coding gene gene with protein product 608684 NA 11004522, 11162463 Standard NM_182946 NM_020921 NA Approved uc001wyi.3 Q8N4C6 OTTHUMG00000029569 ENST00000530997.2:c.4837C>T chr14.hg19:g.51219349G>A ENSP00000436092:p.Arg1613Cys NA A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61 hg19 0.02 24.579488 GACxTTG COVERED 90|90 0.04120879120879121|0.04120879120879121 0|0 0.0|0.0 1|1 0.0027624309392265192|0.0027624309392265192 88|88 0.15384615384615385|0.15384615384615385 1|1 0.0013192612137203166|0.0013192612137203166 G|G 20.9|20.9 4.065857|4.065857 0.76187|0.76187 4.54E-4|4.54E-4 4.65E-4|4.65E-4 ENSG00000100503|ENSG00000100503 ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853 T;T;T;T;T;T|. 0.13657|. 3.32;2.57;2.57;3.06;3.05;3.06|. 5.74|5.74 5.74|5.74 0.90152|0.90152 .|. 0.182215|. 0.48767|. D|. 0.000174|. T|T 0.00695|0.00695 0.0023|0.0023 M|M 0.64997|0.64997 1.995|1.995 0.24938|0.24938 P|P 0.99187549|0.99187549 D;D;D;D;D|. 0.89917|. 1.0;0.999;0.998;1.0;0.999|. P;P;P;D;P|. 0.66979|. 0.857;0.901;0.855;0.948;0.855|. T|T 0.07271|0.07271 -1.0781|-1.0781 9|4 0.54805|. T|. 0.06|. -9.5825|-9.5825 13.825|13.825 0.63346|0.63346 0.0:0.0:0.8472:0.1528|0.0:0.0:0.8472:0.1528 rs61755995|rs61755995 1619;1613;1613;900;1613|. Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|. .;.;NIN_HUMAN;.;.|. C|M 1613;1596;900;900;1619;1613;1613;1613|1103 ENSP00000245441:R1613C;ENSP00000374518:R900C;ENSP00000371474:R900C;ENSP00000371472:R1613C;ENSP00000324210:R1613C;ENSP00000412391:R1613C|. ENSP00000245441:R1613C|. R|T -|- 1|2 0|0 NIN|NIN 50289099|50289099 0.992000|0.992000 0.36948|0.36948 1.000000|1.000000 0.80357|0.80357 0.916000|0.916000 0.54674|0.54674 2.992000|2.992000 0.49417|0.49417 2.707000|2.707000 0.92482|0.92482 0.655000|0.655000 0.94253|0.94253 CGT|ACG NOVEL NIN-017 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000395210.2 3 36.051034 KEEP 0 1 32 131 4533 GG 1 1 0 - 17 60 631 0 0 38.202489 540 60 19761 881 ENST00000530997.2 0.030521 1 TRIM9 114088 __UNKNOWN__ __UNKNOWN__ 14 51446216 51446216 __UNKNOWN__ Missense_Mutation SNP T T G rs2275462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:51446216T>G ENST00000338969.5 - 12 2591 c.2202A>C c.(2200-2202)ttA>ttC p.L734F TRIM9_ENST00000298355.3_Missense_Mutation_p.L653F Q9C026 TRIM9_HUMAN tripartite motif containing 9 653 NA negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021) ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TTTTTCTATTTAAGTCGAGGA 0.448 NA T||| 2954 0.589856 0.4372 0.7262 5008 , , NA 19323 0.6925 NA 0.5537 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 T PHE/LEU 1944,2462 551.4+/-378.3 432,1080,691 198 218 211 1959 3.5 1 14 dbSNP_100 211 4883,3717 618.6+/-396.8 1386,2111,803 yes missense TRIM9 NM_015163.5 22 1818,3191,1494 GG,GT,TT 43.2209,44.1217,47.5088 benign 653/711 51446216 6827,6179 2203 4300 6503 SO:0001583 missense AF220036 CCDS9703.1, CCDS45105.1 14q21.3 2013-02-11 2011-01-25 ENSG00000100505 ENSG00000100505 114088 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing 16288 protein-coding gene gene with protein product 606555 tripartite motif-containing 9 NA 11331580, 11524423 Standard NM_015163 NM_015163 NA Approved SPRING, RNF91 uc001wyx.4 Q9C026 OTTHUMG00000140291 ENST00000338969.5:c.2202A>C chr14.hg19:g.51446216T>G ENSP00000342970:p.Leu734Phe NA D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027 hg19 0.02 7.175459 ATTxAAG COVERED 1278 0.5851648351648352 207 0.42073170731707316 241 0.6657458563535912 408 0.7132867132867133 422 0.5567282321899736 T 15.58 2.876985 0.51801 0.441217 0.567791 ENSG00000100505 ENST00000298355;ENST00000338969 T;T 0.73363 -0.44;-0.74 5.89 3.54 0.40534 Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); 0.122414 0.56097 N 0.000032 T 0.00012 0.0000 L 0.41236 1.265 0.09310 P 1.0 B;B 0.21606 0.058;0.012 B;B 0.29663 0.105;0.077 T 0.48387 -0.9040 9 0.11182 T 0.66 . 1.0846 0.01650 0.1734:0.1282:0.1816:0.5167 rs2275462;rs17795996;rs17855888;rs60258718;rs2275462 734;653 Q9C026-4;Q9C026 .;TRIM9_HUMAN F 653;734 ENSP00000298355:L653F;ENSP00000342970:L734F ENSP00000298355:L653F L - 3 2 TRIM9 50515966 0.999000 0.42202 1.000000 0.80357 0.993000 0.82548 0.502000 0.22594 1.035000 0.39972 0.455000 0.32223 TTA NOVEL TRIM9-002 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276875.1 0 8.422932 KEEP 0 0 0 28 846 TT 0.999997 0.999997 0 - 7 60 277 0 0 18.176415 174 60 6180 241 ENST00000338969.5 0.038674 1 TRIM9 114088 __UNKNOWN__ __UNKNOWN__ 14 51446290 51446290 __UNKNOWN__ Intron SNP G G T rs11844823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:51446290G>T ENST00000338969.5 - 12 2540 TRIM9_ENST00000298355.3_Intron Q9C026 TRIM9_HUMAN tripartite motif containing 9 NA NA negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021) ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) AGAAAAATTGGGGTTCATTTC 0.423 NA G||| 994 0.198482 0.2005 0.2839 5008 , , NA 18955 0.2817 NA 0.1193 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 G 891,3509 319.1+/-295.9 81,729,1390 103 115 111 2.4 0 14 dbSNP_120 111 890,7710 194.7+/-240.0 42,806,3452 no intron TRIM9 NM_015163.5 123,1535,4842 TT,TG,GG 10.3488,20.25,13.7 51446290 1781,11219 2200 4300 6500 SO:0001627 intron_variant AF220036 CCDS9703.1, CCDS45105.1 14q21.3 2013-02-11 2011-01-25 ENSG00000100505 ENSG00000100505 114088 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Fibronectin type III domain containing 16288 protein-coding gene gene with protein product 606555 tripartite motif-containing 9 NA 11331580, 11524423 Standard NM_015163 NM_015163 NA Approved SPRING, RNF91 uc001wyx.4 Q9C026 OTTHUMG00000140291 ENST00000338969.5:c.2151-23C>A chr14.hg19:g.51446290G>T NA D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027 hg19 0.02 4.536778 TTGxGGT COVERED NOVEL TRIM9-002 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000276875.1 0 4.213816 KEEP 0 0 0 14 503 GG 0.995343 0.995332 0 - 7 60 247 0 0 16.829924 100 60 3597 140 ENST00000338969.5 0.065421 0.999989 TMX1 81542 __UNKNOWN__ __UNKNOWN__ 14 51716188 51716188 __UNKNOWN__ Silent SNP T T G rs17853629|rs7161242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:51716188T>G ENST00000457354.2 + 6 617 c.492T>G c.(490-492)acT>acG p.T164T NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 164 NA cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730) disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756) endometrium(2)|large_intestine(2)|urinary_tract(1) 5 GATTTTAGACTTGCCATAACT 0.313 NA T||| 3404 0.679712 0.6536 0.7262 5008 , , NA 15991 0.6349 NA 0.7495 False NA ,,, NA NA NA 2504 0.6564 NA NA NA NA 0 T 2390,1234 770,850,192 207 187 193 492 4.3 1 14 dbSNP_116 193 6264,1862 2420,1424,219 no coding-synonymous TMX1 NM_030755.4 3190,2274,411 GG,GT,TT 22.9141,34.0508,26.3489 164/281 51716188 8654,3096 1812 4063 5875 SO:0001819 synonymous_variant AB048246 CCDS41953.1 14q22.1 2011-10-19 2009-02-23 2009-02-23 81542 Protein disulfide isomerases 15487 protein-coding gene gene with protein product thioredoxin-related transmembrane protein, protein disulfide isomerase family A, member 11 610527 thioredoxin domain-containing, thioredoxin domain containing, thioredoxin domain containing 1 TXNDC, TXNDC1 NA 11152479 Standard NM_030755 NM_030755 NA Approved TMX, PDIA11 uc001wza.4 Q9H3N1 ENST00000457354.2:c.492T>G chr14.hg19:g.51716188T>G NA B2R7A4|Q8N487|Q8NBN5|Q9Y4T6 hg19 CCDS41953.1 0.02 5.522678 GACxTGC COVERED NOVEL TMX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411206.1 1 7.958325 KEEP 0 1 36 39 1200 TT 1 1 0 + 7 60 231 1 0 13.67377 169 60 6229 246 ENST00000457354.2 0.039773 1 RP11-280K24.1 0 __UNKNOWN__ __UNKNOWN__ 14 52224280 52224280 __UNKNOWN__ lincRNA SNP C C T rs9796332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52224280C>T ENST00000557308.1 + 0 215 NA NA NA TTGTCTGTGACCCCTCTCAAC 0.393 NA C||| 2051 0.409545 0.2042 0.5663 5008 , , NA 26345 0.5794 NA 0.4274 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000557308.1: chr14.hg19:g.52224280C>T NA hg19 0.02 1.98729 TGAxCCC COVERED NOVEL RP11-280K24.1-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000411573.1 2 3.009786 KEEP 9 0 0 10 348 CC 0.99257 0.991794 0 + 5 45 184 0 0 12.669431 75 50 2735 113 ENST00000557308.1 0.0625 0.999218 RP11-463J10.2 0 __UNKNOWN__ __UNKNOWN__ 14 52384014 52384014 __UNKNOWN__ Intron SNP G G A rs1693198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52384014G>A ENST00000556834.1 - 2 166 GNG2_ENST00000554875.1_Intron|GNG2_ENST00000554736.1_Intron|GNG2_ENST00000557376.1_Intron|GNG2_ENST00000553299.1_Intron|GNG2_ENST00000335281.4_Intron|GNG2_ENST00000556766.1_Intron|GNG2_ENST00000556752.1_Intron|GNG2_ENST00000553432.1_Intron|GNG2_ENST00000555472.1_Intron NA NA NA CCACGAAGAGGGATAGGGAAG 0.453 NA G||| 693 0.138379 0.1679 0.0346 5008 , , NA 20598 0.3185 NA 0.0239 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000556834.1:c.115+37C>T chr14.hg19:g.52384014G>A NA hg19 0.02 9.932542 GAGxGAT COVERED NOVEL RP11-463J10.2-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000411595.1 2 14.747806 KEEP 0 0 0 49 1717 GG 1 1 0 - 11 60 422 0 0 28.270986 219 60 7871 314 ENST00000556834.1 0.047826 1 RP11-463J10.2 0 __UNKNOWN__ __UNKNOWN__ 14 52384093 52384093 __UNKNOWN__ Missense_Mutation SNP G G C rs2275459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52384093G>C ENST00000556834.1 - 2 124 c.74C>G c.(73-75)aCa>aGa p.T25R GNG2_ENST00000554875.1_Intron|GNG2_ENST00000554736.1_Intron|GNG2_ENST00000557376.1_Intron|GNG2_ENST00000553299.1_Intron|GNG2_ENST00000335281.4_Intron|GNG2_ENST00000556766.1_Intron|GNG2_ENST00000556752.1_Intron|GNG2_ENST00000553432.1_Intron|GNG2_ENST00000555472.1_Intron NA NA NA CATCCCATTTGTCAGACAGCA 0.493 NA G||| 671 0.133986 0.1536 0.0317 5008 , , NA 19319 0.3185 NA 0.0229 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000556834.1:c.74C>G chr14.hg19:g.52384093G>C ENSP00000451373:p.Thr25Arg NA hg19 0.02 23.463562 TTTxTCA COVERED 282 0.12912087912087913 80 0.16260162601626016 14 0.03867403314917127 177 0.3094405594405594 11 0.014511873350923483 G 6.921 0.539619 0.13250 . . ENSG00000258928 ENST00000556834 . . . 3.88 0.93 0.19454 . . . . . T 0.00012 0.0000 . . . 0.54753 P 1.4999999999987246E-5 . . . . . . T 0.38023 -0.9680 3 . . . . 3.1157 0.06373 0.2288:0.0:0.5599:0.2113 rs2275459;rs2275459 . . . R 25 . . T - 2 0 RP11-463J10.2 51453843 0.368000 0.25031 0.136000 0.22124 0.117000 0.20001 0.170000 0.16663 0.195000 0.20347 0.655000 0.94253 ACA NOVEL RP11-463J10.2-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000411595.1 2 32.205765 KEEP 0 0 0 107 3877 GG 1 1 0 - 17 60 618 0 0 37.884255 486 60 18749 772 ENST00000556834.1 0.033797 1 NID2 22795 __UNKNOWN__ __UNKNOWN__ 14 52520368 52520368 __UNKNOWN__ Missense_Mutation SNP C C T rs2101919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52520368C>T ENST00000216286.5 - 5 1357 c.1358G>A c.(1357-1359)gGt>gAt p.G453D NID2_ENST00000541773.1_Missense_Mutation_p.G400D NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 453 NA G -> D (in dbSNP:rs2101919). {ECO:0000269|PubMed:9733643}. basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|collagen binding (GO:0005518) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGTAGTGTGACCTGAAGCAGG 0.512 NA C||| 2860 0.571086 0.447 0.5648 5008 , , NA 20220 0.4425 NA 0.7525 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 C ASP/GLY 2206,2200 588.8+/-387.0 565,1076,562 132 132 132 1358 -5 0 14 dbSNP_96 132 6463,2137 715.2+/-406.0 2416,1631,253 yes missense NID2 NM_007361.3 94 2981,2707,815 TT,TC,CC 24.8488,49.9319,33.3461 benign 453/1376 52520368 8669,4337 2203 4300 6503 SO:0001583 missense AB009799 CCDS9706.1 14q22.1 2008-05-14 ENSG00000087303 ENSG00000087303 22795 13389 protein-coding gene gene with protein product 605399 NA 9733643 Standard NM_007361 NA Approved uc001wzo.3 Q14112 OTTHUMG00000140298 ENST00000216286.5:c.1358G>A chr14.hg19:g.52520368C>T ENSP00000216286:p.Gly453Asp NA A8K6I7|B4DU19|O43710 hg19 CCDS9706.1 0.02 10.586967 TGAxCTG COVERED 1267 0.5801282051282052 223 0.4532520325203252 205 0.5662983425414365 263 0.4597902097902098 576 0.7598944591029023 C 6.095 0.385827 0.11524 0.500681 0.751512 ENSG00000087303 ENST00000216286;ENST00000541773;ENST00000395707 D;D 0.83335 -1.71;-1.6 5.61 -5.03 0.02973 . 1.291090 0.05087 N 0.484656 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.12630 0.006;0.001 B;B 0.13407 0.009;0.002 T 0.25916 -1.0118 9 0.14252 T 0.57 . 10.746 0.46181 0.0:0.4433:0.4289:0.1277 rs2101919;rs52833324;rs56866817;rs2101919 400;453 Q14112-2;Q14112 .;NID2_HUMAN D 453;400;455 ENSP00000216286:G453D;ENSP00000443730:G400D ENSP00000216286:G453D G - 2 0 NID2 51590118 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.119000 0.10676 -0.995000 0.03459 -0.165000 0.13383 GGT NOVEL NID2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276888.1 1 18.329436 KEEP 0 2 63 83 2933 CC 1 1 0 - 20 60 740 0 0 51.91368 271 60 9897 456 ENST00000216286.5 0.068729 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 52622467 52622467 __UNKNOWN__ IGR SNP T T A rs1075974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52622467T>A NA NA RP11-1033H12.1 (26124 upstream) : PTGDR (111963 downstream) NA NA NA AACCCTGGCCTACACTCTGGA 0.448 NA t||| 1607 0.320887 0.0908 0.4193 5008 , , NA 16527 0.6687 NA 0.1412 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.52622467T>A NA hg19 0.02 8.163339 GCCxACA COVERED NOVEL 0 1 10.099552 KEEP 0 2 49 51 1553 TT 1 1 0 9 60 315 0 0 19.783888 195 60 7263 306 0.044118 1 PTGER2 5732 __UNKNOWN__ __UNKNOWN__ 14 52795100 52795100 __UNKNOWN__ 3'UTR SNP C C T rs1042618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52795100C>T ENST00000245457.5 + 0 2159 NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) prostaglandin E receptor activity (GO:0004957) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929) TGTGTTGTACCAAAATTCATC 0.313 NA C||| 1196 0.238818 0.0968 0.17 5008 , , NA 16790 0.3591 NA 0.1203 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9708.1 14q22 2012-08-08 2002-08-29 ENSG00000125384 ENSG00000125384 5732 GPCR / Class A : Prostanoid receptors 9594 protein-coding gene gene with protein product 176804 prostaglandin E receptor 2 (subtype EP2), 53kD NA 8250933, 7759114 Standard NM_000956 NA Approved EP2 uc001wzr.3 P43116 OTTHUMG00000140300 ENST00000245457.5:c.*928C>T chr14.hg19:g.52795100C>T NA D3DSC0|Q52LG8 hg19 CCDS9708.1 0.02 1.845666 TACxAAA COVERED NOVEL PTGER2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276890.1 1 7.524345 KEEP 0 0 0 25 871 CC 0.999931 0.999861 0 + 7 60 262 0 0 18.655844 89 60 3294 148 ENST00000245457.5 0.072917 0.99993 TXNDC16 57544 __UNKNOWN__ __UNKNOWN__ 14 52906081 52906081 __UNKNOWN__ Silent SNP T T G rs2249922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:52906081T>G ENST00000281741.4 - 20 2406 c.2035A>C c.(2035-2037)Agg>Cgg p.R679R TXNDC16_ENST00000554399.1_5'UTR NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 679 NA cell redox homeostasis (GO:0045454) endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) AAATATGCCCTCAAGATTCCT 0.378 NA G||| 2946 0.588259 0.7005 0.4438 5008 , , NA 17563 0.7073 NA 0.4036 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 G , 2981,1425 464.2+/-353.8 1005,971,227 67 68 68 2020,2035 2.1 0 14 dbSNP_100 68 3549,5051 628.2+/-398.1 714,2121,1465 no coding-synonymous,coding-synonymous TXNDC16 NM_001160047.1,NM_020784.2 , 1719,3092,1692 GG,GT,TT 41.2674,32.3423,49.7924 , 674/821,679/826 52906081 6530,6476 2203 4300 6503 SO:0001819 synonymous_variant AB037765 CCDS32083.1 14q22.1 2007-08-16 2007-08-16 2007-08-16 ENSG00000087301 57544 19965 protein-coding gene gene with protein product KIAA1344 KIAA1344 NA Standard XM_051699 NM_020784 NA Approved uc001wzs.3 Q9P2K2 ENST00000281741.4:c.2035A>C chr14.hg19:g.52906081T>G NA A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7 hg19 CCDS32083.1 0.02 6.209464 CCCxCAA COVERED NOVEL TXNDC16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411681.1 2 5.521054 KEEP 0 3 96 52 1695 TT 1 1 0 - 9 60 338 0 0 22.159622 191 60 7016 322 ENST00000281741.4 0.045 1 ERO1L 30001 __UNKNOWN__ __UNKNOWN__ 14 53133232 53133232 __UNKNOWN__ Intron SNP T T C rs77648601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:53133232T>C ENST00000395686.3 - 7 732 NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) NA NA 4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020) oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035) ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) TAAAATGTCTTATTAAACCTT 0.368 NA T||| 22 0.00439297 0.0 0.0 5008 , , NA 17106 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 43 43 43 NA NA 14 NA 53133232 2202 4300 6502 SO:0001627 intron_variant AF081886 CCDS9709.1 14q22.1 2010-10-06 2001-11-28 ENSG00000197930 ENSG00000197930 30001 13280 protein-coding gene gene with protein product 615435 ERO1 (S. cerevisiae)-like NA 10671517 Standard NM_014584 NM_014584 NA Approved ERO1A, ERO1-alpha uc001wzv.3 Q96HE7 OTTHUMG00000140301 ENST00000395686.3:c.509-19A>G chr14.hg19:g.53133232T>C NA A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6 hg19 CCDS9709.1 0.02 1.933276 TCTxATT COVERED NOVEL ERO1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276892.1 0 4.205334 KEEP 0 0 0 14 406 TT 0.995343 0.995022 0 - 4 60 145 0 0 9.385707 82 60 2954 107 ENST00000395686.3 0.046512 0.999678 PSMC6 5706 __UNKNOWN__ __UNKNOWN__ 14 53194419 53194419 __UNKNOWN__ 3'UTR SNP T T C rs6696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:53194419T>C ENST00000445930.2 + 0 1302 PSMC6_ENST00000557557.1_3'UTR|PSMC6_ENST00000606149.1_3'UTR P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TATGTATTGGTAATGATGTCA 0.239 NA C||| 3205 0.639976 0.7118 0.6124 5008 , , NA 16541 0.6399 NA 0.6064 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9710.2 14q22.1 2010-04-21 ENSG00000100519 ENSG00000100519 5706 Proteasome (prosome, macropain) subunits, ATPases / AAA-type 9553 protein-coding gene gene with protein product 602708 NA 8674546, 9473509 Standard NM_002806 NM_002806 NA Approved p42 uc010tqx.2 P62333 OTTHUMG00000152333 ENST00000445930.2:c.*84T>C chr14.hg19:g.53194419T>C NA B2R975|P49719|Q6IBU3|Q92524 hg19 CCDS9710.2 0.02 10.470195 TGGxAAT COVERED NOVEL PSMC6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276904.2 0 14.279026 KEEP 0 1 36 60 1901 TT 1 1 0 + 9 60 303 0 0 17.670296 284 60 10104 425 ENST00000445930.2 0.030717 1 PSMC6 5706 __UNKNOWN__ __UNKNOWN__ 14 53195076 53195076 __UNKNOWN__ 3'UTR SNP G G A rs2273743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:53195076G>A ENST00000445930.2 + 0 1959 P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) tgaggatgtggaggtctggac 0.358 NA A||| 3389 0.676717 0.848 0.6182 5008 , , NA 19406 0.6399 NA 0.6064 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9710.2 14q22.1 2010-04-21 ENSG00000100519 ENSG00000100519 5706 Proteasome (prosome, macropain) subunits, ATPases / AAA-type 9553 protein-coding gene gene with protein product 602708 NA 8674546, 9473509 Standard NM_002806 NM_002806 NA Approved p42 uc010tqx.2 P62333 OTTHUMG00000152333 ENST00000445930.2:c.*741G>A chr14.hg19:g.53195076G>A NA B2R975|P49719|Q6IBU3|Q92524 hg19 CCDS9710.2 0.02 4.059795 GTGxAGG COVERED NOVEL PSMC6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276904.2 1 14.747259 KEEP 0 0 0 49 1708 GG 1 1 0 + 6 60 222 0 0 14.126891 144 60 5371 248 ENST00000445930.2 0.04 1 GNPNAT1 64841 __UNKNOWN__ __UNKNOWN__ 14 53244637 53244637 __UNKNOWN__ 3'UTR SNP A A G rs75236386 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:53244637A>G ENST00000216410.3 - 0 1134 GNPNAT1_ENST00000554230.1_3'UTR NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048) cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020) glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029) liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) ATTTAATTTTATGCATGTGAT 0.299 NA A||| 94 0.01877 0.0 0.0 5008 , , NA 16182 0.0913 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001469 CCDS9712.1 14q22.1 2011-11-16 ENSG00000100522 ENSG00000100522 64841 2.3.1.4 19980 protein-coding gene gene with protein product NA Standard NM_198066 NA Approved Gpnat1, FLJ10607 uc001xab.3 Q96EK6 OTTHUMG00000152334 ENST00000216410.3:c.*392T>C chr14.hg19:g.53244637A>G NA hg19 CCDS9712.1 0.02 14.1882 TTTxTGC COVERED NOVEL GNPNAT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276898.1 1 20.157428 KEEP 0 0 0 67 2076 AA 1 1 0 - 12 60 467 0 0 30.341549 300 60 11033 461 ENST00000216410.3 0.038462 1 FERMT2 10979 __UNKNOWN__ __UNKNOWN__ 14 53415359 53415359 __UNKNOWN__ Intron SNP A A G rs17125973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:53415359A>G ENST00000395631.2 - 2 374 FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000341590.3_Intron|FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000553373.1_Intron Q96AC1 FERM2_HUMAN fermitin family member 2 NA NA cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725) phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547) ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) CATTTAAATTAACATCATTTC 0.274 NA A||| 1409 0.28135 0.1589 0.2046 5008 , , NA 16401 0.3819 NA 0.3191 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z24725 CCDS9713.1, CCDS45107.1, CCDS45108.1 14q22.1 2013-01-10 2010-06-24 2007-12-14 ENSG00000073712 ENSG00000073712 10979 Fermitins, Pleckstrin homology (PH) domain containing 15767 protein-coding gene gene with protein product kindlin-2 607746 pleckstrin homology domain containing, family C (with FERM domain) member 1, fermitin family homolog 2 (Drosophila) PLEKHC1 NA 8175911, 12697302 Standard NM_006832 NM_006832 NA Approved mig-2, KIND2, UNC112B uc001xac.3 Q96AC1 OTTHUMG00000140309 ENST00000395631.2:c.157+1770T>C chr14.hg19:g.53415359A>G NA B5TJY2|Q14840|Q86TY7 hg19 CCDS9713.1 0.02 2.211942 ATTxACA COVERED NOVEL FERMT2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276907.2 0 6.61559 KEEP 0 0 0 22 602 AA 0.999879 0.998746 0 - 4 60 155 0 0 10.580996 73 60 2591 105 ENST00000395631.2 0.051948 0.998867 BMP4 652 __UNKNOWN__ __UNKNOWN__ 14 54419002 54419002 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:54419002G>C ENST00000245451.4 - 3 387 BMP4_ENST00000417573.1_Intron|BMP4_ENST00000559087.1_Intron|BMP4_ENST00000558984.1_Intron NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 NA NA activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201) breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 CCAATAAATAGGGAGAAATAG 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF035427 CCDS9715.1 14q22-q23 2014-01-30 ENSG00000125378 ENSG00000125378 652 Bone morphogenetic proteins, Endogenous ligands 1071 protein-coding gene gene with protein product 112262 BMP2B NA 7558046, 7579580 Standard NM_001202 NM_001202 NA Approved uc010aoh.3 P12644 OTTHUMG00000140303 ENST00000245451.4:c.7-55C>G chr14.hg19:g.54419002G>C NA Q9UM80 hg19 CCDS9715.1 0.02 10.705143 ATAxGGA COVERED NOVEL BMP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276894.2 1 18.659744 KEEP 0 0 0 62 2113 GG 1 1 0 - 16 60 525 0 0 32.265889 318 60 11451 438 ENST00000245451.4 0.047904 1 CNIH1 10175 __UNKNOWN__ __UNKNOWN__ 14 54903617 54903617 __UNKNOWN__ Intron SNP C C A rs2298078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:54903617C>A ENST00000395573.4 - 2 145 CNIH1_ENST00000557690.1_Intron|CNIH1_ENST00000216416.4_Intron|CNIH1_ENST00000556113.1_Intron|CNIH1_ENST00000553660.1_Intron O95406 CNIH1_HUMAN cornichon family AMPA receptor auxiliary protein 1 NA NA immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)|vesicle-mediated transport (GO:0016192) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NA ataatgccatcgatatggctt 0.463 NA C||| 644 0.128594 0.0938 0.0591 5008 , , NA 20999 0.2847 NA 0.0427 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF031379 CCDS9717.1 14q22.1 2013-08-28 2013-08-28 2013-08-28 ENSG00000100528 ENSG00000100528 10175 19431 protein-coding gene gene with protein product 611287 cornichon homolog (Drosophila) CNIH NA 10209299 Standard NM_005776 NM_005776 NA Approved TGAM77, CNIL uc001xat.1 O95406 OTTHUMG00000152335 ENST00000395573.4:c.82-462G>T chr14.hg19:g.54903617C>A NA Q3SYM7 hg19 0.02 12.730273 CATxGAT COVERED NOVEL CNIH1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411164.1 0 18.659107 KEEP 0 0 0 62 2081 CC 1 1 0 - 17 60 582 0 0 37.507798 302 60 10361 458 ENST00000395573.4 0.053292 1 GMFB 2764 __UNKNOWN__ __UNKNOWN__ 14 54955909 54955909 __UNKNOWN__ 5'UTR SNP G G A rs61985950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:54955909G>A ENST00000358056.3 - 0 5 NM_004124.2 NP_004115.1 P60983 GMFB_HUMAN glia maturation factor, beta NA NA learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of protein kinase activity (GO:0006469)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165) intracellular (GO:0005622) enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)|signal transducer activity (GO:0004871) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1) 8 CTGCCTGGCTGCAAGTGAGAA 0.408 NA G||| 612 0.122204 0.0862 0.0562 5008 , , NA 14019 0.2609 NA 0.0447 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M86492 CCDS9718.1 14q22.2 2010-07-06 ENSG00000197045 ENSG00000197045 2764 4373 protein-coding gene gene with protein product 601713 NA 1712830 Standard NM_004124 NM_004124 NA Approved GMF uc021rtf.1 P60983 OTTHUMG00000140307 ENST00000358056.3:c.-264C>T chr14.hg19:g.54955909G>A NA B2R499|P17774|Q9BS35 hg19 CCDS9718.1 0.02 2.017716 GCTxCAA COVERED NOVEL GMFB-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276903.2 0 13.845107 KEEP 0 0 0 46 1633 GG 1 0.993703 0 - 5 60 176 0 0 12.332514 60 60 2261 127 ENST00000358056.3 0.076923 0.993703 SAMD4A 23034 __UNKNOWN__ __UNKNOWN__ 14 55218161 55218161 __UNKNOWN__ Intron SNP A A C rs2295820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:55218161A>C ENST00000554335.1 + 6 1752 SAMD4A_ENST00000392067.3_Intron|SAMD4A_ENST00000357634.3_Intron|SAMD4A_ENST00000251091.5_Intron Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A NA NA negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727) cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202) poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CTTGTTATTTAATTACAGAAT 0.308 NA A||| 1673 0.334065 0.1467 0.3631 5008 , , NA 18098 0.3075 NA 0.5437 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 A , 980,3426 361.4+/-315.7 118,744,1341 66 73 70 , -3.4 0 14 dbSNP_100 70 4691,3909 602.4+/-394.5 1285,2121,894 no intron,intron SAMD4A NM_001161576.2,NM_015589.5 , 1403,2865,2235 CC,CA,AA 45.4535,22.2424,43.603 , , 55218161 5671,7335 2203 4300 6503 SO:0001627 intron_variant AB028976 CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2 14q22.2 2013-01-10 2006-01-27 2006-01-27 ENSG00000020577 ENSG00000020577 23034 Sterile alpha motif (SAM) domain containing 23023 protein-coding gene gene with protein product smaug homolog (Drosophila) 610747 sterile alpha motif domain containing 4 SAMD4 NA 16221671 Standard NM_015589 NM_001161577 NA Approved KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1 uc001xbb.4 Q9UPU9 OTTHUMG00000170999 ENST00000554335.1:c.1090-8A>C chr14.hg19:g.55218161A>C NA A8MPZ5|Q0VA96|Q6PEW4 hg19 CCDS32084.2 0.02 1.99818 TTTxATT COVERED NOVEL SAMD4A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411186.1 1 5.114573 KEEP 0 0 0 17 523 AA 0.999366 0.999202 0 + 4 60 143 0 0 9.107755 86 60 3002 115 ENST00000554335.1 0.044444 0.999835 KTN1 3895 __UNKNOWN__ __UNKNOWN__ 14 56111102 56111102 __UNKNOWN__ Intron SNP A A C rs10131087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:56111102A>C ENST00000395314.3 + 19 2240 KTN1_ENST00000395311.1_Intron|KTN1_ENST00000438792.2_Intron|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000416613.1_Intron|KTN1_ENST00000554507.1_5'UTR|KTN1_ENST00000395309.3_Intron|KTN1_ENST00000413890.2_Intron NM_001079521.1 NP_001072989.1 Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) NA NA microtubule-based movement (GO:0007018) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) poly(A) RNA binding (GO:0044822) breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GCAGAAACCAATAATGGTGCC 0.383 NA T RET papillary thryoid A||| 512 0.102236 0.323 0.0519 5008 , , NA 16787 0.0089 NA 0.0338 False NA ,,, NA NA NA 2504 0.0061 NA NA NA Dom yes 14 14q22.1 3895 kinectin 1 (kinesin receptor) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS41957.1, CCDS41958.1, CCDS41959.1 14q22.1 2008-05-02 ENSG00000126777 ENSG00000126777 3895 6467 protein-coding gene gene with protein product 600381 NA 9605849 Standard NM_001079521 NA Approved KIAA0004, CG1 uc001xcc.3 Q86UP2 OTTHUMG00000140312 ENST00000395314.3:c.2173-2589A>C chr14.hg19:g.56111102A>C NA B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57 hg19 CCDS41957.1 0.02 23.056935 CCAxTAA COVERED NOVEL KTN1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276912.2 2 30.092051 KEEP 0 0 0 100 3227 AA 1 1 0 + 20 60 760 0 0 48.441929 518 60 18917 768 ENST00000395314.3 0.037175 1 RP11-813I20.2 0 __UNKNOWN__ __UNKNOWN__ 14 56232970 56232970 __UNKNOWN__ lincRNA SNP T T C rs2184557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:56232970T>C ENST00000554458.1 + 0 75 RPL13AP3_ENST00000494676.1_RNA NA NA NA CGTGGCTAAGTAGTTACTGCT 0.587 NA C||| 3286 0.65615 0.9221 0.4914 5008 , , NA 16651 0.756 NA 0.3678 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000554458.1: chr14.hg19:g.56232970T>C NA hg19 0.02 -0.245497 AAGxAGT COVERED NOVEL RP11-813I20.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000411474.1 0 3.309497 KEEP 0 0 0 11 331 TT 0.993072 0.636904 0 + 3 60 117 0 0 8.992142 25 60 850 53 ENST00000554458.1 0.107143 0.641347 TMEM260 54916 __UNKNOWN__ __UNKNOWN__ 14 57046606 57046606 __UNKNOWN__ 5'UTR SNP T T A rs10150734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:57046606T>A ENST00000261556.6 + 0 96 TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_5'UTR NM_017799.3 NP_060269.3 Q9NX78 TM260_HUMAN transmembrane protein 260 NA NA integral component of membrane (GO:0016021) NA GCTGGCCGTGTCCTTCTCCCT 0.751 NA T||| 424 0.0846645 0.0817 0.0447 5008 , , NA 12403 0.1875 NA 0.0427 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 T 159,2983 0,159,1412 2 2 2 -6.1 0 14 dbSNP_119 2 185,5971 0,185,2893 no utr-5 C14orf101 NM_017799.3 0,344,4305 AA,AT,TT 3.0052,5.0605,3.6997 57046606 344,8954 1571 3078 4649 SO:0001623 5_prime_UTR_variant AK000399 CCDS9727.2 14q22.2 2013-03-08 2013-03-08 2013-03-08 ENSG00000070269 ENSG00000070269 54916 20185 protein-coding gene gene with protein product chromosome 14 open reading frame 101 C14orf101 NA Standard NM_017799 XR_245695 NA Approved FLJ20392 uc001xcm.3 Q9NX78 OTTHUMG00000152337 ENST00000261556.6:c.-27T>A chr14.hg19:g.57046606T>A NA A8KAN4|B3KPF5|Q86XE1 hg19 CCDS9727.2 0.02 -0.412252 GTGxCCT COVERED NOVEL TMEM260-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276924.1 0 6.016991 KEEP 0 0 0 20 609 TT 0.999863 0.941612 0 + 4 60 128 0 0 8.771253 43 60 1467 90 ENST00000261556.6 0.085106 0.941741 TMEM260 54916 __UNKNOWN__ __UNKNOWN__ 14 57088433 57088433 __UNKNOWN__ Intron SNP A A T rs12589087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:57088433A>T ENST00000261556.6 + 11 1520 TMEM260_ENST00000536419.1_Intron|TMEM260_ENST00000538838.1_Intron NM_017799.3 NP_060269.3 Q9NX78 TM260_HUMAN transmembrane protein 260 NA NA integral component of membrane (GO:0016021) NA AAGTATATGAAAAATATACTT 0.353 NA A||| 645 0.128794 0.2466 0.0591 5008 , , NA 17373 0.1835 NA 0.0408 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 A 1023,3383 367.8+/-318.4 125,773,1305 52 51 51 2.6 0 14 dbSNP_120 51 458,8142 134.3+/-191.7 12,434,3854 no intron C14orf101 NM_017799.3 137,1207,5159 TT,TA,AA 5.3256,23.2183,11.3871 57088433 1481,11525 2203 4300 6503 SO:0001627 intron_variant AK000399 CCDS9727.2 14q22.2 2013-03-08 2013-03-08 2013-03-08 ENSG00000070269 ENSG00000070269 54916 20185 protein-coding gene gene with protein product chromosome 14 open reading frame 101 C14orf101 NA Standard NM_017799 XR_245695 NA Approved FLJ20392 uc001xcm.3 Q9NX78 OTTHUMG00000152337 ENST00000261556.6:c.1398+13A>T chr14.hg19:g.57088433A>T NA A8KAN4|B3KPF5|Q86XE1 hg19 CCDS9727.2 0.02 8.085463 TGAxAAA COVERED NOVEL TMEM260-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276924.1 0 6.015533 KEEP 0 0 0 20 579 AA 0.999863 0.999863 0 + 7 60 252 0 0 14.719694 240 60 8556 278 ENST00000261556.6 0.02834 1 TMEM260 54916 __UNKNOWN__ __UNKNOWN__ 14 57114385 57114385 __UNKNOWN__ 3'UTR SNP G G A rs4901706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:57114385G>A ENST00000261556.6 + 0 2416 RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_3'UTR|RP11-1085N6.2_ENST00000553800.1_RNA NM_017799.3 NP_060269.3 Q9NX78 TM260_HUMAN transmembrane protein 260 NA NA integral component of membrane (GO:0016021) NA AGTGACTAAGGTCTGCTATTT 0.353 NA G||| 833 0.166334 0.2042 0.1657 5008 , , NA 17875 0.3214 NA 0.0507 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000399 CCDS9727.2 14q22.2 2013-03-08 2013-03-08 2013-03-08 ENSG00000070269 ENSG00000070269 54916 20185 protein-coding gene gene with protein product chromosome 14 open reading frame 101 C14orf101 NA Standard NM_017799 XR_245695 NA Approved FLJ20392 uc001xcm.3 Q9NX78 OTTHUMG00000152337 ENST00000261556.6:c.*170G>A chr14.hg19:g.57114385G>A NA A8KAN4|B3KPF5|Q86XE1 hg19 CCDS9727.2 0.02 6.345979 AAGxTCT COVERED NOVEL TMEM260-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276924.1 1 9.330667 KEEP 0 0 0 31 1123 GG 0.999997 0.999997 0 + 7 60 259 0 0 16.516175 166 70 6043 234 ENST00000261556.6 0.040462 1 NAA30 122830 __UNKNOWN__ __UNKNOWN__ 14 57878487 57878487 __UNKNOWN__ 3'UTR SNP A A C rs77730180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:57878487A>C ENST00000556492.1 + 0 3496 NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit NA NA metabolic process (GO:0008152) cytoplasm (GO:0005737)|NatC complex (GO:0031417) peptide alpha-N-acetyltransferase activity (GO:0004596) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 AAGTAGATTAAAATTTTAACC 0.333 NA A||| 149 0.0297524 0.0688 0.0029 5008 , , NA 18404 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092674 CCDS32088.1 14q22.2 2010-05-07 2010-01-14 2010-01-14 ENSG00000139977 122830 2.3.1.88 N(alpha)-acetyltransferase subunits 19844 protein-coding gene gene with protein product chromosome 14 open reading frame 35, N-acetyltransferase 12, N-acetyltransferase 12 (GCN5-related, putative) C14orf35, NAT12 NA 19660095 Standard NM_001011713 NM_001011713 NA Approved FLJ35355, MAK3, Mak3p uc001xcx.4 Q147X3 ENST00000556492.1:c.*2253A>C chr14.hg19:g.57878487A>C NA Q0IIN2 hg19 CCDS32088.1 0.02 4.359084 TTAxAAT COVERED NOVEL NAA30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412925.1 3 11.734549 KEEP 0 0 0 39 1216 AA 1 1 0 + 7 60 264 0 0 17.458865 143 60 5184 220 ENST00000556492.1 0.046667 1 NAA30 122830 __UNKNOWN__ __UNKNOWN__ 14 57878489 57878489 __UNKNOWN__ 3'UTR SNP A A G rs75026674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:57878489A>G ENST00000556492.1 + 0 3498 NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit NA NA metabolic process (GO:0008152) cytoplasm (GO:0005737)|NatC complex (GO:0031417) peptide alpha-N-acetyltransferase activity (GO:0004596) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 GTAGATTAAAATTTTAACCTC 0.338 NA A||| 57 0.0113818 0.0008 0.0 5008 , , NA 18511 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092674 CCDS32088.1 14q22.2 2010-05-07 2010-01-14 2010-01-14 ENSG00000139977 122830 2.3.1.88 N(alpha)-acetyltransferase subunits 19844 protein-coding gene gene with protein product chromosome 14 open reading frame 35, N-acetyltransferase 12, N-acetyltransferase 12 (GCN5-related, putative) C14orf35, NAT12 NA 19660095 Standard NM_001011713 NM_001011713 NA Approved FLJ35355, MAK3, Mak3p uc001xcx.4 Q147X3 ENST00000556492.1:c.*2255A>G chr14.hg19:g.57878489A>G NA Q0IIN2 hg19 CCDS32088.1 0.02 7.020645 AAAxTTT COVERED NOVEL NAA30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412925.1 3 12.035266 KEEP 0 0 0 40 1239 AA 1 1 0 + 6 60 226 0 0 14.473611 147 60 5356 225 ENST00000556492.1 0.039216 1 NAA30 122830 __UNKNOWN__ __UNKNOWN__ 14 57880084 57880084 __UNKNOWN__ 3'UTR SNP A A G rs75378417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:57880084A>G ENST00000556492.1 + 0 5093 NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit NA NA metabolic process (GO:0008152) cytoplasm (GO:0005737)|NatC complex (GO:0031417) peptide alpha-N-acetyltransferase activity (GO:0004596) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 AGTTTGTTTTATTTGGGCCTT 0.303 NA A||| 127 0.0253594 0.0522 0.0029 5008 , , NA 17891 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092674 CCDS32088.1 14q22.2 2010-05-07 2010-01-14 2010-01-14 ENSG00000139977 122830 2.3.1.88 N(alpha)-acetyltransferase subunits 19844 protein-coding gene gene with protein product chromosome 14 open reading frame 35, N-acetyltransferase 12, N-acetyltransferase 12 (GCN5-related, putative) C14orf35, NAT12 NA 19660095 Standard NM_001011713 NM_001011713 NA Approved FLJ35355, MAK3, Mak3p uc001xcx.4 Q147X3 ENST00000556492.1:c.*3850A>G chr14.hg19:g.57880084A>G NA Q0IIN2 hg19 CCDS32088.1 0.02 3.792199 TTTxTTT COVERED NOVEL NAA30-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412925.1 2 5.414245 KEEP 0 0 0 18 555 AA 0.999859 0.999859 0 + 5 60 184 0 0 11.50185 130 60 4768 179 ENST00000556492.1 0.037037 1 SLC35F4 341880 __UNKNOWN__ __UNKNOWN__ 14 58060862 58060862 __UNKNOWN__ Intron SNP G G A rs17724076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:58060862G>A ENST00000554729.1 - 2 99 SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000339762.6_Intron A4IF30 S35F4_HUMAN solute carrier family 35, member F4 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGAGTTCACGCCAGTTTGAG 0.438 NA G||| 1290 0.257588 0.2073 0.2464 5008 , , NA 20002 0.2222 NA 0.3608 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 G 840,2938 100,640,1149 56 53 54 -2.6 0 14 dbSNP_123 54 2736,5466 439,1858,1804 no intron SLC35F4 NM_001206920.1 539,2498,2953 AA,AG,GG 33.3577,22.234,29.8497 58060862 3576,8404 1889 4101 5990 SO:0001627 intron_variant 14q22.3 2013-05-22 2003-11-28 ENSG00000151812 ENSG00000151812 341880 Solute carriers 19845 protein-coding gene gene with protein product chromosome 14 open reading frame 36 C14orf36 NA Standard XM_292260 NM_001206920 NA Approved FLJ37712 uc021rtp.1 A4IF30 OTTHUMG00000171317 ENST00000554729.1:c.263-20C>T chr14.hg19:g.58060862G>A NA A6NDQ3 hg19 0.02 1.745758 CACxCCA COVERED NOVEL SLC35F4-001 PUTATIVE upstream_uORF|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412954.2 0 3.912676 KEEP 0 0 0 13 457 GG 0.994391 0.994321 0 - 9 60 304 0 0 21.727462 87 60 3199 131 ENST00000554729.1 0.09375 0.99993 C14orf37 145407 __UNKNOWN__ __UNKNOWN__ 14 58468088 58468088 __UNKNOWN__ 3'UTR SNP C C A rs2747102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:58468088C>A ENST00000267485.7 - 0 5885 NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 NA NA integral component of membrane (GO:0016021) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 tgaacacaggcgtacagatac 0.313 NA A||| 1900 0.379393 0.2806 0.3343 5008 , , NA 20242 0.5843 NA 0.3658 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32089.1 14q23.1 2012-09-03 ENSG00000139971 ENSG00000139971 145407 19846 protein-coding gene gene with protein product NA Standard NM_001001872 NM_001001872 NA Approved uc001xdc.3 Q86TY3 OTTHUMG00000171173 ENST00000267485.7:c.*3366G>T chr14.hg19:g.58468088C>A NA A8K8Z8|Q6P5Q1|Q86TY1 hg19 CCDS32089.1 0.02 2.513605 AGGxGTA COVERED NOVEL C14orf37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412059.1 0 2.708944 KEEP 0 0 0 9 326 CC 0.99254 0.9667 0 - 4 60 149 0 0 10.617367 50 60 1795 77 ENST00000267485.7 0.074074 0.973965 C14orf37 145407 __UNKNOWN__ __UNKNOWN__ 14 58470403 58470403 __UNKNOWN__ 3'UTR SNP G G A rs2747104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:58470403G>A ENST00000267485.7 - 0 3570 NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 NA NA integral component of membrane (GO:0016021) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 AGAGAGGCTGGTTTCCCATGA 0.433 NA G||| 1394 0.278355 0.0605 0.2695 5008 , , NA 19714 0.5853 NA 0.2465 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32089.1 14q23.1 2012-09-03 ENSG00000139971 ENSG00000139971 145407 19846 protein-coding gene gene with protein product NA Standard NM_001001872 NM_001001872 NA Approved uc001xdc.3 Q86TY3 OTTHUMG00000171173 ENST00000267485.7:c.*1051C>T chr14.hg19:g.58470403G>A NA A8K8Z8|Q6P5Q1|Q86TY1 hg19 CCDS32089.1 0.02 4.14626 CTGxTTT COVERED NOVEL C14orf37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412059.1 1 5.116254 KEEP 0 0 0 17 588 GG 0.999366 0.999356 0 - 9 60 327 0 0 23.619572 97 60 3665 147 ENST00000267485.7 0.084906 0.999989 KIAA0586 9786 __UNKNOWN__ __UNKNOWN__ 14 58934705 58934705 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:58934705C>T ENST00000354386.6 + 18 2845 KIAA0586_ENST00000261244.5_Intron|KIAA0586_ENST00000556134.1_Intron|KIAA0586_ENST00000423743.3_Intron|KIAA0586_ENST00000538571.2_Intron NM_001244189.1 NP_001231118.1 Q9BVV6 TALD3_HUMAN KIAA0586 NA NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737) endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AACGTTAGTACGGAAATCCAT 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011158 CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1 14q23.1 2012-12-06 ENSG00000100578 ENSG00000100578 9786 19960 protein-coding gene gene with protein product 610178 NA 16702409 Standard NM_014749 NM_014749 NA Approved Talpid3 uc010trr.2 Q9BVV6 OTTHUMG00000171141 ENST00000354386.6:c.2601+65C>T chr14.hg19:g.58934705C>T NA B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20 hg19 CCDS58320.1 0.02 4.340616 GTAxGGA COVERED NOVEL KIAA0586-003 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411987.1 0 3.008483 KEEP 0 0 0 10 310 CC 0.992708 0.992706 0 + 7 60 262 0 0 18.007491 111 60 3606 132 ENST00000354386.6 0.059322 0.999998 KIAA0586 9786 __UNKNOWN__ __UNKNOWN__ 14 58949430 58949430 __UNKNOWN__ Splice_Site SNP G G A rs540255320 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:58949430G>A ENST00000354386.6 + 23 3547 c.3303G>A c.(3301-3303)ccG>ccA p.P1101P KIAA0586_ENST00000261244.5_Splice_Site_p.P972P|KIAA0586_ENST00000556134.1_Splice_Site_p.P1033P|KIAA0586_ENST00000423743.3_Splice_Site_p.P1004P|KIAA0586_ENST00000538571.2_3'UTR NM_001244189.1 NP_001231118.1 Q9BVV6 TALD3_HUMAN KIAA0586 1033 NA cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737) endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CATATTTGCCGGTATGGGGAA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 86 86 86 NA NA 14 NA 58949430 1825 4087 5912 SO:0001630 splice_region_variant AB011158 CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1 14q23.1 2012-12-06 ENSG00000100578 ENSG00000100578 9786 19960 protein-coding gene gene with protein product 610178 NA 16702409 Standard NM_014749 NM_014749 NA Approved Talpid3 uc010trr.2 Q9BVV6 OTTHUMG00000171141 ENST00000354386.6:c.3303+1G>A chr14.hg19:g.58949430G>A NA B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20 hg19 CCDS58320.1 0.02 6.475783 GCCxGTA COVERED NOVEL KIAA0586-003 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000411987.1 0 12.640621 KEEP 0 0 0 42 1434 GG 1 1 0 Silent + 8 60 276 0 0 17.361565 173 60 6153 278 ENST00000354386.6 0.044199 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 59261651 59261651 __UNKNOWN__ IGR SNP G G A rs10483703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:59261651G>A NA NA AL121819.1 (23687 upstream) : RP11-112J1.2 (33300 downstream) NA NA NA AACGTAATGAGGATGAAGATT 0.413 NA G||| 671 0.133986 0.0 0.0317 5008 , , NA 19284 0.5109 NA 0.0726 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.59261651G>A NA hg19 0.02 -0.280741 TGAxGAT COVERED NOVEL 0 0 2.407309 KEEP 0 0 0 8 263 GG 0.99257 0.734176 0 4 60 155 0 0 12.172823 28 60 1006 43 0.125 0.739671 DAAM1 23002 __UNKNOWN__ __UNKNOWN__ 14 59781871 59781871 __UNKNOWN__ Intron SNP C C T rs3818289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:59781871C>T ENST00000395125.1 + 3 296 DAAM1_ENST00000351081.1_Intron|DAAM1_ENST00000360909.3_Intron NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 NA NA actin cytoskeleton organization (GO:0030036) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) identical protein binding (GO:0042802) breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AAAATAAATACGTCATACCTT 0.433 NA C||| 1215 0.242612 0.2746 0.2651 5008 , , NA 20658 0.2897 NA 0.1759 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014566 CCDS9737.1, CCDS58323.1 14q22.3 2008-08-11 ENSG00000100592 ENSG00000100592 23002 18142 protein-coding gene gene with protein product 606626 NA 11779461, 18162551 Standard NM_014992 NM_014992 NA Approved KIAA0666 uc031qou.1 Q9Y4D1 OTTHUMG00000140326 ENST00000395125.1:c.274-127C>T chr14.hg19:g.59781871C>T NA Q86U34|Q8N1Z8|Q8TB39 hg19 CCDS9737.1 0.02 6.742034 ATAxGTC COVERED NOVEL DAAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276942.2 1 2.708091 KEEP 0 0 0 9 299 CC 0.99254 0.99254 0 + 9 60 341 0 0 23.302337 153 60 5548 175 ENST00000395125.1 0.055556 1 DAAM1 23002 __UNKNOWN__ __UNKNOWN__ 14 59814502 59814502 __UNKNOWN__ Intron SNP C C A rs941886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:59814502C>A ENST00000395125.1 + 17 2213 DAAM1_ENST00000351081.1_Intron|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Intron NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 NA NA actin cytoskeleton organization (GO:0030036) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) identical protein binding (GO:0042802) breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AACTTAATGACCTTATTCTCT 0.438 NA C||| 3307 0.660343 0.6278 0.5663 5008 , , NA 20991 0.8532 NA 0.6521 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014566 CCDS9737.1, CCDS58323.1 14q22.3 2008-08-11 ENSG00000100592 ENSG00000100592 23002 18142 protein-coding gene gene with protein product 606626 NA 11779461, 18162551 Standard NM_014992 NM_014992 NA Approved KIAA0666 uc031qou.1 Q9Y4D1 OTTHUMG00000140326 ENST00000395125.1:c.2190+161C>A chr14.hg19:g.59814502C>A NA Q86U34|Q8N1Z8|Q8TB39 hg19 CCDS9737.1 0.02 1.942783 TGAxCTT COVERED NOVEL DAAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276942.2 1 5.717551 KEEP 0 0 0 19 626 CC 0.99986 0.999482 0 + 6 60 215 0 0 14.949144 79 60 2827 105 ENST00000395125.1 0.070588 0.999622 DAAM1 23002 __UNKNOWN__ __UNKNOWN__ 14 59835972 59835972 __UNKNOWN__ 3'UTR SNP A A C rs3742647|rs574229930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:59835972A>C ENST00000395125.1 + 0 3655 DAAM1_ENST00000351081.1_3'UTR|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_3'UTR NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 NA NA actin cytoskeleton organization (GO:0030036) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725) identical protein binding (GO:0042802) breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AACAAACAAAAAAAGCTTGCA 0.318 NA A||| 2069 0.413139 0.0787 0.3862 5008 , , NA 17790 0.7907 NA 0.4205 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB014566 CCDS9737.1, CCDS58323.1 14q22.3 2008-08-11 ENSG00000100592 ENSG00000100592 23002 18142 protein-coding gene gene with protein product 606626 NA 11779461, 18162551 Standard NM_014992 NM_014992 NA Approved KIAA0666 uc031qou.1 Q9Y4D1 OTTHUMG00000140326 ENST00000395125.1:c.*395A>C chr14.hg19:g.59835972A>C NA Q86U34|Q8N1Z8|Q8TB39 hg19 CCDS9737.1 0.02 4.674983 AAAxAAA COVERED NOVEL DAAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276942.2 4 18.349862 KEEP 0 0 0 61 1864 AA 1 0.999996 0 + 8 60 308 0 0 22.039154 106 60 3770 210 ENST00000395125.1 0.070175 0.999996 CCDC175 729665 __UNKNOWN__ __UNKNOWN__ 14 60004844 60004844 __UNKNOWN__ Missense_Mutation SNP C C T rs4261431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:60004844C>T ENST00000537690.2 - 13 1575 c.1520G>A c.(1519-1521)gGa>gAa p.G507E CCDC175_ENST00000281581.4_Missense_Mutation_p.G507E NM_001164399.1 NP_001157871.1 P0C221 CC175_HUMAN coiled-coil domain containing 175 507 NA G -> E (in dbSNP:rs4261431). NA TGCCACAAATCCACTGATCTC 0.323 NA T||| 2663 0.531749 0.2965 0.4827 5008 , , NA 16872 0.8165 NA 0.5646 False NA ,,, NA NA NA 2504 0.5573 NA NA NA NA 0 T GLU/GLY 473,911 76,321,295 162 123 135 1520 2.4 0 14 dbSNP_111 135 1843,1339 532,779,280 yes missense C14orf38 NM_001164399.1 98 608,1100,575 TT,TC,CC 42.0805,34.1763,49.2773 507/794 60004844 2316,2250 692 1591 2283 SO:0001583 missense CCDS53898.1 14q23.1 2012-09-24 2012-09-24 2012-09-24 ENSG00000151838 ENSG00000151838 729665 19847 protein-coding gene gene with protein product chromosome 14 open reading frame 38 C14orf38 NA Standard NM_001164399 NM_001164399 NA Approved uc021rtw.1 P0C221 ENST00000537690.2:c.1520G>A chr14.hg19:g.60004844C>T ENSP00000453940:p.Gly507Glu NA G3V5J7 hg19 CCDS53898.1 0.02 9.234631 AATxCAC COVERED 1266 0.5796703296703297 164 0.3333333333333333 184 0.5082872928176796 478 0.8356643356643356 440 0.5804749340369393 T 0.017 -1.508651 0.00984 0.341763 0.579195 ENSG00000151838 ENST00000555041 . . . 4.94 2.43 0.29744 . 0.896444 0.09365 N 0.812168 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 . . . . . . T 0.38457 -0.9660 6 0.02654 T 1 -1.6429 4.4497 0.11614 0.0:0.1786:0.167:0.6543 rs4261431;rs17834190;rs52829619;rs57511261;rs4261431 . . . E 507 . ENSP00000281581:G507E G - 2 0 C14orf38 59074597 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.265000 0.08644 0.081000 0.16988 -0.361000 0.07541 GGA NOVEL CCDC175-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471273.1 1 6.01953 KEEP 0 0 0 20 697 CC 0.999863 0.999863 0 - 11 60 407 0 0 27.285744 196 60 7372 284 ENST00000537690.2 0.05314 1 CCDC175 729665 __UNKNOWN__ __UNKNOWN__ 14 60031996 60031996 __UNKNOWN__ Intron SNP G G A rs1980580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:60031996G>A ENST00000537690.2 - 5 547 CCDC175_ENST00000281581.4_Intron NM_001164399.1 NP_001157871.1 P0C221 CC175_HUMAN coiled-coil domain containing 175 NA NA NA GCTTCTCCCTGGGAGGAAAGA 0.458 NA G||| 2328 0.464856 0.1157 0.4539 5008 , , NA 19418 0.8095 NA 0.5139 False NA ,,, NA NA NA 2504 0.5389 NA NA NA NA 0 G 236,1148 17,202,473 103 80 87 -2.1 0 14 dbSNP_92 87 1676,1506 451,774,366 no intron C14orf38 NM_001164399.1 468,976,839 AA,AG,GG 47.3287,17.052,41.8747 60031996 1912,2654 692 1591 2283 SO:0001627 intron_variant CCDS53898.1 14q23.1 2012-09-24 2012-09-24 2012-09-24 ENSG00000151838 ENSG00000151838 729665 19847 protein-coding gene gene with protein product chromosome 14 open reading frame 38 C14orf38 NA Standard NM_001164399 NM_001164399 NA Approved uc021rtw.1 P0C221 ENST00000537690.2:c.492-3C>T chr14.hg19:g.60031996G>A NA G3V5J7 hg19 CCDS53898.1 0.02 8.575588 CCTxGGA COVERED NOVEL CCDC175-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471273.1 1 5.116057 KEEP 0 0 0 17 575 GG 0.999366 0.999366 0 - 9 60 333 0 0 20.803838 239 60 8893 307 ENST00000537690.2 0.03629 1 CCDC175 729665 __UNKNOWN__ __UNKNOWN__ 14 60032046 60032046 __UNKNOWN__ Intron SNP A A G rs1980579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:60032046A>G ENST00000537690.2 - 5 547 CCDC175_ENST00000281581.4_Intron NM_001164399.1 NP_001157871.1 P0C221 CC175_HUMAN coiled-coil domain containing 175 NA NA NA TAAGAAAGGAATAGTCTGTGT 0.448 NA A||| 2682 0.535543 0.3041 0.4928 5008 , , NA 20601 0.8145 NA 0.5676 False NA ,,, NA NA NA 2504 0.5583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS53898.1 14q23.1 2012-09-24 2012-09-24 2012-09-24 ENSG00000151838 ENSG00000151838 729665 19847 protein-coding gene gene with protein product chromosome 14 open reading frame 38 C14orf38 NA Standard NM_001164399 NM_001164399 NA Approved uc021rtw.1 P0C221 ENST00000537690.2:c.492-53T>C chr14.hg19:g.60032046A>G NA G3V5J7 hg19 CCDS53898.1 0.02 6.525231 GGAxTAG COVERED NOVEL CCDC175-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471273.1 1 2.405192 KEEP 0 0 0 8 221 AA 0.99257 0.99257 0 - 7 60 230 0 0 14.041246 157 60 5756 175 ENST00000537690.2 0.042683 1 PCNXL4 64430 __UNKNOWN__ __UNKNOWN__ 14 60591199 60591199 __UNKNOWN__ Missense_Mutation SNP A A T rs3742642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:60591199A>T ENST00000406854.1 + 9 2864 c.2310A>T c.(2308-2310)caA>caT p.Q770H PCNXL4_ENST00000404681.2_Missense_Mutation_p.Q770H|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000317623.4_Missense_Mutation_p.Q536H|PCNXL4_ENST00000406949.1_Missense_Mutation_p.Q536H Q63HM2 PCX4_HUMAN pecanex-like 4 (Drosophila) 770 NA Q -> H (in dbSNP:rs3742642). integral component of membrane (GO:0016021) NA TACTTGTTCAATACTGCTCCA 0.388 NA A||| 243 0.0485224 0.031 0.0 5008 , , NA 18707 0.1706 NA 0.0 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 A HIS/GLN 120,4284 88.7+/-127.4 0,120,2082 98 103 101 1608 -2 0.9 14 dbSNP_107 101 5,8595 4.3+/-15.6 0,5,4295 yes missense C14orf135 NM_022495.5 24 0,125,6377 TT,TA,AA 0.0581,2.7248,0.9612 benign 536/939 60591199 125,12879 2202 4300 6502 SO:0001583 missense AK022861 14q23.1 2012-07-18 2012-07-18 2012-07-18 ENSG00000126773 ENSG00000126773 64430 20349 protein-coding gene gene with protein product chromosome 14 open reading frame 135 C14orf135 NA Standard NM_022495 NM_022495 NA Approved uc001xer.4 Q63HM2 OTTHUMG00000150361 ENST00000406854.1:c.2310A>T chr14.hg19:g.60591199A>T ENSP00000384801:p.Gln770His NA A8MXM2|Q9BQG8|Q9H9F2 hg19 0.02 9.828318 TCAxTAC COVERED 107 0.04899267399267399 10 0.02032520325203252 1 0.0027624309392265192 96 0.16783216783216784 0 0.0 A 6.844 0.525034 0.13066 0.027248 5.81E-4 ENSG00000126773 ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681 T;T;T;T 0.23348 1.92;1.91;1.91;1.91 5.69 -2.05 0.07321 . 0.447196 0.28360 N 0.015628 T 0.00039 0.0001 N 0.17872 0.535 0.35919 P 0.168296 B;B 0.10296 0.001;0.003 B;B 0.06405 0.002;0.002 T 0.28235 -1.0050 9 0.19590 T 0.45 . 1.7066 0.02883 0.2809:0.102:0.4092:0.2078 rs3742642;rs3742642 770;536 Q63HM2;B5MC47 CN135_HUMAN;. H 536;770;536;770 ENSP00000317396:Q536H;ENSP00000384801:Q770H;ENSP00000385201:Q536H;ENSP00000385713:Q770H ENSP00000317396:Q536H Q + 3 2 C14orf135 59660952 0.946000 0.32159 0.937000 0.37676 0.904000 0.53231 0.416000 0.21198 0.012000 0.14892 -1.007000 0.02485 CAA NOVEL PCNXL4-005 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000317847.1 1 12.94009 KEEP 0 0 0 43 1405 AA 1 1 0 + 9 60 316 0 0 18.380636 289 60 10300 362 ENST00000406854.1 0.030201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 60864583 60864583 __UNKNOWN__ IGR SNP G G T rs1254293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:60864583G>T NA NA CTD-2568P8.1 (73958 upstream) : C14orf39 (38090 downstream) NA NA NA GAAACAGAAGGGTCGCGGCTT 0.567 NA -||| 2277 0.454673 0.4955 0.2378 5008 , , NA 17644 0.6944 NA 0.2932 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.60864583G>T NA hg19 0.02 8.486966 AAGxGTC COVERED NOVEL 0 3 12.338853 KEEP 0 0 0 41 1412 GG 1 1 0 11 60 386 0 0 24.803876 213 60 7861 323 0.049107 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 60900113 60900113 __UNKNOWN__ IGR SNP C C T rs1254316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:60900113C>T NA NA CTD-2568P8.1 (109488 upstream) : C14orf39 (2560 downstream) NA NA NA CCCCTCATTCCGAAAACACTT 0.289 NA T||| 2280 0.455272 0.4939 0.2392 5008 , , NA 12218 0.6964 NA 0.2952 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.60900113C>T NA hg19 0.02 7.420922 TTCxGAA COVERED NOVEL 0 2 6.75677 KEEP 0 1 33 34 1150 CC 0.999999 0.999999 0 6 60 231 0 0 14.974603 147 60 4891 220 0.039216 1 SLC38A6 145389 __UNKNOWN__ __UNKNOWN__ 14 61448049 61448049 __UNKNOWN__ Silent SNP C C G rs17097938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:61448049C>G ENST00000267488.4 + 1 170 c.54C>G c.(52-54)gtC>gtG p.V18V TRMT5_ENST00000261249.6_5'UTR|SLC38A6_ENST00000354886.2_Silent_p.V18V|RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000554304.1_3'UTR NM_153811.2 NP_722518.2 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 18 NA amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) ATGTCTCTGTCCAGCAGCCTG 0.612 NA OREG0007220 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=TRMT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) C||| 176 0.0351438 0.0023 0.0231 5008 , , NA 18153 0.0813 NA 0.0517 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 C , 43,4363 45.3+/-79.5 0,43,2160 70 67 68 54,54 0.9 0 14 dbSNP_123 68 279,8319 101.0+/-162.3 3,273,4023 no coding-synonymous,coding-synonymous SLC38A6 NM_001172702.1,NM_153811.2 , 3,316,6183 GG,GC,CC 3.2449,0.9759,2.4762 , 18/522,18/457 61448049 322,12682 2203 4299 6502 SO:0001819 synonymous_variant AF070578 CCDS9751.1, CCDS53900.1 14q23.1 2013-05-22 ENSG00000139974 ENSG00000139974 145389 Solute carriers 19863 protein-coding gene gene with protein product NA Standard NM_153811 NA Approved NAT-1 uc001xfh.2 Q8IZM9 OTTHUMG00000140335 ENST00000267488.4:c.54C>G chr14.hg19:g.61448049C>G 1053 C9JWA6|Q86SY5 hg19 CCDS9751.1 0.02 7.484124 TGTxCAG COVERED NOVEL SLC38A6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276957.1 2 34.298428 KEEP 0 0 0 114 3952 CC 1 1 0 + 6 60 239 1 0 15.343783 174 60 6299 368 ENST00000267488.4 0.033333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 61609436 61609436 __UNKNOWN__ IGR SNP G G A rs10146367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:61609436G>A NA NA SLC38A6 (58986 upstream) : SNORD112 (120242 downstream) NA NA NA ATACAGGGCTGTCATTGCAGT 0.418 NA G||| 298 0.0595048 0.0779 0.0159 5008 , , NA 20346 0.1548 NA 0.001 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.61609436G>A NA hg19 0.02 2.185897 GCTxTCA COVERED NOVEL 0 0 6.320237 KEEP 0 0 0 21 735 GG 0.999869 0.999088 0 5 60 181 0 0 12.369354 75 60 2824 120 0.0625 0.999218 PRKCH 5583 __UNKNOWN__ __UNKNOWN__ 14 62017135 62017135 __UNKNOWN__ 3'UTR SNP G G A rs3813410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:62017135G>A ENST00000332981.5 + 0 3023 RP11-47I22.4_ENST00000556347.1_Intron|PRKCH_ENST00000555082.1_3'UTR|PRKCH_ENST00000556245.1_3'UTR NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta NA NA blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GCACCAAGACGACTGCTTCAG 0.363 NA A||| 1054 0.210463 0.4327 0.2017 5008 , , NA 20276 0.1409 NA 0.0497 False NA ,,, NA NA NA 2504 0.1534 NA NA NA Melanoma(135;863 1779 8064 14443 26348) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M55284 CCDS9752.1 14q23.1 2009-07-10 ENSG00000027075 ENSG00000027075 5583 2.7.11.1 9403 protein-coding gene gene with protein product 605437 PRKCL NA 1986216, 1545821 Standard NM_006255 NM_006255 NA Approved PKC-L, PKCL uc001xfn.3 P24723 OTTHUMG00000152341 ENST00000332981.5:c.*586G>A chr14.hg19:g.62017135G>A NA B4DJN5|Q16246|Q8NE03 hg19 CCDS9752.1 0.02 9.436052 GACxACT COVERED NOVEL PRKCH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276974.2 1 16.886263 KEEP 0 1 28 66 2216 GG 1 1 0 + 7 60 262 0 0 16.266922 200 60 7092 339 ENST00000332981.5 0.033816 1 PRKCH 5583 __UNKNOWN__ __UNKNOWN__ 14 62017643 62017643 __UNKNOWN__ 3'UTR SNP A A G rs14095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:62017643A>G ENST00000332981.5 + 0 3531 RP11-47I22.4_ENST00000556347.1_Intron|PRKCH_ENST00000555082.1_3'UTR|PRKCH_ENST00000556245.1_3'UTR NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta NA NA blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GTACCCGAATATACAGTTCAA 0.323 NA A||| 1090 0.217652 0.4418 0.2089 5008 , , NA 22316 0.1409 NA 0.0646 False NA ,,, NA NA NA 2504 0.1575 NA NA NA Melanoma(135;863 1779 8064 14443 26348) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M55284 CCDS9752.1 14q23.1 2009-07-10 ENSG00000027075 ENSG00000027075 5583 2.7.11.1 9403 protein-coding gene gene with protein product 605437 PRKCL NA 1986216, 1545821 Standard NM_006255 NM_006255 NA Approved PKC-L, PKCL uc001xfn.3 P24723 OTTHUMG00000152341 ENST00000332981.5:c.*1094A>G chr14.hg19:g.62017643A>G NA B4DJN5|Q16246|Q8NE03 hg19 CCDS9752.1 0.02 11.64648 AATxTAC COVERED NOVEL PRKCH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276974.2 3 17.448855 KEEP 0 0 0 58 1762 AA 1 1 0 + 8 60 314 0 0 19.395415 276 60 10051 420 ENST00000332981.5 0.028169 1 SNAPC1 6617 __UNKNOWN__ __UNKNOWN__ 14 62229434 62229434 __UNKNOWN__ Intron SNP G G C rs7151978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:62229434G>C ENST00000216294.4 + 1 232 RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383) nucleoplasm (GO:0005654) DNA binding (GO:0003677) endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) TTGCCTCCATGACTCCTGGAC 0.572 NA C||| 2006 0.400559 0.4705 0.4625 5008 , , NA 16142 0.3145 NA 0.2883 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NSCLC(27;223 907 37180 39193 46568) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z47542 CCDS9755.1 14q22 2008-08-11 2002-08-29 ENSG00000023608 ENSG00000023608 6617 11134 protein-coding gene gene with protein product 600591 small nuclear RNA activating complex, polypeptide 1, 43kD NA 9644240 Standard NM_003082 NM_003082 NA Approved SNAP43, PTFgamma uc001xft.3 Q16533 OTTHUMG00000140343 ENST00000216294.4:c.128+128G>C chr14.hg19:g.62229434G>C NA hg19 CCDS9755.1 0.02 1.971703 CATxACT COVERED NOVEL SNAPC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276976.2 0 2.639849 KEEP 0 1 32 20 591 GG 0.999869 0.999764 0 + 6 60 216 0 0 14.804027 87 60 3215 118 ENST00000216294.4 0.064516 0.999895 KCNH5 27133 __UNKNOWN__ __UNKNOWN__ 14 63453773 63453773 __UNKNOWN__ Intron SNP A A G rs1950975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:63453773A>G ENST00000322893.7 - 5 818 KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000420622.2_Intron NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 NA NA potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886) phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GGGAAGCAAAATTCATCTCAT 0.348 NA G||| 2149 0.429113 0.7534 0.2435 5008 , , NA 18450 0.5754 NA 0.2316 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 G ,, 2875,1531 467.0+/-354.7 958,959,286 109 93 98 ,, 2.6 0 14 dbSNP_92 98 1863,6735 720.9+/-406.3 208,1447,2644 no intron,intron,intron KCNH5 NM_139318.3,NM_172375.1,NM_172376.1 ,, 1166,2406,2930 GG,GA,AA 21.6678,34.7481,36.4349 ,, ,, 63453773 4738,8266 2203 4299 6502 SO:0001627 intron_variant U69185 CCDS9756.1, CCDS45122.1 14q23.1 2012-07-05 ENSG00000140015 ENSG00000140015 27133 Potassium channels, Voltage-gated ion channels / Potassium channels 6254 protein-coding gene gene with protein product 605716 NA 9738473, 16382104 Standard NM_139318 NM_139318 NA Approved Kv10.2, H-EAG2, eag2 uc001xfx.3 Q8NCM2 OTTHUMG00000029041 ENST00000322893.7:c.549+16T>C chr14.hg19:g.63453773A>G NA C9JP98 hg19 CCDS9756.1 0.02 17.60893 AAAxTTC COVERED NOVEL KCNH5-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411747.1 0 4.147642 KEEP 0 1 35 26 832 AA 0.999988 0.999988 0 - 20 60 792 0 0 54.563105 367 60 13151 506 ENST00000322893.7 0.05168 1 RHOJ 57381 __UNKNOWN__ __UNKNOWN__ 14 63750015 63750015 __UNKNOWN__ Intron SNP C C T rs2179967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:63750015C>T ENST00000316754.3 + 4 960 NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J NA NA actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) GTGTGCAACACTGGGTTTTGC 0.423 NA T||| 1098 0.219249 0.5537 0.0879 5008 , , NA 19989 0.1518 NA 0.0656 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027351 CCDS9757.1 14q23.1 2012-02-27 2012-02-27 2004-03-24 ENSG00000126785 ENSG00000126785 57381 688 protein-coding gene gene with protein product 607653 RAS-like, family 7, member B, ras homolog gene family, member J RASL7B, ARHJ NA 10967094 Standard NM_020663 NA Approved FLJ14445, TCL uc001xgb.2 Q9H4E5 OTTHUMG00000140342 ENST00000316754.3:c.498+81C>T chr14.hg19:g.63750015C>T NA Q96KC1 hg19 CCDS9757.1 0.02 12.167154 ACAxTGG COVERED NOVEL RHOJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276975.3 1 12.340715 KEEP 0 0 0 41 1496 CC 1 1 0 + 12 60 418 0 0 24.875151 337 60 12818 442 ENST00000316754.3 0.034384 1 RHOJ 57381 __UNKNOWN__ __UNKNOWN__ 14 63758432 63758432 __UNKNOWN__ 3'UTR SNP A A G rs17100993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:63758432A>G ENST00000316754.3 + 0 1797 NM_020663.4 NP_065714.1 Q9H4E5 RHOJ_HUMAN ras homolog family member J NA NA actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) TTTTGAACCTAATTGAAAGAA 0.363 NA G||| 1069 0.213458 0.5968 0.085 5008 , , NA 18861 0.1369 NA 0.0686 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK027351 CCDS9757.1 14q23.1 2012-02-27 2012-02-27 2004-03-24 ENSG00000126785 ENSG00000126785 57381 688 protein-coding gene gene with protein product 607653 RAS-like, family 7, member B, ras homolog gene family, member J RASL7B, ARHJ NA 10967094 Standard NM_020663 NA Approved FLJ14445, TCL uc001xgb.2 Q9H4E5 OTTHUMG00000140342 ENST00000316754.3:c.*690A>G chr14.hg19:g.63758432A>G NA Q96KC1 hg19 CCDS9757.1 0.02 11.175929 CCTxATT COVERED NOVEL RHOJ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276975.3 1 10.83129 KEEP 0 0 0 36 1093 AA 0.999999 0.999999 0 + 10 60 373 0 0 23.705355 248 60 8918 340 ENST00000316754.3 0.03876 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64428154 64428154 __UNKNOWN__ Intron SNP A A G rs1255884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64428154A>G ENST00000554584.1 + 8 838 SYNE2_ENST00000357395.3_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCTGTGAACCAAATGGCAGAG 0.438 NA A||| 2890 0.577077 0.3593 0.6758 5008 , , NA 20694 0.5764 NA 0.6412 False NA ,,, NA NA NA 2504 0.7362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.788-89A>G chr14.hg19:g.64428154A>G NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 1.257833 ACCxAAT COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 0 3.611023 KEEP 0 0 0 12 380 AA 0.993634 0.993553 0 + 9 60 278 0 0 19.179258 86 60 3042 112 ENST00000554584.1 0.094737 0.999919 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64554517 64554517 __UNKNOWN__ Silent SNP A A G rs17101637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64554517A>G ENST00000554584.1 + 58 11763 c.11712A>G c.(11710-11712)gtA>gtG p.V3904V SYNE2_ENST00000357395.3_Silent_p.V256V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Silent_p.V3871V|SYNE2_ENST00000344113.4_Silent_p.V3871V|SYNE2_ENST00000555002.1_Silent_p.V505V|SYNE2_ENST00000394768.2_Silent_p.V256V Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3871 NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTAATCAAGTAACAGCTTTAC 0.313 NA A||| 511 0.102037 0.1997 0.1009 5008 , , NA 19472 0.0556 NA 0.0517 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 A , 700,3704 276.0+/-272.9 55,590,1557 79 81 81 11613,11613 -6.3 0.1 14 dbSNP_123 81 619,7981 160.0+/-213.2 32,555,3713 no coding-synonymous,coding-synonymous SYNE2 NM_015180.4,NM_182914.2 , 87,1145,5270 GG,GA,AA 7.1977,15.8946,10.143 , 3871/6886,3871/6908 64554517 1319,11685 2202 4300 6502 SO:0001819 synonymous_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.11712A>G chr14.hg19:g.64554517A>G NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 5.027238 AGTxACA COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 1 12.610411 KEEP 0 0 0 42 1221 AA 1 0.999991 0 + 6 60 230 0 0 15.80151 102 60 3700 196 ENST00000554584.1 0.055556 0.999991 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64574140 64574140 __UNKNOWN__ Intron SNP C C A rs10135310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64574140C>A ENST00000554584.1 + 65 12588 SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATGAGCATGCGCAGAAAGAA 0.393 NA C||| 1036 0.206869 0.211 0.1585 5008 , , NA 20811 0.377 NA 0.0825 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.12538-69C>A chr14.hg19:g.64574140C>A NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 10.792031 ATGxGCA COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 1 14.145326 KEEP 0 0 0 47 1628 CC 1 1 0 + 12 60 441 0 0 28.560687 256 60 9298 373 ENST00000554584.1 0.044776 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64606654 64606654 __UNKNOWN__ Intron SNP G G C rs17825431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64606654G>C ENST00000554584.1 + 78 14645 SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTTTGCTCCTGTTAGTTATAA 0.378 NA G||| 522 0.104233 0.0151 0.1124 5008 , , NA 19145 0.25 NA 0.1133 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 G , 146,4260 102.1+/-140.7 4,138,2061 99 93 95 , -6.5 0 14 dbSNP_123 95 866,7734 197.2+/-241.9 40,786,3474 no intron,intron SYNE2 NM_015180.4,NM_182914.2 , 44,924,5535 CC,CG,GG 10.0698,3.3137,7.781 , , 64606654 1012,11994 2203 4300 6503 SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.14595-5G>C chr14.hg19:g.64606654G>C NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 6.05563 CCTxTTA COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 2 9.029632 KEEP 0 0 0 30 1079 GG 0.999997 0.999997 0 + 6 60 220 0 0 13.56387 166 60 6294 240 ENST00000554584.1 0.034884 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64644205 64644205 __UNKNOWN__ Intron SNP T T C rs2297301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64644205T>C ENST00000554584.1 + 94 17202 SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GATTAAGGTATTGAAATCCAA 0.393 NA T||| 193 0.0385383 0.0015 0.0288 5008 , , NA 18470 0.1091 NA 0.0229 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 T , 24,4382 29.9+/-59.1 0,24,2179 87 88 88 , -2.3 0 14 dbSNP_100 88 173,8427 78.9+/-141.6 3,167,4130 no intron,intron SYNE2 NM_015180.4,NM_182914.2 , 3,191,6309 CC,CT,TT 2.0116,0.5447,1.5147 , , 64644205 197,12809 2203 4300 6503 SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.17151+4T>C chr14.hg19:g.64644205T>C NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 8.68121 GTAxTGA COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 0 18.355615 KEEP 0 0 0 61 1976 TT 1 1 0 + 8 60 303 0 0 18.950049 228 60 8289 351 ENST00000554584.1 0.033898 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64655161 64655161 __UNKNOWN__ Intron SNP C C T rs1255986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64655161C>T ENST00000554584.1 + 95 17202 SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGGTTGAGTGCGGAGAGCTAC 0.383 NA T||| 3330 0.664936 0.9274 0.5692 5008 , , NA 20338 0.7044 NA 0.5408 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.17152-107C>T chr14.hg19:g.64655161C>T NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 1.839125 GTGxGGA COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 2 4.815322 KEEP 0 0 0 16 549 CC 0.997832 0.996036 0 + 7 60 222 0 0 15.50091 67 60 2435 97 ENST00000554584.1 0.094595 0.9982 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64657684 64657684 __UNKNOWN__ Silent SNP C C A rs1255988 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64657684C>A ENST00000554584.1 + 99 17742 c.17691C>A c.(17689-17691)acC>acA p.T5897T SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6034 NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TACAGCGAACCGTCACTTGGC 0.463 NA A||| 3326 0.664137 0.9251 0.5677 5008 , , NA 10384 0.7073 NA 0.5398 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.17691C>A chr14.hg19:g.64657684C>A NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 9.444586 AACxGTC COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 1 27.988136 KEEP 0 0 0 93 3149 CC 1 1 0 + 14 60 527 0 0 37.173144 192 60 6536 374 ENST00000554584.1 0.067961 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64680848 64680848 __UNKNOWN__ Intron SNP A A G rs1152591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64680848A>G ENST00000554584.1 + 107 18933 SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGACTTCTCATGCTCTTCTA 0.393 NA G||| 3412 0.68131 0.9319 0.5706 5008 , , NA 17879 0.7371 NA 0.5427 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.18883-64A>G chr14.hg19:g.64680848A>G NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 12.63276 CTCxTGC COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 0 20.763621 KEEP 0 0 0 69 2204 AA 1 1 0 + 24 60 771 1 0 49.213749 374 60 13672 523 ENST00000554584.1 0.060302 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64681193 64681193 __UNKNOWN__ Intron SNP C C T rs1152590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64681193C>T ENST00000554584.1 + 107 19210 SYNE2_ENST00000458046.2_Intron|SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTCAGGTAACAGCTGGGTTC 0.587 NA C||| 2921 0.583267 0.8185 0.4193 5008 , , NA 19193 0.7093 NA 0.3917 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 C ,, 3321,1085 693.8+/-405.7 1270,781,152 27 26 26 ,, -10 0 14 dbSNP_87 26 3292,5308 473.1+/-368.5 630,2032,1638 no intron,intron,intron SYNE2 NM_015180.4,NM_182913.2,NM_182914.2 ,, 1900,2813,1790 TT,TC,CC 38.2791,24.6255,49.1542 ,, ,, 64681193 6613,6393 2203 4300 6503 SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.19159+5C>T chr14.hg19:g.64681193C>T NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 1.742519 TAAxAGC COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 0 7.223661 KEEP 0 0 0 24 853 CC 0.999909 0.999532 0 + 4 60 145 0 0 9.405898 81 60 3090 115 ENST00000554584.1 0.047059 0.999622 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64688175 64688175 __UNKNOWN__ Intron SNP G G C rs1152588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64688175G>C ENST00000554584.1 + 111 19791 SYNE2_ENST00000458046.2_Intron|SYNE2_ENST00000357395.3_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Intron|SYNE2_ENST00000555022.1_Intron|SYNE2_ENST00000554805.1_Intron|SYNE2_ENST00000358025.3_Intron|SYNE2_ENST00000344113.4_Intron|SYNE2_ENST00000555002.1_Intron|SYNE2_ENST00000394768.2_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCGTATTCAGTGGGTAAGGC 0.517 NA C||| 3447 0.688299 0.9327 0.5807 5008 , , NA 20271 0.7163 NA 0.5885 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 GRCh37 CS054232 SYNE2 S rs1152588 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000554584.1:c.19741-119G>C chr14.hg19:g.64688175G>C NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 0.02 2.155965 TCAxTGG COVERED NOVEL SYNE2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000411905.1 0 8.417793 KEEP 0 0 0 28 968 GG 0.999997 0.99755 0 + 7 60 246 0 0 17.971015 65 60 2440 112 ENST00000554584.1 0.097222 0.997553 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64692377 64692377 __UNKNOWN__ 3'UTR SNP C C A rs1152583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64692377C>A ENST00000344113.4 + 0 21003 SYNE2_ENST00000458046.2_3'UTR|SYNE2_ENST00000357395.3_3'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_3'UTR|SYNE2_ENST00000555022.1_3'UTR|SYNE2_ENST00000554805.1_3'UTR|SYNE2_ENST00000358025.3_3'UTR|SYNE2_ENST00000555002.1_3'UTR|SYNE2_ENST00000394768.2_3'UTR NM_015180.4 NP_055995.4 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGGGCTTACCCAGCACGGGC 0.607 NA C||| 1629 0.32528 0.5787 0.1455 5008 , , NA 17263 0.4623 NA 0.1123 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000344113.4:c.*133C>A chr14.hg19:g.64692377C>A NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 CCDS41963.1 0.02 8.06856 TACxCAG COVERED NOVEL SYNE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276994.2 1 11.733902 KEEP 0 0 0 39 1289 CC 1 1 0 + 7 60 254 0 0 15.348065 208 60 7391 274 ENST00000344113.4 0.032558 1 SYNE2 23224 __UNKNOWN__ __UNKNOWN__ 14 64692465 64692465 __UNKNOWN__ 3'UTR SNP T T C rs1048315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64692465T>C ENST00000344113.4 + 0 21091 SYNE2_ENST00000458046.2_3'UTR|SYNE2_ENST00000357395.3_3'UTR|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_3'UTR|SYNE2_ENST00000555022.1_3'UTR|SYNE2_ENST00000554805.1_3'UTR|SYNE2_ENST00000358025.3_3'UTR|SYNE2_ENST00000555002.1_3'UTR|SYNE2_ENST00000394768.2_3'UTR NM_015180.4 NP_055995.4 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 NA NA centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504) aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018) actin binding (GO:0003779) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCCCCGGGTATTTTGGCAGAA 0.507 NA T||| 1675 0.334465 0.5915 0.1499 5008 , , NA 17804 0.4841 NA 0.1123 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023228 CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1 14q22.1-q22.3 2014-09-17 ENSG00000054654 ENSG00000054654 23224 17084 protein-coding gene gene with protein product nuclear envelope spectrin repeat-2, nucleus and actin connecting element 608442 NA 10231032, 10878022 Standard NM_182914 NM_182910 NA Approved SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2 uc001xgl.3 Q8WXH0 OTTHUMG00000140349 ENST00000344113.4:c.*221T>C chr14.hg19:g.64692465T>C NA Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1 hg19 CCDS41963.1 0.02 9.120285 GTAxTTT COVERED NOVEL SYNE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000276994.2 2 20.761058 KEEP 0 0 0 69 2190 TT 1 1 0 + 7 60 262 0 0 16.238984 202 60 6904 364 ENST00000344113.4 0.033493 1 ESR2 2100 __UNKNOWN__ __UNKNOWN__ 14 64698599 64698599 __UNKNOWN__ Intron SNP G G A rs1152602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64698599G>A ENST00000553796.1 - 7 1406 ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000357782.2_Intron NM_001271876.1 NP_001258805.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) NA NA brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068) extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CCTTCTTCATGTCCTATTTAT 0.303 NA G||| 511 0.102037 0.0113 0.0303 5008 , , NA 16990 0.3948 NA 0.0358 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99101 CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1 14q21-q22 2013-01-16 ENSG00000140009 ENSG00000140009 2100 Nuclear hormone receptors 3468 protein-coding gene gene with protein product 601663 NA 8769313 Standard NM_001214902 NA Approved NR3A2, Erb uc001xha.1 Q92731 OTTHUMG00000141306 ENST00000553796.1:c.1406+3088C>T chr14.hg19:g.64698599G>A NA A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9 hg19 0.02 6.607092 CATxTCC COVERED NOVEL ESR2-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412159.1 0 16.554272 KEEP 0 0 0 55 1979 GG 1 1 0 - 7 60 257 0 0 16.445784 159 60 6115 278 ENST00000553796.1 0.042169 1 ESR2 2100 __UNKNOWN__ __UNKNOWN__ 14 64698891 64698891 __UNKNOWN__ Intron SNP C C T rs1256066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64698891C>T ENST00000553796.1 - 7 1406 ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000357782.2_Intron NM_001271876.1 NP_001258805.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) NA NA brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068) extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CTGCACACATCCACAGCCCAA 0.507 NA C||| 805 0.160743 0.1233 0.1153 5008 , , NA 19725 0.4772 NA 0.0368 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99101 CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1 14q21-q22 2013-01-16 ENSG00000140009 ENSG00000140009 2100 Nuclear hormone receptors 3468 protein-coding gene gene with protein product 601663 NA 8769313 Standard NM_001214902 NA Approved NR3A2, Erb uc001xha.1 Q92731 OTTHUMG00000141306 ENST00000553796.1:c.1406+2796G>A chr14.hg19:g.64698891C>T NA A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9 hg19 0.02 6.251846 CATxCAC COVERED NOVEL ESR2-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412159.1 2 13.843965 KEEP 0 0 0 46 1590 CC 1 1 0 - 6 60 220 0 0 13.738761 155 60 5805 254 ENST00000553796.1 0.037267 1 ESR2 2100 __UNKNOWN__ __UNKNOWN__ 14 64700045 64700045 __UNKNOWN__ Intron SNP T T C rs944050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64700045T>C ENST00000553796.1 - 7 1406 ESR2_ENST00000341099.4_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000357782.2_Intron NM_001271876.1 NP_001258805.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) NA NA brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068) extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CTTGTTACTATGGGGACAAAA 0.557 NA T||| 809 0.161542 0.1248 0.1167 5008 , , NA 20647 0.4782 NA 0.0368 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 GRCh37 CS067819 ESR2 S rs944050 T ,,, 473,3933 224.3+/-240.5 20,433,1750 130 109 116 ,,, 0 0.5 14 dbSNP_86 116 311,8289 111.4+/-171.7 7,297,3996 no intron,intron,intron,intron ESR2 NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001437.2 ,,, 27,730,5746 CC,CT,TT 3.6163,10.7354,6.028 ,,, ,,, 64700045 784,12222 2203 4300 6503 SO:0001627 intron_variant X99101 CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1 14q21-q22 2013-01-16 ENSG00000140009 ENSG00000140009 2100 Nuclear hormone receptors 3468 protein-coding gene gene with protein product 601663 NA 8769313 Standard NM_001214902 NA Approved NR3A2, Erb uc001xha.1 Q92731 OTTHUMG00000141306 ENST00000553796.1:c.1406+1642A>G chr14.hg19:g.64700045T>C NA A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9 hg19 0.02 18.508134 CTAxGGG COVERED NOVEL ESR2-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412159.1 2 38.213124 KEEP 0 0 0 127 3938 TT 1 1 0 - 15 60 474 0 0 25.682528 508 60 18372 812 ENST00000553796.1 0.028681 1 ESR2 2100 __UNKNOWN__ __UNKNOWN__ 14 64700292 64700292 __UNKNOWN__ Intron SNP C C T rs944047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64700292C>T ENST00000553796.1 - 7 1406 ESR2_ENST00000341099.4_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000357782.2_Intron NM_001271876.1 NP_001258805.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) NA NA brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068) extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GAcaatcaatcctcattgttt 0.488 NA T||| 3427 0.684305 0.9334 0.5821 5008 , , NA 21282 0.7024 NA 0.5885 False NA ,,, NA NA NA 2504 0.5 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99101 CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1 14q21-q22 2013-01-16 ENSG00000140009 ENSG00000140009 2100 Nuclear hormone receptors 3468 protein-coding gene gene with protein product 601663 NA 8769313 Standard NM_001214902 NA Approved NR3A2, Erb uc001xha.1 Q92731 OTTHUMG00000141306 ENST00000553796.1:c.1406+1395G>A chr14.hg19:g.64700292C>T NA A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9 hg19 0.02 8.471276 AATxCTC COVERED NOVEL ESR2-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412159.1 1 6.983633 KEEP 0 3 102 59 2042 CC 1 1 0 - 9 60 324 0 0 20.701204 194 60 7355 343 ENST00000553796.1 0.044335 1 ESR2 2100 __UNKNOWN__ __UNKNOWN__ 14 64700739 64700739 __UNKNOWN__ Intron SNP A A G rs1256064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64700739A>G ENST00000553796.1 - 7 1406 ESR2_ENST00000341099.4_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000357782.2_Intron NM_001271876.1 NP_001258805.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) NA NA brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068) extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ctgggactgtacataaagggc 0.383 NA G||| 1793 0.358027 0.5855 0.2219 5008 , , NA 22867 0.5605 NA 0.1173 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99101 CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1 14q21-q22 2013-01-16 ENSG00000140009 ENSG00000140009 2100 Nuclear hormone receptors 3468 protein-coding gene gene with protein product 601663 NA 8769313 Standard NM_001214902 NA Approved NR3A2, Erb uc001xha.1 Q92731 OTTHUMG00000141306 ENST00000553796.1:c.1406+948T>C chr14.hg19:g.64700739A>G NA A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9 hg19 0.02 4.504897 TGTxCAT COVERED NOVEL ESR2-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412159.1 0 9.625169 KEEP 0 0 0 32 949 AA 0.999997 0.999997 0 - 5 60 183 0 0 11.626561 117 60 4164 182 ENST00000553796.1 0.040984 0.999999 ESR2 2100 __UNKNOWN__ __UNKNOWN__ 14 64701456 64701456 __UNKNOWN__ Intron SNP C C G rs944460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64701456C>G ENST00000553796.1 - 7 1406 ESR2_ENST00000341099.4_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Intron|ESR2_ENST00000357782.2_Intron NM_001271876.1 NP_001258805.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) NA NA brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068) extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) TTGAAAAACCCATGAGCCACC 0.517 NA G||| 566 0.113019 0.0552 0.0331 5008 , , NA 20290 0.3899 NA 0.0358 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X99101 CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1 14q21-q22 2013-01-16 ENSG00000140009 ENSG00000140009 2100 Nuclear hormone receptors 3468 protein-coding gene gene with protein product 601663 NA 8769313 Standard NM_001214902 NA Approved NR3A2, Erb uc001xha.1 Q92731 OTTHUMG00000141306 ENST00000553796.1:c.1406+231G>C chr14.hg19:g.64701456C>G NA A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9 hg19 0.02 6.41151 ACCxATG COVERED NOVEL ESR2-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412159.1 2 21.9708 KEEP 0 0 0 73 2540 CC 1 1 0 - 12 60 408 0 0 27.481583 165 60 6099 310 ENST00000553796.1 0.067797 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 64814311 64814311 __UNKNOWN__ IGR SNP C C T rs1256112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:64814311C>T NA NA RP11-544I20.2 (8994 upstream) : CTD-2555O16.1 (11174 downstream) NA NA NA ACTGAGCTGTCTCTGAAGTTT 0.333 NA T||| 3578 0.714457 0.9781 0.5922 5008 , , NA 15784 0.7341 NA 0.5885 False NA ,,, NA NA NA 2504 0.5542 NA NA NA NA 0 GRCh37 CR054249 ESR2 R rs1256112 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.64814311C>T NA hg19 0.02 6.530387 TGTxTCT COVERED NOVEL 0 0 11.136133 KEEP 0 0 0 37 1328 CC 1 1 0 8 60 291 0 0 19.310181 144 60 5562 245 0.052632 1 PLEKHG3 26030 __UNKNOWN__ __UNKNOWN__ 14 65212250 65212250 __UNKNOWN__ 3'UTR SNP C C A rs184960739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65212250C>A ENST00000247226.7 + 0 5629 NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 NA NA Rho guanyl-nucleotide exchange factor activity (GO:0005089) endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) gcaatcttggctcactgcaac 0.557 NA c||| 9 0.00179712 0.0 0.0 5008 , , NA 19575 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011171 CCDS32098.1 14q23.3 2013-01-10 2004-12-01 2004-12-01 ENSG00000126822 ENSG00000126822 26030 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 20364 protein-coding gene gene with protein product KIAA0599 KIAA0599 NA Standard NM_015549 XM_005267511 NA Approved ARHGEF43 uc001xhp.2 A1L390 OTTHUMG00000029671 ENST00000247226.7:c.*1829C>A chr14.hg19:g.65212250C>A NA A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82 hg19 CCDS32098.1 0.02 1.911272 TGGxTCA COVERED NOVEL PLEKHG3-004 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000073981.2 1 11.738004 KEEP 0 0 0 39 1370 CC 1 0.999962 0 + 4 60 142 0 0 8.82325 96 60 3550 156 ENST00000247226.7 0.04 0.999962 SPTB 6710 __UNKNOWN__ __UNKNOWN__ 14 65220582 65220582 __UNKNOWN__ Intron SNP T T C rs2295523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65220582T>C ENST00000556626.1 - 33 6488 SPTB_ENST00000342835.4_Intron|SPTB_ENST00000389722.3_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic NA NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCAGCAAAATTGGGAGGTCA 0.587 NA t||| 483 0.0964457 0.205 0.0187 5008 , , NA 16127 0.1825 NA 0.002 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710 Pleckstrin homology (PH) domain containing 11274 protein-coding gene gene with protein product spherocytosis, clinical type I 182870 NA 2209094 Standard NM_001024858 NA Approved uc001xhr.3 P11277 ENST00000556626.1:c.6346-71A>G chr14.hg19:g.65220582T>C NA Q15510|Q15519 hg19 CCDS32099.1 0.02 2.106703 AAAxTGG COVERED NOVEL SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414076.1 0 7.521895 KEEP 0 0 0 25 801 TT 0.999931 0.999735 0 - 5 60 180 0 0 12.029261 84 60 2969 133 ENST00000556626.1 0.05618 0.999804 SPTB 6710 __UNKNOWN__ __UNKNOWN__ 14 65245863 65245863 __UNKNOWN__ Intron SNP C C G rs1741489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65245863C>G ENST00000556626.1 - 22 4706 SPTB_ENST00000389721.5_Intron|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000389720.3_Intron|SPTB_ENST00000542895.1_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic NA NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GGTGAGGTGACGCAGGACTCA 0.597 NA G||| 2056 0.410543 0.6959 0.1671 5008 , , NA 11558 0.3532 NA 0.2445 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 G , 2660,1746 507.4+/-366.7 811,1038,354 74 80 78 , 0.7 0 14 dbSNP_89 78 2054,6546 712.8+/-405.9 247,1560,2493 no intron,intron SPTB NM_000347.5,NM_001024858.2 , 1058,2598,2847 GG,GC,CC 23.8837,39.6278,36.2448 , , 65245863 4714,8292 2203 4300 6503 SO:0001627 intron_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710 Pleckstrin homology (PH) domain containing 11274 protein-coding gene gene with protein product spherocytosis, clinical type I 182870 NA 2209094 Standard NM_001024858 NA Approved uc001xhr.3 P11277 ENST00000556626.1:c.4563+11G>C chr14.hg19:g.65245863C>G NA Q15510|Q15519 hg19 CCDS32099.1 0.02 2.250478 TGAxGCA COVERED NOVEL SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414076.1 1 4.815245 KEEP 0 0 0 16 538 CC 0.997832 0.997392 0 - 4 60 154 0 0 10.326477 80 60 2752 115 ENST00000556626.1 0.047619 0.999559 SPTB 6710 __UNKNOWN__ __UNKNOWN__ 14 65246623 65246623 __UNKNOWN__ Silent SNP T T C rs1626923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65246623T>C ENST00000556626.1 - 21 4435 c.4293A>G c.(4291-4293)cgA>cgG p.R1431R SPTB_ENST00000389721.5_Silent_p.R1431R|SPTB_ENST00000389722.3_Silent_p.R1431R|SPTB_ENST00000389720.3_Silent_p.R1431R|SPTB_ENST00000542895.1_Silent_p.R1431R P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1431 NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCTCCTCTTTTCGCACATTCA 0.582 NA C||| 2229 0.445088 0.7057 0.2176 5008 , , NA 21086 0.377 NA 0.326 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 C , 2747,1659 505.9+/-366.3 858,1031,314 112 109 110 4293,4293 1.2 1 14 dbSNP_89 110 2762,5838 677.8+/-403.4 453,1856,1991 no coding-synonymous,coding-synonymous SPTB NM_000347.5,NM_001024858.2 , 1311,2887,2305 CC,CT,TT 32.1163,37.6532,42.3574 , 1431/2138,1431/2329 65246623 5509,7497 2203 4300 6503 SO:0001819 synonymous_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710 Pleckstrin homology (PH) domain containing 11274 protein-coding gene gene with protein product spherocytosis, clinical type I 182870 NA 2209094 Standard NM_001024858 NA Approved uc001xhr.3 P11277 ENST00000556626.1:c.4293A>G chr14.hg19:g.65246623T>C NA Q15510|Q15519 hg19 CCDS32099.1 0.02 12.171947 TTTxCGC COVERED NOVEL SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414076.1 0 8.597389 KEEP 0 3 107 66 2078 TT 1 1 0 - 16 60 606 0 0 41.580465 265 60 9460 452 ENST00000556626.1 0.05694 1 SPTB 6710 __UNKNOWN__ __UNKNOWN__ 14 65253232 65253232 __UNKNOWN__ Missense_Mutation SNP T T C rs371296217|rs77806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65253232T>C ENST00000556626.1 - 16 3593 c.3451A>G c.(3451-3453)Aat>Gat p.N1151D SPTB_ENST00000389721.5_Missense_Mutation_p.N1151D|SPTB_ENST00000389722.3_Missense_Mutation_p.N1151D|SPTB_ENST00000389720.3_Missense_Mutation_p.N1151D|SPTB_ENST00000542895.1_Missense_Mutation_p.N1151D P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1151 NA N -> D (in dbSNP:rs77806). {ECO:0000269|PubMed:1976574, ECO:0000269|PubMed:2195026, ECO:0000269|PubMed:2243099}. actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCCAGGGCATTCCAGCCAGTA 0.607 NA C||| 2351 0.469449 0.702 0.2896 5008 , , NA 16493 0.4018 NA 0.3668 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 C ASP/ASN,ASP/ASN 2669,1737 496.2+/-363.5 815,1039,349 50 51 51 3451,3451 4.9 1 14 dbSNP_79 51 2591,6009 657.0+/-401.4 392,1807,2101 yes missense,missense SPTB NM_000347.5,NM_001024858.2 23,23 1207,2846,2450 CC,CT,TT 30.1279,39.4235,40.4429 benign,benign 1151/2138,1151/2329 65253232 5260,7746 2203 4300 6503 SO:0001583 missense CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710 Pleckstrin homology (PH) domain containing 11274 protein-coding gene gene with protein product spherocytosis, clinical type I 182870 NA 2209094 Standard NM_001024858 NA Approved uc001xhr.3 P11277 ENST00000556626.1:c.3451A>G chr14.hg19:g.65253232T>C ENSP00000451752:p.Asn1151Asp NA Q15510|Q15519 hg19 CCDS32099.1 0.02 4.305396 CATxCCA COVERED 853 0.39056776556776557 322 0.6544715447154471 91 0.2513812154696133 205 0.3583916083916084 235 0.3100263852242744 C 2.221 -0.378429 0.05000 0.605765 0.301279 ENSG00000070182 ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720 T;T;T;T;T 0.32753 1.44;1.44;1.44;1.44;1.44 4.89 4.89 0.63831 . 0.370526 0.27280 N 0.020095 T 0.00012 0.0000 N 0.03948 -0.315 0.49915 P 1.7000000000000348E-4 B;B 0.02656 0.0;0.0 B;B 0.08055 0.001;0.003 T 0.36383 -0.9750 9 0.19147 T 0.46 . 7.3172 0.26507 0.0:0.7367:0.0:0.2633 rs77806;rs737257;rs848143;rs1695757;rs17767478;rs52836625;rs57832249;rs77806 1151;1155 P11277;Q59FP5 SPTB1_HUMAN;. D 1155;1151;1151;1151;1151;1151 ENSP00000374372:N1151D;ENSP00000451752:N1151D;ENSP00000374371:N1151D;ENSP00000443882:N1151D;ENSP00000374370:N1151D ENSP00000374370:N1151D N - 1 0 SPTB 64322985 0.031000 0.19500 0.997000 0.53966 0.247000 0.25773 0.240000 0.18042 1.210000 0.43336 -0.231000 0.12243 AAT NOVEL SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414076.1 1 6.016247 KEEP 0 0 0 20 593 TT 0.999863 0.999862 0 - 11 60 240 0 1 13.87636 112 60 3490 174 ENST00000556626.1 0.089431 0.999999 SPTB 6710 __UNKNOWN__ __UNKNOWN__ 14 65268718 65268718 __UNKNOWN__ Intron SNP A A G rs45617438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65268718A>G ENST00000556626.1 - 6 709 SPTB_ENST00000389721.5_Intron|SPTB_ENST00000389722.3_Intron|SPTB_ENST00000389720.3_Intron|SPTB_ENST00000542895.1_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic NA NA actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779) actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCCCCCATCAGATGTGAACA 0.522 NA OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 484 0.0966454 0.1044 0.0548 5008 , , NA 19783 0.2034 NA 0.0368 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32099.1, CCDS32100.1 14q24.1-q24.2 2013-01-10 2008-07-29 ENSG00000070182 6710 Pleckstrin homology (PH) domain containing 11274 protein-coding gene gene with protein product spherocytosis, clinical type I 182870 NA 2209094 Standard NM_001024858 NA Approved uc001xhr.3 P11277 ENST00000556626.1:c.567-166T>C chr14.hg19:g.65268718A>G 1082 Q15510|Q15519 hg19 CCDS32099.1 0.02 2.359086 ATCxGAT COVERED NOVEL SPTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414076.1 1 2.407475 KEEP 0 0 0 8 255 AA 0.99257 0.992062 0 - 5 60 197 0 0 13.881875 78 60 2918 95 ENST00000556626.1 0.060241 0.999487 FNTB 2342 __UNKNOWN__ __UNKNOWN__ 14 65510966 65510966 __UNKNOWN__ Intron SNP T T C rs2296321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:65510966T>C ENST00000246166.2 + 9 1056 FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron NM_002028.3 NP_002019.1 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta NA NA negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060) cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965) farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) TCCTGGAGATTCTGTCGGGCT 0.512 NA T||| 149 0.0297524 0.0159 0.0101 5008 , , NA 21129 0.1151 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9769.1 14q23.3 2011-09-28 ENSG00000257365 ENSG00000257365 2342 3785 protein-coding gene gene with protein product 134636 NA 8276393 Standard NM_002028 NM_002028 NA Approved FPTB P49356 OTTHUMG00000142811 ENST00000246166.2:c.823-63T>C chr14.hg19:g.65510966T>C NA B2RDX6|B4E1A0 hg19 CCDS9769.1 0.02 7.5938 GATxCTG COVERED NOVEL FNTB-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000286392.1 0 10.828625 KEEP 0 0 0 36 1050 TT 0.999999 0.999999 0 + 8 60 315 0 0 21.616688 148 60 5233 223 ENST00000246166.2 0.051282 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 66479652 66479652 __UNKNOWN__ IGR SNP G G T rs10130914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:66479652G>T NA NA AL391261.1 (1201 upstream) : RP11-783L4.1 (98646 downstream) NA NA NA TCTGGGCGTCGGCGTCGGTAA 0.547 NA T||| 2436 0.486422 0.7746 0.4179 5008 , , NA 17051 0.3611 NA 0.3469 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.66479652G>T NA hg19 0.02 5.795065 GTCxGCG COVERED NOVEL 0 0 4.51472 KEEP 0 0 0 15 527 GG 0.99649 0.99649 0 8 47 270 0 0 16.635204 171 60 6149 207 0.044693 1 GPHN 10243 __UNKNOWN__ __UNKNOWN__ 14 66974474 66974474 __UNKNOWN__ 5'UTR SNP T T C rs928553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:66974474T>C ENST00000478722.1 + 0 350 RP11-72M17.1_ENST00000556874.1_lincRNA|GPHN_ENST00000315266.5_5'UTR NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin NA NA establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) CGGCCGGCCATTCCCGAGGGT 0.672 NA T MLL AL C||| 2257 0.450679 0.739 0.415 5008 , , NA 14267 0.4732 NA 0.1521 False NA ,,, NA NA NA 2504 0.3701 NA NA NA Dom yes 14 14q24 10243 gephyrin (GPH) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB037806 CCDS9777.1, CCDS32103.1 14q23.3 2008-04-22 ENSG00000171723 ENSG00000171723 10243 15465 protein-coding gene gene with protein product 603930 NA 1319186, 10325225, 18403029 Standard NM_020806 XM_005267250 NA Approved KIAA1385 uc001xix.3 Q9NQX3 OTTHUMG00000029785 ENST00000478722.1:c.-772T>C chr14.hg19:g.66974474T>C NA Q9H4E9|Q9P2G2 hg19 CCDS9777.1 0.02 12.148049 CCAxTCC COVERED NOVEL GPHN-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286408.1 2 26.781071 KEEP 0 0 0 89 2806 TT 1 1 0 + 21 60 766 0 0 54.96036 239 60 8381 423 ENST00000478722.1 0.080769 1 GPHN 10243 __UNKNOWN__ __UNKNOWN__ 14 67228671 67228671 __UNKNOWN__ Intron SNP C C T rs2319498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67228671C>T ENST00000478722.1 + 3 1264 GPHN_ENST00000459628.1_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000315266.5_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin NA NA establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTTTAACTTGCGATTCCTGGT 0.438 NA T MLL AL T||| 2242 0.447684 0.7254 0.415 5008 , , NA 15970 0.4742 NA 0.1571 False NA ,,, NA NA NA 2504 0.3671 NA NA NA Dom yes 14 14q24 10243 gephyrin (GPH) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037806 CCDS9777.1, CCDS32103.1 14q23.3 2008-04-22 ENSG00000171723 ENSG00000171723 10243 15465 protein-coding gene gene with protein product 603930 NA 1319186, 10325225, 18403029 Standard NM_020806 XM_005267250 NA Approved KIAA1385 uc001xix.3 Q9NQX3 OTTHUMG00000029785 ENST00000478722.1:c.144-14511C>T chr14.hg19:g.67228671C>T NA Q9H4E9|Q9P2G2 hg19 CCDS9777.1 0.02 -0.35089 TTGxGAT COVERED NOVEL GPHN-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286408.1 0 2.407857 KEEP 0 0 0 8 285 CC 0.99257 0.871187 0 + 4 60 144 0 0 10.662449 36 60 1303 61 ENST00000478722.1 0.1 0.877708 GPHN 10243 __UNKNOWN__ __UNKNOWN__ 14 67291154 67291154 __UNKNOWN__ Intron SNP A A G rs3784074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67291154A>G ENST00000478722.1 + 4 1322 GPHN_ENST00000544752.2_Intron|GPHN_ENST00000459628.1_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000315266.5_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin NA NA establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AAGCAGGCAAATTTTTCTGCA 0.358 NA T MLL AL G||| 2256 0.450479 0.7905 0.379 5008 , , NA 15061 0.4752 NA 0.1292 False NA ,,, NA NA NA 2504 0.3466 NA NA NA Dom yes 14 14q24 10243 gephyrin (GPH) L 0 G , 3022,1384 444.1+/-347.2 1042,938,223 53 48 50 , -1 0 14 dbSNP_107 50 1067,7531 762.4+/-407.6 67,933,3299 no intron,intron GPHN NM_001024218.1,NM_020806.4 , 1109,1871,3522 GG,GA,AA 12.4099,31.4117,31.4442 , , 67291154 4089,8915 2203 4299 6502 SO:0001627 intron_variant AB037806 CCDS9777.1, CCDS32103.1 14q23.3 2008-04-22 ENSG00000171723 ENSG00000171723 10243 15465 protein-coding gene gene with protein product 603930 NA 1319186, 10325225, 18403029 Standard NM_020806 XM_005267250 NA Approved KIAA1385 uc001xix.3 Q9NQX3 OTTHUMG00000029785 ENST00000478722.1:c.202-38A>G chr14.hg19:g.67291154A>G NA Q9H4E9|Q9P2G2 hg19 CCDS9777.1 0.02 14.71509 CAAxTTT COVERED NOVEL GPHN-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286408.1 1 12.036742 KEEP 0 0 0 40 1279 AA 1 1 0 + 18 60 695 0 0 48.288552 291 60 10572 422 ENST00000478722.1 0.058252 1 GPHN 10243 __UNKNOWN__ __UNKNOWN__ 14 67291186 67291186 __UNKNOWN__ Intron SNP T T C rs3784075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67291186T>C ENST00000478722.1 + 4 1322 GPHN_ENST00000544752.2_Intron|GPHN_ENST00000459628.1_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000315266.5_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin NA NA establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TATTGTTTTCTTTCAGGAAAC 0.393 NA T MLL AL T||| 1909 0.38119 0.646 0.3084 5008 , , NA 14659 0.4692 NA 0.0577 False NA ,,, NA NA NA 2504 0.317 NA NA NA Dom yes 14 14q24 10243 gephyrin (GPH) L 0 T , 2471,1935 612.6+/-392.0 719,1033,451 73 68 70 , 4.5 1 14 dbSNP_107 70 370,8230 116.5+/-176.2 6,358,3936 no intron,intron GPHN NM_001024218.1,NM_020806.4 , 725,1391,4387 CC,CT,TT 4.3023,43.9174,21.8438 , , 67291186 2841,10165 2203 4300 6503 SO:0001627 intron_variant AB037806 CCDS9777.1, CCDS32103.1 14q23.3 2008-04-22 ENSG00000171723 ENSG00000171723 10243 15465 protein-coding gene gene with protein product 603930 NA 1319186, 10325225, 18403029 Standard NM_020806 XM_005267250 NA Approved KIAA1385 uc001xix.3 Q9NQX3 OTTHUMG00000029785 ENST00000478722.1:c.202-6T>C chr14.hg19:g.67291186T>C NA Q9H4E9|Q9P2G2 hg19 CCDS9777.1 0.02 14.182779 TTCxTTC COVERED NOVEL GPHN-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286408.1 2 13.542027 KEEP 0 0 0 45 1461 TT 1 1 0 + 21 60 782 0 0 54.455931 303 60 11288 452 ENST00000478722.1 0.064815 1 GPHN 10243 __UNKNOWN__ __UNKNOWN__ 14 67463012 67463012 __UNKNOWN__ Intron SNP C C T rs7142068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67463012C>T ENST00000478722.1 + 10 2084 GPHN_ENST00000544752.2_Intron|GPHN_ENST00000459628.1_Intron|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000543237.1_Intron|GPHN_ENST00000315266.5_Intron NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin NA NA establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740) large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ATTTTCCTTTCGCCTTAATTT 0.378 NA T MLL AL T||| 1952 0.389776 0.6543 0.3343 5008 , , NA 19177 0.4673 NA 0.0746 False NA ,,, NA NA NA 2504 0.316 NA NA NA Dom yes 14 14q24 10243 gephyrin (GPH) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037806 CCDS9777.1, CCDS32103.1 14q23.3 2008-04-22 ENSG00000171723 ENSG00000171723 10243 15465 protein-coding gene gene with protein product 603930 NA 1319186, 10325225, 18403029 Standard NM_020806 XM_005267250 NA Approved KIAA1385 uc001xix.3 Q9NQX3 OTTHUMG00000029785 ENST00000478722.1:c.964-27338C>T chr14.hg19:g.67463012C>T NA Q9H4E9|Q9P2G2 hg19 CCDS9777.1 0.02 13.545571 TTTxGCC COVERED NOVEL GPHN-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286408.1 1 10.231319 KEEP 0 0 0 34 1110 CC 0.999998 0.999998 0 + 24 60 887 0 0 63.276248 292 60 9905 401 ENST00000478722.1 0.075949 1 FAM71D 161142 __UNKNOWN__ __UNKNOWN__ 14 67667019 67667019 __UNKNOWN__ Intron SNP C C T rs10873200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67667019C>T ENST00000556046.1 + 4 383 Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CCTCGAGGCCCGCTTTGGAGC 0.547 NA C||| 1606 0.320687 0.4803 0.2493 5008 , , NA 17329 0.4256 NA 0.0716 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9778.1 14q23.3 2007-11-20 2007-11-20 2007-11-20 ENSG00000172717 161142 20101 protein-coding gene gene with protein product chromosome 14 open reading frame 54 C14orf54 NA Standard NM_173526 NM_173526 NA Approved uc001xja.2 Q8N9W8 ENST00000556046.1:c.160-1129C>T chr14.hg19:g.67667019C>T NA Q86VN4 hg19 0.02 7.072316 GCCxGCT COVERED NOVEL FAM71D-009 KNOWN not_organism_supported|basic|appris_candidate nonsense_mediated_decay NA protein_coding OTTHUMT00000412390.1 0 6.922309 KEEP 0 0 0 23 801 CC 0.999892 0.999892 0 + 10 60 385 0 0 26.761161 160 60 5595 229 ENST00000556046.1 0.058824 1 FAM71D 161142 __UNKNOWN__ __UNKNOWN__ 14 67671701 67671701 __UNKNOWN__ 3'UTR SNP C C T rs11158655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67671701C>T ENST00000556046.1 + 0 1348 Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) tcatagaagtcagagaagcca 0.458 NA C||| 1606 0.320687 0.4803 0.2493 5008 , , NA 19629 0.4256 NA 0.0716 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 C 1585,2811 285,1015,898 17 18 18 807 1.2 0.3 14 dbSNP_120 18 594,7978 20,554,3712 no coding-synonymous FAM71D NM_173526.3 305,1569,4610 TT,TC,CC 6.9295,36.0555,16.8029 269/423 67671701 2179,10789 2198 4286 6484 SO:0001624 3_prime_UTR_variant CCDS9778.1 14q23.3 2007-11-20 2007-11-20 2007-11-20 ENSG00000172717 161142 20101 protein-coding gene gene with protein product chromosome 14 open reading frame 54 C14orf54 NA Standard NM_173526 NM_173526 NA Approved uc001xja.2 Q8N9W8 ENST00000556046.1:c.*863C>T chr14.hg19:g.67671701C>T NA Q86VN4 hg19 0.02 10.940825 AGTxAGA COVERED 594 0.27197802197802196 222 0.45121951219512196 83 0.2292817679558011 245 0.42832167832167833 44 0.05804749340369393 C 4.526 0.097634 0.08681 0.360555 0.069295 ENSG00000172717 ENST00000556117 . . . 2.12 1.21 0.21127 . . . . . . . . . . . . . . . . . . . . . . . . . . . -10.5994 4.5937 0.12319 0.0:0.8053:0.0:0.1947 rs11158655;rs58272447;rs11158655 . . . X 13 . . Q + 1 0 FAM71D 66741454 0.537000 0.26386 0.255000 0.24374 0.735000 0.41995 0.860000 0.27871 0.422000 0.26005 0.313000 0.20887 CAG NOVEL FAM71D-009 KNOWN not_organism_supported|basic|appris_candidate nonsense_mediated_decay NA protein_coding OTTHUMT00000412390.1 1 6.153824 KEEP 0 1 27 30 1054 CC 0.999997 0.999997 0 + 14 60 517 0 0 34.661675 248 60 9337 350 ENST00000556046.1 0.053435 1 FAM71D 161142 __UNKNOWN__ __UNKNOWN__ 14 67675224 67675224 __UNKNOWN__ Intron SNP A A G rs10150082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67675224A>G ENST00000556046.1 + 7 1701 Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) TAATAAAGAAATATGTGCTTT 0.398 NA G||| 1799 0.359225 0.5287 0.2839 5008 , , NA 19076 0.4534 NA 0.1143 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9778.1 14q23.3 2007-11-20 2007-11-20 2007-11-20 ENSG00000172717 161142 20101 protein-coding gene gene with protein product chromosome 14 open reading frame 54 C14orf54 NA Standard NM_173526 NM_173526 NA Approved uc001xja.2 Q8N9W8 ENST00000556046.1:c.258+58A>G chr14.hg19:g.67675224A>G NA Q86VN4 hg19 0.02 6.454672 GAAxTAT COVERED NOVEL FAM71D-009 KNOWN not_organism_supported|basic|appris_candidate nonsense_mediated_decay NA protein_coding OTTHUMT00000412390.1 1 3.610522 KEEP 0 0 0 12 364 AA 0.993634 0.993634 0 + 9 60 332 0 0 22.162988 163 60 5914 192 ENST00000556046.1 0.052326 1 FAM71D 161142 __UNKNOWN__ __UNKNOWN__ 14 67688610 67688610 __UNKNOWN__ 3'UTR SNP A A G rs17248456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67688610A>G ENST00000556046.1 + 0 1816 Q8N9W8 FA71D_HUMAN family with sequence similarity 71, member D NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) AGTGTGGCTAAGAGCAAAGGA 0.388 NA A||| 1547 0.308906 0.4501 0.2248 5008 , , NA 18845 0.4494 NA 0.0427 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 A 489,895 88,313,291 77 65 68 0.9 0 14 dbSNP_123 68 114,3068 3,108,1480 no intron FAM71D NM_173526.3 91,421,1771 GG,GA,AA 3.5827,35.3324,13.2063 67688610 603,3963 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS9778.1 14q23.3 2007-11-20 2007-11-20 2007-11-20 ENSG00000172717 161142 20101 protein-coding gene gene with protein product chromosome 14 open reading frame 54 C14orf54 NA Standard NM_173526 NM_173526 NA Approved uc001xja.2 Q8N9W8 ENST00000556046.1:c.*1331A>G chr14.hg19:g.67688610A>G NA Q86VN4 hg19 0.02 15.345967 CTAxGAG COVERED NOVEL FAM71D-009 KNOWN not_organism_supported|basic|appris_candidate nonsense_mediated_decay NA protein_coding OTTHUMT00000412390.1 1 10.230385 KEEP 0 0 0 34 1079 AA 0.999998 0.999998 0 + 19 60 695 0 0 45.727106 365 60 13620 487 ENST00000556046.1 0.049479 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 67691449 67691449 __UNKNOWN__ IGR SNP A A G rs12590956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67691449A>G NA NA FAM71D (792 upstream) : FAM71D (2738 downstream) NA NA NA AAGAAGAGAAAGAAAAATCAC 0.328 NA G||| 1733 0.346046 0.5386 0.2536 5008 , , NA 15695 0.4583 NA 0.0716 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.67691449A>G NA hg19 0.02 19.159442 GAAxGAA COVERED NOVEL 0 6 12.940625 KEEP 0 0 0 43 1416 AA 1 1 0 20 60 766 0 0 51.338217 395 60 14531 555 0.048193 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 67691785 67691785 __UNKNOWN__ IGR SNP C C T rs45612334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67691785C>T NA NA FAM71D (1128 upstream) : FAM71D (2402 downstream) NA NA NA cacttcctctctattgatctc 0.343 NA C||| 1503 0.30012 0.4402 0.2248 5008 , , NA 16982 0.4286 NA 0.0427 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 0 C 1398,2976 207,984,996 28 27 27 1.6 0 14 dbSNP_127 27 268,8232 5,258,3987 no intron FAM71D NM_173526.3 212,1242,4983 TT,TC,CC 3.1529,31.9616,12.9408 67691785 1666,11208 2187 4250 6437 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.67691785C>T NA hg19 0.02 6.416565 TCTxTAT COVERED NOVEL 0 3 2.70842 KEEP 0 0 0 9 294 CC 0.99254 0.99254 0 12 60 413 0 0 28.358564 153 60 5751 176 0.072727 1 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67769177 67769177 __UNKNOWN__ Silent SNP A A C rs10146663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67769177A>C ENST00000261681.4 + 7 1513 c.852A>C c.(850-852)gtA>gtC p.V284V MPP5_ENST00000555925.1_Silent_p.V250V NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) 284 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) GCCGGATAGTAAAAGGGGGTG 0.343 NA A||| 1493 0.298123 0.4357 0.2248 5008 , , NA 12598 0.4196 NA 0.0427 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 A 1461,2945 459.6+/-352.3 230,1001,972 101 106 104 852 -4 1 14 dbSNP_119 104 287,8313 103.6+/-164.7 5,277,4018 no coding-synonymous MPP5 NM_022474.2 235,1278,4990 CC,CA,AA 3.3372,33.1593,13.44 284/676 67769177 1748,11258 2203 4300 6503 SO:0001819 synonymous_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.852A>C chr14.hg19:g.67769177A>C NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 7.292634 AGTxAAA COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 6 16.248361 KEEP 0 0 0 54 1671 AA 1 1 0 + 14 60 546 0 0 39.956198 165 60 5830 305 ENST00000261681.4 0.078212 1 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67779506 67779506 __UNKNOWN__ Intron SNP C C T rs12588292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67779506C>T ENST00000261681.4 + 9 1886 ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AAAACTCACTCTTTCATGCCT 0.353 NA T||| 1706 0.340655 0.4902 0.2478 5008 , , NA 18015 0.497 NA 0.0716 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.1225+79C>T chr14.hg19:g.67779506C>T NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 2.217398 ACTxTTT COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 0 5.116861 KEEP 0 0 0 17 617 CC 0.999366 0.993073 0 + 8 60 279 0 0 21.246952 56 60 2158 90 ENST00000261681.4 0.125 0.993703 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67784005 67784005 __UNKNOWN__ Intron SNP T T C rs1475129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67784005T>C ENST00000261681.4 + 11 1958 ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) catatggagatctcgtttctg 0.403 NA C||| 1502 0.29992 0.4349 0.2248 5008 , , NA 14920 0.4286 NA 0.0427 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.1298-120T>C chr14.hg19:g.67784005T>C NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 -0.263038 AGAxCTC COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 0 2.405919 KEEP 0 0 0 8 231 TT 0.99257 0.688515 0 + 4 60 150 0 0 11.794095 26 60 914 40 ENST00000261681.4 0.133333 0.693668 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67784071 67784071 __UNKNOWN__ Intron SNP T T C rs1475128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67784071T>C ENST00000261681.4 + 11 1958 ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) ATTTGAGTTATGTGGTTTTGT 0.333 NA T||| 1470 0.29353 0.4123 0.2219 5008 , , NA 17278 0.4286 NA 0.0427 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 T 445,939 74,297,321 133 111 118 -3.6 0 14 dbSNP_88 118 113,3069 2,109,1480 no intron MPP5 NM_022474.2 76,406,1801 CC,CT,TT 3.5512,32.1532,12.2208 67784071 558,4008 692 1591 2283 SO:0001627 intron_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.1298-54T>C chr14.hg19:g.67784071T>C NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 2.364448 TTAxGTG COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 1 4.511963 KEEP 0 0 0 15 451 TT 0.99649 0.993663 0 + 6 60 234 0 0 17.332878 65 60 2395 104 ENST00000261681.4 0.084507 0.997163 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67786924 67786924 __UNKNOWN__ Intron SNP A A G rs3809387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67786924A>G ENST00000261681.4 + 12 2030 ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Intron NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTGTTTGAAGAGCTTAACTTT 0.328 NA G||| 1502 0.29992 0.4349 0.2248 5008 , , NA 17228 0.4286 NA 0.0427 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 G 1459,2947 658.7+/-400.4 229,1001,973 53 53 53 -3 0 14 dbSNP_107 53 288,8310 800.0+/-407.4 5,278,4016 no intron MPP5 NM_022474.2 234,1279,4989 GG,GA,AA 3.3496,33.1139,13.4343 67786924 1747,11257 2203 4299 6502 SO:0001627 intron_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.1370-23A>G chr14.hg19:g.67786924A>G NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 9.332441 AAGxGCT COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 1 6.620798 KEEP 0 0 0 22 718 AA 0.999879 0.999879 0 + 12 60 441 0 0 29.664758 206 60 7239 266 ENST00000261681.4 0.055046 1 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67800158 67800158 __UNKNOWN__ 3'UTR SNP T T G rs12590952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67800158T>G ENST00000261681.4 + 0 3174 ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_3'UTR NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) GGAAACTAATTTAGTCATCAG 0.348 NA T||| 1502 0.29992 0.4349 0.2233 5008 , , NA 19087 0.4296 NA 0.0427 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.*485T>G chr14.hg19:g.67800158T>G NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 7.039369 AATxTAG COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 3 8.425016 KEEP 0 0 0 28 883 TT 0.999997 0.999997 0 + 15 60 569 0 0 41.451518 170 60 6192 255 ENST00000261681.4 0.081081 1 MPP5 64398 __UNKNOWN__ __UNKNOWN__ 14 67800316 67800316 __UNKNOWN__ 3'UTR SNP G G A rs960797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67800316G>A ENST00000261681.4 + 0 3332 ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_3'UTR NM_022474.3 NP_071919.2 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5) NA NA cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923) protein domain specific binding (GO:0019904) cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 18 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTTTTGCTCAGACTTTGTGGA 0.299 NA A||| 1709 0.341254 0.4909 0.2478 5008 , , NA 18385 0.498 NA 0.0726 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022677 CCDS9779.1, CCDS58325.1 14q23.3 2008-08-11 ENSG00000072415 64398 18669 protein-coding gene gene with protein product stardust 606958 NA 11927608 Standard NM_022474 NM_022474 NA Approved PALS1, FLJ12615 uc001xjc.4 Q8N3R9 ENST00000261681.4:c.*643G>A chr14.hg19:g.67800316G>A NA A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0 hg19 CCDS9779.1 0.02 6.551372 TCAxACT COVERED NOVEL MPP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412498.1 0 12.3401 KEEP 0 0 0 41 1463 GG 1 1 0 + 10 60 369 0 0 25.402488 151 60 5762 242 ENST00000261681.4 0.062112 1 ATP6V1D 51382 __UNKNOWN__ __UNKNOWN__ 14 67805253 67805253 __UNKNOWN__ 3'UTR SNP A A C rs1045060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67805253A>C ENST00000555474.1 - 0 636 ATP6V1D_ENST00000555431.1_3'UTR|ATP6V1D_ENST00000216442.7_3'UTR|ATP6V1D_ENST00000554236.1_3'UTR Q9Y5K8 VATD_HUMAN ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D NA NA cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATPase activity, coupled to transmembrane movement of substances (GO:0042626) lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 7 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) GCCAAAAAATAAATAGCCACA 0.323 NA A||| 1501 0.29972 0.4349 0.2248 5008 , , NA 18356 0.4276 NA 0.0427 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF145316 CCDS9780.1 14q23-q24.2 2010-04-21 2002-08-29 2002-05-10 ENSG00000100554 ENSG00000100554 51382 ATPases / V-type 13527 protein-coding gene gene with protein product 609398 ATPase, H+ transporting, lysosomal (vacuolar proton pump) ATP6M NA 9442887 Standard NM_015994 NM_015994 NA Approved VATD, VMA8 uc001xjf.3 Q9Y5K8 ENST00000555474.1:c.*85T>G chr14.hg19:g.67805253A>C NA B2RE33|Q9Y688 hg19 0.02 11.179968 AATxAAT COVERED NOVEL ATP6V1D-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412510.1 0 10.229399 KEEP 0 0 0 34 1072 AA 0.999998 0.999998 0 - 13 60 492 0 0 32.798499 256 60 9140 324 ENST00000555474.1 0.048327 1 ATP6V1D 51382 __UNKNOWN__ __UNKNOWN__ 14 67810033 67810033 __UNKNOWN__ Intron SNP C C T rs2319777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67810033C>T ENST00000555474.1 - 3 331 ATP6V1D_ENST00000555431.1_Intron|ATP6V1D_ENST00000216442.7_Intron|ATP6V1D_ENST00000554236.1_Intron Q9Y5K8 VATD_HUMAN ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D NA NA cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATPase activity, coupled to transmembrane movement of substances (GO:0042626) lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 7 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) AGCAGTTTCACGACAAGTGGA 0.423 NA T||| 2270 0.453275 0.7526 0.379 5008 , , NA 20847 0.5149 NA 0.1272 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 T 896,488 299,298,95 115 100 104 -5.2 0 14 dbSNP_100 104 446,2736 33,380,1178 no intron ATP6V1D NM_015994.3 332,678,1273 TT,TC,CC 14.0163,35.2601,29.3912 67810033 1342,3224 692 1591 2283 SO:0001627 intron_variant AF145316 CCDS9780.1 14q23-q24.2 2010-04-21 2002-08-29 2002-05-10 ENSG00000100554 ENSG00000100554 51382 ATPases / V-type 13527 protein-coding gene gene with protein product 609398 ATPase, H+ transporting, lysosomal (vacuolar proton pump) ATP6M NA 9442887 Standard NM_015994 NM_015994 NA Approved VATD, VMA8 uc001xjf.3 Q9Y5K8 ENST00000555474.1:c.226+55G>A chr14.hg19:g.67810033C>T NA B2RE33|Q9Y688 hg19 0.02 4.540027 TCAxGAC COVERED NOVEL ATP6V1D-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412510.1 1 10.534108 KEEP 0 0 0 35 1212 CC 0.999999 0.999997 0 - 10 60 369 0 0 26.802322 108 60 3939 204 ENST00000555474.1 0.084746 0.999998 ATP6V1D 51382 __UNKNOWN__ __UNKNOWN__ 14 67814234 67814234 __UNKNOWN__ Intron SNP C C T rs73284844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67814234C>T ENST00000555474.1 - 3 264 ATP6V1D_ENST00000555431.1_Intron|ATP6V1D_ENST00000216442.7_Intron|ATP6V1D_ENST00000554236.1_Intron Q9Y5K8 VATD_HUMAN ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D NA NA cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATPase activity, coupled to transmembrane movement of substances (GO:0042626) lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 7 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) ttttttttttctgagacggag 0.443 NA T||| 1538 0.307109 0.444 0.2305 5008 , , NA 15683 0.4315 NA 0.0537 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 42 69 61 NA NA 14 NA 67814234 692 1591 2283 SO:0001627 intron_variant AF145316 CCDS9780.1 14q23-q24.2 2010-04-21 2002-08-29 2002-05-10 ENSG00000100554 ENSG00000100554 51382 ATPases / V-type 13527 protein-coding gene gene with protein product 609398 ATPase, H+ transporting, lysosomal (vacuolar proton pump) ATP6M NA 9442887 Standard NM_015994 NM_015994 NA Approved VATD, VMA8 uc001xjf.3 Q9Y5K8 ENST00000555474.1:c.160-4079G>A chr14.hg19:g.67814234C>T NA B2RE33|Q9Y688 hg19 0.02 -0.385867 TTTxTGA COVERED NOVEL ATP6V1D-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412510.1 2 5.417397 KEEP 0 0 0 18 619 CC 0.999859 0.918042 0 - 5 60 174 0 0 13.241662 35 60 1336 65 ENST00000555474.1 0.125 0.918171 ATP6V1D 51382 __UNKNOWN__ __UNKNOWN__ 14 67819602 67819602 __UNKNOWN__ Intron SNP T T C rs8020850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67819602T>C ENST00000555474.1 - 2 264 ATP6V1D_ENST00000555431.1_Intron|ATP6V1D_ENST00000216442.7_Intron|ATP6V1D_ENST00000554236.1_Intron Q9Y5K8 VATD_HUMAN ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D NA NA cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATPase activity, coupled to transmembrane movement of substances (GO:0042626) lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 7 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) GCTGGATTTTTCTAAAATAAA 0.269 NA C||| 1705 0.340455 0.4818 0.2478 5008 , , NA 15838 0.5069 NA 0.0716 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 C 1484,2912 290,904,1004 58 62 60 -3.8 0 14 dbSNP_116 60 528,8062 19,490,3786 no intron ATP6V1D NM_015994.3 309,1394,4790 CC,CT,TT 6.1467,33.758,15.4936 67819602 2012,10974 2198 4295 6493 SO:0001627 intron_variant AF145316 CCDS9780.1 14q23-q24.2 2010-04-21 2002-08-29 2002-05-10 ENSG00000100554 ENSG00000100554 51382 ATPases / V-type 13527 protein-coding gene gene with protein product 609398 ATPase, H+ transporting, lysosomal (vacuolar proton pump) ATP6M NA 9442887 Standard NM_015994 NM_015994 NA Approved VATD, VMA8 uc001xjf.3 Q9Y5K8 ENST00000555474.1:c.159+37A>G chr14.hg19:g.67819602T>C NA B2RE33|Q9Y688 hg19 0.02 6.718942 TTTxCTA COVERED NOVEL ATP6V1D-002 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412510.1 4 9.926687 KEEP 0 0 0 33 962 TT 0.999998 0.999998 0 - 10 60 373 0 0 25.403436 166 70 5847 221 ENST00000555474.1 0.056818 1 EIF2S1 1965 __UNKNOWN__ __UNKNOWN__ 14 67830856 67830856 __UNKNOWN__ 5'UTR SNP A A G rs12588458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67830856A>G ENST00000466499.2 + 0 132 EIF2S1_ENST00000256383.4_Intron P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844) poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) ATTGGGGATAAGAGAAGCTAG 0.289 NA G||| 2167 0.432708 0.7201 0.3631 5008 , , NA 18325 0.5089 NA 0.1024 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant J02645 CCDS9781.1 14q21.3 2011-01-07 2002-08-29 ENSG00000134001 ENSG00000134001 1965 3265 protein-coding gene gene with protein product 603907 eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD ) EIF2 NA 2948954 Standard NM_004094 NM_004094 NA Approved EIF-2alpha, EIF2A uc001xjg.3 P05198 OTTHUMG00000029800 ENST00000466499.2:c.-629A>G chr14.hg19:g.67830856A>G NA hg19 CCDS9781.1 0.02 6.860683 ATAxGAG COVERED NOVEL EIF2S1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360225.1 2 16.852635 KEEP 0 0 0 56 1836 AA 1 1 0 + 8 60 303 0 0 19.642282 186 60 6887 311 ENST00000466499.2 0.041237 1 EIF2S1 1965 __UNKNOWN__ __UNKNOWN__ 14 67831459 67831459 __UNKNOWN__ 5'UTR SNP C C T rs571341446|rs6573769 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67831459C>T ENST00000466499.2 + 0 735 EIF2S1_ENST00000256383.4_Intron P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844) poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) TGAATACTTACTTAATTCTTT 0.313 NA T||| 1692 0.337859 0.4826 0.2478 5008 , , NA 17020 0.495 NA 0.0706 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 T 1584,2822 631.1+/-395.6 284,1016,903 32 34 34 -0.3 0 14 dbSNP_116 34 605,7993 776.1+/-407.7 18,569,3712 no intron EIF2S1 NM_004094.4 302,1585,4615 TT,TC,CC 7.0365,35.951,16.8333 67831459 2189,10815 2203 4299 6502 SO:0001623 5_prime_UTR_variant J02645 CCDS9781.1 14q21.3 2011-01-07 2002-08-29 ENSG00000134001 ENSG00000134001 1965 3265 protein-coding gene gene with protein product 603907 eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD ) EIF2 NA 2948954 Standard NM_004094 NM_004094 NA Approved EIF-2alpha, EIF2A uc001xjg.3 P05198 OTTHUMG00000029800 ENST00000466499.2:c.-26C>T chr14.hg19:g.67831459C>T NA hg19 CCDS9781.1 0.02 12.683203 TTAxTTA COVERED NOVEL EIF2S1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000360225.1 1 12.636423 KEEP 0 0 0 42 1452 CC 1 1 0 + 17 60 591 0 0 38.824556 285 60 10061 372 ENST00000466499.2 0.056291 1 EIF2S1 1965 __UNKNOWN__ __UNKNOWN__ 14 67847511 67847511 __UNKNOWN__ Intron SNP G G A rs10132093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67847511G>A ENST00000256383.4 + 5 1041 EIF2S1_ENST00000466499.2_Intron NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844) poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) GATTTTTACAGTATTTTGCAT 0.294 NA A||| 2266 0.452476 0.7526 0.379 5008 , , NA 15577 0.5119 NA 0.1272 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 A 2666,1698 841,984,357 22 24 23 1.2 0 14 dbSNP_119 23 1091,7479 72,947,3266 no intron EIF2S1 NM_004094.4 913,1931,3623 AA,AG,GG 12.7305,38.9093,29.0475 67847511 3757,9177 2182 4285 6467 SO:0001627 intron_variant J02645 CCDS9781.1 14q21.3 2011-01-07 2002-08-29 ENSG00000134001 ENSG00000134001 1965 3265 protein-coding gene gene with protein product 603907 eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD ) EIF2 NA 2948954 Standard NM_004094 NM_004094 NA Approved EIF-2alpha, EIF2A uc001xjg.3 P05198 OTTHUMG00000029800 ENST00000256383.4:c.580+29G>A chr14.hg19:g.67847511G>A NA hg19 CCDS9781.1 0.02 2.112039 ACAxTAT COVERED NOVEL EIF2S1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074342.3 0 6.320578 KEEP 0 0 0 21 756 GG 0.999869 0.998737 0 + 6 60 227 0 0 16.412647 71 60 2704 123 ENST00000256383.4 0.077922 0.998867 EIF2S1 1965 __UNKNOWN__ __UNKNOWN__ 14 67849139 67849139 __UNKNOWN__ Intron SNP A A T rs2296561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67849139A>T ENST00000256383.4 + 7 1139 EIF2S1_ENST00000466499.2_Intron NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844) poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) ACATTCATAAATGAATTTTTG 0.368 NA T||| 2266 0.452476 0.7526 0.379 5008 , , NA 18434 0.5119 NA 0.1272 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 T 2767,1639 498.6+/-364.2 880,1007,316 55 54 54 -1.2 0 14 dbSNP_100 54 1099,7501 766.1+/-407.6 69,961,3270 no intron EIF2S1 NM_004094.4 949,1968,3586 TT,TA,AA 12.7791,37.1993,29.7247 67849139 3866,9140 2203 4300 6503 SO:0001627 intron_variant J02645 CCDS9781.1 14q21.3 2011-01-07 2002-08-29 ENSG00000134001 ENSG00000134001 1965 3265 protein-coding gene gene with protein product 603907 eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD ) EIF2 NA 2948954 Standard NM_004094 NM_004094 NA Approved EIF-2alpha, EIF2A uc001xjg.3 P05198 OTTHUMG00000029800 ENST00000256383.4:c.679-25A>T chr14.hg19:g.67849139A>T NA hg19 CCDS9781.1 0.02 7.150035 TAAxTGA COVERED NOVEL EIF2S1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074342.3 4 7.523558 KEEP 0 0 0 25 818 AA 0.999931 0.999931 0 + 8 60 308 0 0 20.825879 152 60 5488 209 ENST00000256383.4 0.05 1 EIF2S1 1965 __UNKNOWN__ __UNKNOWN__ 14 67852731 67852731 __UNKNOWN__ 3'UTR SNP C C G rs10131175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:67852731C>G ENST00000256383.4 + 0 3983 NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413) cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844) poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) TGCCCCAACCCCAAGGTAATG 0.423 NA C||| 1498 0.299121 0.4357 0.2248 5008 , , NA 18577 0.4246 NA 0.0427 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant J02645 CCDS9781.1 14q21.3 2011-01-07 2002-08-29 ENSG00000134001 ENSG00000134001 1965 3265 protein-coding gene gene with protein product 603907 eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD ) EIF2 NA 2948954 Standard NM_004094 NM_004094 NA Approved EIF-2alpha, EIF2A uc001xjg.3 P05198 OTTHUMG00000029800 ENST00000256383.4:c.*2574C>G chr14.hg19:g.67852731C>G NA hg19 CCDS9781.1 0.02 8.753054 ACCxCAA COVERED NOVEL EIF2S1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074342.3 3 11.437211 KEEP 0 0 0 38 1342 CC 1 1 0 + 15 60 526 0 0 36.461409 190 60 6912 299 ENST00000256383.4 0.073171 1 PIGH 5283 __UNKNOWN__ __UNKNOWN__ 14 68056442 68056442 __UNKNOWN__ 3'UTR SNP G G A rs368139099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:68056442G>A ENST00000216452.4 - 0 1005 NM_004569.3 NP_004560.1 Q14442 PIGH_HUMAN phosphatidylinositol glycan anchor biosynthesis, class H NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506) catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) CAAGACATCTGATGTCAGTTT 0.373 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 21802 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9784.1 14q24.1 2013-02-26 2006-06-28 ENSG00000100564 ENSG00000100564 5283 2.4.1.198 Phosphatidylinositol glycan anchor biosynthesis 8964 protein-coding gene gene with protein product phosphatidylinositol N-acetylglucosaminyltransferase subunit 600154 phosphatidylinositol glycan, class H NA 8204896 Standard NM_004569 NM_004569 NA Approved GPI-H uc001xjr.1 Q14442 OTTHUMG00000171806 ENST00000216452.4:c.*355C>T chr14.hg19:g.68056442G>A NA B2RAA4 hg19 CCDS9784.1 0.02 10.695234 TCTxATG COVERED NOVEL PIGH-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000415189.2 2 12.639494 KEEP 0 0 0 42 1444 GG 1 1 0 - 8 60 300 0 0 17.924001 282 60 10759 349 ENST00000216452.4 0.027586 1 PIGH 5283 __UNKNOWN__ __UNKNOWN__ 14 68056696 68056696 __UNKNOWN__ 3'UTR SNP G G C rs142424619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:68056696G>C ENST00000560722.1 - 0 729 PIGH_ENST00000216452.4_3'UTR Q14442 PIGH_HUMAN phosphatidylinositol glycan anchor biosynthesis, class H NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506) catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) ATGGTTCCTAGGACTGTGTCC 0.463 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 19677 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9784.1 14q24.1 2013-02-26 2006-06-28 ENSG00000100564 ENSG00000100564 5283 2.4.1.198 Phosphatidylinositol glycan anchor biosynthesis 8964 protein-coding gene gene with protein product phosphatidylinositol N-acetylglucosaminyltransferase subunit 600154 phosphatidylinositol glycan, class H NA 8204896 Standard NM_004569 NM_004569 NA Approved GPI-H uc001xjr.1 Q14442 OTTHUMG00000171806 ENST00000560722.1:c.*101C>G chr14.hg19:g.68056696G>C NA B2RAA4 hg19 0.02 22.647532 CTAxGAC COVERED NOVEL PIGH-010 NOVEL NAGNAG_splice_site|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000417013.1 3 21.971711 KEEP 0 0 0 73 2622 GG 1 1 0 - 23 60 795 0 0 48.412847 561 60 20975 788 ENST00000560722.1 0.039384 1 RDH11 51109 __UNKNOWN__ __UNKNOWN__ 14 68144191 68144191 __UNKNOWN__ 3'UTR SNP A A G rs1059238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:68144191A>G ENST00000381346.4 - 0 1914 RP11-1012A1.4_ENST00000554493.1_Intron|RDH11_ENST00000553384.1_3'UTR|RP11-1012A1.4_ENST00000553306.1_Intron NM_001252650.1|NM_016026.3 NP_001239579.1|NP_057110.3 Q8TC12 RDH11_HUMAN retinol dehydrogenase 11 (all-trans/9-cis/11-cis) NA NA adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917) NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1) 12 all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924) Vitamin A(DB00162) CATATTTAATATCTTTTGCTA 0.343 NA G||| 878 0.175319 0.2587 0.17 5008 , , NA 16684 0.2083 NA 0.1183 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF151840 CCDS32104.1, CCDS58326.1 14q24.1 2013-10-15 2006-05-09 ENSG00000072042 ENSG00000072042 51109 1.1.1.- Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2 17964 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 7C, member 1, androgen-regulated short-chain dehydrogenase/reductase 1 607849 retinol dehydrogenase 11 (all-trans and 9-cis) NA 12226107, 8018917, 19027726 Standard NM_016026 NA Approved MDT1, SDR7C1, ARSDR1 uc001xjv.4 Q8TC12 OTTHUMG00000171196 ENST00000381346.4:c.*847T>C chr14.hg19:g.68144191A>G NA A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391 hg19 CCDS32104.1 0.02 2.37865 AATxTCT COVERED NOVEL RDH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412257.3 2 3.30984 KEEP 0 0 0 11 339 AA 0.993072 0.977343 0 - 7 60 271 0 0 21.163947 51 60 1806 76 ENST00000381346.4 0.12069 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 68162559 68162559 __UNKNOWN__ IGR SNP A A G rs17104597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:68162559A>G NA NA RDH11 (28 upstream) : RDH12 (6043 downstream) NA NA NA CCAGAGCTTGACAGCCTCAGG 0.567 NA g||| 891 0.177915 0.2587 0.1758 5008 , , NA 16887 0.2083 NA 0.1262 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.68162559A>G NA hg19 0.02 15.431063 TTGxCAG COVERED NOVEL 0 2 29.187695 KEEP 0 0 0 97 3031 AA 1 1 0 11 60 415 0 0 25.350335 352 60 12393 587 0.030303 1 GALNT16 57452 __UNKNOWN__ __UNKNOWN__ 14 69814677 69814677 __UNKNOWN__ Silent SNP C C G rs186654489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:69814677C>G ENST00000337827.4 + 14 1824 c.1497C>G c.(1495-1497)tcC>tcG p.S499S GALNT16_ENST00000553669.1_Silent_p.S499S|GALNT16_ENST00000448469.3_Silent_p.S499S NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 Q8N428 GLT16_HUMAN polypeptide N-acetylgalactosaminyltransferase 16 499 Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}. NA protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) NA CCCCTGGATCCCCAGTCATAC 0.622 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 17851 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 0,4406 0,0,2203 134 103 113 1497,1497 4.9 1 14 113 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous GALNTL1 NM_001168368.1,NM_020692.2 , 0,1,6502 GG,GC,CC 0.0116,0.0,0.0077 , 499/559,499/559 69814677 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AB032956 CCDS32107.1 14q24.1 2014-03-13 2014-03-13 2013-01-25 ENSG00000100626 ENSG00000100626 57452 2.4.1.41 Glycosyltransferase family 2 domain containing 23233 protein-coding gene gene with protein product polypeptide GalNAc transferase 16 615132 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GALNTL1 NA 10574461, 22186971 Standard NM_001168368 NM_020692 NA Approved KIAA1130, GalNAc-T16 uc010aqu.2 Q8N428 OTTHUMG00000171231 ENST00000337827.4:c.1497C>G chr14.hg19:g.69814677C>G NA Q4KMG3|Q58A55|Q9ULT9 hg19 CCDS32107.1 0.02 9.410415 ATCxCCA COVERED NOVEL GALNT16-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412434.1 2 10.834755 KEEP 0 0 0 36 1263 CC 0.999999 0.999999 0 + 8 60 302 0 0 18.755293 235 60 8628 342 ENST00000337827.4 0.032922 1 KIAA0247 9766 __UNKNOWN__ __UNKNOWN__ 14 70171418 70171418 __UNKNOWN__ Silent SNP T T C rs2275124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70171418T>C ENST00000342745.4 + 4 730 c.417T>C c.(415-417)ttT>ttC p.F139F NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 139 NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) TGGTGCTGTTTGTGCTGCTGC 0.552 NA T||| 296 0.0591054 0.025 0.0331 5008 , , NA 19412 0.1478 NA 0.0507 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 T 123,4283 93.0+/-131.7 1,121,2081 87 70 76 417 -0.8 1 14 dbSNP_100 76 397,8203 127.5+/-185.8 11,375,3914 no coding-synonymous KIAA0247 NM_014734.3 12,496,5995 CC,CT,TT 4.6163,2.7916,3.9982 139/304 70171418 520,12486 2203 4300 6503 SO:0001819 synonymous_variant D87434 CCDS9796.1 14q24.1 2012-11-29 ENSG00000100647 ENSG00000100647 9766 19956 protein-coding gene gene with protein product NA 9039502 Standard NM_014734 NM_014734 NA Approved uc001xlk.3 Q92537 OTTHUMG00000171234 ENST00000342745.4:c.417T>C chr14.hg19:g.70171418T>C NA hg19 CCDS9796.1 0.02 5.200434 GTTxGTG COVERED NOVEL KIAA0247-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412453.1 0 18.355809 KEEP 0 0 0 61 1925 TT 1 1 0 + 7 60 228 0 0 13.13627 183 60 6699 312 ENST00000342745.4 0.036842 1 ADAM21P1 145241 __UNKNOWN__ __UNKNOWN__ 14 70713586 70713586 __UNKNOWN__ RNA SNP T T G rs150958502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70713586T>G ENST00000530196.1 - 0 932 NR_003951.1 ADAM metallopeptidase domain 21 pseudogene 1 NA NA NA GGAAAACATTTCCTTGATTCC 0.373 NA T||| 576 0.115016 0.18 0.0634 5008 , , NA 25213 0.1875 NA 0.0706 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 14q24.2 2014-03-25 2010-01-12 2010-01-12 ENSG00000235812 ENSG00000235812 145241 19822 pseudogene pseudogene a disintegrin and metalloproteinase domain 21 pseudogene, ADAM metallopeptidase domain 21 pseudogene ADAM21P NA Standard NG_002467 NR_003951 NA Approved uc010ttg.2 OTTHUMG00000166565 ENST00000530196.1: chr14.hg19:g.70713586T>G NA hg19 0.02 27.382615 ATTxCCT COVERED NOVEL ADAM21P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000390451.1 4 3.784169 KEEP 3 2 73 38 1263 TT 1 1 0 - 16 60 596 0 0 34.834281 619 60 22363 805 ENST00000530196.1 0.025197 1 ADAM21P1 145241 __UNKNOWN__ __UNKNOWN__ 14 70713981 70713981 __UNKNOWN__ RNA SNP A A G rs12586570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70713981A>G ENST00000530196.1 - 0 537 NR_003951.1 ADAM metallopeptidase domain 21 pseudogene 1 NA NA NA AATACTCCTCAAAAGCCCCCA 0.458 NA A||| 1009 0.201478 0.2821 0.0965 5008 , , NA 19680 0.2758 NA 0.161 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 14q24.2 2014-03-25 2010-01-12 2010-01-12 ENSG00000235812 ENSG00000235812 145241 19822 pseudogene pseudogene a disintegrin and metalloproteinase domain 21 pseudogene, ADAM metallopeptidase domain 21 pseudogene ADAM21P NA Standard NG_002467 NR_003951 NA Approved uc010ttg.2 OTTHUMG00000166565 ENST00000530196.1: chr14.hg19:g.70713981A>G NA hg19 0.02 6.793019 CTCxAAA COVERED NOVEL ADAM21P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000390451.1 1 4.813096 KEEP 0 0 0 16 477 AA 0.997832 0.997832 0 - 9 60 309 0 0 19.735773 169 60 6132 226 ENST00000530196.1 0.050562 1 ADAM21 8747 __UNKNOWN__ __UNKNOWN__ 14 70924294 70924294 __UNKNOWN__ Silent SNP C C T rs112060847 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70924294C>T ENST00000603540.1 + 2 336 c.78C>T c.(76-78)tcC>tcT p.S26S ADAM21_ENST00000267499.3_Silent_p.S26S|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 26 NA binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGTCTATTTCCGGCTACTGTC 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 101 110 107 NA NA 14 NA 70924294 2203 4300 6503 SO:0001819 synonymous_variant AF029900 CCDS9804.1 14q24.1 2008-09-05 2005-08-18 ENSG00000139985 ENSG00000139985 8747 ADAM metallopeptidase domain containing 200 protein-coding gene gene with protein product 603713 a disintegrin and metalloproteinase domain 21 NA 9469942 Standard NM_003813 NA Approved ADAM31 uc001xmd.3 Q9UKJ8 ENST00000603540.1:c.78C>T chr14.hg19:g.70924294C>T NA O43507|Q2VPC6|Q32MR0 hg19 CCDS9804.1 0.02 3.85361 TTCxGGC COVERED NOVEL ADAM21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413008.3 1 2.641797 KEEP 6 1 26 18 610 CC 0.99986 0.999859 0 + 5 27 184 0 0 11.619519 123 60 4340 205 ENST00000603540.1 0.039062 1 ADAM21 8747 __UNKNOWN__ __UNKNOWN__ 14 70925102 70925102 __UNKNOWN__ Missense_Mutation SNP C C T rs141927799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70925102C>T ENST00000603540.1 + 2 1144 c.886C>T c.(886-888)Cat>Tat p.H296Y ADAM21_ENST00000267499.3_Missense_Mutation_p.H296Y|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 296 Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}. NA binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGATGCTGCACATATGTTCAT 0.383 NA C||| 18 0.00359425 0.0 0.0014 5008 , , NA 22678 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C TYR/HIS 3,4403 6.2+/-15.9 0,3,2200 93 93 93 886 3.4 1 14 dbSNP_134 93 1,8599 1.2+/-3.3 0,1,4299 yes missense ADAM21 NM_003813.3 83 0,4,6499 TT,TC,CC 0.0116,0.0681,0.0308 probably-damaging 296/723 70925102 4,13002 2203 4300 6503 SO:0001583 missense AF029900 CCDS9804.1 14q24.1 2008-09-05 2005-08-18 ENSG00000139985 ENSG00000139985 8747 ADAM metallopeptidase domain containing 200 protein-coding gene gene with protein product 603713 a disintegrin and metalloproteinase domain 21 NA 9469942 Standard NM_003813 NA Approved ADAM31 uc001xmd.3 Q9UKJ8 ENST00000603540.1:c.886C>T chr14.hg19:g.70925102C>T ENSP00000474385:p.His296Tyr NA O43507|Q2VPC6|Q32MR0 hg19 CCDS9804.1 0.02 30.493761 GCAxATA COVERED 14 0.00641025641025641 0 0.0 0 0.0 13 0.022727272727272728 1 0.0013192612137203166 C 15.44 2.835053 0.50951 6.81E-4 1.16E-4 ENSG00000139985 ENST00000267499 T 0.09817 2.94 4.36 3.39 0.38822 Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2); 0.000000 0.45126 D 0.000381 T 0.16599 0.0399 M 0.75615 2.305 0.30588 N 0.76181 D 0.69078 0.997 D 0.70016 0.967 T 0.02713 -1.1120 10 0.87932 D 0 . 13.2803 0.60210 0.0:0.8409:0.1591:0.0 . 296 Q9UKJ8 ADA21_HUMAN Y 296 ENSP00000267499:H296Y ENSP00000267499:H296Y H + 1 0 ADAM21 69994855 0.625000 0.27111 0.999000 0.59377 0.900000 0.52787 1.456000 0.35201 2.421000 0.82119 0.557000 0.71058 CAT NOVEL ADAM21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413008.3 8 14.744599 KEEP 0 0 0 49 1742 CC 1 1 0 + 19 60 716 0 0 42.665553 691 60 26460 876 ENST00000603540.1 0.026761 1 ADAM20P1 317760 __UNKNOWN__ __UNKNOWN__ 14 70937121 70937121 __UNKNOWN__ lincRNA SNP T T C rs7152848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70937121T>C ENST00000556964.1 - 0 1510 RP11-486O13.4_ENST00000556646.1_lincRNA NR_037933.1 ADAM metallopeptidase domain 20 pseudogene 1 NA NA NA CAACGTGGCCTGGCCTGCTAG 0.348 NA C||| 2441 0.48742 0.7731 0.2695 5008 , , NA 22656 0.6558 NA 0.2972 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC047939 14q24.2 2012-04-30 2012-04-30 2012-04-30 ENSG00000259158 ENSG00000259158 317760 20102 pseudogene pseudogene chromosome 14 open reading frame 55 C14orf55 NA Standard NR_037933 NR_037933 NA Approved uc021rvr.1 OTTHUMG00000171329 ENST00000556964.1: chr14.hg19:g.70937121T>C NA hg19 0.02 5.778648 GCCxGGC COVERED NOVEL ADAM20P1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000413009.1 1 9.629542 KEEP 0 0 0 32 1024 TT 0.999997 0.999997 0 - 6 60 209 0 0 12.332656 175 60 6643 268 ENST00000556964.1 0.033149 1 ADAM20P1 317760 __UNKNOWN__ __UNKNOWN__ 14 70937725 70937725 __UNKNOWN__ lincRNA SNP T T C rs10467821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:70937725T>C ENST00000556964.1 - 0 906 RP11-486O13.4_ENST00000556646.1_lincRNA NR_037933.1 ADAM metallopeptidase domain 20 pseudogene 1 NA NA NA CACGTGTCTTTGGCCCCGGAA 0.493 NA T||| 2451 0.489417 0.7799 0.2709 5008 , , NA 20156 0.6558 NA 0.2972 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC047939 14q24.2 2012-04-30 2012-04-30 2012-04-30 ENSG00000259158 ENSG00000259158 317760 20102 pseudogene pseudogene chromosome 14 open reading frame 55 C14orf55 NA Standard NR_037933 NR_037933 NA Approved uc021rvr.1 OTTHUMG00000171329 ENST00000556964.1: chr14.hg19:g.70937725T>C NA hg19 0.02 11.121442 CTTxGGC COVERED NOVEL ADAM20P1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000413009.1 2 18.052947 KEEP 3 0 0 60 1834 TT 1 1 0 - 12 60 420 0 0 26.133911 275 60 10010 429 ENST00000556964.1 0.041812 1 MED6 10001 __UNKNOWN__ __UNKNOWN__ 14 71050660 71050660 __UNKNOWN__ Intron SNP A A G rs59233924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71050660A>G ENST00000554963.1 - 8 743 MED6_ENST00000256379.5_3'UTR O75586 MED6_HUMAN mediator complex subunit 6 NA NA gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) ctcagcctccataactttaaa 0.383 NA A||| 1057 0.211062 0.177 0.1052 5008 , , NA 17648 0.4821 NA 0.1064 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004106 CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1 14q24.1 2013-02-28 2007-07-30 ENSG00000133997 ENSG00000133997 10001 19970 protein-coding gene gene with protein product 602984 mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae) NA 9234719, 9671713 Standard NM_005466 NM_001284209 NA Approved NY-REN-28 uc001xmf.3 O75586 OTTHUMG00000171252 ENST00000554963.1:c.737+873T>C chr14.hg19:g.71050660A>G NA B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1 hg19 0.02 2.071561 TCCxTAA COVERED NOVEL MED6-012 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000413010.1 0 3.307562 KEEP 0 0 0 11 315 AA 0.993072 0.992968 0 - 5 60 190 0 0 12.928048 88 60 3196 113 ENST00000554963.1 0.053763 0.999895 MED6 10001 __UNKNOWN__ __UNKNOWN__ 14 71050892 71050892 __UNKNOWN__ Intron SNP A A G rs11158867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71050892A>G ENST00000554963.1 - 8 743 MED6_ENST00000256379.5_3'UTR|MED6_ENST00000430055.2_3'UTR O75586 MED6_HUMAN mediator complex subunit 6 NA NA gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) AACATCCTTTATGTCTTCAAA 0.269 NA G||| 2223 0.44389 0.7126 0.2594 5008 , , NA 18799 0.5645 NA 0.2485 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 G 1102,644 357,388,128 44 46 45 -0.4 0 14 dbSNP_120 45 908,3070 96,716,1177 no near-gene-3 453,1104,1305 GG,GA,AA 22.8255,36.8843,35.1153 71050892 2010,3714 873 1989 2862 SO:0001627 intron_variant BC004106 CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1 14q24.1 2013-02-28 2007-07-30 ENSG00000133997 ENSG00000133997 10001 19970 protein-coding gene gene with protein product 602984 mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae) NA 9234719, 9671713 Standard NM_005466 NM_001284209 NA Approved NY-REN-28 uc001xmf.3 O75586 OTTHUMG00000171252 ENST00000554963.1:c.737+641T>C chr14.hg19:g.71050892A>G NA B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1 hg19 0.02 19.692598 TTTxTGT COVERED NOVEL MED6-012 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000413010.1 4 11.132862 KEEP 0 0 0 37 1133 AA 1 1 0 - 18 60 645 0 0 40.189617 438 60 15881 565 ENST00000554963.1 0.039474 1 MED6 10001 __UNKNOWN__ __UNKNOWN__ 14 71051088 71051088 __UNKNOWN__ Intron SNP A A G rs45523543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71051088A>G ENST00000554963.1 - 8 743 MED6_ENST00000256379.5_3'UTR|MED6_ENST00000430055.2_3'UTR O75586 MED6_HUMAN mediator complex subunit 6 NA NA gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) CATGATGGGAATAATATCttt 0.438 NA A||| 969 0.19349 0.115 0.098 5008 , , NA 18038 0.4821 NA 0.1054 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC004106 CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1 14q24.1 2013-02-28 2007-07-30 ENSG00000133997 ENSG00000133997 10001 19970 protein-coding gene gene with protein product 602984 mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae) NA 9234719, 9671713 Standard NM_005466 NM_001284209 NA Approved NY-REN-28 uc001xmf.3 O75586 OTTHUMG00000171252 ENST00000554963.1:c.737+445T>C chr14.hg19:g.71051088A>G NA B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1 hg19 0.02 18.584918 GGAxTAA COVERED NOVEL MED6-012 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000413010.1 7 24.06968 KEEP 0 0 0 80 2511 AA 1 1 0 - 23 60 844 0 0 56.305607 412 60 15194 606 ENST00000554963.1 0.052874 1 MAP3K9 4293 __UNKNOWN__ __UNKNOWN__ 14 71196427 71196427 __UNKNOWN__ 3'UTR SNP C C T rs2286053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71196427C>T ENST00000553414.1 - 0 3499 MAP3K9_ENST00000554752.2_3'UTR|MAP3K9_ENST00000555993.2_3'UTR P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 NA NA activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCCGTCCCCCCGTTCTCACTG 0.493 NA T||| 248 0.0495208 0.0477 0.0187 5008 , , NA 21253 0.1012 NA 0.0427 False NA ,,, NA NA NA 2504 0.0276 NA NA NA GBM(114;411 1587 13539 28235 50070) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF251442 CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1 14q24.2 2012-10-02 ENSG00000006432 ENSG00000006432 4293 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6861 protein-coding gene gene with protein product 600136 MLK1 NA Standard NM_001284231 NA Approved PRKE1, MEKK9 uc001xml.3 P80192 OTTHUMG00000171249 ENST00000553414.1:c.*670G>A chr14.hg19:g.71196427C>T NA A3KN85|Q0D2G7|Q6EH31|Q9H2N5 hg19 0.02 14.2412 CCCxGTT COVERED NOVEL MAP3K9-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412552.1 1 13.543778 KEEP 0 0 0 45 1570 CC 1 1 0 - 18 60 674 0 0 46.267031 288 60 10215 446 ENST00000553414.1 0.058824 1 MAP3K9 4293 __UNKNOWN__ __UNKNOWN__ 14 71232147 71232147 __UNKNOWN__ Intron SNP C C T rs55941560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71232147C>T ENST00000553414.1 - 2 218 MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000554752.2_Intron|MAP3K9_ENST00000555993.2_Intron P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 NA NA activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) cattcactcaccactcactca 0.348 NA C||| 236 0.0471246 0.0408 0.0187 5008 , , NA 19440 0.0982 NA 0.0427 False NA ,,, NA NA NA 2504 0.0276 NA NA NA GBM(114;411 1587 13539 28235 50070) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF251442 CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1 14q24.2 2012-10-02 ENSG00000006432 ENSG00000006432 4293 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6861 protein-coding gene gene with protein product 600136 MLK1 NA Standard NM_001284231 NA Approved PRKE1, MEKK9 uc001xml.3 P80192 OTTHUMG00000171249 ENST00000553414.1:c.98-4248G>A chr14.hg19:g.71232147C>T NA A3KN85|Q0D2G7|Q6EH31|Q9H2N5 hg19 0.02 2.109113 TCAxCAC COVERED NOVEL MAP3K9-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412552.1 1 3.912803 KEEP 0 0 0 13 461 CC 0.994391 0.988844 0 - 4 60 153 0 0 10.657566 62 60 2279 108 ENST00000553414.1 0.060606 0.994422 PCNX 22990 __UNKNOWN__ __UNKNOWN__ 14 71374562 71374562 __UNKNOWN__ 5'UTR SNP G G C rs113468911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71374562G>C ENST00000304743.2 + 0 441 PCNX_ENST00000439984.3_5'UTR|PCNX_ENST00000238570.5_5'UTR NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) NA NA integral component of membrane (GO:0016021) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) gcggcgccggGTGGGGATGGG 0.766 NA g||| 506 0.101038 0.0666 0.0418 5008 , , NA 6284 0.2867 NA 0.0616 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 157,4085 1,155,1965 9 8 8 1.8 1 14 dbSNP_132 8 318,7994 2,314,3840 no utr-5 PCNX NM_014982.2 3,469,5805 CC,CG,GG 3.8258,3.7011,3.7837 71374562 475,12079 2121 4156 6277 SO:0001623 5_prime_UTR_variant AF233450, AB018348 CCDS9806.1 14q24.2 2014-07-03 22990 19740 protein-coding gene gene with protein product pecanex-like 1 (Drosophila) PCNXL1 NA 9244429, 15777640 Standard NM_014982 NM_014982 NA Approved KIAA0995, KIAA0805, pecanex uc001xmo.2 Q96RV3 ENST00000304743.2:c.-6G>C chr14.hg19:g.71374562G>C NA B2RTR6|O94897|Q96AI7|Q9Y2J9 hg19 CCDS9806.1 0.02 -0.385991 CGGxTGG COVERED NOVEL PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412479.1 1 16.852774 KEEP 0 0 0 56 1890 GG 1 0.918171 0 + 4 60 131 0 0 9.192578 40 60 1414 130 ENST00000304743.2 0.090909 0.918171 PCNX 22990 __UNKNOWN__ __UNKNOWN__ 14 71374728 71374728 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71374728T>G ENST00000304743.2 + 1 599 PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Intron NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) NA NA integral component of membrane (GO:0016021) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATGGTGAGTGTGGGGGCGGGG 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 36 27 30 NA NA 14 NA 71374728 2200 4299 6499 SO:0001627 intron_variant AF233450, AB018348 CCDS9806.1 14q24.2 2014-07-03 22990 19740 protein-coding gene gene with protein product pecanex-like 1 (Drosophila) PCNXL1 NA 9244429, 15777640 Standard NM_014982 NM_014982 NA Approved KIAA0995, KIAA0805, pecanex uc001xmo.2 Q96RV3 ENST00000304743.2:c.153+8T>G chr14.hg19:g.71374728T>G NA B2RTR6|O94897|Q96AI7|Q9Y2J9 hg19 CCDS9806.1 0.02 -0.384508 GTGxGGG COVERED NOVEL PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412479.1 0 2.317086 KEEP 0 4 83 38 1058 TT 1 0.918171 0 + 4 60 102 0 0 6.33145 40 60 1361 145 ENST00000304743.2 0.090909 0.918171 PCNX 22990 __UNKNOWN__ __UNKNOWN__ 14 71492869 71492869 __UNKNOWN__ Silent SNP T T C rs79394793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:71492869T>C ENST00000304743.2 + 14 3665 c.3219T>C c.(3217-3219)gtT>gtC p.V1073V PCNX_ENST00000439984.3_Silent_p.V962V|PCNX_ENST00000238570.5_Silent_p.V1073V NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1073 NA integral component of membrane (GO:0016021) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GTAGACCAGTTTATTTCTGCA 0.338 NA T||| 45 0.00898562 0.0 0.0 5008 , , NA 17101 0.0437 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T 2,4404 4.2+/-10.8 0,2,2201 165 150 155 3219 5.6 1 14 dbSNP_133 155 0,8600 0,0,4300 no coding-synonymous PCNX NM_014982.2 0,2,6501 CC,CT,TT 0.0,0.0454,0.0154 1073/2342 71492869 2,13004 2203 4300 6503 SO:0001819 synonymous_variant AF233450, AB018348 CCDS9806.1 14q24.2 2014-07-03 22990 19740 protein-coding gene gene with protein product pecanex-like 1 (Drosophila) PCNXL1 NA 9244429, 15777640 Standard NM_014982 NM_014982 NA Approved KIAA0995, KIAA0805, pecanex uc001xmo.2 Q96RV3 ENST00000304743.2:c.3219T>C chr14.hg19:g.71492869T>C NA B2RTR6|O94897|Q96AI7|Q9Y2J9 hg19 CCDS9806.1 0.02 8.955961 AGTxTAT COVERED 31 0.014194139194139194 0 0.0 0 0.0 31 0.05419580419580419 0 0.0 T 10.06 1.247900 0.22880 4.54E-4 0.0 ENSG00000100731 ENST00000554691 . . . 5.64 5.64 0.86602 . . . . . T 0.23965 0.0580 . . . 0.80722 D 1 . . . . . . T 0.45411 -0.9263 4 . . . . 11.6216 0.51121 0.1407:0.0:0.0:0.8593 . . . . S 132 . . F + 2 0 PCNX 70562622 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.690000 0.37711 2.152000 0.67230 0.533000 0.62120 TTT NOVEL PCNX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412479.1 0 14.444172 KEEP 0 0 0 48 1535 TT 1 1 0 + 11 60 412 0 0 27.577901 205 60 7520 341 ENST00000304743.2 0.050926 1 SIPA1L1 26037 __UNKNOWN__ __UNKNOWN__ 14 72141382 72141382 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:72141382C>T ENST00000358550.2 + 9 4054 SIPA1L1_ENST00000381232.3_Intron|SIPA1L1_ENST00000537413.1_Intron|SIPA1L1_ENST00000555818.1_Intron NM_001284246.1 NP_001271175.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 NA NA actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167) cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) GTPase activator activity (GO:0005096) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) cccgggttcacgccattctcc 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007900 CCDS9807.1, CCDS61490.1, CCDS61491.1 14q24.1 2003-12-11 ENSG00000197555 26037 20284 protein-coding gene gene with protein product NA 9858596 Standard NM_015556 XM_005267514 NA Approved KIAA0440, E6TP1 uc001xmr.1 O43166 ENST00000358550.2:c.3104+2043C>T chr14.hg19:g.72141382C>T NA J3KP19|O95321|Q9UDU4|Q9UNU4 hg19 0.02 -0.03509 TCAxGCC UNCOVERED NOVEL SIPA1L1-001 NOVEL NAGNAG_splice_site|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000412807.1 7 4.813384 KEEP 13 0 0 16 494 CC 0.99257 0.019833 0 + 2 39 68 0 0 6.55005 2 9 65 86 ENST00000358550.2 0.5 0.019982 PNMA1 9240 __UNKNOWN__ __UNKNOWN__ 14 74178729 74178729 __UNKNOWN__ 3'UTR SNP G G T rs8949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:74178729G>T ENST00000316836.3 - 0 2399 NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 NA NA inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730) breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) CAATTAAACTGGTCGACATGT 0.328 NA G||| 539 0.107628 0.0537 0.0965 5008 , , NA 19752 0.1766 NA 0.1362 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF037364 CCDS9818.1 14q24.3 2012-02-09 2012-02-09 ENSG00000176903 ENSG00000176903 9240 Paraneoplastic Ma antigens 9158 protein-coding gene gene with protein product 604010 paraneoplastic antigen MA1 NA 10050892 Standard NM_006029 NM_006029 NA Approved MA1 uc001xor.1 Q8ND90 OTTHUMG00000169183 ENST00000316836.3:c.*552C>A chr14.hg19:g.74178729G>T NA A8K4L5|O95144|Q8NG07 hg19 CCDS9818.1 0.02 9.563632 ACTxGTC COVERED NOVEL PNMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402774.1 5 28.581 KEEP 0 1 28 105 3706 GG 1 1 0 - 9 60 304 0 0 17.256566 285 60 10583 501 ENST00000316836.3 0.030612 1 ABCD4 5826 __UNKNOWN__ __UNKNOWN__ 14 74752902 74752902 __UNKNOWN__ 3'UTR SNP A A C rs2466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:74752902A>C ENST00000356924.4 - 0 2226 NM_005050.3 NP_005041.1 O14678 ABCD4_HUMAN ATP-binding cassette, sub-family D (ALD), member 4 NA NA cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085) ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626) cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00153) ATTTGTAGGTAATCAGCACTT 0.453 NA A||| 1326 0.264776 0.3253 0.1354 5008 , , NA 17312 0.5079 NA 0.1064 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF009746 CCDS9828.1 14q24 2012-03-14 ENSG00000119688 ENSG00000119688 5826 ATP binding cassette transporters / subfamily D 68 protein-coding gene gene with protein product 603214 PXMP1L NA 9266848, 9302272 Standard NM_005050 NR_003256 NA Approved PMP69, P70R, EST352188 uc001xpr.2 O14678 OTTHUMG00000171207 ENST00000356924.4:c.*262T>G chr14.hg19:g.74752902A>C NA A8K5L7|Q6IAQ0|Q96E75 hg19 CCDS9828.1 0.02 6.918893 GGTxATC COVERED NOVEL ABCD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314382.1 2 10.53043 KEEP 0 0 0 35 1063 AA 0.999999 0.999999 0 - 8 60 293 0 0 18.999691 168 60 5998 263 ENST00000356924.4 0.045455 1 LTBP2 4053 __UNKNOWN__ __UNKNOWN__ 14 74965769 74965769 __UNKNOWN__ 3'UTR SNP G G A rs1052939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:74965769G>A ENST00000261978.4 - 0 7670 NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 NA NA protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) gaaggacattgccatattgtc 0.358 NA G||| 1564 0.3123 0.2632 0.268 5008 , , NA 19322 0.5804 NA 0.2306 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9831.1 14q24.3 2011-10-20 2001-12-04 ENSG00000119681 4053 Latent transforming growth factor, beta binding proteins 6715 protein-coding gene gene with protein product 602091 chromosome 14 open reading frame 141 LTBP3, C14orf141 NA 7798248 Standard NM_000428 NM_000428 NA Approved uc001xqa.3 Q14767 ENST00000261978.4:c.*1818C>T chr14.hg19:g.74965769G>A NA Q99907|Q9NS51 hg19 CCDS9831.1 0.02 7.988024 ATTxCCA COVERED NOVEL LTBP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413595.1 3 18.059094 KEEP 0 0 0 60 2153 GG 1 1 0 - 12 60 417 0 0 27.116613 212 60 7985 336 ENST00000261978.4 0.053571 1 LTBP2 4053 __UNKNOWN__ __UNKNOWN__ 14 74991855 74991855 __UNKNOWN__ Silent SNP A A G rs862031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:74991855A>G ENST00000556690.1 - 15 2629 c.2502T>C c.(2500-2502)acT>acC p.T834T LTBP2_ENST00000261978.4_Silent_p.T834T Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 834 NA protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCAGCACATCAGTGGAGGGGG 0.597 NA G||| 3647 0.728235 0.8298 0.6744 5008 , , NA 19763 0.7361 NA 0.6471 False NA ,,, NA NA NA 2504 0.7045 NA NA NA NA 0 G 3572,834 331.0+/-301.8 1442,688,73 218 178 191 2502 -7.4 0 14 dbSNP_86 191 5712,2888 452.3+/-362.9 1900,1912,488 no coding-synonymous LTBP2 NM_000428.2 3342,2600,561 GG,GA,AA 33.5814,18.9287,28.6176 834/1822 74991855 9284,3722 2203 4300 6503 SO:0001819 synonymous_variant CCDS9831.1 14q24.3 2011-10-20 2001-12-04 ENSG00000119681 4053 Latent transforming growth factor, beta binding proteins 6715 protein-coding gene gene with protein product 602091 chromosome 14 open reading frame 141 LTBP3, C14orf141 NA 7798248 Standard NM_000428 NM_000428 NA Approved uc001xqa.3 Q14767 ENST00000556690.1:c.2502T>C chr14.hg19:g.74991855A>G NA Q99907|Q9NS51 hg19 0.02 9.428606 ATCxGTG COVERED NOVEL LTBP2-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000413598.1 0 12.004257 KEEP 0 2 63 62 1934 AA 1 1 0 - 15 60 512 0 0 34.326637 226 60 8438 379 ENST00000556690.1 0.062241 1 LTBP2 4053 __UNKNOWN__ __UNKNOWN__ 14 74999108 74999108 __UNKNOWN__ Intron SNP C C T rs862025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:74999108C>T ENST00000556690.1 - 10 2115 LTBP2_ENST00000261978.4_Intron Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 NA NA protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|heparin binding (GO:0008201) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CCACCCCCACCCCATCCCTGC 0.617 NA C||| 1803 0.360024 0.5371 0.3646 5008 , , NA 17246 0.3542 NA 0.2217 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 C 2097,2309 572.5+/-383.3 495,1107,601 93 72 79 3.8 0 14 dbSNP_86 79 1920,6680 340.1+/-323.5 209,1502,2589 no intron LTBP2 NM_000428.2 704,2609,3190 TT,TC,CC 22.3256,47.5942,30.8857 74999108 4017,8989 2203 4300 6503 SO:0001627 intron_variant CCDS9831.1 14q24.3 2011-10-20 2001-12-04 ENSG00000119681 4053 Latent transforming growth factor, beta binding proteins 6715 protein-coding gene gene with protein product 602091 chromosome 14 open reading frame 141 LTBP3, C14orf141 NA 7798248 Standard NM_000428 NM_000428 NA Approved uc001xqa.3 Q14767 ENST00000556690.1:c.1987+20G>A chr14.hg19:g.74999108C>T NA Q99907|Q9NS51 hg19 0.02 2.274069 CACxCCA COVERED NOVEL LTBP2-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000413598.1 2 4.81551 KEEP 0 0 0 16 556 CC 0.997832 0.994563 0 - 4 60 158 0 0 11.053031 66 60 2346 98 ENST00000556690.1 0.057143 0.996724 RPS6KL1 83694 __UNKNOWN__ __UNKNOWN__ 14 75388183 75388183 __UNKNOWN__ Missense_Mutation SNP C C T rs7156590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:75388183C>T ENST00000555647.1 - 3 349 c.62G>A c.(61-63)cGa>cAa p.R21Q RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R21Q|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R21Q|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R21Q Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 21 NA R -> Q (in dbSNP:rs7156590). {ECO:0000269|PubMed:17344846}. ribosome (GO:0005840) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GGACCGTGCTCGTGAGCAAGG 0.622 NA C||| 1762 0.351837 0.1846 0.4135 5008 , , NA 16733 0.5903 NA 0.3777 False NA ,,, NA NA NA 2504 0.2618 NA NA NA NA 0 C GLN/ARG 953,3453 361.4+/-315.7 94,765,1344 76 73 74 62 2.6 0 14 dbSNP_116 74 3228,5372 486.6+/-371.9 607,2014,1679 yes missense RPS6KL1 NM_031464.4 43 701,2779,3023 TT,TC,CC 37.5349,21.6296,32.1467 probably-damaging 21/550 75388183 4181,8825 2203 4300 6503 SO:0001583 missense BC004540 CCDS9834.1, CCDS9834.2 14q24.2 2011-04-05 ENSG00000198208 83694 20222 protein-coding gene gene with protein product NA Standard NM_031464 NA Approved MGC11287 uc010tux.2 Q9Y6S9 ENST00000555647.1:c.62G>A chr14.hg19:g.75388183C>T ENSP00000452027:p.Arg21Gln NA A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9 hg19 CCDS9834.2 0.02 18.059363 GCTxGTG COVERED 828 0.3791208791208791 92 0.18699186991869918 146 0.40331491712707185 314 0.548951048951049 276 0.3641160949868074 C 12.83 2.055236 0.36277 0.216296 0.375349 ENSG00000198208 ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328 T;T;T;T 0.60548 0.26;0.18;0.26;0.26 4.4 2.56 0.30785 . 0.156452 0.28510 N 0.015085 T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 P;B;P 0.38300 0.462;0.41;0.626 B;B;B 0.24541 0.054;0.031;0.05 T 0.48937 -0.8990 9 0.42905 T 0.14 -6.2096 8.0461 0.30551 0.0:0.8043:0.0:0.1957 rs7156590;rs7156590 21;21;21 Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2 RPKL1_HUMAN;.;. Q 21 ENSP00000452027:R21Q;ENSP00000346644:R21Q;ENSP00000450567:R21Q;ENSP00000351086:R21Q ENSP00000346644:R21Q R - 2 0 RPS6KL1 74457936 0.039000 0.19947 0.003000 0.11579 0.567000 0.35839 1.323000 0.33701 0.426000 0.26116 0.561000 0.74099 CGA NOVEL RPS6KL1-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413732.1 1 23.541546 KEEP 0 2 62 100 3337 CC 1 1 0 - 22 60 780 0 0 51.471709 382 60 13430 614 ENST00000555647.1 0.054455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 75408500 75408500 __UNKNOWN__ IGR SNP G G A rs2268613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:75408500G>A NA NA RPS6KL1 (18401 upstream) : PGF (36 downstream) NA NA NA CCCGGCTGACGCTCACTGCCC 0.547 NA G||| 3340 0.666933 0.3888 0.7205 5008 , , NA 18354 0.8611 NA 0.8091 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.75408500G>A NA hg19 0.02 2.212108 GACxCTC COVERED NOVEL 0 1 3.545509 KEEP 0 1 32 23 754 GG 0.999909 0.998902 0 6 60 225 0 0 16.213674 71 60 2228 116 0.077922 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 75657351 75657351 __UNKNOWN__ IGR SNP A A G rs6574208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:75657351A>G NA NA TMED10 (14017 upstream) : RNU4ATAC14P (11432 downstream) NA NA NA aaaaaaTgccaggcgcggtgg 0.512 NA G||| 2568 0.51278 0.8449 0.3948 5008 , , NA 13362 0.1657 NA 0.495 False NA ,,, NA NA NA 2504 0.5235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.75657351A>G NA hg19 0.02 -0.026319 GCCxGGC UNCOVERED NOVEL 0 3 2.404498 KEEP 0 0 0 8 238 AA 0.99257 0 0 2 60 68 0 0 6.924679 1 60 39 12 0.666667 0 RP11-293M10.1 0 __UNKNOWN__ __UNKNOWN__ 14 75735859 75735859 __UNKNOWN__ Intron SNP G G A rs4903300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:75735859G>A ENST00000553510.1 - 1 104 RP11-293M10.2_ENST00000555106.1_RNA|RP11-293M10.2_ENST00000555909.1_RNA NA NA NA AGTACTAGTAGCAAAGGAACT 0.453 NA G||| 3259 0.650759 0.7549 0.6182 5008 , , NA 18162 0.5734 NA 0.7117 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000553510.1:c.90+23C>T chr14.hg19:g.75735859G>A NA hg19 0.02 12.720852 GTAxCAA COVERED NOVEL RP11-293M10.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000415041.1 4 48.755683 KEEP 0 0 0 162 5854 GG 1 1 0 - 17 60 611 0 0 40.368851 303 60 11536 601 ENST00000553510.1 0.053125 1 FOS 2353 __UNKNOWN__ __UNKNOWN__ 14 75747258 75747258 __UNKNOWN__ Intron SNP T T C rs4645856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:75747258T>C ENST00000303562.4 + 3 602 FOS_ENST00000555347.1_5'UTR|FOS_ENST00000555686.1_Intron|FOS_ENST00000555242.1_Intron|FOS_ENST00000535987.1_Intron NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog NA NA aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) Nadroparin(DB08813)|Pseudoephedrine(DB00852) TTGTGATTATTCTAGTTATCT 0.488 NA T||| 588 0.117412 0.152 0.0648 5008 , , NA 18294 0.2123 NA 0.0616 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 T 749,3657 281.9+/-276.2 68,613,1522 37 42 40 1.5 0 14 dbSNP_111 40 544,8056 143.9+/-199.8 23,498,3779 no intron FOS NM_005252.3 91,1111,5301 CC,CT,TT 6.3256,16.9995,9.9416 75747258 1293,11713 2203 4300 6503 SO:0001627 intron_variant K00650 CCDS9841.1 14q24.3 2013-01-10 2009-07-23 ENSG00000170345 2353 basic leucine zipper proteins 3796 protein-coding gene gene with protein product 164810 v-fos FBJ murine osteosarcoma viral oncogene homolog NA 16123044, 16055710, 15926923 Standard NM_005252 NM_005252 NA Approved c-fos, AP-1 uc001xrn.3 P01100 ENST00000303562.4:c.394-5T>C chr14.hg19:g.75747258T>C NA A8K4E2|B4DQ65|P18849 hg19 CCDS9841.1 0.02 18.012878 TATxCTA COVERED NOVEL FOS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415044.1 3 82.704252 KEEP 0 0 0 275 8335 TT 1 1 0 + 11 60 421 0 0 25.119945 420 60 15076 884 ENST00000303562.4 0.025522 1 FLVCR2 55640 __UNKNOWN__ __UNKNOWN__ 14 76072028 76072028 __UNKNOWN__ Intron SNP T T C rs4903337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:76072028T>C ENST00000539311.1 + 1 163 FLVCR2_ENST00000238667.4_Intron NM_001195283.1 NP_001182212.1 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 NA NA heme transport (GO:0015886)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) heme binding (GO:0020037)|heme transporter activity (GO:0015232) endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) TCCGGAGCCTTAGGAGGGAGG 0.502 NA C||| 2911 0.58127 0.9478 0.4424 5008 , , NA 20652 0.6806 NA 0.1899 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000378 CCDS9844.1, CCDS55933.1 14q24.3 2013-05-22 2007-05-01 2007-05-01 ENSG00000119686 ENSG00000119686 55640 Solute carriers 20105 protein-coding gene gene with protein product 610865 chromosome 14 open reading frame 58, feline leukemia virus subgroup C cellular receptor 2 C14orf58 NA 16439531, 20206334 Standard NM_017791 NM_017791 NA Approved FLJ20371, MFSD7C uc001xrs.2 Q9UPI3 OTTHUMG00000171487 ENST00000539311.1:c.54+61T>C chr14.hg19:g.76072028T>C NA B7Z485|Q53ZT9|Q96JY3|Q9NX90 hg19 CCDS55933.1 0.02 4.32102 CCTxAGG COVERED NOVEL FLVCR2-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000413674.1 2 3.610492 KEEP 0 0 0 12 366 TT 0.993634 0.993634 0 + 7 60 272 0 0 18.407315 136 60 4788 165 ENST00000539311.1 0.048951 1 C14orf166B 0 __UNKNOWN__ __UNKNOWN__ 14 77311277 77311277 __UNKNOWN__ Intron SNP G G A rs117436373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:77311277G>A ENST00000393774.3 + 7 851 C14orf166B_ENST00000450042.2_Intron NM_194287.2 NP_919263.2 NA NA breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) ACAGCAAAGGGGAGGGATAGG 0.453 NA G||| 17 0.00339457 0.0 0.0 5008 , , NA 19522 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Ovarian(165;1056 1958 32571 36789 48728) NA 0 29 29 29 NA NA 14 NA 77311277 2202 4300 6502 SO:0001627 intron_variant NA NA NA NA ENST00000393774.3:c.727+33G>A chr14.hg19:g.77311277G>A NA hg19 CCDS9853.2 0.02 4.086146 AGGxGAG COVERED NOVEL C14orf166B-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316592.1 1 8.426961 KEEP 0 0 0 28 960 GG 0.999997 0.999997 0 + 6 60 225 0 0 14.479657 141 60 5121 206 ENST00000393774.3 0.040816 1 IRF2BPL 64207 __UNKNOWN__ __UNKNOWN__ 14 77492891 77492891 __UNKNOWN__ Silent SNP G G A rs879027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:77492891G>A ENST00000238647.3 - 1 2143 c.1245C>T c.(1243-1245)taC>taT p.Y415Y NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 415 NA development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) extracellular space (GO:0005615)|nucleus (GO:0005634) metal ion binding (GO:0046872) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GCTTCAATTCGTAGTCCATGC 0.587 NA G||| 1913 0.381989 0.0946 0.379 5008 , , NA 14028 0.5238 NA 0.5497 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 G 856,3550 331.2+/-301.9 90,676,1437 48 40 43 1245 2 1 14 dbSNP_86 43 4616,3984 595.6+/-393.5 1243,2130,927 no coding-synonymous IRF2BPL NM_024496.2 1333,2806,2364 AA,AG,GG 46.3256,19.4281,42.0729 415/797 77492891 5472,7534 2203 4300 6503 SO:0001819 synonymous_variant AJ277365 CCDS9854.1 14q24.3 2011-02-23 2011-02-23 2011-02-23 ENSG00000119669 ENSG00000119669 64207 14282 protein-coding gene gene with protein product enhanced at puberty 1 611720 chromosome 14 open reading frame 4 C14orf4 NA 11095982, 17627301 Standard NM_024496 NM_024496 NA Approved EAP1, KIAA1865 uc001xsy.4 Q9H1B7 ENST00000238647.3:c.1245C>T chr14.hg19:g.77492891G>A NA Q8NDQ2|Q96JG2|Q9H3I7 hg19 CCDS9854.1 0.02 26.947785 TTCxTAG COVERED NOVEL IRF2BPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414298.1 2 109.086205 KEEP 0 7 221 440 15076 GG 1 1 0 - 23 60 857 0 0 54.254157 581 60 20596 1297 ENST00000238647.3 0.038079 1 IRF2BPL 64207 __UNKNOWN__ __UNKNOWN__ 14 77494682 77494682 __UNKNOWN__ 5'UTR SNP G G A rs12897921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:77494682G>A ENST00000238647.3 - 0 352 NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like NA NA development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) extracellular space (GO:0005615)|nucleus (GO:0005634) metal ion binding (GO:0046872) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 CTTCCCCGGAGGACCGGGGGA 0.726 NA G||| 1914 0.382188 0.0953 0.379 5008 , , NA 10653 0.5238 NA 0.5497 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ277365 CCDS9854.1 14q24.3 2011-02-23 2011-02-23 2011-02-23 ENSG00000119669 ENSG00000119669 64207 14282 protein-coding gene gene with protein product enhanced at puberty 1 611720 chromosome 14 open reading frame 4 C14orf4 NA 11095982, 17627301 Standard NM_024496 NM_024496 NA Approved EAP1, KIAA1865 uc001xsy.4 Q9H1B7 ENST00000238647.3:c.-547C>T chr14.hg19:g.77494682G>A NA Q8NDQ2|Q96JG2|Q9H3I7 hg19 CCDS9854.1 0.02 14.699921 GGAxGAC COVERED NOVEL IRF2BPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414298.1 5 97.895505 KEEP 0 8 256 415 14717 GG 1 1 0 - 12 60 441 1 0 26.904129 354 60 12931 1030 ENST00000238647.3 0.032787 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 77501686 77501686 __UNKNOWN__ IGR SNP A A G rs7149694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:77501686A>G NA NA IRF2BPL (6652 upstream) : RP11-7F17.5 (5720 downstream) NA NA NA cagtggtacgatctctcacct 0.463 NA A||| 2336 0.466454 0.0794 0.5389 5008 , , NA 19684 0.6101 NA 0.6093 False NA ,,, NA NA NA 2504 0.6431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.77501686A>G NA hg19 0.02 -0.086998 ACGxTCT UNCOVERED NOVEL 0 2 2.407356 KEEP 0 0 0 8 252 AA 0.99257 0.09898 0 2 60 78 0 0 6.590047 8 60 269 22 0.2 0.099721 KIAA1737 0 __UNKNOWN__ __UNKNOWN__ 14 77583420 77583420 __UNKNOWN__ 3'UTR SNP A A G rs146927138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:77583420A>G ENST00000361786.2 + 0 4276 RP11-463C8.4_ENST00000557752.1_Intron NM_033426.2 NP_219494.2 Q9C0C6 CIPC_HUMAN NA NA negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) endometrium(2)|lung(4)|prostate(3) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) GTTTTTATTGATTATAGTATT 0.274 NA A||| 8 0.00159744 0.0 0.0 5008 , , NA 17936 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000361786.2:c.*2759A>G chr14.hg19:g.77583420A>G NA B2RCI1|Q8N389|Q8NDZ1 hg19 CCDS9855.1 0.02 8.50482 TTGxTTA COVERED NOVEL KIAA1737-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414278.1 1 11.700111 KEEP 0 0 0 39 1214 AA 1 1 0 + 7 60 253 1 0 15.149624 215 60 7857 296 ENST00000361786.2 0.031532 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 78710044 78710044 __UNKNOWN__ IGR SNP G G A rs11626446 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:78710044G>A NA NA RNA5SP388 (65780 upstream) : RP11-332E19.2 (35870 downstream) NA NA NA GGACCCTGTGGTGAGCGTCCC 0.582 NA G||| 1001 0.19988 0.0938 0.1643 5008 , , NA 19064 0.2292 NA 0.2883 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 G 197,1555 8,181,687 90 86 87 3.1 0 14 dbSNP_120 87 1075,2907 148,779,1064 no intergenic 156,960,1751 AA,AG,GG 26.9965,11.2443,22.1835 78710044 1272,4462 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.78710044G>A NA hg19 0.02 12.431195 GTGxTGA COVERED 485 0.22206959706959706 46 0.09349593495934959 74 0.20441988950276244 131 0.229020979020979 234 0.3087071240105541 G 12.23 1.874813 0.33069 0.112443 0.269965 ENSG00000021645 ENST00000330071;ENST00000332068 . . . 6.16 3.14 0.36123 . . . . . T 0.00012 0.0000 . . . 0.24323 P 0.9950343 . . . . . . T 0.26643 -1.0097 3 . . . . 10.7098 0.45977 0.0802:0.2946:0.6252:0.0 rs11626446;rs57440596;rs11626446 . . . D 203 . . G + 2 0 NRXN3 77779797 0.024000 0.19004 0.042000 0.18584 0.955000 0.61496 2.594000 0.46189 1.626000 0.50381 0.650000 0.86243 GGT NOVEL 0 0 7.223329 KEEP 0 0 0 24 837 GG 0.999909 0.999909 0 12 60 419 0 0 25.45035 307 60 11201 404 0.037618 1 NRXN3 9369 __UNKNOWN__ __UNKNOWN__ 14 79081400 79081400 __UNKNOWN__ Intron SNP T T C rs57416351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:79081400T>C ENST00000554719.1 + 2 129 NRXN3_ENST00000335750.5_Intron NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 NA NA adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CGTATTTCCATGGTTAGATTA 0.443 NA C||| 745 0.148762 0.2632 0.0692 5008 , , NA 19257 0.1845 NA 0.0974 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018286 CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1 14q31 2010-01-19 ENSG00000021645 9369 8010 protein-coding gene gene with protein product 600567 chromosome 14 open reading frame 60 C14orf60 NA 11944992, 12379233 Standard NM_001105250 NM_004796 NA Approved KIAA0743 uc001xun.4 Q9HDB5 ENST00000554719.1:c.-362-30063T>C chr14.hg19:g.79081400T>C NA A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8 hg19 CCDS9870.1 0.02 13.636584 CCAxGGT COVERED NOVEL NRXN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413787.1 1 8.122141 KEEP 0 0 0 27 814 TT 0.999988 0.999988 0 + 20 60 701 0 0 47.225527 298 60 11062 413 ENST00000554719.1 0.062893 1 NRXN3 9369 __UNKNOWN__ __UNKNOWN__ 14 80048486 80048486 __UNKNOWN__ Intron SNP A A G rs78080435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:80048486A>G ENST00000554719.1 + 14 2816 NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000428277.2_Intron NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 NA NA adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625) integral component of membrane (GO:0016021) cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) aagtcttgctatgttgcacag 0.483 NA A||| 388 0.077476 0.0 0.0231 5008 , , NA 16709 0.2381 NA 0.0179 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018286 CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1 14q31 2010-01-19 ENSG00000021645 9369 8010 protein-coding gene gene with protein product 600567 chromosome 14 open reading frame 60 C14orf60 NA 11944992, 12379233 Standard NM_001105250 NM_004796 NA Approved KIAA0743 uc001xun.4 Q9HDB5 ENST00000554719.1:c.2326-81635A>G chr14.hg19:g.80048486A>G NA A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8 hg19 CCDS9870.1 0.02 -0.08773 GCTxTGT UNCOVERED NOVEL NRXN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413787.1 1 2.407255 KEEP 0 0 0 8 248 AA 0.99257 0.09898 0 + 2 60 78 0 0 6.581161 8 60 288 24 ENST00000554719.1 0.2 0.099721 CEP128 145508 __UNKNOWN__ __UNKNOWN__ 14 81025522 81025522 __UNKNOWN__ Intron SNP C C A rs1530771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:81025522C>A ENST00000555265.1 - 21 3256 CEP128_ENST00000281129.3_Intron Q6ZU80 CE128_HUMAN centrosomal protein 128kDa NA NA centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 ATGTAGTTTTCGAAATGATTT 0.323 NA A||| 3091 0.617212 0.6778 0.4914 5008 , , NA 15003 0.7173 NA 0.5308 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK056756 CCDS32130.1 14q31.1 2014-02-20 2011-05-06 2011-05-06 ENSG00000100629 ENSG00000100629 145508 20359 protein-coding gene gene with protein product chromosome 14 open reading frame 61, chromosome 14 open reading frame 145 C14orf61, C14orf145 NA 21399614 Standard NM_152446 NM_152446 NA Approved uc001xux.2 Q6ZU80 ENST00000555265.1:c.2880+100G>T chr14.hg19:g.81025522C>A NA B9EK52|Q86X97|Q96ML4 hg19 CCDS32130.1 0.02 3.540193 TTTxGAA COVERED NOVEL CEP128-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413415.1 0 2.443114 KEEP 0 1 34 20 665 CC 0.999869 0.999869 0 - 7 60 237 0 0 14.95561 134 70 4972 185 ENST00000555265.1 0.049645 1 TSHR 7253 __UNKNOWN__ __UNKNOWN__ 14 81451956 81451956 __UNKNOWN__ Intron SNP G G A rs8003061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:81451956G>A ENST00000541158.2 + 2 492 TSHR_ENST00000554263.1_Intron|TSHR_ENST00000298171.2_Intron|TSHR_ENST00000342443.6_Intron|TSHR_ENST00000554435.1_Intron P16473 TSHR_HUMAN thyroid stimulating hormone receptor NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) thyroid-stimulating hormone receptor activity (GO:0004996) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GGTGGGAATTGTAATCCCTAG 0.398 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism A||| 2079 0.415136 0.3964 0.4827 5008 , , NA 18428 0.5843 NA 0.327 False NA ,,, NA NA NA 2504 0.3088 NA NA NA yes Dom yes 14 14q31 7253 thyroid stimulating hormone receptor yes E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY429111 CCDS9872.1, CCDS32131.1, CCDS55935.1 14q24-q31 2014-09-17 ENSG00000165409 ENSG00000165409 7253 GPCR / Class A : Gonadotropin and TSH receptors 12373 protein-coding gene gene with protein product 603372 NA 2558651, 2610690 Standard NM_000369 NM_001018036 NA Approved LGR3 uc001xvd.1 P16473 ENST00000541158.2:c.170+29762G>A chr14.hg19:g.81451956G>A NA A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3 hg19 CCDS9872.1 0.02 2.199774 ATTxTAA COVERED NOVEL TSHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413364.1 0 3.912699 KEEP 0 0 0 13 455 GG 0.994391 0.990101 0 + 5 60 180 0 0 12.663828 62 60 2367 99 ENST00000541158.2 0.074627 0.995687 TSHR 7253 __UNKNOWN__ __UNKNOWN__ 14 81610869 81610869 __UNKNOWN__ 3'UTR SNP C C A rs2268477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:81610869C>A ENST00000541158.2 + 0 2789 TSHR_ENST00000298171.2_3'UTR|RP11-114N19.3_ENST00000557775.1_RNA P16473 TSHR_HUMAN thyroid stimulating hormone receptor NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) thyroid-stimulating hormone receptor activity (GO:0004996) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TTAGTATTAACCTAATCATTG 0.428 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism C||| 1218 0.243211 0.3805 0.0821 5008 , , NA 18619 0.3313 NA 0.0785 False NA ,,, NA NA NA 2504 0.2505 NA NA NA yes Dom yes 14 14q31 7253 thyroid stimulating hormone receptor yes E 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY429111 CCDS9872.1, CCDS32131.1, CCDS55935.1 14q24-q31 2014-09-17 ENSG00000165409 ENSG00000165409 7253 GPCR / Class A : Gonadotropin and TSH receptors 12373 protein-coding gene gene with protein product 603372 NA 2558651, 2610690 Standard NM_000369 NM_001018036 NA Approved LGR3 uc001xvd.1 P16473 ENST00000541158.2:c.*172C>A chr14.hg19:g.81610869C>A NA A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3 hg19 CCDS9872.1 0.02 8.168959 TAAxCTA COVERED NOVEL TSHR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413364.1 1 11.43676 KEEP 0 0 0 38 1326 CC 1 1 0 + 7 60 257 0 0 15.207218 241 60 8902 333 ENST00000541158.2 0.028226 1 GALC 2581 __UNKNOWN__ __UNKNOWN__ 14 88459187 88459187 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:88459187C>G ENST00000261304.2 - 1 302 GALC_ENST00000393569.2_Intron|GALC_ENST00000393568.4_Intron NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase NA NA carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764) galactosylceramidase activity (GO:0004336) endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTGACTGGCACCCTAGGGGAA 0.687 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L23116 CCDS9878.2, CCDS55936.1, CCDS55937.1 14q31 2009-01-06 2005-11-29 ENSG00000054983 ENSG00000054983 2581 3.2.1.46 4115 protein-coding gene gene with protein product Krabbe disease 606890 galactosylceramidase (Krabbe disease) NA Standard NM_000153 NA Approved uc001xvt.3 P54803 OTTHUMG00000028646 ENST00000261304.2:c.195+126G>C chr14.hg19:g.88459187C>G NA B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030 hg19 CCDS9878.2 0.02 6.608568 GCAxCCT COVERED NOVEL GALC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000071559.2 3 55.077335 KEEP 0 0 0 183 6466 CC 1 1 0 - 6 60 225 0 0 13.814422 183 60 6730 493 ENST00000261304.2 0.031746 1 FOXN3 1112 __UNKNOWN__ __UNKNOWN__ 14 89878865 89878865 __UNKNOWN__ Intron SNP C C T rs3742676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:89878865C>T ENST00000345097.4 - 2 103 FOXN3_ENST00000557258.1_Intron|FOXN3_ENST00000555353.1_Intron|RP11-33N16.3_ENST00000555070.1_RNA NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 NA NA mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AAATGATGAGCTGGCGAGGCC 0.517 NA C||| 1000 0.199681 0.267 0.0965 5008 , , NA 18194 0.3056 NA 0.1123 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C , 896,3442 87,722,1360 24 23 24 , -6.4 0 14 dbSNP_107 24 1055,7469 62,931,3269 no intron,intron FOXN3 NM_001085471.1,NM_005197.3 , 149,1653,4629 TT,TC,CC 12.3768,20.6547,15.1687 , , 89878865 1951,10911 2169 4262 6431 SO:0001627 intron_variant CCDS32138.1, CCDS41977.1 14q32.11 2012-04-17 2007-05-02 2007-05-02 ENSG00000053254 ENSG00000053254 1112 Forkhead boxes 1928 protein-coding gene gene with protein product 602628 chromosome 14 open reading frame 116, checkpoint suppressor 1 C14orf116, CHES1 NA 9154802 Standard NM_005197 NM_005197 NA Approved uc001xxo.4 O00409 OTTHUMG00000170898 ENST00000345097.4:c.14-31G>A chr14.hg19:g.89878865C>T NA Q96II7|Q9UIE7 hg19 CCDS41977.1 0.02 15.747921 GAGxTGG COVERED NOVEL FOXN3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410902.2 4 40.801762 KEEP 0 2 58 156 5674 CC 1 1 0 - 12 60 415 0 0 23.77752 393 60 14819 733 ENST00000345097.4 0.02963 1 RP11-33N16.3 0 __UNKNOWN__ __UNKNOWN__ 14 90204548 90204548 __UNKNOWN__ RNA SNP A A G rs10484019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:90204548A>G ENST00000555070.1 - 0 170 NA NA NA AAGCATCGTGAAAGACTGGAA 0.458 NA A||| 869 0.173522 0.0915 0.1182 5008 , , NA 20156 0.4147 NA 0.1183 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000555070.1: chr14.hg19:g.90204548A>G NA hg19 0.02 7.242606 GTGxAAG COVERED NOVEL RP11-33N16.3-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000411023.1 2 9.630291 KEEP 0 0 0 32 1059 AA 0.999997 0.999997 0 - 8 60 315 0 0 20.804835 188 60 6794 293 ENST00000555070.1 0.040816 1 EFCAB11 90141 __UNKNOWN__ __UNKNOWN__ 14 90359891 90359891 __UNKNOWN__ Intron SNP C C T rs144155001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:90359891C>T ENST00000316738.7 - 5 439 EFCAB11_ENST00000267544.9_Intron|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000550103.2_Intron|EFCAB11_ENST00000555872.1_Intron|EFCAB11_ENST00000556609.1_Intron NM_001284267.1|NM_145231.3 NP_001271196.1|NP_660274.1 Q9BUY7 EFC11_HUMAN EF-hand calcium binding domain 11 NA NA calcium ion binding (GO:0005509) large_intestine(1)|lung(1) 2 cagggcagcccgtatccaaag 0.572 NA C||| 246 0.0491214 0.0045 0.0836 5008 , , NA 17962 0.0238 NA 0.0437 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094740 CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1 14q32.11 2013-01-10 2011-01-31 2011-01-31 ENSG00000140025 ENSG00000140025 90141 EF-hand domain containing 20357 protein-coding gene gene with protein product chromosome 14 open reading frame 143 C14orf143 NA Standard NM_145231 NM_145231 NA Approved uc001xxt.3 Q9BUY7 OTTHUMG00000148671 ENST00000316738.7:c.410+37993G>A chr14.hg19:g.90359891C>T NA B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1 hg19 CCDS9887.1 0.02 4.520762 GCCxGTA COVERED NOVEL EFCAB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309022.2 1 5.718402 KEEP 0 0 0 19 657 CC 0.99986 0.99986 0 - 10 60 381 0 0 27.134861 133 60 4756 192 ENST00000316738.7 0.06993 1 NRDE2 55051 __UNKNOWN__ __UNKNOWN__ 14 90745422 90745422 __UNKNOWN__ Missense_Mutation SNP T T C rs3737035 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:90745422T>C ENST00000354366.3 - 13 3585 c.3353A>G c.(3352-3354)aAt>aGt p.N1118S NRDE2_ENST00000357904.3_Missense_Mutation_p.N887S NM_017970.3 NP_060440.2 Q9H7Z3 NRDE2_HUMAN NRDE-2, necessary for RNA interference, domain containing 1118 NA N -> S (in dbSNP:rs3737035). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. NA CCAAGGGCAATTCTGAAGTGC 0.473 NA T||| 1624 0.324281 0.0825 0.3012 5008 , , NA 22906 0.5099 NA 0.3946 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 T SER/ASN,SER/ASN 636,3770 274.3+/-271.8 46,544,1613 247 228 235 3353,2660 -3 0 14 dbSNP_107 235 3432,5168 506.3+/-376.6 679,2074,1547 yes missense,missense C14orf102 NM_017970.3,NM_199043.1 46,46 725,2618,3160 CC,CT,TT 39.907,14.4349,31.2779 benign,benign 1118/1165,887/934 90745422 4068,8938 2203 4300 6503 SO:0001583 missense AK000870 CCDS9890.1 14q32.11 2012-12-14 2012-09-25 2012-09-25 ENSG00000119720 ENSG00000119720 55051 20186 protein-coding gene gene with protein product chromosome 14 open reading frame 102 C14orf102 NA Standard NM_017970 NM_017970 NA Approved FLJ14051 uc001xyi.2 Q9H7Z3 OTTHUMG00000171020 ENST00000354366.3:c.3353A>G chr14.hg19:g.90745422T>C ENSP00000346335:p.Asn1118Ser NA B4DH71|Q4G0A7|Q9NWH6 hg19 CCDS9890.1 0.02 13.778089 CAAxTCT COVERED 765 0.35027472527472525 46 0.09349593495934959 118 0.3259668508287293 292 0.5104895104895105 309 0.4076517150395778 T 0.014 -1.577019 0.00887 0.144349 0.39907 ENSG00000119720 ENST00000354366;ENST00000357904 T;T 0.24723 1.84;1.84 5.04 -3.03 0.05429 . 0.354677 0.30762 N 0.008933 T 0.00012 0.0000 N 0.05031 -0.125 0.51482 P 7.699999999999374E-5 B;B 0.11235 0.001;0.004 B;B 0.09377 0.001;0.004 T 0.38929 -0.9638 9 0.07644 T 0.81 -7.8744 6.781 0.23646 0.1283:0.4457:0.0:0.4259 rs3737035;rs17188668;rs58956807;rs3737035 887;1118 E9PBK4;Q9H7Z3 .;CN102_HUMAN S 1118;887 ENSP00000346335:N1118S;ENSP00000350579:N887S ENSP00000346335:N1118S N - 2 0 C14orf102 89815175 1.000000 0.71417 0.034000 0.17996 0.013000 0.08279 1.427000 0.34881 -0.493000 0.06678 -0.379000 0.06801 AAT NOVEL NRDE2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411264.1 1 14.278794 KEEP 0 1 36 60 1903 TT 1 1 0 - 13 60 498 0 0 32.113952 323 60 11843 492 ENST00000354366.3 0.03869 1 CALM1 801 __UNKNOWN__ __UNKNOWN__ 14 90872743 90872743 __UNKNOWN__ 3'UTR SNP A A G rs141870617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:90872743A>G ENST00000356978.4 + 0 2380 NM_006888.4 NP_008819.1 P62158 CALM_HUMAN calmodulin 1 (phosphorylase kinase, delta) NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 10 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831) TGCATTTTTCACGGTGTTAAC 0.428 NA A||| 18 0.00359425 0.0 0.0 5008 , , NA 19837 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9892.1 14q32.11 2013-02-25 ENSG00000198668 ENSG00000198668 801 2.7.11.19 EF-hand domain containing, Endogenous ligands 1442 protein-coding gene gene with protein product prepro-calmodulin 1 114180 CALML2 NA 6385987 Standard NM_006888 NA Approved CAMI, PHKD, DD132 uc001xyl.2 P62158 OTTHUMG00000171044 ENST00000356978.4:c.*1682A>G chr14.hg19:g.90872743A>G NA P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3 hg19 CCDS9892.1 0.02 6.385187 TTCxCGG COVERED NOVEL CALM1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000411346.1 2 16.547815 KEEP 0 0 0 55 1682 AA 1 1 0 + 14 60 441 0 0 29.477346 166 60 5920 284 ENST00000356978.4 0.077778 1 CALM1 801 __UNKNOWN__ __UNKNOWN__ 14 90873412 90873412 __UNKNOWN__ 3'UTR SNP C C G rs3179089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:90873412C>G ENST00000356978.4 + 0 3049 NM_006888.4 NP_008819.1 P62158 CALM_HUMAN calmodulin 1 (phosphorylase kinase, delta) NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 10 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831) GGCCAGGATCCTGTCTGGGAA 0.517 NA c||| 1431 0.285743 0.0484 0.3285 5008 , , NA 14234 0.1964 NA 0.5636 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS9892.1 14q32.11 2013-02-25 ENSG00000198668 ENSG00000198668 801 2.7.11.19 EF-hand domain containing, Endogenous ligands 1442 protein-coding gene gene with protein product prepro-calmodulin 1 114180 CALML2 NA 6385987 Standard NM_006888 NA Approved CAMI, PHKD, DD132 uc001xyl.2 P62158 OTTHUMG00000171044 ENST00000356978.4:c.*2351C>G chr14.hg19:g.90873412C>G NA P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3 hg19 CCDS9892.1 0.02 7.619246 ATCxTGT COVERED NOVEL CALM1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000411346.1 1 22.572462 KEEP 0 0 0 75 2668 CC 1 1 0 + 8 60 276 0 0 16.315817 224 60 8482 404 ENST00000356978.4 0.034483 1 CCDC88C 440193 __UNKNOWN__ __UNKNOWN__ 14 91804999 91804999 __UNKNOWN__ Intron SNP T T A rs1285788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:91804999T>A ENST00000389857.6 - 9 896 NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C NA NA protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055) PDZ domain binding (GO:0030165)|protein self-association (GO:0043621) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCCTAAAACCTGTGGGAAAAG 0.507 NA A||| 75 0.014976 0.0136 0.0144 5008 , , NA 19737 0.0268 NA 0.0149 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45151.1 14q32.12 2014-07-30 2007-05-31 2007-05-31 ENSG00000015133 440193 19967 protein-coding gene gene with protein product Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40 611204 KIAA1509 KIAA1509 NA 17185515, 25062847 Standard XM_029353 NM_001080414 NA Approved DAPLE, HkRP2, SCA40 uc010aty.3 Q9P219 ENST00000389857.6:c.810-85A>T chr14.hg19:g.91804999T>A NA Q69YK1|Q7L1M2|Q86SX7|Q8IYG8 hg19 CCDS45151.1 0.02 4.312299 ACCxGTG COVERED NOVEL CCDC88C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411650.1 1 8.72587 KEEP 0 0 0 29 904 TT 0.999997 0.999997 0 - 6 60 228 0 0 14.834872 138 60 5156 221 ENST00000389857.6 0.041667 1 CCDC88C 440193 __UNKNOWN__ __UNKNOWN__ 14 91805862 91805862 __UNKNOWN__ Intron SNP C C T rs1285791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:91805862C>T ENST00000389857.6 - 8 711 NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C NA NA protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055) PDZ domain binding (GO:0030165)|protein self-association (GO:0043621) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) ACCAGCACAACGCCTGAGCTT 0.552 NA C||| 57 0.0113818 0.0 0.0144 5008 , , NA 18750 0.0268 NA 0.0149 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45151.1 14q32.12 2014-07-30 2007-05-31 2007-05-31 ENSG00000015133 440193 19967 protein-coding gene gene with protein product Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40 611204 KIAA1509 KIAA1509 NA 17185515, 25062847 Standard XM_029353 NM_001080414 NA Approved DAPLE, HkRP2, SCA40 uc010aty.3 Q9P219 ENST00000389857.6:c.625-56G>A chr14.hg19:g.91805862C>T NA Q69YK1|Q7L1M2|Q86SX7|Q8IYG8 hg19 CCDS45151.1 0.02 3.988516 CAAxGCC COVERED NOVEL CCDC88C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000411650.1 0 9.931516 KEEP 0 0 0 33 1151 CC 0.999998 0.999997 0 - 5 60 173 0 0 10.592749 119 60 4059 203 ENST00000389857.6 0.040323 0.999999 CPSF2 53981 __UNKNOWN__ __UNKNOWN__ 14 92628952 92628952 __UNKNOWN__ 3'UTR SNP T T G rs3088123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:92628952T>G ENST00000298875.4 + 0 3498 NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa NA NA gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654) RNA binding (GO:0003723) breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) GGTGTAAATGTTTTCATCTCT 0.338 NA T||| 1239 0.247404 0.298 0.1052 5008 , , NA 19374 0.3234 NA 0.164 False NA ,,, NA NA NA 2504 0.2873 NA NA NA Ovarian(78;28 1788 18702 44111) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037788 CCDS9902.1 14q31.1 2008-07-28 2002-08-29 ENSG00000165934 53981 2325 protein-coding gene gene with protein product 606028 cleavage and polyadenylation specific factor 2, 100kD subunit NA 7969155, 11124543 Standard NM_017437 NA Approved KIAA1367 uc001yah.2 Q9P2I0 ENST00000298875.4:c.*864T>G chr14.hg19:g.92628952T>G NA B3KME1|Q6NSJ1|Q9H3W7 hg19 CCDS9902.1 0.02 9.451823 ATGxTTT COVERED NOVEL CPSF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412123.1 4 11.433914 KEEP 0 0 0 38 1207 TT 1 1 0 + 12 60 443 0 0 30.188893 193 60 6874 279 ENST00000298875.4 0.058537 1 SLC24A4 123041 __UNKNOWN__ __UNKNOWN__ 14 92958607 92958607 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:92958607C>T ENST00000531433.1 + 17 1755 SLC24A4_ENST00000532405.1_Intron|SLC24A4_ENST00000298877.1_Intron|SLC24A4_ENST00000393265.2_Intron|SLC24A4_ENST00000351924.5_Intron NM_153647.3 NP_705933.2 Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 NA NA amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293) breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) AATTCCAAAACAGATGCCTCA 0.493 NA NA NA NA NA NA NA NA NA NA NSCLC(10;315 435 10383 28450 38798) NA 0 140 131 134 NA NA 14 NA 92958607 2203 4300 6503 SO:0001627 intron_variant AF520704 CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2 14q32.12 2013-05-22 ENSG00000140090 ENSG00000140090 123041 Solute carriers 10978 protein-coding gene gene with protein product 609840 NA Standard NM_153646 NM_153646 NA Approved NCKX4 uc001yak.3 Q8NFF2 OTTHUMG00000167589 ENST00000531433.1:c.1659+23C>T chr14.hg19:g.92958607C>T NA B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1 hg19 CCDS45155.2 0.02 4.299726 AAAxAGA COVERED NOVEL SLC24A4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395239.1 1 8.427878 KEEP 0 0 0 28 1028 CC 0.999997 0.999997 0 + 6 60 229 0 0 15.125141 128 60 4870 198 ENST00000531433.1 0.044776 1 RIN3 79890 __UNKNOWN__ __UNKNOWN__ 14 93153606 93153606 __UNKNOWN__ Intron SNP G G C rs75306313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:93153606G>C ENST00000216487.7 + 10 2790 RIN3_ENST00000418924.2_Intron NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 NA NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165) cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769) GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GCAGGTGTGGGGCTGGGTCCC 0.706 NA G||| 812 0.162141 0.0575 0.1239 5008 , , NA 12103 0.3175 NA 0.1342 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC025248 CCDS32144.1 14q32.13 2008-08-29 ENSG00000100599 79890 18751 protein-coding gene gene with protein product 610223 NA 11733506 Standard NM_024832 NA Approved FLJ22439 uc001yap.3 Q8TB24 ENST00000216487.7:c.2632-665G>C chr14.hg19:g.93153606G>C NA Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1 hg19 CCDS32144.1 0.02 6.82949 TGGxGCT COVERED NOVEL RIN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412269.1 1 17.430551 KEEP 0 0 0 58 2061 GG 1 1 0 + 9 60 334 0 0 22.321614 165 60 5825 305 ENST00000216487.7 0.051724 1 CHGA 1113 __UNKNOWN__ __UNKNOWN__ 14 93398031 93398031 __UNKNOWN__ Intron SNP G G C rs9658655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:93398031G>C ENST00000334654.4 + 6 539 CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000216492.5_Missense_Mutation_p.E264D P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) NA NA regulation of blood pressure (GO:0008217) extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141) cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) GCTACAAGGAGATCCGGAAAG 0.602 NA G||| 919 0.183506 0.2171 0.1859 5008 , , NA 17551 0.2391 NA 0.0736 False NA ,,, NA NA NA 2504 0.1922 NA NA NA Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204) NA 0 G ASP/GLU 791,3615 316.9+/-294.8 72,647,1484 74 82 79 792 4 0.3 14 dbSNP_119 79 719,7881 174.9+/-225.1 39,641,3620 yes missense CHGA NM_001275.3 45 111,1288,5104 CC,CG,GG 8.3605,17.9528,11.61 possibly-damaging 264/458 93398031 1510,11496 2203 4300 6503 SO:0001627 intron_variant CCDS9906.1 14q32 2012-10-02 ENSG00000100604 ENSG00000100604 1113 1929 protein-coding gene gene with protein product vasostatin, pancreastatin, parastatin 118910 NA 3403545 Standard NM_001275 NM_001275 NA Approved uc001ybc.4 P10645 ENST00000334654.4:c.356-684G>C chr14.hg19:g.93398031G>C NA B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5 hg19 0.02 13.852523 GGAxATC COVERED 338 0.15476190476190477 107 0.21747967479674796 62 0.1712707182320442 119 0.20804195804195805 50 0.06596306068601583 G 16.53 3.149949 0.57151 0.179528 0.083605 ENSG00000100604 ENST00000216492 T 0.01705 4.68 3.98 3.98 0.46160 . 0.488362 0.18742 N 0.132431 T 0.00012 0.0000 M 0.71581 2.175 0.09310 P 0.9999999999951047 P 0.46064 0.872 P 0.47044 0.535 T 0.58487 -0.7628 9 0.32370 T 0.25 -9.1078 13.1475 0.59470 0.0:0.0:1.0:0.0 rs9658655;rs17847013;rs9658655 264 P10645 CMGA_HUMAN D 264 ENSP00000216492:E264D ENSP00000216492:E264D E + 3 2 CHGA 92467784 0.430000 0.25538 0.261000 0.24466 0.009000 0.06853 0.676000 0.25247 1.940000 0.56252 0.455000 0.32223 GAG NOVEL CHGA-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412414.1 2 15.952378 KEEP 0 0 0 53 1919 GG 1 1 0 + 13 60 484 0 0 30.702225 324 60 12132 492 ENST00000334654.4 0.038576 1 CHGA 1113 __UNKNOWN__ __UNKNOWN__ 14 93398078 93398078 __UNKNOWN__ Intron SNP G G A rs9658656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:93398078G>A ENST00000334654.4 + 6 539 CHGA_ENST00000553866.1_Intron|CHGA_ENST00000216492.5_Intron P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) NA NA regulation of blood pressure (GO:0008217) extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141) cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) CTCAACGAACGTGTCTGGGAG 0.547 NA G||| 913 0.182308 0.2156 0.1859 5008 , , NA 18119 0.2391 NA 0.0736 False NA ,,, NA NA NA 2504 0.1881 NA NA NA Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204) NA 0 G 785,3621 301.8+/-287.1 71,643,1489 57 62 61 -0.5 0 14 dbSNP_119 61 715,7885 171.6+/-222.5 39,637,3624 no intron CHGA NM_001275.3 110,1280,5113 AA,AG,GG 8.314,17.8166,11.5331 93398078 1500,11506 2203 4300 6503 SO:0001627 intron_variant CCDS9906.1 14q32 2012-10-02 ENSG00000100604 ENSG00000100604 1113 1929 protein-coding gene gene with protein product vasostatin, pancreastatin, parastatin 118910 NA 3403545 Standard NM_001275 NM_001275 NA Approved uc001ybc.4 P10645 ENST00000334654.4:c.356-637G>A chr14.hg19:g.93398078G>A NA B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5 hg19 0.02 11.086081 AACxTGT COVERED NOVEL CHGA-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412414.1 1 12.038768 KEEP 0 0 0 40 1385 GG 1 1 0 + 13 60 473 0 0 30.468654 277 60 9960 425 ENST00000334654.4 0.044828 1 ITPK1 3705 __UNKNOWN__ __UNKNOWN__ 14 93412743 93412743 __UNKNOWN__ Silent SNP G G A rs2295394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:93412743G>A ENST00000267615.6 - 10 1007 c.834C>T c.(832-834)ttC>ttT p.F278F ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.F278F|ITPK1_ENST00000555495.1_Silent_p.F159F|ITPK1_ENST00000354313.3_Silent_p.F278F Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase 278 ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}. NA blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) TGTCGATGCCGAAGAGTGACA 0.647 NA G||| 545 0.108826 0.0756 0.0461 5008 , , NA 20421 0.2133 NA 0.0606 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 G ,, 365,4041 186.4+/-213.3 17,331,1855 117 102 107 834,834,834 -5.1 0.5 14 dbSNP_100 107 544,8056 149.5+/-204.6 18,508,3774 no coding-synonymous,coding-synonymous,coding-synonymous ITPK1 NM_001142593.1,NM_001142594.1,NM_014216.4 ,, 35,839,5629 AA,AG,GG 6.3256,8.2842,6.9891 ,, 278/415,278/315,278/415 93412743 909,12097 2203 4300 6503 SO:0001819 synonymous_variant U51336 CCDS9907.1, CCDS45157.1 14q32.12 2012-08-16 2011-04-28 ENSG00000100605 ENSG00000100605 3705 2.7.1.134 6177 protein-coding gene gene with protein product 601838 inositol 1,3,4-triphosphate 5/6 kinase NA 8662638, 11042108 Standard NM_014216 NM_014216 NA Approved uc001ybh.3 Q13572 OTTHUMG00000171226 ENST00000267615.6:c.834C>T chr14.hg19:g.93412743G>A NA Q9BTL6|Q9H2E7 hg19 CCDS9907.1 0.02 4.364583 GCCxAAG COVERED NOVEL ITPK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412421.2 1 13.841467 KEEP 0 0 0 46 1493 GG 1 1 0 - 10 60 350 0 0 24.197753 128 60 4535 224 ENST00000267615.6 0.072464 1 UBR7 55148 __UNKNOWN__ __UNKNOWN__ 14 93693422 93693422 __UNKNOWN__ 3'UTR SNP C C T rs2905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:93693422C>T ENST00000013070.6 + 0 1555 UBR7_ENST00000416753.1_3'UTR NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) NA NA ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 AATGAAAATGCGCTTCCCATT 0.463 NA C||| 974 0.194489 0.0204 0.281 5008 , , NA 18727 0.2669 NA 0.329 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C 299,4107 162.9+/-194.8 7,285,1911 36 36 36 3.1 0 14 dbSNP_36 36 2866,5734 434.9+/-357.9 465,1936,1899 no utr-3 UBR7 NM_175748.3 472,2221,3810 TT,TC,CC 33.3256,6.7862,24.3349 93693422 3165,9841 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK001345 CCDS9909.1 14q32.12 2008-06-23 2008-06-23 2008-06-23 ENSG00000012963 55148 Ubiquitin protein ligase E3 component n-recognins 20344 protein-coding gene gene with protein product 613816 chromosome 14 open reading frame 130 C14orf130 NA 18162545 Standard NM_175748 NM_175748 NA Approved uc001ybm.4 Q8N806 ENST00000013070.6:c.*41C>T chr14.hg19:g.93693422C>T NA Q86U21|Q86UA9|Q96BY0|Q9NVV6 hg19 CCDS9909.1 0.02 27.548996 ATGxGCT COVERED NOVEL UBR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412693.1 1 22.873667 KEEP 0 0 0 76 2674 CC 1 1 0 + 24 60 860 0 0 52.711819 636 60 22047 905 ENST00000013070.6 0.036364 1 UNC79 57578 __UNKNOWN__ __UNKNOWN__ 14 93813490 93813490 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:93813490C>A ENST00000256339.4 + 1 305 NM_020818.3 NP_065869.3 Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) NA NA behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GGGGCGAGGGCAGAGCGCCCC 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037830 CCDS9911.2 14q32.13 2011-08-18 2011-08-18 2011-08-18 ENSG00000133958 ENSG00000133958 57578 19966 protein-coding gene gene with protein product KIAA1409 KIAA1409 NA 20714347, 21040849 Standard XM_028395 NM_020818 NA Approved uc001ybs.1 Q9P2D8 OTTHUMG00000029783 ENST00000256339.4:c.-351+13621C>A chr14.hg19:g.93813490C>A NA B5MDL6|Q6ZUT7 hg19 CCDS9911.2 0.02 3.911208 GGGxAGA COVERED NOVEL UNC79-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000074288.2 0 9.172051 KEEP 0 2 33 43 1172 CC 1 1 0 + 21 60 303 0 0 11.3271 228 60 6157 365 ENST00000256339.4 0.084337 1 PRIMA1 145270 __UNKNOWN__ __UNKNOWN__ 14 94245799 94245799 __UNKNOWN__ Intron SNP A A C rs35980137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94245799A>C ENST00000393140.1 - 3 196 PRIMA1_ENST00000393143.1_Intron|PRIMA1_ENST00000316227.3_Intron NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 NA NA establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202) endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GAATCAACAGAAGTCGGATTG 0.547 NA A||| 461 0.0920527 0.0567 0.0533 5008 , , NA 13613 0.1984 NA 0.0606 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9912.1 14q32.13 2008-08-29 ENSG00000175785 ENSG00000175785 145270 18319 protein-coding gene gene with protein product membrane anchor of acetylcholinesterase 613851 NA 11804574 Standard NM_178013 NM_178013 NA Approved PRIMA uc001ybw.1 Q86XR5 OTTHUMG00000141313 ENST00000393140.1:c.94-142T>G chr14.hg19:g.94245799A>C NA Q86XR6 hg19 CCDS9912.1 0.02 2.017735 CAGxAGT COVERED NOVEL PRIMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280658.1 0 2.406069 KEEP 0 0 0 8 230 AA 0.99257 0.98632 0 - 4 60 149 0 0 10.284069 61 60 2149 73 ENST00000393140.1 0.061538 0.993703 ASB2 51676 __UNKNOWN__ __UNKNOWN__ 14 94423294 94423294 __UNKNOWN__ Intron SNP T T C rs3765494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94423294T>C ENST00000555019.1 - 3 637 ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_5'UTR NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 NA NA intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914) Cul5-RING ubiquitin ligase complex (GO:0031466) ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CAGGCAGGAATGAGGATGGAG 0.572 NA C||| 1341 0.267772 0.2557 0.1931 5008 , , NA 14186 0.6022 NA 0.0895 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 C , 1006,3400 729.0+/-410.0 115,776,1312 75 71 73 , -3.6 0 14 dbSNP_107 73 848,7752 780.3+/-407.7 48,752,3500 no intron,utr-5 ASB2 NM_001202429.1,NM_016150.4 , 163,1528,4812 CC,CT,TT 9.8605,22.8325,14.255 , , 94423294 1854,11152 2203 4300 6503 SO:0001627 intron_variant AF159164 CCDS9915.1, CCDS55940.1 14q31-q32 2013-01-10 2011-01-25 51676 Ankyrin repeat domain containing 16012 protein-coding gene gene with protein product 605759 ankyrin repeat and SOCS box-containing 2 NA Standard NM_016150 NA Approved ASB-2 uc001ycd.3 Q96Q27 ENST00000555019.1:c.207-78A>G chr14.hg19:g.94423294T>C NA B2RDP9|B4E166|Q9NSU5|Q9Y567 hg19 CCDS55940.1 0.02 8.884245 GAAxGAG COVERED NOVEL ASB2-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412844.1 1 13.238116 KEEP 0 0 0 44 1347 TT 1 1 0 - 15 60 517 0 0 34.318607 232 60 8469 381 ENST00000555019.1 0.060729 1 ASB2 51676 __UNKNOWN__ __UNKNOWN__ 14 94423727 94423727 __UNKNOWN__ Intron SNP G G A rs3814823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94423727G>A ENST00000555019.1 - 3 637 ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_5'UTR NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 NA NA intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914) Cul5-RING ubiquitin ligase complex (GO:0031466) ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCTCATTAGGGGATCTTGTCC 0.542 NA G||| 1214 0.242412 0.1573 0.1859 5008 , , NA 17475 0.619 NA 0.0815 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF159164 CCDS9915.1, CCDS55940.1 14q31-q32 2013-01-10 2011-01-25 51676 Ankyrin repeat domain containing 16012 protein-coding gene gene with protein product 605759 ankyrin repeat and SOCS box-containing 2 NA Standard NM_016150 NA Approved ASB-2 uc001ycd.3 Q96Q27 ENST00000555019.1:c.207-511C>T chr14.hg19:g.94423727G>A NA B2RDP9|B4E166|Q9NSU5|Q9Y567 hg19 CCDS55940.1 0.02 2.180229 AGGxGAT COVERED NOVEL ASB2-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412844.1 0 4.213788 KEEP 0 0 0 14 502 GG 0.995343 0.995225 0 - 4 60 150 0 0 9.765184 88 60 3212 134 ENST00000555019.1 0.043478 0.999881 OTUB2 78990 __UNKNOWN__ __UNKNOWN__ 14 94512415 94512415 __UNKNOWN__ 3'UTR SNP T T C rs8021300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94512415T>C ENST00000203664.5 + 0 1061 NM_023112.3 NP_075601.1 Q96DC9 OTUB2_HUMAN OTU deubiquitinase, ubiquitin aldehyde binding 2 NA NA cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536) nucleus (GO:0005634) omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843) kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) ACGAGGCCTATCCACTATGGA 0.448 NA C||| 2865 0.572085 0.9319 0.5749 5008 , , NA 20333 0.4395 NA 0.4235 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF318378 CCDS9917.1 14q32.13-q32.2 2014-02-24 2014-02-24 2004-05-28 ENSG00000089723 78990 OTU domain containing 20351 protein-coding gene gene with protein product 608338 chromosome 14 open reading frame 137, OTU domain, ubiquitin aldehyde binding 2 C14orf137 NA 12704427, 19996094 Standard NM_023112 NA Approved FLJ21916, MGC3102 uc001ych.4 Q96DC9 ENST00000203664.5:c.*147T>C chr14.hg19:g.94512415T>C NA Q6IA10|Q9H6T1 hg19 CCDS9917.1 0.02 4.305516 CTAxCCA COVERED NOVEL OTUB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412855.1 2 5.717043 KEEP 0 0 0 19 584 TT 0.99986 0.999859 0 + 5 60 181 0 0 11.427132 117 60 4150 149 ENST00000203664.5 0.040984 0.999999 OTUB2 78990 __UNKNOWN__ __UNKNOWN__ 14 94512785 94512785 __UNKNOWN__ 3'UTR SNP A A G rs3827900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94512785A>G ENST00000203664.5 + 0 1431 NM_023112.3 NP_075601.1 Q96DC9 OTUB2_HUMAN OTU deubiquitinase, ubiquitin aldehyde binding 2 NA NA cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536) nucleus (GO:0005634) omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843) kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) TGTGAGGGCTACGGTGTGGTT 0.443 NA G||| 2462 0.491613 0.6853 0.5317 5008 , , NA 18880 0.4365 NA 0.4066 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF318378 CCDS9917.1 14q32.13-q32.2 2014-02-24 2014-02-24 2004-05-28 ENSG00000089723 78990 OTU domain containing 20351 protein-coding gene gene with protein product 608338 chromosome 14 open reading frame 137, OTU domain, ubiquitin aldehyde binding 2 C14orf137 NA 12704427, 19996094 Standard NM_023112 NA Approved FLJ21916, MGC3102 uc001ych.4 Q96DC9 ENST00000203664.5:c.*517A>G chr14.hg19:g.94512785A>G NA Q6IA10|Q9H6T1 hg19 CCDS9917.1 0.02 4.223059 GCTxCGG COVERED NOVEL OTUB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412855.1 0 5.412101 KEEP 0 0 0 18 526 AA 0.999859 0.999858 0 + 5 60 189 0 0 12.261791 115 60 4065 169 ENST00000203664.5 0.041667 0.999999 OTUB2 78990 __UNKNOWN__ __UNKNOWN__ 14 94513066 94513066 __UNKNOWN__ 3'UTR SNP C C T rs3748331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94513066C>T ENST00000203664.5 + 0 1712 NM_023112.3 NP_075601.1 Q96DC9 OTUB2_HUMAN OTU deubiquitinase, ubiquitin aldehyde binding 2 NA NA cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536) nucleus (GO:0005634) omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843) kidney(1)|large_intestine(1)|lung(2)|ovary(1) 5 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) ACCAGGAAGCCGCAGCTGTCC 0.547 NA T||| 2453 0.489816 0.6831 0.5317 5008 , , NA 17909 0.4315 NA 0.4066 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF318378 CCDS9917.1 14q32.13-q32.2 2014-02-24 2014-02-24 2004-05-28 ENSG00000089723 78990 OTU domain containing 20351 protein-coding gene gene with protein product 608338 chromosome 14 open reading frame 137, OTU domain, ubiquitin aldehyde binding 2 C14orf137 NA 12704427, 19996094 Standard NM_023112 NA Approved FLJ21916, MGC3102 uc001ych.4 Q96DC9 ENST00000203664.5:c.*798C>T chr14.hg19:g.94513066C>T NA Q6IA10|Q9H6T1 hg19 CCDS9917.1 0.02 6.472248 AGCxGCA COVERED NOVEL OTUB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000412855.1 0 8.560815 KEEP 0 1 33 40 1341 CC 1 1 0 + 6 60 224 1 0 13.994406 164 60 5669 251 ENST00000203664.5 0.035294 1 DDX24 57062 __UNKNOWN__ __UNKNOWN__ 14 94527525 94527525 __UNKNOWN__ Intron SNP C C T rs11846519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94527525C>T ENST00000555054.1 - 4 1206 DDX24_ENST00000330836.5_Intron|DDX24_ENST00000544005.1_Intron Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 NA NA RNA metabolic process (GO:0016070) membrane (GO:0016020)|nucleolus (GO:0005730) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) AGTGTAATGCCCTAGAGCATT 0.483 NA T||| 2680 0.535144 0.8411 0.549 5008 , , NA 20027 0.4315 NA 0.4095 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF214731 CCDS9918.1 14q32 2013-07-16 2013-07-16 ENSG00000089737 57062 DEAD-boxes 13266 protein-coding gene gene with protein product 606181 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 NA 10936056, 18289627 Standard NM_020414 NM_020414 NA Approved uc001ycj.3 Q9GZR7 ENST00000555054.1:c.1115-113G>A chr14.hg19:g.94527525C>T NA E7EMJ4|Q4V9L5 hg19 0.02 3.654386 TGCxCTA COVERED NOVEL DDX24-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412863.1 0 3.009593 KEEP 0 0 0 10 338 CC 0.992708 0.992707 0 - 5 60 176 0 0 10.821259 123 60 4341 139 ENST00000555054.1 0.039062 1 DDX24 57062 __UNKNOWN__ __UNKNOWN__ 14 94543323 94543323 __UNKNOWN__ Intron SNP T T C rs12881450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94543323T>C ENST00000555054.1 - 2 681 DDX24_ENST00000330836.5_Intron|DDX24_ENST00000544005.1_Intron Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 NA NA RNA metabolic process (GO:0016070) membrane (GO:0016020)|nucleolus (GO:0005730) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724) cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) tgaacacatttatgatgatcc 0.348 NA T||| 1511 0.301717 0.2103 0.4496 5008 , , NA 14207 0.3264 NA 0.3231 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF214731 CCDS9918.1 14q32 2013-07-16 2013-07-16 ENSG00000089737 57062 DEAD-boxes 13266 protein-coding gene gene with protein product 606181 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 NA 10936056, 18289627 Standard NM_020414 NM_020414 NA Approved uc001ycj.3 Q9GZR7 ENST00000555054.1:c.589+2047A>G chr14.hg19:g.94543323T>C NA E7EMJ4|Q4V9L5 hg19 0.02 -0.122826 ATTxATG COVERED NOVEL DDX24-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412863.1 0 2.706076 KEEP 0 0 0 9 251 TT 0.99254 0.194847 0 - 2 60 82 0 0 6.660829 12 60 441 26 ENST00000555054.1 0.142857 0.196312 IFI27L1 122509 __UNKNOWN__ __UNKNOWN__ 14 94568776 94568776 __UNKNOWN__ Intron SNP C C T rs2295217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94568776C>T ENST00000557066.1 + 5 347 IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000554562.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000555523.1_Intron|IFI27L1_ENST00000557218.1_Intron|IFI27L1_ENST00000393115.3_Intron|IFI27L1_ENST00000553664.1_Intron|IFI27L1_ENST00000556381.1_Intron Q96BM0 I27L1_HUMAN interferon, alpha-inducible protein 27-like 1 NA NA integral component of membrane (GO:0016021) lung(2) 2 CTGTTAGGAGCTGCTACCCCT 0.602 NA c||| 1198 0.239217 0.1135 0.2421 5008 , , NA 16502 0.4772 NA 0.2177 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 , 633,3773 266.8+/-267.5 49,535,1619 33 30 31 , 0.2 0 14 dbSNP_100 31 1982,6618 340.0+/-323.4 228,1526,2546 no intron,intron IFI27L1 NM_145249.2,NM_206949.2 , 277,2061,4165 TT,TC,CC 23.0465,14.3668,20.1061 , , 94568776 2615,10391 2203 4300 6503 SO:0001627 intron_variant BC015423 CCDS9919.1 14q32.13 2008-10-08 2008-10-08 2008-10-08 ENSG00000165948 122509 19754 protein-coding gene gene with protein product 611320 family with sequence similarity 14, member B FAM14B NA Standard NM_206949 NM_145249 NA Approved uc001yck.3 Q96BM0 ENST00000557066.1:c.62-47C>T chr14.hg19:g.94568776C>T NA hg19 0.02 1.689973 GAGxTGC COVERED NOVEL IFI27L1-010 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000412879.1 3 2.708922 KEEP 0 0 0 9 328 CC 0.99254 0.992403 0 + 4 60 143 0 0 9.085583 87 60 3185 105 ENST00000557066.1 0.043956 0.999862 SERPINA11 256394 __UNKNOWN__ __UNKNOWN__ 14 94912896 94912896 __UNKNOWN__ Missense_Mutation SNP T T G rs1885137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94912896T>G ENST00000334708.3 - 3 753 c.689A>C c.(688-690)gAa>gCa p.E230A RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 230 NA E -> A (in dbSNP:rs1885137). negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) AAAGAAACTTTCCTGCTTCTG 0.488 NA T||| 1304 0.260383 0.0613 0.2695 5008 , , NA 21655 0.1835 NA 0.4503 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 T ALA/GLU 587,3819 258.6+/-262.5 46,495,1662 154 145 148 689 -6.3 0.1 14 dbSNP_92 148 3525,5075 515.2+/-378.5 700,2125,1475 yes missense SERPINA11 NM_001080451.1 107 746,2620,3137 GG,GT,TT 40.9884,13.3227,31.6162 benign 230/423 94912896 4112,8894 2203 4300 6503 SO:0001583 missense BX248259 CCDS32149.1 14q32.13 2014-02-18 2005-08-18 ENSG00000186910 ENSG00000186910 256394 Serine (or cysteine) peptidase inhibitors 19193 protein-coding gene gene with protein product serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 NA 15014966, 24172014 Standard NM_001080451 NM_001080451 NA Approved uc001ydd.1 Q86U17 OTTHUMG00000171348 ENST00000334708.3:c.689A>C chr14.hg19:g.94912896T>G ENSP00000335024:p.Glu230Ala NA B2RV07 hg19 CCDS32149.1 0.02 9.485041 CTTxCCT COVERED 613 0.2806776556776557 45 0.09146341463414634 108 0.2983425414364641 105 0.18356643356643357 355 0.4683377308707124 T 1.786 -0.480780 0.04383 0.133227 0.409884 ENSG00000186910 ENST00000334708 D 0.87887 -2.31 5.01 -6.34 0.01982 Serpin domain (3); 1.038600 0.07607 N 0.924607 T 0.00012 0.0000 L 0.58669 1.825 0.80722 P 0.0 B 0.24721 0.11 B 0.29077 0.098 T 0.35325 -0.9793 9 0.39692 T 0.17 . 3.0149 0.06057 0.1042:0.3435:0.2876:0.2647 rs57740714 230 Q86U17 SPA11_HUMAN A 230 ENSP00000335024:E230A ENSP00000335024:E230A E - 2 0 SERPINA11 93982649 0.000000 0.05858 0.091000 0.20842 0.252000 0.25951 -1.228000 0.02948 -0.657000 0.05373 0.454000 0.30748 GAA NOVEL SERPINA11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413091.1 1 10.228041 KEEP 0 0 0 34 1029 TT 0.999998 0.999998 0 - 7 60 261 0 0 15.925791 217 60 7813 312 ENST00000334708.3 0.03125 1 SERPINA9 327657 __UNKNOWN__ __UNKNOWN__ 14 94933709 94933709 __UNKNOWN__ Silent SNP C C T rs6575433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94933709C>T ENST00000380365.3 - 3 717 c.639G>A c.(637-639)gaG>gaA p.E213E SERPINA9_ENST00000448305.2_Silent_p.E133E|SERPINA9_ENST00000298845.7_Silent_p.E131E|SERPINA9_ENST00000546329.1_Silent_p.E195E|SERPINA9_ENST00000424550.2_Silent_p.E82E|SERPINA9_ENST00000337425.5_Silent_p.E231E Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 213 NA negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020) serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GAAAGGGCTTCTCCCACTTGG 0.458 NA C||| 1736 0.346645 0.2126 0.3588 5008 , , NA 21008 0.1825 NA 0.5427 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 C , 994,2806 120,754,1026 64 60 61 393,693 0.5 0.9 14 dbSNP_116 61 4326,3936 1123,2080,928 no coding-synonymous,coding-synonymous SERPINA9 NM_001042518.1,NM_175739.3 , 1243,2834,1954 TT,TC,CC 47.6398,26.1579,44.1055 , 131/336,231/436 94933709 5320,6742 1900 4131 6031 SO:0001819 synonymous_variant AY185497 CCDS41982.1, CCDS41983.1, CCDS61542.1 14q32.1 2014-02-18 2005-08-18 ENSG00000170054 ENSG00000170054 327657 Serine (or cysteine) peptidase inhibitors 15995 protein-coding gene gene with protein product 615677 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 NA 24172014 Standard NM_175739 NM_175739 NA Approved CENTERIN, SERPINA11b, GCET1 uc001ydf.3 Q86WD7 OTTHUMG00000167710 ENST00000380365.3:c.639G>A chr14.hg19:g.94933709C>T NA B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7 hg19 0.02 6.02727 CTTxTCC COVERED NOVEL SERPINA9-008 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000395803.2 3 3.345741 KEEP 0 1 34 23 818 CC 0.999909 0.999909 0 - 7 60 256 0 0 15.7998 191 60 7227 273 ENST00000380365.3 0.035354 1 SERPINA9 327657 __UNKNOWN__ __UNKNOWN__ 14 94935901 94935901 __UNKNOWN__ Missense_Mutation SNP G G C rs12879019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:94935901G>C ENST00000380365.3 - 2 355 c.277C>G c.(277-279)Cag>Gag p.Q93E SERPINA9_ENST00000448305.2_Missense_Mutation_p.Q13E|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.Q75E|SERPINA9_ENST00000424550.2_Intron|SERPINA9_ENST00000337425.5_Missense_Mutation_p.Q111E Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 93 NA Q -> E (in Ref. 4; BAG62686). {ECO:0000305}. negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020) serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TGGAGAATCTGGGTCTTGGTG 0.577 NA G||| 893 0.178315 0.0106 0.1787 5008 , , NA 18172 0.3472 NA 0.2356 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 G ,GLU/GLN 184,4086 4,176,1955 77 83 81 ,331 4.1 1 14 dbSNP_121 81 1745,6787 192,1361,2713 yes intron,missense SERPINA9 NM_001042518.1,NM_175739.3 ,29 196,1537,4668 CC,CG,GG 20.4524,4.3091,15.068 ,benign ,111/436 94935901 1929,10873 2135 4266 6401 SO:0001583 missense AY185497 CCDS41982.1, CCDS41983.1, CCDS61542.1 14q32.1 2014-02-18 2005-08-18 ENSG00000170054 ENSG00000170054 327657 Serine (or cysteine) peptidase inhibitors 15995 protein-coding gene gene with protein product 615677 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 NA 24172014 Standard NM_175739 NM_175739 NA Approved CENTERIN, SERPINA11b, GCET1 uc001ydf.3 Q86WD7 OTTHUMG00000167710 ENST00000380365.3:c.277C>G chr14.hg19:g.94935901G>C ENSP00000369723:p.Gln93Glu NA B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7 hg19 0.02 19.731571 TCTxGGT COVERED 446 0.2042124542124542 7 0.014227642276422764 71 0.19613259668508287 192 0.3356643356643357 176 0.23218997361477572 G 10.76 1.441231 0.25900 0.043091 0.204524 ENSG00000170054 ENST00000448305;ENST00000337425;ENST00000380365;ENST00000546329 D;D;D;D 0.88354 -2.37;-2.37;-2.37;-2.37 4.12 4.12 0.48240 Serpin domain (3); 0.110623 0.39341 U 0.001386 T 0.00012 0.0000 L 0.53780 1.695 0.29507 P 0.854496 P;P;P;P 0.48230 0.907;0.837;0.907;0.805 P;P;P;P 0.53593 0.664;0.669;0.517;0.73 T 0.51795 -0.8660 9 0.02654 T 1 . 13.3858 0.60795 0.0:0.1591:0.8409:0.0 rs12879019;rs17825566;rs52793329;rs12879019 75;93;13;111 Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7 .;SPA9_HUMAN;.;. E 13;111;93;75 ENSP00000414092:Q13E;ENSP00000337133:Q111E;ENSP00000369723:Q93E;ENSP00000445476:Q75E ENSP00000337133:Q111E Q - 1 0 SERPINA9 94005654 1.000000 0.71417 0.991000 0.47740 0.803000 0.45373 4.681000 0.61663 2.014000 0.59158 0.462000 0.41574 CAG NOVEL SERPINA9-008 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000395803.2 0 13.242997 KEEP 0 0 0 44 1577 GG 1 1 0 - 17 60 618 0 0 37.773605 479 60 17878 615 ENST00000380365.3 0.034274 1 SERPINA4 5267 __UNKNOWN__ __UNKNOWN__ 14 95033356 95033356 __UNKNOWN__ Silent SNP C C T rs5510 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95033356C>T ENST00000557004.1 + 3 1120 c.699C>T c.(697-699)ttC>ttT p.F233F SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.F233F|SERPINA4_ENST00000555095.1_Silent_p.F233F P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 233 NA negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) serine-type endopeptidase inhibitor activity (GO:0004867) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) CCAAAGACTTCTATGTTGATG 0.507 NA C||| 1505 0.300519 0.3434 0.1787 5008 , , NA 20522 0.2867 NA 0.2565 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 C 1375,3031 455.7+/-351.1 222,931,1050 112 103 106 699 2.6 0.4 14 dbSNP_52 106 2131,6469 366.6+/-334.4 260,1611,2429 no coding-synonymous SERPINA4 NM_006215.2 482,2542,3479 TT,TC,CC 24.7791,31.2074,26.9568 233/428 95033356 3506,9500 2203 4300 6503 SO:0001819 synonymous_variant L19684 CCDS9927.1 14q32.13 2014-02-18 2005-08-18 ENSG00000100665 ENSG00000100665 5267 Serine (or cysteine) peptidase inhibitors 8948 protein-coding gene gene with protein product 147935 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 PI4 NA 8227002, 24172014 Standard NM_006215 NM_001289032 NA Approved KST, KAL, KLST, kallistatin uc001ydk.3 P29622 OTTHUMG00000170859 ENST00000557004.1:c.699C>T chr14.hg19:g.95033356C>T NA Q53XB5|Q86TR9|Q96BZ5 hg19 CCDS9927.1 0.02 3.575554 CTTxTAT COVERED NOVEL SERPINA4-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410718.1 0 7.211421 KEEP 0 0 0 24 853 CC 0.999909 0.999909 0 + 6 60 212 0 0 13.369142 131 60 4962 199 ENST00000557004.1 0.043796 1 SERPINA5 5104 __UNKNOWN__ __UNKNOWN__ 14 95033595 95033595 __UNKNOWN__ Intron SNP A A T rs5511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95033595A>T ENST00000553780.1 + 1 53 SERPINA4_ENST00000557004.1_Intron|SERPINA4_ENST00000298841.5_Intron|SERPINA4_ENST00000555095.1_Intron P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 NA NA fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283) acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234) acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867) endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) TCAGTGTGCTATGGGGGCTGA 0.423 NA A||| 1306 0.260783 0.2678 0.1614 5008 , , NA 20866 0.2659 NA 0.2326 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 A 1097,3307 371.2+/-319.9 148,801,1253 64 66 65 -7 0 14 dbSNP_52 65 1884,6716 325.9+/-317.1 204,1476,2620 no intron SERPINA4 NM_006215.2 352,2277,3873 TT,TA,AA 21.907,24.9092,22.9237 95033595 2981,10023 2202 4300 6502 SO:0001627 intron_variant M68516 CCDS9928.1 14q32.1 2014-02-18 2005-08-18 ENSG00000188488 ENSG00000188488 5104 Serine (or cysteine) peptidase inhibitors 8723 protein-coding gene gene with protein product 601841 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 PLANH3, PCI NA 1714450, 8381582, 24172014 Standard NM_000624 NM_000624 NA Approved PAI3, PROCI uc001ydm.3 P05154 OTTHUMG00000170860 ENST00000553780.1:c.-241+5764A>T chr14.hg19:g.95033595A>T NA Q07616|Q9UG30 hg19 CCDS9928.1 0.02 4.289127 GCTxTGG COVERED NOVEL SERPINA5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410722.1 0 7.220602 KEEP 0 0 0 24 729 AA 0.999909 0.999909 0 + 6 60 220 0 0 14.436661 118 60 4269 183 ENST00000553780.1 0.048387 0.999999 DICER1 23405 __UNKNOWN__ __UNKNOWN__ 14 95553362 95553362 __UNKNOWN__ 3'UTR SNP A A G rs3742330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95553362A>G ENST00000526495.1 - 0 9533 DICER1_ENST00000343455.3_3'UTR|DICER1_ENST00000393063.1_3'UTR Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III NA NA angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442) ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AAGGGATTAGACACCCTAACA 0.428 NA Mis F, N sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome A||| 692 0.138179 0.0136 0.1571 5008 , , NA 14754 0.3532 NA 0.0795 False NA ,,, NA NA NA 2504 0.1319 NA NA NA yes Rec yes Familial Pleuropulmonary Blastoma 14 14q32.13 23405 dicer 1, ribonuclease type III E, M, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial AB028449 CCDS9931.1, CCDS55941.1 14q32.13 2014-09-17 2008-02-20 ENSG00000100697 ENSG00000100697 23405 17098 protein-coding gene gene with protein product dicer 1, double-stranded RNA-specific endoribonuclease 606241 Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1 MNG1 NA 10051563, 10786632, 21205968 Standard NM_177438 NA Approved Dicer, KIAA0928, K12H4.8-LIKE, HERNA uc001ydw.2 Q9UPY3 OTTHUMG00000166134 ENST00000526495.1:c.*3473T>C chr14.hg19:g.95553362A>G NA A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02 hg19 CCDS9931.1 0.02 7.315436 TAGxCAC COVERED NOVEL DICER1-004 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387997.1 1 7.823342 KEEP 0 0 0 26 821 AA 0.999957 0.999957 0 - 8 60 303 1 0 20.218993 157 60 5548 224 ENST00000526495.1 0.048485 1 DICER1 23405 __UNKNOWN__ __UNKNOWN__ 14 95572318 95572318 __UNKNOWN__ Intron SNP A A G rs147668333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95572318A>G ENST00000526495.1 - 20 3279 DICER1_ENST00000343455.3_Intron|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000556045.1_Intron|DICER1_ENST00000527414.1_Intron|DICER1_ENST00000393063.1_Intron Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III NA NA angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442) ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTGCATGTCTAGTGATGTCTG 0.522 NA Mis F, N sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome A||| 38 0.00758786 0.0 0.0 5008 , , NA 18232 0.0357 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA yes Rec yes Familial Pleuropulmonary Blastoma 14 14q32.13 23405 dicer 1, ribonuclease type III E, M, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial AB028449 CCDS9931.1, CCDS55941.1 14q32.13 2014-09-17 2008-02-20 ENSG00000100697 ENSG00000100697 23405 17098 protein-coding gene gene with protein product dicer 1, double-stranded RNA-specific endoribonuclease 606241 Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1 MNG1 NA 10051563, 10786632, 21205968 Standard NM_177438 NA Approved Dicer, KIAA0928, K12H4.8-LIKE, HERNA uc001ydw.2 Q9UPY3 OTTHUMG00000166134 ENST00000526495.1:c.2987+59T>C chr14.hg19:g.95572318A>G NA A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02 hg19 CCDS9931.1 0.02 9.24506 TCTxGTG COVERED NOVEL DICER1-004 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387997.1 2 10.228469 KEEP 0 0 0 34 1032 AA 0.999998 0.999998 0 - 13 60 472 0 0 31.498066 226 60 8086 305 ENST00000526495.1 0.054393 1 DICER1 23405 __UNKNOWN__ __UNKNOWN__ 14 95578675 95578675 __UNKNOWN__ Intron SNP T T C rs2297730 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95578675T>C ENST00000526495.1 - 15 2332 DICER1_ENST00000343455.3_Intron|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527414.1_Intron|DICER1_ENST00000393063.1_Intron Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III NA NA angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442) ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCCCCAACATTTTTAAAGTTC 0.294 NA Mis F, N sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome C||| 1222 0.24401 0.3971 0.1859 5008 , , NA 15618 0.3542 NA 0.0805 False NA ,,, NA NA NA 2504 0.1329 NA NA NA yes Rec yes Familial Pleuropulmonary Blastoma 14 14q32.13 23405 dicer 1, ribonuclease type III E, M, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial AB028449 CCDS9931.1, CCDS55941.1 14q32.13 2014-09-17 2008-02-20 ENSG00000100697 ENSG00000100697 23405 17098 protein-coding gene gene with protein product dicer 1, double-stranded RNA-specific endoribonuclease 606241 Dicer1, Dcr-1 homolog (Drosophila), multinodular goitre 1 MNG1 NA 10051563, 10786632, 21205968 Standard NM_177438 NA Approved Dicer, KIAA0928, K12H4.8-LIKE, HERNA uc001ydw.2 Q9UPY3 OTTHUMG00000166134 ENST00000526495.1:c.2041-91A>G chr14.hg19:g.95578675T>C NA A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02 hg19 CCDS9931.1 0.02 14.479188 CATxTTT COVERED NOVEL DICER1-004 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387997.1 1 20.160462 KEEP 0 0 0 67 2171 TT 1 1 0 - 14 60 544 0 0 36.252339 299 60 10773 457 ENST00000526495.1 0.044728 1 CLMN 79789 __UNKNOWN__ __UNKNOWN__ 14 95659747 95659747 __UNKNOWN__ Intron SNP C C T rs3180753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95659747C>T ENST00000298912.4 - 12 2954 CLMN_ENST00000556441.1_5'UTR|CLMN_ENST00000557215.1_Intron NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) NA NA negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CTTCTGAGTACTGTACCTGCA 0.493 NA T||| 1162 0.232029 0.2352 0.1138 5008 , , NA 16557 0.3304 NA 0.2227 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033014 CCDS9933.1 14q32.13 2012-10-02 ENSG00000165959 ENSG00000165959 79789 19972 protein-coding gene gene with protein product 611121 NA 11386753 Standard NM_024734 NA Approved FLJ12383, KIAA1188, KIAA0500 uc001yef.2 Q96JQ2 OTTHUMG00000171629 ENST00000298912.4:c.2840+438G>A chr14.hg19:g.95659747C>T NA B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2 hg19 CCDS9933.1 0.02 11.099885 GTAxTGT COVERED NOVEL CLMN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414518.2 1 9.265453 KEEP 0 1 32 42 1528 CC 1 1 0 - 15 60 533 0 0 35.141708 263 60 9956 380 ENST00000298912.4 0.053957 1 CLMN 79789 __UNKNOWN__ __UNKNOWN__ 14 95660981 95660981 __UNKNOWN__ Intron SNP A A G rs2282274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95660981A>G ENST00000298912.4 - 11 2822 NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) NA NA negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GGAGCTCTTCATGGCTCAGTT 0.463 NA A||| 757 0.151158 0.0968 0.0634 5008 , , NA 19471 0.3433 NA 0.0696 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 A 456,3950 218.7+/-236.7 19,418,1766 78 69 72 -8.4 0 14 dbSNP_100 72 659,7941 167.4+/-219.2 23,613,3664 no intron CLMN NM_024734.3 42,1031,5430 GG,GA,AA 7.6628,10.3495,8.573 95660981 1115,11891 2203 4300 6503 SO:0001627 intron_variant AB033014 CCDS9933.1 14q32.13 2012-10-02 ENSG00000165959 ENSG00000165959 79789 19972 protein-coding gene gene with protein product 611121 NA 11386753 Standard NM_024734 NA Approved FLJ12383, KIAA1188, KIAA0500 uc001yef.2 Q96JQ2 OTTHUMG00000171629 ENST00000298912.4:c.2709-48T>C chr14.hg19:g.95660981A>G NA B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2 hg19 CCDS9933.1 0.02 8.861871 TTCxTGG COVERED NOVEL CLMN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414518.2 0 8.726556 KEEP 0 0 0 29 909 AA 0.999997 0.999997 0 - 11 60 402 0 0 26.85869 193 60 7109 281 ENST00000298912.4 0.053922 1 SYNE3 161176 __UNKNOWN__ __UNKNOWN__ 14 95942002 95942002 __UNKNOWN__ Intron SNP C C T rs79224249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:95942002C>T ENST00000334258.5 - 1 159 SYNE3_ENST00000557275.1_Intron|SYNE3_ENST00000553340.1_Intron NM_152592.3 NP_689805.3 Q6ZMZ3 SYNE3_HUMAN spectrin repeat containing, nuclear envelope family member 3 NA NA cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993) actin filament binding (GO:0051015) breast(1)|endometrium(2)|lung(25) 28 TCTGAGGCCACGCCTCTGCAT 0.617 NA C||| 193 0.0385383 0.0008 0.1484 5008 , , NA 16469 0.0218 NA 0.0507 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 C 58,4348 0,58,2145 32 26 28 -6.2 0 14 dbSNP_132 28 459,8141 16,427,3857 no intron C14orf49 NM_152592.3 16,485,6002 TT,TC,CC 5.3372,1.3164,3.9751 95942002 517,12489 2203 4300 6503 SO:0001627 intron_variant AK098471 CCDS9935.1 14q32.13 2012-05-31 2012-05-31 2012-05-31 ENSG00000176438 ENSG00000176438 161176 19861 protein-coding gene gene with protein product 610861 chromosome 14 open reading frame 49 C14orf49 NA Standard NM_152592 NM_152592 NA Approved FLJ25605, NET53, Nesprin-3, Nesp3 uc001yei.4 Q6ZMZ3 OTTHUMG00000171632 ENST00000334258.5:c.144+12G>A chr14.hg19:g.95942002C>T NA A6H8H3|Q86SX5|Q8N7G8 hg19 CCDS9935.1 0.02 -0.324605 CCAxGCC COVERED NOVEL SYNE3-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000420529.2 0 7.22334 KEEP 0 0 0 24 844 CC 0.999909 0.83564 0 - 3 60 102 0 0 7.111486 34 60 1247 65 ENST00000334258.5 0.081081 0.835716 BDKRB2 624 __UNKNOWN__ __UNKNOWN__ 14 96708782 96708782 __UNKNOWN__ 3'UTR SNP A A T rs2069590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:96708782A>T ENST00000306005.3 + 0 2313 BDKRB2_ENST00000554311.1_3'UTR|BDKRB2_ENST00000542454.2_3'UTR|RP11-404P21.8_ENST00000553811.1_Intron|RP11-404P21.8_ENST00000555847.1_Intron NM_000623.3 NP_000614.1 P30411 BKRB2_HUMAN bradykinin receptor B2 NA NA arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311) endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) Icatibant(DB06196) gtgaggcatcattaCGCAGAC 0.448 NA A||| 1509 0.301318 0.2799 0.402 5008 , , NA 24080 0.4395 NA 0.2773 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant S56772 CCDS9942.1 14q32.1-q32.2 2012-08-08 ENSG00000168398 624 GPCR / Class A : Bradykinin receptors 1030 protein-coding gene gene with protein product 113503 NA 7916737 Standard NM_000623 NA Approved BK-2 uc010avm.1 P30411 ENST00000306005.3:c.*941A>T chr14.hg19:g.96708782A>T NA hg19 CCDS9942.1 0.02 6.530335 ATCxTTA COVERED NOVEL BDKRB2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413294.1 2 6.617515 KEEP 0 0 0 22 667 AA 0.999879 0.999879 0 + 7 60 259 0 0 16.917878 145 60 5304 202 ENST00000306005.3 0.046053 1 ATG2B 55102 __UNKNOWN__ __UNKNOWN__ 14 96749381 96749381 __UNKNOWN__ 3'UTR SNP A A T rs4900321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:96749381A>T ENST00000359933.4 - 0 9841 NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B NA NA autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804) extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CTAAAAGGCAATGTTCAGTGG 0.443 NA A||| 1410 0.28155 0.2451 0.4611 5008 , , NA 18489 0.1627 NA 0.4026 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001104 CCDS9944.2 14q32.31 2014-02-12 2012-06-06 2007-07-31 ENSG00000066739 ENSG00000066739 55102 20187 protein-coding gene gene with protein product chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae) C14orf103 NA 22350415 Standard NM_018036 NM_018036 NA Approved FLJ10242 uc001yfi.3 Q96BY7 OTTHUMG00000149933 ENST00000359933.4:c.*2711T>A chr14.hg19:g.96749381A>T NA Q6ZRE7|Q96DQ3|Q9NW80 hg19 CCDS9944.2 0.02 8.184767 GCAxTGT COVERED NOVEL ATG2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314037.1 2 15.948959 KEEP 0 0 0 53 1692 AA 1 1 0 - 9 60 319 0 0 20.011988 204 60 7395 322 ENST00000359933.4 0.042254 1 ATG2B 55102 __UNKNOWN__ __UNKNOWN__ 14 96777468 96777468 __UNKNOWN__ Missense_Mutation SNP G G C rs3759601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:96777468G>C ENST00000359933.4 - 28 5040 c.4147C>G c.(4147-4149)Caa>Gaa p.Q1383E ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 1383 NA Q -> E (in dbSNP:rs3759601). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804) extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GACCTTCTTTGAAAGGCTCCA 0.443 NA G||| 1251 0.2498 0.1142 0.4568 5008 , , NA 18272 0.1776 NA 0.4066 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 G GLU/GLN 755,3651 306.3+/-289.4 46,663,1494 183 172 176 4147 2.5 0 14 dbSNP_107 176 3634,4966 523.4+/-380.3 771,2092,1437 yes missense ATG2B NM_018036.5 29 817,2755,2931 CC,CG,GG 42.2558,17.1357,33.746 benign 1383/2079 96777468 4389,8617 2203 4300 6503 SO:0001583 missense AK001104 CCDS9944.2 14q32.31 2014-02-12 2012-06-06 2007-07-31 ENSG00000066739 ENSG00000066739 55102 20187 protein-coding gene gene with protein product chromosome 14 open reading frame 103, ATG2 autophagy related 2 homolog B (S. cerevisiae) C14orf103 NA 22350415 Standard NM_018036 NM_018036 NA Approved FLJ10242 uc001yfi.3 Q96BY7 OTTHUMG00000149933 ENST00000359933.4:c.4147C>G chr14.hg19:g.96777468G>C ENSP00000353010:p.Gln1383Glu NA Q6ZRE7|Q96DQ3|Q9NW80 hg19 CCDS9944.2 0.02 9.355596 TTTxAAA COVERED 645 0.29532967032967034 49 0.09959349593495935 160 0.4419889502762431 118 0.2062937062937063 318 0.41952506596306066 G 5.230 0.228002 0.09916 0.171357 0.422558 ENSG00000066739 ENST00000359933 T 0.44083 0.93 5.48 2.55 0.30701 . 0.681226 0.14654 N 0.306432 T 0.00012 0.0000 L 0.41236 1.265 0.80722 P 0.0 B 0.06786 0.001 B 0.09377 0.004 T 0.42616 -0.9441 9 0.02654 T 1 . 8.8268 0.35061 0.0:0.2187:0.3659:0.4154 rs3759601;rs52803484;rs3759601 1383 Q96BY7 ATG2B_HUMAN E 1383 ENSP00000353010:Q1383E ENSP00000261834:Q27E Q - 1 0 ATG2B 95847221 0.016000 0.18221 0.000000 0.03702 0.840000 0.47671 1.403000 0.34612 0.241000 0.21283 0.655000 0.94253 CAA NOVEL ATG2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314037.1 1 10.534184 KEEP 0 0 0 35 1219 GG 0.999999 0.999999 0 - 8 60 307 0 0 19.662303 208 60 7883 303 ENST00000359933.4 0.037037 1 RP11-204N11.1 0 __UNKNOWN__ __UNKNOWN__ 14 98216037 98216037 __UNKNOWN__ 3'UTR SNP A A G rs140967159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:98216037A>G ENST00000555187.1 - 0 2609 NA NA NA CGAGAACCAAACACGGAGGGC 0.458 NA A||| 4 0.000798722 0.0 0.0 5008 , , NA 20244 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000555187.1:c.*1934T>C chr14.hg19:g.98216037A>G NA hg19 0.02 6.969303 CAAxCAC COVERED NOVEL RP11-204N11.1-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000413580.1 1 5.715638 KEEP 0 0 0 19 569 AA 0.99986 0.99986 0 - 8 60 313 0 0 20.659487 185 60 6595 251 ENST00000555187.1 0.041451 1 RP11-1127D7.1 0 __UNKNOWN__ __UNKNOWN__ 14 99391711 99391711 __UNKNOWN__ lincRNA SNP A A G rs10130898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:99391711A>G ENST00000554025.1 - 0 1613 NA NA NA CCCATTGCTTAGGAGGCCCCT 0.423 NA A||| 337 0.0672923 0.2201 0.0187 5008 , , NA 17949 0.0238 NA 0.003 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000554025.1: chr14.hg19:g.99391711A>G NA hg19 0.02 7.703184 CTTxGGA COVERED NOVEL RP11-1127D7.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000413592.1 3 11.132614 KEEP 0 0 0 37 1131 AA 1 1 0 - 6 60 240 0 0 15.856713 148 60 5319 243 ENST00000554025.1 0.038961 1 EML1 2009 __UNKNOWN__ __UNKNOWN__ 14 100352375 100352375 __UNKNOWN__ Intron SNP C C T rs746698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:100352375C>T ENST00000262233.6 + 5 657 EML1_ENST00000334192.4_Intron|EML1_ENST00000327921.9_Intron NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 NA NA brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405) cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TCTCCAGCAACTTCTAAACAT 0.373 NA C||| 1261 0.251797 0.1014 0.3372 5008 , , NA 20094 0.4692 NA 0.1511 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023861 CCDS32154.1, CCDS32155.1 14q32 2013-01-10 2002-02-15 ENSG00000066629 2009 WD repeat domain containing 3330 protein-coding gene gene with protein product 602033 EMAPL NA 9226380, 10521658 Standard NM_001008707 XM_005267397 NA Approved EMAP, HuEMAP, ELP79 uc001ygr.3 O00423 ENST00000262233.6:c.519-5161C>T chr14.hg19:g.100352375C>T NA Q86U15|Q8N536|Q8N5C4|Q8WWL6 hg19 CCDS32155.1 0.02 14.158099 CAAxTTC COVERED NOVEL EML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413943.1 1 19.799539 KEEP 0 1 32 77 2797 CC 1 1 0 + 14 60 503 1 0 30.906588 369 60 14054 569 ENST00000262233.6 0.036554 1 EML1 2009 __UNKNOWN__ __UNKNOWN__ 14 100407381 100407381 __UNKNOWN__ 3'UTR SNP T T C rs1044631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:100407381T>C ENST00000262233.6 + 0 3519 EML1_ENST00000334192.4_3'UTR NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 NA NA brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405) cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CTCTCGAGCGTACCATAAACC 0.428 NA T||| 2213 0.441893 0.6626 0.415 5008 , , NA 19739 0.3849 NA 0.2833 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023861 CCDS32154.1, CCDS32155.1 14q32 2013-01-10 2002-02-15 ENSG00000066629 2009 WD repeat domain containing 3330 protein-coding gene gene with protein product 602033 EMAPL NA 9226380, 10521658 Standard NM_001008707 XM_005267397 NA Approved EMAP, HuEMAP, ELP79 uc001ygr.3 O00423 ENST00000262233.6:c.*932T>C chr14.hg19:g.100407381T>C NA Q86U15|Q8N536|Q8N5C4|Q8WWL6 hg19 CCDS32155.1 0.02 12.060242 GCGxACC COVERED NOVEL EML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000413943.1 4 6.785076 KEEP 0 2 61 44 1344 TT 1 1 0 + 10 60 387 0 0 24.88639 261 60 9195 386 ENST00000262233.6 0.0369 1 SLC25A29 123096 __UNKNOWN__ __UNKNOWN__ 14 100759277 100759277 __UNKNOWN__ Silent SNP C C T rs3742379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:100759277C>T ENST00000359232.3 - 4 555 c.255G>A c.(253-255)cgG>cgA p.R85R RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000555927.1_Silent_p.R19R|SLC25A29_ENST00000556505.1_Silent_p.R19R|SLC25A29_ENST00000539621.1_Silent_p.R19R|SLC25A29_ENST00000392908.3_Missense_Mutation_p.G71S|SLC25A29_ENST00000554912.1_Silent_p.R19R NM_001039355.1 NP_001034444.1 Q8N8R3 MCATL_HUMAN solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29 85 NA integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) acyl carnitine transmembrane transporter activity (GO:0015227) NS(1)|endometrium(1)|ovary(1) 3 Melanoma(154;0.152) L-Carnitine(DB00583) GGCCCAGGGCCCGGAGGGTGT 0.701 NA C||| 1400 0.279553 0.1876 0.2565 5008 , , NA 14810 0.5317 NA 0.3121 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 C 816,3446 90,636,1405 10 13 12 255 2 1 14 dbSNP_107 12 2498,5870 389,1720,2075 no coding-synonymous SLC25A29 NM_001039355.1 479,2356,3480 TT,TC,CC 29.8518,19.1459,26.2391 85/304 100759277 3314,9316 2131 4184 6315 SO:0001819 synonymous_variant AK095532 CCDS32156.1 14q32.2 2013-05-22 2012-03-29 2004-01-21 ENSG00000197119 ENSG00000197119 123096 Solute carriers 20116 protein-coding gene gene with protein product 615064 chromosome 14 open reading frame 69, solute carrier family 25, member 29 C14orf69 NA Standard XM_005267343 NA Approved FLJ38975 uc010twx.2 Q8N8R3 OTTHUMG00000171569 ENST00000359232.3:c.255G>A chr14.hg19:g.100759277C>T NA A3KMR5|Q541V0 hg19 CCDS32156.1 0.02 15.073239 GGCxCGG COVERED 697 0.3191391941391941 77 0.1565040650406504 90 0.24861878453038674 307 0.5367132867132867 223 0.2941952506596306 C 6.911 0.537720 0.13188 0.191459 0.298518 ENSG00000197119 ENST00000392908;ENST00000554060 . . . 4.99 1.99 0.26369 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.45775 -0.9238 4 0.87932 D 0 -41.4631 3.2678 0.06871 0.3516:0.3279:0.2417:0.0788 rs3742379 . . . S 71 . ENSP00000376640:G71S G - 1 0 SLC25A29 99829030 0.824000 0.29247 0.983000 0.44433 0.355000 0.29361 0.082000 0.14847 0.111000 0.17947 -0.302000 0.09304 GGC NOVEL SLC25A29-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000072449.3 3 61.693653 KEEP 0 0 0 205 7129 CC 1 1 0 - 15 60 531 0 0 32.818066 366 60 13237 766 ENST00000359232.3 0.03937 1 SLC25A47 283600 __UNKNOWN__ __UNKNOWN__ 14 100795625 100795625 __UNKNOWN__ Intron SNP G G A rs45602334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:100795625G>A ENST00000361529.3 + 6 724 SLC25A47_ENST00000557052.1_Intron NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 NA NA transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 AGGACGGGCCGGAAGCGTGAG 0.622 NA G||| 229 0.0457268 0.0507 0.0101 5008 , , NA 18425 0.1081 NA 0.0249 False NA ,,, NA NA NA 2504 0.0215 NA NA NA GBM(11;1289 1351) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS9959.1 14q32.2 2013-05-22 2010-07-19 2010-07-19 ENSG00000140107 ENSG00000140107 283600 Solute carriers 20115 protein-coding gene gene with protein product 609911 chromosome 14 open reading frame 68 C14orf68 NA Standard NM_207117 NA Approved uc001yhc.3 Q6Q0C1 OTTHUMG00000171571 ENST00000361529.3:c.647-77G>A chr14.hg19:g.100795625G>A NA B2RP39|Q68CL2|Q6PZD8|Q86U14 hg19 CCDS9959.1 0.02 1.7362 GCCxGAA COVERED NOVEL SLC25A47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414231.1 0 3.009059 KEEP 0 0 0 10 317 GG 0.992708 0.992388 0 + 6 60 210 0 0 14.456906 79 60 2557 103 ENST00000361529.3 0.070588 0.999678 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 101492548 101492548 __UNKNOWN__ IGR SNP C C T rs12586258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:101492548C>T NA NA MIR758 (104 upstream) : MIR329-1 (573 downstream) NA NA NA ATCTGCGAGGCGTTTGCGACA 0.493 NA C||| 1198 0.239217 0.0408 0.2752 5008 , , NA 22045 0.4425 NA 0.2575 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.101492548C>T NA hg19 0.02 4.161049 AGGxGTT COVERED NOVEL 0 1 5.71809 KEEP 0 0 0 19 630 CC 0.99986 0.99986 0 11 60 407 0 0 28.878869 139 60 4496 179 0.073333 1 PPP2R5C 5527 __UNKNOWN__ __UNKNOWN__ 14 102232699 102232699 __UNKNOWN__ 3'UTR SNP C C T rs143490389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102232699C>T ENST00000556260.2 + 0 1326 PPP2R5C_ENST00000554442.1_Intron|PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000556068.1_Intron Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma NA NA DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 atgatgtcacctaacttgtgt 0.368 NA C||| 190 0.0379393 0.0 0.1974 5008 , , NA 21121 0.0476 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L42375 CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1 14q32.31 2010-06-18 2010-04-14 ENSG00000078304 ENSG00000078304 5527 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9311 protein-coding gene gene with protein product 601645 protein phosphatase 2, regulatory subunit B (B56), gamma isoform, protein phosphatase 2, regulatory subunit B', gamma isoform NA 7592815 Standard NM_002719 NM_002719 NA Approved B56G, PR61G uc001ykk.3 Q13362 ENST00000556260.2:c.*1095C>T chr14.hg19:g.102232699C>T NA B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33 hg19 0.02 8.938691 CACxTAA COVERED NOVEL PPP2R5C-014 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000414361.2 0 14.146129 KEEP 0 0 0 47 1702 CC 1 1 0 + 8 60 299 0 0 18.830103 210 60 7956 317 ENST00000556260.2 0.036697 1 PPP2R5C 5527 __UNKNOWN__ __UNKNOWN__ 14 102322996 102322996 __UNKNOWN__ Intron SNP C C G rs3742421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102322996C>G ENST00000334743.5 + 2 142 PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000445439.3_Intron|PPP2R5C_ENST00000557095.1_Intron|PPP2R5C_ENST00000350249.3_Intron NM_002719.3 NP_002710.2 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma NA NA DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CTTTTGTGATCAATATACTTT 0.358 NA C||| 725 0.144768 0.18 0.2262 5008 , , NA 19942 0.1637 NA 0.0994 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 C ,,,, 746,3660 307.2+/-289.9 61,624,1518 126 119 121 ,,,, 2.8 0 14 dbSNP_107 121 968,7632 211.3+/-251.9 59,850,3391 no intron,intron,intron,intron,intron PPP2R5C NM_001161725.1,NM_001161726.1,NM_002719.3,NM_178586.2,NM_178587.2 ,,,, 120,1474,4909 GG,GC,CC 11.2558,16.9315,13.1785 ,,,, ,,,, 102322996 1714,11292 2203 4300 6503 SO:0001627 intron_variant L42375 CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1 14q32.31 2010-06-18 2010-04-14 ENSG00000078304 ENSG00000078304 5527 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9311 protein-coding gene gene with protein product 601645 protein phosphatase 2, regulatory subunit B (B56), gamma isoform, protein phosphatase 2, regulatory subunit B', gamma isoform NA 7592815 Standard NM_002719 NM_002719 NA Approved B56G, PR61G uc001ykk.3 Q13362 ENST00000334743.5:c.95-27C>G chr14.hg19:g.102322996C>G NA B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33 hg19 CCDS9964.1 0.02 13.948243 GATxAAT COVERED NOVEL PPP2R5C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414373.2 4 22.269815 KEEP 0 0 0 74 2514 CC 1 1 0 + 13 60 494 0 0 31.853442 315 60 11873 462 ENST00000334743.5 0.039634 1 PPP2R5C 5527 __UNKNOWN__ __UNKNOWN__ 14 102359489 102359489 __UNKNOWN__ Intron SNP A A G rs2720219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102359489A>G ENST00000334743.5 + 7 846 PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000445439.3_Intron|PPP2R5C_ENST00000557095.1_Intron|PPP2R5C_ENST00000350249.3_Intron NM_002719.3 NP_002710.2 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma NA NA DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TTGGCATTTGATCAGGATTGA 0.448 NA A||| 1531 0.305711 0.6104 0.1787 5008 , , NA 17185 0.2758 NA 0.1461 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 A ,,,, 2446,1960 611.7+/-391.8 684,1078,441 41 37 38 ,,,, -0.2 0 14 dbSNP_100 38 1398,7200 266.5+/-286.8 129,1140,3030 no intron,intron,intron,intron,intron PPP2R5C NM_001161725.1,NM_001161726.1,NM_002719.3,NM_178586.2,NM_178587.2 ,,,, 813,2218,3471 GG,GA,AA 16.2596,44.4848,29.5601 ,,,, ,,,, 102359489 3844,9160 2203 4299 6502 SO:0001627 intron_variant L42375 CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1 14q32.31 2010-06-18 2010-04-14 ENSG00000078304 ENSG00000078304 5527 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9311 protein-coding gene gene with protein product 601645 protein phosphatase 2, regulatory subunit B (B56), gamma isoform, protein phosphatase 2, regulatory subunit B', gamma isoform NA 7592815 Standard NM_002719 NM_002719 NA Approved B56G, PR61G uc001ykk.3 Q13362 ENST00000334743.5:c.798+44A>G chr14.hg19:g.102359489A>G NA B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33 hg19 CCDS9964.1 0.02 16.58173 TTGxTCA COVERED NOVEL PPP2R5C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414373.2 0 29.188191 KEEP 0 0 0 97 3085 AA 1 1 0 + 12 60 454 0 0 28.331516 345 60 12749 586 ENST00000334743.5 0.033613 1 PPP2R5C 5527 __UNKNOWN__ __UNKNOWN__ 14 102360745 102360745 __UNKNOWN__ Intron SNP T T C rs7142002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102360745T>C ENST00000334743.5 + 8 846 PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000445439.3_Intron|PPP2R5C_ENST00000557095.1_Intron|PPP2R5C_ENST00000350249.3_Intron NM_002719.3 NP_002710.2 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma NA NA DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159) protein phosphatase type 2A regulator activity (GO:0008601) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CCGTGGGTCCTTGTCTTGCTG 0.368 NA T||| 565 0.112819 0.2262 0.0504 5008 , , NA 20082 0.1687 NA 0.0358 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L42375 CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1 14q32.31 2010-06-18 2010-04-14 ENSG00000078304 ENSG00000078304 5527 Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits 9311 protein-coding gene gene with protein product 601645 protein phosphatase 2, regulatory subunit B (B56), gamma isoform, protein phosphatase 2, regulatory subunit B', gamma isoform NA 7592815 Standard NM_002719 NM_002719 NA Approved B56G, PR61G uc001ykk.3 Q13362 ENST00000334743.5:c.799-99T>C chr14.hg19:g.102360745T>C NA B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33 hg19 CCDS9964.1 0.02 12.130694 TCCxTGT COVERED NOVEL PPP2R5C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414373.2 1 20.761082 KEEP 0 0 0 69 2184 TT 1 1 0 + 9 60 358 0 0 23.066858 254 60 9461 412 ENST00000334743.5 0.034221 1 ZNF839 55778 __UNKNOWN__ __UNKNOWN__ 14 102792386 102792386 __UNKNOWN__ Missense_Mutation SNP T T C rs7158731 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102792386T>C ENST00000442396.2 + 2 368 c.353T>C c.(352-354)cTc>cCc p.L118P ZNF839_ENST00000262236.5_Missense_Mutation_p.L2P|ZNF839_ENST00000558850.1_Missense_Mutation_p.L2P|ZNF839_ENST00000559185.1_Missense_Mutation_p.L2P A8K0R7 ZN839_HUMAN zinc finger protein 839 2 NA metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AGGCCAATGCTCCTACCGACC 0.522 NA C||| 2096 0.41853 0.73 0.4179 5008 , , NA 17991 0.3403 NA 0.171 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 C PRO/LEU 2401,1441 734,933,254 36 42 40 353 4.2 0 14 dbSNP_116 40 1417,6883 129,1159,2862 yes missense ZNF839 NM_018335.3 98 863,2092,3116 CC,CT,TT 17.0723,37.5065,31.4446 benign 118/928 102792386 3818,8324 1921 4150 6071 SO:0001583 missense AK093342 CCDS45164.1, CCDS58336.1 14q32.32 2010-05-06 2008-06-23 2008-06-23 ENSG00000022976 ENSG00000022976 55778 20345 protein-coding gene gene with protein product chromosome 14 open reading frame 131 C14orf131 NA Standard NM_018335 NM_018335 NA Approved uc010awk.2 A8K0R7 ENST00000442396.2:c.353T>C chr14.hg19:g.102792386T>C ENSP00000399863:p.Leu118Pro NA B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3 hg19 CCDS45164.1 0.02 32.251133 TGCxCCT COVERED 813 0.37225274725274726 348 0.7073170731707317 152 0.4198895027624309 200 0.34965034965034963 113 0.14907651715039577 C 4.460 0.085278 0.08583 0.624935 0.170723 ENSG00000022976 ENST00000442396;ENST00000262236 T;T 0.22539 2.37;1.95 5.05 4.15 0.48705 . . . . . T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.40794 -0.9544 8 0.02654 T 1 . 8.822 0.35032 0.1473:0.7766:0.0:0.0762 rs7158731;rs52836998;rs57254003;rs7158731 118;2;2 A8K0R7-5;A8K0R7-2;A8K0R7 .;.;ZN839_HUMAN P 118;2 ENSP00000399863:L118P;ENSP00000262236:L2P ENSP00000262236:L2P L + 2 0 ZNF839 101862139 0.003000 0.15002 0.003000 0.11579 0.011000 0.07611 1.518000 0.35877 0.549000 0.28973 -0.234000 0.12200 CTC NOVEL ZNF839-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415560.1 2 43.63082 KEEP 0 0 0 145 4569 TT 1 1 0 + 37 60 1325 0 0 86.239482 712 60 25592 1148 ENST00000442396.2 0.049399 1 ZNF839 55778 __UNKNOWN__ __UNKNOWN__ 14 102792631 102792631 __UNKNOWN__ Missense_Mutation SNP G G A rs7158139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102792631G>A ENST00000442396.2 + 2 613 c.598G>A c.(598-600)Gat>Aat p.D200N ZNF839_ENST00000262236.5_Missense_Mutation_p.D84N|ZNF839_ENST00000558850.1_Missense_Mutation_p.D84N|ZNF839_ENST00000559185.1_Missense_Mutation_p.D84N A8K0R7 ZN839_HUMAN zinc finger protein 839 84 NA metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CAAGGCTCCAGATGAACAGGG 0.537 NA A||| 2094 0.418131 0.73 0.415 5008 , , NA 17657 0.3403 NA 0.171 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 A ASN/ASP 2371,1407 726,919,244 30 31 30 598 -6.3 0 14 dbSNP_116 30 1401,6823 129,1143,2840 yes missense ZNF839 NM_018335.3 23 855,2062,3084 AA,AG,GG 17.0355,37.2419,31.4281 benign 200/928 102792631 3772,8230 1889 4112 6001 SO:0001583 missense AK093342 CCDS45164.1, CCDS58336.1 14q32.32 2010-05-06 2008-06-23 2008-06-23 ENSG00000022976 ENSG00000022976 55778 20345 protein-coding gene gene with protein product chromosome 14 open reading frame 131 C14orf131 NA Standard NM_018335 NM_018335 NA Approved uc010awk.2 A8K0R7 ENST00000442396.2:c.598G>A chr14.hg19:g.102792631G>A ENSP00000399863:p.Asp200Asn NA B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3 hg19 CCDS45164.1 0.02 11.429309 CCAxATG COVERED 811 0.37133699633699635 348 0.7073170731707317 150 0.4143646408839779 200 0.34965034965034963 113 0.14907651715039577 A 0.964 -0.702287 0.03255 0.627581 0.170355 ENSG00000022976 ENST00000442396;ENST00000262236 T;T 0.35605 1.3;1.3 5.08 -6.29 0.02013 . 1.489540 0.06200 N 0.683141 T 0.00012 0.0000 N 0.01705 -0.755 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.32745 -0.9895 9 0.02654 T 1 . 6.9775 0.24683 0.3301:0.3395:0.3304:0.0 rs7158139;rs52827842;rs7158139 200;84;84 A8K0R7-5;A8K0R7-2;A8K0R7 .;.;ZN839_HUMAN N 200;84 ENSP00000399863:D200N;ENSP00000262236:D84N ENSP00000262236:D84N D + 1 0 ZNF839 101862384 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.150000 0.10189 -2.202000 0.00745 -3.173000 0.00056 GAT NOVEL ZNF839-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415560.1 3 26.486811 KEEP 0 0 0 88 3184 GG 1 1 0 + 19 60 693 0 0 48.059413 266 60 10101 449 ENST00000442396.2 0.066667 1 ZNF839 55778 __UNKNOWN__ __UNKNOWN__ 14 102798055 102798055 __UNKNOWN__ Missense_Mutation SNP G G A rs1543540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:102798055G>A ENST00000442396.2 + 3 1303 c.1288G>A c.(1288-1290)Gca>Aca p.A430T ZNF839_ENST00000262236.5_Missense_Mutation_p.A314T|ZNF839_ENST00000558850.1_Missense_Mutation_p.A314T|ZNF839_ENST00000559185.1_Missense_Mutation_p.A314T A8K0R7 ZN839_HUMAN zinc finger protein 839 314 NA metal ion binding (GO:0046872) breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TAGAAGACGCGCATGCTCAGA 0.557 NA G||| 837 0.167133 0.118 0.3026 5008 , , NA 19197 0.2986 NA 0.0586 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 G THR/ALA 462,3548 19,424,1562 50 50 50 1288 -2.8 0 14 dbSNP_88 50 434,7914 10,414,3750 yes missense ZNF839 NM_018335.3 58 29,838,5312 AA,AG,GG 5.1989,11.5212,7.2504 benign 430/928 102798055 896,11462 2005 4174 6179 SO:0001583 missense AK093342 CCDS45164.1, CCDS58336.1 14q32.32 2010-05-06 2008-06-23 2008-06-23 ENSG00000022976 ENSG00000022976 55778 20345 protein-coding gene gene with protein product chromosome 14 open reading frame 131 C14orf131 NA Standard NM_018335 NM_018335 NA Approved uc010awk.2 A8K0R7 ENST00000442396.2:c.1288G>A chr14.hg19:g.102798055G>A ENSP00000399863:p.Ala430Thr NA B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3 hg19 CCDS45164.1 0.02 10.798558 CGCxCAT COVERED 363 0.1662087912087912 53 0.10772357723577236 97 0.26795580110497236 171 0.29895104895104896 42 0.055408970976253295 G 3.844 -0.033262 0.07543 0.115212 0.051989 ENSG00000022976 ENST00000442396;ENST00000262236 T;T 0.39056 1.1;1.1 4.13 -2.76 0.05896 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.33904 0.0;0.17;0.431 B;B;B 0.19666 0.0;0.018;0.026 T 0.34750 -0.9816 8 0.35671 T 0.21 . 1.5751 0.02623 0.3581:0.1337:0.3721:0.1361 rs1543540;rs52794481;rs56485477;rs57392489;rs1543540 430;193;314 A8K0R7-5;Q9NT83;A8K0R7 .;.;ZN839_HUMAN T 430;314 ENSP00000399863:A430T;ENSP00000262236:A314T ENSP00000262236:A314T A + 1 0 ZNF839 101867808 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.118000 0.10692 -0.558000 0.06118 -1.147000 0.01851 GCA NOVEL ZNF839-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415560.1 2 28.016934 KEEP 0 1 31 104 3575 GG 1 1 0 + 10 60 312 0 0 18.19405 257 60 9196 463 ENST00000442396.2 0.037453 1 EXOC3L4 91828 __UNKNOWN__ __UNKNOWN__ 14 103566904 103566904 __UNKNOWN__ Silent SNP G G A rs1057640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:103566904G>A ENST00000380069.3 + 1 424 c.348G>A c.(346-348)caG>caA p.Q116Q NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 116 NA exocytosis (GO:0006887) exocyst (GO:0000145) cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 GTGTCAGCCAGCAGGCATCCA 0.612 NA G||| 1017 0.203075 0.0787 0.3055 5008 , , NA 17369 0.3433 NA 0.1531 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 G 364,4042 176.6+/-205.7 18,328,1857 23 23 23 348 3.1 0 14 dbSNP_86 23 1304,7296 237.5+/-269.3 122,1060,3118 no coding-synonymous EXOC3L4 NM_001077594.1 140,1388,4975 AA,AG,GG 15.1628,8.2615,12.8249 116/723 103566904 1668,11338 2203 4300 6503 SO:0001819 synonymous_variant AK000671 CCDS32163.1 14q32.32 2011-01-31 2011-01-31 2011-01-31 ENSG00000205436 ENSG00000205436 91828 20120 protein-coding gene gene with protein product chromosome 14 open reading frame 73 C14orf73 NA Standard XM_941093 NM_001077594 NA Approved uc001ymk.3 Q17RC7 ENST00000380069.3:c.348G>A chr14.hg19:g.103566904G>A NA Q14CR2 hg19 CCDS32163.1 0.02 6.634103 CCAxCAG COVERED NOVEL EXOC3L4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415663.1 0 9.631883 KEEP 0 0 0 32 1179 GG 0.999997 0.999997 0 + 7 60 243 0 0 15.135518 156 60 5817 231 ENST00000380069.3 0.042945 1 EXOC3L4 91828 __UNKNOWN__ __UNKNOWN__ 14 103568729 103568729 __UNKNOWN__ Silent SNP A A G rs10142200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:103568729A>G ENST00000380069.3 + 2 745 c.669A>G c.(667-669)gaA>gaG p.E223E NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 223 NA exocytosis (GO:0006887) exocyst (GO:0000145) cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 CGGAGGAGGAAGCCCACCCTT 0.756 NA G||| 2646 0.528355 0.5666 0.5303 5008 , , NA 12079 0.6042 NA 0.3917 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 G 2098,2000 603,892,554 5 5 5 669 2.5 0.8 14 dbSNP_119 5 2949,5055 663,1623,1716 no coding-synonymous EXOC3L4 NM_001077594.1 1266,2515,2270 GG,GA,AA 36.8441,48.8043,41.7039 223/723 103568729 5047,7055 2049 4002 6051 SO:0001819 synonymous_variant AK000671 CCDS32163.1 14q32.32 2011-01-31 2011-01-31 2011-01-31 ENSG00000205436 ENSG00000205436 91828 20120 protein-coding gene gene with protein product chromosome 14 open reading frame 73 C14orf73 NA Standard XM_941093 NM_001077594 NA Approved uc001ymk.3 Q17RC7 ENST00000380069.3:c.669A>G chr14.hg19:g.103568729A>G NA Q14CR2 hg19 CCDS32163.1 0.02 6.921265 GGAxGCC COVERED NOVEL EXOC3L4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415663.1 1 21.360601 KEEP 0 0 0 71 2154 AA 1 1 0 + 9 60 294 0 0 18.304793 167 60 5875 318 ENST00000380069.3 0.051136 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 103576775 103576775 __UNKNOWN__ IGR SNP C C T rs3870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:103576775C>T NA NA EXOC3L4 (167 upstream) : LINC00677 (10408 downstream) NA NA NA GTTTTGGGGCCGCAGAGCTCT 0.582 NA C||| 914 0.182508 0.0136 0.3069 5008 , , NA 14146 0.3442 NA 0.1412 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.103576775C>T NA hg19 0.02 6.304907 GGCxGCA COVERED NOVEL 0 0 28.525228 KEEP 0 0 0 95 3076 CC 1 1 0 8 60 275 0 0 17.180745 170 60 5697 356 0.044944 1 MARK3 4140 __UNKNOWN__ __UNKNOWN__ 14 103915226 103915226 __UNKNOWN__ Intron SNP A A G rs58490269|rs398044089|rs80102122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:103915226A>G ENST00000429436.2 + 4 807 MARK3_ENST00000440884.3_Intron|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Intron|MARK3_ENST00000216288.7_Intron|MARK3_ENST00000335102.5_Intron|MARK3_ENST00000416682.2_Intron|MARK3_ENST00000553942.1_Intron NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 NA NA plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TGTTGGGGGGATTATGTGTTT 0.249 NA NA NA NA NA NA NA NA NA NA NA 0 A ,,,, 54,3512 16,22,1745 63 58 60 ,,,, -1.7 0 14 dbSNP_131 60 795,7247 257,281,3483 no intron,intron,intron,intron,intron MARK3 NM_001128918.1,NM_001128919.1,NM_001128920.1,NM_001128921.1,NM_002376.5 ,,,, 273,303,5228 GG,GA,AA 9.8856,1.5143,7.3139 ,,,, ,,,, 103915226 849,10759 1783 4021 5804 SO:0001627 intron_variant M80359 CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1 14q32.32 2014-04-07 ENSG00000075413 ENSG00000075413 4140 6897 protein-coding gene gene with protein product 602678 NA 9533022 Standard NM_001128918 NM_002376 NA Approved CTAK1, KP78, PAR-1A uc001ymz.4 P27448 OTTHUMG00000171789 ENST00000429436.2:c.298-30A>G chr14.hg19:g.103915226A>G NA O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34 hg19 CCDS45165.1 0.02 4.879115 GGGxTTA COVERED NOVEL MARK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415144.1 1 10.460799 KEEP 0 0 0 35 938 AA 0.999999 0.999995 0 + 8 60 298 0 0 21.088188 105 60 2862 189 ENST00000429436.2 0.070796 0.999996 MARK3 4140 __UNKNOWN__ __UNKNOWN__ 14 103918182 103918182 __UNKNOWN__ Intron SNP G G C rs2273702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:103918182G>C ENST00000429436.2 + 5 856 MARK3_ENST00000440884.3_Intron|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Intron|MARK3_ENST00000216288.7_Intron|MARK3_ENST00000335102.5_Intron|MARK3_ENST00000416682.2_Intron|MARK3_ENST00000553942.1_Intron NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 NA NA plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TTCATAGTTAGAGTTTATATG 0.363 NA C||| 2684 0.535942 0.4319 0.6225 5008 , , NA 19239 0.501 NA 0.7018 False NA ,,, NA NA NA 2504 0.4806 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M80359 CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1 14q32.32 2014-04-07 ENSG00000075413 ENSG00000075413 4140 6897 protein-coding gene gene with protein product 602678 NA 9533022 Standard NM_001128918 NM_002376 NA Approved CTAK1, KP78, PAR-1A uc001ymz.4 P27448 OTTHUMG00000171789 ENST00000429436.2:c.347-73G>C chr14.hg19:g.103918182G>C NA O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34 hg19 CCDS45165.1 0.02 6.962709 TTAxAGT COVERED NOVEL MARK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415144.1 1 5.190265 KEEP 0 2 74 43 1556 GG 1 1 0 + 7 60 268 0 0 17.45125 164 60 6336 266 ENST00000429436.2 0.040936 1 TRMT61A 115708 __UNKNOWN__ __UNKNOWN__ 14 103996205 103996205 __UNKNOWN__ Intron SNP T T C rs2296487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:103996205T>C ENST00000389749.4 + 2 78 NM_152307.2 NP_689520.2 Q96FX7 TRM61_HUMAN tRNA methyltransferase 61 homolog A (S. cerevisiae) NA NA nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515) tRNA (adenine-N1-)-methyltransferase activity (GO:0016429) skin(1) 1 TGCTGGGATGTAGGCCTCGAA 0.632 NA T||| 1002 0.20008 0.0424 0.3228 5008 , , NA 18201 0.3175 NA 0.2704 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097771 CCDS41994.1 14q32 2009-01-09 2009-01-09 2009-01-09 ENSG00000166166 115708 23790 protein-coding gene gene with protein product chromosome 14 open reading frame 172 C14orf172 NA 16043508 Standard NM_152307 NM_152307 NA Approved FLJ40452, GCD14, Gcd14p, hTRM61 uc010aws.3 Q96FX7 ENST00000389749.4:c.-29-82T>C chr14.hg19:g.103996205T>C NA A6NN78|Q8N7Q9 hg19 CCDS41994.1 0.02 2.127667 ATGxAGG COVERED NOVEL TRMT61A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414988.1 2 16.845303 KEEP 0 0 0 56 1621 TT 1 0.999956 0 + 5 60 190 1 0 12.811688 93 60 3261 193 ENST00000389749.4 0.05102 0.999956 TRMT61A 115708 __UNKNOWN__ __UNKNOWN__ 14 104001847 104001847 __UNKNOWN__ 3'UTR SNP C C T rs79958358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104001847C>T ENST00000389749.4 + 0 1666 NM_152307.2 NP_689520.2 Q96FX7 TRM61_HUMAN tRNA methyltransferase 61 homolog A (S. cerevisiae) NA NA nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515) tRNA (adenine-N1-)-methyltransferase activity (GO:0016429) skin(1) 1 GGGCTGCACTCGCTGAGGCCA 0.662 NA c||| 287 0.0573083 0.0 0.0605 5008 , , NA 16510 0.2371 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097771 CCDS41994.1 14q32 2009-01-09 2009-01-09 2009-01-09 ENSG00000166166 115708 23790 protein-coding gene gene with protein product chromosome 14 open reading frame 172 C14orf172 NA 16043508 Standard NM_152307 NM_152307 NA Approved FLJ40452, GCD14, Gcd14p, hTRM61 uc010aws.3 Q96FX7 ENST00000389749.4:c.*689C>T chr14.hg19:g.104001847C>T NA A6NN78|Q8N7Q9 hg19 CCDS41994.1 0.02 4.290091 ACTxGCT COVERED NOVEL TRMT61A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414988.1 1 10.832398 KEEP 0 0 0 36 1142 CC 0.999999 0.999967 0 + 5 60 185 0 0 12.245059 96 60 3205 150 ENST00000389749.4 0.049505 0.999968 TRMT61A 115708 __UNKNOWN__ __UNKNOWN__ 14 104002234 104002234 __UNKNOWN__ 3'UTR SNP G G A rs7161305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104002234G>A ENST00000389749.4 + 0 2053 NM_152307.2 NP_689520.2 Q96FX7 TRM61_HUMAN tRNA methyltransferase 61 homolog A (S. cerevisiae) NA NA nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515) tRNA (adenine-N1-)-methyltransferase activity (GO:0016429) skin(1) 1 TGGAGCTGCCGCTGGTGCCTA 0.672 NA G||| 965 0.192692 0.0439 0.3127 5008 , , NA 17255 0.2927 NA 0.2694 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK097771 CCDS41994.1 14q32 2009-01-09 2009-01-09 2009-01-09 ENSG00000166166 115708 23790 protein-coding gene gene with protein product chromosome 14 open reading frame 172 C14orf172 NA 16043508 Standard NM_152307 NM_152307 NA Approved FLJ40452, GCD14, Gcd14p, hTRM61 uc010aws.3 Q96FX7 ENST00000389749.4:c.*1076G>A chr14.hg19:g.104002234G>A NA A6NN78|Q8N7Q9 hg19 CCDS41994.1 0.02 8.413812 GCCxCTG COVERED NOVEL TRMT61A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414988.1 1 17.690509 KEEP 0 1 29 69 2357 GG 1 1 0 + 8 60 279 0 0 16.493137 236 60 7851 345 ENST00000389749.4 0.032787 1 BAG5 9529 __UNKNOWN__ __UNKNOWN__ 14 104027557 104027557 __UNKNOWN__ Intron SNP C C T rs11625397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104027557C>T ENST00000445922.2 - 2 219 BAG5_ENST00000299204.4_Intron|BAG5_ENST00000337322.4_Intron|RP11-894P9.2_ENST00000556332.1_RNA NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 NA NA negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083) inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625) endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) TGATAACTTACTACAGCACAA 0.373 NA T||| 2616 0.522364 0.5756 0.572 5008 , , NA 21785 0.4673 NA 0.6412 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NSCLC(171;1832 2055 18950 31566 41632) NA 0 T ,, 2552,1800 752,1048,376 39 43 42 ,, -0.3 0 14 dbSNP_120 42 5501,2909 1852,1797,556 no intron,intron,intron BAG5 NM_001015048.2,NM_001015049.2,NM_004873.3 ,, 2604,2845,932 TT,TC,CC 34.5898,41.3603,36.8986 ,, ,, 104027557 8053,4709 2176 4205 6381 SO:0001627 intron_variant AF095195 CCDS9982.1, CCDS41995.1 14q32 2008-08-01 ENSG00000166170 9529 941 protein-coding gene gene with protein product 603885 NA 9873016, 15603737 Standard NM_001015048 NA Approved uc001ynh.2 Q9UL15 ENST00000445922.2:c.28-28G>A chr14.hg19:g.104027557C>T NA O94950|Q86W59 hg19 CCDS9982.1 0.02 27.085937 TTAxTAC COVERED NOVEL BAG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414990.1 2 48.430311 KEEP 0 2 66 184 6686 CC 1 1 0 - 26 60 934 0 0 58.108079 642 60 24610 1052 ENST00000445922.2 0.038922 1 BAG5 9529 __UNKNOWN__ __UNKNOWN__ 14 104027595 104027595 __UNKNOWN__ Intron SNP T T G rs34186780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104027595T>G ENST00000445922.2 - 2 219 BAG5_ENST00000299204.4_Intron|BAG5_ENST00000337322.4_Intron|RP11-894P9.2_ENST00000556332.1_RNA NM_004873.3 NP_004864.1 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 NA NA negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083) inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625) endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 24 Melanoma(154;0.155) Epithelial(46;0.144) AATGGTATATTAAGTCATTCT 0.403 NA T||| 1110 0.221645 0.1082 0.3271 5008 , , NA 19720 0.3502 NA 0.2624 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NSCLC(171;1832 2055 18950 31566 41632) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF095195 CCDS9982.1, CCDS41995.1 14q32 2008-08-01 ENSG00000166170 9529 941 protein-coding gene gene with protein product 603885 NA 9873016, 15603737 Standard NM_001015048 NA Approved uc001ynh.2 Q9UL15 ENST00000445922.2:c.28-66A>C chr14.hg19:g.104027595T>G NA O94950|Q86W59 hg19 CCDS9982.1 0.02 19.912594 TATxAAG COVERED NOVEL BAG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414990.1 1 23.438508 KEEP 0 2 72 103 3193 TT 1 1 0 - 13 60 497 0 0 30.152359 452 60 16134 657 ENST00000445922.2 0.027957 1 RP11-73M18.2 0 __UNKNOWN__ __UNKNOWN__ 14 104029449 104029449 __UNKNOWN__ Silent SNP G G A rs2274267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104029449G>A ENST00000472726.2 + 1 151 c.150G>A c.(148-150)acG>acA p.T50T APOPT1_ENST00000556253.2_Silent_p.T37T|APOPT1_ENST00000247618.4_Silent_p.T37T|APOPT1_ENST00000409074.2_Silent_p.T50T NA NA NA GCAGGGATACGGCGCCCAGCG 0.716 NA G||| 1108 0.221246 0.1074 0.3343 5008 , , NA 12360 0.3512 NA 0.2624 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 G 557,3355 49,459,1448 4 6 5 150 -0.9 0.2 14 dbSNP_100 5 2012,5966 304,1404,2281 no coding-synonymous APOPT1 NM_032374.3 353,1863,3729 AA,AG,GG 25.2194,14.2382,21.6064 50/207 104029449 2569,9321 1956 3989 5945 SO:0001819 synonymous_variant NA NA NA NA ENST00000472726.2:c.150G>A chr14.hg19:g.104029449G>A NA hg19 0.02 3.98334 TACxGCG COVERED 553 0.2532051282051282 49 0.09959349593495935 118 0.3259668508287293 189 0.3304195804195804 197 0.2598944591029024 G 6.245 0.413378 0.11812 0.142382 0.252194 ENSG00000256053 ENST00000440963 . . . 3.37 -0.865 0.10662 . . . . . T 0.00012 0.0000 . . . 0.53005 P 3.2999999999949736E-5 . . . . . . T 0.40213 -0.9575 4 0.09843 T 0.71 . 0.9102 0.01293 0.2249:0.1788:0.4131:0.1831 rs2274267;rs17095256;rs28362582 . . . S 50 . ENSP00000388067:G50S G + 1 0 C14orf153 103099202 0.296000 0.24398 0.214000 0.23707 0.083000 0.17756 -0.397000 0.07269 -0.499000 0.06623 -0.140000 0.14226 GGC NOVEL RP11-73M18.2-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000402943.1 1 36.449903 KEEP 0 1 31 132 4524 GG 1 1 0 + 9 60 289 0 0 18.954221 127 60 4413 375 ENST00000472726.2 0.066176 1 KLC1 3831 __UNKNOWN__ __UNKNOWN__ 14 104135966 104135966 __UNKNOWN__ Intron SNP A A G rs12896171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104135966A>G ENST00000445352.4 + 6 1078 KLC1_ENST00000246489.7_Intron|KLC1_ENST00000555836.1_Intron|RP11-73M18.2_ENST00000472726.2_Intron|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000348520.6_Intron|KLC1_ENST00000553286.1_Intron|KLC1_ENST00000380038.3_Intron|KLC1_ENST00000557575.1_Intron|KLC1_ENST00000389744.4_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000452929.2_Intron NM_005552.4 NP_005543.2 Q07866 KLC1_HUMAN kinesin light chain 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874) microtubule motor activity (GO:0003777)|motor activity (GO:0003774) KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) CATTCTTTTAATATTTTATTT 0.368 NA A||| 1224 0.244409 0.1142 0.3386 5008 , , NA 16646 0.3512 NA 0.2972 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 A ,, 730,3676 302.7+/-287.5 56,618,1529 53 54 54 ,, -3 0 14 dbSNP_121 54 2722,5878 434.3+/-357.7 432,1858,2010 no intron,intron,intron KLC1 NM_001130107.1,NM_005552.4,NM_182923.3 ,, 488,2476,3539 GG,GA,AA 31.6512,16.5683,26.5416 ,, ,, 104135966 3452,9554 2203 4300 6503 SO:0001627 intron_variant AF267530 CCDS32165.1, CCDS41996.1, CCDS45168.1 14q32.3 2013-01-10 2007-03-09 2007-03-09 ENSG00000126214 ENSG00000126214 3831 Tetratricopeptide (TTC) repeat domain containing 6387 protein-coding gene gene with protein product 600025 kinesin 2 60/70kDa, kinesin 2 KNS2 NA 8274221, 11106729 Standard NM_005552 NM_005552 NA Approved KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B uc010tyf.2 Q07866 OTTHUMG00000169227 ENST00000445352.4:c.879+31A>G chr14.hg19:g.104135966A>G NA A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62 hg19 0.02 4.913157 TTAxTAT COVERED NOVEL KLC1-015 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000414871.1 1 10.228886 KEEP 0 0 0 34 1027 AA 0.999998 0.999997 0 + 7 60 271 0 0 18.827964 114 60 4186 176 ENST00000445352.4 0.057851 0.999999 KLC1 3831 __UNKNOWN__ __UNKNOWN__ 14 104136633 104136633 __UNKNOWN__ Intron SNP G G C rs12590968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104136633G>C ENST00000445352.4 + 7 1180 KLC1_ENST00000246489.7_Intron|KLC1_ENST00000555836.1_Intron|RP11-73M18.2_ENST00000472726.2_Intron|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000348520.6_Intron|KLC1_ENST00000553286.1_Intron|KLC1_ENST00000380038.3_Intron|KLC1_ENST00000557575.1_Intron|KLC1_ENST00000389744.4_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000452929.2_Intron NM_005552.4 NP_005543.2 Q07866 KLC1_HUMAN kinesin light chain 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874) microtubule motor activity (GO:0003777)|motor activity (GO:0003774) KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) ACAAAAGAAGGGGGCAGTCGT 0.428 NA G||| 1225 0.244609 0.1142 0.3386 5008 , , NA 16643 0.3522 NA 0.2962 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 G ,, 728,3678 291.5+/-281.6 56,616,1531 61 68 65 ,, -4.7 0 14 dbSNP_120 65 2722,5878 427.8+/-355.7 431,1860,2009 no intron,intron,intron KLC1 NM_001130107.1,NM_005552.4,NM_182923.3 ,, 487,2476,3540 CC,CG,GG 31.6512,16.5229,26.5262 ,, ,, 104136633 3450,9556 2203 4300 6503 SO:0001627 intron_variant AF267530 CCDS32165.1, CCDS41996.1, CCDS45168.1 14q32.3 2013-01-10 2007-03-09 2007-03-09 ENSG00000126214 ENSG00000126214 3831 Tetratricopeptide (TTC) repeat domain containing 6387 protein-coding gene gene with protein product 600025 kinesin 2 60/70kDa, kinesin 2 KNS2 NA 8274221, 11106729 Standard NM_005552 NM_005552 NA Approved KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B uc010tyf.2 Q07866 OTTHUMG00000169227 ENST00000445352.4:c.981+13G>C chr14.hg19:g.104136633G>C NA A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62 hg19 0.02 1.321038 AAGxGGG COVERED NOVEL KLC1-015 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000414871.1 6 7.1559 KEEP 0 1 26 33 1096 GG 0.999998 0.999954 0 + 7 60 228 0 0 15.162339 92 60 3325 148 ENST00000445352.4 0.070707 0.999956 KLC1 3831 __UNKNOWN__ __UNKNOWN__ 14 104152352 104152352 __UNKNOWN__ 3'UTR SNP C C G rs8702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104152352C>G ENST00000445352.4 + 0 2245 KLC1_ENST00000246489.7_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000348520.6_Intron|KLC1_ENST00000553286.1_3'UTR|KLC1_ENST00000389744.4_3'UTR|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000347839.6_Intron|KLC1_ENST00000452929.2_Intron NM_005552.4 NP_005543.2 Q07866 KLC1_HUMAN kinesin light chain 1 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874) microtubule motor activity (GO:0003777)|motor activity (GO:0003774) KLC1/ALK(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 12 Melanoma(154;0.155)|all_epithelial(191;0.19) CTAAGCCTTACAGCAAGGCAT 0.537 NA G||| 2519 0.502995 0.4259 0.5793 5008 , , NA 18704 0.4583 NA 0.6918 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF267530 CCDS32165.1, CCDS41996.1, CCDS45168.1 14q32.3 2013-01-10 2007-03-09 2007-03-09 ENSG00000126214 ENSG00000126214 3831 Tetratricopeptide (TTC) repeat domain containing 6387 protein-coding gene gene with protein product 600025 kinesin 2 60/70kDa, kinesin 2 KNS2 NA 8274221, 11106729 Standard NM_005552 NM_005552 NA Approved KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B uc010tyf.2 Q07866 OTTHUMG00000169227 ENST00000445352.4:c.*396C>G chr14.hg19:g.104152352C>G NA A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62 hg19 0.02 4.508206 TTAxAGC COVERED NOVEL KLC1-015 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000414871.1 2 8.162109 KEEP 0 1 37 40 1384 CC 1 1 0 + 5 60 194 0 0 12.533543 128 60 4787 194 ENST00000445352.4 0.037594 1 XRCC3 7517 __UNKNOWN__ __UNKNOWN__ 14 104165927 104165927 __UNKNOWN__ Intron SNP T T C rs1799796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104165927T>C ENST00000553264.1 - 6 1358 KLC1_ENST00000555836.1_Intron|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000554913.1_Intron|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000352127.7_Intron|KLC1_ENST00000334553.6_Intron|XRCC3_ENST00000445556.1_Intron|KLC1_ENST00000557450.1_Intron|XRCC3_ENST00000555055.1_Intron|XRCC3_ENST00000554974.1_Intron|KLC1_ENST00000452929.2_Intron O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 NA NA cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094) endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) TGGGGACAGCTGTCATTGTCT 0.592 NA Direct reversal of damage;Homologous recombination T||| 1236 0.246805 0.1142 0.3401 5008 , , NA 17680 0.3641 NA 0.2952 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 GRCh37 CS024028 XRCC3 S rs1799796 T ,,,, 723,3683 283.4+/-277.1 55,613,1535 40 44 42 ,,,, -7.9 0 14 dbSNP_89 42 2715,5885 420.4+/-353.4 433,1849,2018 no intron,intron,intron,intron,intron KLC1,XRCC3 NM_001100118.1,NM_001100119.1,NM_001130107.1,NM_005432.3,NM_182923.3 ,,,, 488,2462,3553 CC,CT,TT 31.5698,16.4094,26.434 ,,,, ,,,, 104165927 3438,9568 2203 4300 6503 SO:0001627 intron_variant AF035586 CCDS9984.1 14q32.3 2006-05-04 ENSG00000126215 7517 12830 protein-coding gene gene with protein product RAD51-like 600675 NA 7603995 Standard NM_005432 NM_001100118 NA Approved uc001ynz.4 O43542 ENST00000553264.1:c.562-14A>G chr14.hg19:g.104165927T>C NA O43568|Q9BU18 hg19 CCDS9984.1 0.02 15.958023 AGCxGTC COVERED NOVEL XRCC3-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414631.1 0 18.32662 KEEP 0 2 69 85 2706 TT 1 1 0 - 11 60 410 0 0 24.458105 383 60 14254 604 ENST00000553264.1 0.027919 1 ZFYVE21 79038 __UNKNOWN__ __UNKNOWN__ 14 104193099 104193099 __UNKNOWN__ Intron SNP C C G rs2295151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104193099C>G ENST00000216602.6 + 2 250 ZFYVE21_ENST00000311141.2_Intron NM_001198953.1 NP_001185882.1 Q9BQ24 ZFY21_HUMAN zinc finger, FYVE domain containing 21 NA NA cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768) metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2) 8 Melanoma(154;0.226) Epithelial(152;0.245) GACCAAGCTGCGTTTTAACGC 0.587 NA G||| 2975 0.59405 0.8971 0.6196 5008 , , NA 19535 0.4881 NA 0.4433 False NA ,,, NA NA NA 2504 0.4305 NA NA NA NA 0 G , 3665,741 306.0+/-289.3 1532,601,70 274 265 268 , 3.1 0 14 dbSNP_100 268 4023,4577 597.8+/-393.8 942,2139,1219 no intron,intron ZFYVE21 NM_001198953.1,NM_024071.3 , 2474,2740,1289 GG,GC,CC 46.7791,16.818,40.8888 , , 104193099 7688,5318 2203 4300 6503 SO:0001627 intron_variant AK057816 CCDS9985.1, CCDS55948.1 14q32.33 2011-09-07 79038 Zinc fingers, FYVE domain containing 20760 protein-coding gene gene with protein product 613504 NA 21768110 Standard NM_024071 NM_024071 NA Approved MGC2550, ZF21 uc001yod.3 Q9BQ24 ENST00000216602.6:c.139-30C>G chr14.hg19:g.104193099C>G NA A8K3A4|Q86T05|Q96LT1 hg19 CCDS55948.1 0.02 6.396202 CTGxGTT COVERED NOVEL ZFYVE21-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414614.1 5 15.250376 KEEP 0 1 38 64 2208 CC 1 1 0 + 6 60 216 0 0 13.425131 150 60 5451 291 ENST00000216602.6 0.038462 1 ZFYVE21 79038 __UNKNOWN__ __UNKNOWN__ 14 104199356 104199356 __UNKNOWN__ 3'UTR SNP C C T rs2295146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104199356C>T ENST00000216602.6 + 0 872 ZFYVE21_ENST00000311141.2_3'UTR NM_001198953.1 NP_001185882.1 Q9BQ24 ZFY21_HUMAN zinc finger, FYVE domain containing 21 NA NA cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768) metal ion binding (GO:0046872) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2) 8 Melanoma(154;0.226) Epithelial(152;0.245) GGACCAGTAACTCTACGTGGG 0.562 NA C||| 1908 0.38099 0.4992 0.402 5008 , , NA 20224 0.3651 NA 0.3628 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 0 C , 2236,2170 591.5+/-387.6 560,1116,527 120 96 104 , -1.1 0 14 dbSNP_100 104 3346,5254 497.5+/-374.5 657,2032,1611 no utr-3,utr-3 ZFYVE21 NM_001198953.1,NM_024071.3 , 1217,3148,2138 TT,TC,CC 38.907,49.251,42.9187 , , 104199356 5582,7424 2203 4300 6503 SO:0001624 3_prime_UTR_variant AK057816 CCDS9985.1, CCDS55948.1 14q32.33 2011-09-07 79038 Zinc fingers, FYVE domain containing 20760 protein-coding gene gene with protein product 613504 NA 21768110 Standard NM_024071 NM_024071 NA Approved MGC2550, ZF21 uc001yod.3 Q9BQ24 ENST00000216602.6:c.*1C>T chr14.hg19:g.104199356C>T NA A8K3A4|Q86T05|Q96LT1 hg19 CCDS55948.1 0.02 16.182736 TAAxTCT COVERED NOVEL ZFYVE21-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414614.1 3 21.304242 KEEP 0 1 32 82 2911 CC 1 1 0 + 14 60 525 0 0 33.540935 343 60 12784 530 ENST00000216602.6 0.039216 1 ASPG 374569 __UNKNOWN__ __UNKNOWN__ 14 104575531 104575531 __UNKNOWN__ Intron SNP C C G rs1744302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104575531C>G ENST00000551177.1 + 13 1525 ASPG_ENST00000546892.2_Intron|ASPG_ENST00000455920.2_Intron NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase NA NA asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644) 1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CTGGGCTGGCCAGGGCAGAAG 0.672 NA C||| 1651 0.329673 0.3843 0.3184 5008 , , NA 18990 0.3681 NA 0.2127 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 C 1395,2827 238,919,954 26 31 29 0.7 0 14 dbSNP_89 29 1819,6637 201,1417,2610 no intron ASPG NM_001080464.2 439,2336,3564 GG,GC,CC 21.5114,33.0412,25.351 104575531 3214,9464 2111 4228 6339 SO:0001627 intron_variant CCDS45170.1, CCDS45170.2 14q32.33 2014-03-14 2014-03-14 2008-11-06 ENSG00000166183 ENSG00000166183 374569 3.1.1.5, 3.5.1.1 Ankyrin repeat domain containing 20123 protein-coding gene gene with protein product 60-kDa-lysophospholipase chromosome 14 open reading frame 76, asparaginase homolog (S. cerevisiae) C14orf76 NA Standard NM_001080464 NM_001080464 NA Approved uc001yoq.2 Q86U10 ENST00000551177.1:c.1434-35C>G chr14.hg19:g.104575531C>G NA B9EGQ2|Q8IV80 hg19 CCDS45170.2 0.02 3.38196 GGCxAGG COVERED NOVEL ASPG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407005.1 0 5.116653 KEEP 0 0 0 17 613 CC 0.999366 0.999366 0 + 6 60 187 0 0 11.122721 119 60 4459 173 ENST00000551177.1 0.048 0.999999 KIF26A 26153 __UNKNOWN__ __UNKNOWN__ 14 104645944 104645944 __UNKNOWN__ Splice_Site SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:104645944A>C ENST00000423312.2 + 15 5467 c.e15-1 KIF26A_ENST00000315264.7_Splice_Site NM_015656.1 NP_056471.1 Q9ULI4 KI26A_HUMAN kinesin family member 26A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560) cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) tcccctccccAGTTGAGGTGG 0.731 NA NA NA NA NA NA NA NA NA NA NA 0 7 8 8 NA NA 14 NA 104645944 1471 3241 4712 SO:0001630 splice_region_variant AB033062 CCDS45171.1 14q32.33 2009-03-19 ENSG00000066735 ENSG00000066735 26153 Kinesins 20226 protein-coding gene gene with protein product 613231 NA 10574462, 11416179 Standard NM_015656 NA Approved KIAA1236, DKFZP434N178 uc001yos.4 Q9ULI4 OTTHUMG00000154986 ENST00000423312.2:c.5468-1A>C chr14.hg19:g.104645944A>C NA Q8TAZ7|Q96GK3|Q9UFL3 hg19 CCDS45171.1 0.02 -0.384167 CCCxGTT COVERED . . . . . . . . . . A 18.36 3.606584 0.66445 . . ENSG00000066735 ENST00000423312;ENST00000315264 . . . 4.56 4.56 0.56223 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 13.9222 0.63940 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . KIF26A 103715697 1.000000 0.71417 0.965000 0.40720 0.615000 0.37417 8.717000 0.91425 1.697000 0.51169 0.418000 0.28097 . NOVEL KIF26A-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414356.1 1 2.399968 KEEP 0 0 0 8 238 AA 0.99257 0.919755 0 Intron + 4 60 117 0 0 7.806311 40 60 1243 63 ENST00000423312.2 0.090909 0.92664 RP11-982M15.6 0 __UNKNOWN__ __UNKNOWN__ 14 105150434 105150434 __UNKNOWN__ lincRNA SNP G G A rs78402962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105150434G>A ENST00000540171.2 + 0 472 NA NA NA AAGATGGCACGGACCCCCGAC 0.562 NA G||| 8 0.00159744 0.0 0.0 5008 , , NA 18140 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000540171.2: chr14.hg19:g.105150434G>A NA hg19 0.02 21.319807 CACxGAC COVERED 2 9.157509157509158E-4 0 0.0 0 0.0 2 0.0034965034965034965 0 0.0 G 3.784 -0.045087 0.07452 . . ENSG00000256050 ENST00000540171 . . . 1.08 -1.87 0.07737 . . . . . T 0.26195 0.0639 . . . . . . . . . . . . T 0.31194 -0.9952 3 . . . . 3.1176 0.06380 0.2516:0.3237:0.4247:0.0 . . . . R 69 . . G + 1 0 RP11-982M15.6 104221479 0.000000 0.05858 0.000000 0.03702 0.133000 0.20885 -0.358000 0.07641 -0.636000 0.05524 -0.657000 0.03884 GGA NOVEL RP11-982M15.6-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000410526.1 2 38.786113 KEEP 0 0 0 129 4407 GG 1 1 0 + 18 60 655 0 0 40.158154 502 60 17122 831 ENST00000540171.2 0.034615 1 RP11-982M15.6 0 __UNKNOWN__ __UNKNOWN__ 14 105151024 105151024 __UNKNOWN__ lincRNA SNP T T C rs55989006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105151024T>C ENST00000540171.2 + 0 1062 NA NA NA cttggtgtggtagacccaagc 0.507 NA T||| 1241 0.247804 0.0469 0.3401 5008 , , NA 19608 0.6369 NA 0.1272 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000540171.2: chr14.hg19:g.105151024T>C NA hg19 0.02 11.268494 TGGxAGA COVERED NOVEL RP11-982M15.6-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000410526.1 0 18.299793 KEEP 0 0 0 61 1762 TT 1 1 0 + 10 60 369 0 0 22.746172 283 60 9837 430 ENST00000540171.2 0.03413 1 INF2 64423 __UNKNOWN__ __UNKNOWN__ 14 105177610 105177610 __UNKNOWN__ Intron SNP C C T rs144223942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105177610C>T ENST00000392634.4 + 15 2530 INF2_ENST00000330634.7_Intron NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing NA NA actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TACCCCCATGCCCACCACTCA 0.682 NA C||| 22 0.00439297 0.0 0.0 5008 , , NA 13448 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025709 CCDS9989.2, CCDS45173.1 14q32.33 2009-09-07 2007-11-29 2007-11-29 ENSG00000203485 ENSG00000203485 64423 23791 protein-coding gene gene with protein product inverted formin 2 610982 chromosome 14 open reading frame 151, chromosome 14 open reading frame 173 C14orf151, C14orf173 NA 16818491 Standard NM_022489 NM_001031714 NA Approved MGC13251 uc001ypb.2 Q27J81 OTTHUMG00000029811 ENST00000392634.4:c.2418+87C>T chr14.hg19:g.105177610C>T NA Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1 hg19 CCDS9989.2 0.02 -0.315786 ATGxCCA COVERED NOVEL INF2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000074371.4 0 3.008897 KEEP 0 0 0 10 317 CC 0.992708 0.812496 0 + 4 60 124 0 0 8.861687 32 60 1130 48 ENST00000392634.4 0.111111 0.818465 ADSSL1 122622 __UNKNOWN__ __UNKNOWN__ 14 105211221 105211221 __UNKNOWN__ Silent SNP C C T rs12432802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105211221C>T ENST00000330877.2 + 11 1231 c.1146C>T c.(1144-1146)aaC>aaT p.N382N ADSSL1_ENST00000332972.5_Silent_p.N425N|ADSSL1_ENST00000554657.1_3'UTR NM_152328.3 NP_689541.1 adenylosuccinate synthase like 1 NA NA central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) ACAAGCTGAACGGGAAAAGGA 0.532 NA C||| 1020 0.203674 0.0658 0.2046 5008 , , NA 20645 0.5228 NA 0.0656 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C , 261,4145 149.2+/-183.4 8,245,1950 84 78 80 1146,1275 -1.4 0.8 14 dbSNP_120 80 559,8041 152.2+/-206.8 16,527,3757 no coding-synonymous,coding-synonymous ADSSL1 NM_152328.3,NM_199165.1 , 24,772,5707 TT,TC,CC 6.5,5.9237,6.3048 , 382/458,425/501 105211221 820,12186 2203 4300 6503 SO:0001819 synonymous_variant AK095921 CCDS9990.1, CCDS9991.1 14q32.33 2010-08-05 ENSG00000185100 ENSG00000185100 122622 20093 protein-coding gene gene with protein product 612498 NA Standard NM_199165 NA Approved FLJ38602 uc001ype.3 Q8N142 ENST00000330877.2:c.1146C>T chr14.hg19:g.105211221C>T NA hg19 CCDS9990.1 0.02 4.512218 GAAxGGG COVERED NOVEL ADSSL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410529.1 0 4.212489 KEEP 0 0 0 14 467 CC 0.995343 0.995343 0 + 8 60 298 0 0 20.228102 135 60 4788 198 ENST00000330877.2 0.055944 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 105233095 105233095 __UNKNOWN__ IGR SNP C C A rs2498804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105233095C>A NA NA SIVA1 (7099 upstream) : RP11-982M15.2 (2590 downstream) NA NA NA TCTAAGTGCTCAAGTCACTTT 0.537 NA A||| 2156 0.430511 0.2383 0.4928 5008 , , NA 19503 0.6339 NA 0.3231 False NA ,,, NA NA NA 2504 0.547 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.105233095C>A NA hg19 0.02 3.718753 GCTxAAG COVERED NOVEL 0 0 9.63127 KEEP 0 0 0 32 1135 CC 0.999997 0.999997 0 6 60 210 0 0 13.267988 126 60 4922 212 0.045455 1 AKT1 207 __UNKNOWN__ __UNKNOWN__ 14 105239591 105239591 __UNKNOWN__ Silent SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105239591G>T ENST00000555458.1 - 1 60 c.39C>A c.(37-39)ccC>ccA p.P13P AKT1_ENST00000554192.1_Silent_p.P38P|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554848.1_Silent_p.P318P|AKT1_ENST00000544168.1_Silent_p.P256P|AKT1_ENST00000555528.1_Silent_p.P318P|AKT1_ENST00000349310.3_Silent_p.P318P|AKT1_ENST00000402615.2_Silent_p.P318P|AKT1_ENST00000554581.1_Silent_p.P318P|AKT1_ENST00000407796.2_Silent_p.P318P P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 318 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412) cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CGCACACCTCGGGGGCCAGGT 0.612 1 Mis breast, colorectal, ovarian, NSCLC NA NA NA NA NA NA NA NA NA Dom yes 14 14q32.32 207 v-akt murine thymoma viral oncogene homolog 1 E 0 131 95 107 NA NA 14 NA 105239591 2203 4300 6503 SO:0001819 synonymous_variant M63167 CCDS9994.1 14q32.33 2014-09-17 ENSG00000142208 ENSG00000142208 207 2.7.11.1 Pleckstrin homology (PH) domain containing 391 protein-coding gene gene with protein product 164730 NA Standard NM_005163 XM_005267401 NA Approved RAC, PKB, PRKBA, AKT uc001ypn.3 P31749 OTTHUMG00000170795 ENST00000555458.1:c.39C>A chr14.hg19:g.105239591G>T NA B2RAM5|B7Z5R1|Q9BWB6 hg19 0.02 21.720258 CTCxGGG COVERED NOVEL AKT1-018 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000410424.1 3 19.863164 KEEP 0 0 0 66 2266 GG 1 1 0 - 19 60 682 0 0 41.887216 501 60 16839 711 ENST00000555458.1 0.036538 1 AKT1 207 __UNKNOWN__ __UNKNOWN__ 14 105239894 105239894 __UNKNOWN__ Silent SNP C C T rs1130233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105239894C>T ENST00000554581.1 - 8 2206 c.726G>A c.(724-726)gaG>gaA p.E242E AKT1_ENST00000554848.1_Silent_p.E242E|AKT1_ENST00000544168.1_Silent_p.E180E|AKT1_ENST00000555528.1_Silent_p.E242E|AKT1_ENST00000349310.3_Silent_p.E242E|AKT1_ENST00000402615.2_Silent_p.E242E|AKT1_ENST00000407796.2_Silent_p.E242E P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 242 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412) cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) AGAACACACGCTCCCGGGACA 0.652 1 Mis breast, colorectal, ovarian, NSCLC C||| 1615 0.322484 0.0787 0.4222 5008 , , NA 14497 0.6002 NA 0.2425 False NA ,,, NA NA NA 2504 0.3773 NA NA NA Dom yes 14 14q32.32 207 v-akt murine thymoma viral oncogene homolog 1 E 0 GRCh37 CM081515 AKT1 M rs1130233 C ,, 507,3897 216.1+/-234.9 33,441,1728 31 26 28 726,726,726 4.8 0.9 14 dbSNP_86 28 2115,6485 334.9+/-321.2 269,1577,2454 no coding-synonymous,coding-synonymous,coding-synonymous AKT1 NM_001014431.1,NM_001014432.1,NM_005163.2 ,, 302,2018,4182 TT,TC,CC 24.593,11.5123,20.163 ,, 242/481,242/481,242/481 105239894 2622,10382 2202 4300 6502 SO:0001819 synonymous_variant M63167 CCDS9994.1 14q32.33 2014-09-17 ENSG00000142208 ENSG00000142208 207 2.7.11.1 Pleckstrin homology (PH) domain containing 391 protein-coding gene gene with protein product 164730 NA Standard NM_005163 XM_005267401 NA Approved RAC, PKB, PRKBA, AKT uc001ypn.3 P31749 OTTHUMG00000170795 ENST00000554581.1:c.726G>A chr14.hg19:g.105239894C>T NA B2RAM5|B7Z5R1|Q9BWB6 hg19 CCDS9994.1 0.02 3.982911 ACGxTCC COVERED NOVEL AKT1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410418.1 0 2.544781 KEEP 0 1 36 21 762 CC 0.999879 0.999879 0 - 14 60 480 0 0 35.108193 122 60 4488 188 ENST00000554581.1 0.102941 1 AKT1 207 __UNKNOWN__ __UNKNOWN__ 14 105242228 105242228 __UNKNOWN__ Intron SNP T T C rs2498797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105242228T>C ENST00000554581.1 - 4 1768 AKT1_ENST00000554848.1_Intron|AKT1_ENST00000544168.1_Intron|AKT1_ENST00000555528.1_Intron|AKT1_ENST00000349310.3_Intron|AKT1_ENST00000402615.2_Intron|AKT1_ENST00000407796.2_Intron P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 NA NA activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412) cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CAAGCGTGGTTCCACAGCTGT 0.632 1 Mis breast, colorectal, ovarian, NSCLC C||| 2628 0.52476 0.5272 0.5216 5008 , , NA 14881 0.6409 NA 0.3489 False NA ,,, NA NA NA 2504 0.5849 NA NA NA Dom yes 14 14q32.32 207 v-akt murine thymoma viral oncogene homolog 1 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M63167 CCDS9994.1 14q32.33 2014-09-17 ENSG00000142208 ENSG00000142208 207 2.7.11.1 Pleckstrin homology (PH) domain containing 391 protein-coding gene gene with protein product 164730 NA Standard NM_005163 XM_005267401 NA Approved RAC, PKB, PRKBA, AKT uc001ypn.3 P31749 OTTHUMG00000170795 ENST00000554581.1:c.288-92A>G chr14.hg19:g.105242228T>C NA B2RAM5|B7Z5R1|Q9BWB6 hg19 CCDS9994.1 0.02 4.130379 GGTxCCA COVERED NOVEL AKT1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410418.1 0 4.513498 KEEP 0 0 0 15 475 TT 0.99649 0.99649 0 - 6 60 206 0 0 12.690162 136 60 4859 170 ENST00000554581.1 0.042254 1 AKT1 207 __UNKNOWN__ __UNKNOWN__ 14 105242966 105242966 __UNKNOWN__ Intron SNP T T C rs2494735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105242966T>C ENST00000554581.1 - 3 1768 AKT1_ENST00000554848.1_Intron|AKT1_ENST00000544168.1_Intron|AKT1_ENST00000555528.1_Intron|AKT1_ENST00000349310.3_Intron|AKT1_ENST00000402615.2_Intron|AKT1_ENST00000407796.2_Intron P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 NA NA activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412) cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GCTGCCCAAGTGCCTGGCCTG 0.657 1 Mis breast, colorectal, ovarian, NSCLC C||| 2987 0.596446 0.736 0.5519 5008 , , NA 14887 0.6548 NA 0.3728 False NA ,,, NA NA NA 2504 0.6094 NA NA NA Dom yes 14 14q32.32 207 v-akt murine thymoma viral oncogene homolog 1 E 0 C ,, 3051,1355 440.2+/-345.9 1076,899,228 40 36 37 ,, -3.6 0 14 dbSNP_100 37 3084,5514 649.7+/-400.6 564,1956,1779 no intron,intron,intron AKT1 NM_001014431.1,NM_001014432.1,NM_005163.2 ,, 1640,2855,2007 CC,CT,TT 35.8688,30.7535,47.1778 ,, ,, 105242966 6135,6869 2203 4299 6502 SO:0001627 intron_variant M63167 CCDS9994.1 14q32.33 2014-09-17 ENSG00000142208 ENSG00000142208 207 2.7.11.1 Pleckstrin homology (PH) domain containing 391 protein-coding gene gene with protein product 164730 NA Standard NM_005163 XM_005267401 NA Approved RAC, PKB, PRKBA, AKT uc001ypn.3 P31749 OTTHUMG00000170795 ENST00000554581.1:c.287+29A>G chr14.hg19:g.105242966T>C NA B2RAM5|B7Z5R1|Q9BWB6 hg19 CCDS9994.1 0.02 8.847947 AAGxGCC COVERED NOVEL AKT1-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410418.1 0 22.491901 KEEP 0 1 32 86 2546 TT 1 1 0 - 12 60 439 0 0 29.506253 204 60 7072 398 ENST00000554581.1 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 105302536 105302536 __UNKNOWN__ IGR SNP G G A rs12889498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105302536G>A NA NA LINC00638 (12481 upstream) : CTD-3051D23.1 (6463 downstream) NA NA NA GCAGCCCCGGGCTGAGGTGTA 0.612 NA G||| 2415 0.482228 0.7231 0.4121 5008 , , NA 18360 0.6349 NA 0.1819 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.105302536G>A NA hg19 0.02 -0.359705 CGGxCTG COVERED NOVEL 0 1 4.213911 KEEP 2 0 0 14 512 GG 0.995343 0.884736 0 4 49 136 0 0 9.818635 37 60 1422 70 0.097561 0.888875 AHNAK2 113146 __UNKNOWN__ __UNKNOWN__ 14 105409019 105409019 __UNKNOWN__ Intron SNP C C T rs117776917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105409019C>T ENST00000557457.1 - 2 24 AHNAK2_ENST00000333244.5_Missense_Mutation_p.V4257M Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 NA NA costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GACACCTCCACGACGGGGGTC 0.642 NA C||| 7 0.00139776 0.003 0.0 5008 , , NA 17990 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C MET/VAL 7,3837 0,7,1915 125 136 132 12769 -2.3 0 14 dbSNP_132 132 0,8244 0,0,4122 no missense AHNAK2 NM_138420.2 21 0,7,6037 TT,TC,CC 0.0,0.1821,0.0579 probably-damaging 4257/5796 105409019 7,12081 1922 4122 6044 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146 20125 protein-coding gene gene with protein product 608570 chromosome 14 open reading frame 78 C14orf78 NA 15007166 Standard NM_138420 NM_138420 NA Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.220-1704G>A chr14.hg19:g.105409019C>T NA Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 hg19 0.02 6.524948 CCAxGAC COVERED 5 0.0022893772893772895 4 0.008130081300813009 0 0.0 1 0.0017482517482517483 0 0.0 c 11.20 1.567576 0.28003 0.001821 0.0 ENSG00000185567 ENST00000333244 T 0.00892 5.57 3.8 -2.26 0.06867 . 2.111520 0.03901 U 0.280282 T 0.02119 0.0066 M 0.81802 2.56 0.09310 N 1 P 0.49696 0.927 P 0.52066 0.689 T 0.37934 -0.9684 10 0.28530 T 0.3 -15.371 8.3022 0.32021 0.0:0.2278:0.5288:0.2433 . 4257 Q8IVF2 AHNK2_HUMAN M 4257 ENSP00000353114:V4257M ENSP00000353114:V4257M V - 1 0 AHNAK2 104480064 0.069000 0.21087 0.001000 0.08648 0.003000 0.03518 -0.380000 0.07427 -1.170000 0.02769 -0.700000 0.03674 GTG NOVEL AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000410299.1 0 8.125642 KEEP 0 0 0 27 906 CC 0.999988 0.999988 0 - 9 60 335 0 0 22.653869 155 60 5368 225 ENST00000557457.1 0.054878 1 AHNAK2 113146 __UNKNOWN__ __UNKNOWN__ 14 105410913 105410913 __UNKNOWN__ Intron SNP G G A rs183718030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105410913G>A ENST00000557457.1 - 2 24 AHNAK2_ENST00000333244.5_Silent_p.S3625S Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 NA NA costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TGTCAGCCAGGGACAGGTCTC 0.597 NA .||| 32 0.00638978 0.0008 0.0058 5008 , , NA 19091 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 G 4,4050 0,4,2023 153 165 161 10875 -2.5 0 14 161 2,8372 0,2,4185 no coding-synonymous AHNAK2 NM_138420.2 0,6,6208 AA,AG,GG 0.0239,0.0987,0.0483 3625/5796 105410913 6,12422 2027 4187 6214 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146 20125 protein-coding gene gene with protein product 608570 chromosome 14 open reading frame 78 C14orf78 NA 15007166 Standard NM_138420 NM_138420 NA Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.220-3598C>T chr14.hg19:g.105410913G>A NA Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 hg19 0.02 9.181145 CAGxGAC COVERED NOVEL AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000410299.1 4 9.932381 KEEP 0 0 0 33 1165 GG 0.999998 0.999998 0 - 9 60 344 0 0 22.100695 227 60 8303 318 ENST00000557457.1 0.038136 1 AHNAK2 113146 __UNKNOWN__ __UNKNOWN__ 14 105414804 105414804 __UNKNOWN__ Intron SNP A A G rs117064989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105414804A>G ENST00000557457.1 - 1 24 AHNAK2_ENST00000333244.5_Silent_p.F2328F Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 NA NA costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGACACCCCAAACGACAGCA 0.602 NA .||| 210 0.0419329 0.0045 0.0058 5008 , , NA 20457 0.1806 NA 0.004 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 G 8,4102 0,8,2047 200 222 214 6984 -7.3 0 14 dbSNP_132 214 13,8383 0,13,4185 no coding-synonymous AHNAK2 NM_138420.2 0,21,6232 GG,GA,AA 0.1548,0.1946,0.1679 2328/5796 105414804 21,12485 2055 4198 6253 SO:0001627 intron_variant AB095939 CCDS45177.1 14q32.33 2010-04-01 2007-03-26 2007-03-26 ENSG00000185567 ENSG00000185567 113146 20125 protein-coding gene gene with protein product 608570 chromosome 14 open reading frame 78 C14orf78 NA 15007166 Standard NM_138420 NM_138420 NA Approved uc010axc.1 Q8IVF2 ENST00000557457.1:c.219+5413T>C chr14.hg19:g.105414804A>G NA Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9 hg19 0.02 8.292648 CCCxAAC COVERED NOVEL AHNAK2-003 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000410299.1 2 6.884691 KEEP 0 2 57 43 1296 AA 1 1 0 - 8 60 276 0 0 16.719497 199 60 7237 317 ENST00000557457.1 0.038647 1 MTA1 9112 __UNKNOWN__ __UNKNOWN__ 14 105930406 105930406 __UNKNOWN__ Missense_Mutation SNP G G A rs4983413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105930406G>A ENST00000405646.1 + 12 1161 c.1063G>A c.(1063-1065)Gtc>Atc p.V355I MTA1_ENST00000331320.7_Missense_Mutation_p.V372I|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Missense_Mutation_p.V372I Q13330 MTA1_HUMAN metastasis associated 1 372 NA circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) p.V372I(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CGTCAACAACGTCAAGGCCGG 0.617 NA G||| 1427 0.284944 0.0121 0.3314 5008 , , NA 12491 0.622 NA 0.2366 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ILE/VAL,ILE/VAL 233,4173 138.0+/-173.8 9,215,1979 73 76 75 1114,1114 1.7 1 14 dbSNP_111 75 1995,6605 349.7+/-327.5 235,1525,2540 yes missense,missense MTA1 NM_001203258.1,NM_004689.3 29,29 244,1740,4519 AA,AG,GG 23.1977,5.2882,17.1306 benign,benign 372/431,372/716 105930406 2228,10778 2203 4300 6503 SO:0001583 missense U35113 CCDS32169.1, CCDS55954.1 14q32.33 2013-01-25 ENSG00000182979 ENSG00000182979 9112 GATA zinc finger domain containing 7410 protein-coding gene gene with protein product 603526 NA 8083195, 7607577 Standard NM_004689 NA Approved uc001yqx.3 Q13330 OTTHUMG00000150362 ENST00000405646.1:c.1063G>A chr14.hg19:g.105930406G>A ENSP00000384180:p.Val355Ile NA A5PLK4|Q86SW2|Q8NFI8|Q96GI8 hg19 0.02 18.540399 AACxTCA COVERED 655 0.2999084249084249 11 0.022357723577235773 110 0.30386740331491713 360 0.6293706293706294 174 0.22955145118733508 G 12.92 2.082237 0.36758 0.052882 0.231977 ENSG00000182979 ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050 T;T;T;T 0.30981 1.52;1.52;1.51;1.53 4.61 1.66 0.24008 . 0.396957 0.27080 N 0.021022 T 0.00012 0.0000 N 0.22421 0.69 0.09310 P 0.99999999865637 B;B 0.31274 0.164;0.317 B;B 0.26202 0.036;0.067 T 0.36187 -0.9758 9 0.36615 T 0.2 -21.1079 7.0619 0.25131 0.1661:0.1403:0.6937:0.0 rs4983413;rs60510827;rs4983413 164;372 Q59FW1;Q13330 .;MTA1_HUMAN I 281;372;372;355;164 ENSP00000333633:V372I;ENSP00000385702:V372I;ENSP00000384180:V355I;ENSP00000394106:V164I ENSP00000333633:V372I V + 1 0 MTA1 105001451 0.813000 0.29090 0.972000 0.41901 0.734000 0.41952 1.456000 0.35201 0.366000 0.24427 0.563000 0.77884 GTC NOVEL MTA1-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000317851.1 4 47.862146 KEEP 0 2 39 173 5999 GG 1 1 0 + 22 60 835 0 0 56.329143 407 60 14369 792 ENST00000405646.1 0.051282 1 MTA1 9112 __UNKNOWN__ __UNKNOWN__ 14 105930923 105930923 __UNKNOWN__ Intron SNP G G A rs11845995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105930923G>A ENST00000405646.1 + 13 1391 MTA1_ENST00000331320.7_Intron|MTA1_ENST00000435036.2_Intron|MTA1_ENST00000406191.1_Intron Q13330 MTA1_HUMAN metastasis associated 1 NA NA circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) GGGGACACCCGCCCTGCCTGC 0.637 NA G||| 3510 0.700879 0.1543 0.8545 5008 , , NA 11266 0.8879 NA 0.8907 False NA ,,, NA NA NA 2504 0.9427 NA NA NA NA 0 G , 1319,3081 231,857,1112 28 32 30 , -6.7 0 14 dbSNP_120 30 8374,226 4077,220,3 no intron,intron MTA1 NM_001203258.1,NM_004689.3 , 4308,1077,1115 AA,AG,GG 2.6279,29.9773,25.4385 , , 105930923 9693,3307 2200 4300 6500 SO:0001627 intron_variant U35113 CCDS32169.1, CCDS55954.1 14q32.33 2013-01-25 ENSG00000182979 ENSG00000182979 9112 GATA zinc finger domain containing 7410 protein-coding gene gene with protein product 603526 NA 8083195, 7607577 Standard NM_004689 NA Approved uc001yqx.3 Q13330 OTTHUMG00000150362 ENST00000405646.1:c.1293+19G>A chr14.hg19:g.105930923G>A NA A5PLK4|Q86SW2|Q8NFI8|Q96GI8 hg19 0.02 8.858768 CCCxCCC COVERED NOVEL MTA1-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000317851.1 0 11.068251 KEEP 0 2 51 55 1718 GG 1 1 0 + 10 60 324 0 0 19.244126 229 60 7410 375 ENST00000405646.1 0.041841 1 CRIP2 1397 __UNKNOWN__ __UNKNOWN__ 14 105945891 105945891 __UNKNOWN__ Intron SNP C C T rs11849001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:105945891C>T ENST00000483017.3 + 8 1067 CRIP2_ENST00000329146.4_Intron|CRIP2_ENST00000548989.1_Intron NM_001270837.1 NP_001257766.1 P52943 CRIP2_HUMAN cysteine-rich protein 2 NA NA hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284) cell cortex (GO:0005938) zinc ion binding (GO:0008270) lung(2) 2 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) TCCACTGTTCCCCCGACCCAC 0.642 NA C||| 4302 0.859026 0.593 0.928 5008 , , NA 14043 0.9871 NA 0.9503 False NA ,,, NA NA NA 2504 0.9438 NA NA NA NA 0 C 2840,1554 661.6+/-400.9 934,972,291 96 94 95 -3.3 0 14 dbSNP_120 95 8178,412 797.3+/-407.5 3890,398,7 no intron CRIP2 NM_001312.2 4824,1370,298 TT,TC,CC 4.7963,35.3664,15.1417 105945891 11018,1966 2197 4295 6492 SO:0001627 intron_variant CCDS10003.1, CCDS59246.1 14q32.3 2008-08-11 ENSG00000182809 ENSG00000182809 1397 2361 protein-coding gene gene with protein product 601183 NA 8843343, 10681529 Standard NM_001312 NM_001312 NA Approved CRP2, ESP1 uc031qqr.1 P52943 OTTHUMG00000029906 ENST00000483017.3:c.782-32C>T chr14.hg19:g.105945891C>T NA A1A4U1|B7Z6C0|E9PD13 hg19 CCDS59246.1 0.02 11.509117 TTCxCCC COVERED NOVEL CRIP2-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000074599.3 1 15.120266 KEEP 0 5 144 101 3525 CC 1 1 0 + 13 60 422 0 0 25.867859 264 60 9747 499 ENST00000483017.3 0.046931 1 RP11-731F5.1 0 __UNKNOWN__ __UNKNOWN__ 14 106067958 106067958 __UNKNOWN__ lincRNA SNP C C T rs74091262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106067958C>T ENST00000390540.2 - 0 427 NA NA NA TCACCGGCTCCGGGAAGTAGC 0.607 NA -||| 767 0.153155 0.093 0.0072 5008 , , NA 18212 0.5159 NA 0.001 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 C 275,3951 11,253,1849 98 112 108 -7.7 0 14 dbSNP_130 108 5,8437 0,5,4216 no intergenic 11,258,6065 TT,TC,CC 0.0592,6.5073,2.2103 106067958 280,12388 2113 4221 6334 NA NA NA NA ENST00000390540.2: chr14.hg19:g.106067958C>T NA hg19 0.02 9.145837 CTCxGGG COVERED NOVEL RP11-731F5.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000380286.1 0 4.513563 KEEP 0 0 0 15 513 CC 0.99649 0.99649 0 - 13 60 479 0 0 32.162323 227 60 7697 307 ENST00000390540.2 0.054167 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106188628 106188628 __UNKNOWN__ IGR SNP C C G rs74203794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106188628C>G NA NA AL901608.1 (10299 upstream) : IGHG1 (14051 downstream) NA NA NA CCCCTTCGATCCAGTCTCGGG 0.662 NA .||| 646 0.128994 0.003 0.0 5008 , , NA 13476 0.5585 NA 0.0 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106188628C>G NA hg19 0.02 2.285509 GATxCAG COVERED NOVEL 0 0 3.610988 KEEP 4 0 0 12 403 CC 0.993072 0.992296 0 5 60 181 0 0 12.405351 74 60 2770 115 0.063291 0.999218 IGHV1-2 28474 __UNKNOWN__ __UNKNOWN__ 14 106452766 106452766 __UNKNOWN__ RNA SNP T T A rs112806369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106452766T>A ENST00000390594.2 - 0 319 immunoglobulin heavy variable 1-2 NA NA NA ATGGTGACCCTGCCCTGAAAC 0.562 NA .||| 1608 0.321086 0.1831 0.3516 5008 , , NA 8257 0.3095 NA 0.4642 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 T 952,3150 113,726,1212 179 172 175 -2.1 0.3 14 dbSNP_132 175 3836,4538 916,2004,1267 no intergenic 1029,2730,2479 AA,AT,TT 45.8085,23.2082,38.3777 106452766 4788,7688 2051 4187 6238 X07448 14q32.33 2012-02-08 ENSG00000211934 ENSG00000211934 28474 Immunoglobulins / IGH locus 5550 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved V35 OTTHUMG00000152320 ENST00000390594.2: chr14.hg19:g.106452766T>A NA hg19 0.02 18.357041 CCCxGCC COVERED NOVEL IGHV1-2-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325882.1 23 11.669187 KEEP 13 1 32 50 1557 TT 1 1 0 - 12 60 430 0 0 25.920927 346 60 12838 639 ENST00000390594.2 0.03352 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106714751 106714751 __UNKNOWN__ IGR SNP A A G rs148948140 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106714751A>G NA NA IGHV3-21 (22548 upstream) : IGHV3-23 (10449 downstream) NA NA NA CTCACACTCAATTTCAATAGT 0.453 NA N||| 115 0.0229633 0.0 0.0202 5008 , , NA 12545 0.0942 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106714751A>G NA hg19 0.02 2.185599 TCAxTTT COVERED NOVEL 0 0 5.114987 KEEP 0 0 0 17 534 AA 0.999366 0.998585 0 4 60 146 0 0 9.614447 76 60 2794 113 0.05 0.999218 IGHV3-23 28442 __UNKNOWN__ __UNKNOWN__ 14 106725276 106725276 __UNKNOWN__ RNA SNP G G A rs12436001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106725276G>A ENST00000390609.2 - 0 354 immunoglobulin heavy variable 3-23 NA NA NA TCTTGGAATTGTCTCTGGAGA 0.532 NA G||| 241 0.048123 0.0998 0.0245 5008 , , NA 18693 0.0843 NA 0.002 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G 241,4093 4,233,1930 192 251 231 -0.6 0 14 dbSNP_120 231 12,8572 0,12,4280 no intergenic 4,245,6210 AA,AG,GG 0.1398,5.5607,1.9585 106725276 253,12665 2167 4292 6459 M99660 14q32.33 2012-02-08 ENSG00000211949 ENSG00000211949 28442 Immunoglobulins / IGH locus 5588 other immunoglobulin gene 611939 NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152091 ENST00000390609.2: chr14.hg19:g.106725276G>A NA hg19 0.02 17.348983 ATTxTCT COVERED NOVEL IGHV3-23-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325188.1 1 12.039525 KEEP 0 0 0 40 1443 GG 1 1 0 - 23 60 807 0 0 53.395571 380 60 14386 540 ENST00000390609.2 0.057072 1 IGHV3-23 28442 __UNKNOWN__ __UNKNOWN__ 14 106725574 106725574 __UNKNOWN__ RNA SNP T T C rs12433829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106725574T>C ENST00000390609.2 - 0 125 immunoglobulin heavy variable 3-23 NA NA NA CTCTTATCCATTCACACTCAA 0.433 NA C||| 281 0.0561102 0.1301 0.0274 5008 , , NA 20303 0.0843 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 101 120 114 NA NA 14 NA 106725574 1890 4119 6009 M99660 14q32.33 2012-02-08 ENSG00000211949 ENSG00000211949 28442 Immunoglobulins / IGH locus 5588 other immunoglobulin gene 611939 NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152091 ENST00000390609.2: chr14.hg19:g.106725574T>C NA hg19 0.02 7.152029 CCAxTCA COVERED NOVEL IGHV3-23-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325188.1 9 11.73543 KEEP 1 0 0 39 1242 TT 1 1 0 - 8 60 314 0 0 21.00825 172 60 6152 279 ENST00000390609.2 0.044444 1 IGHV3-23 28442 __UNKNOWN__ __UNKNOWN__ 14 106725658 106725658 __UNKNOWN__ RNA SNP G G A rs12436700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106725658G>A ENST00000390609.2 - 0 75 immunoglobulin heavy variable 3-23 NA NA NA ACTCCATGGTGAGTTCTCTCT 0.458 NA G||| 240 0.0479233 0.0991 0.0245 5008 , , NA 19080 0.0853 NA 0.001 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G 249,3481 2,245,1618 104 128 120 -0.4 0 14 dbSNP_120 120 13,8191 0,13,4089 no intergenic 2,258,5707 AA,AG,GG 0.1585,6.6756,2.1954 106725658 262,11672 1865 4102 5967 M99660 14q32.33 2012-02-08 ENSG00000211949 ENSG00000211949 28442 Immunoglobulins / IGH locus 5588 other immunoglobulin gene 611939 NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152091 ENST00000390609.2: chr14.hg19:g.106725658G>A NA hg19 0.02 4.452493 GGTxAGT COVERED NOVEL IGHV3-23-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325188.1 8 8.42696 KEEP 0 0 0 28 976 GG 0.999997 0.999997 0 - 25 60 901 0 0 74.675563 102 60 3845 188 ENST00000390609.2 0.19685 1 IGHV3-23 28442 __UNKNOWN__ __UNKNOWN__ 14 106725662 106725662 __UNKNOWN__ RNA SNP T T C rs12433853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106725662T>C ENST00000390609.2 - 0 71 immunoglobulin heavy variable 3-23 NA NA NA CATGGTGAGTTCTCTCTGTTC 0.458 NA C||| 300 0.0599042 0.143 0.0274 5008 , , NA 18991 0.0853 NA 0.001 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 103 125 118 NA NA 14 NA 106725662 1864 4102 5966 M99660 14q32.33 2012-02-08 ENSG00000211949 ENSG00000211949 28442 Immunoglobulins / IGH locus 5588 other immunoglobulin gene 611939 NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152091 ENST00000390609.2: chr14.hg19:g.106725662T>C NA hg19 0.02 5.086675 AGTxCTC COVERED NOVEL IGHV3-23-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325188.1 9 8.125144 KEEP 0 0 0 27 876 TT 0.999988 0.999987 0 - 22 60 810 0 0 66.496547 100 60 3622 182 ENST00000390609.2 0.180328 0.999999 IGHV4-31 28396 __UNKNOWN__ __UNKNOWN__ 14 106805368 106805368 __UNKNOWN__ RNA SNP G G T rs181719892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106805368G>T ENST00000438142.2 - 0 266 immunoglobulin heavy variable 4-31 NA NA NA TCCACTCCAGGCCCTTCCCTG 0.542 NA N||| 414 0.0826677 0.2526 0.0245 5008 , , NA 10624 0.0099 NA 0.0119 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 T 134,3632 15,104,1764 128 193 172 -3.9 0 14 172 65,8153 1,63,4045 no intergenic 16,167,5809 TT,TG,GG 0.7909,3.5582,1.6605 106805368 199,11785 1883 4109 5992 L10098 14q32.33 2012-02-08 ENSG00000231475 ENSG00000231475 28396 Immunoglobulins / IGH locus 5649 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152097 ENST00000438142.2: chr14.hg19:g.106805368G>T NA hg19 0.02 5.989099 CAGxCCC COVERED NOVEL IGHV4-31-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325194.1 0 2.443277 KEEP 5 1 34 20 695 GG 0.999869 0.999869 0 - 6 47 181 0 0 17.618312 5 60 177 237 ENST00000438142.2 0.545455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106813328 106813328 __UNKNOWN__ IGR SNP A A G rs113331382|rs148117084 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106813328A>G NA NA IGHV4-31 (7612 upstream) : IGHV3-33 (2393 downstream) NA NA NA CTTCCTCTGAAAAATATAAGT 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106813328A>G NA hg19 0.02 2.182244 TGAxAAA COVERED NOVEL 0 0 2.407689 KEEP 0 0 0 8 271 AA 0.99257 0.988831 0 7 40 268 0 0 20.304429 62 50 2248 90 0.101449 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106859310 106859310 __UNKNOWN__ IGR SNP T T C rs79463788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106859310T>C NA NA IGHV3-35 (13521 upstream) : IGHV3-38 (7095 downstream) NA NA NA ctggtaatcctggacatgcat 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106859310T>C NA hg19 0.02 3.241851 TCCxGGA COVERED NOVEL 0 3 4.046841 KEEP 24 1 30 24 781 TT 0.999879 0.999868 0 5 27 163 0 0 9.920937 102 60 3846 206 0.046729 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106917052 106917052 __UNKNOWN__ IGR SNP A A C rs61999235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106917052A>C NA NA IGHV4-39 (38926 upstream) : IGHV3-43 (9135 downstream) NA NA NA GGCGTCTGCTACCGGCGCGGC 0.697 NA C||| 632 0.126198 0.0325 0.134 5008 , , NA 8199 0.3085 NA 0.0417 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106917052A>C NA hg19 0.02 -0.394625 GCTxCCG COVERED NOVEL 0 0 2.405186 KEEP 0 0 0 8 224 AA 0.99257 0.919755 0 3 60 110 0 0 7.676731 41 60 1306 56 0.068182 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106919198 106919198 __UNKNOWN__ IGR SNP T T G rs8016990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106919198T>G NA NA IGHV4-39 (41072 upstream) : IGHV3-43 (6989 downstream) NA NA NA CAGTAATAGATGGCCGTGTAC 0.532 NA T||| 659 0.131589 0.0378 0.1254 5008 , , NA 17523 0.3452 NA 0.0437 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106919198T>G NA hg19 0.02 4.793748 AGAxGGC COVERED NOVEL 0 0 3.007774 KEEP 0 0 0 10 290 TT 0.992708 0.992708 0 8 60 298 0 0 21.62361 89 60 3221 173 0.082474 1 IGHV1-45 28466 __UNKNOWN__ __UNKNOWN__ 14 106963101 106963101 __UNKNOWN__ RNA SNP C C T rs7141669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106963101C>T ENST00000390621.2 - 0 238 immunoglobulin heavy variable 1-45 NA NA NA AGCGCTTGTCCGGGGGCCTGT 0.552 NA C||| 660 0.131789 0.0295 0.1225 5008 , , NA 18750 0.3542 NA 0.0447 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C 129,3819 3,123,1848 127 127 127 2.1 0 14 dbSNP_116 127 525,7773 14,497,3638 no intergenic 17,620,5486 TT,TC,CC 6.3268,3.2675,5.3405 106963101 654,11592 1974 4149 6123 X92209 14q32.33 2012-02-08 ENSG00000211961 ENSG00000211961 28466 Immunoglobulins / IGH locus 5553 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000152075 ENST00000390621.2: chr14.hg19:g.106963101C>T NA hg19 0.02 15.710442 GTCxGGG COVERED NOVEL IGHV1-45-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000325169.1 3 12.941194 KEEP 0 0 0 43 1461 CC 1 1 0 - 12 60 461 0 0 28.588163 376 60 13031 525 ENST00000390621.2 0.030928 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106974556 106974556 __UNKNOWN__ IGR SNP T T A rs61996504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106974556T>A NA NA IGHV1-46 (6768 upstream) : IGHV3-48 (19257 downstream) NA NA NA GGCTGTTCATTTGAAGATACA 0.473 NA T||| 2237 0.446685 0.5129 0.3718 5008 , , NA 18038 0.5079 NA 0.2952 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106974556T>A NA hg19 0.02 4.174037 CATxTGA COVERED NOVEL 0 0 3.609451 KEEP 0 0 0 12 347 TT 0.993634 0.993633 0 9 60 320 0 0 21.881379 128 60 4529 171 0.065693 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106974665 106974665 __UNKNOWN__ IGR SNP G G A rs35455417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106974665G>A NA NA IGHV1-46 (6877 upstream) : IGHV3-48 (19148 downstream) NA NA NA TACCCACTCCGGACCCTTCCC 0.572 NA A||| 2271 0.453474 0.5371 0.3718 5008 , , NA 16512 0.5089 NA 0.2952 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106974665G>A NA hg19 0.02 6.696224 TCCxGAC COVERED NOVEL 0 0 5.417079 KEEP 0 0 0 18 619 GG 0.999859 0.999859 0 9 60 340 0 0 23.358325 147 60 5133 208 0.057692 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 106974701 106974701 __UNKNOWN__ IGR SNP A A G rs35202628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106974701A>G NA NA IGHV1-46 (6913 upstream) : IGHV3-48 (19112 downstream) NA NA NA CCAGTGCAGAACATAGCTACT 0.592 NA A||| 2269 0.453075 0.5371 0.3703 5008 , , NA 15949 0.5079 NA 0.2952 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.106974701A>G NA hg19 0.02 4.869313 AGAxCAT COVERED NOVEL 0 0 4.513152 KEEP 0 0 0 15 454 AA 0.99649 0.99649 0 8 60 314 0 0 22.279334 118 60 4137 157 0.063492 1 IGHV3-48 28424 __UNKNOWN__ __UNKNOWN__ 14 106994063 106994063 __UNKNOWN__ RNA SNP C C T rs4774148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:106994063C>T ENST00000390624.2 - 0 180 immunoglobulin heavy variable 3-48 NA NA NA TCAGGGACCCCCCAGGCTGTA 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 76 79 78 NA NA 14 NA 106994063 1829 4066 5895 M99675 14q32.33 2012-02-08 ENSG00000211964 ENSG00000211964 28424 Immunoglobulins / IGH locus 5606 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151959 ENST00000390624.2: chr14.hg19:g.106994063C>T NA hg19 0.02 8.552622 CCCxCCA COVERED NOVEL IGHV3-48-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324605.1 11 5.853903 KEEP 12 1 33 31 1059 CC 0.999997 0.999997 0 - 7 49 254 0 0 15.333263 209 60 7582 309 ENST00000390624.2 0.032407 1 IGHV3-49 28423 __UNKNOWN__ __UNKNOWN__ 14 107013129 107013129 __UNKNOWN__ RNA SNP A A C rs2073674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107013129A>C ENST00000390625.2 - 0 245 immunoglobulin heavy variable 3-49 NA NA NA GCCTGGCGGAACCAGCTCATA 0.552 NA C||| 1966 0.392572 0.5234 0.304 5008 , , NA 16156 0.4246 NA 0.3151 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 T 1864,1898 477,910,494 79 78 78 -0.6 0.1 14 dbSNP_96 78 2540,5664 392,1756,1954 no intergenic 869,2666,2448 CC,CA,AA 30.9605,49.5481,36.8043 107013129 4404,7562 1881 4102 5983 M99676 14q32.33 2012-02-08 ENSG00000211965 ENSG00000211965 28423 Immunoglobulins / IGH locus 5607 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151967 ENST00000390625.2: chr14.hg19:g.107013129A>C NA hg19 0.02 13.772879 GGAxCCA COVERED NOVEL IGHV3-49-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324613.1 1 6.95257 KEEP 0 1 37 36 1086 AA 1 1 0 - 13 60 490 0 0 31.113766 335 60 11903 473 ENST00000390625.2 0.037356 1 IGHV3-53 28420 __UNKNOWN__ __UNKNOWN__ 14 107048765 107048765 __UNKNOWN__ RNA SNP T T C rs201057593 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107048765T>C ENST00000390627.2 - 0 475 immunoglobulin heavy variable 3-53 NA NA NA AGATGGTGAATCGGCCCTTCA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA M99679 14q32.33 2012-02-08 ENSG00000211967 ENSG00000211967 28420 Immunoglobulins / IGH locus 5610 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151966 ENST00000390627.2: chr14.hg19:g.107048765T>C NA hg19 0.02 34.588964 GAAxCGG COVERED NOVEL IGHV3-53-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324612.1 17 26.079791 KEEP 8 1 38 100 3113 TT 1 1 0 - 21 48 770 0 0 45.660738 712 60 25958 1082 ENST00000390627.2 0.028649 1 IGHV3-53 28420 __UNKNOWN__ __UNKNOWN__ 14 107048786 107048786 __UNKNOWN__ RNA SNP G G A rs143408345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107048786G>A ENST00000390627.2 - 0 454 immunoglobulin heavy variable 3-53 NA NA NA CGGAGTCTGCGTAGTATGTGC 0.547 NA g||| 47 0.00938498 0.0129 0.0115 5008 , , NA 18879 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA M99679 14q32.33 2012-02-08 ENSG00000211967 ENSG00000211967 28420 Immunoglobulins / IGH locus 5610 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151966 ENST00000390627.2: chr14.hg19:g.107048786G>A NA hg19 0.02 37.610806 TGCxTAG COVERED NOVEL IGHV3-53-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324612.1 23 27.220767 KEEP 0 1 33 102 3480 GG 1 1 0 - 31 48 1145 0 0 72.600899 757 60 26177 1150 ENST00000390627.2 0.03934 1 IGHV4-61 28391 __UNKNOWN__ __UNKNOWN__ 14 107095326 107095326 __UNKNOWN__ RNA SNP C C T rs1064309|rs539649436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107095326C>T ENST00000390630.2 - 0 254 immunoglobulin heavy variable 4-61 NA NA NA CAGTAGTAACCACCACTGCTG 0.602 NA .||| 4757 0.94988 0.9402 0.9942 5008 , , NA 7467 1.0 NA 0.9851 False NA ,,, NA NA NA 2504 0.8436 NA NA NA NA 0 41 73 63 NA NA 14 NA 107095326 1783 4047 5830 M29811 14q32.33 2012-02-08 ENSG00000211970 ENSG00000211970 28391 Immunoglobulins / IGH locus 5655 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151976 ENST00000390630.2: chr14.hg19:g.107095326C>T NA hg19 0.02 4.199941 AACxACC COVERED NOVEL IGHV4-61-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324623.1 6 4.248568 KEEP 4 1 31 25 887 CC 0.999957 0.999957 0 - 6 60 225 2 0 24.115581 1 60 40 204 ENST00000390630.2 0.857143 1 IGHV4-61 28391 __UNKNOWN__ __UNKNOWN__ 14 107095450 107095450 __UNKNOWN__ RNA SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107095450C>A ENST00000390630.2 - 0 147 immunoglobulin heavy variable 4-61 NA NA NA ACAGAGAGACCCACAGTGAGC 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 18 34 29 NA NA 14 NA 107095450 1775 4037 5812 M29811 14q32.33 2012-02-08 ENSG00000211970 ENSG00000211970 28391 Immunoglobulins / IGH locus 5655 other immunoglobulin gene NA Standard NG_001019 NG_001019 NA Approved OTTHUMG00000151976 ENST00000390630.2: chr14.hg19:g.107095450C>A NA hg19 0.02 -0.342136 GACxCAC UNCOVERED NOVEL IGHV4-61-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000324623.1 5 2.407804 KEEP 22 0 0 8 282 CC 0 0 0 - 6 40 197 0 0 21.31421 1 7 35 75 ENST00000390630.2 0.857143 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107099216 107099216 __UNKNOWN__ IGR SNP G G A rs2904630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107099216G>A NA NA IGHV4-61 (3554 upstream) : IGHV3-64 (14524 downstream) NA NA NA CATTGTCTCTGGAGATGGTGA 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.107099216G>A NA hg19 0.02 9.542892 TCTxGAG COVERED NOVEL 0 6 3.747745 KEEP 1 1 33 24 857 GG 0.999931 0.999931 0 21 60 774 0 0 62.531898 108 60 4126 286 0.162791 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107099230 107099230 __UNKNOWN__ IGR SNP G G A rs2904629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107099230G>A NA NA IGHV4-61 (3568 upstream) : IGHV3-64 (14510 downstream) NA NA NA ATGGTGAATCGGCCCTTCACA 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.107099230G>A NA hg19 0.02 9.769094 ATCxGCC COVERED NOVEL 0 4 3.546468 KEEP 3 1 32 23 811 GG 0.999909 0.999909 0 17 60 638 0 0 50.590499 104 60 3477 289 0.140496 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107183863 107183863 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107183863G>A NA NA IGHV2-70 (4525 upstream) : IGHV3-72 (15068 downstream) NA NA NA TCCATGGTGAGTCCTCTGTGT 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.107183863G>A NA hg19 0.02 -0.3597 TGAxTCC COVERED NOVEL 0 0 3.912415 KEEP 6 0 0 13 459 GG 0.993072 0.882717 0 3 27 111 0 0 7.871377 38 60 1404 68 0.073171 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107280871 107280871 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107280871C>A NA NA hsa-mir-5195 (21657 upstream) : IGHV7-81 (1920 downstream) NA NA NA GAGGGAGAGCCCTGAGCAGAT 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.107280871C>A NA hg19 0.02 -0.279514 AGCxCTG COVERED NOVEL 0 3 4.815675 KEEP 1 0 0 16 564 CC 0.997832 0.738068 0 5 46 146 0 0 11.159037 25 60 854 60 0.166667 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 14 107280945 107280945 __UNKNOWN__ IGR SNP G G A rs376727757 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr14:107280945G>A NA NA hsa-mir-5195 (21731 upstream) : IGHV7-81 (1846 downstream) NA NA NA GGCCCCGCGCGCCCCCTGCTG 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr14.hg19:g.107280945G>A NA hg19 0.02 -0.333203 CGCxCCC COVERED NOVEL 0 2 3.310117 KEEP 1 0 0 11 361 GG 0.993072 0.846082 0 3 46 99 0 0 6.932476 31 60 998 58 0.088235 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20083897 20083897 __UNKNOWN__ IGR SNP T T C rs77268860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20083897T>C NA NA None (None upstream) : RNU6-978P (4969 downstream) NA NA NA TCCTTGATGGTGAAAACAGGA 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20083897T>C NA hg19 0.02 3.496449 TGGxGAA COVERED NOVEL 0 0 4.213089 KEEP 4 0 0 14 450 TT 0.995343 0.995343 0 8 40 262 0 0 16.867411 126 60 4608 186 0.059701 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20083910 20083910 __UNKNOWN__ IGR SNP C C A rs79636314 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20083910C>A NA NA None (None upstream) : RNU6-978P (4956 downstream) NA NA NA AAACAGGACACCTCTGATGAA 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20083910C>A NA hg19 0.02 4.178392 ACAxCTC COVERED NOVEL 0 0 4.213802 KEEP 3 0 0 14 500 CC 0.995343 0.995343 0 11 40 403 0 0 28.857277 128 60 4631 182 0.079137 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20105683 20105683 __UNKNOWN__ IGR SNP A A G rs141658248 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20105683A>G NA NA RNU6-978P (16714 upstream) : IGHV1OR15-9 (64235 downstream) NA NA NA tggatcccttaagtcaaggag 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20105683A>G NA hg19 0.02 -0.175463 CTTxAGT COVERED NOVEL 0 3 2.407284 KEEP 3 0 0 8 251 AA 0.99257 0.384528 0 5 40 185 0 0 16.00143 15 60 542 38 0.25 0.387407 IGHV1OR15-9 390531 __UNKNOWN__ __UNKNOWN__ 15 20170150 20170150 __UNKNOWN__ RNA SNP C C T rs10431885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20170150C>T ENST00000338912.5 - 0 121 immunoglobulin heavy variable 1/OR15-9 (non-functional) NA NA NA AGAAGCCTTGCAGGAGATCCT 0.577 NA .||| 1227 0.245008 0.1778 0.2493 5008 , , NA 19363 0.4117 NA 0.2396 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 C TYR/CYS 614,3238 42,530,1354 82 78 80 122 0.9 0.1 15 dbSNP_119 80 1696,6578 174,1348,2615 no missense VSIG7 XM_003403542.1 194 216,1878,3969 TT,TC,CC 20.4979,15.9398,19.05 41/121 20170150 2310,9816 1926 4137 6063 L25542 15q11.1 2013-10-18 2008-08-22 ENSG00000188403 ENSG00000188403 390531 Immunoglobulins / IGH orphons 5569 other immunoglobulin gene immunoglobulin heavy variable 1/OR15-9, V-set and immunoglobulin domain containing 7 VSIG7 NA 7959766 Standard NG_032069 NA Approved IGHV1/OR15-9, IGHV1OR159 OTTHUMG00000171652 ENST00000338912.5: chr15.hg19:g.20170150C>T NA hg19 0.02 10.351843 TTGxAGG COVERED NOVEL IGHV1OR15-9-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000414646.4 2 4.213479 KEEP 3 0 0 14 484 CC 0.994391 0.994391 0 - 11 60 388 0 0 24.260755 250 60 9428 307 ENST00000338912.5 0.042146 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20178288 20178288 __UNKNOWN__ IGR SNP T T C rs2301538 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20178288T>C NA NA IGHV1OR15-9 (7934 upstream) : IGHV3OR15-7 (14620 downstream) NA NA NA ACTGAGGCTCTAGGCTTCTTC 0.557 NA .||| 1465 0.292532 0.3427 0.2709 5008 , , NA 19249 0.4157 NA 0.2406 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20178288T>C NA hg19 0.02 8.498733 CTCxAGG COVERED NOVEL 0 0 5.11538 KEEP 0 0 0 17 534 TT 0.999366 0.999366 0 8 60 296 0 0 18.28071 226 60 8029 273 0.034188 1 IGHV3OR15-7 28318 __UNKNOWN__ __UNKNOWN__ 15 20193260 20193260 __UNKNOWN__ RNA SNP C C G rs1844533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20193260C>G ENST00000558565.2 - 0 46 immunoglobulin heavy variable 3/OR15-7 (pseudogene) NA NA NA AACTGCCACACAAATCCACTG 0.512 NA .||| 3589 0.716653 0.6089 0.7291 5008 , , NA 18491 0.8323 NA 0.7366 False NA ,,, NA NA NA 2504 0.7137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Z29597 15q11.2 2012-06-12 2011-04-15 ENSG00000259490 ENSG00000259490 28318 Immunoglobulins / IGH orphons 5633 pseudogene immunoglobulin pseudogene immunoglobulin heavy variable 3/OR15-7, immunoglobulin heavy variable 3/OR15-7 pseudogene NA Standard NA Approved IGHV3/OR15-7 OTTHUMG00000171835 ENST00000558565.2: chr15.hg19:g.20193260C>G NA hg19 0.02 9.928898 ACAxAAA COVERED NOVEL IGHV3OR15-7-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000415305.2 7 10.83525 KEEP 5 0 0 36 1290 CC 0.999997 0.999997 0 - 11 60 429 0 0 29.232752 207 60 7918 324 ENST00000558565.2 0.050459 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20251933 20251933 __UNKNOWN__ IGR SNP G G C rs142084388 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20251933G>C NA NA IGHD1OR15-1A (35511 upstream) : RN7SL584P (49054 downstream) NA NA NA TGGTAGCTGAGATATGTTTGT 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20251933G>C NA hg19 0.02 2.000199 TGAxATA COVERED NOVEL 0 0 2.708837 KEEP 8 0 0 9 322 GG 0.99257 0.98769 0 13 47 434 0 0 35.288548 54 50 2038 87 0.19403 0.995084 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20439573 20439573 __UNKNOWN__ IGR SNP T T C rs201547501 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20439573T>C NA NA RP11-173D3.1 (86367 upstream) : CHEK2P2 (48423 downstream) NA NA NA cttactctgttgccccggctg 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20439573T>C NA hg19 0.02 -0.210553 TGTxGCC COVERED NOVEL 0 2 2.708193 KEEP 0 0 0 9 280 TT 0.99254 0.518266 0 3 60 106 0 0 8.16422 20 60 731 46 0.130435 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20439579 20439579 __UNKNOWN__ IGR SNP G G A rs199746822 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20439579G>A NA NA RP11-173D3.1 (86373 upstream) : CHEK2P2 (48417 downstream) NA NA NA ctgttgccccggctggagtac 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20439579G>A NA hg19 0.02 -0.20175 CCCxGCT COVERED NOVEL 0 3 2.983483 KEEP 1 0 0 10 330 GG 0.99254 0.486885 0 3 60 105 0 0 8.126592 19 60 669 47 0.136364 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20444702 20444702 __UNKNOWN__ IGR SNP C C T rs201397924 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20444702C>T NA NA RP11-173D3.1 (91496 upstream) : CHEK2P2 (43294 downstream) NA NA NA ATCTCGATCTCGTCCTCACCA 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20444702C>T NA hg19 0.02 31.66693 TCTxGTC COVERED NOVEL 0 6 18.274175 KEEP 1 4 111 100 3395 CC 1 1 0 30 33 1005 0 0 59.070957 808 60 29725 1155 0.0358 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20448358 20448358 __UNKNOWN__ IGR SNP G G A rs9673068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20448358G>A NA NA RP11-173D3.1 (95152 upstream) : CHEK2P2 (39638 downstream) NA NA NA gtgaaaccccgtctctattaa 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20448358G>A NA hg19 0.02 4.256082 CCCxTCT COVERED NOVEL 0 5 2.943725 KEEP 2 1 29 20 689 GG 0.999863 0.999863 0 22 60 765 0 0 60.651174 117 60 4254 168 0.158273 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20450052 20450052 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20450052C>T NA NA RP11-173D3.1 (96846 upstream) : CHEK2P2 (37944 downstream) NA NA NA GCAGCCCTCCCTGTGCCAAGC 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20450052C>T NA hg19 0.02 8.154766 TCCxTGT COVERED NOVEL 0 2 2.643259 KEEP 1 1 32 20 700 CC 0.999863 0.999863 0 9 27 321 0 0 20.386563 195 60 6938 235 0.044118 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20450433 20450433 __UNKNOWN__ IGR SNP G G T rs60793038 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20450433G>T NA NA RP11-173D3.1 (97227 upstream) : CHEK2P2 (37563 downstream) NA NA NA CCAAGAGGTTGGACGTTCTCT 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20450433G>T NA hg19 0.02 8.824344 GTTxGAC COVERED NOVEL 0 4 3.912706 KEEP 0 0 0 13 453 GG 0.994391 0.994391 0 33 60 1220 0 0 96.673327 197 60 7048 256 0.143478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20453913 20453913 __UNKNOWN__ IGR SNP C C T rs2601516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20453913C>T NA NA RP11-173D3.1 (100707 upstream) : CHEK2P2 (34083 downstream) NA NA NA CAGAGGGACACACACCCAGCT 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20453913C>T NA hg19 0.02 9.681365 ACAxACA COVERED NOVEL 0 1 4.212232 KEEP 0 0 0 14 471 CC 0.995343 0.995343 0 41 60 1424 0 0 118.83096 150 60 5535 264 0.21466 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20453932 20453932 __UNKNOWN__ IGR SNP T T G rs60565633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20453932T>G NA NA RP11-173D3.1 (100726 upstream) : CHEK2P2 (34064 downstream) NA NA NA CTGTCGGCGCTGCTGATCATT 0.597 NA t||| 614 0.122604 0.1528 0.0216 5008 , , NA 50354 0.2381 NA 0.0388 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20453932T>G NA hg19 0.02 7.722902 CGCxGCT COVERED NOVEL 0 2 2.304237 KEEP 3 1 26 17 484 TT 0.999859 0.999859 0 13 60 387 0 0 23.848072 207 60 7599 297 0.059091 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20462792 20462792 __UNKNOWN__ IGR SNP T T G rs62009635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20462792T>G NA NA RP11-173D3.1 (109586 upstream) : CHEK2P2 (25204 downstream) NA NA NA TTAttattattattttattta 0.418 NA t||| 1816 0.36262 0.3116 0.33 5008 , , NA 50114 0.3065 NA 0.4245 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20462792T>G NA hg19 0.02 2.234921 TATxATT COVERED NOVEL 0 2 3.610822 KEEP 0 0 0 12 372 TT 0.993634 0.985778 0 4 60 154 2 2 10.839852 59 60 2041 79 0.063492 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20483958 20483958 __UNKNOWN__ IGR SNP T T C rs71466670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20483958T>C NA NA RP11-173D3.1 (130752 upstream) : CHEK2P2 (4038 downstream) NA NA NA ccactgtgcctggccaattcg 0.428 NA T||| 318 0.0634984 0.0484 0.0548 5008 , , NA 56402 0.001 NA 0.0954 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20483958T>C NA hg19 0.02 -0.131597 GCCxGGC COVERED NOVEL 0 3 2.708418 KEEP 2 0 0 9 289 TT 0.99257 0.22747 0 3 60 105 0 0 8.671779 12 60 451 34 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 20563135 20563135 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:20563135G>C NA NA RP11-509A17.3 (1342 upstream) : AC026495.1 (225 downstream) NA NA NA TGGGGGCCTGGTGTCCTGAGG 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.20563135G>C NA hg19 0.02 4.958574 CTGxTGT COVERED NOVEL 0 0 4.940052 KEEP 0 1 36 29 995 GG 0.999997 0.999994 0 9 60 322 0 0 22.760371 107 60 3699 183 0.077586 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21008517 21008517 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21008517T>C NA NA AC012414.1 (3150 upstream) : MIR3118-4 (29606 downstream) NA NA NA GAGATATTCCTAACACAGAGT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21008517T>C NA hg19 0.02 11.490474 TCCxAAC COVERED NOVEL 0 2 10.223747 KEEP 218 0 0 34 1026 TT 0.993072 0.993072 0 9 27 341 0 0 21.134254 270 50 10214 516 0.032258 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21903097 21903097 __UNKNOWN__ IGR SNP C C T rs59457363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21903097C>T NA NA RP11-854K16.3 (567673 upstream) : RP11-32B5.7 (38049 downstream) NA NA NA TTGGTTATTACGGTCTAAAAT 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21903097C>T NA hg19 0.02 8.371864 TTAxGGT COVERED NOVEL 0 2 3.009331 KEEP 0 0 0 10 328 CC 0.992708 0.992708 0 11 60 403 0 0 26.982392 192 60 6288 224 0.054187 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21924524 21924524 __UNKNOWN__ IGR SNP T T C rs112616591 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21924524T>C NA NA RP11-854K16.3 (589100 upstream) : RP11-32B5.7 (16622 downstream) NA NA NA AGAGGTTTGGTTTGGTACATC 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21924524T>C NA hg19 0.02 -0.114046 TGGxTTG UNCOVERED NOVEL 0 2 3.008739 KEEP 0 0 0 10 301 TT 0.992708 0.161282 0 3 60 114 0 0 9.781681 10 60 347 27 0.230769 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21932871 21932871 __UNKNOWN__ IGR SNP G G A rs7167262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21932871G>A NA NA RP11-854K16.3 (597447 upstream) : RP11-32B5.7 (8275 downstream) NA NA NA AAAGACTTCCGTTCTTTCAAG 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21932871G>A NA hg19 0.02 4.323835 TCCxTTC COVERED NOVEL 0 3 2.40732 KEEP 0 0 0 8 259 GG 0.99257 0.992569 0 11 60 397 0 0 28.99034 109 60 3612 131 0.091667 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21934518 21934518 __UNKNOWN__ IGR SNP G G T rs11248828 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21934518G>T NA NA RP11-854K16.3 (599094 upstream) : RP11-32B5.7 (6628 downstream) NA NA NA CATCTCGTTGGTTTTCTATTT 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21934518G>T NA hg19 0.02 18.734834 TTGxTTT COVERED NOVEL 0 2 7.222732 KEEP 0 0 0 24 809 GG 0.999909 0.999909 0 75 60 2605 0 0 204.792117 422 60 15220 529 0.150905 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21935281 21935281 __UNKNOWN__ IGR SNP G G A rs11858459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21935281G>A NA NA RP11-854K16.3 (599857 upstream) : RP11-32B5.7 (5865 downstream) NA NA NA ATACTCTGTCGCTCAAGTTCT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21935281G>A NA hg19 0.02 17.682086 GTCxCTC COVERED NOVEL 0 3 6.559978 KEEP 0 4 126 66 2321 GG 1 1 0 60 60 2119 0 0 165.847592 359 60 12670 643 0.143198 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21935445 21935445 __UNKNOWN__ IGR SNP G G A rs28542611 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21935445G>A NA NA RP11-854K16.3 (600021 upstream) : RP11-32B5.7 (5701 downstream) NA NA NA CAAGGTTCACGTCTCTCACTC 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21935445G>A NA hg19 0.02 18.321968 CACxTCT COVERED NOVEL 0 2 5.851984 KEEP 0 1 33 31 1007 GG 0.999997 0.999997 0 57 60 2075 0 0 161.663336 373 60 12634 509 0.132558 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21936786 21936786 __UNKNOWN__ IGR SNP C C A rs8026306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21936786C>A NA NA RP11-854K16.3 (601362 upstream) : RP11-32B5.7 (4360 downstream) NA NA NA GCACAAGGCCCTCAAGGGATT 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21936786C>A NA hg19 0.02 13.864503 GCCxTCA COVERED NOVEL 0 2 3.080887 KEEP 0 2 65 33 1201 CC 0.999999 0.999999 0 37 60 1348 0 0 101.312251 312 60 11619 469 0.106017 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21936925 21936925 __UNKNOWN__ IGR SNP C C T rs28423023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21936925C>T NA NA RP11-854K16.3 (601501 upstream) : RP11-32B5.7 (4221 downstream) NA NA NA GGCGTTCTGACCACGGTACTG 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21936925C>T NA hg19 0.02 9.218316 TGAxCAC COVERED NOVEL 0 3 2.879508 KEEP 0 2 64 32 1131 CC 0.999998 0.999998 0 43 60 1543 0 0 125.737397 198 60 7232 317 0.178423 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21937168 21937168 __UNKNOWN__ IGR SNP C C T rs12185110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21937168C>T NA NA RP11-854K16.3 (601744 upstream) : RP11-32B5.7 (3978 downstream) NA NA NA AGGTATTCCACGACCACAAAC 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21937168C>T NA hg19 0.02 6.649003 CCAxGAC COVERED NOVEL 0 3 2.541746 KEEP 0 1 33 20 650 CC 0.999869 0.999869 0 23 60 846 0 0 65.472282 161 60 5548 221 0.125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 21937658 21937658 __UNKNOWN__ IGR SNP C C T rs28502402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:21937658C>T NA NA RP11-854K16.3 (602234 upstream) : RP11-32B5.7 (3488 downstream) NA NA NA TCTGTTCCCTCGGCATTCAGT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.21937658C>T NA hg19 0.02 16.475865 CCTxGGC COVERED NOVEL 0 3 2.908424 KEEP 0 3 89 41 1371 CC 1 1 0 54 60 1941 0 0 153.164338 315 60 11281 455 0.146341 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22140359 22140359 __UNKNOWN__ IGR SNP G G A rs112294815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22140359G>A NA NA POTEB (57537 upstream) : MIR5701-2 (16406 downstream) NA NA NA GTGAGACAATGTCAGGATTCA 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22140359G>A NA hg19 0.02 8.98569 AATxTCA COVERED NOVEL 0 1 7.22383 KEEP 40 0 0 24 874 GG 0.997832 0.997832 0 7 49 266 0 0 16.417083 217 50 8382 327 0.03125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22156928 22156928 __UNKNOWN__ IGR SNP G G C rs150801989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22156928G>C NA NA MIR5701-2 (81 upstream) : RP11-928F19.5 (38693 downstream) NA NA NA agtatataaggtatgctaagg 0.522 NA G||| 1929 0.385184 0.1581 0.5447 5008 , , NA 21329 0.3929 NA 0.4602 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22156928G>C NA hg19 0.02 7.567572 AAGxTAT COVERED NOVEL 0 4 4.815501 KEEP 0 0 0 16 551 GG 0.997832 0.997832 0 17 60 617 0 0 46.345767 142 60 5257 198 0.106918 1 RP11-69H14.6 0 __UNKNOWN__ __UNKNOWN__ 15 22319497 22319497 __UNKNOWN__ RNA SNP G G C rs1366875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22319497G>C ENST00000558896.1 + 0 194 NA NA NA AAGTAGAACTGTGCAAAACAA 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000558896.1: chr15.hg19:g.22319497G>C NA hg19 0.02 30.47806 ACTxTGC COVERED NOVEL RP11-69H14.6-001 KNOWN basic sense_overlapping NA sense_overlapping OTTHUMT00000417625.1 7 31.602127 KEEP 1 0 0 105 3713 GG 1 1 0 + 20 60 778 0 0 48.030054 671 60 25780 1013 ENST00000558896.1 0.028944 1 OR4M2 390538 __UNKNOWN__ __UNKNOWN__ 15 22369290 22369290 __UNKNOWN__ Missense_Mutation SNP A A G rs12593418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22369290A>G ENST00000332663.2 + 1 813 c.715A>G c.(715-717)Atg>Gtg p.M239V RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 239 NA M -> V (in dbSNP:rs12593418). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.M239V(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CAACAGGGCCATGTCCACCTG 0.453 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 288 199 229 NA NA 15 NA 22369290 2203 4300 6503 SO:0001583 missense AC060768 CCDS32172.1 15q11.2 2013-09-23 ENSG00000182974 ENSG00000182974 390538 GPCR / Class A : Olfactory receptors 15373 protein-coding gene gene with protein product NA Standard NM_001004719 NA Approved uc010tzu.2 Q8NGB6 OTTHUMG00000171738 ENST00000332663.2:c.715A>G chr15.hg19:g.22369290A>G ENSP00000329467:p.Met239Val NA B9EH16|Q6IEY2 hg19 CCDS32172.1 0.02 27.390573 GCCxTGT COVERED 566 0.2591575091575092 57 0.11585365853658537 114 0.3149171270718232 177 0.3094405594405594 218 0.287598944591029 . 6.608 0.480486 0.12581 . . ENSG00000182974 ENST00000332663 T 0.00044 8.83 2.28 -0.1 0.13621 GPCR, rhodopsin-like superfamily (1); 0.309717 0.27139 N 0.020757 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.31806 -0.9930 9 0.72032 D 0.01 -4.5993 5.3649 0.16107 0.6814:0.0:0.3186:0.0 rs12593418 239 Q8NGB6 OR4M2_HUMAN V 239 ENSP00000329467:M239V ENSP00000329467:M239V M + 1 0 OR4M2 19870654 0.000000 0.05858 0.993000 0.49108 0.973000 0.67179 -1.357000 0.02607 0.160000 0.19432 0.368000 0.22195 ATG NOVEL OR4M2-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414921.1 3 16.380665 KEEP 59 1 33 66 2049 AA 1 1 0 + 29 50 988 0 0 59.821735 695 50 25429 944 ENST00000332663.2 0.040055 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22413717 22413717 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22413717C>T NA NA RP11-69H14.6 (29909 upstream) : RP11-2F9.4 (20172 downstream) NA NA NA GGTGGACTTCCTCTCTGAGAA 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22413717C>T NA hg19 0.02 6.995515 TTCxTCT COVERED NOVEL 0 2 6.621039 KEEP 20 0 0 22 750 CC 0.999859 0.999859 0 7 49 234 0 0 13.791072 180 50 6566 258 0.037433 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22440816 22440816 __UNKNOWN__ IGR SNP A A G rs4505267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22440816A>G NA NA RP11-2F9.4 (4639 upstream) : IGHV1OR15-1 (7565 downstream) NA NA NA GTTTTGTGGCACTTGTGCCAG 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22440816A>G NA hg19 0.02 8.401638 GGCxCTT COVERED NOVEL 0 1 9.626216 KEEP 0 0 0 32 979 AA 0.999997 0.999997 0 9 60 312 0 0 19.352304 202 60 7044 299 0.042654 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22546441 22546441 __UNKNOWN__ IGR SNP G G C rs8033825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22546441G>C NA NA MIR1268A (33161 upstream) : MIR4509-2 (128706 downstream) NA NA NA TTCGGCTCGTGCCTGGAGGAC 0.667 NA .||| 1561 0.311701 0.0885 0.3977 5008 , , NA 14226 0.3056 NA 0.4592 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22546441G>C NA hg19 0.02 -0.376235 CGTxCCT COVERED NOVEL 0 0 3.309718 KEEP 3 0 0 11 353 GG 0.992708 0.90244 0 3 60 111 0 0 7.810864 40 60 1421 71 0.069767 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 22692211 22692211 __UNKNOWN__ IGR SNP G G C rs200274223 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22692211G>C NA NA MIR4509-2 (16970 upstream) : GOLGA8DP (12509 downstream) NA NA NA GGGTGACTTTGGTCAGTTTCC 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.22692211G>C NA hg19 0.02 1.83919 TTTxGTC COVERED NOVEL 0 0 2.648807 KEEP 9 1 14 14 464 GG 0.993634 0.991846 0 8 47 285 0 0 21.311619 66 48 2415 112 0.108108 0.9982 GOLGA8DP 100132979 __UNKNOWN__ __UNKNOWN__ 15 22706219 22706219 __UNKNOWN__ RNA SNP A A G rs62010859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22706219A>G ENST00000314246.8 - 0 1651 Q0D2H9 GOG8D_HUMAN golgin A8 family, member D, pseudogene NA NA Golgi apparatus (GO:0005794) NA CAGCTTCTCCATGACTTCCTG 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 15q11.2 2014-04-10 2011-04-15 2010-02-12 ENSG00000185182 ENSG00000185182 100132979 32376 pseudogene pseudogene golgi autoantigen, golgin subfamily a, 8D GOLGA8D NA 12477932 Standard NR_027407 NR_027407 NA Approved uc010axw.2 Q0D2H9 OTTHUMG00000171882 ENST00000314246.8: chr15.hg19:g.22706219A>G NA hg19 0.02 -0.350897 TCCxTGA UNCOVERED NOVEL GOLGA8DP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000415613.1 0 5.416444 KEEP 59 0 0 18 562 AA 0 0 0 - 8 25 285 0 0 23.625906 32 46 1150 123 ENST00000314246.8 0.2 0.877708 TUBGCP5 114791 __UNKNOWN__ __UNKNOWN__ 15 22840279 22840279 __UNKNOWN__ Silent SNP G G T rs61744212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22840279G>T ENST00000283645.4 + 4 475 c.345G>T c.(343-345)ctG>ctT p.L115L TUBGCP5_ENST00000453949.2_Silent_p.L115L NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 115 NA G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922) microtubule binding (GO:0008017) breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CACTTCTTCTGTGTCTGTCAG 0.358 NA G||| 679 0.135583 0.0363 0.0389 5008 , , NA 17876 0.4504 NA 0.0885 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 G , 208,4198 4,200,1999 125 119 121 345,345 0.6 1 15 dbSNP_129 121 846,7754 47,752,3501 no coding-synonymous,coding-synonymous TUBGCP5 NM_001102610.1,NM_052903.4 , 51,952,5500 TT,TG,GG 9.8372,4.7208,8.104 , 115/1025,115/1025 22840279 1054,11952 2203 4300 6503 SO:0001819 synonymous_variant AB067486 CCDS73697.1, CCDS73698.1 15q11.1 2014-04-17 ENSG00000153575 ENSG00000275835 114791 18600 protein-coding gene gene with protein product gamma-tubulin complex component GCP5 608147 NA 11694571 Standard NM_052903 NM_052903 NA Approved GCP5, KIAA1899 uc001yur.4 Q96RT8 OTTHUMG00000188371 ENST00000283645.4:c.345G>T chr15.hg19:g.22840279G>T NA E9PB12|Q6IQ52|Q96PY8 hg19 CCDS10008.1 0.02 1.746209 TCTxTGT COVERED NOVEL TUBGCP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250998.2 1 11.136683 KEEP 0 0 0 37 1336 GG 1 0.99993 0 + 4 60 145 0 0 9.19111 92 60 3513 179 ENST00000283645.4 0.041667 0.99993 TUBGCP5 114791 __UNKNOWN__ __UNKNOWN__ 15 22873325 22873325 __UNKNOWN__ 3'UTR SNP A A G rs1046860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22873325A>G ENST00000283645.4 + 0 3282 NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922) microtubule binding (GO:0008017) breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TGAAAAGTGAAAATATTTTTA 0.418 NA G||| 896 0.178914 0.1929 0.0447 5008 , , NA 20005 0.4494 NA 0.0934 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G 281,1103 30,221,441 96 77 83 -1.2 0 15 dbSNP_86 83 317,2865 19,279,1293 no utr-3 TUBGCP5 NM_052903.4 49,500,1734 GG,GA,AA 9.9623,20.3035,13.0968 22873325 598,3968 692 1591 2283 SO:0001624 3_prime_UTR_variant AB067486 CCDS73697.1, CCDS73698.1 15q11.1 2014-04-17 ENSG00000153575 ENSG00000275835 114791 18600 protein-coding gene gene with protein product gamma-tubulin complex component GCP5 608147 NA 11694571 Standard NM_052903 NM_052903 NA Approved GCP5, KIAA1899 uc001yur.4 Q96RT8 OTTHUMG00000188371 ENST00000283645.4:c.*77A>G chr15.hg19:g.22873325A>G NA E9PB12|Q6IQ52|Q96PY8 hg19 CCDS10008.1 0.02 23.176619 TGAxAAT COVERED NOVEL TUBGCP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250998.2 6 25.273247 KEEP 0 0 0 84 2688 AA 1 1 0 + 15 60 566 0 0 34.349216 498 60 18030 733 ENST00000283645.4 0.02924 1 CYFIP1 23191 __UNKNOWN__ __UNKNOWN__ 15 22962359 22962359 __UNKNOWN__ Intron SNP C C T rs72698053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22962359C>T ENST00000313077.7 + 19 2284 CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000435939.2_Intron NM_014608.2 NP_055423.1 cytoplasmic FMR1 interacting protein 1 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) GATTTTGATACAAAACGTTTC 0.348 NA C||| 693 0.138379 0.208 0.1729 5008 , , NA 18282 0.121 NA 0.0775 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 C , 931,3475 356.4+/-313.5 96,739,1368 139 136 137 , -2.5 0 15 dbSNP_130 137 784,7816 183.7+/-231.9 52,680,3568 no intron,intron CYFIP1 NM_001033028.1,NM_014608.2 , 148,1419,4936 TT,TC,CC 9.1163,21.1303,13.1862 , , 22962359 1715,11291 2203 4300 6503 SO:0001627 intron_variant D38549 CCDS73695.1, CCDS73696.1 15q11 2008-07-18 ENSG00000068793 ENSG00000273749 23191 13759 protein-coding gene gene with protein product selective hybridizing clone, cytoplasmic FMRP interacting protein 1 606322 NA 11438699 Standard NM_014608 XM_005272543 NA Approved KIAA0068, P140SRA-1, SHYC uc001yus.3 Q7L576 OTTHUMG00000129100 ENST00000313077.7:c.2159+28C>T chr15.hg19:g.22962359C>T NA hg19 CCDS10009.1 0.02 8.921923 ATAxAAA COVERED NOVEL CYFIP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251136.2 0 11.135942 KEEP 0 0 0 37 1295 CC 1 1 0 + 10 60 337 0 0 20.935712 210 60 7570 288 ENST00000313077.7 0.045455 1 CYFIP1 23191 __UNKNOWN__ __UNKNOWN__ 15 22963733 22963733 __UNKNOWN__ Intron SNP C C T rs72698056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:22963733C>T ENST00000313077.7 + 21 2393 CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000435939.2_Intron NM_014608.2 NP_055423.1 cytoplasmic FMR1 interacting protein 1 NA NA endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTTTACCTGCCATCCTTCCCT 0.527 NA C||| 403 0.0804712 0.0098 0.1427 5008 , , NA 18922 0.121 NA 0.0736 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 C , 105,4301 83.4+/-121.9 2,101,2100 114 102 106 , -3 0 15 dbSNP_130 106 767,7833 181.6+/-230.3 50,667,3583 no intron,intron CYFIP1 NM_001033028.1,NM_014608.2 , 52,768,5683 TT,TC,CC 8.9186,2.3831,6.7046 , , 22963733 872,12134 2203 4300 6503 SO:0001627 intron_variant D38549 CCDS73695.1, CCDS73696.1 15q11 2008-07-18 ENSG00000068793 ENSG00000273749 23191 13759 protein-coding gene gene with protein product selective hybridizing clone, cytoplasmic FMRP interacting protein 1 606322 NA 11438699 Standard NM_014608 XM_005272543 NA Approved KIAA0068, P140SRA-1, SHYC uc001yus.3 Q7L576 OTTHUMG00000129100 ENST00000313077.7:c.2269-22C>T chr15.hg19:g.22963733C>T NA hg19 CCDS10009.1 0.02 4.20595 TGCxATC COVERED NOVEL CYFIP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251136.2 1 7.223304 KEEP 0 0 0 24 829 CC 0.999909 0.999908 0 + 5 60 184 0 0 11.726787 117 60 4270 167 ENST00000313077.7 0.040984 0.999999 NIPA1 123606 __UNKNOWN__ __UNKNOWN__ 15 23046404 23046404 __UNKNOWN__ 3'UTR SNP T T C rs12902722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:23046404T>C ENST00000337435.4 - 0 3439 NIPA1_ENST00000437912.2_3'UTR NM_001142275.1|NM_144599.4 NP_001135747.1|NP_653200.2 Q7RTP0 NIPA1_HUMAN non imprinted in Prader-Willi/Angelman syndrome 1 NA NA cell death (GO:0008219) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) magnesium ion transmembrane transporter activity (GO:0015095) endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) GAGAAGATCATCGGGTATCAC 0.353 NA T||| 825 0.164736 0.0068 0.1427 5008 , , NA 17907 0.4077 NA 0.1362 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BK001020 CCDS73691.1, CCDS73692.1 15q11.2 2006-10-06 ENSG00000170113 ENSG00000170113 123606 17043 protein-coding gene gene with protein product 608145 spastic paraplegia 6 (autosomal dominant) SPG6 NA 14508710 Standard NM_144599 NM_144599 NA Approved MGC35570 uc001yvc.3 Q7RTP0 OTTHUMG00000129099 ENST00000337435.4:c.*2425A>G chr15.hg19:g.23046404T>C NA B2RA76|Q5HYA9|Q7KZB0|Q86XW4 hg19 CCDS10011.1 0.02 7.095417 TCAxCGG COVERED NOVEL NIPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251135.2 1 5.415492 KEEP 0 0 0 18 557 TT 0.999859 0.999859 0 - 9 60 334 0 0 21.968692 181 60 6587 237 ENST00000337435.4 0.047368 1 HERC2P2 400322 __UNKNOWN__ __UNKNOWN__ 15 23300033 23300033 __UNKNOWN__ RNA SNP T T C rs1058831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:23300033T>C ENST00000560464.1 - 0 4254 hect domain and RLD 2 pseudogene 2 NA NA NA CGGGAACGGGTGACTGCTTGC 0.592 NA C||| 1690 0.33746 0.4826 0.3069 5008 , , NA 22469 0.3135 NA 0.2286 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF041080 15q11.2 2014-03-18 ENSG00000140181 400322 4870 pseudogene pseudogene NA 9730612 Standard NR_002824 NA Approved D15F37S3 uc001yvq.2 OTTHUMG00000171926 ENST00000560464.1: chr15.hg19:g.23300033T>C NA hg19 0.02 6.784458 GGGxGAC COVERED NOVEL HERC2P2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000415936.1 0 2.977621 KEEP 13 2 69 34 1030 TT 0.999999 0.999999 0 - 11 45 342 0 0 22.087717 153 60 5288 252 ENST00000560464.1 0.067073 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 23388566 23388566 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:23388566G>A NA NA HERC2P2 (10338 upstream) : RP11-467N20.5 (16502 downstream) NA NA NA GTATTTTGAAGGACATAGGTT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.23388566G>A NA hg19 0.02 2.390779 GAAxGAC UNCOVERED NOVEL 0 0 3.310489 KEEP 33 0 0 11 366 GG 0 0 0 7 25 263 0 0 19.851465 61 25 2214 113 0.102941 0.995687 GOLGA8EP 390535 __UNKNOWN__ __UNKNOWN__ 15 23441194 23441194 __UNKNOWN__ RNA SNP A A G rs200264616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:23441194A>G ENST00000526079.1 + 0 1248 NR_027407.1|NR_033350.1 golgin A8 family, member E, pseudogene NA NA NA GCGTGACCTGACAGCAGGACT 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 77 82 80 NA NA 15 NA 23441194 1424 2675 4099 15q11.2 2014-03-21 2012-10-05 2012-10-05 ENSG00000175676 ENSG00000175676 390535 32377 pseudogene pseudogene golgi autoantigen, golgin subfamily a, 8E, golgin A8 family, member E GOLGA8E NA 12477932 Standard NR_033350.1 NR_033350 NA Approved uc001yvu.3 OTTHUMG00000167132 ENST00000526079.1: chr15.hg19:g.23441194A>G NA hg19 0.02 -0.411317 CTGxCAG COVERED NOVEL GOLGA8EP-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000393312.1 0 3.308922 KEEP 9 0 0 11 334 AA 0.993072 0.935217 0 + 4 23 147 0 0 10.673463 43 50 1503 81 ENST00000526079.1 0.085106 0.941741 NPAP1 23742 __UNKNOWN__ __UNKNOWN__ 15 24921771 24921771 __UNKNOWN__ Missense_Mutation SNP G G C rs1563102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:24921771G>C ENST00000329468.2 + 1 1231 c.757G>C c.(757-759)Gga>Cga p.G253R NM_018958.2 NP_061831.2 Q9NZP6 NPAP1_HUMAN nuclear pore associated protein 1 253 NA G -> R (in dbSNP:rs1563102). {ECO:0000269|PubMed:10783265}. cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) NA CCGGCATCTTGGAAAGCCTGA 0.637 NA G||| 1370 0.273562 0.0129 0.3516 5008 , , NA 15590 0.4673 NA 0.325 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 G ARG/GLY 276,4128 13,250,1939 33 36 35 757 -4.1 0 15 dbSNP_88 35 2643,5955 405,1833,2061 yes missense C15orf2 NM_018958.2 125 418,2083,4000 CC,CG,GG 30.7397,6.267,22.4504 possibly-damaging 253/1157 24921771 2919,10083 2202 4299 6501 SO:0001583 missense AF179681 CCDS10015.1 15q11-q13 2012-07-19 2012-06-14 2012-06-14 ENSG00000185823 ENSG00000185823 23742 1190 protein-coding gene gene with protein product 610922 chromosome 15 open reading frame 2 C15orf2 NA 10783265, 22694955 Standard NM_018958 NM_018958 NA Approved uc001ywo.3 Q9NZP6 OTTHUMG00000129179 ENST00000329468.2:c.757G>C chr15.hg19:g.24921771G>C ENSP00000333735:p.Gly253Arg NA hg19 CCDS10015.1 0.02 22.13732 CTTxGAA COVERED 638 0.29212454212454214 10 0.02032520325203252 125 0.3453038674033149 276 0.4825174825174825 227 0.2994722955145119 . 11.44 1.639244 0.29157 0.06267 0.307397 ENSG00000185823 ENST00000329468 T 0.10477 2.87 2.07 -4.13 0.03904 . . . . . T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 P 0.45594 0.862 P 0.51101 0.659 T 0.23655 -1.0182 8 0.10111 T 0.7 . 5.3948 0.16263 0.0:0.4581:0.2796:0.2623 rs1563102;rs3784245;rs1563102 253 Q9NZP6 CO002_HUMAN R 253 ENSP00000333735:G253R ENSP00000333735:G253R G + 1 0 C15orf2 22472864 0.000000 0.05858 0.000000 0.03702 0.027000 0.11550 -1.085000 0.03390 -1.084000 0.03092 0.436000 0.28706 GGA NOVEL NPAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251253.1 1 21.36965 KEEP 0 0 0 71 2533 GG 1 1 0 + 35 60 1236 0 0 84.35896 494 60 18600 723 ENST00000329468.2 0.066163 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25423956 25423956 __UNKNOWN__ RNA SNP C C T rs34859712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25423956C>T ENST00000441592.2 + 0 399 SNORD115-5_ENST00000363633.1_RNA small nucleolar RNA host gene 14 (non-protein coding) NA NA NA AATAGGATTACGCTGAGGCCC 0.517 NA C||| 983 0.196286 0.3464 0.0576 5008 , , NA 21540 0.2649 NA 0.0855 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 C 527,1225 80,367,429 405 406 405 -2.3 0 15 dbSNP_126 405 310,3666 22,266,1700 no intergenic 102,633,2129 TT,TC,CC 7.7968,30.0799,14.6124 25423956 837,4891 876 1988 2864 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000441592.2: chr15.hg19:g.25423956C>T NA hg19 0.02 11.014419 TTAxGCT COVERED NOVEL SNHG14-009 KNOWN basic antisense NA processed_transcript OTTHUMT00000126736.3 2 7.825363 KEEP 0 0 0 26 901 CC 0.999957 0.999957 0 + 13 60 474 0 0 30.612256 275 60 9806 360 ENST00000441592.2 0.045139 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25424024 25424024 __UNKNOWN__ RNA SNP A A G rs2714739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25424024A>G ENST00000441592.2 + 0 399 small nucleolar RNA host gene 14 (non-protein coding) NA NA NA TGGCAGGGCCACTGTATTTTG 0.562 NA G||| 1471 0.29373 0.6747 0.1095 5008 , , NA 19369 0.2659 NA 0.0964 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000441592.2: chr15.hg19:g.25424024A>G NA hg19 0.02 12.013579 GCCxCTG COVERED NOVEL SNHG14-009 KNOWN basic antisense NA processed_transcript OTTHUMT00000126736.3 0 8.424863 KEEP 0 0 0 28 857 AA 0.999997 0.999997 0 + 10 60 379 0 0 24.187843 255 60 9124 377 ENST00000441592.2 0.037736 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25429458 25429458 __UNKNOWN__ RNA SNP A A G rs2011153 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25429458A>G ENST00000424208.1 + 0 450 SNORD115-8_ENST00000363856.1_RNA NR_003305.1 small nucleolar RNA host gene 14 (non-protein coding) NA NA NA GGGTTGGGTCAATGATGAGAA 0.517 NA G||| 1484 0.296326 0.6793 0.111 5008 , , NA 20298 0.2698 NA 0.0964 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 G 1023,729 305,413,158 309 309 309 -2.6 0 15 dbSNP_92 309 343,3637 27,289,1674 no intergenic 332,702,1832 GG,GA,AA 8.6181,41.6096,23.8311 25429458 1366,4366 876 1990 2866 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000424208.1: chr15.hg19:g.25429458A>G NA hg19 0.02 5.274528 GTCxATG COVERED NOVEL SNHG14-002 KNOWN basic antisense NA processed_transcript OTTHUMT00000126729.2 1 4.212191 KEEP 0 0 0 14 417 AA 0.995343 0.995343 0 + 11 60 337 0 0 20.67343 182 60 6195 227 ENST00000424208.1 0.056995 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25438493 25438493 __UNKNOWN__ RNA SNP A A G rs7172888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25438493A>G ENST00000424208.1 + 0 1352 SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 small nucleolar RNA host gene 14 (non-protein coding) NA NA NA ACCTTATATTATCCTGAAGAG 0.517 NA G||| 1854 0.370208 0.8623 0.1398 5008 , , NA 21581 0.2996 NA 0.1243 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 G 1262,490 476,310,90 435 438 437 0.1 0 15 dbSNP_116 437 429,3553 28,373,1590 no intergenic 504,683,1680 GG,GA,AA 10.7735,27.968,29.4908 25438493 1691,4043 876 1991 2867 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000424208.1: chr15.hg19:g.25438493A>G NA hg19 0.02 8.229172 ATTxTCC COVERED NOVEL SNHG14-002 KNOWN basic antisense NA processed_transcript OTTHUMT00000126729.2 1 3.608966 KEEP 0 0 0 12 360 AA 0.993634 0.993634 0 + 8 60 282 0 0 16.769754 234 60 8424 288 ENST00000424208.1 0.033058 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25442701 25442701 __UNKNOWN__ RNA SNP T T G rs2739768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25442701T>G ENST00000424208.1 + 0 1636 SNHG14_ENST00000424333.1_RNA NR_003305.1 small nucleolar RNA host gene 14 (non-protein coding) NA NA NA GCATGCGTTGTGGGGTGGTGG 0.522 NA G||| 1674 0.334265 0.789 0.1182 5008 , , NA 20261 0.2827 NA 0.0924 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 G 1174,578 396,382,98 274 279 277 -1.1 0 15 dbSNP_100 277 332,3650 17,298,1676 no intergenic 413,680,1774 GG,GT,TT 8.3375,32.9909,26.2644 25442701 1506,4228 876 1991 2867 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000424208.1: chr15.hg19:g.25442701T>G NA hg19 0.02 6.247107 TTGxGGG COVERED NOVEL SNHG14-002 KNOWN basic antisense NA processed_transcript OTTHUMT00000126729.2 0 3.309354 KEEP 0 0 0 11 328 TT 0.993072 0.993072 0 + 8 60 288 0 0 18.552345 165 60 5654 209 ENST00000424208.1 0.046243 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25457102 25457102 __UNKNOWN__ RNA SNP C C A rs73362147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25457102C>A ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 small nucleolar RNA host gene 14 (non-protein coding) NA NA NA GGGCTGGAGCCCTGGAGGCCC 0.587 NA C||| 384 0.0766773 0.2519 0.0231 5008 , , NA 17426 0.0278 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000424208.1: chr15.hg19:g.25457102C>A NA hg19 0.02 5.746365 AGCxCTG COVERED NOVEL SNHG14-002 KNOWN basic antisense NA processed_transcript OTTHUMT00000126729.2 0 4.514897 KEEP 0 0 0 15 548 CC 0.99649 0.99649 0 + 9 60 319 0 0 20.344432 187 60 6815 250 ENST00000424208.1 0.045918 1 SNHG14 0 __UNKNOWN__ __UNKNOWN__ 15 25458900 25458900 __UNKNOWN__ RNA SNP G G A rs2714779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25458900G>A ENST00000424208.1 + 0 2694 SNHG14_ENST00000424333.1_RNA NR_003305.1 small nucleolar RNA host gene 14 (non-protein coding) NA NA NA ATTTTGGAAGGGGACAGTAGG 0.498 NA A||| 986 0.196885 0.6309 0.0879 5008 , , NA 19531 0.0298 NA 0.0417 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 15q11.2 2014-01-17 2011-08-22 2011-08-22 ENSG00000224078 ENSG00000224078 NA Long non-coding RNAs 37462 non-coding RNA RNA, long non-coding non-protein coding RNA 214 UBE3A antisense RNA 1 (non-protein coding) UBE3A-AS1 NA 23771028 Standard NA Approved NCRNA00214, UBE3A-AS OTTHUMG00000056661 ENST00000424208.1: chr15.hg19:g.25458900G>A NA hg19 0.02 4.253556 AAGxGGA COVERED NOVEL SNHG14-002 KNOWN basic antisense NA processed_transcript OTTHUMT00000126729.2 0 4.815837 KEEP 0 0 0 16 579 GG 0.997832 0.997831 0 + 7 60 248 0 0 16.36333 121 60 4482 186 ENST00000424208.1 0.054687 1 ATP10A 57194 __UNKNOWN__ __UNKNOWN__ 15 25958797 25958797 __UNKNOWN__ Intron SNP G G A rs2291351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:25958797G>A ENST00000356865.6 - 10 2456 NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A NA NA ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GAGCTGGGGTGCAGCTGGGCA 0.532 NA G||| 730 0.145767 0.0461 0.2392 5008 , , NA 17711 0.2024 NA 0.1322 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 G 313,4087 157.0+/-190.0 8,297,1895 29 29 29 0.4 0 15 dbSNP_100 29 1265,7333 234.0+/-267.1 93,1079,3127 no intron ATP10A NM_024490.3 101,1376,5022 AA,AG,GG 14.7127,7.1136,12.1403 25958797 1578,11420 2200 4299 6499 SO:0001627 intron_variant AB011138 CCDS32178.1 15q12 2010-04-20 2007-09-19 ENSG00000206190 ENSG00000206190 57194 ATPases / P-type 13542 protein-coding gene gene with protein product 605855 ATPase, Class V, type 10C, ATPase, Class V, type 10A ATP10C NA 11015572, 9628581 Standard NM_024490 NM_024490 NA Approved ATPVA, ATPVC, KIAA0566 uc010ayu.3 O60312 ENST00000356865.6:c.2344+23C>T chr15.hg19:g.25958797G>A NA Q4G0S9|Q969I4 hg19 CCDS32178.1 0.02 9.812628 GGTxCAG COVERED NOVEL ATP10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000414830.1 0 3.309626 KEEP 0 0 0 11 361 GG 0.993072 0.993072 0 - 12 60 383 0 0 22.711535 265 60 9308 308 ENST00000356865.6 0.043321 1 GABRA5 2558 __UNKNOWN__ __UNKNOWN__ 15 27188459 27188459 __UNKNOWN__ Silent SNP C C T rs140685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:27188459C>T ENST00000335625.5 + 10 1863 c.975C>T c.(973-975)gcC>gcT p.A325A GABRA5_ENST00000355395.5_Silent_p.A325A|GABRA5_ENST00000400081.3_Silent_p.A325A NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 325 NA associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198) GGTTCATAGCCGTGTGCTATG 0.572 NA c||| 2269 0.453075 0.5325 0.5144 5008 , , NA 17528 0.3452 NA 0.4742 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 T , 2218,2020 616,986,517 29 32 31 975,975 -10.5 0.5 15 dbSNP_78 31 4004,4530 951,2102,1214 no coding-synonymous,coding-synonymous GABRA5 NM_000810.3,NM_001165037.1 , 1567,3088,1731 TT,TC,CC 46.9182,47.664,48.7159 , 325/463,325/463 27188459 6222,6550 2119 4267 6386 SO:0001819 synonymous_variant CCDS45194.1 15q12 2012-06-22 ENSG00000186297 ENSG00000186297 2558 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4079 protein-coding gene gene with protein product GABA(A) receptor, alpha 5 137142 NA 1321750 Standard NM_000810 NA Approved uc021sgi.1 P31644 OTTHUMG00000171824 ENST00000335625.5:c.975C>T chr15.hg19:g.27188459C>T NA A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5 hg19 CCDS45194.1 0.02 4.268042 AGCxGTG COVERED NOVEL GABRA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415234.1 1 4.815427 KEEP 0 0 0 16 544 CC 0.997832 0.997832 0 + 8 60 289 0 0 19.188275 141 60 5017 212 ENST00000335625.5 0.053691 1 GABRG3 2567 __UNKNOWN__ __UNKNOWN__ 15 27776043 27776043 __UNKNOWN__ Intron SNP T T C rs3097489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:27776043T>C ENST00000333743.6 + 10 1376 RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 NA NA gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) TGCAATTGTTTGTTAATAAAG 0.448 NA T||| 3466 0.692093 0.854 0.755 5008 , , NA 22451 0.7034 NA 0.5696 False NA ,,, NA NA NA 2504 0.5429 NA NA NA NSCLC(114;800 1656 7410 37729 45293) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45195.1, CCDS59251.1 15q12 2012-06-22 ENSG00000182256 ENSG00000182256 2567 GABA receptors, Ligand-gated ion channels / GABA(A) receptors 4088 protein-coding gene gene with protein product GABA(G) receptor, gamma 3 600233 NA 7601451 Standard NM_033223 NA Approved uc001zbg.2 Q99928 OTTHUMG00000044462 ENST00000333743.6:c.1123-1703T>C chr15.hg19:g.27776043T>C NA G3V594|Q9HD46|Q9NYT2 hg19 CCDS45195.1 0.02 3.800921 GTTxGTT COVERED NOVEL GABRG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103584.2 1 4.51349 KEEP 0 0 0 15 466 TT 0.99649 0.99649 0 + 6 60 193 0 0 11.545213 128 60 4690 171 ENST00000333743.6 0.044776 1 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28419587 28419587 __UNKNOWN__ Silent SNP G G A rs142399136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:28419587G>A ENST00000261609.7 - 65 10119 c.10011C>T c.(10009-10011)ccC>ccT p.P3337P NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGAAGAGGACGGGCTCGTGGA 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 33 29 30 NA NA 15 NA 28419587 2203 4297 6500 SO:0001819 synonymous_variant AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.10011C>T chr15.hg19:g.28419587G>A NA hg19 CCDS10021.1 0.02 4.988904 GACxGGC COVERED NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 3 2.339534 KEEP 3 1 29 18 560 GG 0.99986 0.999828 0 - 13 60 496 0 0 39.025321 87 70 2788 133 ENST00000261609.7 0.13 0.999968 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28422486 28422486 __UNKNOWN__ Intron SNP T T C rs151147091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:28422486T>C ENST00000261609.7 - 60 9363 NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTATTCTAATTTTCTGCAAAA 0.308 NA T||| 162 0.0323482 0.0015 0.0821 5008 , , NA 18794 0.0972 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.9254+78A>G chr15.hg19:g.28422486T>C NA hg19 CCDS10021.1 0.02 4.25927 AATxTTC COVERED NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 0 4.211464 KEEP 0 0 0 14 403 TT 0.995343 0.995343 0 - 5 60 192 0 0 12.068306 145 60 5149 171 ENST00000261609.7 0.033333 1 HERC2 8924 __UNKNOWN__ __UNKNOWN__ 15 28501298 28501298 __UNKNOWN__ Missense_Mutation SNP A A C rs200772464 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:28501298A>C ENST00000261609.7 - 18 2791 c.2683T>G c.(2683-2685)Tcc>Gcc p.S895A NM_004667.5 NP_004658.3 HECT and RLD domain containing E3 ubiquitin protein ligase 2 NA NA NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGCAGCACGGACCAGCCACTC 0.706 NA NA NA NA NA NA NA NA NA NA NA 0 12 15 14 NA NA 15 NA 28501298 2176 4252 6428 SO:0001583 missense AF071172 CCDS10021.1 15q13 2012-02-23 2012-02-23 ENSG00000128731 ENSG00000128731 8924 4868 protein-coding gene gene with protein product 605837 hect domain and RLD 2 NA 9949213 Standard NM_004667 NM_004667 NA Approved jdf2, p528, D15F37S1 uc001zbj.4 O95714 OTTHUMG00000129251 ENST00000261609.7:c.2683T>G chr15.hg19:g.28501298A>C ENSP00000261609:p.Ser895Ala NA hg19 CCDS10021.1 0.02 0.766012 CGGxCCA COVERED . . . . . . . . . . A 20.8 4.046753 0.75846 . . ENSG00000128731 ENST00000261609 T 0.44083 0.93 5.3 5.3 0.74995 . 0.000000 0.85682 D 0.000000 T 0.55893 0.1949 M 0.71036 2.16 0.58432 D 0.999998 P 0.44690 0.841 P 0.51170 0.661 T 0.60786 -0.7194 10 0.66056 D 0.02 . 15.2929 0.73879 1.0:0.0:0.0:0.0 . 895 O95714 HERC2_HUMAN A 895 ENSP00000261609:S895A ENSP00000261609:S895A S - 1 0 HERC2 26174893 1.000000 0.71417 0.998000 0.56505 0.972000 0.66771 9.267000 0.95665 2.022000 0.59522 0.441000 0.28932 TCC NOVEL HERC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251358.2 0 5.154393 KEEP 0 2 24 26 621 AA 0.999997 0.998198 0 - 16 60 176 0 0 8.704767 58 60 1514 143 ENST00000261609.7 0.216216 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 28835284 28835284 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:28835284G>A NA NA GOLGA8G (57141 upstream) : HERC2P9 (64303 downstream) NA NA NA TAGGTCTTCAGCGTATGTGTT 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.28835284G>A NA hg19 0.02 1.871125 TCAxCGT COVERED NOVEL 0 0 5.72303 KEEP 67 3 94 52 1875 GG 0.999999 0.986152 0 4 24 144 0 0 10.118069 50 48 1894 203 0.074074 0.986153 HERC2P9 440248 __UNKNOWN__ __UNKNOWN__ 15 28929443 28929443 __UNKNOWN__ RNA SNP C C T rs692165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:28929443C>T ENST00000528584.1 + 0 1980 NR_036443.1 hect domain and RLD 2 pseudogene 9 NA NA NA TTTTGGGCTCCCTGGGTGGTC 0.532 NA c||| 834 0.166534 0.2413 0.1124 5008 , , NA 12247 0.3988 NA 0.005 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC047911 15q13.1 2011-05-24 ENSG00000206149 ENSG00000206149 440248 30495 pseudogene pseudogene NA Standard NR_036443 NR_036443 NA Approved FLJ59185 uc010azc.3 OTTHUMG00000167114 ENST00000528584.1: chr15.hg19:g.28929443C>T NA hg19 0.02 2.035274 CTCxCTG COVERED NOVEL HERC2P9-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000393268.1 1 6.019746 KEEP 2 0 0 20 715 CC 0.999863 0.991958 0 + 4 25 139 0 0 9.343017 59 60 2205 107 ENST00000528584.1 0.063492 0.992094 APBA2 321 __UNKNOWN__ __UNKNOWN__ 15 29394009 29394009 __UNKNOWN__ Intron SNP C C T rs73370275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:29394009C>T ENST00000558402.1 + 11 2123 APBA2_ENST00000561069.1_Intron|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000411764.1_Intron|APBA2_ENST00000558259.1_Intron Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 NA NA in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886) beta-amyloid binding (GO:0001540) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CTTGCCAGGGCACTCCCCTCC 0.582 NA C||| 900 0.179712 0.1702 0.1556 5008 , , NA 16978 0.3016 NA 0.1412 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 C , 706,3700 282.5+/-276.6 66,574,1563 39 30 33 , -2.2 0 15 dbSNP_130 33 1173,7425 231.9+/-265.7 90,993,3216 no intron,intron APBA2 NM_001130414.1,NM_005503.3 , 156,1567,4779 TT,TC,CC 13.6427,16.0236,14.4494 , , 29394009 1879,11125 2203 4299 6502 SO:0001627 intron_variant AB014719 CCDS10022.1, CCDS45197.1 15q11-q12 2008-07-18 2008-07-18 ENSG00000034053 ENSG00000034053 321 579 protein-coding gene gene with protein product 602712 X11-like, amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like) X11L, MINT2 NA 8955346 Standard NM_005503 NM_005503 NA Approved D15S1518E, LIN-10, MGC:14091, HsT16821 uc001zck.3 Q99767 OTTHUMG00000129255 ENST00000558402.1:c.1524+22C>T chr15.hg19:g.29394009C>T NA E9PGI4|O60571|Q5XKC0 hg19 CCDS10022.1 0.02 9.785994 GGGxACT COVERED 430 0.19688644688644688 78 0.15853658536585366 55 0.15193370165745856 182 0.3181818181818182 115 0.1517150395778364 C 3.809 -0.040149 0.07497 0.160236 0.136427 ENSG00000034053 ENST00000382938 . . . 3.61 -2.19 0.07015 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.32829 0.386 B 0.23018 0.043 T 0.42292 -0.9460 5 . . . . 0.1444 0.00087 0.2713:0.2352:0.2489:0.2446 . 208 Q6ZVB1 . Y 208 . . H + 1 0 APBA2 27181301 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 -0.935000 0.03950 -0.442000 0.07190 0.563000 0.77884 CAC NOVEL APBA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251362.3 2 9.623778 KEEP 0 0 0 32 1104 CC 0.999997 0.999997 0 + 15 60 508 0 0 32.571216 265 60 9836 374 ENST00000558402.1 0.053571 1 FAM189A1 23359 __UNKNOWN__ __UNKNOWN__ 15 29412566 29412566 __UNKNOWN__ 3'UTR SNP A A G rs3797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:29412566A>G ENST00000261275.4 - 0 4595 NM_015307.1 NP_056122.1 O60320 F1891_HUMAN family with sequence similarity 189, member A1 NA NA integral component of membrane (GO:0016021) central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1) 7 GTGGCTTGAAAACAATTTCCT 0.418 NA A||| 538 0.107428 0.0552 0.1772 5008 , , NA 19109 0.1994 NA 0.0437 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45198.1 15q12 2014-02-12 ENSG00000104059 23359 29075 protein-coding gene gene with protein product transmembrane protein 228 NA 9628581 Standard NM_015307 NM_015307 NA Approved KIAA0574, TMEM228 uc010azk.1 O60320 ENST00000261275.4:c.*2976T>C chr15.hg19:g.29412566A>G NA A0PK09 hg19 CCDS45198.1 0.02 7.104226 GAAxACA COVERED NOVEL FAM189A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417254.1 0 3.611182 KEEP 0 0 0 12 385 AA 0.993634 0.993634 0 - 8 60 296 0 0 19.05988 180 60 6440 247 ENST00000261275.4 0.042553 1 FAM189A1 23359 __UNKNOWN__ __UNKNOWN__ 15 29417057 29417057 __UNKNOWN__ Intron SNP A A G rs17749179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:29417057A>G ENST00000261275.4 - 10 1228 NM_015307.1 NP_056122.1 O60320 F1891_HUMAN family with sequence similarity 189, member A1 NA NA integral component of membrane (GO:0016021) central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1) 7 GACATTTTAGATGGCGAGCAA 0.537 NA A||| 760 0.151757 0.2549 0.1988 5008 , , NA 19033 0.1548 NA 0.0497 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45198.1 15q12 2014-02-12 ENSG00000104059 23359 29075 protein-coding gene gene with protein product transmembrane protein 228 NA 9628581 Standard NM_015307 NM_015307 NA Approved KIAA0574, TMEM228 uc010azk.1 O60320 ENST00000261275.4:c.1229-93T>C chr15.hg19:g.29417057A>G NA A0PK09 hg19 CCDS45198.1 0.02 6.745436 TAGxTGG COVERED NOVEL FAM189A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417254.1 1 5.415916 KEEP 0 0 0 18 555 AA 0.999859 0.999859 0 - 7 60 262 0 0 16.852816 164 60 5934 222 ENST00000261275.4 0.040936 1 FAM189A1 23359 __UNKNOWN__ __UNKNOWN__ 15 29571799 29571799 __UNKNOWN__ Intron SNP C C T rs12910006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:29571799C>T ENST00000261275.4 - 3 276 NM_015307.1 NP_056122.1 O60320 F1891_HUMAN family with sequence similarity 189, member A1 NA NA integral component of membrane (GO:0016021) central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1) 7 gatctcttgacctcgtgatcc 0.537 NA C||| 1728 0.345048 0.2156 0.4236 5008 , , NA 18902 0.1855 NA 0.6362 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45198.1 15q12 2014-02-12 ENSG00000104059 23359 29075 protein-coding gene gene with protein product transmembrane protein 228 NA 9628581 Standard NM_015307 NM_015307 NA Approved KIAA0574, TMEM228 uc010azk.1 O60320 ENST00000261275.4:c.277-27117G>A chr15.hg19:g.29571799C>T NA A0PK09 hg19 CCDS45198.1 0.02 -0.052637 TGAxCTC UNCOVERED NOVEL FAM189A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417254.1 4 2.708848 KEEP 0 0 0 9 321 CC 0.99254 0.036491 0 - 2 40 69 0 0 6.650015 2 60 70 20 ENST00000261275.4 0.5 0.036766 TJP1 7082 __UNKNOWN__ __UNKNOWN__ 15 30023198 30023198 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:30023198C>G ENST00000400011.2 - 16 2271 TJP1_ENST00000346128.6_Intron|TJP1_ENST00000356107.6_Intron|TJP1_ENST00000545208.2_Intron Q07157 ZO1_HUMAN tight junction protein 1 NA NA apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605) apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GAAGTGTGTGCATTTTTGATA 0.363 NA NA NA NA NA NA NA NA NA NA Melanoma(77;681 1843 6309 6570) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42007.1, CCDS45199.1, CCDS73702.1 15q13 2012-07-12 2012-07-12 ENSG00000104067 ENSG00000104067 7082 11827 protein-coding gene gene with protein product zona occludens 1, tight junction protein ZO-1 601009 NA 8825647 Standard NM_003257 XM_005254616 NA Approved ZO-1, MGC133289, DKFZp686M05161 uc001zcr.3 Q07157 OTTHUMG00000137397 ENST00000400011.2:c.2029+1438G>C chr15.hg19:g.30023198C>G NA B4E3K1|Q2NKP3|Q4ZGJ6 hg19 0.02 4.23845 GTGxATT COVERED NOVEL TJP1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000268241.2 1 12.340782 KEEP 6 0 0 41 1492 CC 1 1 0 - 8 39 293 0 0 19.855499 130 60 4972 248 ENST00000400011.2 0.057971 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 30859743 30859743 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:30859743T>C NA NA GOLGA8Q (5039 upstream) : ULK4P2 (5428 downstream) NA NA NA GCGAGGCGGTTGGCCACATGT 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.30859743T>C NA hg19 0.02 2.138445 GGTxGGC COVERED NOVEL 0 7 2.706064 KEEP 14 3 94 42 1217 TT 1 0.9982 0 14 33 510 0 0 42.09341 60 60 2036 175 0.189189 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 31105347 31105347 __UNKNOWN__ IGR SNP C C T rs199749661 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:31105347C>T NA NA AC004460.1 (11756 upstream) : FAN1 (90707 downstream) NA NA NA GCTTCTCCTGCAGGGCGTGTG 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.31105347C>T NA hg19 0.02 4.43683 CTGxAGG COVERED NOVEL 0 0 4.513734 KEEP 0 0 0 15 523 CC 0.99649 0.99648 0 21 47 747 0 0 61.711118 86 50 3177 130 0.196262 0.999989 KLF13 51621 __UNKNOWN__ __UNKNOWN__ 15 31668382 31668382 __UNKNOWN__ 3'UTR SNP G G A rs117820946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:31668382G>A ENST00000307145.3 + 0 5105 NM_015995.2 NP_057079.2 Q9Y2Y9 KLF13_HUMAN Kruppel-like factor 13 NA NA negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1) 2 all_lung(180;3.71e-11) all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171) ACAGGGTCCCGGCACTCCCTC 0.572 NA G||| 24 0.00479233 0.0 0.0 5008 , , NA 20314 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF132599 CCDS10025.1 15q13.3 2013-01-08 ENSG00000169926 ENSG00000169926 51621 Kruppel-like transcription factors, Zinc fingers, C2H2-type 13672 protein-coding gene gene with protein product 605328 NA 10415854, 10023774 Standard NM_015995 NM_015995 NA Approved RFLAT-1, BTEB3, NSLP1, FKLF-2 uc001zfo.3 Q9Y2Y9 OTTHUMG00000172224 ENST00000307145.3:c.*3880G>A chr15.hg19:g.31668382G>A NA Q9Y356 hg19 CCDS10025.1 0.02 8.876555 CCCxGCA COVERED NOVEL KLF13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251381.1 2 17.088296 KEEP 0 1 29 67 2262 GG 1 1 0 + 10 60 376 0 0 24.182129 238 60 8421 394 ENST00000307145.3 0.040323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 31745831 31745831 __UNKNOWN__ IGR SNP A A G rs9302179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:31745831A>G NA NA KLF13 (49718 upstream) : OTUD7A (29497 downstream) NA NA NA ATGTCCCCTCATTCTGGAACA 0.542 NA G||| 1611 0.321685 0.1664 0.3415 5008 , , NA 22287 0.6637 NA 0.2773 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.31745831A>G NA hg19 0.02 3.974085 CTCxTTC COVERED NOVEL 0 2 8.425614 KEEP 0 0 0 28 879 AA 0.999997 0.999997 0 10 60 336 0 0 22.840182 127 60 4698 208 0.072993 1 OTUD7A 161725 __UNKNOWN__ __UNKNOWN__ 15 31793930 31793930 __UNKNOWN__ Silent SNP A A G rs7164569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:31793930A>G ENST00000307050.4 - 8 1205 c.1113T>C c.(1111-1113)ctT>ctC p.L371L OTUD7A_ENST00000382902.1_Silent_p.L378L NM_130901.1 NP_570971.1 Q8TE49 OTU7A_HUMAN OTU deubiquitinase 7A 371 Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}. NA protein K11-linked deubiquitination (GO:0035871) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CCATGGACACAAGGGCAGAGA 0.572 NA a||| 1657 0.330871 0.5061 0.3429 5008 , , NA 20439 0.2212 NA 0.339 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 A 2080,2324 571.9+/-383.2 480,1120,602 158 138 145 1113 -9.7 0.2 15 dbSNP_116 145 3028,5572 467.5+/-367.1 550,1928,1822 no coding-synonymous OTUD7A NM_130901.1 1030,3048,2424 GG,GA,AA 35.2093,47.2298,39.2802 371/927 31793930 5108,7896 2202 4300 6502 SO:0001819 synonymous_variant AJ430383 CCDS10026.1 15q13.1 2014-02-24 2014-02-24 2006-07-07 ENSG00000169918 ENSG00000169918 161725 OTU domain containing 20718 protein-coding gene gene with protein product 612024 chromosome 15 open reading frame 16, OTU domain containing 7, OTU domain containing 7A C15orf16, OTUD7 NA 23827681 Standard NM_130901 NM_130901 NA Approved CEZANNE2 uc001zfq.3 Q8TE49 OTTHUMG00000129275 ENST00000307050.4:c.1113T>C chr15.hg19:g.31793930A>G NA Q8IWK5 hg19 CCDS10026.1 0.02 6.818915 CACxAGG COVERED NOVEL OTUD7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251393.2 0 5.350598 KEEP 0 1 32 29 912 AA 0.999997 0.999997 0 - 9 60 314 0 0 20.306505 167 60 6159 262 ENST00000307050.4 0.051136 1 OTUD7A 161725 __UNKNOWN__ __UNKNOWN__ 15 31810472 31810472 __UNKNOWN__ Intron SNP C C A rs12440031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:31810472C>A ENST00000307050.4 - 6 965 OTUD7A_ENST00000382902.1_Intron NM_130901.1 NP_570971.1 Q8TE49 OTU7A_HUMAN OTU deubiquitinase 7A NA NA protein K11-linked deubiquitination (GO:0035871) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) gtcaggagatcgagaccatcc 0.507 NA C||| 1002 0.20008 0.0424 0.3055 5008 , , NA 20150 0.3671 NA 0.1968 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ430383 CCDS10026.1 15q13.1 2014-02-24 2014-02-24 2006-07-07 ENSG00000169918 ENSG00000169918 161725 OTU domain containing 20718 protein-coding gene gene with protein product 612024 chromosome 15 open reading frame 16, OTU domain containing 7, OTU domain containing 7A C15orf16, OTUD7 NA 23827681 Standard NM_130901 NM_130901 NA Approved CEZANNE2 uc001zfq.3 Q8TE49 OTTHUMG00000129275 ENST00000307050.4:c.872+8079G>T chr15.hg19:g.31810472C>A NA Q8IWK5 hg19 CCDS10026.1 0.02 -0.035093 GATxGAG UNCOVERED NOVEL OTUD7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251393.2 9 5.417355 KEEP 3 0 0 18 609 CC 0.99649 0.019911 0 - 4 60 145 0 0 16.408033 0 0 0 30 ENST00000307050.4 1 0.019982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 32635238 32635238 __UNKNOWN__ IGR SNP T T C rs28597938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:32635238T>C NA NA RNU6-18P (58779 upstream) : RP11-717I24.1 (16500 downstream) NA NA NA CTACCCCGCCTCCGTCCCCGT 0.697 NA C||| 2509 0.500998 0.8396 0.487 5008 , , NA 6933 0.2788 NA 0.4901 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.32635238T>C NA hg19 0.02 -0.14036 GCCxCCG COVERED NOVEL 0 0 2.406558 KEEP 0 0 0 8 234 TT 0.99257 0.259026 0 3 27 107 0 0 8.778463 13 60 454 29 0.1875 0.260965 GOLGA8O 728047 __UNKNOWN__ __UNKNOWN__ 15 32738717 32738717 __UNKNOWN__ Silent SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:32738717G>C ENST00000509311.2 - 15 1423 c.1326C>G c.(1324-1326)ccC>ccG p.P442P NM_001277308.1 NP_001264237.1 A6NCC3 GOG8O_HUMAN golgin A8 family, member O 442 NA Golgi apparatus (GO:0005794) NA CACTCGGCATGGGCCGAGGTG 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant CCDS59252.1 15q13.3 2012-10-05 ENSG00000206127 ENSG00000206127 728047 44406 protein-coding gene gene with protein product NA Standard NM_001277308 NA Approved uc031qrg.1 A6NCC3 OTTHUMG00000162878 ENST00000509311.2:c.1326C>G chr15.hg19:g.32738717G>C NA A6NHZ1|E7ENU5 hg19 CCDS59252.1 0.02 -0.377223 CATxGGC UNCOVERED NOVEL GOLGA8O-001 NOVEL not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000370931.3 1 2.40791 KEEP 15 0 0 8 290 GG 0 0 0 - 4 20 142 0 0 10.331087 39 60 1420 74 ENST00000509311.2 0.093023 0.909069 GREM1 26585 __UNKNOWN__ __UNKNOWN__ 15 33010736 33010736 __UNKNOWN__ Intron SNP G G A rs2293581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33010736G>A ENST00000300177.4 + 1 188 GREM1_ENST00000560677.1_Intron|GREM1_ENST00000560830.1_Intron|RP11-758N13.1_ENST00000558441.1_lincRNA NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist NA NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165) extracellular space (GO:0005615) BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GAGCGCAGGAGCATCCGGACC 0.726 NA G||| 1755 0.350439 0.2625 0.1715 5008 , , NA 13369 0.7202 NA 0.2227 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10029.1, CCDS53927.1 15q13.3 2014-02-07 2013-02-26 2004-05-07 ENSG00000166923 ENSG00000166923 26585 2001 protein-coding gene gene with protein product 603054 cysteine knot superfamily 1, BMP antagonist 1, gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 1, colorectal adenoma and carcinoma 1 CKTSF1B1, CRAC1 NA 9660951, 10026205, 22561515 Standard NM_013372 NM_013372 NA Approved DRM, gremlin, DAND2, HMPS uc001zhe.2 O60565 OTTHUMG00000129319 ENST00000300177.4:c.-2+374G>A chr15.hg19:g.33010736G>A NA Q52LV3|Q8N914|Q8N936 hg19 CCDS10029.1 0.02 5.882434 GGAxCAT COVERED NOVEL GREM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251455.2 1 7.825256 KEEP 0 0 0 26 934 GG 0.999957 0.999957 0 + 11 60 389 0 0 26.484514 158 60 5963 228 ENST00000300177.4 0.065089 1 GREM1 26585 __UNKNOWN__ __UNKNOWN__ 15 33023098 33023098 __UNKNOWN__ Silent SNP C C G rs2280738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33023098C>G ENST00000300177.4 + 2 396 c.207C>G c.(205-207)ccC>ccG p.P69P GREM1_ENST00000322805.4_Intron|GREM1_ENST00000560677.1_Intron|GREM1_ENST00000560830.1_Intron NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist 69 NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165) extracellular space (GO:0005615) BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) CTGCCATGCCCGGGGAGGAGG 0.647 NA C||| 338 0.067492 0.0121 0.0115 5008 , , NA 14159 0.2113 NA 0.0189 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 C ,, 50,4352 0,50,2151 25 29 27 ,,207 -11.1 0 15 dbSNP_100 27 62,8538 0,62,4238 no intron,intron,coding-synonymous GREM1 NM_001191322.1,NM_001191323.1,NM_013372.6 ,, 0,112,6389 GG,GC,CC 0.7209,1.1358,0.8614 ,, ,,69/185 33023098 112,12890 2201 4300 6501 SO:0001819 synonymous_variant CCDS10029.1, CCDS53927.1 15q13.3 2014-02-07 2013-02-26 2004-05-07 ENSG00000166923 ENSG00000166923 26585 2001 protein-coding gene gene with protein product 603054 cysteine knot superfamily 1, BMP antagonist 1, gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 1, colorectal adenoma and carcinoma 1 CKTSF1B1, CRAC1 NA 9660951, 10026205, 22561515 Standard NM_013372 NM_013372 NA Approved DRM, gremlin, DAND2, HMPS uc001zhe.2 O60565 OTTHUMG00000129319 ENST00000300177.4:c.207C>G chr15.hg19:g.33023098C>G NA Q52LV3|Q8N914|Q8N936 hg19 CCDS10029.1 0.02 8.738383 GCCxGGG COVERED NOVEL GREM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251455.2 2 12.034115 KEEP 0 0 0 40 1342 CC 1 1 0 + 18 60 585 0 0 39.354187 223 60 7709 321 ENST00000300177.4 0.074689 1 GREM1 26585 __UNKNOWN__ __UNKNOWN__ 15 33023951 33023951 __UNKNOWN__ 3'UTR SNP T T C rs3743105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33023951T>C ENST00000300177.4 + 0 1249 GREM1_ENST00000322805.4_3'UTR|GREM1_ENST00000560830.1_3'UTR NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist NA NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165) extracellular space (GO:0005615) BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) CTTAAGTTGATAGTGACTATG 0.398 NA C||| 2592 0.517572 0.1755 0.4899 5008 , , NA 22254 0.7956 NA 0.6133 False NA ,,, NA NA NA 2504 0.6145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10029.1, CCDS53927.1 15q13.3 2014-02-07 2013-02-26 2004-05-07 ENSG00000166923 ENSG00000166923 26585 2001 protein-coding gene gene with protein product 603054 cysteine knot superfamily 1, BMP antagonist 1, gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 1, colorectal adenoma and carcinoma 1 CKTSF1B1, CRAC1 NA 9660951, 10026205, 22561515 Standard NM_013372 NM_013372 NA Approved DRM, gremlin, DAND2, HMPS uc001zhe.2 O60565 OTTHUMG00000129319 ENST00000300177.4:c.*505T>C chr15.hg19:g.33023951T>C NA Q52LV3|Q8N914|Q8N936 hg19 CCDS10029.1 0.02 8.973877 TGAxAGT COVERED NOVEL GREM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251455.2 0 7.221568 KEEP 0 0 0 24 753 TT 0.999909 0.999909 0 + 9 60 347 0 0 22.788228 205 60 7445 286 ENST00000300177.4 0.042056 1 GREM1 26585 __UNKNOWN__ __UNKNOWN__ 15 33024767 33024767 __UNKNOWN__ 3'UTR SNP A A G rs3812933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33024767A>G ENST00000300177.4 + 0 2065 GREM1_ENST00000322805.4_3'UTR|GREM1_ENST00000560830.1_3'UTR NM_001191322.1|NM_001191323.1|NM_013372.6 NP_001178251.1|NP_001178252.1|NP_037504.1 O60565 GREM1_HUMAN gremlin 1, DAN family BMP antagonist NA NA activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165) extracellular space (GO:0005615) BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1) 10 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) CCTGGTAGAGATGTAAGGGAT 0.443 NA A||| 253 0.0505192 0.0 0.0014 5008 , , NA 20594 0.2163 NA 0.005 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10029.1, CCDS53927.1 15q13.3 2014-02-07 2013-02-26 2004-05-07 ENSG00000166923 ENSG00000166923 26585 2001 protein-coding gene gene with protein product 603054 cysteine knot superfamily 1, BMP antagonist 1, gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis), gremlin 1, colorectal adenoma and carcinoma 1 CKTSF1B1, CRAC1 NA 9660951, 10026205, 22561515 Standard NM_013372 NM_013372 NA Approved DRM, gremlin, DAND2, HMPS uc001zhe.2 O60565 OTTHUMG00000129319 ENST00000300177.4:c.*1321A>G chr15.hg19:g.33024767A>G NA Q52LV3|Q8N914|Q8N936 hg19 CCDS10029.1 0.02 9.069253 GAGxTGT COVERED NOVEL GREM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251455.2 2 5.114438 KEEP 0 0 0 17 518 AA 0.999366 0.999366 0 + 11 60 410 0 0 27.159336 215 60 7948 285 ENST00000300177.4 0.048673 1 FMN1 342184 __UNKNOWN__ __UNKNOWN__ 15 33063140 33063140 __UNKNOWN__ 3'UTR SNP C C T rs75606001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33063140C>T ENST00000334528.9 - 0 6961 NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 NA NA actin nucleation (GO:0045010) actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CACCTATGACCTCTGGGCCCC 0.438 NA C||| 500 0.0998403 0.1112 0.0331 5008 , , NA 16709 0.1657 NA 0.0368 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AH002864 CCDS45209.1, CCDS61581.1, CCDS61582.1 15q13.3 2013-06-13 2005-01-20 2005-01-22 ENSG00000248905 ENSG00000248905 342184 3768 protein-coding gene gene with protein product limb deformity protein 136535 formin (limb deformity) LD, FMN NA 1673046 Standard NM_001103184 NM_001277313 NA Approved DKFZP686C2281, FLJ45135, MGC125288, MGC125289 uc031qrh.1 Q68DA7 OTTHUMG00000172201 ENST00000334528.9:c.*3371G>A chr15.hg19:g.33063140C>T NA Q3B7I6|Q3ZAR4|Q6ZSY1 hg19 CCDS45209.1 0.02 1.945432 GACxTCT COVERED NOVEL FMN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417305.2 0 8.126021 KEEP 0 0 0 27 955 CC 0.999988 0.999918 0 - 6 60 229 0 0 16.045695 89 60 3299 149 ENST00000334528.9 0.063158 0.99993 FMN1 342184 __UNKNOWN__ __UNKNOWN__ 15 33356311 33356311 __UNKNOWN__ Intron SNP T T C rs117208002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33356311T>C ENST00000559047.1 - 3 2161 FMN1_ENST00000334528.9_Intron|FMN1_ENST00000558197.1_3'UTR|FMN1_ENST00000561249.1_Intron Q68DA7 FMN1_HUMAN formin 1 NA NA actin nucleation (GO:0045010) actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCACCCAACTTTGATCTGTTC 0.338 NA T||| 45 0.00898562 0.0 0.0 5008 , , NA 20280 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AH002864 CCDS45209.1, CCDS61581.1, CCDS61582.1 15q13.3 2013-06-13 2005-01-20 2005-01-22 ENSG00000248905 ENSG00000248905 342184 3768 protein-coding gene gene with protein product limb deformity protein 136535 formin (limb deformity) LD, FMN NA 1673046 Standard NM_001103184 NM_001277313 NA Approved DKFZP686C2281, FLJ45135, MGC125288, MGC125289 uc031qrh.1 Q68DA7 OTTHUMG00000172201 ENST00000559047.1:c.2161+846A>G chr15.hg19:g.33356311T>C NA Q3B7I6|Q3ZAR4|Q6ZSY1 hg19 0.02 16.379949 ACTxTGA COVERED NOVEL FMN1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417414.1 1 9.627046 KEEP 0 0 0 32 1011 TT 0.999997 0.999997 0 - 11 60 430 0 0 26.626519 369 60 13248 477 ENST00000559047.1 0.028947 1 RYR3 6263 __UNKNOWN__ __UNKNOWN__ 15 33873656 33873656 __UNKNOWN__ Intron SNP A A G rs748299|rs386782817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:33873656A>G ENST00000389232.4 + 14 1507 RYR3_ENST00000415757.3_Intron NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGCATAAGGGACTGTGCTTTC 0.403 NA A||| 559 0.111621 0.2466 0.0519 5008 , , NA 21069 0.0417 NA 0.1074 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45210.1, CCDS58351.1 15q14-q15 2013-01-10 ENSG00000198838 6263 Ion channels / Ryanodine receptors, EF-hand domain containing 10485 protein-coding gene gene with protein product 180903 NA 8276408 Standard NM_001036 NA Approved uc001zhi.3 Q15413 ENST00000389232.4:c.1438-53A>G chr15.hg19:g.33873656A>G NA O15175|Q15412 hg19 CCDS45210.1 0.02 6.736784 GGGxCTG COVERED NOVEL RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417514.1 1 10.797822 KEEP 0 0 0 36 1124 AA 1 1 0 + 8 60 293 0 0 18.63045 187 60 6573 267 ENST00000389232.4 0.041026 1 RYR3 6263 __UNKNOWN__ __UNKNOWN__ 15 34049615 34049615 __UNKNOWN__ Intron SNP A A G rs2288604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:34049615A>G ENST00000389232.4 + 60 8653 RYR3_ENST00000415757.3_Intron NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017) calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACACTTTTAAATGAACCAAAT 0.428 NA A||| 1037 0.207069 0.1899 0.1167 5008 , , NA 20201 0.2143 NA 0.2346 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS45210.1, CCDS58351.1 15q14-q15 2013-01-10 ENSG00000198838 6263 Ion channels / Ryanodine receptors, EF-hand domain containing 10485 protein-coding gene gene with protein product 180903 NA 8276408 Standard NM_001036 NA Approved uc001zhi.3 Q15413 ENST00000389232.4:c.8584-61A>G chr15.hg19:g.34049615A>G NA O15175|Q15412 hg19 CCDS45210.1 0.02 2.232307 TAAxTGA COVERED NOVEL RYR3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417514.1 1 2.406991 KEEP 0 0 0 8 242 AA 0.99257 0.960237 0 + 5 60 191 0 0 14.341677 47 60 1644 65 ENST00000389232.4 0.096154 0.967425 SLC12A6 9990 __UNKNOWN__ __UNKNOWN__ 15 34628740 34628740 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:34628740G>A ENST00000354181.3 - 2 634 c.142C>T c.(142-144)Cgg>Tgg p.R48W SLC12A6_ENST00000397702.2_5'UTR|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R48W|SLC12A6_ENST00000458406.2_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R48W|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R39W|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R48W Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 48 NA angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827) central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) ACGCTTTCCCGGGAGCTAAAT 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 63 69 67 NA NA 15 NA 34628740 2170 4277 6447 SO:0001583 missense AF108831 CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1 15q13 2014-09-17 2013-07-18 ENSG00000140199 ENSG00000140199 9990 Solute carriers 10914 protein-coding gene gene with protein product 604878 agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome) KCC3, ACCPN NA 10187864, 10347194 Standard NM_005135 NM_133647 NA Approved uc001zhw.3 Q9UHW9 OTTHUMG00000129441 ENST00000354181.3:c.142C>T chr15.hg19:g.34628740G>A ENSP00000346112:p.Arg48Trp NA A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665 hg19 CCDS58352.1 0.02 23.567178 CCCxGGA COVERED . . . . . . . . . . G 17.43 3.387495 0.61956 . . ENSG00000140199 ENST00000397707;ENST00000354181 D 0.84660 -1.88 4.75 1.6 0.23607 . 0.164157 0.36200 N 0.002738 T 0.67420 0.2891 N 0.08118 0 0.80722 D 1 B;B 0.10296 0.003;0.002 B;B 0.01281 0.0;0.0 T 0.60219 -0.7306 10 0.66056 D 0.02 . 6.9771 0.24681 0.0871:0.0:0.4161:0.4968 . 48;48 Q9UHW9-3;Q9UHW9 .;S12A6_HUMAN W 48;39 ENSP00000380819:R48W ENSP00000346112:R39W R - 1 2 SLC12A6 32416032 1.000000 0.71417 0.995000 0.50966 0.993000 0.82548 1.175000 0.31944 0.572000 0.29383 0.563000 0.77884 CGG NOVEL SLC12A6-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000417991.1 2 47.919519 KEEP 0 5 144 210 7106 GG 1 1 0 - 20 60 719 1 0 43.540324 573 60 19671 1014 ENST00000354181.3 0.033727 1 NUTM1 256646 __UNKNOWN__ __UNKNOWN__ 15 34649211 34649211 __UNKNOWN__ Missense_Mutation SNP C C A rs2279683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:34649211C>A ENST00000537011.1 + 8 3384 c.3002C>A c.(3001-3003)aCt>aAt p.T1001N NUTM1_ENST00000333756.4_Missense_Mutation_p.T973N|NUTM1_ENST00000438749.3_Missense_Mutation_p.T991N NM_001284292.1 NP_001271221.1 Q86Y26 NUTM1_HUMAN NUT midline carcinoma, family member 1 973 NA cytoplasm (GO:0005737)|nucleus (GO:0005634) NA CTTGGAAGCACTTTGCCTAGA 0.478 NA C||| 447 0.0892572 0.0083 0.1484 5008 , , NA 21946 0.1716 NA 0.0646 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 C ASN/THR 108,4294 83.4+/-121.9 1,106,2094 47 44 45 2918 1.3 0 15 dbSNP_100 45 502,8094 143.1+/-199.2 10,482,3806 yes missense C15orf55 NM_175741.1 65 11,588,5900 AA,AC,CC 5.8399,2.4534,4.693 probably-damaging 973/1133 34649211 610,12388 2201 4298 6499 SO:0001583 missense AF482429 CCDS32190.1, CCDS61584.1, CCDS61585.1 15q14 2014-01-28 2013-03-14 2013-03-14 ENSG00000184507 ENSG00000184507 256646 29919 protein-coding gene gene with protein product nuclear protein in testis 608963 chromosome 15 open reading frame 55 C15orf55 NA 12543779 Standard NM_175741 NM_175741 NA Approved NUT, DKFZp434O192, FAM22H uc001zif.3 Q86Y26 OTTHUMG00000172348 ENST00000537011.1:c.3002C>A chr15.hg19:g.34649211C>A ENSP00000444896:p.Thr1001Asn NA B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3 hg19 0.02 8.61016 GCAxTTT COVERED 217 0.09935897435897435 10 0.02032520325203252 45 0.12430939226519337 110 0.19230769230769232 52 0.06860158311345646 C 15.01 2.707600 0.48412 0.024534 0.058399 ENSG00000184507 ENST00000537011;ENST00000438749;ENST00000333756 T;T;T 0.10668 2.85;2.85;2.85 5.3 1.27 0.21489 . 0.884104 0.09910 N 0.739870 T 0.00039 0.0001 M 0.76574 2.34 0.80722 P 0.0 D;D;P 0.65815 0.977;0.995;0.917 P;D;P 0.68192 0.905;0.956;0.548 T 0.08638 -1.0712 9 0.62326 D 0.03 . 7.5041 0.27534 0.0:0.6442:0.0:0.3558 rs2279683;rs52799410;rs59018055;rs2279683 991;1001;973 E7EVE8;F5H4I6;Q86Y26 .;.;NUT_HUMAN N 1001;991;973 ENSP00000444896:T1001N;ENSP00000407031:T991N;ENSP00000329448:T973N ENSP00000329448:T973N T + 2 0 C15orf55 32436503 0.000000 0.05858 0.001000 0.08648 0.015000 0.08874 0.403000 0.20982 0.385000 0.24970 0.655000 0.94253 ACT NOVEL NUTM1-001 PUTATIVE downstream_ATG|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418024.1 1 15.349727 KEEP 0 0 0 51 1809 CC 1 1 0 + 10 60 370 0 0 24.318439 200 60 7522 319 ENST00000537011.1 0.047619 1 GOLGA8A 23015 __UNKNOWN__ __UNKNOWN__ 15 34800595 34800595 __UNKNOWN__ Intron SNP T T C rs4924714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:34800595T>C ENST00000543376.1 - 8 1158 A7E2F4 GOG8A_HUMAN golgin A8 family, member A NA NA Golgi apparatus (GO:0005794)|membrane (GO:0016020) NA all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) caggaaaggtttgaaaaagaa 0.458 NA .||| 734 0.146565 0.0378 0.1513 5008 , , NA 15613 0.3254 NA 0.1193 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX648160 CCDS10038.1 15q14 2011-10-25 2010-02-12 ENSG00000175265 ENSG00000175265 23015 31972 protein-coding gene gene with protein product golgi autoantigen, golgin subfamily a, 8A NA 10660574, 10677249 Standard NM_181076 NM_181077 NA Approved GM88, GOLGIN-67 uc001zii.3 A7E2F4 OTTHUMG00000129447 ENST00000543376.1:c.1596+28949A>G chr15.hg19:g.34800595T>C NA A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3 hg19 0.02 2.303163 GGTxTGA COVERED NOVEL GOLGA8A-203 KNOWN basic|appris_candidate protein_coding NA protein_coding 1 5.854203 KEEP 0 1 39 33 1071 TT 0.999998 0.998991 0 - 6 60 232 0 0 16.878237 72 60 2527 137 ENST00000543376.1 0.076923 0.998993 GOLGA8B 440270 __UNKNOWN__ __UNKNOWN__ 15 34818337 34818337 __UNKNOWN__ 3'UTR SNP A A G rs1059887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:34818337A>G ENST00000342314.5 - 0 3405 GOLGA8B_ENST00000438958.2_3'UTR|GOLGA8B_ENST00000267731.7_3'UTR|GOLGA8A_ENST00000543376.1_Intron NM_001023567.4 NP_001018861.3 A8MQT2 GOG8B_HUMAN golgin A8 family, member B NA NA Golgi apparatus (GO:0005794)|membrane (GO:0016020) endometrium(1) 1 all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GTACAAAAACATATTTCACTC 0.363 NA .||| 717 0.143171 0.059 0.1599 5008 , , NA 17508 0.2718 NA 0.1153 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF164622 CCDS45211.1 15q14 2011-10-25 2010-02-12 ENSG00000215252 ENSG00000215252 440270 31973 protein-coding gene gene with protein product 609619 golgi autoantigen, golgin subfamily a, 8B NA Standard NM_001023567 NM_001023567 NA Approved uc001ziq.3 A8MQT2 OTTHUMG00000129549 ENST00000342314.5:c.*1496T>C chr15.hg19:g.34818337A>G NA A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3 hg19 CCDS45211.1 0.02 9.944182 AACxTAT COVERED NOVEL GOLGA8B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251739.2 2 17.152039 KEEP 2 0 0 57 1809 AA 1 1 0 - 11 60 381 0 0 22.971508 284 60 10625 430 ENST00000342314.5 0.037288 1 GOLGA8B 440270 __UNKNOWN__ __UNKNOWN__ 15 34818413 34818413 __UNKNOWN__ 3'UTR SNP T T C rs36106641|rs4041349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:34818413T>C ENST00000342314.5 - 0 3329 GOLGA8B_ENST00000438958.2_3'UTR|GOLGA8B_ENST00000267731.7_3'UTR|GOLGA8A_ENST00000543376.1_Intron NM_001023567.4 NP_001018861.3 A8MQT2 GOG8B_HUMAN golgin A8 family, member B NA NA Golgi apparatus (GO:0005794)|membrane (GO:0016020) endometrium(1) 1 all_lung(180;2.78e-08) all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TGATAATACATTGACATTCAC 0.328 NA .||| 722 0.144169 0.059 0.1585 5008 , , NA 17579 0.2718 NA 0.1163 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF164622 CCDS45211.1 15q14 2011-10-25 2010-02-12 ENSG00000215252 ENSG00000215252 440270 31973 protein-coding gene gene with protein product 609619 golgi autoantigen, golgin subfamily a, 8B NA Standard NM_001023567 NM_001023567 NA Approved uc001ziq.3 A8MQT2 OTTHUMG00000129549 ENST00000342314.5:c.*1420A>G chr15.hg19:g.34818413T>C NA A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3 hg19 CCDS45211.1 0.02 12.545649 ACAxTGA COVERED NOVEL GOLGA8B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251739.2 1 17.154266 KEEP 1 0 0 57 1896 TT 1 1 0 - 23 60 885 0 0 64.802007 261 60 9540 426 ENST00000342314.5 0.080986 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 35043218 35043218 __UNKNOWN__ IGR SNP T T C rs2339643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:35043218T>C NA NA CTD-2125J1.1 (95253 upstream) : GJD2 (14 downstream) NA NA NA CATCAAAAAGTGCAGACTCTT 0.303 NA T||| 1761 0.351637 0.1399 0.4222 5008 , , NA 17944 0.5933 NA 0.325 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.35043218T>C NA hg19 0.02 6.240851 AAGxGCA COVERED NOVEL 0 2 11.130233 KEEP 0 0 0 37 1122 TT 1 1 0 11 60 403 1 0 27.438757 174 60 6113 271 0.059459 1 GJD2 57369 __UNKNOWN__ __UNKNOWN__ 15 35043610 35043610 __UNKNOWN__ 3'UTR SNP G G A rs202007522|rs607028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:35043610G>A ENST00000290374.4 - 0 2511 NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa NA NA action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601) connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gap junction channel activity (GO:0005243) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GTGTTTCAAAGAGTAACTGAA 0.368 NA A||| 2469 0.493011 0.3419 0.5432 5008 , , NA 17806 0.6825 NA 0.5298 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037509 CCDS10040.1 15q13.1 2008-02-04 2007-11-06 2007-11-06 ENSG00000159248 ENSG00000159248 57369 Ion channels / Gap junction proteins (connexins) 19154 protein-coding gene gene with protein product connexin 36 607058 gap junction protein, alpha 9, 36kDa GJA9 NA 10462698 Standard NM_020660 NA Approved CX36 uc001zis.2 Q9UKL4 OTTHUMG00000129674 ENST00000290374.4:c.*1069C>T chr15.hg19:g.35043610G>A NA Q2M241|Q9P2R0 hg19 CCDS10040.1 0.02 10.095795 AAAxAGT COVERED NOVEL GJD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251875.2 2 4.047561 KEEP 0 1 30 24 840 GG 0.999931 0.999931 0 - 9 60 311 0 0 18.499154 246 60 9415 331 ENST00000290374.4 0.035294 1 GJD2 57369 __UNKNOWN__ __UNKNOWN__ 15 35046816 35046816 __UNKNOWN__ 5'UTR SNP T T A rs2277558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:35046816T>A ENST00000290374.4 - 0 350 NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa NA NA action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601) connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) gap junction channel activity (GO:0005243) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) AGCAATTTTTTAAAAAATCCT 0.527 NA T||| 1930 0.385383 0.2572 0.4395 5008 , , NA 14704 0.5952 NA 0.3221 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB037509 CCDS10040.1 15q13.1 2008-02-04 2007-11-06 2007-11-06 ENSG00000159248 ENSG00000159248 57369 Ion channels / Gap junction proteins (connexins) 19154 protein-coding gene gene with protein product connexin 36 607058 gap junction protein, alpha 9, 36kDa GJA9 NA 10462698 Standard NM_020660 NA Approved CX36 uc001zis.2 Q9UKL4 OTTHUMG00000129674 ENST00000290374.4:c.-127A>T chr15.hg19:g.35046816T>A NA Q2M241|Q9P2R0 hg19 CCDS10040.1 0.02 5.994139 TTTxAAA COVERED NOVEL GJD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251875.2 1 3.644913 KEEP 0 1 31 23 715 TT 0.999909 0.999909 0 - 11 60 395 0 0 26.801069 168 60 5979 234 ENST00000290374.4 0.061453 1 DPH6 89978 __UNKNOWN__ __UNKNOWN__ 15 35813709 35813709 __UNKNOWN__ Intron SNP T T C rs16961184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:35813709T>C ENST00000256538.4 - 3 339 DPH6_ENST00000440392.2_3'UTR NM_080650.3 NP_542381.1 Q7L8W6 DPH6_HUMAN diphthamine biosynthesis 6 NA NA peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183) ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178) NA AAAGTGCTGATAGGACTATGA 0.308 NA T||| 629 0.125599 0.2716 0.0533 5008 , , NA 18128 0.128 NA 0.0586 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10043.1, CCDS45213.1 15q14 2013-06-19 2013-06-19 2013-05-02 ENSG00000134146 ENSG00000134146 89978 6.3.1.14 30543 protein-coding gene gene with protein product diphthine--ammonia ligase ATP binding domain 4, DPH6 homolog (S. cerevisiae) ATPBD4 NA 23169644, 23468660 Standard NM_080650 NM_080650 NA Approved MGC14798 Q7L8W6 OTTHUMG00000129759 ENST00000256538.4:c.312+16765A>G chr15.hg19:g.35813709T>C NA B3KWG1|Q96HJ6 hg19 CCDS10043.1 0.02 9.344463 TGAxAGG COVERED NOVEL DPH6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251973.1 1 14.741125 KEEP 0 0 0 49 1492 TT 1 1 0 - 7 60 277 0 0 17.30268 233 60 8544 345 ENST00000256538.4 0.029167 1 RASGRP1 10125 __UNKNOWN__ __UNKNOWN__ 15 38792430 38792430 __UNKNOWN__ Intron SNP A A G rs56254815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:38792430A>G ENST00000310803.5 - 14 1861 RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Intron|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000450598.2_Intron|RASGRP1_ENST00000539159.1_Intron NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) NA NA activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CCTTCATTTTACTCTCTAGCT 0.413 NA A||| 517 0.103235 0.0038 0.1412 5008 , , NA 20489 0.1806 NA 0.0706 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF106071 CCDS45221.1, CCDS45222.1 15q15 2013-01-10 ENSG00000172575 10125 EF-hand domain containing 9878 protein-coding gene gene with protein product 603962 NA 10087292, 9789079 Standard NM_005739 NM_005739 NA Approved CalDAG-GEFII, RASGRP uc001zke.4 O95267 ENST00000310803.5:c.1684-90T>C chr15.hg19:g.38792430A>G NA Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9 hg19 CCDS45222.1 0.02 6.531767 TTTxCTC COVERED NOVEL RASGRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418223.1 0 4.210557 KEEP 0 0 0 14 394 AA 0.995343 0.995343 0 - 9 60 341 0 0 22.748885 177 60 5989 218 ENST00000310803.5 0.048387 1 C15orf54 400360 __UNKNOWN__ __UNKNOWN__ 15 39545148 39545148 __UNKNOWN__ 3'UTR SNP C C T rs13329154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:39545148C>T ENST00000318578.3 + 0 1180 RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 NA NA NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TAAATTTGAACATTTGATGAT 0.383 NA C||| 892 0.178115 0.0794 0.1902 5008 , , NA 19107 0.2103 NA 0.1551 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10049.1 15q14 2014-09-10 ENSG00000175746 ENSG00000175746 400360 33797 protein-coding gene gene with protein product NA Standard NM_207445 NM_207445 NA Approved FLJ39531 uc001zkg.2 Q8N8G6 OTTHUMG00000129843 ENST00000318578.3:c.*260C>T chr15.hg19:g.39545148C>T NA B7ZVZ9 hg19 CCDS10049.1 0.02 4.119999 GAAxATT COVERED NOVEL C15orf54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252083.1 0 4.514412 KEEP 0 0 0 15 526 CC 0.99649 0.996482 0 + 6 60 216 0 0 14.378193 103 60 3855 142 ENST00000318578.3 0.055046 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 40226294 40226294 __UNKNOWN__ IGR SNP A A G rs508281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40226294A>G NA NA RP11-325N19.3 (8213 upstream) : EIF2AK4 (52 downstream) NA NA NA CCAGCGTGGAACACCGCCCAT 0.781 NA G||| 3074 0.613818 0.7171 0.5548 5008 , , NA 9406 0.8502 NA 0.2992 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.40226294A>G NA hg19 0.02 -0.245575 GGAxCAC COVERED NOVEL 0 0 3.610838 KEEP 0 0 0 12 374 AA 0.993634 0.637264 0 3 60 107 0 0 7.992046 25 60 850 44 0.107143 0.641347 EIF2AK4 440275 __UNKNOWN__ __UNKNOWN__ 15 40300214 40300214 __UNKNOWN__ Intron SNP G G C rs2279580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40300214G>C ENST00000263791.5 + 25 3450 EIF2AK4_ENST00000559311.1_Intron|EIF2AK4_ENST00000382727.2_Intron NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 NA NA cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558) cytosolic ribosome (GO:0022626) ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) AGAAATCTGGGTTTCTCTCTC 0.353 NA G||| 1904 0.380192 0.3101 0.4683 5008 , , NA 20485 0.2976 NA 0.3807 False NA ,,, NA NA NA 2504 0.4969 NA NA NA NA 0 G 1131,2571 173,785,893 119 109 112 0.7 0 15 dbSNP_100 112 3043,5159 541,1961,1599 no intron EIF2AK4 NM_001013703.2 714,2746,2492 CC,CG,GG 37.1007,30.5511,35.0638 40300214 4174,7730 1851 4101 5952 SO:0001627 intron_variant AB037759 CCDS42016.1 15q13.3 2008-08-18 ENSG00000128829 440275 19687 protein-coding gene gene with protein product 609280 NA 10504407 Standard XM_005254392 NA Approved GCN2, KIAA1338 uc001zkm.1 Q9P2K8 ENST00000263791.5:c.3408-14G>C chr15.hg19:g.40300214G>C NA C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56 hg19 CCDS42016.1 0.02 14.092904 TGGxTTT COVERED NOVEL EIF2AK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418395.1 1 19.864303 KEEP 0 0 0 66 2349 GG 1 1 0 + 10 60 381 0 0 23.514472 313 60 11467 487 ENST00000263791.5 0.03096 1 EIF2AK4 440275 __UNKNOWN__ __UNKNOWN__ 15 40324481 40324481 __UNKNOWN__ Intron SNP T T C rs4432245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40324481T>C ENST00000263791.5 + 36 4771 EIF2AK4_ENST00000382727.2_Intron NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 NA NA cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558) cytosolic ribosome (GO:0022626) ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CTTCTGTCCATACTGTCAAAG 0.413 NA T||| 1313 0.262181 0.2784 0.3156 5008 , , NA 18880 0.4633 NA 0.0487 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 T 817,2879 100,617,1131 90 82 84 -1.2 0 15 dbSNP_111 84 229,7971 4,221,3875 no intron EIF2AK4 NM_001013703.2 104,838,5006 CC,CT,TT 2.7927,22.105,8.7929 40324481 1046,10850 1848 4100 5948 SO:0001627 intron_variant AB037759 CCDS42016.1 15q13.3 2008-08-18 ENSG00000128829 440275 19687 protein-coding gene gene with protein product 609280 NA 10504407 Standard XM_005254392 NA Approved GCN2, KIAA1338 uc001zkm.1 Q9P2K8 ENST00000263791.5:c.4728+43T>C chr15.hg19:g.40324481T>C NA C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56 hg19 CCDS42016.1 0.02 16.940959 CCAxACT COVERED NOVEL EIF2AK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418395.1 1 31.270122 KEEP 0 0 0 104 3160 TT 1 1 0 + 10 60 395 0 0 24.2781 363 60 13257 612 ENST00000263791.5 0.02681 1 PAK6 56924 __UNKNOWN__ __UNKNOWN__ 15 40543104 40543104 __UNKNOWN__ Intron SNP G G A rs1048164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40543104G>A ENST00000455577.2 + 3 795 RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000319503.3_3'UTR|PAK6_ENST00000560346.1_Intron NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 NA NA apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CCACCTCCACGCAGCACATTC 0.488 NA G||| 774 0.154553 0.0454 0.1974 5008 , , NA 19828 0.0794 NA 0.3052 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF276893 CCDS10054.1, CCDS61590.1 15q14 2008-06-17 2008-06-17 ENSG00000137843 ENSG00000137843 56924 16061 protein-coding gene gene with protein product 608110 p21(CDKN1A)-activated kinase 6 NA 11278661 Standard NM_020168 NA Approved PAK5 uc001zlb.3 Q9NQU5 OTTHUMG00000129921 ENST00000455577.2:c.-117-2275G>A chr15.hg19:g.40543104G>A NA A8K2G2|B3KYB0|G5E9R2 hg19 0.02 17.627013 CACxCAG COVERED NOVEL PAK6-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418345.1 1 23.156629 KEEP 0 0 0 77 2631 GG 1 1 0 + 17 60 607 0 0 37.608813 425 60 15119 642 ENST00000455577.2 0.038462 1 PAK6 56924 __UNKNOWN__ __UNKNOWN__ 15 40543223 40543223 __UNKNOWN__ Intron SNP A A G rs1048163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40543223A>G ENST00000455577.2 + 3 795 RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000319503.3_3'UTR|PAK6_ENST00000560346.1_Intron NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 NA NA apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CCCCTCATCCAAGGCCTAGCA 0.557 NA G||| 842 0.168131 0.084 0.1974 5008 , , NA 19018 0.0873 NA 0.3111 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF276893 CCDS10054.1, CCDS61590.1 15q14 2008-06-17 2008-06-17 ENSG00000137843 ENSG00000137843 56924 16061 protein-coding gene gene with protein product 608110 p21(CDKN1A)-activated kinase 6 NA 11278661 Standard NM_020168 NA Approved PAK5 uc001zlb.3 Q9NQU5 OTTHUMG00000129921 ENST00000455577.2:c.-117-2156A>G chr15.hg19:g.40543223A>G NA A8K2G2|B3KYB0|G5E9R2 hg19 0.02 11.546462 TCCxAGG COVERED NOVEL PAK6-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418345.1 1 13.839001 KEEP 0 0 0 46 1374 AA 1 1 0 + 8 60 311 0 0 19.108226 275 60 9947 379 ENST00000455577.2 0.028269 1 PAK6 56924 __UNKNOWN__ __UNKNOWN__ 15 40544617 40544617 __UNKNOWN__ Intron SNP G G A rs55863440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40544617G>A ENST00000455577.2 + 3 795 RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000319503.3_Missense_Mutation_p.P119S|PAK6_ENST00000560346.1_Intron NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 NA NA apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) CAAGCAGGTGGAGAGAAAGAG 0.736 NA G||| 791 0.157947 0.0499 0.1988 5008 , , NA 11428 0.0873 NA 0.3052 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 G ,,,SER/PRO 417,3971 19,379,1796 17 21 20 ,,,355 -3 0 15 dbSNP_129 20 2822,5768 478,1866,1951 yes intron,intron,intron,missense PAK6,C15orf56 NM_001128628.1,NM_001128629.1,NM_020168.4,NM_001039905.1 ,,,74 497,2245,3747 AA,AG,GG 32.8522,9.5032,24.9576 ,,,benign ,,,119/162 40544617 3239,9739 2194 4295 6489 SO:0001627 intron_variant AF276893 CCDS10054.1, CCDS61590.1 15q14 2008-06-17 2008-06-17 ENSG00000137843 ENSG00000137843 56924 16061 protein-coding gene gene with protein product 608110 p21(CDKN1A)-activated kinase 6 NA 11278661 Standard NM_020168 NA Approved PAK5 uc001zlb.3 Q9NQU5 OTTHUMG00000129921 ENST00000455577.2:c.-117-762G>A chr15.hg19:g.40544617G>A NA A8K2G2|B3KYB0|G5E9R2 hg19 0.02 5.821244 GTGxAGA COVERED 384 0.17582417582417584 30 0.06097560975609756 85 0.23480662983425415 40 0.06993006993006994 229 0.3021108179419525 G 12.42 1.932278 0.34096 0.095032 0.328522 ENSG00000176753 ENST00000319503 T 0.32272 1.46 4.2 -3.04 0.05412 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.22414 0.069 B 0.21360 0.034 T 0.43669 -0.9377 8 0.87932 D 0 . 3.0052 0.06026 0.18:0.4429:0.2494:0.1276 rs55863440 119 Q8N910 CO056_HUMAN S 119 ENSP00000315794:P119S ENSP00000315794:P119S P - 1 0 C15orf56 38331909 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.857000 0.04286 -0.735000 0.04837 -1.134000 0.01955 CCA NOVEL PAK6-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418345.1 1 21.961587 KEEP 0 0 0 73 2452 GG 1 1 0 + 8 60 262 0 0 15.901275 168 60 6042 303 ENST00000455577.2 0.045455 1 PLCB2 5330 __UNKNOWN__ __UNKNOWN__ 15 40582171 40582171 __UNKNOWN__ Intron SNP T T A rs11268592 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40582171T>A ENST00000260402.3 - 30 3517 PLCB2_ENST00000456256.2_Intron|PLCB2_ENST00000557821.1_Intron NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 NA NA activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) agagagagagtgtgtgtgtgt 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 154 103 118 NA NA 15 NA 40582171 692 1591 2283 SO:0001627 intron_variant CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1 15q15.1 2012-01-23 ENSG00000137841 ENSG00000137841 5330 3.1.4.11 9055 protein-coding gene gene with protein product 604114 NA 1644792, 9925923 Standard XM_005254448 NA Approved FLJ38135 uc001zld.3 Q00722 OTTHUMG00000172412 ENST00000260402.3:c.3267+54A>T chr15.hg19:g.40582171T>A NA A8K6J2|B9EGH5 hg19 CCDS42020.1 0.02 3.687645 GAGxGTG COVERED NOVEL PLCB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000418430.1 12 8.751907 KEEP 3 3 67 53 1523 TT 1 1 0 - 6 70 189 0 0 11.527816 110 70 3629 242 ENST00000260402.3 0.051724 1 PLCB2 5330 __UNKNOWN__ __UNKNOWN__ 15 40583560 40583560 __UNKNOWN__ Silent SNP G G T rs62021888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40583560G>T ENST00000260402.3 - 26 3025 c.2776C>A c.(2776-2778)Cgg>Agg p.R926R PLCB2_ENST00000456256.2_Silent_p.R911R|PLCB2_ENST00000557821.1_Silent_p.R922R NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 926 NA activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) gccgcgccccgctgcagcagc 0.736 NA G||| 808 0.161342 0.0121 0.2075 5008 , , NA 8373 0.1518 NA 0.337 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 2 3 3 NA NA 15 NA 40583560 1222 3008 4230 SO:0001819 synonymous_variant CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1 15q15.1 2012-01-23 ENSG00000137841 ENSG00000137841 5330 3.1.4.11 9055 protein-coding gene gene with protein product 604114 NA 1644792, 9925923 Standard XM_005254448 NA Approved FLJ38135 uc001zld.3 Q00722 OTTHUMG00000172412 ENST00000260402.3:c.2776C>A chr15.hg19:g.40583560G>T NA A8K6J2|B9EGH5 hg19 CCDS42020.1 0.02 1.847025 CCCxCTG COVERED NOVEL PLCB2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000418430.1 0 5.250853 KEEP 0 1 33 29 977 GG 0.999997 0.999927 0 - 5 60 182 0 0 12.086008 90 60 3067 149 ENST00000260402.3 0.052632 0.99993 PLCB2 5330 __UNKNOWN__ __UNKNOWN__ 15 40595565 40595565 __UNKNOWN__ Intron SNP C C T rs2305645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40595565C>T ENST00000543785.2 - 3 400 PLCB2_ENST00000456256.2_Intron|PLCB2_ENST00000260402.3_Intron|PLCB2_ENST00000557821.1_Intron NM_001284299.1 NP_001271228.1 Q00722 PLCB2_HUMAN phospholipase C, beta 2 NA NA activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytosol (GO:0005829) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CTCCTGGGGGCAGGGTGCGGA 0.542 NA C||| 1244 0.248403 0.2943 0.2233 5008 , , NA 21018 0.1577 NA 0.341 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C 993,2879 125,743,1068 57 58 58 -0.9 0 15 dbSNP_100 58 2724,5526 427,1870,1828 no intron PLCB2 NM_004573.2 552,2613,2896 TT,TC,CC 33.0182,25.6457,30.6633 40595565 3717,8405 1936 4125 6061 SO:0001627 intron_variant CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1 15q15.1 2012-01-23 ENSG00000137841 ENSG00000137841 5330 3.1.4.11 9055 protein-coding gene gene with protein product 604114 NA 1644792, 9925923 Standard XM_005254448 NA Approved FLJ38135 uc001zld.3 Q00722 OTTHUMG00000172412 ENST00000543785.2:c.163-8G>A chr15.hg19:g.40595565C>T NA A8K6J2|B9EGH5 hg19 0.02 5.914629 GGGxAGG COVERED NOVEL PLCB2-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418439.1 0 7.357981 KEEP 0 1 27 34 1223 CC 0.999999 0.999999 0 - 7 60 232 0 0 14.22695 147 60 5657 231 ENST00000543785.2 0.045455 1 DISP2 85455 __UNKNOWN__ __UNKNOWN__ 15 40662669 40662669 __UNKNOWN__ 3'UTR SNP C C T rs3803360 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40662669C>T ENST00000267889.3 + 0 4443 NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) NA NA smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TGCCAGATGTCCCAGCCTTGA 0.572 NA C||| 816 0.162939 0.2746 0.0951 5008 , , NA 19349 0.1349 NA 0.1531 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051529 CCDS10056.1 15q14 2004-01-15 ENSG00000140323 ENSG00000140323 85455 19712 protein-coding gene gene with protein product 607503 NA 11214970, 10619433 Standard NM_033510 NM_033510 NA Approved DISPB, KIAA1742, HsT16908 uc001zlk.1 A7MBM2 OTTHUMG00000129983 ENST00000267889.3:c.*150C>T chr15.hg19:g.40662669C>T NA Q6AHW3|Q9C0C1 hg19 CCDS10056.1 0.02 6.329002 TGTxCCA COVERED NOVEL DISP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252249.1 3 8.676372 KEEP 0 0 0 29 925 CC 0.999997 0.999997 0 + 7 60 258 0 0 16.382054 168 60 6108 235 ENST00000267889.3 0.04 1 DISP2 85455 __UNKNOWN__ __UNKNOWN__ 15 40662748 40662748 __UNKNOWN__ 3'UTR SNP G G A rs3803359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40662748G>A ENST00000267889.3 + 0 4522 NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) NA NA smoothened signaling pathway (GO:0007224) integral component of membrane (GO:0016021) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) ACCTGCTTGCGACCTGCTGAG 0.562 NA G||| 819 0.163538 0.2746 0.0965 5008 , , NA 17855 0.1349 NA 0.1531 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051529 CCDS10056.1 15q14 2004-01-15 ENSG00000140323 ENSG00000140323 85455 19712 protein-coding gene gene with protein product 607503 NA 11214970, 10619433 Standard NM_033510 NM_033510 NA Approved DISPB, KIAA1742, HsT16908 uc001zlk.1 A7MBM2 OTTHUMG00000129983 ENST00000267889.3:c.*229G>A chr15.hg19:g.40662748G>A NA Q6AHW3|Q9C0C1 hg19 CCDS10056.1 0.02 8.665663 TGCxACC COVERED NOVEL DISP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252249.1 3 8.726088 KEEP 0 0 0 29 930 GG 0.999997 0.999997 0 + 8 60 302 0 0 19.178885 207 60 7056 282 ENST00000267889.3 0.037209 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 40727718 40727718 __UNKNOWN__ IGR SNP T T A rs150768874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40727718T>A NA NA IVD (14206 upstream) : BAHD1 (4201 downstream) NA NA NA AGATGCAAGATCCTCCTGCCT 0.587 NA T||| 18 0.00359425 0.0 0.0014 5008 , , NA 19663 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.40727718T>A NA hg19 0.02 18.255762 AGAxCCT COVERED NOVEL 0 4 45.732952 KEEP 0 0 0 152 4707 TT 1 1 0 13 60 468 0 0 27.175295 459 60 16458 800 0.027542 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 40727720 40727720 __UNKNOWN__ IGR SNP C C A rs182842092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40727720C>A NA NA IVD (14208 upstream) : BAHD1 (4199 downstream) NA NA NA ATGCAAGATCCTCCTGCCTGA 0.587 NA C||| 17 0.00339457 0.0 0.0014 5008 , , NA 19376 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.40727720C>A NA hg19 0.02 20.024052 ATCxTCC COVERED NOVEL 0 4 45.440084 KEEP 0 0 0 151 5451 CC 1 1 0 13 60 493 0 0 29.632343 462 60 17241 799 0.027368 1 C15orf57 90416 __UNKNOWN__ __UNKNOWN__ 15 40845597 40845597 __UNKNOWN__ Intron SNP A A G rs6582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40845597A>G ENST00000559911.1 - 3 449 C15orf57_ENST00000358005.3_3'UTR|C15orf57_ENST00000560305.1_Intron|C15orf57_ENST00000561011.1_Intron|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000416810.2_3'UTR|C15orf57_ENST00000558113.1_Intron Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 NA NA endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 AAATGAGAGAAAGAAGCCCAG 0.428 NA A||| 2986 0.596246 0.4637 0.647 5008 , , NA 20446 0.7321 NA 0.6044 False NA ,,, NA NA NA 2504 0.591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC012189 CCDS10060.1, CCDS42022.1, CCDS73706.1 15q15.1 2008-05-30 2008-05-30 2008-05-30 ENSG00000128891 ENSG00000128891 90416 28295 protein-coding gene gene with protein product coiled-coil domain containing 32 CCDC32 NA 12477932 Standard NM_052849 NM_001080791 NA Approved MGC20481 uc001zma.1 Q9BV29 OTTHUMG00000129993 ENST00000559911.1:c.401+3817T>C chr15.hg19:g.40845597A>G NA A8KAL4|Q86TC4|Q8N788|Q8NAR7 hg19 0.02 2.259285 AGAxAGA COVERED NOVEL C15orf57-012 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000418788.1 1 8.124258 KEEP 0 0 0 27 873 AA 0.999988 0.999475 0 - 5 60 197 0 0 13.882076 78 60 2756 139 ENST00000559911.1 0.060241 0.999487 C15orf57 90416 __UNKNOWN__ __UNKNOWN__ 15 40849408 40849408 __UNKNOWN__ Intron SNP C C T rs8028999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40849408C>T ENST00000559911.1 - 3 449 C15orf57_ENST00000358005.3_Intron|C15orf57_ENST00000560305.1_Intron|C15orf57_ENST00000561011.1_Intron|RP11-111A22.1_ENST00000561460.1_RNA|C15orf57_ENST00000416810.2_Intron|C15orf57_ENST00000558871.1_3'UTR|C15orf57_ENST00000558750.1_Intron|C15orf57_ENST00000558113.1_Intron Q9BV29 CO057_HUMAN chromosome 15 open reading frame 57 NA NA endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 9 GACGGGGAATCGATTACCTCT 0.428 NA C||| 1799 0.359225 0.348 0.3646 5008 , , NA 18268 0.6389 NA 0.1302 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 C ,, 1393,3013 459.0+/-352.1 232,929,1042 101 90 94 ,, 1.9 0.4 15 dbSNP_116 94 1280,7320 255.1+/-280.1 100,1080,3120 no intron,intron,intron C15orf57 NM_001080791.1,NM_001080792.1,NM_052849.2 ,, 332,2009,4162 TT,TC,CC 14.8837,31.616,20.5521 ,, ,, 40849408 2673,10333 2203 4300 6503 SO:0001627 intron_variant BC012189 CCDS10060.1, CCDS42022.1, CCDS73706.1 15q15.1 2008-05-30 2008-05-30 2008-05-30 ENSG00000128891 ENSG00000128891 90416 28295 protein-coding gene gene with protein product coiled-coil domain containing 32 CCDC32 NA 12477932 Standard NM_052849 NM_001080791 NA Approved MGC20481 uc001zma.1 Q9BV29 OTTHUMG00000129993 ENST00000559911.1:c.401+6G>A chr15.hg19:g.40849408C>T NA A8KAL4|Q86TC4|Q8N788|Q8NAR7 hg19 0.02 28.400296 AATxGAT COVERED NOVEL C15orf57-012 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000418788.1 5 19.901098 KEEP 0 4 113 106 3588 CC 1 1 0 - 21 60 756 0 0 44.539147 690 60 25150 1001 ENST00000559911.1 0.029536 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 40874078 40874078 __UNKNOWN__ IGR SNP T T C rs8037334|rs71471881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:40874078T>C NA NA RPUSD2 (7419 upstream) : CASC5 (12139 downstream) NA NA NA ttttattcccttatttgtccc 0.493 NA T||| 3224 0.64377 0.6498 0.6671 5008 , , NA 18671 0.7331 NA 0.6024 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.40874078T>C NA hg19 0.02 -0.1316 CCCxTAT COVERED NOVEL 0 1 5.115517 KEEP 0 0 0 17 544 TT 0.999366 0.229028 0 3 60 114 0 0 9.571702 12 60 451 46 0.2 0.229173 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 41048058 41048058 __UNKNOWN__ IGR SNP G G A rs7175361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:41048058G>A NA NA RMDN3 (9 upstream) : GCHFR (8159 downstream) NA NA NA CAATTTTATTGTGAACATTTC 0.289 NA G||| 1487 0.296925 0.0809 0.3775 5008 , , NA 17949 0.6389 NA 0.1471 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.41048058G>A NA hg19 0.02 4.182362 ATTxTGA COVERED NOVEL 0 2 20.768003 KEEP 0 0 0 69 2468 GG 1 1 0 14 60 508 0 0 37.903959 122 60 4626 255 0.102941 1 LTK 4058 __UNKNOWN__ __UNKNOWN__ 15 41797721 41797721 __UNKNOWN__ Missense_Mutation SNP G G T rs148513655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:41797721G>T ENST00000561619.1 - 8 885 c.799C>A c.(799-801)Cgc>Agc p.R267S LTK_ENST00000453182.2_Missense_Mutation_p.R439S|LTK_ENST00000355166.5_Missense_Mutation_p.R508S|LTK_ENST00000263800.6_Missense_Mutation_p.R569S P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 569 NA cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TTCTGATGGCGAAACTTGCTG 0.572 NA TSP Lung(18;0.14) T||| 33 0.00658946 0.0008 0.0144 5008 , , NA 19606 0.0169 NA 0.004 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T SER/ARG,SER/ARG,SER/ARG 0,4406 0,0,2203 35 34 34 1315,1705,1522 4.5 1 15 dbSNP_134 34 11,8589 815.8+/-407.0 0,11,4289 yes missense,missense,missense LTK NM_001135685.1,NM_002344.5,NM_206961.3 110,110,110 0,11,6492 TT,TG,GG 0.1279,0.0,0.0846 benign,benign,benign 439/735,569/865,508/804 41797721 11,12995 2203 4300 6503 SO:0001583 missense D16105 CCDS10077.1, CCDS10078.1, CCDS45237.1 15q15.1-q21.1 2009-07-10 2008-01-23 ENSG00000062524 ENSG00000062524 4058 2.7.10.1 6721 protein-coding gene gene with protein product 151520 leukocyte tyrosine kinase NA 2320375 Standard NM_206961 NA Approved TYK1 uc001zoa.3 P29376 OTTHUMG00000130339 ENST00000561619.1:c.799C>A chr15.hg19:g.41797721G>T ENSP00000458111:p.Arg267Ser NA A6NNJ8|B4DL89|E9PFX4 hg19 0.02 3.900664 GGCxAAA COVERED 29 0.013278388278388278 1 0.0020325203252032522 10 0.027624309392265192 15 0.026223776223776224 3 0.00395778364116095 T 10.48 1.363412 0.24684 0.0 0.001279 ENSG00000062524 ENST00000355166;ENST00000263800;ENST00000453182 D;D;T 0.89415 -2.51;-2.51;0.01 4.53 4.53 0.55603 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); . . . . T 0.62732 0.2452 L 0.28192 0.835 0.24915 N 0.992012 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.04013 0.001;0.0;0.001;0.001 T 0.58211 -0.7676 9 0.21014 T 0.42 . 10.5973 0.45345 0.0:0.0:0.1622:0.8378 . 439;439;508;569 E9PFX4;B4DL89;P29376-4;P29376 .;.;.;LTK_HUMAN S 508;569;439 ENSP00000347293:R508S;ENSP00000263800:R569S;ENSP00000392196:R439S ENSP00000263800:R569S R - 1 0 LTK 39585013 1.000000 0.71417 0.998000 0.56505 0.832000 0.47134 2.325000 0.43840 0.775000 0.33450 -0.363000 0.07495 CGC NOVEL LTK-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000419600.1 0 5.11593 KEEP 0 0 0 17 562 GG 0.999366 0.999366 0 - 5 60 181 0 0 11.218894 129 60 4736 182 ENST00000561619.1 0.037313 1 MAPKBP1 23005 __UNKNOWN__ __UNKNOWN__ 15 42105918 42105918 __UNKNOWN__ Missense_Mutation SNP C C G rs1201689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42105918C>G ENST00000457542.2 + 9 1205 c.919C>G c.(919-921)Ctt>Gtt p.L307V MAPKBP1_ENST00000514566.1_Missense_Mutation_p.L307V|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.L195V|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.L313V|MAPKBP1_ENST00000221214.6_Intron NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 313 NA breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCTGCACTTCCTTAGCACCTT 0.582 NA c||| 1528 0.305112 0.3585 0.232 5008 , , NA 21640 0.2073 NA 0.3907 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 C VAL/LEU,VAL/LEU 1483,2923 476.1+/-357.5 265,953,985 196 179 185 937,919 4.7 1 15 dbSNP_87 185 3367,5233 500.6+/-375.3 675,2017,1608 yes missense,missense MAPKBP1 NM_001128608.1,NM_014994.2 32,32 940,2970,2593 GG,GC,CC 39.1512,33.6586,37.2905 benign,benign 313/1515,307/1509 42105918 4850,8156 2203 4300 6503 SO:0001583 missense AB011168 CCDS32201.1, CCDS45239.1, CCDS58359.1 15q15.1 2013-01-10 2008-01-30 ENSG00000137802 ENSG00000137802 23005 WD repeat domain containing 29536 protein-coding gene gene with protein product mitogen activated protein kinase binding protein 1 NA 9628581, 10471813 Standard NM_014994 NM_014994 NA Approved KIAA0596 uc001zok.4 O60336 OTTHUMG00000160227 ENST00000457542.2:c.919C>G chr15.hg19:g.42105918C>G ENSP00000397570:p.Leu307Val NA A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9 hg19 CCDS32201.1 0.02 21.627618 TTCxTTA COVERED 616 0.28205128205128205 170 0.34552845528455284 89 0.24585635359116023 82 0.14335664335664336 275 0.3627968337730871 c 11.80 1.745410 0.30955 0.336586 0.391512 ENSG00000137802 ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566 T;T;T;T 0.55413 5.03;0.52;5.02;5.02 5.64 4.72 0.59763 WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1); 0.319926 0.32401 N 0.006154 T 0.00012 0.0000 L 0.27053 0.805 0.27420 P 0.9543032 B;B;B;B 0.28350 0.208;0.007;0.0;0.019 B;B;B;B 0.22152 0.038;0.013;0.003;0.018 T 0.42649 -0.9439 9 0.22706 T 0.39 -12.0447 10.5005 0.44802 0.0:0.7534:0.1714:0.0752 rs1201689;rs1201689 195;307;313;307 F8WC21;O60336-2;O60336;O60336-6 .;.;MABP1_HUMAN;. V 307;195;313;307 ENSP00000397570:L307V;ENSP00000260357:L195V;ENSP00000393099:L313V;ENSP00000426154:L307V ENSP00000260357:L195V L + 1 0 MAPKBP1 39893210 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 1.438000 0.35002 1.374000 0.46228 0.651000 0.88453 CTT NOVEL MAPKBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359744.1 3 32.780626 KEEP 0 2 72 134 4904 CC 1 1 0 + 16 60 560 0 0 31.651585 582 60 22249 948 ENST00000457542.2 0.026756 1 SPTBN5 51332 __UNKNOWN__ __UNKNOWN__ 15 42172166 42172166 __UNKNOWN__ Intron SNP T T C rs1197686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42172166T>C ENST00000320955.6 - 15 3039 NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 NA NA actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091) actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507) NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACAGGGATGCTCATGCTGCCT 0.602 NA C||| 657 0.13119 0.2209 0.0879 5008 , , NA 19553 0.1974 NA 0.0517 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF233523 CCDS61599.1 15q21 2010-08-17 ENSG00000137877 ENSG00000137877 51332 15680 protein-coding gene gene with protein product beta V spectrin 605916 NA 10764729 Standard NM_016642 NM_016642 NA Approved HUSPECV, BSPECV, HUBSPECV uc001zos.4 Q9NRC6 ENST00000320955.6:c.2812-104A>G chr15.hg19:g.42172166T>C NA hg19 0.02 5.393245 TGCxCAT COVERED NOVEL SPTBN5-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000420237.1 1 6.618995 KEEP 0 0 0 22 700 TT 0.999879 0.999879 0 - 6 60 205 0 0 12.129959 162 60 5861 221 ENST00000320955.6 0.035714 1 RP11-23P13.6 0 __UNKNOWN__ __UNKNOWN__ 15 42187492 42187492 __UNKNOWN__ RNA SNP T T C rs1197701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42187492T>C ENST00000309874.2 + 0 2502 RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000568861.1_RNA NA NA NA TGCCAGACCTTGCCTCAGCCA 0.607 NA T||| 1580 0.315495 0.3722 0.2522 5008 , , NA 18418 0.3065 NA 0.2833 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000309874.2: chr15.hg19:g.42187492T>C NA hg19 0.02 15.438579 CCTxGCC COVERED 644 0.2948717948717949 171 0.3475609756097561 85 0.23480662983425415 173 0.30244755244755245 215 0.2836411609498681 T 5.214 0.224989 0.09916 . . ENSG00000174171 ENST00000309874 . . . 1.9 -0.633 0.11519 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.37033 -0.9723 4 0.87932 D 0 . 1.6539 0.02777 0.2922:0.1875:0.0:0.5203 rs1197701;rs1704379;rs57571346;rs1197701 . . . R 104 . ENSP00000311642:C104R C + 1 0 AC020659.1 39974784 0.000000 0.05858 0.000000 0.03702 0.062000 0.15995 -1.445000 0.02401 -0.178000 0.10672 0.459000 0.35465 TGC NOVEL RP11-23P13.6-001 KNOWN basic antisense NA antisense OTTHUMT00000420239.1 1 32.326107 KEEP 0 1 33 119 3606 TT 1 1 0 + 14 60 506 0 0 31.178102 371 60 13374 629 ENST00000309874.2 0.036364 1 PLA2G4F 255189 __UNKNOWN__ __UNKNOWN__ 15 42433802 42433802 __UNKNOWN__ 3'UTR SNP A A G rs2280248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42433802A>G ENST00000382396.4 - 0 3016 PLA2G4F_ENST00000397272.3_3'UTR Q68DD2 PA24F_HUMAN phospholipase A2, group IVF NA NA arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982) calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CTGGCTTCTCAGTGCCCTCAG 0.597 NA G||| 3494 0.697684 0.7216 0.6196 5008 , , NA 19590 0.8185 NA 0.504 False NA ,,, NA NA NA 2504 0.7955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32204.1 15q15.1 2008-09-19 ENSG00000168907 255189 3.1.1.4 27396 protein-coding gene gene with protein product NA 14702039, 15866882 Standard NM_213600 NM_213600 NA Approved PLA2G4F/Z uc001zoz.3 Q68DD2 ENST00000382396.4:c.*380T>C chr15.hg19:g.42433802A>G NA Q6ZMC8 hg19 CCDS32204.1 0.02 6.323112 CTCxGTG COVERED 1416 0.6483516483516484 356 0.7235772357723578 217 0.5994475138121547 464 0.8111888111888111 379 0.5 G 3.095 -0.186131 0.06340 . . ENSG00000168907 ENST00000443825 . . . 2.69 -5.38 0.02673 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.14896 -1.0456 4 0.28530 T 0.3 -5.067 4.8418 0.13494 0.5836:0.0:0.1616:0.2547 rs2280248;rs57298899;rs2280248 . . . P 857 . ENSP00000400843:L857P L - 2 0 PLA2G4F 40221094 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.231000 0.02939 -2.590000 0.00457 -1.299000 0.01334 CTG NOVEL PLA2G4F-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000420463.1 1 4.514153 KEEP 0 0 0 15 490 AA 0.99649 0.99649 0 - 7 60 237 0 0 14.704674 146 60 5344 188 ENST00000382396.4 0.045752 1 TMEM87A 25963 __UNKNOWN__ __UNKNOWN__ 15 42565588 42565588 __UNKNOWN__ Silent SNP C C A rs2277533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42565588C>A ENST00000389834.4 - 1 273 c.9G>T c.(7-9)gcG>gcT p.A3A TMEM87A_ENST00000307216.6_Silent_p.A3A|TMEM87A_ENST00000448392.1_5'UTR NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 3 NA integral component of membrane (GO:0016021) breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) GCCACGCAGCCGCCGCCATCT 0.597 NA C||| 800 0.159744 0.0091 0.1902 5008 , , NA 17168 0.3353 NA 0.1163 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 C , 161,4245 107.3+/-145.7 4,153,2046 53 51 52 9,9 1.5 1 15 dbSNP_100 52 1141,7457 228.7+/-263.7 68,1005,3226 no coding-synonymous,coding-synonymous TMEM87A NM_001110503.1,NM_015497.3 , 72,1158,5272 AA,AC,CC 13.2705,3.6541,10.0123 , 3/182,3/556 42565588 1302,11702 2203 4299 6502 SO:0001819 synonymous_variant AF132733 CCDS32205.1, CCDS45243.1, CCDS66742.1 15q15.1 2005-10-30 ENSG00000103978 25963 24522 protein-coding gene gene with protein product NA 12477932 Standard NM_015497 XM_005254287 NA Approved DKFZP564G2022 uc021sjr.1 Q8NBN3 ENST00000389834.4:c.9G>T chr15.hg19:g.42565588C>A NA Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7 hg19 CCDS32205.1 0.02 9.032968 AGCxGCC COVERED NOVEL TMEM87A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000420482.2 1 60.634207 KEEP 0 2 49 219 7392 CC 1 1 0 - 8 60 303 0 0 19.041144 222 60 7646 592 ENST00000389834.4 0.034783 1 STARD9 57519 __UNKNOWN__ __UNKNOWN__ 15 42984892 42984892 __UNKNOWN__ Silent SNP A A C rs117486394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42984892A>C ENST00000290607.7 + 23 11173 c.11116A>C c.(11116-11118)Agg>Cgg p.R3706R NM_020759.2 NP_065810.2 Q9P2P6 STAR9_HUMAN StAR-related lipid transfer (START) domain containing 9 3706 NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225) centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574) haematopoietic_and_lymphoid_tissue(1)|stomach(1) 2 TGTGGCCAGAAGGGAGCAGAA 0.567 NA A||| 74 0.0147764 0.0 0.0058 5008 , , NA 21475 0.0685 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A 1,1383 0,1,691 66 77 73 11116 4.8 0 15 dbSNP_132 73 0,3180 0,0,1590 no coding-synonymous STARD9 NM_020759.2 0,1,2281 CC,CA,AA 0.0,0.0723,0.0219 3706/4701 42984892 1,4563 692 1590 2282 SO:0001819 synonymous_variant AB037721 CCDS53935.1 15q15.2 2013-10-16 2007-08-16 ENSG00000159433 ENSG00000159433 57519 StAR-related lipid transfer (START) domain containing 19162 protein-coding gene gene with protein product 614642 START domain containing 9 NA 10718198 Standard NM_020759 NA Approved KIAA1300 uc010udj.2 Q9P2P6 OTTHUMG00000175799 ENST00000290607.7:c.11116A>C chr15.hg19:g.42984892A>C NA Q68DG2|Q6AI01|Q6ZWK0|Q9UF70 hg19 CCDS53935.1 0.02 10.247785 AGAxGGG COVERED NOVEL STARD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000431094.1 3 11.133023 KEEP 0 0 0 37 1167 AA 1 1 0 + 10 60 313 0 0 16.969758 297 60 10862 390 ENST00000290607.7 0.032573 1 STARD9 57519 __UNKNOWN__ __UNKNOWN__ 15 42986787 42986787 __UNKNOWN__ Missense_Mutation SNP C C T rs77836884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:42986787C>T ENST00000290607.7 + 24 12883 c.12826C>T c.(12826-12828)Cgg>Tgg p.R4276W NM_020759.2 NP_065810.2 Q9P2P6 STAR9_HUMAN StAR-related lipid transfer (START) domain containing 9 4276 NA ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225) centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574) haematopoietic_and_lymphoid_tissue(1)|stomach(1) 2 GAACTTCTGCCGGACGCGAAG 0.547 NA C||| 86 0.0171725 0.0 0.0058 5008 , , NA 19188 0.0804 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 50 49 49 NA NA 15 NA 42986787 692 1590 2282 SO:0001583 missense AB037721 CCDS53935.1 15q15.2 2013-10-16 2007-08-16 ENSG00000159433 ENSG00000159433 57519 StAR-related lipid transfer (START) domain containing 19162 protein-coding gene gene with protein product 614642 START domain containing 9 NA 10718198 Standard NM_020759 NA Approved KIAA1300 uc010udj.2 Q9P2P6 OTTHUMG00000175799 ENST00000290607.7:c.12826C>T chr15.hg19:g.42986787C>T ENSP00000290607:p.Arg4276Trp NA Q68DG2|Q6AI01|Q6ZWK0|Q9UF70 hg19 CCDS53935.1 0.02 16.632314 TGCxGGA COVERED 39 0.017857142857142856 1 0.0020325203252032522 1 0.0027624309392265192 37 0.06468531468531469 0 0.0 C 13.40 2.224952 0.39300 . . ENSG00000159433 ENST00000290607 D 0.87256 -2.23 5.81 -0.971 0.10303 . . . . . T 0.28863 0.0716 L 0.28458 0.855 0.09310 N 0.999998 B 0.32128 0.357 B 0.23716 0.048 T 0.48514 -0.9029 9 0.52906 T 0.07 . 5.779 0.18295 0.5337:0.2497:0.0:0.2166 . 4190 Q9P2P6 STAR9_HUMAN W 4276 ENSP00000290607:R4276W ENSP00000290607:R4276W R + 1 2 STARD9 40774079 0.160000 0.22878 0.000000 0.03702 0.048000 0.14542 0.677000 0.25262 -0.121000 0.11787 0.462000 0.41574 CGG NOVEL STARD9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000431094.1 2 25.555178 KEEP 0 0 0 85 2898 CC 1 1 0 + 15 60 577 0 0 37.533167 359 60 12906 594 ENST00000290607.7 0.040107 1 CDAN1 146059 __UNKNOWN__ __UNKNOWN__ 15 43021628 43021628 __UNKNOWN__ Intron SNP C C T rs16957104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43021628C>T ENST00000356231.3 - 18 2431 NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 NA NA chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104) cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) ATGGACTTTACTTGTGGAGTC 0.527 NA T||| 2271 0.453474 0.9539 0.1916 5008 , , NA 18564 0.2361 NA 0.2306 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF525398 CCDS32209.1 15q15.2 2012-04-25 2012-04-25 ENSG00000140326 146059 1713 protein-coding gene gene with protein product 607465 congenital dyserythropoietic anemia, type I NA 8634422, 12434312 Standard XM_085300 XM_005254177 NA Approved CDA-I, CDAI uc001zql.3 Q8IWY9 ENST00000356231.3:c.2408-68G>A chr15.hg19:g.43021628C>T NA Q6NYD0|Q7Z7L5|Q969N3 hg19 CCDS32209.1 0.02 6.136006 TTAxTTG COVERED NOVEL CDAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000431103.1 1 10.5339 KEEP 0 0 0 35 1235 CC 0.999999 0.999999 0 - 6 60 220 0 0 13.207031 191 60 7144 261 ENST00000356231.3 0.030457 1 CDAN1 146059 __UNKNOWN__ __UNKNOWN__ 15 43021908 43021908 __UNKNOWN__ Intron SNP C C T rs74652041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43021908C>T ENST00000356231.3 - 16 2376 NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 NA NA chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104) cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) ACAAGGGTTACATCTGCCCCT 0.612 NA C||| 99 0.0197684 0.0 0.0058 5008 , , NA 13828 0.0933 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF525398 CCDS32209.1 15q15.2 2012-04-25 2012-04-25 ENSG00000140326 146059 1713 protein-coding gene gene with protein product 607465 congenital dyserythropoietic anemia, type I NA 8634422, 12434312 Standard XM_085300 XM_005254177 NA Approved CDA-I, CDAI uc001zql.3 Q8IWY9 ENST00000356231.3:c.2352+85G>A chr15.hg19:g.43021908C>T NA Q6NYD0|Q7Z7L5|Q969N3 hg19 CCDS32209.1 0.02 1.859797 TTAxATC COVERED NOVEL CDAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000431103.1 2 3.009636 KEEP 0 0 0 10 349 CC 0.992708 0.992199 0 - 5 60 183 0 0 12.48254 78 60 2935 95 ENST00000356231.3 0.060241 0.999487 CDAN1 146059 __UNKNOWN__ __UNKNOWN__ 15 43022690 43022690 __UNKNOWN__ Intron SNP C C A rs7174041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43022690C>A ENST00000356231.3 - 14 2198 NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 NA NA chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104) cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TGGCCAGGGCCCCACACGCAC 0.547 NA A||| 2253 0.44988 0.9546 0.1729 5008 , , NA 19146 0.25 NA 0.1978 False NA ,,, NA NA NA 2504 0.4294 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF525398 CCDS32209.1 15q15.2 2012-04-25 2012-04-25 ENSG00000140326 146059 1713 protein-coding gene gene with protein product 607465 congenital dyserythropoietic anemia, type I NA 8634422, 12434312 Standard XM_085300 XM_005254177 NA Approved CDA-I, CDAI uc001zql.3 Q8IWY9 ENST00000356231.3:c.2174+105G>T chr15.hg19:g.43022690C>A NA Q6NYD0|Q7Z7L5|Q969N3 hg19 CCDS32209.1 0.02 4.256292 GGCxCCA COVERED NOVEL CDAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000431103.1 1 2.40777 KEEP 0 0 0 8 274 CC 0.99257 0.992555 0 - 6 60 217 0 0 14.582459 99 60 3445 118 ENST00000356231.3 0.057143 0.999984 TTBK2 146057 __UNKNOWN__ __UNKNOWN__ 15 43109385 43109385 __UNKNOWN__ Intron SNP C C T rs7182753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43109385C>T ENST00000567274.1 - 6 824 TTBK2_ENST00000267890.6_Intron|TTBK2_ENST00000567840.1_Intron Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 NA NA cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224) centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GGAAGAAACACGTCCTTTATT 0.313 NA T||| 2606 0.520367 0.9599 0.4352 5008 , , NA 12353 0.37 NA 0.2594 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020654 CCDS42029.1 15q15.2 2014-01-21 ENSG00000128881 ENSG00000128881 146057 19141 protein-coding gene gene with protein product 611695 spinocerebellar ataxia 11 SCA11 NA 10048485 Standard NM_173500 NM_173500 NA Approved KIAA0847 uc001zqo.2 Q6IQ55 OTTHUMG00000175802 ENST00000567274.1:c.433-90G>A chr15.hg19:g.43109385C>T NA O94932|Q6ZN52|Q8IVV1 hg19 0.02 3.96968 ACAxGTC COVERED NOVEL TTBK2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000431432.2 1 6.920924 KEEP 0 0 0 23 743 CC 0.999892 0.999892 0 - 8 60 299 0 0 20.183434 141 60 4673 193 ENST00000567274.1 0.053691 1 TTBK2 146057 __UNKNOWN__ __UNKNOWN__ 15 43133640 43133640 __UNKNOWN__ Intron SNP C C G rs58754188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43133640C>G ENST00000567274.1 - 4 609 TTBK2_ENST00000267890.6_Intron|TTBK2_ENST00000567840.1_Intron Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 NA NA cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224) centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) aactccggggctcaagcgatc 0.502 NA C||| 355 0.0708866 0.146 0.0216 5008 , , NA 15694 0.1329 NA 0.005 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020654 CCDS42029.1 15q15.2 2014-01-21 ENSG00000128881 ENSG00000128881 146057 19141 protein-coding gene gene with protein product 611695 spinocerebellar ataxia 11 SCA11 NA 10048485 Standard NM_173500 NM_173500 NA Approved KIAA0847 uc001zqo.2 Q6IQ55 OTTHUMG00000175802 ENST00000567274.1:c.218-1009G>C chr15.hg19:g.43133640C>G NA O94932|Q6ZN52|Q8IVV1 hg19 0.02 -0.070187 GGGxTCA UNCOVERED NOVEL TTBK2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000431432.2 0 2.408041 KEEP 0 0 0 8 302 CC 0.99257 0.053735 0 - 2 60 78 0 0 6.800552 6 60 224 23 ENST00000567274.1 0.25 0.054137 TTBK2 146057 __UNKNOWN__ __UNKNOWN__ 15 43170793 43170793 __UNKNOWN__ Missense_Mutation SNP A A G rs6493068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43170793A>G ENST00000567274.1 - 2 414 c.23T>C c.(22-24)cTg>cCg p.L8P TTBK2_ENST00000567485.1_5'UTR|TTBK2_ENST00000267890.6_Missense_Mutation_p.L8P|TTBK2_ENST00000567840.1_Missense_Mutation_p.L8P Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 8 NA L -> P (in dbSNP:rs6493068). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:19533200}. cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224) centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CAGGATATCCAGCTGCTCTCC 0.458 NA G||| 2578 0.514776 0.9592 0.2867 5008 , , NA 15499 0.4157 NA 0.2803 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 0 G PRO/LEU 3271,759 1343,585,87 159 179 173 23 5.3 0.9 15 dbSNP_116 173 2534,5802 356,1822,1990 yes missense TTBK2 NM_173500.3 98 1699,2407,2077 GG,GA,AA 30.3983,18.8337,46.9432 benign 8/1245 43170793 5805,6561 2015 4168 6183 SO:0001583 missense AB020654 CCDS42029.1 15q15.2 2014-01-21 ENSG00000128881 ENSG00000128881 146057 19141 protein-coding gene gene with protein product 611695 spinocerebellar ataxia 11 SCA11 NA 10048485 Standard NM_173500 NM_173500 NA Approved KIAA0847 uc001zqo.2 Q6IQ55 OTTHUMG00000175802 ENST00000567274.1:c.23T>C chr15.hg19:g.43170793A>G ENSP00000457489:p.Leu8Pro NA O94932|Q6ZN52|Q8IVV1 hg19 0.02 9.939767 TCCxGCT COVERED 1047 0.4793956043956044 465 0.9451219512195121 118 0.3259668508287293 242 0.4230769230769231 222 0.2928759894459103 G 14.23 2.474363 0.43942 0.811663 0.303983 ENSG00000128881 ENST00000267890 T 0.37235 1.21 5.29 5.29 0.74685 . . . . . T 0.00012 0.0000 N 0.05124 -0.11 0.22330 P 0.999196997 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.27157 -1.0082 8 0.25106 T 0.35 . 14.2099 0.65756 0.0722:0.0:0.9278:0.0 rs6493068;rs52823398;rs6493068 8;8 Q6IQ55-3;Q6IQ55 .;TTBK2_HUMAN P 8 ENSP00000267890:L8P ENSP00000267890:L8P L - 2 0 TTBK2 40958085 1.000000 0.71417 0.892000 0.35008 0.883000 0.51084 5.237000 0.65360 1.242000 0.43836 -0.124000 0.14976 CTG NOVEL TTBK2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000431432.2 5 24.372991 KEEP 0 0 0 81 2549 AA 1 1 0 - 11 60 373 0 0 22.530522 263 60 9751 456 ENST00000567274.1 0.040146 1 TGM5 9333 __UNKNOWN__ __UNKNOWN__ 15 43552360 43552360 __UNKNOWN__ Missense_Mutation SNP G G A rs113463533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43552360G>A ENST00000220420.5 - 3 333 c.326C>T c.(325-327)aCg>aTg p.T109M TGM5_ENST00000349114.4_Intron NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 109 NA T -> M (in dbSNP:rs113463533). {ECO:0000269|PubMed:16380904}. cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CACGGCCGCCGTGGGAGGAGC 0.617 NA G||| 109 0.0217652 0.0 0.0058 5008 , , NA 16737 0.0952 NA 0.003 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 G ,MET/THR 3,4401 6.2+/-15.9 0,3,2199 54 63 60 ,326 -5 0 15 dbSNP_132 60 44,8554 29.0+/-79.6 1,42,4256 yes intron,missense TGM5 NM_004245.3,NM_201631.3 ,81 1,45,6455 AA,AG,GG 0.5117,0.0681,0.3615 ,benign ,109/721 43552360 47,12955 2202 4299 6501 SO:0001583 missense AF035960 CCDS32211.1, CCDS32212.1 15q15 2004-07-07 ENSG00000104055 9333 Transglutaminases 11781 protein-coding gene gene with protein product 603805 NA 9452468, 11390390 Standard NM_004245 NM_201631 NA Approved TGX uc001zrd.2 O43548 ENST00000220420.5:c.326C>T chr15.hg19:g.43552360G>A ENSP00000220420:p.Thr109Met NA O43549|Q0VF40|Q9UEZ4 hg19 CCDS32212.1 0.02 4.193463 GCCxTGG COVERED 51 0.023351648351648352 0 0.0 2 0.0055248618784530384 46 0.08041958041958042 3 0.00395778364116095 G 9.375 1.071384 0.20147 6.81E-4 0.005117 ENSG00000104055 ENST00000220420;ENST00000396996 D 0.88896 -2.44 5.33 -5.04 0.02964 Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1); 0.563442 0.19741 N 0.107108 T 0.13329 0.0323 N 0.10874 0.06 0.09310 N 1 B 0.15930 0.015 B 0.15484 0.013 T 0.45205 -0.9277 10 0.41790 T 0.15 -2.7943 8.2569 0.31763 0.4322:0.1122:0.4555:0.0 . 109 O43548 TGM5_HUMAN M 109;108 ENSP00000220420:T109M ENSP00000220420:T109M T - 2 0 TGM5 41339652 0.000000 0.05858 0.003000 0.11579 0.700000 0.40528 -1.819000 0.01716 -0.846000 0.04174 -0.136000 0.14681 ACG NOVEL TGM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000432257.1 1 6.019177 KEEP 0 0 0 20 689 GG 0.999863 0.999857 0 - 5 60 181 0 0 11.616237 107 60 3620 153 ENST00000220420.5 0.044643 0.999995 ADAL 161823 __UNKNOWN__ __UNKNOWN__ 15 43627855 43627855 __UNKNOWN__ Intron SNP A A G rs1549525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43627855A>G ENST00000562188.1 + 2 79 ADAL_ENST00000422466.2_Intron|ADAL_ENST00000428046.3_Intron|ADAL_ENST00000389651.4_Intron Q6DHV7 ADAL_HUMAN adenosine deaminase-like NA NA adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872) endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) CTATGAATCTATTGGATATTT 0.328 NA A||| 2005 0.400359 0.73 0.2291 5008 , , NA 19803 0.4683 NA 0.1262 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 A , 2655,1747 636.8+/-396.6 805,1045,351 50 50 50 , -2.2 0 15 dbSNP_88 50 1099,7499 227.5+/-262.8 78,943,3278 no intron,intron ADAL NM_001012969.2,NM_001159280.1 , 883,1988,3629 GG,GA,AA 12.782,39.6865,28.8769 , , 43627855 3754,9246 2201 4299 6500 SO:0001627 intron_variant CCDS32214.1, CCDS53936.1 15q15.3 2014-08-08 ENSG00000168803 ENSG00000168803 161823 31853 protein-coding gene gene with protein product NA Standard XM_091156 NM_001012969 NA Approved uc010udo.2 Q6DHV7 OTTHUMG00000176646 ENST00000562188.1:c.64-39A>G chr15.hg19:g.43627855A>G NA A6NHZ3|B4DQM8 hg19 0.02 8.75747 TCTxTTG COVERED NOVEL ADAL-002 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000432960.1 0 5.41528 KEEP 0 0 0 18 553 AA 0.999859 0.999859 0 + 10 60 375 0 0 24.045266 240 60 8610 289 ENST00000562188.1 0.04 1 MAP1A 4130 __UNKNOWN__ __UNKNOWN__ 15 43816917 43816917 __UNKNOWN__ Silent SNP G G A rs1060939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43816917G>A ENST00000382031.1 + 5 3991 c.3960G>A c.(3958-3960)ggG>ggA p.G1320G MAP1A_ENST00000300231.5_Silent_p.G1082G|MAP1A_ENST00000399453.1_Silent_p.G1082G P78559 MAP1A_HUMAN microtubule-associated protein 1A 1082 NA microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) structural molecule activity (GO:0005198) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TTGATGAGGGGCTTACAGGCT 0.542 NA A||| 2648 0.528754 0.972 0.3329 5008 , , NA 20623 0.4177 NA 0.2962 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 A 3210,676 1336,538,69 77 81 80 3246 -0.4 0 15 dbSNP_86 80 2441,5843 346,1749,2047 yes coding-synonymous MAP1A NM_002373.5 1682,2287,2116 AA,AG,GG 29.4664,17.3958,46.4339 1082/2804 43816917 5651,6519 1943 4142 6085 SO:0001819 synonymous_variant U38292 CCDS42031.1 15q15.3 2006-06-15 ENSG00000166963 ENSG00000166963 4130 6835 protein-coding gene gene with protein product 600178 MAP1L NA 7806212, 7629894 Standard NM_002373 XM_005254385 NA Approved uc001zrt.3 P78559 OTTHUMG00000059756 ENST00000382031.1:c.3960G>A chr15.hg19:g.43816917G>A NA O95643|Q12973|Q15882|Q9UJT4 hg19 0.02 5.429036 GGGxCTT COVERED NOVEL MAP1A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000132895.2 1 6.154014 KEEP 0 1 33 32 1127 GG 0.999998 0.999998 0 + 7 60 248 0 0 15.001219 191 60 6895 273 ENST00000382031.1 0.035354 1 MAP1A 4130 __UNKNOWN__ __UNKNOWN__ 15 43818052 43818052 __UNKNOWN__ Missense_Mutation SNP G G A rs2245715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43818052G>A ENST00000382031.1 + 5 5126 c.5095G>A c.(5095-5097)Gat>Aat p.D1699N MAP1A_ENST00000300231.5_Missense_Mutation_p.D1461N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D1461N P78559 MAP1A_HUMAN microtubule-associated protein 1A 1461 NA microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) structural molecule activity (GO:0005198) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGAACAAAAGGATACAGCCCT 0.448 NA G||| 1837 0.366813 0.6831 0.2147 5008 , , NA 20781 0.4167 NA 0.1044 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 G ASN/ASP 2194,1530 656,882,324 81 82 82 4381 3 0.1 15 dbSNP_100 82 839,7353 48,743,3305 yes missense MAP1A NM_002373.5 23 704,1625,3629 AA,AG,GG 10.2417,41.0849,25.4532 possibly-damaging 1461/2804 43818052 3033,8883 1862 4096 5958 SO:0001583 missense U38292 CCDS42031.1 15q15.3 2006-06-15 ENSG00000166963 ENSG00000166963 4130 6835 protein-coding gene gene with protein product 600178 MAP1L NA 7806212, 7629894 Standard NM_002373 XM_005254385 NA Approved uc001zrt.3 P78559 OTTHUMG00000059756 ENST00000382031.1:c.5095G>A chr15.hg19:g.43818052G>A ENSP00000371462:p.Asp1699Asn NA O95643|Q12973|Q15882|Q9UJT4 hg19 0.02 15.838492 AAGxATA COVERED 747 0.34203296703296704 329 0.6686991869918699 76 0.20994475138121546 270 0.47202797202797203 72 0.09498680738786279 G 14.00 2.405007 0.42613 0.589151 0.102417 ENSG00000166963 ENST00000382031;ENST00000399453;ENST00000300231 T;T;T 0.21543 2.31;2.0;2.0 3.98 3.02 0.34903 . . . . . T 0.00012 0.0000 L 0.49126 1.545 0.80722 P 0.0 B 0.26195 0.144 B 0.33042 0.157 T 0.21143 -1.0254 8 0.37606 T 0.19 -0.0114 13.2141 0.59849 0.0:0.1619:0.8381:0.0 rs2245715;rs60336985;rs2245715 1461 P78559 MAP1A_HUMAN N 1699;1461;1461 ENSP00000371462:D1699N;ENSP00000382380:D1461N;ENSP00000300231:D1461N ENSP00000300231:D1461N D + 1 0 MAP1A 41605344 0.004000 0.15560 0.077000 0.20336 0.498000 0.33706 1.414000 0.34736 0.947000 0.37659 0.563000 0.77884 GAT NOVEL MAP1A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000132895.2 2 14.684799 KEEP 0 4 120 91 3147 GG 1 1 0 + 11 60 397 0 0 22.61349 430 60 15926 636 ENST00000382031.1 0.024943 1 MAP1A 4130 __UNKNOWN__ __UNKNOWN__ 15 43823813 43823813 __UNKNOWN__ 3'UTR SNP A A G rs572837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43823813A>G ENST00000382031.1 + 0 10548 MAP1A_ENST00000300231.5_3'UTR|MAP1A_ENST00000399453.1_3'UTR P78559 MAP1A_HUMAN microtubule-associated protein 1A NA NA microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605) cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875) structural molecule activity (GO:0005198) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CATTGCAGATAGTGTAGTGCT 0.473 NA G||| 2653 0.529752 0.9735 0.3343 5008 , , NA 20457 0.4187 NA 0.2962 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U38292 CCDS42031.1 15q15.3 2006-06-15 ENSG00000166963 ENSG00000166963 4130 6835 protein-coding gene gene with protein product 600178 MAP1L NA 7806212, 7629894 Standard NM_002373 XM_005254385 NA Approved uc001zrt.3 P78559 OTTHUMG00000059756 ENST00000382031.1:c.*1391A>G chr15.hg19:g.43823813A>G NA O95643|Q12973|Q15882|Q9UJT4 hg19 0.02 8.516443 GATxGTG COVERED NOVEL MAP1A-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000132895.2 0 13.539982 KEEP 0 0 0 45 1381 AA 1 1 0 + 9 60 328 0 0 20.568783 223 60 8255 321 ENST00000382031.1 0.038793 1 PPIP5K1 9677 __UNKNOWN__ __UNKNOWN__ 15 43826557 43826557 __UNKNOWN__ 3'UTR SNP C C T rs689797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43826557C>T ENST00000360135.4 - 0 4661 PPIP5K1_ENST00000396923.3_3'UTR|PPIP5K1_ENST00000334933.4_3'UTR|PPIP5K1_ENST00000348806.6_3'UTR|PPIP5K1_ENST00000420765.1_3'UTR|PPIP5K1_ENST00000360301.4_3'UTR|PPIP5K1_ENST00000381879.4_3'UTR|PPIP5K1_ENST00000381885.1_3'UTR NM_001190214.1 NP_001177143.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 NA NA inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|plasma membrane (GO:0005886) acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827) large_intestine(1) 1 ATGGCTTCTTCGAACCTAAAA 0.507 NA T||| 2539 0.506989 0.8888 0.33 5008 , , NA 19100 0.4206 NA 0.2962 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF502586 CCDS32215.1, CCDS45252.1, CCDS53937.1 15q15.3 2010-01-27 2010-01-26 2010-01-26 ENSG00000168781 ENSG00000168781 9677 2.7.4.24 29023 protein-coding gene gene with protein product 610979 histidine acid phosphatase domain containing 2A HISPPD2A NA 17412958, 17690096, 18981179 Standard NM_014659 NM_001190214 NA Approved KIAA0377, IPS1, VIP1 uc001zrw.3 Q6PFW1 OTTHUMG00000059758 ENST00000360135.4:c.*315G>A chr15.hg19:g.43826557C>T NA O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0 hg19 CCDS53937.1 0.02 4.282688 CTTxGAA COVERED NOVEL PPIP5K1-004 NOVEL basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000132909.1 0 2.742458 KEEP 0 1 28 19 633 CC 0.999863 0.999863 0 - 6 60 227 0 0 14.886922 130 60 4313 175 ENST00000360135.4 0.044118 1 CATSPER2 117155 __UNKNOWN__ __UNKNOWN__ 15 43922003 43922003 __UNKNOWN__ 3'UTR SNP C C T rs28758851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43922003C>T ENST00000396879.1 - 0 2595 STRC_ENST00000541030.1_Intron NM_001282309.1 NP_001269238.1 Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 NA NA calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) AAAGAGACTTCCGGTCCAGAA 0.353 NA T||| 2432 0.485623 0.879 0.304 5008 , , NA 17329 0.3839 NA 0.2873 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF411817 CCDS10099.1, CCDS32216.1, CCDS73714.1 15q15.3 2011-07-05 ENSG00000166762 ENSG00000166762 117155 Voltage-gated ion channels / Cation channels, sperm associated 18810 protein-coding gene gene with protein product 607249 NA 11675491, 16382101 Standard NM_054020 NM_172095 NA Approved uc001zsh.3 Q96P56 OTTHUMG00000059902 ENST00000396879.1:c.*896G>A chr15.hg19:g.43922003C>T NA Q8NHT9|Q96P54|Q96P55 hg19 CCDS32216.1 0.02 16.778803 CTTxCGG COVERED NOVEL CATSPER2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000133150.2 5 15.781072 KEEP 0 1 21 60 2071 CC 1 1 0 - 15 49 536 0 0 32.96061 387 60 14267 563 ENST00000396879.1 0.037313 1 CKMT1A 548596 __UNKNOWN__ __UNKNOWN__ 15 43989518 43989518 __UNKNOWN__ Intron SNP A A G rs386783512|rs2467426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43989518A>G ENST00000413453.2 + 7 1400 CKMT1A_ENST00000434505.1_Intron|STRC_ENST00000541030.1_Intron P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A NA NA cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|creatine kinase activity (GO:0004111) lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TGTTCAGCACATAAGATATCC 0.418 NA a||| 1427 0.284944 0.5212 0.196 5008 , , NA 23128 0.3204 NA 0.1054 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001926, BC006467 CCDS32217.1 15q15 2005-08-09 ENSG00000223572 ENSG00000223572 548596 2.7.3.2 31736 protein-coding gene gene with protein product 613415 creatine kinase, mitochondrial 1 (ubiquitous) CKMT1 NA Standard XM_005254498 NA Approved uc001zsn.3 P12532 OTTHUMG00000059898 ENST00000413453.2:c.877-694A>G chr15.hg19:g.43989518A>G NA B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4 hg19 CCDS32217.1 0.02 34.466814 CACxTAA COVERED NOVEL CKMT1A-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000133136.1 3 17.386622 KEEP 1 1 32 69 2169 AA 1 1 0 + 54 60 1948 0 0 134.977381 738 60 27653 1067 ENST00000413453.2 0.068182 1 CKMT1A 548596 __UNKNOWN__ __UNKNOWN__ 15 43989530 43989530 __UNKNOWN__ Intron SNP T T C rs2927085|rs2467427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43989530T>C ENST00000413453.2 + 7 1400 CKMT1A_ENST00000434505.1_Intron|STRC_ENST00000541030.1_Intron P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A NA NA cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|creatine kinase activity (GO:0004111) lung(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) AAGATATCCCTGGTGGCATGG 0.423 NA t||| 2463 0.491813 0.8722 0.3069 5008 , , NA 23590 0.4077 NA 0.3151 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001926, BC006467 CCDS32217.1 15q15 2005-08-09 ENSG00000223572 ENSG00000223572 548596 2.7.3.2 31736 protein-coding gene gene with protein product 613415 creatine kinase, mitochondrial 1 (ubiquitous) CKMT1 NA Standard XM_005254498 NA Approved uc001zsn.3 P12532 OTTHUMG00000059898 ENST00000413453.2:c.877-682T>C chr15.hg19:g.43989530T>C NA B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4 hg19 CCDS32217.1 0.02 34.883004 CCCxGGT COVERED NOVEL CKMT1A-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000133136.1 2 15.180878 KEEP 0 1 33 62 1992 TT 1 1 0 + 56 60 1962 0 0 135.761922 723 60 27385 1051 ENST00000413453.2 0.071887 1 STRC 161497 __UNKNOWN__ __UNKNOWN__ 15 43997126 43997126 __UNKNOWN__ Intron SNP C C G rs555957065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:43997126C>G ENST00000541030.1 - 1 140 Q7RTU9 STRC_HUMAN stereocilin NA NA auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGGGCCAAGTCGAGAAGGGAC 0.473 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 17713 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BK000138 CCDS10098.1 15q15.3 2010-02-26 ENSG00000242866 ENSG00000242866 161497 16035 protein-coding gene gene with protein product 606440 DFNB16 NA 11687802, 9429146 Standard NM_153700 NM_153700 NA Approved uc001zsf.3 Q7RTU9 OTTHUMG00000059899 ENST00000541030.1:c.1102+13192G>C chr15.hg19:g.43997126C>G NA hg19 0.02 4.155575 AGTxGAG COVERED NOVEL STRC-201 KNOWN basic protein_coding NA protein_coding 1 3.611457 KEEP 0 0 0 12 402 CC 0.993634 0.993618 0 - 5 60 177 0 0 11.36024 100 60 3306 123 ENST00000541030.1 0.047619 0.999984 STRC 161497 __UNKNOWN__ __UNKNOWN__ 15 44000951 44000951 __UNKNOWN__ Intron SNP A A C rs117896706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44000951A>C ENST00000541030.1 - 1 140 Q7RTU9 STRC_HUMAN stereocilin NA NA auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CTCACTGTAGATTCCTGAGGG 0.473 NA A||| 34 0.00678914 0.0 0.0 5008 , , NA 23257 0.0327 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BK000138 CCDS10098.1 15q15.3 2010-02-26 ENSG00000242866 ENSG00000242866 161497 16035 protein-coding gene gene with protein product 606440 DFNB16 NA 11687802, 9429146 Standard NM_153700 NM_153700 NA Approved uc001zsf.3 Q7RTU9 OTTHUMG00000059899 ENST00000541030.1:c.1102+9367T>G chr15.hg19:g.44000951A>C NA hg19 0.02 13.690244 TAGxTTC COVERED NOVEL STRC-201 KNOWN basic protein_coding NA protein_coding 2 10.83418 KEEP 0 0 0 36 1188 AA 0.999999 0.999999 0 - 17 60 607 0 0 40.428792 294 60 10588 419 ENST00000541030.1 0.054662 1 STRC 161497 __UNKNOWN__ __UNKNOWN__ 15 44001071 44001071 __UNKNOWN__ Intron SNP G G C rs370956504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44001071G>C ENST00000541030.1 - 1 140 Q7RTU9 STRC_HUMAN stereocilin NA NA auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CCCTAGAGTGGAGAGGCAGGA 0.557 NA G||| 1158 0.23123 0.3865 0.1844 5008 , , NA 16015 0.2579 NA 0.0964 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BK000138 CCDS10098.1 15q15.3 2010-02-26 ENSG00000242866 ENSG00000242866 161497 16035 protein-coding gene gene with protein product 606440 DFNB16 NA 11687802, 9429146 Standard NM_153700 NM_153700 NA Approved uc001zsf.3 Q7RTU9 OTTHUMG00000059899 ENST00000541030.1:c.1102+9247C>G chr15.hg19:g.44001071G>C NA hg19 0.02 7.127408 GTGxAGA COVERED NOVEL STRC-201 KNOWN basic protein_coding NA protein_coding 2 9.325103 KEEP 90 0 0 31 1053 GG 0.99649 0.99649 0 - 11 40 390 0 0 26.439672 164 40 6076 331 ENST00000541030.1 0.062857 1 PDIA3 2923 __UNKNOWN__ __UNKNOWN__ 15 44064806 44064806 __UNKNOWN__ 3'UTR SNP A A C rs3862142|rs386783515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44064806A>C ENST00000300289.5 + 0 3056 ELL3_ENST00000319359.3_3'UTR NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) CAAAGGACACAGAAGCAGTCA 0.403 NA A||| 1066 0.212859 0.32 0.1801 5008 , , NA 18345 0.2619 NA 0.0964 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10101.1 15q15 2009-11-20 2005-06-29 2005-03-03 ENSG00000167004 ENSG00000167004 2923 5.3.4.1 Protein disulfide isomerases 4606 protein-coding gene gene with protein product 602046 glucose regulated protein, 58kDa, protein disulfide isomerase-associated 3 GRP58 NA 8974399 Standard NM_005313 NM_005313 NA Approved P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083 uc001zsu.3 P30101 OTTHUMG00000044444 ENST00000300289.5:c.*1390A>C chr15.hg19:g.44064806A>C NA Q13453|Q14255|Q8IYF8|Q9UMU7 hg19 CCDS10101.1 0.02 6.396696 CACxGAA COVERED NOVEL PDIA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103532.3 3 16.242386 KEEP 0 0 0 54 1683 AA 1 1 0 + 8 60 290 0 0 18.418245 182 60 6810 296 ENST00000300289.5 0.042105 1 PDIA3 2923 __UNKNOWN__ __UNKNOWN__ 15 44064886 44064886 __UNKNOWN__ 3'UTR SNP A A G rs2788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44064886A>G ENST00000300289.5 + 0 3136 RP11-296A16.1_ENST00000417761.2_3'UTR|ELL3_ENST00000319359.3_3'UTR NM_005313.4 NP_005304.3 P30101 PDIA3_HUMAN protein disulfide isomerase family A, member 3 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1) 17 all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.48e-07) GCCCTTTCCCATTATATCCAG 0.358 NA A||| 1070 0.213658 0.3222 0.1816 5008 , , NA 18896 0.2619 NA 0.0964 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10101.1 15q15 2009-11-20 2005-06-29 2005-03-03 ENSG00000167004 ENSG00000167004 2923 5.3.4.1 Protein disulfide isomerases 4606 protein-coding gene gene with protein product 602046 glucose regulated protein, 58kDa, protein disulfide isomerase-associated 3 GRP58 NA 8974399 Standard NM_005313 NM_005313 NA Approved P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083 uc001zsu.3 P30101 OTTHUMG00000044444 ENST00000300289.5:c.*1470A>G chr15.hg19:g.44064886A>G NA Q13453|Q14255|Q8IYF8|Q9UMU7 hg19 CCDS10101.1 0.02 6.307776 CCCxTTA COVERED NOVEL PDIA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103532.3 1 10.763649 KEEP 0 1 35 48 1458 AA 1 1 0 + 11 60 389 0 0 26.576015 155 60 5719 267 ENST00000300289.5 0.066265 1 ELL3 80237 __UNKNOWN__ __UNKNOWN__ 15 44069069 44069069 __UNKNOWN__ Missense_Mutation SNP G G C rs2277531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44069069G>C ENST00000319359.3 - 1 672 c.31C>G c.(31-33)Cag>Gag p.Q11E RP11-296A16.1_ENST00000417761.2_Intron NM_025165.2 NP_079441.1 Q9HB65 ELL3_HUMAN elongation factor RNA polymerase II-like 3 11 NA Q -> E (in dbSNP:rs2277531). DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366) nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) enhancer binding (GO:0035326) cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1) 13 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;7.81e-07) AGCCGGAGCTGTCCTCTCAGA 0.652 NA OREG0003946 type=REGULATORY REGION|Gene=NM_005770|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay G||| 1061 0.211861 0.32 0.1758 5008 , , NA 12505 0.2609 NA 0.0964 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 G GLU/GLN 1206,3190 394.2+/-329.2 157,892,1149 34 37 36 31 1.5 0.5 15 dbSNP_100 36 819,7777 182.3+/-230.8 37,745,3516 yes missense ELL3 NM_025165.2 29 194,1637,4665 CC,CG,GG 9.5277,27.434,15.5865 benign 11/398 44069069 2025,10967 2198 4298 6496 SO:0001583 missense AF276512 CCDS10102.1 15q15.1 2008-02-05 ENSG00000128886 ENSG00000128886 80237 23113 protein-coding gene gene with protein product 609885 NA 10882741 Standard NM_025165 NM_025165 NA Approved FLJ22637 uc001zsw.1 Q9HB65 OTTHUMG00000059936 ENST00000319359.3:c.31C>G chr15.hg19:g.44069069G>C ENSP00000320346:p.Gln11Glu 921 B3KQ66|B3KX08|Q6I9Z7|Q9H634 hg19 CCDS10102.1 0.02 9.435739 GCTxTCC COVERED 498 0.22802197802197802 166 0.33739837398373984 71 0.19613259668508287 178 0.3111888111888112 83 0.10949868073878628 G 8.314 0.822681 0.16678 0.27434 0.095277 ENSG00000128886 ENST00000319359;ENST00000433927 T;T 0.28666 1.6;1.6 5.39 1.53 0.23141 . 0.332281 0.24904 N 0.034667 T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 B 0.19073 0.033 B 0.17433 0.018 T 0.42732 -0.9434 9 0.51188 T 0.08 -42.4331 11.2871 0.49228 0.0:0.0:0.4793:0.5206 rs2277531;rs2277531 11 Q9HB65 ELL3_HUMAN E 11;41 ENSP00000320346:Q11E;ENSP00000404209:Q41E ENSP00000320346:Q11E Q - 1 0 ELL3 41856361 0.592000 0.26832 0.546000 0.28166 0.022000 0.10575 0.725000 0.25970 0.348000 0.23949 -0.457000 0.05445 CAG NOVEL ELL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000133236.2 1 53.109087 KEEP 0 1 39 190 6735 GG 1 1 0 - 10 60 353 0 0 22.167115 231 60 8764 569 ENST00000319359.3 0.041494 1 SERINC4 619189 __UNKNOWN__ __UNKNOWN__ 15 44089222 44089222 __UNKNOWN__ Intron SNP C C G rs2043878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44089222C>G ENST00000299969.6 - 6 990 SERINC4_ENST00000319327.6_Intron|SERF2_ENST00000594896.1_Intron|RP11-296A16.1_ENST00000417761.2_Intron|SERINC4_ENST00000249714.3_Intron|HYPK_ENST00000406925.1_5'UTR|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron A6NH21 SERC4_HUMAN serine incorporator 4 NA NA phospholipid biosynthetic process (GO:0008654) integral component of membrane (GO:0016021) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 6 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) GTCTCCCCATCCTTTGGTGGG 0.448 NA C||| 1439 0.28734 0.3381 0.1931 5008 , , NA 21044 0.4216 NA 0.1123 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant DQ103711 CCDS58360.1 15q15.3 2013-09-25 ENSG00000184716 ENSG00000184716 619189 32237 protein-coding gene gene with protein product 614550 NA Standard NM_001258031 NA Approved FLJ40363 uc031qrp.1 A6NH21 OTTHUMG00000060144 ENST00000299969.6:c.844+120G>C chr15.hg19:g.44089222C>G NA B2RN41|Q3YL75 hg19 0.02 4.23836 CATxCTT COVERED NOVEL SERINC4-004 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000133488.1 1 9.027679 KEEP 0 0 0 30 984 CC 0.999997 0.999997 0 - 5 60 194 0 0 12.404426 136 60 4900 176 ENST00000299969.6 0.035461 1 HYPK 25764 __UNKNOWN__ __UNKNOWN__ 15 44093927 44093927 __UNKNOWN__ Missense_Mutation SNP T T C rs12702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44093927T>C ENST00000406925.1 + 5 4424 c.313T>C c.(313-315)Tct>Cct p.S105P HYPK_ENST00000458412.1_3'UTR|SERF2_ENST00000600633.1_Missense_Mutation_p.S105P|SERF2_ENST00000594896.1_Missense_Mutation_p.S151P|HYPK_ENST00000442995.2_Missense_Mutation_p.S105P Q9NX55 HYPK_HUMAN huntingtin interacting protein K 105 NA S -> P (in dbSNP:rs12702). {ECO:0000269|PubMed:11042152}. cytoplasm (GO:0005737)|nucleus (GO:0005634) NA all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;8.1e-07) GATGGAGATATCTCGAGCAGC 0.458 NA T||| 1047 0.209065 0.3177 0.1801 5008 , , NA 17222 0.2599 NA 0.0954 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 T ,PRO/SER 1154,3242 407.3+/-334.2 142,870,1186 96 90 92 ,313 5.3 1 15 dbSNP_52 92 817,7779 189.8+/-236.5 39,739,3520 yes utr-3,missense C15orf63 NM_001199885.1,NM_016400.3 ,74 181,1609,4706 CC,CT,TT 9.5044,26.2511,15.1709 , ,105/130 44093927 1971,11021 2198 4298 6496 SO:0001583 missense AF049613 CCDS10104.1 15q14 2012-10-08 2012-10-08 2012-10-08 ENSG00000242028 ENSG00000242028 25764 18418 protein-coding gene gene with protein product Huntingtin yeast partner K 612784 chromosome 15 open reading frame 63 C15orf63 NA 9700202, 20154145 Standard NM_016400 NM_016400 NA Approved HSPC136, FLJ20431 uc001ztf.3 Q9NX55 OTTHUMG00000060146 ENST00000406925.1:c.313T>C chr15.hg19:g.44093927T>C ENSP00000384474:p.Ser105Pro NA C9JKJ0|O75408|Q8WUW8|Q9P024 hg19 CCDS10104.1 0.02 28.876747 ATAxCTC COVERED 464 0.21245421245421245 157 0.31910569105691056 68 0.1878453038674033 174 0.3041958041958042 65 0.08575197889182058 T 18.05 3.537166 0.65085 0.262511 0.095044 ENSG00000242028 ENST00000406925;ENST00000442995 T;T 0.52057 0.68;0.68 5.34 5.34 0.76211 . 0.054450 0.85682 D 0.000000 T 0.00012 0.0000 N 0.16567 0.415 0.09310 P 1.0 B 0.06786 0.001 B 0.11329 0.006 T 0.18745 -1.0327 9 0.45353 T 0.12 -8.4758 9.9009 0.41346 0.0:0.0754:0.0:0.9246 rs12702;rs1071657;rs3191169;rs8028332;rs52804577;rs56425911;rs12702 105 Q9NX55 HYPK_HUMAN P 105 ENSP00000384474:S105P;ENSP00000401155:S105P ENSP00000384474:S105P S + 1 0 C15orf63 41881219 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 3.965000 0.56788 2.248000 0.74166 0.533000 0.62120 TCT NOVEL HYPK-007 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000133876.3 5 55.005301 KEEP 0 1 35 195 6283 TT 1 1 0 + 16 60 611 0 0 35.829884 664 60 24370 1071 ENST00000406925.1 0.023529 1 MFAP1 4236 __UNKNOWN__ __UNKNOWN__ 15 44116986 44116986 __UNKNOWN__ 5'UTR SNP C C T rs3816792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44116986C>T ENST00000267812.3 - 0 14 NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 NA NA extracellular matrix organization (GO:0030198) extracellular region (GO:0005576)|microfibril (GO:0001527) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) GCTAGGAAGTCGAGTCGGTTT 0.517 NA OREG0003947 type=REGULATORY REGION|Gene=MFAP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay T||| 1064 0.21246 0.3283 0.1844 5008 , , NA 18545 0.2599 NA 0.0954 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS10105.1 15q15-q21 2014-05-20 ENSG00000140259 ENSG00000140259 4236 7032 protein-coding gene gene with protein product 600215 NA 7835894 Standard NM_005926 NM_005926 NA Approved uc001zth.1 P55081 OTTHUMG00000060145 ENST00000267812.3:c.-219G>A chr15.hg19:g.44116986C>T 921 Q86TG6 hg19 CCDS10105.1 0.02 10.618973 AGTxGAG COVERED NOVEL MFAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000133491.2 4 28.218154 KEEP 0 1 23 102 3356 CC 1 1 0 - 9 60 314 0 0 18.524911 267 60 9250 461 ENST00000267812.3 0.032609 1 WDR76 79968 __UNKNOWN__ __UNKNOWN__ 15 44127383 44127383 __UNKNOWN__ Intron SNP G G T rs144181930 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44127383G>T ENST00000381246.2 + 3 631 WDR76_ENST00000263795.6_Intron Q9H967 WDR76_HUMAN WD repeat domain 76 NA NA breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CAAGATGCAGggccgggaaca 0.483 NA G||| 78 0.0155751 0.0 0.0072 5008 , , NA 10546 0.0694 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G , 2,4394 4.2+/-10.8 0,2,2196 73 64 67 , 0.2 0 15 dbSNP_134 67 6,8590 5.0+/-18.6 0,6,4292 no intron,intron WDR76 NM_001167941.1,NM_024908.3 , 0,8,6488 TT,TG,GG 0.0698,0.0455,0.0616 , , 44127383 8,12984 2198 4298 6496 SO:0001627 intron_variant AK023035 CCDS10106.1, CCDS53938.1 15q15.3 2013-01-09 ENSG00000092470 ENSG00000092470 79968 WD repeat domain containing 25773 protein-coding gene gene with protein product NA 12860291 Standard NM_024908 NM_024908 NA Approved FLJ12973 uc001zti.2 Q9H967 OTTHUMG00000060143 ENST00000381246.2:c.360+35G>T chr15.hg19:g.44127383G>T NA A0MNP5|Q05CI4 hg19 CCDS53938.1 0.02 6.01496 CAGxGCC COVERED NOVEL WDR76-002 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000133483.4 5 14.145487 KEEP 0 0 0 47 1638 GG 1 1 0 + 7 60 239 0 0 14.280239 181 60 6563 285 ENST00000381246.2 0.037234 1 WDR76 79968 __UNKNOWN__ __UNKNOWN__ 15 44160582 44160582 __UNKNOWN__ 3'UTR SNP G G T rs11856795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44160582G>T ENST00000263795.6 + 0 3943 NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 NA NA breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) TAATTGCCTGGGCTCGTCAAT 0.333 NA G||| 1031 0.205871 0.3192 0.1758 5008 , , NA 18719 0.25 NA 0.0905 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023035 CCDS10106.1, CCDS53938.1 15q15.3 2013-01-09 ENSG00000092470 ENSG00000092470 79968 WD repeat domain containing 25773 protein-coding gene gene with protein product NA 12860291 Standard NM_024908 NM_024908 NA Approved FLJ12973 uc001zti.2 Q9H967 OTTHUMG00000060143 ENST00000263795.6:c.*1992G>T chr15.hg19:g.44160582G>T NA A0MNP5|Q05CI4 hg19 CCDS10106.1 0.02 6.7419 CTGxGCT COVERED NOVEL WDR76-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000133482.2 4 2.944614 KEEP 0 1 32 21 733 GG 0.999879 0.999879 0 + 7 60 261 0 0 16.919948 155 60 5588 206 ENST00000263795.6 0.04321 1 FRMD5 84978 __UNKNOWN__ __UNKNOWN__ 15 44168144 44168144 __UNKNOWN__ Intron SNP G G A rs118074011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44168144G>A ENST00000402883.1 - 14 1291 FRMD5_ENST00000484674.1_Intron|FRMD5_ENST00000417257.1_Intron Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021) breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TATAGGCAAGGCAAATGCTGC 0.428 NA .||| 86 0.0171725 0.0 0.0072 5008 , , NA 15513 0.0754 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007796 CCDS10107.2, CCDS73715.1, CCDS73716.1 15q15.3 2005-08-09 ENSG00000171877 ENSG00000171877 84978 28214 protein-coding gene gene with protein product NA Standard NM_032892 XM_005254729 NA Approved MGC14161 uc001ztl.3 Q7Z6J6 OTTHUMG00000060475 ENST00000402883.1:c.1136-1484C>T chr15.hg19:g.44168144G>A NA Q8NBG4 hg19 0.02 3.987664 AAGxCAA COVERED NOVEL FRMD5-009 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000317312.1 5 9.932678 KEEP 0 0 0 33 1188 GG 0.999998 0.999998 0 - 5 60 184 0 0 11.316595 142 60 5116 210 ENST00000402883.1 0.034014 1 FRMD5 84978 __UNKNOWN__ __UNKNOWN__ 15 44176103 44176103 __UNKNOWN__ Intron SNP A A G rs8023508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44176103A>G ENST00000402883.1 - 13 1184 FRMD5_ENST00000484674.1_Intron|FRMD5_ENST00000417257.1_Intron Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021) breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TTGCCTGGCTATATTAAGTCT 0.393 NA G||| 1435 0.286542 0.5197 0.2406 5008 , , NA 20513 0.2629 NA 0.1213 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007796 CCDS10107.2, CCDS73715.1, CCDS73716.1 15q15.3 2005-08-09 ENSG00000171877 ENSG00000171877 84978 28214 protein-coding gene gene with protein product NA Standard NM_032892 XM_005254729 NA Approved MGC14161 uc001ztl.3 Q7Z6J6 OTTHUMG00000060475 ENST00000402883.1:c.1029-96T>C chr15.hg19:g.44176103A>G NA Q8NBG4 hg19 0.02 6.734495 GCTxTAT COVERED NOVEL FRMD5-009 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000317312.1 0 6.317276 KEEP 0 0 0 21 629 AA 0.999869 0.999869 0 - 6 60 232 0 0 14.403226 191 60 7045 262 ENST00000402883.1 0.030457 1 FRMD5 84978 __UNKNOWN__ __UNKNOWN__ 15 44390496 44390496 __UNKNOWN__ Intron SNP G G A rs142143271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44390496G>A ENST00000402883.1 - 1 258 FRMD5_ENST00000484674.1_Intron|FRMD5_ENST00000417257.1_Intron Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021) breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) aggccaaggcgggcagatcac 0.488 NA g||| 220 0.0439297 0.1233 0.0043 5008 , , NA 17838 0.0496 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC007796 CCDS10107.2, CCDS73715.1, CCDS73716.1 15q15.3 2005-08-09 ENSG00000171877 ENSG00000171877 84978 28214 protein-coding gene gene with protein product NA Standard NM_032892 XM_005254729 NA Approved MGC14161 uc001ztl.3 Q7Z6J6 OTTHUMG00000060475 ENST00000402883.1:c.102+96654C>T chr15.hg19:g.44390496G>A NA Q8NBG4 hg19 0.02 -0.043866 GGCxGGC UNCOVERED NOVEL FRMD5-009 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000317312.1 1 2.407587 KEEP 0 0 0 8 265 GG 0.99257 0.023895 0 - 2 60 77 0 0 7.192821 3 60 108 15 ENST00000402883.1 0.4 0.024074 CASC4 113201 __UNKNOWN__ __UNKNOWN__ 15 44581600 44581600 __UNKNOWN__ Intron SNP C C T rs59997416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44581600C>T ENST00000345795.2 + 1 597 CASC4_ENST00000299957.6_Intron|CASC4_ENST00000360824.3_Intron|CASC4_ENST00000429162.2_Intron NM_177974.2 NP_816929.1 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TTCTTTTCTCCCCGGGGTCTG 0.552 NA T||| 754 0.150559 0.3351 0.036 5008 , , NA 17688 0.1974 NA 0.0249 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 T , 716,3192 58,600,1296 4 5 5 , -4.8 0 15 dbSNP_129 5 147,7885 0,147,3869 no intron,intron CASC4 NM_138423.3,NM_177974.2 , 58,747,5165 TT,TC,CC 1.8302,18.3214,7.2278 , , 44581600 863,11077 1954 4016 5970 SO:0001627 intron_variant AF103804 CCDS10108.1, CCDS10109.1 15q15.1 2010-11-24 ENSG00000166734 ENSG00000166734 113201 24892 protein-coding gene gene with protein product NA 10497265 Standard NM_138423 NM_138423 NA Approved H63, DKFZp459F1927 uc001ztp.3 Q6P4E1 OTTHUMG00000131133 ENST00000345795.2:c.327+46C>T chr15.hg19:g.44581600C>T NA B4DPZ6|G5E934|Q6UY45|Q96EM1 hg19 CCDS10109.1 0.02 11.122129 CTCxCCG COVERED NOVEL CASC4-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253816.1 6 36.954136 KEEP 0 1 32 134 4761 CC 1 1 0 + 15 60 495 0 0 31.460851 272 60 10122 549 ENST00000345795.2 0.052265 1 CTDSPL2 51496 __UNKNOWN__ __UNKNOWN__ 15 44819138 44819138 __UNKNOWN__ 3'UTR SNP C C G rs2288340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44819138C>G ENST00000260327.4 + 0 4730 CTDSPL2_ENST00000396780.1_3'UTR|CTDSPL2_ENST00000558373.1_3'UTR NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 NA NA phosphoprotein phosphatase activity (GO:0004721) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) TGGTAAATGTCTGACTTTTAA 0.338 NA C||| 169 0.033746 0.0378 0.0043 5008 , , NA 17372 0.0962 NA 0.002 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF161478 CCDS10110.1 15q15.3-q21.1 2010-06-21 ENSG00000137770 ENSG00000137770 51496 Serine/threonine phosphatases / CTD aspartate-based phosphatases 26936 protein-coding gene gene with protein product NA Standard NM_016396 NM_016396 NA Approved HSPC129, FLJ10523 uc001ztr.3 Q05D32 OTTHUMG00000131159 ENST00000260327.4:c.*2766C>G chr15.hg19:g.44819138C>G NA Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030 hg19 CCDS10110.1 0.02 7.406288 TGTxTGA COVERED NOVEL CTDSPL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253851.1 3 10.233035 KEEP 0 0 0 34 1205 CC 0.999998 0.999998 0 + 7 60 273 0 0 18.043932 159 60 5954 219 ENST00000260327.4 0.042169 1 EIF3J 8669 __UNKNOWN__ __UNKNOWN__ 15 44853186 44853186 __UNKNOWN__ Intron SNP G G T rs111356973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44853186G>T ENST00000535391.1 + 7 495 EIF3J_ENST00000424492.3_Intron|EIF3J_ENST00000261868.5_Intron eukaryotic translation initiation factor 3, subunit J NA NA endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GCACACTAAGGTTCATGAATT 0.418 NA T||| 615 0.122804 0.2458 0.0274 5008 , , NA 21737 0.1895 NA 0.0189 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 T 858,3538 740.5+/-411.2 100,658,1440 68 63 64 2.1 0 15 dbSNP_132 64 191,8405 809.7+/-407.1 1,189,4108 no intron EIF3J NM_003758.2 101,847,5548 TT,TG,GG 2.222,19.5177,8.0742 44853186 1049,11943 2198 4298 6496 SO:0001627 intron_variant U97670 CCDS10111.1, CCDS61612.1, CCDS61613.1 15q21.1 2014-05-13 2007-07-27 2007-07-27 ENSG00000104131 ENSG00000104131 8669 3270 protein-coding gene gene with protein product 603910 eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa EIF3S1 NA 9822659 Standard NM_003758 NM_001284335 NA Approved eIF3-p35, eIF3-alpha, eIF3j uc001ztv.3 O75822 OTTHUMG00000131158 ENST00000535391.1:c.484-30G>T chr15.hg19:g.44853186G>T NA hg19 0.02 14.405417 AAGxTTC COVERED NOVEL EIF3J-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396804.1 1 16.218424 KEEP 0 0 0 54 1899 GG 1 1 0 + 16 60 561 0 0 35.430188 339 60 12327 483 ENST00000535391.1 0.04507 1 EIF3J 8669 __UNKNOWN__ __UNKNOWN__ 15 44854785 44854785 __UNKNOWN__ 3'UTR SNP A A G rs2288342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44854785A>G ENST00000261868.5 + 0 2353 NM_003758.2 NP_003749.2 eukaryotic translation initiation factor 3, subunit J NA NA endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GTGATTTGAGAAATTAACAAA 0.299 NA G||| 813 0.16234 0.3003 0.0504 5008 , , NA 17396 0.252 NA 0.0239 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U97670 CCDS10111.1, CCDS61612.1, CCDS61613.1 15q21.1 2014-05-13 2007-07-27 2007-07-27 ENSG00000104131 ENSG00000104131 8669 3270 protein-coding gene gene with protein product 603910 eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa EIF3S1 NA 9822659 Standard NM_003758 NM_001284335 NA Approved eIF3-p35, eIF3-alpha, eIF3j uc001ztv.3 O75822 OTTHUMG00000131158 ENST00000261868.5:c.*1438A>G chr15.hg19:g.44854785A>G NA hg19 CCDS10111.1 0.02 6.457808 GAGxAAT COVERED NOVEL EIF3J-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000253850.1 0 6.018229 KEEP 0 0 0 20 637 AA 0.999863 0.999863 0 + 6 60 227 0 0 14.098628 177 60 6384 240 ENST00000261868.5 0.032787 1 SPG11 80208 __UNKNOWN__ __UNKNOWN__ 15 44896205 44896205 __UNKNOWN__ Intron SNP C C T rs78119351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44896205C>T ENST00000261866.7 - 20 3537 SPG11_ENST00000558319.1_Intron|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Intron NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) NA NA cell death (GO:0008219) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACTCCTGTCACGTACTATTCA 0.393 NA T||| 591 0.118011 0.2345 0.0101 5008 , , NA 15863 0.1905 NA 0.008 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10112.1, CCDS53939.1 15q13-q15 2007-11-13 ENSG00000104133 ENSG00000104133 80208 11226 protein-coding gene gene with protein product spatacsin 610844 KIAA1840 KIAA1840 NA 10408536, 17322883 Standard NM_001160227 NA Approved FLJ21439 uc001ztx.3 Q96JI7 OTTHUMG00000131199 ENST00000261866.7:c.3520+2017G>A chr15.hg19:g.44896205C>T NA A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734 hg19 CCDS10112.1 0.02 2.129684 TCAxGTA COVERED NOVEL SPG11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253927.1 0 4.212922 KEEP 0 0 0 14 471 CC 0.995343 0.993815 0 - 5 60 179 0 0 12.341262 69 60 2467 95 ENST00000261866.7 0.067568 0.998465 SPG11 80208 __UNKNOWN__ __UNKNOWN__ 15 44944341 44944341 __UNKNOWN__ Silent SNP G G A rs76823973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44944341G>A ENST00000261866.7 - 5 1009 c.993C>T c.(991-993)tcC>tcT p.S331S SPG11_ENST00000558319.1_Silent_p.S331S|SPG11_ENST00000535302.2_Silent_p.S331S|SPG11_ENST00000427534.2_Silent_p.S331S|SPG11_ENST00000559193.1_Silent_p.S331S NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 331 NA cell death (GO:0008219) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAATTTGGAAGGAAAACTTGG 0.363 NA G||| 114 0.0227636 0.003 0.0 5008 , , NA 20413 0.0982 NA 0.001 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 G , 43,4353 45.3+/-79.5 0,43,2155 125 118 120 993,993 -2.2 1 15 dbSNP_132 120 0,8596 0,0,4298 no coding-synonymous,coding-synonymous SPG11 NM_001160227.1,NM_025137.3 , 0,43,6453 AA,AG,GG 0.0,0.9782,0.331 , 331/2331,331/2444 44944341 43,12949 2198 4298 6496 SO:0001819 synonymous_variant CCDS10112.1, CCDS53939.1 15q13-q15 2007-11-13 ENSG00000104133 ENSG00000104133 80208 11226 protein-coding gene gene with protein product spatacsin 610844 KIAA1840 KIAA1840 NA 10408536, 17322883 Standard NM_001160227 NA Approved FLJ21439 uc001ztx.3 Q96JI7 OTTHUMG00000131199 ENST00000261866.7:c.993C>T chr15.hg19:g.44944341G>A NA A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734 hg19 CCDS10112.1 0.02 8.360785 GAAxGAA COVERED NOVEL SPG11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253927.1 3 17.146663 KEEP 0 0 0 57 2025 GG 1 1 0 - 7 60 256 0 0 15.377975 220 60 8477 350 ENST00000261866.7 0.030837 1 SPG11 80208 __UNKNOWN__ __UNKNOWN__ 15 44949329 44949329 __UNKNOWN__ Missense_Mutation SNP T T C rs75309308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:44949329T>C ENST00000261866.7 - 4 849 c.833A>G c.(832-834)aAc>aGc p.N278S SPG11_ENST00000558319.1_Missense_Mutation_p.N278S|SPG11_ENST00000535302.2_Missense_Mutation_p.N278S|SPG11_ENST00000427534.2_Missense_Mutation_p.N278S|SPG11_ENST00000559193.1_Missense_Mutation_p.N278S NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 278 NA cell death (GO:0008219) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AACTGCGGAGTTGGAGGAGCT 0.378 NA T||| 110 0.0219649 0.0 0.0 5008 , , NA 18394 0.0982 NA 0.001 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 T SER/ASN,SER/ASN 5,4391 9.9+/-24.2 0,5,2193 74 64 67 833,833 -0.4 0.7 15 dbSNP_131 67 0,8596 0,0,4298 yes missense,missense SPG11 NM_001160227.1,NM_025137.3 46,46 0,5,6491 CC,CT,TT 0.0,0.1137,0.0385 benign,benign 278/2331,278/2444 44949329 5,12987 2198 4298 6496 SO:0001583 missense CCDS10112.1, CCDS53939.1 15q13-q15 2007-11-13 ENSG00000104133 ENSG00000104133 80208 11226 protein-coding gene gene with protein product spatacsin 610844 KIAA1840 KIAA1840 NA 10408536, 17322883 Standard NM_001160227 NA Approved FLJ21439 uc001ztx.3 Q96JI7 OTTHUMG00000131199 ENST00000261866.7:c.833A>G chr15.hg19:g.44949329T>C ENSP00000261866:p.Asn278Ser NA A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734 hg19 CCDS10112.1 0.02 13.762679 GAGxTGG COVERED 44 0.020146520146520148 0 0.0 0 0.0 43 0.07517482517482517 1 0.0013192612137203166 T 1.221 -0.626977 0.03610 0.001137 0.0 ENSG00000104133 ENST00000261866;ENST00000535302;ENST00000427534 T;T;T 0.28069 1.63;1.63;1.63 5.71 -0.41 0.12374 . 0.413996 0.26314 N 0.025083 T 0.00695 0.0023 N 0.19112 0.55 0.09310 N 1 B;B;B;B 0.17667 0.012;0.023;0.003;0.012 B;B;B;B 0.16289 0.01;0.015;0.005;0.01 T 0.19192 -1.0313 10 0.20046 T 0.44 . 6.4412 0.21851 0.0:0.3855:0.1319:0.4826 . 278;278;278;278 C4B7M2;F5H3N6;B9EK60;Q96JI7 .;.;.;SPTCS_HUMAN S 278 ENSP00000261866:N278S;ENSP00000445278:N278S;ENSP00000396110:N278S ENSP00000261866:N278S N - 2 0 SPG11 42736621 0.000000 0.05858 0.705000 0.30386 0.084000 0.17831 -0.282000 0.08445 0.251000 0.21505 0.460000 0.39030 AAC NOVEL SPG11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000253927.1 6 28.914196 KEEP 0 1 5 98 3090 TT 1 1 0 - 10 60 383 0 0 23.822093 305 60 10730 489 ENST00000261866.7 0.031746 1 CTD-2008A1.2 0 __UNKNOWN__ __UNKNOWN__ 15 45131763 45131763 __UNKNOWN__ RNA SNP G G A rs28497325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:45131763G>A ENST00000561384.2 - 0 381 NA NA NA CCATGTCCGAGGGTGGGAGCA 0.498 NA A||| 1997 0.398762 0.8275 0.3026 5008 , , NA 21196 0.3958 NA 0.0815 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000561384.2: chr15.hg19:g.45131763G>A NA hg19 0.02 7.01845 CGAxGGT COVERED NOVEL CTD-2008A1.2-002 PUTATIVE basic processed_transcript NA pseudogene OTTHUMT00000416181.2 0 4.815791 KEEP 0 0 0 16 582 GG 0.997832 0.997832 0 - 8 60 299 0 0 19.610054 167 60 6162 225 ENST00000561384.2 0.045714 1 C15orf43 145645 __UNKNOWN__ __UNKNOWN__ 15 45270959 45270959 __UNKNOWN__ 3'UTR SNP T T A rs16976876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:45270959T>A ENST00000340827.3 + 0 813 NM_152448.2 NP_689661.1 Q8NHR7 CO043_HUMAN chromosome 15 open reading frame 43 NA NA NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2) 8 all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192) all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06) TCAAAGTATATCTTTAGGAAA 0.308 NA T||| 1099 0.219449 0.267 0.2176 5008 , , NA 15858 0.3006 NA 0.0915 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC029537 CCDS10115.1 15q21.1 2006-02-03 ENSG00000167014 ENSG00000167014 145645 28520 protein-coding gene gene with protein product NA Standard NM_152448 NM_152448 NA Approved MGC33951 uc001zuk.4 Q8NHR7 OTTHUMG00000131264 ENST00000340827.3:c.*133T>A chr15.hg19:g.45270959T>A NA hg19 CCDS10115.1 0.02 4.093685 ATAxCTT COVERED NOVEL C15orf43-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254032.1 1 4.511598 KEEP 0 0 0 15 450 TT 0.99649 0.996485 0 + 6 60 216 0 0 14.305305 106 60 3866 137 ENST00000340827.3 0.053571 0.999995 DUOX1 53905 __UNKNOWN__ __UNKNOWN__ 15 45433646 45433646 __UNKNOWN__ Intron SNP T T G rs1648283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:45433646T>G ENST00000321429.4 + 15 2091 DUOX1_ENST00000561166.1_Intron|DUOX1_ENST00000389037.3_Intron NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 NA NA cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590) apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GTGGTGGGTCTGGAGCCTCGT 0.567 NA T||| 1413 0.282149 0.0477 0.4063 5008 , , NA 17382 0.2222 NA 0.5249 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 T , 623,3773 267.7+/-268.0 49,525,1624 63 55 58 , -0.9 0 15 dbSNP_89 58 4645,3951 599.8+/-394.1 1240,2165,893 no intron,intron DUOX1 NM_017434.3,NM_175940.1 , 1289,2690,2517 GG,GT,TT 45.9632,14.172,40.548 , , 45433646 5268,7724 2198 4298 6496 SO:0001627 intron_variant AF213465 CCDS32221.1 15q21 2013-01-10 ENSG00000137857 53905 EF-hand domain containing 3062 protein-coding gene gene with protein product NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, nicotinamide adenine dinucleotide phosphate oxidase 606758 NA 10806195 Standard NM_017434 XM_005254463 NA Approved NOXEF1, THOX1, LNOX1 uc001zut.1 Q9NRD9 ENST00000321429.4:c.1684+38T>G chr15.hg19:g.45433646T>G NA A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1 hg19 CCDS32221.1 0.02 14.219058 GTCxGGA COVERED NOVEL DUOX1-006 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416251.1 4 14.139265 KEEP 0 0 0 47 1457 TT 1 1 0 + 19 60 638 0 0 41.834559 300 60 10976 464 ENST00000321429.4 0.059561 1 SHF 90525 __UNKNOWN__ __UNKNOWN__ 15 45491082 45491082 __UNKNOWN__ Missense_Mutation SNP G G A rs80131405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:45491082G>A ENST00000290894.8 - 2 685 c.191C>T c.(190-192)tCa>tTa p.S64L RP11-519G16.2_ENST00000560034.1_RNA|CTD-2651B20.7_ENST00000568314.1_RNA|SHF_ENST00000318390.6_Missense_Mutation_p.S121L NM_138356.2 NP_612365 Src homology 2 domain containing F NA NA endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) TGGTGATGATGAGATGGGCTC 0.597 NA OREG0023105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 497 0.0992412 0.0287 0.1585 5008 , , NA 17927 0.1677 NA 0.0606 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 G LEU/SER 105,3901 1,103,1899 92 94 93 191 1.2 0 15 dbSNP_131 93 485,7859 19,447,3706 yes missense SHF NM_138356.2 145 20,550,5605 AA,AG,GG 5.8126,2.6211,4.7773 benign 64/424 45491082 590,11760 2003 4172 6175 SO:0001583 missense BC007586 CCDS10120.2, CCDS73721.1 15q21.1 2013-02-14 ENSG00000138606 ENSG00000138606 90525 SH2 domain containing 25116 protein-coding gene gene with protein product NA 11095946 Standard NM_138356 NM_138356 NA Approved uc001zuy.3 Q7M4L6 OTTHUMG00000131353 ENST00000290894.8:c.191C>T chr15.hg19:g.45491082G>A ENSP00000290894:p.Ser64Leu 932 hg19 CCDS10120.2 0.02 14.770666 GATxAGA COVERED 197 0.0902014652014652 20 0.04065040650406504 47 0.1298342541436464 81 0.14160839160839161 49 0.06464379947229551 G 15.64 2.894526 0.52121 0.026211 0.058126 ENSG00000138606 ENST00000290894;ENST00000361989;ENST00000318390 T;T 0.41758 1.49;0.99 3.18 1.22 0.21188 . 340.967000 0.00166 N 0.000000 T 0.00210 0.0006 N 0.22421 0.69 0.80722 P 0.0 B 0.10296 0.003 B 0.08055 0.003 T 0.07083 -1.0791 9 0.34782 T 0.22 3.9819 3.9004 0.09159 0.1304:0.0:0.6354:0.2341 . 64 Q7M4L6 SHF_HUMAN L 64;64;121 ENSP00000290894:S64L;ENSP00000315978:S121L ENSP00000290894:S64L S - 2 0 SHF 43278374 0.013000 0.17824 0.000000 0.03702 0.004000 0.04260 1.251000 0.32862 0.343000 0.23821 0.655000 0.94253 TCA NOVEL SHF-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254141.2 1 74.572778 KEEP 0 1 23 256 8932 GG 1 1 0 - 14 60 508 0 0 31.620652 356 60 13414 779 ENST00000290894.8 0.037838 1 SLC30A4 7782 __UNKNOWN__ __UNKNOWN__ 15 45779810 45779810 __UNKNOWN__ Silent SNP G G A rs2453531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:45779810G>A ENST00000261867.4 - 6 1229 c.915C>T c.(913-915)gaC>gaT p.D305D RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 305 NA regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770) zinc ion transmembrane transporter activity (GO:0005385) endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TACAGATGGGGTCAGCAATCT 0.328 NA A||| 3810 0.760783 0.9092 0.6095 5008 , , NA 17991 0.7034 NA 0.7177 False NA ,,, NA NA NA 2504 0.771 NA NA NA NA 0 A 3821,575 257.7+/-262.0 1665,491,42 124 134 131 915 2.5 1 15 dbSNP_100 131 6015,2581 418.0+/-352.6 2104,1807,387 no coding-synonymous SLC30A4 NM_013309.4 3769,2298,429 AA,AG,GG 30.0256,13.0801,24.2919 305/430 45779810 9836,3156 2198 4298 6496 SO:0001819 synonymous_variant CCDS10125.1 15q21.1 2013-05-22 ENSG00000104154 ENSG00000104154 7782 Solute carriers 11015 protein-coding gene gene with protein product 602095 ZNT4 NA Standard NM_013309 NA Approved uc001zvj.3 O14863 OTTHUMG00000131439 ENST00000261867.4:c.915C>T chr15.hg19:g.45779810G>A NA Q8TC39 hg19 CCDS10125.1 0.02 1.945357 GGGxTCA COVERED NOVEL SLC30A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254236.1 0 9.330494 KEEP 0 0 0 31 1100 GG 0.999997 0.999927 0 - 5 60 187 0 0 12.55746 91 60 3383 163 ENST00000261867.4 0.052083 0.99993 SLC24A5 283652 __UNKNOWN__ __UNKNOWN__ 15 48426484 48426484 __UNKNOWN__ Missense_Mutation SNP A A G rs1426654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48426484A>G ENST00000341459.3 + 3 404 c.331A>G c.(331-333)Aca>Gca p.T111A SLC24A5_ENST00000449382.2_Missense_Mutation_p.T51A NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 111 NA T -> A (associated with SHEP4; greatly reduced exchange activity; dbSNP:rs1426654). {ECO:0000269|PubMed:16357253, ECO:0000269|PubMed:17999355}. ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TGTTGCAGGCACAACTTTCAT 0.378 NA G||| 2816 0.5623 0.9259 0.4107 5008 , , NA 20353 0.9881 NA 0.003 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 GRCh37 CM054862 SLC24A5 M rs1426654 G ALA/THR 3388,1008 373.9+/-321.0 1323,742,133 156 163 161 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 331 5.6 1 15 dbSNP_88 161 42,8552 816.9+/-406.9 1,40,4256 yes missense SLC24A5 NM_205850.2 58 1324,782,4389 GG,GA,AA 0.4887,22.9299,26.4049 benign 111/501 48426484 3430,9560 2198 4297 6495 SO:0001583 missense AF348468 CCDS10128.1 15q21.1 2014-01-28 2013-07-18 ENSG00000188467 ENSG00000188467 283652 Solute carriers 20611 protein-coding gene gene with protein product oculocutaneous albinism 6 (autosomal recessive) 609802 solute carrier family 24, member 5 NA 23364476 Standard NM_205850 XM_005254308 NA Approved JSX, OCA6 uc001zwe.3 Q71RS6 OTTHUMG00000131494 ENST00000341459.3:c.331A>G chr15.hg19:g.48426484A>G ENSP00000341550:p.Thr111Ala NA A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3 hg19 CCDS10128.1 0.02 12.928944 GGCxCAA COVERED 1141 0.5224358974358975 454 0.9227642276422764 120 0.3314917127071823 564 0.986013986013986 3 0.00395778364116095 G 9.239 1.037742 0.19669 0.770701 0.004887 ENSG00000188467 ENST00000341459;ENST00000449382 T;T 0.61510 0.1;0.1 5.55 5.55 0.83447 Sodium/calcium exchanger membrane region (1); 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00007 -3.17 0.44908 P 0.0020719999999999628 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.44817 -0.9303 9 0.02654 T 1 . 14.8111 0.69996 0.0685:0.0:0.9315:0.0 rs1426654;rs52802038;rs58147390;rs1426654 51;111 A5X8Z9;Q71RS6 .;NCKX5_HUMAN A 111;51 ENSP00000341550:T111A;ENSP00000389966:T51A ENSP00000341550:T111A T + 1 0 SLC24A5 46213776 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 7.460000 0.80816 1.604000 0.50143 -0.186000 0.12905 ACA NOVEL SLC24A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254340.2 1 10.229725 KEEP 0 0 0 34 1062 AA 0.999998 0.999998 0 + 11 60 393 0 0 23.448566 331 60 12137 456 ENST00000341459.3 0.032164 1 SLC12A1 6557 __UNKNOWN__ __UNKNOWN__ 15 48519932 48519932 __UNKNOWN__ Intron SNP G G A rs12907018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48519932G>A ENST00000330289.6 + 4 910 SLC12A1_ENST00000396577.3_Intron|SLC12A1_ENST00000380993.3_Intron|SLC12A1_ENST00000558405.1_Intron|SLC12A1_ENST00000559723.1_Intron Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 NA NA cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium:potassium:chloride symporter activity (GO:0008511) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTGTTGTTCTGTCTTCCTTTG 0.428 NA A||| 2117 0.422724 0.618 0.3127 5008 , , NA 20768 0.7629 NA 0.0934 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10129.2, CCDS53940.1 15q15-q21 2013-07-18 2013-07-18 ENSG00000074803 ENSG00000074803 6557 Solute carriers 10910 protein-coding gene gene with protein product 600839 NA 8640224 Standard NM_000338 NA Approved NKCC2 uc010bem.3 Q13621 OTTHUMG00000131495 ENST00000330289.6:c.724+1164G>A chr15.hg19:g.48519932G>A NA A8JYA2|E9PDW4 hg19 0.02 15.618768 TCTxTCT COVERED NOVEL SLC12A1-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417130.1 5 9.26579 KEEP 0 1 32 42 1532 GG 1 1 0 + 13 60 459 0 0 27.951856 340 60 12913 511 ENST00000330289.6 0.036827 1 SLC12A1 6557 __UNKNOWN__ __UNKNOWN__ 15 48541933 48541933 __UNKNOWN__ Intron SNP C C T rs79825500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48541933C>T ENST00000396577.3 + 14 2001 SLC12A1_ENST00000380993.3_Intron|SLC12A1_ENST00000558405.1_Intron NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 NA NA cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) sodium:potassium:chloride symporter activity (GO:0008511) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CTCAATAAAACGAAATAAATC 0.363 NA T||| 154 0.0307508 0.0 0.0 5008 , , NA 20783 0.0913 NA 0.0 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10129.2, CCDS53940.1 15q15-q21 2013-07-18 2013-07-18 ENSG00000074803 ENSG00000074803 6557 Solute carriers 10910 protein-coding gene gene with protein product 600839 NA 8640224 Standard NM_000338 NA Approved NKCC2 uc010bem.3 Q13621 OTTHUMG00000131495 ENST00000396577.3:c.1786+60C>T chr15.hg19:g.48541933C>T NA A8JYA2|E9PDW4 hg19 CCDS53940.1 0.02 8.190987 AAAxGAA COVERED NOVEL SLC12A1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254341.1 0 6.319755 KEEP 0 0 0 21 691 CC 0.999869 0.999869 0 + 7 60 259 0 0 15.57071 228 60 7368 264 ENST00000396577.3 0.029787 1 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48701228 48701228 __UNKNOWN__ 3'UTR SNP C C T rs12050562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48701228C>T ENST00000316623.5 - 0 11030 NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) aatctcttacccaaggtacaa 0.328 NA C||| 435 0.086861 0.0756 0.0764 5008 , , NA 19362 0.2421 NA 0.002 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.*1959G>A chr15.hg19:g.48701228C>T NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 6.689485 TACxCAA COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 2 15.650478 KEEP 0 0 0 52 1829 CC 1 1 0 - 6 60 228 0 0 14.424973 162 60 5899 269 ENST00000316623.5 0.035714 1 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48760545 48760545 __UNKNOWN__ Intron SNP T T C rs2279235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48760545T>C ENST00000316623.5 - 37 5038 NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AATGGAATGTTTGGTGCTGTT 0.333 NA T||| 320 0.0638978 0.0015 0.062 5008 , , NA 20831 0.2371 NA 0.001 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.4582+63A>G chr15.hg19:g.48760545T>C NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 4.240522 TGTxTGG COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 3 6.616357 KEEP 0 0 0 22 651 TT 0.999879 0.999877 0 - 5 60 187 0 0 12.099142 113 60 4059 165 ENST00000316623.5 0.042373 0.999998 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48779402 48779402 __UNKNOWN__ Intron SNP C C T rs11853943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48779402C>T ENST00000316623.5 - 29 3919 NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TGATGTCTGTCGGGAAAATAA 0.458 NA T||| 984 0.196486 0.1604 0.1787 5008 , , NA 15025 0.3512 NA 0.1461 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 T 737,3659 756.2+/-412.6 61,615,1522 80 77 78 -0.9 0.1 15 dbSNP_120 78 1194,7398 763.3+/-407.6 73,1048,3175 no intron FBN1 NM_000138.4 134,1663,4697 TT,TC,CC 13.8966,16.7652,14.8676 48779402 1931,11057 2198 4296 6494 SO:0001627 intron_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.3464-5G>A chr15.hg19:g.48779402C>T NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 12.819393 TGTxGGG COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 1 23.166894 KEEP 0 0 0 77 2612 CC 1 1 0 - 10 60 367 0 0 22.312722 299 60 10781 460 ENST00000316623.5 0.032362 1 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48779530 48779530 __UNKNOWN__ Missense_Mutation SNP G G C rs140598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48779530G>C ENST00000316623.5 - 28 3897 c.3442C>G c.(3442-3444)Ccc>Gcc p.P1148A NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 1148 EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA P -> A (in dbSNP:rs140598). {ECO:0000269|PubMed:20547088, ECO:0000269|PubMed:8281141, ECO:0000269|PubMed:8988160, ECO:0000269|PubMed:9150726, ECO:0000269|PubMed:9338588}. extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GAGATGTTGGGGGACAGCTGA 0.488 NA G||| 299 0.0597045 0.0098 0.062 5008 , , NA 19156 0.2292 NA 0.001 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 GRCh37 HM0656 FBN1 M rs140598 G ALA/PRO 39,4357 43.8+/-77.6 0,39,2159 109 108 108 3442 5.6 1 15 dbSNP_78 108 8,8584 7.1+/-27.0 0,8,4288 yes missense FBN1 NM_000138.4 27 0,47,6447 CC,CG,GG 0.0931,0.8872,0.3619 possibly-damaging 1148/2872 48779530 47,12941 2198 4296 6494 SO:0001583 missense X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.3442C>G chr15.hg19:g.48779530G>C ENSP00000325527:p.Pro1148Ala NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 14.332618 TGGxGGA COVERED 169 0.07738095238095238 3 0.006097560975609756 13 0.03591160220994475 152 0.26573426573426573 1 0.0013192612137203166 G 17.50 3.405054 0.62288 0.008872 9.31E-4 ENSG00000166147 ENST00000316623 D 0.91686 -2.89 5.6 5.6 0.85130 EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.000000 0.85682 D 0.000000 T 0.00073 0.0002 L 0.37561 1.115 0.09310 P 0.9999999999999998 B 0.09022 0.002 B 0.14578 0.011 T 0.08659 -1.0711 9 0.25751 T 0.34 . 19.2077 0.93739 0.0:0.0:1.0:0.0 rs140598;rs2229325;rs7175654;rs140598 1148 P35555 FBN1_HUMAN A 1148 ENSP00000325527:P1148A ENSP00000325527:P1148A P - 1 0 FBN1 46566822 0.996000 0.38824 1.000000 0.80357 0.967000 0.64934 1.993000 0.40747 2.639000 0.89480 0.655000 0.94253 CCC NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 2 24.077259 KEEP 0 0 0 80 2783 GG 1 1 0 - 16 60 587 0 0 39.076515 290 60 10637 457 ENST00000316623.5 0.052288 1 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48789634 48789634 __UNKNOWN__ Intron SNP T T C rs140605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48789634T>C ENST00000316623.5 - 19 2623 NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATAAAATAAATACTGAATGAA 0.303 NA C||| 1896 0.378594 0.6536 0.268 5008 , , NA 19155 0.3522 NA 0.2555 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 C 2487,1893 718,1051,421 34 30 32 -0.2 0 15 dbSNP_78 32 2082,6496 256,1570,2463 no intron FBN1 NM_000138.4 974,2621,2884 CC,CT,TT 24.2714,43.2192,35.2601 48789634 4569,8389 2190 4289 6479 SO:0001627 intron_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.2168-46A>G chr15.hg19:g.48789634T>C NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 2.385472 AAAxACT COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 2 4.812977 KEEP 0 0 0 16 481 TT 0.997832 0.997052 0 - 7 60 277 0 0 20.7324 73 60 2546 98 ENST00000316623.5 0.0875 0.999218 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48797307 48797307 __UNKNOWN__ Silent SNP A A G rs25458 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48797307A>G ENST00000316623.5 - 16 2330 c.1875T>C c.(1873-1875)aaT>aaC p.N625N NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 625 EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGCAACGCCCATTCATGCAGA 0.443 NA A||| 1487 0.296925 0.5106 0.2046 5008 , , NA 19066 0.3522 NA 0.1501 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 GRCh37 CM070116 FBN1 M rs25458 A 1954,2440 553.3+/-378.7 441,1072,684 151 142 145 1875 -3.3 1 15 dbSNP_71 145 1220,7372 246.8+/-275.1 79,1062,3155 no coding-synonymous FBN1 NM_000138.4 520,2134,3839 GG,GA,AA 14.1993,44.4697,24.4417 625/2872 48797307 3174,9812 2197 4296 6493 SO:0001819 synonymous_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.1875T>C chr15.hg19:g.48797307A>G NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 6.041186 CCCxTTC COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 2 14.416998 KEEP 0 0 0 48 1466 AA 1 1 0 - 6 60 212 0 0 12.579195 179 60 6627 286 ENST00000316623.5 0.032432 1 FBN1 2200 __UNKNOWN__ __UNKNOWN__ 15 48805637 48805637 __UNKNOWN__ Intron SNP G G A rs2306352 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:48805637G>A ENST00000316623.5 - 13 2044 NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 NA NA extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501) basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCACGGGACTGTATTAGTCTC 0.423 NA A||| 2013 0.401957 0.7421 0.2723 5008 , , NA 18544 0.3522 NA 0.2535 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X63556 CCDS32232.1 15q21.1 2014-09-17 2006-04-25 ENSG00000166147 2200 3603 protein-coding gene gene with protein product Marfan syndrome 134797 fibrillin 1 (Marfan syndrome) FBN, MFS1, WMS NA 10036187, 12525539 Standard NM_000138 NA Approved MASS, OCTD, SGS uc001zwx.2 P35555 ENST00000316623.5:c.1588+108C>T chr15.hg19:g.48805637G>A NA B2RUU0|D2JYH6|Q15972|Q75N87 hg19 CCDS32232.1 0.02 6.141122 ACTxTAT COVERED NOVEL FBN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417355.1 2 12.941753 KEEP 0 0 0 43 1516 GG 1 1 0 - 8 60 292 0 0 18.712213 177 60 6723 253 ENST00000316623.5 0.043243 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 49017656 49017656 __UNKNOWN__ IGR SNP T T G rs7180856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:49017656T>G NA NA RP11-227D13.1 (73443 upstream) : RP11-227D13.4 (3620 downstream) NA NA NA GCTTGAAAACTCTTTATCGAA 0.418 NA T||| 1376 0.27476 0.4175 0.1844 5008 , , NA 20011 0.4216 NA 0.1064 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.49017656T>G NA hg19 0.02 22.180694 AACxCTT COVERED NOVEL 0 2 13.176908 KEEP 0 4 132 90 2854 TT 1 1 0 17 60 597 0 0 34.648617 552 60 20488 820 0.029877 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 49018193 49018193 __UNKNOWN__ IGR SNP A A C rs8040242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:49018193A>C NA NA RP11-227D13.1 (73980 upstream) : RP11-227D13.4 (3083 downstream) NA NA NA TTTTTCAAATAATGTTCTTGT 0.338 NA C||| 2310 0.461262 0.6899 0.389 5008 , , NA 18530 0.5982 NA 0.1571 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.49018193A>C NA hg19 0.02 18.752077 AATxATG COVERED NOVEL 0 6 14.167314 KEEP 1 1 31 58 1744 AA 1 1 0 27 60 1017 0 0 71.189817 389 60 13791 514 0.064904 1 CEP152 22995 __UNKNOWN__ __UNKNOWN__ 15 49033225 49033225 __UNKNOWN__ Intron SNP A A T rs784406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:49033225A>T ENST00000380950.2 - 26 4281 CEP152_ENST00000399334.3_Intron|CEP152_ENST00000325747.5_3'UTR NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa NA NA cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634) protein kinase binding (GO:0019901) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TAATTGCAATAGTCATCTCCC 0.428 NA T||| 2322 0.463658 0.7027 0.3876 5008 , , NA 17594 0.5972 NA 0.1571 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020719 CCDS42033.1, CCDS58361.1 15q21.1 2014-02-20 22995 29298 protein-coding gene gene with protein product asterless 613529 microcephaly, primary autosomal recessive 4 MCPH4 NA 14654843, 21131973 Standard NM_014985 NM_014985 NA Approved KIAA0912, SCKL5 uc001zwz.3 O94986 ENST00000380950.2:c.4093+572T>A chr15.hg19:g.49033225A>T NA E7ER66|Q17RV1|Q6NTA0 hg19 CCDS58361.1 0.02 6.566971 AATxGTC COVERED NOVEL CEP152-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417365.1 5 12.336271 KEEP 0 0 0 41 1286 AA 1 1 0 - 7 60 257 0 0 16.160493 175 60 6416 270 ENST00000380950.2 0.038462 1 EID1 23741 __UNKNOWN__ __UNKNOWN__ 15 49172317 49172317 __UNKNOWN__ 3'UTR SNP T T G rs10519197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:49172317T>G ENST00000530028.2 + 0 2235 SHC4_ENST00000332408.4_Intron NM_014335.2 NP_055150.1 EP300 interacting inhibitor of differentiation 1 NA NA liver(1)|prostate(1) 2 all_lung(180;0.00455) all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07) TCAGTAAAAATGTTCCAAATG 0.358 NA G||| 1099 0.219449 0.2194 0.2795 5008 , , NA 20949 0.2788 NA 0.1054 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF092135 CCDS53941.1 15q21.1 2006-10-12 2006-10-12 2006-10-12 ENSG00000255302 23741 1191 protein-coding gene gene with protein product 605894 CREBBP/EP300 inhibitory protein 1, CREBBP/EP300 inhibitor 1 C15orf3, CRI1 NA 10828624, 11073990 Standard NM_014335 NM_014335 NA Approved EID-1 uc001zxc.1 Q9Y6B2 ENST00000530028.2:c.*1380T>G chr15.hg19:g.49172317T>G NA hg19 CCDS53941.1 0.02 5.092849 AAAxGTT COVERED NOVEL EID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000387033.2 1 11.43442 KEEP 0 0 0 38 1203 TT 1 0.999995 0 + 6 60 239 0 0 16.605843 106 60 3909 187 ENST00000530028.2 0.053571 0.999995 FGF7 2252 __UNKNOWN__ __UNKNOWN__ 15 49780002 49780002 __UNKNOWN__ 3'UTR SNP C C A rs72729121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:49780002C>A ENST00000267843.4 + 0 4497 FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 NA NA actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165) extracellular region (GO:0005576)|Golgi apparatus (GO:0005794) chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) tttgtggttgcgttaatatga 0.378 NA C||| 398 0.0794728 0.0068 0.0951 5008 , , NA 19522 0.1577 NA 0.0626 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M60828 CCDS10131.1 15q21.2 2014-01-30 2010-08-18 ENSG00000140285 ENSG00000140285 2252 Endogenous ligands 3685 protein-coding gene gene with protein product keratinocyte growth factor 148180 fibroblast growth factor 7 (keratinocyte growth factor) NA 7749227, 1409637 Standard NM_002009 NM_002009 NA Approved KGF uc001zxn.3 P21781 OTTHUMG00000131517 ENST00000267843.4:c.*3301C>A chr15.hg19:g.49780002C>A NA H0YNY5|Q6FGV5|Q96FG5 hg19 CCDS10131.1 0.02 10.83591 TTGxGTT COVERED NOVEL FGF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254374.3 1 11.67169 KEEP 0 1 29 49 1705 CC 1 1 0 + 10 60 370 0 0 23.139128 264 60 9752 361 ENST00000267843.4 0.036496 1 ATP8B4 79895 __UNKNOWN__ __UNKNOWN__ 15 50151659 50151659 __UNKNOWN__ 3'UTR SNP C C T rs143606180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50151659C>T ENST00000284509.6 - 0 4452 ATP8B4_ENST00000559829.1_3'UTR NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TACTTAGTGGCGAGCCTCTCT 0.378 NA C||| 25 0.00499201 0.0 0.0 5008 , , NA 17599 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB075819 CCDS32238.1 15q21.2 2010-04-20 2007-09-19 ENSG00000104043 ENSG00000104043 79895 ATPases / P-type 13536 protein-coding gene gene with protein product 609123 ATPase, Class I, type 8B, member 4 NA 11015572 Standard NM_024837 NM_024837 NA Approved ATPIM, KIAA1939 uc001zxu.3 Q8TF62 ENST00000284509.6:c.*732G>A chr15.hg19:g.50151659C>T NA Q9H727 hg19 CCDS32238.1 0.02 4.086837 TGGxGAG COVERED NOVEL ATP8B4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418100.1 3 14.743591 KEEP 0 0 0 49 1615 CC 1 0.999995 0 - 6 60 219 0 0 14.586431 107 60 3608 196 ENST00000284509.6 0.053097 0.999995 ATP8B4 79895 __UNKNOWN__ __UNKNOWN__ 15 50301481 50301481 __UNKNOWN__ Intron SNP T T C rs72734856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50301481T>C ENST00000284509.6 - 7 577 ATP8B4_ENST00000558959.1_Intron|ATP8B4_ENST00000559829.1_Intron NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 NA NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TTTTTTCCTGTCTTCTTTCTT 0.338 NA T||| 687 0.137181 0.0484 0.0648 5008 , , NA 19896 0.3026 NA 0.0835 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB075819 CCDS32238.1 15q21.2 2010-04-20 2007-09-19 ENSG00000104043 ENSG00000104043 79895 ATPases / P-type 13536 protein-coding gene gene with protein product 609123 ATPase, Class I, type 8B, member 4 NA 11015572 Standard NM_024837 NM_024837 NA Approved ATPIM, KIAA1939 uc001zxu.3 Q8TF62 ENST00000284509.6:c.435+1560A>G chr15.hg19:g.50301481T>C NA Q9H727 hg19 CCDS32238.1 0.02 1.898234 CTGxCTT COVERED NOVEL ATP8B4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418100.1 1 3.309664 KEEP 0 0 0 11 335 TT 0.993072 0.992909 0 - 6 60 221 0 0 15.391895 84 60 2911 107 ENST00000284509.6 0.066667 0.999835 SLC27A2 11001 __UNKNOWN__ __UNKNOWN__ 15 50518393 50518393 __UNKNOWN__ Intron SNP T T C rs17848325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50518393T>C ENST00000544960.1 + 7 1132 SLC27A2_ENST00000380902.4_Intron|SLC27A2_ENST00000267842.5_Intron O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 NA NA bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760) endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778) ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957) NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AAAAGGGGGGTTTATTTAAGT 0.363 NA T||| 151 0.0301518 0.0242 0.0 5008 , , NA 17285 0.1141 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D88308 CCDS10133.1, CCDS53943.1 15q21.2 2013-05-22 ENSG00000140284 ENSG00000140284 11001 Acyl-CoA synthetase family, Solute carriers 10996 protein-coding gene gene with protein product 603247 FACVL1 NA 9730624 Standard NM_003645 NM_003645 NA Approved FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1 uc001zxw.3 O14975 OTTHUMG00000131643 ENST00000544960.1:c.553+118T>C chr15.hg19:g.50518393T>C NA A8K2J7|Q53FY6|Q6PF09 hg19 0.02 6.613731 GGGxTTA COVERED NOVEL SLC27A2-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418285.1 1 6.318637 KEEP 0 0 0 21 675 TT 0.999869 0.999869 0 + 7 60 259 0 0 16.261132 181 60 6417 216 ENST00000544960.1 0.037234 1 HDC 3067 __UNKNOWN__ __UNKNOWN__ 15 50534703 50534703 __UNKNOWN__ Silent SNP C C T rs16963485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50534703C>T ENST00000267845.3 - 12 2145 c.1743G>A c.(1741-1743)acG>acA p.T581T HDC_ENST00000543581.1_Silent_p.T548T NM_002112.3 NP_002103.2 Q9UBI9 HDC_HUMAN histidine decarboxylase 0 NA respiratory tube development (GO:0030323) membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) GGGAGCGCACCGTCTTCTTCT 0.542 NA C||| 144 0.028754 0.0242 0.0 5008 , , NA 17859 0.1071 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA GBM(95;1627 1936 6910 9570) NA 0 C 50,4342 50.9+/-86.3 0,50,2146 165 174 171 1743 -10.9 0.1 15 dbSNP_123 171 5,8585 3.0+/-9.4 0,5,4290 no coding-synonymous HDC NM_002112.3 0,55,6436 TT,TC,CC 0.0582,1.1384,0.4237 581/663 50534703 55,12927 2196 4295 6491 SO:0001819 synonymous_variant CCDS10134.1 15q21.2 2013-09-20 ENSG00000140287 ENSG00000140287 3067 4.1.1.22 4855 protein-coding gene gene with protein product 142704 NA 1487235 Standard NM_002112 NA Approved uc001zxz.3 P19113 OTTHUMG00000131644 ENST00000267845.3:c.1743G>A chr15.hg19:g.50534703C>T NA hg19 CCDS10134.1 0.02 6.832769 CACxGTC COVERED NOVEL HDC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254540.1 0 6.018149 KEEP 0 0 0 20 662 CC 0.999863 0.999863 0 - 6 60 224 0 0 14.29776 146 60 4900 190 ENST00000267845.3 0.039474 1 GABPB1 2553 __UNKNOWN__ __UNKNOWN__ 15 50577964 50577964 __UNKNOWN__ Intron SNP G G T rs16963578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50577964G>T ENST00000380877.3 - 8 1423 GABPB1_ENST00000220429.8_Intron|GABPB1_ENST00000543881.1_Intron NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 CTTTAGTGACGTGTAAGAATG 0.333 NA G||| 544 0.108626 0.3222 0.0288 5008 , , NA 16267 0.0933 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D13316 CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1 15q21.2 2013-01-10 2008-02-25 2008-02-25 ENSG00000104064 ENSG00000104064 2553 Ankyrin repeat domain containing 4074 protein-coding gene gene with protein product 600610 GA binding protein transcription factor, beta subunit 2 GABPB2 NA 7958862 Standard NM_016655 NA Approved E4TF1-47, GABPB uc001zyb.3 Q06547 OTTHUMG00000131642 ENST00000380877.3:c.999+300C>A chr15.hg19:g.50577964G>T NA A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0 hg19 CCDS10135.1 0.02 2.054121 GACxTGT COVERED NOVEL GABPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254537.2 0 5.115345 KEEP 0 0 0 17 564 GG 0.999366 0.999286 0 - 4 60 150 0 0 9.708716 91 60 3033 132 ENST00000380877.3 0.042105 0.999919 TRPM7 54822 __UNKNOWN__ __UNKNOWN__ 15 50867082 50867082 __UNKNOWN__ Silent SNP G G A rs473357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50867082G>A ENST00000313478.7 - 34 5267 c.4986C>T c.(4984-4986)taC>taT p.Y1662Y TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Silent_p.Y1661Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1662 Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}. NA actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TATCTTCTTTGTAAATACTTG 0.323 NA A||| 3063 0.611621 0.7073 0.6066 5008 , , NA 17833 0.6121 NA 0.5606 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 A 2386,1224 802,782,221 81 79 79 4986 3 1 15 dbSNP_83 79 4591,3559 1302,1987,786 no coding-synonymous TRPM7 NM_017672.4 2104,2769,1007 AA,AG,GG 43.6687,33.9058,40.6718 1662/1866 50867082 6977,4783 1805 4075 5880 SO:0001819 synonymous_variant AF346629 CCDS42035.1, CCDS73725.1 15q21 2011-12-14 ENSG00000092439 54822 Voltage-gated ion channels / Transient receptor potential cation channels 17994 protein-coding gene gene with protein product 605692 NA 11161216, 11385574, 16382100 Standard NM_017672 XM_005254486 NA Approved CHAK1, LTRPC7, TRP-PLIK uc001zyt.4 Q96QT4 ENST00000313478.7:c.4986C>T chr15.hg19:g.50867082G>A NA Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2 hg19 CCDS42035.1 0.02 6.613573 TTTxTAA COVERED NOVEL TRPM7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000418604.1 1 6.155762 KEEP 0 1 33 32 1148 GG 0.999998 0.999998 0 - 7 60 262 0 0 16.558629 181 60 6840 261 ENST00000313478.7 0.037234 1 TRPM7 54822 __UNKNOWN__ __UNKNOWN__ 15 50899309 50899309 __UNKNOWN__ Intron SNP C C A rs11633404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:50899309C>A ENST00000313478.7 - 20 2991 TRPM7_ENST00000560955.1_Intron NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 NA NA actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) ACACACACACCCCCCTACGTA 0.353 NA A||| 2481 0.495407 0.5522 0.5519 5008 , , NA 17117 0.501 NA 0.4652 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF346629 CCDS42035.1, CCDS73725.1 15q21 2011-12-14 ENSG00000092439 54822 Voltage-gated ion channels / Transient receptor potential cation channels 17994 protein-coding gene gene with protein product 605692 NA 11161216, 11385574, 16382100 Standard NM_017672 XM_005254486 NA Approved CHAK1, LTRPC7, TRP-PLIK uc001zyt.4 Q96QT4 ENST00000313478.7:c.2709+87G>T chr15.hg19:g.50899309C>A NA Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2 hg19 CCDS42035.1 0.02 2.016241 CACxCCC COVERED NOVEL TRPM7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000418604.1 1 4.93487 KEEP 0 1 30 27 922 CC 0.999997 0.999765 0 - 7 60 255 0 0 18.234467 81 60 2935 150 ENST00000313478.7 0.079545 0.999768 SPPL2A 84888 __UNKNOWN__ __UNKNOWN__ 15 51057868 51057868 __UNKNOWN__ 5'UTR SNP C C A rs3896609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51057868C>A ENST00000261854.5 - 0 137 NM_032802.3 NP_116191.2 Q8TCT8 SPP2A_HUMAN signal peptide peptidase like 2A NA NA membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776) extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803) endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) ACGACTGGACCGCCGCTGCTA 0.756 NA C||| 913 0.182308 0.0121 0.1744 5008 , , NA 8112 0.4931 NA 0.1829 False NA ,,, NA NA NA 2504 0.0971 NA NA NA Melanoma(50;790 1209 4069 22965 33125) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS10138.1 15q21.2 2012-02-21 ENSG00000138600 ENSG00000138600 84888 30227 protein-coding gene gene with protein product intramembrane protease 3, presenilin-like protein 2 608238 NA 12077416, 12139484 Standard NM_032802 NM_032802 NA Approved IMP3, PSL2 uc001zyv.3 Q8TCT8 OTTHUMG00000131647 ENST00000261854.5:c.-138G>T chr15.hg19:g.51057868C>A NA B2RDS0|Q8TAW1|Q96SZ8 hg19 CCDS10138.1 0.02 4.04894 GACxGCC COVERED NOVEL SPPL2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254543.3 1 21.96523 KEEP 0 0 0 73 2417 CC 1 1 0 - 6 60 183 0 0 10.4819 134 60 4660 284 ENST00000261854.5 0.042857 1 GLDN 342035 __UNKNOWN__ __UNKNOWN__ 15 51689772 51689772 __UNKNOWN__ Missense_Mutation SNP G G A rs17648128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51689772G>A ENST00000335449.6 + 6 850 c.794G>A c.(793-795)aGc>aAc p.S265N GLDN_ENST00000396399.2_Missense_Mutation_p.S141N NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 265 NA S -> N (in dbSNP:rs17648128). {ECO:0000269|PubMed:12975309}. clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) CGGCAGCCAAGCATGTTCAAC 0.637 NA A||| 1499 0.299321 0.2209 0.183 5008 , , NA 13709 0.495 NA 0.3181 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 A ASN/SER 1023,3369 697.4+/-406.2 115,793,1288 34 43 40 794 4.1 1 15 dbSNP_123 40 2870,5716 655.6+/-401.3 481,1908,1904 yes missense GLDN NM_181789.2 46 596,2701,3192 AA,AG,GG 33.4265,23.2923,29.9969 benign 265/552 51689772 3893,9085 2196 4293 6489 SO:0001583 missense AY358144 CCDS10140.2 15q15.3 2008-02-05 2005-10-06 2005-10-06 ENSG00000186417 ENSG00000186417 342035 29514 protein-coding gene gene with protein product 608603 collomin COLM NA 16039564, 12642876 Standard NM_181789 XM_005254338 NA Approved CRG-L2, CLOM, colmedin, UNC-112 uc002aba.3 Q6ZMI3 OTTHUMG00000131746 ENST00000335449.6:c.794G>A chr15.hg19:g.51689772G>A ENSP00000335196:p.Ser265Asn NA Q6UXZ7|Q7Z359 hg19 CCDS10140.2 0.02 4.045248 CAAxCAT COVERED 747 0.34203296703296704 104 0.21138211382113822 78 0.2154696132596685 308 0.5384615384615384 257 0.3390501319261214 A 4.124 0.021191 0.08006 0.232923 0.334265 ENSG00000186417 ENST00000335449;ENST00000396399;ENST00000537339 D;D 0.93488 -3.23;-3.23 5.17 4.05 0.47172 . 0.000000 0.44688 N 0.000433 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.33599 -0.9862 9 0.07644 T 0.81 . 8.5264 0.33307 0.8425:0.0:0.1575:0.0 rs17648128;rs52807767;rs56468086;rs17648128 265 Q6ZMI3 GLDN_HUMAN N 265;141;141 ENSP00000335196:S265N;ENSP00000379681:S141N ENSP00000335196:S265N S + 2 0 GLDN 49477064 0.994000 0.37717 0.988000 0.46212 0.968000 0.65278 2.382000 0.44345 0.812000 0.34326 -0.269000 0.10298 AGC NOVEL GLDN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254667.2 1 15.047795 KEEP 0 0 0 50 1777 GG 1 1 0 + 11 60 377 0 0 26.638806 118 60 4382 233 ENST00000335449.6 0.085271 1 GLDN 342035 __UNKNOWN__ __UNKNOWN__ 15 51698525 51698525 __UNKNOWN__ 3'UTR SNP G G A rs898135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51698525G>A ENST00000335449.6 + 0 3286 GLDN_ENST00000396399.2_3'UTR NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin NA NA clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GGGCCACTGCGAATAGAGAGG 0.478 NA G||| 1372 0.273962 0.2042 0.1542 5008 , , NA 17216 0.4653 NA 0.2853 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY358144 CCDS10140.2 15q15.3 2008-02-05 2005-10-06 2005-10-06 ENSG00000186417 ENSG00000186417 342035 29514 protein-coding gene gene with protein product 608603 collomin COLM NA 16039564, 12642876 Standard NM_181789 XM_005254338 NA Approved CRG-L2, CLOM, colmedin, UNC-112 uc002aba.3 Q6ZMI3 OTTHUMG00000131746 ENST00000335449.6:c.*1574G>A chr15.hg19:g.51698525G>A NA Q6UXZ7|Q7Z359 hg19 CCDS10140.2 0.02 4.167105 TGCxAAT COVERED NOVEL GLDN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254667.2 0 8.727843 KEEP 0 0 0 29 994 GG 0.999997 0.999994 0 + 8 60 292 0 0 20.408804 107 60 3762 165 ENST00000335449.6 0.069565 0.999997 GLDN 342035 __UNKNOWN__ __UNKNOWN__ 15 51698867 51698867 __UNKNOWN__ 3'UTR SNP T T C rs898134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51698867T>C ENST00000335449.6 + 0 3628 GLDN_ENST00000396399.2_3'UTR NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin NA NA clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TTAGGGGATATACAGATTTAA 0.408 NA T||| 1307 0.260982 0.2005 0.1484 5008 , , NA 15033 0.4196 NA 0.2853 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY358144 CCDS10140.2 15q15.3 2008-02-05 2005-10-06 2005-10-06 ENSG00000186417 ENSG00000186417 342035 29514 protein-coding gene gene with protein product 608603 collomin COLM NA 16039564, 12642876 Standard NM_181789 XM_005254338 NA Approved CRG-L2, CLOM, colmedin, UNC-112 uc002aba.3 Q6ZMI3 OTTHUMG00000131746 ENST00000335449.6:c.*1916T>C chr15.hg19:g.51698867T>C NA Q6UXZ7|Q7Z359 hg19 CCDS10140.2 0.02 1.94754 ATAxACA COVERED NOVEL GLDN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254667.2 1 7.218167 KEEP 0 0 0 24 691 TT 0.999909 0.997807 0 + 5 60 185 0 0 12.970238 68 60 2489 111 ENST00000335449.6 0.068493 0.997898 DMXL2 23312 __UNKNOWN__ __UNKNOWN__ 15 51750846 51750846 __UNKNOWN__ Intron SNP G G A rs7165887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51750846G>A ENST00000543779.2 - 35 8103 RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000251076.5_Intron|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron Q8TDJ6 DMXL2_HUMAN Dmx-like 2 NA NA cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021) Rab GTPase binding (GO:0017137) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AGGCAGAATCGATGATTTAAG 0.338 NA A||| 2071 0.413538 0.3313 0.4784 5008 , , NA 21669 0.3968 NA 0.504 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 A ,, 1588,2804 663.9+/-401.3 277,1034,885 110 103 105 ,, 3 0 15 dbSNP_116 105 4266,4320 577.7+/-390.6 1064,2138,1091 no intron,intron,intron DMXL2 NM_001174116.1,NM_001174117.1,NM_015263.3 ,, 1341,3172,1976 AA,AG,GG 49.6855,36.1566,45.1071 ,, ,, 51750846 5854,7124 2196 4293 6489 SO:0001627 intron_variant AB020663 CCDS10141.1, CCDS53945.1, CCDS53946.1 15q21.2 2013-01-10 ENSG00000104093 ENSG00000104093 23312 WD repeat domain containing 2938 protein-coding gene gene with protein product rabconnectin 3 612186 NA Standard NM_015263 NM_001174116 NA Approved RC3, KIAA0856 uc010ufy.2 Q8TDJ6 OTTHUMG00000131749 ENST00000543779.2:c.8014-22C>T chr15.hg19:g.51750846G>A NA B2RTR3|B7ZMH3|F5GWF1|O94938 hg19 CCDS53946.1 0.02 8.336617 ATCxATG COVERED NOVEL DMXL2-014 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419004.1 0 8.726394 KEEP 0 0 0 29 958 GG 0.999997 0.999997 0 - 10 60 367 1 0 23.619048 220 60 7477 295 ENST00000543779.2 0.043478 1 DMXL2 23312 __UNKNOWN__ __UNKNOWN__ 15 51783820 51783820 __UNKNOWN__ Silent SNP T T C rs10851500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51783820T>C ENST00000543779.2 - 20 4997 c.4908A>G c.(4906-4908)ggA>ggG p.G1636G DMXL2_ENST00000251076.5_Silent_p.G1636G|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.G1000G Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1636 NA cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021) Rab GTPase binding (GO:0017137) p.G1636G(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCACCCACCATCCTATGCCCA 0.398 NA C||| 2229 0.445088 0.4259 0.4942 5008 , , NA 17100 0.4038 NA 0.5169 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C ,, 2013,2377 612.4+/-392.0 466,1081,648 119 121 120 4908,3000,4908 -8.5 0.1 15 dbSNP_120 120 4339,4247 572.8+/-389.8 1107,2125,1061 no coding-synonymous,coding-synonymous,coding-synonymous DMXL2 NM_001174116.1,NM_001174117.1,NM_015263.3 ,, 1573,3206,1709 CC,CT,TT 49.4642,45.8542,48.9519 ,, 1636/3038,1000/2401,1636/3037 51783820 6352,6624 2195 4293 6488 SO:0001819 synonymous_variant AB020663 CCDS10141.1, CCDS53945.1, CCDS53946.1 15q21.2 2013-01-10 ENSG00000104093 ENSG00000104093 23312 WD repeat domain containing 2938 protein-coding gene gene with protein product rabconnectin 3 612186 NA Standard NM_015263 NM_001174116 NA Approved RC3, KIAA0856 uc010ufy.2 Q8TDJ6 OTTHUMG00000131749 ENST00000543779.2:c.4908A>G chr15.hg19:g.51783820T>C NA B2RTR3|B7ZMH3|F5GWF1|O94938 hg19 CCDS53946.1 0.02 18.586722 CCAxCCT COVERED NOVEL DMXL2-014 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419004.1 0 18.353973 KEEP 0 0 0 61 1913 TT 1 1 0 - 17 60 624 0 0 39.360704 418 60 15378 622 ENST00000543779.2 0.03908 1 DMXL2 23312 __UNKNOWN__ __UNKNOWN__ 15 51791559 51791559 __UNKNOWN__ Missense_Mutation SNP A A G rs12102203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51791559A>G ENST00000543779.2 - 18 3951 c.3862T>C c.(3862-3864)Tct>Cct p.S1288P DMXL2_ENST00000251076.5_Missense_Mutation_p.S1288P|DMXL2_ENST00000449909.3_Intron Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1288 NA S -> P (in dbSNP:rs12102203). {ECO:0000269|PubMed:10048485, ECO:0000269|PubMed:15489334}. cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021) Rab GTPase binding (GO:0017137) p.S1288P(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TCTGCATTAGAACTATCAGCT 0.398 NA G||| 2190 0.4373 0.3941 0.4914 5008 , , NA 24831 0.4087 NA 0.5149 False NA ,,, NA NA NA 2504 0.407 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G PRO/SER,,PRO/SER 1902,2486 616.4+/-392.8 414,1074,706 166 164 165 3862,,3862 1.7 0.7 15 dbSNP_120 165 4332,4254 570.7+/-389.4 1106,2120,1067 yes missense,intron,missense DMXL2 NM_001174116.1,NM_001174117.1,NM_015263.3 74,,74 1520,3194,1773 GG,GA,AA 49.5458,43.3455,48.0499 benign,,benign 1288/3038,,1288/3037 51791559 6234,6740 2194 4293 6487 SO:0001583 missense AB020663 CCDS10141.1, CCDS53945.1, CCDS53946.1 15q21.2 2013-01-10 ENSG00000104093 ENSG00000104093 23312 WD repeat domain containing 2938 protein-coding gene gene with protein product rabconnectin 3 612186 NA Standard NM_015263 NM_001174116 NA Approved RC3, KIAA0856 uc010ufy.2 Q8TDJ6 OTTHUMG00000131749 ENST00000543779.2:c.3862T>C chr15.hg19:g.51791559A>G ENSP00000441858:p.Ser1288Pro NA B2RTR3|B7ZMH3|F5GWF1|O94938 hg19 CCDS53946.1 0.02 19.79304 TAGxACT COVERED 1039 0.4757326007326007 210 0.4268292682926829 174 0.48066298342541436 260 0.45454545454545453 395 0.521108179419525 G 0.413 -0.912045 0.02415 0.433455 0.504542 ENSG00000104093 ENST00000251076;ENST00000543779 T;T 0.21932 1.98;1.98 5.66 1.7 0.24286 . 0.673581 0.16046 N 0.232187 T 0.00012 0.0000 L 0.27053 0.805 0.54753 P 1.0999999999983245E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.44128 -0.9348 9 0.35671 T 0.21 . 9.3262 0.37995 0.5114:0.0:0.4885:0.0 rs12102203;rs17609478;rs52792675;rs56869598;rs12102203 1288;1288 F5GWF1;Q8TDJ6 .;DMXL2_HUMAN P 1288 ENSP00000251076:S1288P;ENSP00000441858:S1288P ENSP00000251076:S1288P S - 1 0 DMXL2 49578851 0.605000 0.26941 0.679000 0.29978 0.067000 0.16453 0.251000 0.18257 0.088000 0.17205 -0.186000 0.12905 TCT NOVEL DMXL2-014 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419004.1 3 19.256323 KEEP 0 0 0 64 2028 AA 1 1 0 - 20 60 695 0 0 42.916007 470 60 16930 647 ENST00000543779.2 0.040816 1 DMXL2 23312 __UNKNOWN__ __UNKNOWN__ 15 51791561 51791561 __UNKNOWN__ Missense_Mutation SNP C C A rs199599606|rs78240149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51791561C>A ENST00000543779.2 - 18 3949 c.3860G>T c.(3859-3861)aGt>aTt p.S1287I DMXL2_ENST00000251076.5_Missense_Mutation_p.S1287I|DMXL2_ENST00000449909.3_Intron Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1287 NA cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021) Rab GTPase binding (GO:0017137) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGCATTAGAACTATCAGCTTC 0.398 NA C||| 52 0.0103834 0.0 0.0 5008 , , NA 24835 0.0466 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 169 166 167 NA NA 15 NA 51791561 2194 4293 6487 SO:0001583 missense AB020663 CCDS10141.1, CCDS53945.1, CCDS53946.1 15q21.2 2013-01-10 ENSG00000104093 ENSG00000104093 23312 WD repeat domain containing 2938 protein-coding gene gene with protein product rabconnectin 3 612186 NA Standard NM_015263 NM_001174116 NA Approved RC3, KIAA0856 uc010ufy.2 Q8TDJ6 OTTHUMG00000131749 ENST00000543779.2:c.3860G>T chr15.hg19:g.51791561C>A ENSP00000441858:p.Ser1287Ile NA B2RTR3|B7ZMH3|F5GWF1|O94938 hg19 CCDS53946.1 0.02 18.678247 GAAxTAT COVERED . . . . . . . . . . C 1.960 -0.439062 0.04636 . . ENSG00000104093 ENST00000251076;ENST00000543779 T;T 0.22336 1.96;1.96 5.66 4.69 0.59074 . 0.565396 0.21375 N 0.075562 T 0.20659 0.0497 L 0.50333 1.59 0.22737 N 0.998798 B;B 0.23540 0.087;0.052 B;B 0.21151 0.033;0.013 T 0.07888 -1.0749 10 0.44086 T 0.13 . 12.2665 0.54681 0.1306:0.7424:0.127:0.0 . 1287;1287 F5GWF1;Q8TDJ6 .;DMXL2_HUMAN I 1287 ENSP00000251076:S1287I;ENSP00000441858:S1287I ENSP00000251076:S1287I S - 2 0 DMXL2 49578853 0.904000 0.30761 0.946000 0.38457 0.075000 0.17131 1.580000 0.36547 2.669000 0.90835 0.591000 0.81541 AGT NOVEL DMXL2-014 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419004.1 3 18.359716 KEEP 0 0 0 61 2177 CC 1 1 0 - 13 60 469 0 0 27.040629 479 60 18066 649 ENST00000543779.2 0.026423 1 DMXL2 23312 __UNKNOWN__ __UNKNOWN__ 15 51914716 51914716 __UNKNOWN__ Silent SNP T T C rs2278989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:51914716T>C ENST00000543779.2 - 1 116 c.27A>G c.(25-27)ggA>ggG p.G9G DMXL2_ENST00000251076.5_Silent_p.G9G|DMXL2_ENST00000449909.3_Silent_p.G9G Q8TDJ6 DMXL2_HUMAN Dmx-like 2 9 NA cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021) Rab GTPase binding (GO:0017137) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GGTTGACAGCTCCGGTGAGGA 0.677 NA C||| 2064 0.412141 0.3623 0.4856 5008 , , NA 15610 0.3333 NA 0.5169 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 C ,, 1639,2727 326,987,870 29 25 26 27,27,27 2.1 1 15 dbSNP_100 26 4201,4327 1103,1995,1166 no coding-synonymous,coding-synonymous,coding-synonymous DMXL2 NM_001174116.1,NM_001174117.1,NM_015263.3 ,, 1429,2982,2036 CC,CT,TT 49.2613,37.5401,45.2924 ,, 9/3038,9/2401,9/3037 51914716 5840,7054 2183 4264 6447 SO:0001819 synonymous_variant AB020663 CCDS10141.1, CCDS53945.1, CCDS53946.1 15q21.2 2013-01-10 ENSG00000104093 ENSG00000104093 23312 WD repeat domain containing 2938 protein-coding gene gene with protein product rabconnectin 3 612186 NA Standard NM_015263 NM_001174116 NA Approved RC3, KIAA0856 uc010ufy.2 Q8TDJ6 OTTHUMG00000131749 ENST00000543779.2:c.27A>G chr15.hg19:g.51914716T>C NA B2RTR3|B7ZMH3|F5GWF1|O94938 hg19 CCDS53946.1 0.02 6.509426 AGCxCCG COVERED NOVEL DMXL2-014 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419004.1 3 24.007052 KEEP 0 0 0 80 2473 TT 1 1 0 - 8 60 267 0 0 16.924265 158 60 5681 330 ENST00000543779.2 0.048193 1 SCG3 29106 __UNKNOWN__ __UNKNOWN__ 15 52013148 52013148 __UNKNOWN__ 3'UTR SNP A A G rs1133882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:52013148A>G ENST00000220478.3 + 0 3235 NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III NA NA blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774) poly(A) RNA binding (GO:0044822) breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) agccagcagcagcaacctgtt 0.488 NA G||| 2379 0.47504 0.503 0.562 5008 , , NA 18683 0.5079 NA 0.4662 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF078851 CCDS10142.1, CCDS53947.1 15q21.2 2013-09-23 ENSG00000104112 ENSG00000104112 29106 13707 protein-coding gene gene with protein product 611796 NA 2053134, 8825061 Standard NM_013243 NM_013243 NA Approved SGIII, FLJ90833 uc002abh.3 Q8WXD2 OTTHUMG00000131748 ENST00000220478.3:c.*1425A>G chr15.hg19:g.52013148A>G NA A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7 hg19 CCDS10142.1 0.02 2.276839 AGCxGCA COVERED NOVEL SCG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254670.2 2 15.04185 KEEP 0 0 0 50 1539 AA 1 0.999317 0 + 6 60 218 0 0 15.377234 75 60 2750 164 ENST00000220478.3 0.074074 0.999317 BCL2L10 10017 __UNKNOWN__ __UNKNOWN__ 15 52404862 52404862 __UNKNOWN__ Missense_Mutation SNP A A C rs2231292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:52404862A>C ENST00000561198.1 - 1 103 c.62T>G c.(61-63)cTg>cGg p.L21R BCL2L10_ENST00000260442.3_Missense_Mutation_p.L21R Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 11 NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) GGCCAGCAACAGCTCGGTGCG 0.751 NA C||| 2687 0.536542 0.8684 0.5101 5008 , , NA 8195 0.4236 NA 0.3231 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 C ARG/LEU 2074,1256 679,716,270 2 4 3 62 -5.2 0 15 dbSNP_98 3 1959,5281 356,1247,2017 no missense BCL2L10 NM_020396.2 102 1035,1963,2287 CC,CA,AA 27.058,37.7177,38.1552 benign 21/205 52404862 4033,6537 1665 3620 5285 SO:0001583 missense AF285092 CCDS10148.1 15q21 2007-03-02 ENSG00000137875 ENSG00000137875 10017 993 protein-coding gene gene with protein product 606910 NA 9829980, 9878060 Standard NM_020396 NA Approved Diva, Boo, BCL-B uc002abq.3 Q9HD36 OTTHUMG00000131893 ENST00000561198.1:c.62T>G chr15.hg19:g.52404862A>C ENSP00000453562:p.Leu21Arg NA Q3SX80|Q52LQ9|Q8TCS9 hg19 0.02 3.801026 AACxGCT COVERED 1078 0.4935897435897436 414 0.8414634146341463 177 0.4889502762430939 236 0.4125874125874126 251 0.3311345646437995 C 0.933 -0.712069 0.03206 0.622823 0.27058 ENSG00000137875 ENST00000260442 T 0.30714 1.52 4.52 -5.24 0.02789 . 1.398830 0.05046 N 0.477300 T 0.00012 0.0000 N 0.01576 -0.805 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30765 -0.9967 9 0.02654 T 1 -3.2824 4.9028 0.13782 0.3456:0.2022:0.0:0.4522 rs2231292;rs3751602;rs60350503;rs2231292 11 Q9HD36 B2L10_HUMAN R 21 ENSP00000260442:L21R ENSP00000260442:L21R L - 2 0 BCL2L10 50192154 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.406000 0.00482 -1.550000 0.01708 -0.947000 0.02670 CTG NOVEL BCL2L10-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000419386.1 0 17.989741 KEEP 0 0 0 60 1800 AA 1 1 0 - 5 60 174 0 0 10.521195 129 60 4728 245 ENST00000561198.1 0.037313 1 GNB5 10681 __UNKNOWN__ __UNKNOWN__ 15 52421000 52421000 __UNKNOWN__ Intron SNP A A G rs2414135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:52421000A>G ENST00000261837.7 - 10 929 CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Intron|GNB5_ENST00000358784.7_Intron|GNB5_ENST00000559348.1_Intron NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 NA NA GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165) nucleus (GO:0005634)|plasma membrane (GO:0005886) chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871) large_intestine(1)|lung(1) 2 all cancers(107;0.0163) aataaatgataattattactG 0.348 NA G||| 1742 0.347843 0.6649 0.232 5008 , , NA 20912 0.254 NA 0.17 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF017656 CCDS10149.1, CCDS45261.1 15q21.1 2013-01-10 ENSG00000069966 ENSG00000069966 10681 WD repeat domain containing 4401 protein-coding gene gene with protein product 604447 NA 9606987 Standard NM_016194 NA Approved GB5 uc031qrz.1 O14775 OTTHUMG00000131892 ENST00000261837.7:c.864-559T>C chr15.hg19:g.52421000A>G NA B2RBR5|Q9HAU9|Q9UFT3 hg19 CCDS10149.1 0.02 1.745779 GATxATT COVERED NOVEL GNB5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254842.1 2 5.715341 KEEP 0 0 0 19 574 AA 0.99986 0.99979 0 - 6 60 216 0 0 14.718563 90 60 3185 131 ENST00000261837.7 0.0625 0.99993 MYO5C 55930 __UNKNOWN__ __UNKNOWN__ 15 52486254 52486254 __UNKNOWN__ Intron SNP G G A rs117839799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:52486254G>A ENST00000261839.7 - 41 5238 RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC NA NA extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AGGAGAGCCTGAAATTAGAAT 0.418 NA G||| 10 0.00199681 0.0 0.0 5008 , , NA 20565 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 64 62 62 NA NA 15 NA 52486254 1854 4097 5951 SO:0001627 intron_variant AF272390 CCDS42036.1 15q21 2011-09-27 ENSG00000128833 55930 Myosins / Myosin superfamily : Class V 7604 protein-coding gene gene with protein product myosin 5C 610022 NA 11870218 Standard NM_018728 NM_018728 NA Approved MGC74969 uc010bff.3 Q9NQX4 ENST00000261839.7:c.5077-3C>T chr15.hg19:g.52486254G>A NA Q6P1W8 hg19 CCDS42036.1 0.02 5.66318 CCTxAAA COVERED NOVEL MYO5C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419562.1 1 7.523897 KEEP 0 0 0 25 850 GG 0.999957 0.999957 0 - 6 60 216 0 0 12.846337 188 60 7013 238 ENST00000261839.7 0.030928 1 MYO5C 55930 __UNKNOWN__ __UNKNOWN__ 15 52517790 52517790 __UNKNOWN__ Intron SNP A A G rs17650476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:52517790A>G ENST00000261839.7 - 26 3369 NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC NA NA extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TTTATATAAGACAAAGGGAAC 0.383 NA A||| 325 0.0648962 0.0234 0.0159 5008 , , NA 23785 0.0952 NA 0.0139 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF272390 CCDS42036.1 15q21 2011-09-27 ENSG00000128833 55930 Myosins / Myosin superfamily : Class V 7604 protein-coding gene gene with protein product myosin 5C 610022 NA 11870218 Standard NM_018728 NM_018728 NA Approved MGC74969 uc010bff.3 Q9NQX4 ENST00000261839.7:c.3208-61T>C chr15.hg19:g.52517790A>G NA Q6P1W8 hg19 CCDS42036.1 0.02 7.045407 AAGxCAA COVERED NOVEL MYO5C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419562.1 0 6.618097 KEEP 0 0 0 22 655 AA 0.999879 0.999879 0 - 8 60 302 1 0 19.950297 165 60 5795 206 ENST00000261839.7 0.046243 1 WDR72 256764 __UNKNOWN__ __UNKNOWN__ 15 53808418 53808418 __UNKNOWN__ 3'UTR SNP T T A rs76317515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:53808418T>A ENST00000396328.1 - 0 5026 WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_3'UTR|WDR72_ENST00000360509.5_3'UTR NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 NA NA NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TAAAATCATATTTTAGGAAAC 0.269 NA T||| 253 0.0505192 0.0877 0.0043 5008 , , NA 18328 0.0764 NA 0.0089 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537884 CCDS10151.1, CCDS73730.1 15q21.3 2013-01-09 ENSG00000166415 ENSG00000166415 256764 WD repeat domain containing 26790 protein-coding gene gene with protein product 613214 NA Standard NM_182758 NM_182758 NA Approved FLJ38736 uc002acj.2 Q3MJ13 OTTHUMG00000131939 ENST00000396328.1:c.*1478A>T chr15.hg19:g.53808418T>A NA Q7Z3I3|Q8N8X2 hg19 CCDS10151.1 0.02 8.639135 ATAxTTT COVERED NOVEL WDR72-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254893.2 2 11.135117 KEEP 0 0 0 37 1228 TT 1 1 0 - 7 60 261 0 0 16.001469 211 60 7718 310 ENST00000396328.1 0.03211 1 WDR72 256764 __UNKNOWN__ __UNKNOWN__ 15 53808751 53808751 __UNKNOWN__ 3'UTR SNP A A C rs74015392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:53808751A>C ENST00000396328.1 - 0 4693 WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000557913.1_3'UTR|WDR72_ENST00000360509.5_3'UTR NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 NA NA NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCTCTTTTCTAATTTCCCCCT 0.368 NA A||| 337 0.0672923 0.1498 0.0043 5008 , , NA 15615 0.0774 NA 0.0089 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX537884 CCDS10151.1, CCDS73730.1 15q21.3 2013-01-09 ENSG00000166415 ENSG00000166415 256764 WD repeat domain containing 26790 protein-coding gene gene with protein product 613214 NA Standard NM_182758 NM_182758 NA Approved FLJ38736 uc002acj.2 Q3MJ13 OTTHUMG00000131939 ENST00000396328.1:c.*1145T>G chr15.hg19:g.53808751A>C NA Q7Z3I3|Q8N8X2 hg19 CCDS10151.1 0.02 4.182472 TCTxATT COVERED NOVEL WDR72-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254893.2 0 2.4071 KEEP 0 0 0 8 245 AA 0.99257 0.99257 0 - 6 60 216 0 0 13.789447 130 60 4655 168 ENST00000396328.1 0.044118 1 WDR72 256764 __UNKNOWN__ __UNKNOWN__ 15 53907948 53907948 __UNKNOWN__ Missense_Mutation SNP G G A rs17730281 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:53907948G>A ENST00000559418.1 - 14 2518 c.2485C>T c.(2485-2487)Ctc>Ttc p.L829F WDR72_ENST00000396328.1_Missense_Mutation_p.L819F|WDR72_ENST00000557913.1_Missense_Mutation_p.L816F|WDR72_ENST00000360509.5_Missense_Mutation_p.L819F Q3MJ13 WDR72_HUMAN WD repeat domain 72 819 NA NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) AAAATATTGAGGTGCTTAATG 0.373 NA G||| 1337 0.266973 0.1248 0.3804 5008 , , NA 18191 0.4851 NA 0.2018 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 G PHE/LEU 692,3694 282.8+/-276.7 56,580,1557 103 105 104 2455 5.7 1 15 dbSNP_123 104 1896,6690 324.5+/-316.5 195,1506,2592 yes missense WDR72 NM_182758.2 22 251,2086,4149 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 22.0825,15.7775,19.9507 probably-damaging 819/1103 53907948 2588,10384 2193 4293 6486 SO:0001583 missense BX537884 CCDS10151.1, CCDS73730.1 15q21.3 2013-01-09 ENSG00000166415 ENSG00000166415 256764 WD repeat domain containing 26790 protein-coding gene gene with protein product 613214 NA Standard NM_182758 NM_182758 NA Approved FLJ38736 uc002acj.2 Q3MJ13 OTTHUMG00000131939 ENST00000559418.1:c.2485C>T chr15.hg19:g.53907948G>A ENSP00000452765:p.Leu829Phe NA Q7Z3I3|Q8N8X2 hg19 0.02 13.848326 TGAxGTG COVERED 611 0.27976190476190477 65 0.13211382113821138 121 0.3342541436464088 276 0.4825174825174825 149 0.19656992084432717 G 18.65 3.669478 0.67814 0.157775 0.220825 ENSG00000166415 ENST00000396328;ENST00000360509 T;T 0.69561 -0.41;-0.41 5.72 5.72 0.89469 . 0.000000 0.64402 D 0.000004 T 0.00012 0.0000 M 0.80616 2.505 0.23168 P 0.99818646 D 0.76494 0.999 D 0.68765 0.96 T 0.51108 -0.8747 9 0.87932 D 0 . 10.4234 0.44363 0.1487:0.0:0.8513:0.0 rs17730281;rs52809867;rs17730281 819 Q3MJ13 WDR72_HUMAN F 819 ENSP00000379619:L819F;ENSP00000353699:L819F ENSP00000353699:L819F L - 1 0 WDR72 51695240 0.991000 0.36638 1.000000 0.80357 0.973000 0.67179 2.006000 0.40874 2.703000 0.92315 0.655000 0.94253 CTC NOVEL WDR72-005 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418739.1 1 10.233451 KEEP 0 0 0 34 1230 GG 0.999998 0.999998 0 - 14 60 530 0 0 34.562652 314 60 11727 410 ENST00000559418.1 0.042683 1 UNC13C 440279 __UNKNOWN__ __UNKNOWN__ 15 54786837 54786837 __UNKNOWN__ Silent SNP C C T rs28537248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:54786837C>T ENST00000260323.11 + 19 4965 c.4965C>T c.(4963-4965)acC>acT p.T1655T UNC13C_ENST00000537900.1_Silent_p.T1653T|UNC13C_ENST00000545554.1_Silent_p.T1655T NM_001080534.1 NP_001074003.1 Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1655 MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}. NA exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCAAGAGCACCGATTATATGA 0.333 NA C||| 126 0.0251597 0.0877 0.0072 5008 , , NA 16271 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 264,3380 8,248,1566 106 99 101 4965 0.1 1 15 dbSNP_125 101 0,8130 0,0,4065 no coding-synonymous UNC13C NM_001080534.1 8,248,5631 TT,TC,CC 0.0,7.2448,2.2422 1655/2215 54786837 264,11510 1822 4065 5887 SO:0001819 synonymous_variant AK091491 CCDS45264.1 15q21.3 2012-10-02 ENSG00000137766 ENSG00000137766 440279 23149 protein-coding gene gene with protein product 614568 NA Standard NM_173166 NM_001080534 NA Approved Munc13-3, DKFZp547H074 uc021smr.1 Q8NB66 OTTHUMG00000172542 ENST00000260323.11:c.4965C>T chr15.hg19:g.54786837C>T NA Q0P613|Q8ND48|Q96NP3 hg19 CCDS45264.1 0.02 4.177121 CACxGAT COVERED NOVEL UNC13C-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000419028.3 0 5.41746 KEEP 0 0 0 18 622 CC 0.999859 0.999859 0 + 5 60 191 0 0 11.99811 143 60 5006 190 ENST00000260323.11 0.033784 1 RSL24D1 51187 __UNKNOWN__ __UNKNOWN__ 15 55473192 55473192 __UNKNOWN__ 3'UTR SNP C C T rs3759861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55473192C>T ENST00000260443.4 - 0 1826 NM_016304.2 NP_057388.1 Q9UHA3 RLP24_HUMAN ribosomal L24 domain containing 1 NA NA ribosome biogenesis (GO:0042254) nucleus (GO:0005634) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 7 GGTCCAGGGACTGGTCTACAG 0.333 NA .||| 1575 0.314497 0.7194 0.1398 5008 , , NA 16022 0.1349 NA 0.1899 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF201949 CCDS10152.1 15q21 2009-02-27 2009-02-27 2009-02-27 ENSG00000137876 ENSG00000137876 51187 18479 protein-coding gene gene with protein product 613262 chromosome 15 open reading frame 15 C15orf15 NA 12808088, 11707418 Standard NM_016304 NM_016304 NA Approved HRP-L30-iso, L30, RPL24L, RPL24 uc002acn.3 Q9UHA3 OTTHUMG00000131957 ENST00000260443.4:c.*1158G>A chr15.hg19:g.55473192C>T NA B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1 hg19 CCDS10152.1 0.02 8.665845 GGAxTGG COVERED NOVEL RSL24D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254916.1 2 13.544749 KEEP 0 0 0 45 1645 CC 1 1 0 - 7 60 253 0 0 15.25542 208 60 7924 342 ENST00000260443.4 0.032558 1 RSL24D1 51187 __UNKNOWN__ __UNKNOWN__ 15 55489065 55489065 __UNKNOWN__ Silent SNP G G A rs9300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55489065G>A ENST00000260443.4 - 1 200 c.24C>T c.(22-24)ttC>ttT p.F8F NM_016304.2 NP_057388.1 Q9UHA3 RLP24_HUMAN ribosomal L24 domain containing 1 8 NA ribosome biogenesis (GO:0042254) nucleus (GO:0005634) p.F8F(1) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 7 GCCCCGAACAGAAATAACACT 0.537 NA OREG0023135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1354 0.270367 0.5492 0.1326 5008 , , NA 19967 0.1379 NA 0.1918 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 2125,2261 578.1+/-384.6 507,1111,575 116 90 99 24 3.5 1 15 dbSNP_52 99 1627,6957 301.4+/-305.4 146,1335,2811 no coding-synonymous RSL24D1 NM_016304.2 653,2446,3386 AA,AG,GG 18.9539,48.4496,28.9283 8/164 55489065 3752,9218 2193 4292 6485 SO:0001819 synonymous_variant AF201949 CCDS10152.1 15q21 2009-02-27 2009-02-27 2009-02-27 ENSG00000137876 ENSG00000137876 51187 18479 protein-coding gene gene with protein product 613262 chromosome 15 open reading frame 15 C15orf15 NA 12808088, 11707418 Standard NM_016304 NM_016304 NA Approved HRP-L30-iso, L30, RPL24L, RPL24 uc002acn.3 Q9UHA3 OTTHUMG00000131957 ENST00000260443.4:c.24C>T chr15.hg19:g.55489065G>A 1008 B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1 hg19 CCDS10152.1 0.02 26.211872 ACAxAAA COVERED NOVEL RSL24D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254916.1 4 81.562704 KEEP 0 0 0 271 9640 GG 1 1 0 - 17 60 636 1 0 37.753097 615 60 23254 1137 ENST00000260443.4 0.026899 1 RSL24D1 51187 __UNKNOWN__ __UNKNOWN__ 15 55489104 55489104 __UNKNOWN__ 5'UTR SNP A A G rs13733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55489104A>G ENST00000260443.4 - 0 161 NM_016304.2 NP_057388.1 Q9UHA3 RLP24_HUMAN ribosomal L24 domain containing 1 NA NA ribosome biogenesis (GO:0042254) nucleus (GO:0005634) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 7 ACCCGCGTGTAACCCCACCAA 0.532 NA OREG0023135 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1352 0.269968 0.5477 0.1326 5008 , , NA 20121 0.1379 NA 0.1918 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 G 2126,2260 595.0+/-388.3 507,1112,574 89 72 78 1 0 15 dbSNP_52 78 1627,6957 740.3+/-407.1 146,1335,2811 no utr-5 RSL24D1 NM_016304.2 653,2447,3385 GG,GA,AA 18.9539,48.4724,28.936 55489104 3753,9217 2193 4292 6485 SO:0001623 5_prime_UTR_variant AF201949 CCDS10152.1 15q21 2009-02-27 2009-02-27 2009-02-27 ENSG00000137876 ENSG00000137876 51187 18479 protein-coding gene gene with protein product 613262 chromosome 15 open reading frame 15 C15orf15 NA 12808088, 11707418 Standard NM_016304 NM_016304 NA Approved HRP-L30-iso, L30, RPL24L, RPL24 uc002acn.3 Q9UHA3 OTTHUMG00000131957 ENST00000260443.4:c.-16T>C chr15.hg19:g.55489104A>G 1008 B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1 hg19 CCDS10152.1 0.02 34.58898 TGTxACC COVERED NOVEL RSL24D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254916.1 8 90.588871 KEEP 0 1 10 305 9070 AA 1 1 0 - 20 60 725 0 0 41.291938 815 60 28164 1430 ENST00000260443.4 0.023952 1 RAB27A 5873 __UNKNOWN__ __UNKNOWN__ 15 55497691 55497691 __UNKNOWN__ 3'UTR SNP G G A rs1050931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55497691G>A ENST00000396307.2 - 0 931 RAB27A_ENST00000569493.1_3'UTR|RAB27A_ENST00000336787.1_3'UTR|RAB27A_ENST00000564609.1_3'UTR NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family NA NA antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489) apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) CTACTATGTCGCTTACTTGAC 0.458 NA G||| 1326 0.264776 0.5393 0.1311 5008 , , NA 18619 0.129 NA 0.1879 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 G ,,, 2098,2288 575.0+/-383.9 495,1108,590 252 231 238 ,,, 2.9 0 15 dbSNP_86 238 1595,6989 297.4+/-303.4 140,1315,2837 no utr-3,utr-3,utr-3,utr-3 RAB27A NM_004580.4,NM_183234.2,NM_183235.2,NM_183236.2 ,,, 635,2423,3427 AA,AG,GG 18.5811,47.834,28.4734 ,,, ,,, 55497691 3693,9277 2193 4292 6485 SO:0001624 3_prime_UTR_variant U38654 CCDS10153.1 15q15-q21.1 2014-09-17 ENSG00000069974 ENSG00000069974 5873 RAB, member RAS oncogene 9766 protein-coding gene gene with protein product 603868 NA 7592656 Standard NM_004580, NM_183236 NM_183235 NA Approved RAB27, RAM, GS2, HsT18676 uc002acq.3 P51159 OTTHUMG00000131959 ENST00000396307.2:c.*14C>T chr15.hg19:g.55497691G>A NA O00195|Q6FI40|Q9UIR9|Q9Y5U3 hg19 CCDS10153.1 0.02 4.161801 GTCxCTT COVERED NOVEL RAB27A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254918.1 2 6.61943 KEEP 0 0 0 22 704 GG 0.999879 0.999878 0 - 5 60 180 0 0 11.238297 122 60 4067 155 ENST00000396307.2 0.03937 1 PIGB 9488 __UNKNOWN__ __UNKNOWN__ 15 55611433 55611433 __UNKNOWN__ 3'UTR SNP A A G rs28668016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55611433A>G ENST00000569909.1 + 0 4 PIGB_ENST00000539642.1_5'UTR|PIGB_ENST00000164305.5_5'UTR Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) mannosyltransferase activity (GO:0000030) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) CCGCCTTAGGAAGGTGGCGGC 0.612 NA A||| 1633 0.326078 0.2844 0.255 5008 , , NA 16596 0.5655 NA 0.1879 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 A 937,2953 121,695,1129 16 19 18 -4.1 0 15 dbSNP_125 18 1433,6841 143,1147,2847 no utr-5 PIGB NM_004855.4 264,1842,3976 GG,GA,AA 17.3193,24.0874,19.4837 55611433 2370,9794 1945 4137 6082 SO:0001624 3_prime_UTR_variant D42138 CCDS61641.1 15q21.3 2013-02-26 2006-06-28 ENSG00000069943 ENSG00000069943 9488 Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis 8959 protein-coding gene gene with protein product GPI mannosyltransferase 3, dol-P-Man dependent GPI mannosyltransferase 604122 phosphatidylinositol glycan, class B NA 8861954 Standard NM_004855 NM_004855 NA Approved uc002act.3 Q92521 OTTHUMG00000172654 ENST00000569909.1:c.*1A>G chr15.hg19:g.55611433A>G NA Q53FF9|Q8WVN7 hg19 0.02 4.089126 AGGxAGG COVERED NOVEL PIGB-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000419688.1 1 9.627516 KEEP 0 0 0 32 999 AA 0.999997 0.999997 0 + 6 60 216 0 0 14.036213 118 60 4211 175 ENST00000569909.1 0.048387 0.999999 PIGB 9488 __UNKNOWN__ __UNKNOWN__ 15 55619796 55619796 __UNKNOWN__ Missense_Mutation SNP T T C rs2290344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55619796T>C ENST00000164305.5 + 4 776 c.485T>C c.(484-486)aTg>aCg p.M162T PIGB_ENST00000539642.1_Intron NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 162 NA M -> T (in dbSNP:rs2290344). C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) mannosyltransferase activity (GO:0000030) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) TACTCATTAATGAAGCAACTA 0.388 NA T||| 1152 0.230032 0.0189 0.2118 5008 , , NA 15519 0.5635 NA 0.1203 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 T THR/MET 144,3558 1,142,1708 93 87 89 485 3.2 1 15 dbSNP_100 89 889,7313 59,771,3271 yes missense PIGB NM_004855.4 81 60,913,4979 CC,CT,TT 10.8388,3.8898,8.6778 benign 162/555 55619796 1033,10871 1851 4101 5952 SO:0001583 missense D42138 CCDS61641.1 15q21.3 2013-02-26 2006-06-28 ENSG00000069943 ENSG00000069943 9488 Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis 8959 protein-coding gene gene with protein product GPI mannosyltransferase 3, dol-P-Man dependent GPI mannosyltransferase 604122 phosphatidylinositol glycan, class B NA 8861954 Standard NM_004855 NM_004855 NA Approved uc002act.3 Q92521 OTTHUMG00000172654 ENST00000164305.5:c.485T>C chr15.hg19:g.55619796T>C ENSP00000164305:p.Met162Thr NA Q53FF9|Q8WVN7 hg19 0.02 6.122449 TAAxGAA COVERED 454 0.2078754578754579 8 0.016260162601626018 73 0.20165745856353592 292 0.5104895104895105 81 0.10686015831134564 T 10.78 1.446235 0.25987 0.038898 0.108388 ENSG00000069943 ENST00000164305 T 0.63580 -0.05 5.57 3.23 0.37069 . 0.408765 0.30392 N 0.009732 T 0.00012 0.0000 N 0.00237 -1.79 0.09310 P 0.9999999999999959 B 0.02656 0.0 B 0.06405 0.002 T 0.44513 -0.9323 9 0.23302 T 0.38 -6.9731 8.8825 0.35382 0.0:0.1556:0.0:0.8444 rs2290344;rs52791382;rs59002340;rs2290344 162 Q92521 PIGB_HUMAN T 162 ENSP00000164305:M162T ENSP00000164305:M162T M + 2 0 PIGB 53407088 1.000000 0.71417 0.997000 0.53966 0.998000 0.95712 2.727000 0.47311 0.912000 0.36772 0.533000 0.62120 ATG NOVEL PIGB-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000419687.1 2 9.026264 KEEP 0 0 0 30 923 TT 0.999997 0.999997 0 + 8 60 282 0 0 18.388453 145 60 5399 219 ENST00000164305.5 0.052288 1 PIGB 9488 __UNKNOWN__ __UNKNOWN__ 15 55621889 55621889 __UNKNOWN__ Intron SNP T T C rs28459661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55621889T>C ENST00000164305.5 + 5 813 PIGB_ENST00000539642.1_Intron NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) mannosyltransferase activity (GO:0000030) endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) CCATTTCCAATTTCATATATG 0.338 NA C||| 3046 0.608227 0.8933 0.4121 5008 , , NA 17492 0.7619 NA 0.3579 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 C 2840,806 1112,616,95 137 132 134 -0.7 0 15 dbSNP_125 134 2747,5395 472,1803,1796 no intron PIGB NM_004855.4 1584,2419,1891 CC,CT,TT 33.7386,22.1064,47.3957 55621889 5587,6201 1823 4071 5894 SO:0001627 intron_variant D42138 CCDS61641.1 15q21.3 2013-02-26 2006-06-28 ENSG00000069943 ENSG00000069943 9488 Dolichyl D-mannosyl phosphate dependent mannosyltransferases, Phosphatidylinositol glycan anchor biosynthesis 8959 protein-coding gene gene with protein product GPI mannosyltransferase 3, dol-P-Man dependent GPI mannosyltransferase 604122 phosphatidylinositol glycan, class B NA 8861954 Standard NM_004855 NM_004855 NA Approved uc002act.3 Q92521 OTTHUMG00000172654 ENST00000164305.5:c.523-33T>C chr15.hg19:g.55621889T>C NA Q53FF9|Q8WVN7 hg19 0.02 6.581026 CAAxTTC COVERED NOVEL PIGB-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000419687.1 0 7.218402 KEEP 0 0 0 24 688 TT 0.999909 0.999909 0 + 9 60 337 0 0 22.757036 159 60 5824 211 ENST00000164305.5 0.053571 1 DYX1C1 161582 __UNKNOWN__ __UNKNOWN__ 15 55759193 55759193 __UNKNOWN__ Missense_Mutation SNP T T C rs600753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55759193T>C ENST00000321149.3 - 5 939 c.572A>G c.(571-573)gAa>gGa p.E191G DYX1C1_ENST00000448430.2_Missense_Mutation_p.E191G|DYX1C1_ENST00000457155.2_Missense_Mutation_p.E191G|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.E191G|DYX1C1_ENST00000380679.1_Missense_Mutation_p.E191G NM_130810.3 NP_570722.2 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 191 NA E -> G (in dbSNP:rs600753). {ECO:0000269|PubMed:12954984, ECO:0000269|PubMed:15489334}. cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) estrogen receptor binding (GO:0030331) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) tttttttctttcttctttaat 0.299 NA T||| 2646 0.528355 0.2806 0.6715 5008 , , NA 13485 0.746 NA 0.501 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 T GLY/GLU,GLY/GLU,GLY/GLU 1360,2968 219,922,1023 29 28 29 572,572,572 2.5 0.8 15 dbSNP_83 29 4448,4088 1200,2048,1020 yes missense,missense,missense DYX1C1 NM_001033559.2,NM_001033560.1,NM_130810.3 98,98,98 1419,2970,2043 CC,CT,TT 47.8913,31.4233,45.1493 possibly-damaging,possibly-damaging,possibly-damaging 191/377,191/382,191/421 55759193 5808,7056 2164 4268 6432 SO:0001583 missense CCDS10154.1, CCDS32243.1, CCDS32244.1 15q21.3 2014-09-11 ENSG00000256061 ENSG00000256061 161582 Tetratricopeptide (TTC) repeat domain containing 21493 protein-coding gene gene with protein product 608706 NA 12954984 Standard NM_130810 NM_130810 NA Approved EKN1, FLJ37882, CILD25 uc002adc.3 Q8WXU2 OTTHUMG00000132008 ENST00000321149.3:c.572A>G chr15.hg19:g.55759193T>C ENSP00000323275:p.Glu191Gly NA Q6P5Y9|Q8N1S6 hg19 CCDS10154.1 0.02 3.9829 CTTxCTT COVERED 1161 0.5315934065934066 144 0.2926829268292683 233 0.643646408839779 406 0.7097902097902098 378 0.49868073878627966 T 11.06 1.527805 0.27299 0.314233 0.521087 ENSG00000256061 ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518 T;T;T;T;T 0.49432 2.58;2.58;0.78;3.25;0.78 2.47 2.47 0.30058 . 0.942418 0.08791 N 0.893192 T 0.00012 0.0000 N 0.14661 0.345 0.35594 P 0.19267500000000004 B;B;B 0.21821 0.061;0.041;0.021 B;B;B 0.26094 0.066;0.02;0.016 T 0.42207 -0.9465 9 0.45353 T 0.12 . 6.8751 0.24143 0.0:0.0:0.0:1.0 rs600753;rs17855757;rs52829955;rs59372631;rs600753 191;191;191 Q8WXU2-3;Q8WXU2;Q8WXU2-2 .;DYXC1_HUMAN;. G 191 ENSP00000403412:E191G;ENSP00000370054:E191G;ENSP00000402640:E191G;ENSP00000323275:E191G;ENSP00000299561:E191G ENSP00000323275:E191G E - 2 0 DYX1C1 53546485 0.896000 0.30565 0.817000 0.32601 0.787000 0.44495 2.440000 0.44855 1.368000 0.46115 0.460000 0.39030 GAA NOVEL DYX1C1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254976.1 0 5.715635 KEEP 0 0 0 19 566 TT 0.99986 0.99986 0 - 7 60 250 0 0 16.365586 129 60 4599 156 ENST00000321149.3 0.051471 1 PRTG 283659 __UNKNOWN__ __UNKNOWN__ 15 55947673 55947673 __UNKNOWN__ Intron SNP T T C rs1438918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55947673T>C ENST00000389286.4 - 12 2089 NM_173814.4 NP_776175.2 protogenin NA NA breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TTATTATAAATATCAGTTTAC 0.229 NA T||| 1148 0.229233 0.264 0.1225 5008 , , NA 15252 0.3919 NA 0.0924 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 26373 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 5 613261 protogenin homolog (Gallus gallus) NA Standard NM_173814 NM_173814 NA Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000389286.4:c.2042-14267A>G chr15.hg19:g.55947673T>C NA hg19 CCDS42040.1 0.02 2.10666 AAAxATC COVERED NOVEL PRTG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419357.1 0 6.015555 KEEP 0 0 0 20 588 TT 0.999863 0.999667 0 - 8 60 297 0 0 21.836059 81 60 2911 121 ENST00000389286.4 0.089888 0.999804 PRTG 283659 __UNKNOWN__ __UNKNOWN__ 15 55970041 55970041 __UNKNOWN__ Silent SNP A A G rs11854213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55970041A>G ENST00000389286.4 - 8 1382 c.1335T>C c.(1333-1335)aaT>aaC p.N445N NM_173814.4 NP_776175.2 protogenin NA NA breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CTTTGTCTGAATTATAAAGTG 0.408 NA A||| 1210 0.241613 0.298 0.1225 5008 , , NA 15648 0.4038 NA 0.0964 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 A 1026,2692 150,726,983 123 116 118 1335 -0.2 1 15 dbSNP_120 118 786,7406 45,696,3355 no coding-synonymous PRTG NM_173814.4 195,1422,4338 GG,GA,AA 9.5947,27.5955,15.2141 445/1151 55970041 1812,10098 1859 4096 5955 SO:0001819 synonymous_variant AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 26373 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 5 613261 protogenin homolog (Gallus gallus) NA Standard NM_173814 NM_173814 NA Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000389286.4:c.1335T>C chr15.hg19:g.55970041A>G NA hg19 CCDS42040.1 0.02 16.911542 TGAxTTA COVERED NOVEL PRTG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419357.1 1 18.055724 KEEP 0 0 0 60 1935 AA 1 1 0 - 25 60 964 1 0 67.750259 374 60 13772 579 ENST00000389286.4 0.062657 1 PRTG 283659 __UNKNOWN__ __UNKNOWN__ 15 55972797 55972797 __UNKNOWN__ Missense_Mutation SNP T T C rs16976466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:55972797T>C ENST00000389286.4 - 5 753 c.706A>G c.(706-708)Aca>Gca p.T236A RP11-420M1.2_ENST00000561155.1_RNA NM_173814.4 NP_776175.2 protogenin NA NA breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) GCTATAATTGTTGGTGTGTGG 0.353 NA T||| 1111 0.221845 0.2988 0.1009 5008 , , NA 13043 0.3214 NA 0.0974 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 T ALA/THR 1024,2680 152,720,980 172 161 165 706 0.2 0.9 15 dbSNP_123 165 806,7394 42,722,3336 yes missense PRTG NM_173814.4 58 194,1442,4316 CC,CT,TT 9.8293,27.6458,15.373 benign 236/1151 55972797 1830,10074 1852 4100 5952 SO:0001583 missense AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 26373 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 5 613261 protogenin homolog (Gallus gallus) NA Standard NM_173814 NM_173814 NA Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000389286.4:c.706A>G chr15.hg19:g.55972797T>C ENSP00000373937:p.Thr236Ala NA hg19 CCDS42040.1 0.02 15.983896 TTGxTGG COVERED 423 0.1936813186813187 135 0.27439024390243905 44 0.12154696132596685 170 0.2972027972027972 74 0.09762532981530343 T 10.54 1.379977 0.24944 0.276458 0.098293 ENSG00000166450 ENST00000389286 T 0.66460 -0.21 5.42 0.203 0.15195 Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.382139 0.28647 N 0.014605 T 0.00012 0.0000 L 0.33753 1.03 0.54753 P 1.8999999999991246E-5 B 0.02656 0.0 B 0.04013 0.001 T 0.17715 -1.0360 9 0.12430 T 0.62 -3.5581 6.225 0.20703 0.147:0.4944:0.0:0.3586 rs16976466;rs52831048;rs56497285;rs16976466 236 Q2VWP7 PRTG_HUMAN A 236 ENSP00000373937:T236A ENSP00000373937:T236A T - 1 0 PRTG 53760089 0.014000 0.17966 0.943000 0.38184 0.750000 0.42670 0.139000 0.16036 0.014000 0.14944 0.377000 0.23210 ACA NOVEL PRTG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419357.1 1 26.453675 KEEP 0 0 0 88 2818 TT 1 1 0 - 15 60 581 0 0 37.636269 376 60 13481 600 ENST00000389286.4 0.038363 1 PRTG 283659 __UNKNOWN__ __UNKNOWN__ 15 56030570 56030570 __UNKNOWN__ 3'UTR SNP A A G rs77555052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:56030570A>G ENST00000561292.1 - 0 683 PRTG_ENST00000389286.4_Intron protogenin NA NA breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TGTTTTTCCAAAAGTGTTTCT 0.378 NA A||| 21 0.00419329 0.0 0.0 5008 , , NA 12435 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK098622 CCDS42040.1 15q21.3 2013-02-11 2010-06-24 ENSG00000166450 ENSG00000166450 283659 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 26373 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 5 613261 protogenin homolog (Gallus gallus) NA Standard NM_173814 NM_173814 NA Approved FLJ25756, IGDCC5 uc002adg.3 Q2VWP7 ENST00000561292.1:c.*111T>C chr15.hg19:g.56030570A>G NA hg19 0.02 16.991348 CCAxAAG COVERED NOVEL PRTG-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000419360.1 1 14.744961 KEEP 0 0 0 49 1590 AA 1 1 0 - 12 60 449 0 0 26.656625 434 60 15385 544 ENST00000561292.1 0.026906 1 NEDD4 4734 __UNKNOWN__ __UNKNOWN__ 15 56207983 56207983 __UNKNOWN__ Silent SNP C C T rs7174459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:56207983C>T ENST00000506154.1 - 1 1323 c.1047G>A c.(1045-1047)tcG>tcA p.S349S NEDD4_ENST00000338963.2_Silent_p.S349S|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000508342.1_Silent_p.S349S NM_001284339.1 NP_001271268.1 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 349 NA adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151) beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TCTTCTGTAACGAGCCCTTCC 0.418 NA C||| 901 0.179912 0.1044 0.3386 5008 , , NA 19211 0.1032 NA 0.2694 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 C , 596,3782 39,518,1632 56 58 58 ,1047 -9.6 0 15 dbSNP_116 58 2435,6145 353,1729,2208 no intron,coding-synonymous NEDD4 NM_006154.2,NM_198400.2 , 392,2247,3840 TT,TC,CC 28.38,13.6135,23.391 , ,349/1248 56207983 3031,9927 2189 4290 6479 SO:0001819 synonymous_variant D42055 CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1 15q 2012-02-23 2012-02-23 ENSG00000069869 ENSG00000069869 4734 7727 protein-coding gene gene with protein product receptor-potentiating factor 1 602278 neural precursor cell expressed, developmentally down-regulated 4 NA 9073511, 8649367 Standard NM_198400 XR_243101 NA Approved KIAA0093, MGC176705, NEDD4-1, RPF1 uc002adi.3 P46934 OTTHUMG00000132015 ENST00000506154.1:c.1047G>A chr15.hg19:g.56207983C>T NA A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89 hg19 0.02 18.275299 TAAxGAG COVERED NOVEL NEDD4-003 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000359818.1 1 22.872342 KEEP 0 0 0 76 2575 CC 1 1 0 - 17 60 616 0 0 39.191724 384 60 13647 537 ENST00000506154.1 0.042394 1 TEX9 374618 __UNKNOWN__ __UNKNOWN__ 15 56687359 56687359 __UNKNOWN__ Intron SNP C C A rs6493856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:56687359C>A ENST00000560582.1 + 1 114 TEX9_ENST00000537232.1_Intron|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000561221.2_3'UTR|TEX9_ENST00000558083.2_3'UTR|TEX9_ENST00000352903.2_Intron Q8N6V9 TEX9_HUMAN testis expressed 9 NA NA cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) cctaggcaaccactattctat 0.383 NA C||| 1851 0.369609 0.3828 0.3804 5008 , , NA 18031 0.3274 NA 0.4503 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC028119 CCDS10157.1, CCDS66776.1 15q21.3 2007-03-13 2007-03-13 ENSG00000151575 ENSG00000151575 374618 29585 protein-coding gene gene with protein product testis expressed sequence 9 NA Standard NM_198524 XM_005254361 NA Approved uc002adp.3 Q8N6V9 OTTHUMG00000132035 ENST00000560582.1:c.96+327C>A chr15.hg19:g.56687359C>A NA B4DH73 hg19 0.02 8.912043 AACxACT COVERED NOVEL TEX9-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418850.1 2 9.631382 KEEP 0 0 0 32 1142 CC 0.999997 0.999997 0 + 7 60 264 0 0 16.258833 214 60 8220 303 ENST00000560582.1 0.031674 1 TEX9 374618 __UNKNOWN__ __UNKNOWN__ 15 56720715 56720715 __UNKNOWN__ 3'UTR SNP T T G rs1554410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:56720715T>G ENST00000560582.1 + 0 400 TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_Intron|TEX9_ENST00000352903.2_Intron Q8N6V9 TEX9_HUMAN testis expressed 9 NA NA cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 14 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TGGTTTGAATTATTTTTATTC 0.284 NA T||| 1477 0.294928 0.09 0.353 5008 , , NA 15722 0.3433 NA 0.4473 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028119 CCDS10157.1, CCDS66776.1 15q21.3 2007-03-13 2007-03-13 ENSG00000151575 ENSG00000151575 374618 29585 protein-coding gene gene with protein product testis expressed sequence 9 NA Standard NM_198524 XM_005254361 NA Approved uc002adp.3 Q8N6V9 OTTHUMG00000132035 ENST00000560582.1:c.*73T>G chr15.hg19:g.56720715T>G NA B4DH73 hg19 0.02 13.170457 AATxATT COVERED NOVEL TEX9-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000418850.1 1 13.23871 KEEP 0 0 0 44 1380 TT 1 1 0 + 10 60 361 0 0 21.338583 327 60 11774 416 ENST00000560582.1 0.029674 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 57618514 57618514 __UNKNOWN__ IGR SNP C C T rs12906829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:57618514C>T NA NA RP11-358M11.3 (2408 upstream) : CGNL1 (50188 downstream) NA NA NA CGAGGGTCGCCGGTCGGTCCA 0.607 NA c||| 1579 0.315296 0.0219 0.4207 5008 , , NA 16925 0.3482 NA 0.4692 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.57618514C>T NA hg19 0.02 2.07921 CGCxGGT COVERED NOVEL 0 1 6.019428 KEEP 0 0 0 20 705 CC 0.999863 0.984026 0 5 60 171 0 0 12.095092 53 60 1889 99 0.086207 0.984161 LIPC 3990 __UNKNOWN__ __UNKNOWN__ 15 58857378 58857378 __UNKNOWN__ Splice_Site SNP A A G rs17269397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:58857378A>G ENST00000414170.3 + 10 1676 c.1389A>G c.(1387-1389)agA>agG p.R463R LIPC_ENST00000299022.5_Intron|LIPC_ENST00000433326.2_Intron|LIPC_ENST00000356113.6_Intron P11150 LIPC_HUMAN lipase, hepatic 463 PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}. NA cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372) extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364) apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CTGCCAACAGATCTCCCAACA 0.502 NA A||| 1491 0.297724 0.1354 0.4597 5008 , , NA 21884 0.0952 NA 0.5368 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001630 splice_region_variant CCDS10166.1 15q21-q23 2012-10-02 ENSG00000166035 ENSG00000166035 3990 3.1.1.3 6619 protein-coding gene gene with protein product 151670 NA Standard NM_000236 NA Approved HL, HTGL uc002afa.2 P11150 OTTHUMG00000132632 ENST00000414170.3:c.1389-1A>G chr15.hg19:g.58857378A>G NA A2RUB4|A8K9B6|O43571|P78529|Q99465 hg19 0.02 8.700101 CAGxTCT COVERED NOVEL LIPC-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000416210.1 2 12.335571 KEEP 0 0 0 41 1289 AA 1 1 0 Silent + 11 60 403 0 0 26.291248 223 60 7922 324 ENST00000414170.3 0.047009 1 ADAM10 102 __UNKNOWN__ __UNKNOWN__ 15 58936150 58936150 __UNKNOWN__ Missense_Mutation SNP T T C rs147572059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:58936150T>C ENST00000260408.3 - 7 1206 c.763A>G c.(763-765)Aca>Gca p.T255A ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000402627.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 255 Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}. NA cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197) endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TGGTAAATTGTATCAATCGCT 0.303 NA T||| 10 0.00199681 0.0 0.0 5008 , , NA 16776 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 116 115 116 NA NA 15 NA 58936150 2192 4292 6484 SO:0001583 missense AF009615 CCDS10167.1 15q2 2006-09-25 2005-08-18 ENSG00000137845 ENSG00000137845 102 ADAM metallopeptidase domain containing, CD molecules 188 protein-coding gene gene with protein product 602192 a disintegrin and metalloproteinase domain 10 NA 9344679, 9441766 Standard NM_001110 XM_005254117 NA Approved kuz, MADM, HsT18717, CD156c uc002afd.1 O14672 OTTHUMG00000132633 ENST00000260408.3:c.763A>G chr15.hg19:g.58936150T>C ENSP00000260408:p.Thr255Ala NA B4DU28|Q10742|Q92650 hg19 CCDS10167.1 0.02 2.01891 TTGxATC COVERED 8 0.003663003663003663 0 0.0 0 0.0 8 0.013986013986013986 0 0.0 T 7.358 0.624268 0.14193 . . ENSG00000137845 ENST00000260408;ENST00000396136 D 0.86297 -2.1 5.55 5.55 0.83447 Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2); 0.144419 0.64402 D 0.000006 T 0.63070 0.2480 N 0.02721 -0.515 0.80722 D 1 B 0.02656 0.0 B 0.09377 0.004 T 0.66504 -0.5907 10 0.06625 T 0.88 -20.6029 15.6935 0.77473 0.0:0.0:0.0:1.0 . 255 O14672 ADA10_HUMAN A 255;74 ENSP00000260408:T255A ENSP00000260408:T255A T - 1 0 ADAM10 56723442 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.792000 0.47837 2.109000 0.64355 0.477000 0.44152 ACA NOVEL ADAM10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255880.2 1 10.229849 KEEP 0 0 0 34 1035 TT 0.999998 0.999954 0 - 6 60 231 0 0 16.134486 93 60 3415 177 ENST00000260408.3 0.060606 0.999956 RNF111 54778 __UNKNOWN__ __UNKNOWN__ 15 59389466 59389466 __UNKNOWN__ 3'UTR SNP G G A rs1044673 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59389466G>A ENST00000348370.4 + 0 5761 NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 NA NA gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) AAATTCTTTTGTTAGCAAGTC 0.323 NA G||| 333 0.0664936 0.0817 0.0994 5008 , , NA 19200 0.0278 NA 0.0507 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NSCLC(72;983 1365 10746 34387 47081) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL157474 CCDS10169.1, CCDS58365.1, CCDS58366.1 15q21 2013-01-09 ENSG00000157450 ENSG00000157450 54778 RING-type (C3HC4) zinc fingers 17384 protein-coding gene gene with protein product 605840 NA 11298452 Standard NM_017610 NM_017610 NA Approved ARK, Arkadia, FLJ38008, DKFZP761D081 uc002aft.4 Q6ZNA4 OTTHUMG00000132716 ENST00000348370.4:c.*2367G>A chr15.hg19:g.59389466G>A NA C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1 hg19 CCDS10169.1 0.02 8.535853 TTTxTTA COVERED NOVEL RNF111-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256017.2 1 11.136458 KEEP 0 0 0 37 1321 GG 1 1 0 + 11 60 404 0 0 26.985795 196 60 7343 285 ENST00000348370.4 0.05314 1 MYO1E 4643 __UNKNOWN__ __UNKNOWN__ 15 59427807 59427807 __UNKNOWN__ 3'UTR SNP C C T rs4775116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59427807C>T ENST00000288235.4 - 0 5498 NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE NA NA actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TAACATTATTCGTTACTGTTA 0.383 NA T||| 1874 0.374201 0.593 0.4438 5008 , , NA 23775 0.2917 NA 0.2604 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U14391 CCDS32254.1 15q21-q22 2011-09-27 ENSG00000157483 4643 Myosins / Myosin superfamily : Class I 7599 protein-coding gene gene with protein product myosin-IC 601479 NA 8884266 Standard NM_004998 NM_004998 NA Approved MYO1C, HuncM-IC, MGC104638 uc002aga.4 Q12965 ENST00000288235.4:c.*1772G>A chr15.hg19:g.59427807C>T NA Q14778 hg19 CCDS32254.1 0.02 6.3178 ATTxGTT COVERED NOVEL MYO1E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416024.1 1 6.320192 KEEP 0 0 0 21 723 CC 0.999869 0.999869 0 - 7 60 254 0 0 15.585564 192 60 6794 253 ENST00000288235.4 0.035176 1 MYO1E 4643 __UNKNOWN__ __UNKNOWN__ 15 59429111 59429111 __UNKNOWN__ 3'UTR SNP G G A rs11539756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59429111G>A ENST00000288235.4 - 0 4194 NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE NA NA actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570) actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091) breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TGCAGAGGGCGGGTCCTCCCT 0.557 NA G||| 1368 0.273163 0.2231 0.3934 5008 , , NA 17684 0.38 NA 0.2187 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U14391 CCDS32254.1 15q21-q22 2011-09-27 ENSG00000157483 4643 Myosins / Myosin superfamily : Class I 7599 protein-coding gene gene with protein product myosin-IC 601479 NA 8884266 Standard NM_004998 NM_004998 NA Approved MYO1C, HuncM-IC, MGC104638 uc002aga.4 Q12965 ENST00000288235.4:c.*468C>T chr15.hg19:g.59429111G>A NA Q14778 hg19 CCDS32254.1 0.02 4.77877 GGCxGGT COVERED NOVEL MYO1E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416024.1 1 3.310362 KEEP 0 0 0 11 372 GG 0.993072 0.993072 0 - 5 60 195 0 0 12.772031 120 60 4135 152 ENST00000288235.4 0.04 0.999999 GCNT3 9245 __UNKNOWN__ __UNKNOWN__ 15 59911421 59911421 __UNKNOWN__ Silent SNP A A T rs4775190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59911421A>T ENST00000396065.1 + 3 1432 c.984A>T c.(982-984)ccA>ccT p.P328P GCNT3_ENST00000560585.1_Silent_p.P328P NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 328 NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTTATAGCCCAGATGAACACC 0.493 NA T||| 770 0.153754 0.1611 0.0245 5008 , , NA 21480 0.2748 NA 0.0348 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 T 558,3822 772.1+/-413.9 22,514,1654 120 119 120 984 -11 0.2 15 dbSNP_111 120 316,8264 804.5+/-407.3 8,300,3982 no coding-synonymous GCNT3 NM_004751.2 30,814,5636 TT,TA,AA 3.683,12.7397,6.7438 328/439 59911421 874,12086 2190 4290 6480 SO:0001819 synonymous_variant AF102542 CCDS10172.1 15q22 2013-02-25 ENSG00000140297 ENSG00000140297 9245 2.4.1.102, 2.4.1.150 Glucosaminyl (N-acetyl) transferase and xylosyltransferase family 4205 protein-coding gene gene with protein product 606836 NA 9915862, 9988682 Standard NM_004751 NM_004751 NA Approved C2GnT-M, C2/4GnT, C2GnT2 uc002age.3 O95395 OTTHUMG00000132726 ENST00000396065.1:c.984A>T chr15.hg19:g.59911421A>T NA hg19 CCDS10172.1 0.02 14.130401 CCCxGAT COVERED NOVEL GCNT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256068.1 6 10.063546 KEEP 0 1 33 45 1386 AA 1 1 0 + 9 60 351 0 0 21.467801 321 60 11977 441 ENST00000396065.1 0.027273 1 GCNT3 9245 __UNKNOWN__ __UNKNOWN__ 15 59911970 59911970 __UNKNOWN__ 3'UTR SNP A A C rs3743120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59911970A>C ENST00000396065.1 + 0 1981 GCNT3_ENST00000560585.1_3'UTR NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type NA NA carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020) acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TAACCCTAGTAGTTCCTCCAC 0.458 NA A||| 895 0.178714 0.2216 0.0274 5008 , , NA 21049 0.2768 NA 0.0368 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF102542 CCDS10172.1 15q22 2013-02-25 ENSG00000140297 ENSG00000140297 9245 2.4.1.102, 2.4.1.150 Glucosaminyl (N-acetyl) transferase and xylosyltransferase family 4205 protein-coding gene gene with protein product 606836 NA 9915862, 9988682 Standard NM_004751 NM_004751 NA Approved C2GnT-M, C2/4GnT, C2GnT2 uc002age.3 O95395 OTTHUMG00000132726 ENST00000396065.1:c.*216A>C chr15.hg19:g.59911970A>C NA hg19 CCDS10172.1 0.02 5.412644 AGTxGTT COVERED NOVEL GCNT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256068.1 2 7.221848 KEEP 0 0 0 24 754 AA 0.999909 0.999909 0 + 7 60 229 0 0 13.080216 193 60 7141 258 ENST00000396065.1 0.035 1 GTF2A2 2958 __UNKNOWN__ __UNKNOWN__ 15 59930772 59930772 __UNKNOWN__ 3'UTR SNP G G C rs8027679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59930772G>C ENST00000396060.2 - 0 1070 NM_004492.2 NP_004483.1 P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa NA NA gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(2)|kidney(2)|lung(1) 5 TTTTGGTTTTGTTTTTGCTAT 0.353 NA G||| 3090 0.617013 0.733 0.5548 5008 , , NA 17898 0.4038 NA 0.671 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001919 CCDS10173.1 15q21.3 2010-03-23 2002-08-29 ENSG00000140307 ENSG00000140307 2958 General transcription factors 4647 protein-coding gene gene with protein product 600519 general transcription factor IIA, 2 (12kD subunit) NA 7958899 Standard NM_004492 NM_004492 NA Approved TFIIA, HsT18745 uc002agg.3 P52657 OTTHUMG00000132725 ENST00000396060.2:c.*559C>G chr15.hg19:g.59930772G>C NA A8MYQ7|Q6FGB5 hg19 CCDS10173.1 0.02 6.976868 TTTxTTT COVERED NOVEL GTF2A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256067.2 1 4.54933 KEEP 0 1 31 26 906 GG 0.999988 0.999988 0 - 6 60 218 0 0 13.597136 152 60 5669 208 ENST00000396060.2 0.037975 1 GTF2A2 2958 __UNKNOWN__ __UNKNOWN__ 15 59930865 59930865 __UNKNOWN__ 3'UTR SNP A A T rs8027421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59930865A>T ENST00000396060.2 - 0 977 NM_004492.2 NP_004483.1 P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa NA NA gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(2)|kidney(2)|lung(1) 5 TTAAAAAGCAAGGGATTTTCT 0.308 NA A||| 716 0.142971 0.1278 0.0231 5008 , , NA 17589 0.247 NA 0.0209 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001919 CCDS10173.1 15q21.3 2010-03-23 2002-08-29 ENSG00000140307 ENSG00000140307 2958 General transcription factors 4647 protein-coding gene gene with protein product 600519 general transcription factor IIA, 2 (12kD subunit) NA 7958899 Standard NM_004492 NM_004492 NA Approved TFIIA, HsT18745 uc002agg.3 P52657 OTTHUMG00000132725 ENST00000396060.2:c.*466T>A chr15.hg19:g.59930865A>T NA A8MYQ7|Q6FGB5 hg19 CCDS10173.1 0.02 6.348913 GCAxGGG COVERED NOVEL GTF2A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256067.2 1 6.619477 KEEP 0 0 0 22 694 AA 0.999879 0.999879 0 - 7 60 257 0 0 16.32251 166 60 5997 226 ENST00000396060.2 0.040462 1 GTF2A2 2958 __UNKNOWN__ __UNKNOWN__ 15 59931131 59931131 __UNKNOWN__ 3'UTR SNP A A G rs4232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59931131A>G ENST00000396064.3 - 0 566 GTF2A2_ENST00000396063.1_3'UTR|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396060.2_3'UTR P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa NA NA gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) central_nervous_system(2)|kidney(2)|lung(1) 5 TCCTTAAAAAAAAGTTATGGT 0.328 NA A||| 3095 0.618011 0.7398 0.5591 5008 , , NA 17079 0.4058 NA 0.672 False NA ,,, NA NA NA 2504 0.6585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001919 CCDS10173.1 15q21.3 2010-03-23 2002-08-29 ENSG00000140307 ENSG00000140307 2958 General transcription factors 4647 protein-coding gene gene with protein product 600519 general transcription factor IIA, 2 (12kD subunit) NA 7958899 Standard NM_004492 NM_004492 NA Approved TFIIA, HsT18745 uc002agg.3 P52657 OTTHUMG00000132725 ENST00000396064.3:c.*196T>C chr15.hg19:g.59931131A>G NA A8MYQ7|Q6FGB5 hg19 0.02 4.02671 AAAxAAG COVERED NOVEL GTF2A2-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000316671.1 1 4.813776 KEEP 0 0 0 16 488 AA 0.997832 0.997831 0 - 5 60 182 0 0 11.369576 126 60 4435 154 ENST00000396064.3 0.038168 1 BNIP2 663 __UNKNOWN__ __UNKNOWN__ 15 59951997 59951997 __UNKNOWN__ 3'UTR SNP C C A rs1046053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59951997C>A ENST00000267859.3 - 0 5672 AC092755.4_ENST00000441746.1_RNA Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 NA NA apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802) NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 TTGGTGCTTACGTGCTTTATG 0.269 NA A||| 3157 0.630391 0.7617 0.611 5008 , , NA 21571 0.4345 NA 0.6461 False NA ,,, NA NA NA 2504 0.6524 NA NA NA Ovarian(174;1936 1978 6671 8240 38212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15173 CCDS10174.2 15q21.3 2008-07-18 2002-08-29 ENSG00000140299 ENSG00000140299 663 1083 protein-coding gene gene with protein product 603292 BCL2/adenovirus E1B 19kD-interacting protein 2 NA 7954800 Standard NM_004330 NM_004330 NA Approved Nip2, BNIP-2 uc010uhc.2 Q12982 OTTHUMG00000132727 ENST00000267859.3:c.*4271G>T chr15.hg19:g.59951997C>A NA B4DS94 hg19 CCDS10174.2 0.02 6.561204 TTAxGTG COVERED NOVEL BNIP2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256069.3 1 14.144503 KEEP 0 0 0 47 1572 CC 1 1 0 - 6 60 229 0 0 14.1444 188 60 6402 268 ENST00000267859.3 0.030928 1 BNIP2 663 __UNKNOWN__ __UNKNOWN__ 15 59953806 59953806 __UNKNOWN__ 3'UTR SNP A A G rs17236734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59953806A>G ENST00000267859.3 - 0 3863 AC092755.4_ENST00000441746.1_RNA Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 NA NA apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802) NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 TTCACATGAAAAACTTCTGAC 0.368 NA A||| 701 0.139976 0.1074 0.0216 5008 , , NA 18129 0.249 NA 0.0249 False NA ,,, NA NA NA 2504 0.274 NA NA NA Ovarian(174;1936 1978 6671 8240 38212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15173 CCDS10174.2 15q21.3 2008-07-18 2002-08-29 ENSG00000140299 ENSG00000140299 663 1083 protein-coding gene gene with protein product 603292 BCL2/adenovirus E1B 19kD-interacting protein 2 NA 7954800 Standard NM_004330 NM_004330 NA Approved Nip2, BNIP-2 uc010uhc.2 Q12982 OTTHUMG00000132727 ENST00000267859.3:c.*2462T>C chr15.hg19:g.59953806A>G NA B4DS94 hg19 CCDS10174.2 0.02 6.930735 GAAxAAC COVERED NOVEL BNIP2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256069.3 0 8.658603 KEEP 0 1 32 40 1239 AA 1 1 0 - 6 60 236 0 0 14.954419 180 60 6490 252 ENST00000267859.3 0.032258 1 BNIP2 663 __UNKNOWN__ __UNKNOWN__ 15 59953949 59953949 __UNKNOWN__ 3'UTR SNP A A G rs6151591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59953949A>G ENST00000267859.3 - 0 3720 AC092755.4_ENST00000441746.1_RNA Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 NA NA apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802) NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 GGAAATTAAAATGGAATAATA 0.294 NA A||| 732 0.146166 0.1301 0.0231 5008 , , NA 19810 0.249 NA 0.0249 False NA ,,, NA NA NA 2504 0.274 NA NA NA Ovarian(174;1936 1978 6671 8240 38212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15173 CCDS10174.2 15q21.3 2008-07-18 2002-08-29 ENSG00000140299 ENSG00000140299 663 1083 protein-coding gene gene with protein product 603292 BCL2/adenovirus E1B 19kD-interacting protein 2 NA 7954800 Standard NM_004330 NM_004330 NA Approved Nip2, BNIP-2 uc010uhc.2 Q12982 OTTHUMG00000132727 ENST00000267859.3:c.*2319T>C chr15.hg19:g.59953949A>G NA B4DS94 hg19 CCDS10174.2 0.02 8.584127 AAAxTGG COVERED NOVEL BNIP2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256069.3 2 19.558204 KEEP 0 0 0 65 2068 AA 1 1 0 - 9 60 342 0 0 21.732897 237 60 8673 386 ENST00000267859.3 0.036585 1 BNIP2 663 __UNKNOWN__ __UNKNOWN__ 15 59953965 59953965 __UNKNOWN__ 3'UTR SNP A A G rs6151590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59953965A>G ENST00000267859.3 - 0 3704 AC092755.4_ENST00000441746.1_RNA Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 NA NA apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802) NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 TAATATGGGAAATGTTAACTT 0.289 NA A||| 3062 0.611422 0.7595 0.5274 5008 , , NA 19823 0.4058 NA 0.6441 False NA ,,, NA NA NA 2504 0.6493 NA NA NA Ovarian(174;1936 1978 6671 8240 38212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15173 CCDS10174.2 15q21.3 2008-07-18 2002-08-29 ENSG00000140299 ENSG00000140299 663 1083 protein-coding gene gene with protein product 603292 BCL2/adenovirus E1B 19kD-interacting protein 2 NA 7954800 Standard NM_004330 NM_004330 NA Approved Nip2, BNIP-2 uc010uhc.2 Q12982 OTTHUMG00000132727 ENST00000267859.3:c.*2303T>C chr15.hg19:g.59953965A>G NA B4DS94 hg19 CCDS10174.2 0.02 8.866188 GGAxATG COVERED NOVEL BNIP2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256069.3 2 10.869764 KEEP 0 1 40 50 1603 AA 1 1 0 - 8 60 307 0 0 19.173615 240 60 8611 356 ENST00000267859.3 0.032258 1 BNIP2 663 __UNKNOWN__ __UNKNOWN__ 15 59954398 59954398 __UNKNOWN__ 3'UTR SNP G G A rs6151588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59954398G>A ENST00000267859.3 - 0 3271 AC092755.4_ENST00000441746.1_RNA Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 NA NA apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802) NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 CCCATTTTGAGCAAGATAAAG 0.284 NA g||| 3063 0.611621 0.7595 0.5288 5008 , , NA 18810 0.4058 NA 0.6441 False NA ,,, NA NA NA 2504 0.6493 NA NA NA Ovarian(174;1936 1978 6671 8240 38212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U15173 CCDS10174.2 15q21.3 2008-07-18 2002-08-29 ENSG00000140299 ENSG00000140299 663 1083 protein-coding gene gene with protein product 603292 BCL2/adenovirus E1B 19kD-interacting protein 2 NA 7954800 Standard NM_004330 NM_004330 NA Approved Nip2, BNIP-2 uc010uhc.2 Q12982 OTTHUMG00000132727 ENST00000267859.3:c.*1870C>T chr15.hg19:g.59954398G>A NA B4DS94 hg19 CCDS10174.2 0.02 6.199118 TGAxCAA COVERED NOVEL BNIP2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000256069.3 2 6.692005 KEEP 0 2 68 46 1673 GG 1 1 0 - 8 60 290 0 0 18.875351 159 60 5996 264 ENST00000267859.3 0.047904 1 BNIP2 663 __UNKNOWN__ __UNKNOWN__ 15 59968935 59968935 __UNKNOWN__ Intron SNP G G A rs6151522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:59968935G>A ENST00000607373.1 - 5 675 BNIP2_ENST00000267859.3_Intron|BNIP2_ENST00000415213.2_Intron NM_004330.2 NP_004321.2 Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 2 NA NA apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149) cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635) calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802) NS(1)|large_intestine(2)|lung(5)|ovary(1) 9 GGTGCGGTGCGGGCGGCAGAG 0.577 NA G||| 857 0.171126 0.1551 0.1066 5008 , , NA 15974 0.2778 NA 0.0268 False NA ,,, NA NA NA 2504 0.2771 NA NA NA Ovarian(174;1936 1978 6671 8240 38212) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U15173 CCDS10174.2 15q21.3 2008-07-18 2002-08-29 ENSG00000140299 ENSG00000140299 663 1083 protein-coding gene gene with protein product 603292 BCL2/adenovirus E1B 19kD-interacting protein 2 NA 7954800 Standard NM_004330 NM_004330 NA Approved Nip2, BNIP-2 uc010uhc.2 Q12982 OTTHUMG00000132727 ENST00000607373.1:c.472+1174C>T chr15.hg19:g.59968935G>A NA B4DS94 hg19 0.02 6.790661 TGCxGGC COVERED NOVEL BNIP2-012 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000470740.1 2 31.598782 KEEP 0 0 0 105 3596 GG 1 1 0 - 7 60 265 0 0 17.228392 160 60 5510 353 ENST00000607373.1 0.041916 1 ANXA2 302 __UNKNOWN__ __UNKNOWN__ 15 60666686 60666686 __UNKNOWN__ Intron SNP C C T rs4775262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:60666686C>T ENST00000396024.3 - 4 308 ANXA2_ENST00000332680.4_Intron|ANXA2_ENST00000557937.1_Intron|ANXA2_ENST00000451270.2_Intron|ANXA2_ENST00000421017.2_Intron NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 NA NA angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661) basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548) kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Tenecteplase(DB00031) TTGCTGACACCAGATTAGAAT 0.398 NA C||| 483 0.0964457 0.0113 0.036 5008 , , NA 21184 0.1806 NA 0.1133 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D00017 CCDS10175.1, CCDS32256.1 15q22.2 2012-10-02 ENSG00000182718 ENSG00000182718 302 Annexins 537 protein-coding gene gene with protein product annexin II 151740 ANX2, ANX2L4, CAL1H, LPC2D NA 7961821 Standard NM_001002857 NM_001136015 NA Approved LIP2 uc002agm.3 P07355 OTTHUMG00000132763 ENST00000396024.3:c.148+7854G>A chr15.hg19:g.60666686C>T NA Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8 hg19 CCDS10175.1 0.02 8.563565 CACxAGA COVERED NOVEL ANXA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256135.1 1 28.292207 KEEP 0 0 0 94 3347 CC 1 1 0 - 12 60 446 0 0 29.685255 226 60 8457 413 ENST00000396024.3 0.05042 1 ANXA2 302 __UNKNOWN__ __UNKNOWN__ 15 60678160 60678160 __UNKNOWN__ Intron SNP G G A rs3743268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:60678160G>A ENST00000396024.3 - 3 208 ANXA2_ENST00000332680.4_Intron|ANXA2_ENST00000557937.1_Intron|ANXA2_ENST00000451270.2_Intron|ANXA2_ENST00000421017.2_Intron NM_001136015.2 NP_001129487.1 P07355 ANXA2_HUMAN annexin A2 NA NA angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661) basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982) calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548) kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Tenecteplase(DB00031) AGGATAGAGAGTAATATGGTT 0.378 NA G||| 1345 0.26857 0.031 0.3069 5008 , , NA 19972 0.4454 NA 0.3429 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 G ,,, 111,1273 7,97,588 58 51 53 ,,, -4.2 0 15 dbSNP_107 53 1037,2145 178,681,732 no intron,intron,intron,intron ANXA2 NM_001002857.1,NM_001002858.2,NM_001136015.2,NM_004039.2 ,,, 185,778,1320 AA,AG,GG 32.5896,8.0202,25.1424 ,,, ,,, 60678160 1148,3418 692 1591 2283 SO:0001627 intron_variant D00017 CCDS10175.1, CCDS32256.1 15q22.2 2012-10-02 ENSG00000182718 ENSG00000182718 302 Annexins 537 protein-coding gene gene with protein product annexin II 151740 ANX2, ANX2L4, CAL1H, LPC2D NA 7961821 Standard NM_001002857 NM_001136015 NA Approved LIP2 uc002agm.3 P07355 OTTHUMG00000132763 ENST00000396024.3:c.48+66C>T chr15.hg19:g.60678160G>A NA Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8 hg19 CCDS10175.1 0.02 3.85932 AGAxTAA COVERED NOVEL ANXA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256135.1 1 4.514506 KEEP 0 0 0 15 515 GG 0.99649 0.996488 0 - 6 60 211 0 0 13.712202 110 60 4096 131 ENST00000396024.3 0.051724 0.999997 NARG2 0 __UNKNOWN__ __UNKNOWN__ 15 60742063 60742063 __UNKNOWN__ Intron SNP G G T rs1869484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:60742063G>T ENST00000261520.4 - 10 1360 NARG2_ENST00000439632.1_Intron NM_024611.4 NP_078887.2 NA NA breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 AATTGGTAAAGTATTAGTAAA 0.343 NA G||| 2967 0.592452 0.2511 0.6499 5008 , , NA 18706 0.8214 NA 0.5706 False NA ,,, NA NA NA 2504 0.7996 NA NA NA NA 0 G , 1185,3137 181,823,1157 36 39 38 , -3 0 15 dbSNP_92 38 4481,3801 1286,1909,946 no intron,intron NARG2 NM_001018089.1,NM_024611.4 , 1467,2732,2103 TT,TG,GG 45.8947,27.4179,44.954 , , 60742063 5666,6938 2161 4141 6302 SO:0001627 intron_variant NA NA NA NA ENST00000261520.4:c.1126-23C>A chr15.hg19:g.60742063G>T NA hg19 CCDS10176.1 0.02 9.177428 AAAxTAT COVERED NOVEL NARG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256136.1 1 17.75795 KEEP 0 0 0 59 2127 GG 1 1 0 - 9 60 347 0 0 22.589713 216 60 8145 364 ENST00000261520.4 0.04 1 RORA 6095 __UNKNOWN__ __UNKNOWN__ 15 60797607 60797607 __UNKNOWN__ Intron SNP T T C rs7171309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:60797607T>C ENST00000335670.6 - 6 1043 RORA_ENST00000309157.4_Intron|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Intron|RORA_ENST00000449337.2_Intron|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559824.1_RNA NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A NA NA angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805) nucleoplasm (GO:0005654)|nucleus (GO:0005634) direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 CCTGATGACATTCATTCTTTA 0.363 NA T||| 2974 0.59385 0.2534 0.6484 5008 , , NA 19279 0.8204 NA 0.5646 False NA ,,, NA NA NA 2504 0.8119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U04897 CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1 15q21-q22 2013-01-16 ENSG00000069667 ENSG00000069667 6095 Nuclear hormone receptors 10258 protein-coding gene gene with protein product 600825 NA 7926749 Standard NM_134261 NA Approved RZRA, ROR1, ROR2, ROR3, NR1F1 uc002agv.3 P35398 OTTHUMG00000132769 ENST00000335670.6:c.942+99A>G chr15.hg19:g.60797607T>C NA P35397|P35399|P45445|Q495X4|Q96H83 hg19 CCDS10177.1 0.02 6.962712 ACAxTCA COVERED NOVEL RORA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256142.2 0 2.939945 KEEP 0 1 35 22 618 TT 0.999892 0.999892 0 - 9 60 334 0 0 22.387135 162 60 5899 208 ENST00000335670.6 0.052632 1 VPS13C 54832 __UNKNOWN__ __UNKNOWN__ 15 62147207 62147207 __UNKNOWN__ Intron SNP T T A rs2241492 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:62147207T>A ENST00000261517.5 - 84 11150 VPS13C_ENST00000249837.3_Intron NM_020821.2 NP_065872.1 vacuolar protein sorting 13 homolog C (S. cerevisiae) NA NA NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGAAAAAAATTCCTAACTTT 0.308 NA A||| 1666 0.332668 0.2436 0.4813 5008 , , NA 17010 0.2659 NA 0.3767 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 A , 412,972 66,280,346 26 24 25 , 1.6 0 15 dbSNP_98 25 1191,1991 245,701,645 no intron,intron VPS13C NM_017684.4,NM_020821.2 , 311,981,991 AA,AT,TT 37.4293,29.7688,35.1073 , , 62147207 1603,2963 692 1591 2283 SO:0001627 intron_variant AJ608770 CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1 15q21.3 2009-07-09 2006-04-04 ENSG00000129003 ENSG00000129003 54832 23594 protein-coding gene gene with protein product 608879 vacuolar protein sorting 13C (yeast) NA Standard NM_017684 NM_018080 NA Approved FLJ20136, FLJ10381, KIAA1421 uc002agz.3 Q709C8 OTTHUMG00000132801 ENST00000261517.5:c.11077-54A>T chr15.hg19:g.62147207T>A NA hg19 CCDS32257.1 0.02 2.087923 AAAxTCC COVERED NOVEL VPS13C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415997.1 1 3.609703 KEEP 0 0 0 12 370 TT 0.993634 0.977896 0 - 4 60 139 0 0 9.521126 53 60 1884 72 ENST00000261517.5 0.070175 0.984161 VPS13C 54832 __UNKNOWN__ __UNKNOWN__ 15 62175003 62175003 __UNKNOWN__ Intron SNP C C G rs12442506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:62175003C>G ENST00000261517.5 - 69 9557 VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Intron NM_020821.2 NP_065872.1 vacuolar protein sorting 13 homolog C (S. cerevisiae) NA NA NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TTTTTAATATCTGTTTATTGA 0.328 NA C||| 606 0.121006 0.0908 0.2061 5008 , , NA 16992 0.2054 NA 0.0298 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ608770 CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1 15q21.3 2009-07-09 2006-04-04 ENSG00000129003 ENSG00000129003 54832 23594 protein-coding gene gene with protein product 608879 vacuolar protein sorting 13C (yeast) NA Standard NM_017684 NM_018080 NA Approved FLJ20136, FLJ10381, KIAA1421 uc002agz.3 Q709C8 OTTHUMG00000132801 ENST00000261517.5:c.9484-68G>C chr15.hg19:g.62175003C>G NA hg19 CCDS32257.1 0.02 2.261184 TATxTGT COVERED NOVEL VPS13C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415997.1 0 2.709047 KEEP 0 0 0 9 341 CC 0.99254 0.980573 0 - 4 60 150 0 0 10.527467 56 60 2154 76 ENST00000261517.5 0.066667 0.987943 VPS13C 54832 __UNKNOWN__ __UNKNOWN__ 15 62202482 62202482 __UNKNOWN__ Missense_Mutation SNP C C T rs10851704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:62202482C>T ENST00000261517.5 - 64 8811 c.8738G>A c.(8737-8739)aGt>aAt p.S2913N VPS13C_ENST00000395898.3_Missense_Mutation_p.S2870N|VPS13C_ENST00000249837.3_Missense_Mutation_p.S2870N|VPS13C_ENST00000395896.4_Missense_Mutation_p.S2913N NM_020821.2 NP_065872.1 vacuolar protein sorting 13 homolog C (S. cerevisiae) NA NA NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GCCTGACAAACTTTCTGGCCA 0.338 NA T||| 2586 0.516374 0.4841 0.6671 5008 , , NA 9613 0.4732 NA 0.5517 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 T ASN/SER,ASN/SER,ASN/SER,ASN/SER 2198,2208 586.2+/-386.4 563,1072,568 50 52 51 8738,8609,8609,8738 3.5 1 15 dbSNP_120 51 4603,3997 552.6+/-386.1 1235,2133,932 yes missense,missense,missense,missense VPS13C NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2 46,46,46,46 1798,3205,1500 TT,TC,CC 46.4767,49.8865,47.7087 benign,benign,benign,benign 2913/3629,2870/3711,2870/3586,2913/3754 62202482 6801,6205 2203 4300 6503 SO:0001583 missense AJ608770 CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1 15q21.3 2009-07-09 2006-04-04 ENSG00000129003 ENSG00000129003 54832 23594 protein-coding gene gene with protein product 608879 vacuolar protein sorting 13C (yeast) NA Standard NM_017684 NM_018080 NA Approved FLJ20136, FLJ10381, KIAA1421 uc002agz.3 Q709C8 OTTHUMG00000132801 ENST00000261517.5:c.8738G>A chr15.hg19:g.62202482C>T ENSP00000261517:p.Ser2913Asn NA hg19 CCDS32257.1 0.02 10.507938 AAAxTTT COVERED 1177 0.5389194139194139 242 0.491869918699187 231 0.638121546961326 281 0.49125874125874125 423 0.558047493403694 T 4.368 0.067920 0.08436 0.498865 0.535233 ENSG00000129003 ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898 T;T;T 0.27720 1.65;1.65;1.65 5.85 3.54 0.40534 Vacuolar protein sorting-associated protein (1); 0.145640 0.64402 N 0.000014 T 0.00012 0.0000 N 0.01656 -0.775 0.54753 P 1.3000000000040757E-5 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.04013 0.001;0.001;0.001;0.001;0.001 T 0.47182 -0.9137 9 0.02654 T 1 . 9.5913 0.39548 0.0:0.2007:0.0:0.7993 rs10851704;rs52801554;rs59009682;rs10851704 2913;2870;2913;2870;2913 F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8 .;.;.;.;VP13C_HUMAN N 2870;2913;2913;2913 ENSP00000249837:S2870N;ENSP00000261517:S2913N;ENSP00000379233:S2913N ENSP00000249837:S2870N S - 2 0 VPS13C 59989774 1.000000 0.71417 0.971000 0.41717 0.983000 0.72400 0.853000 0.27777 0.133000 0.18654 -0.254000 0.11334 AGT NOVEL VPS13C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415997.1 1 11.443092 KEEP 0 3 97 72 2613 CC 1 1 0 - 8 60 294 0 0 17.207387 292 60 11300 504 ENST00000261517.5 0.026667 1 VPS13C 54832 __UNKNOWN__ __UNKNOWN__ 15 62254989 62254989 __UNKNOWN__ Missense_Mutation SNP T T C rs3784635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:62254989T>C ENST00000261517.5 - 33 3467 c.3394A>G c.(3394-3396)Att>Gtt p.I1132V VPS13C_ENST00000395898.3_Missense_Mutation_p.I1089V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1089V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1132V NM_020821.2 NP_065872.1 vacuolar protein sorting 13 homolog C (S. cerevisiae) NA NA NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GTGACAATAATATTTTCTAGT 0.338 NA T||| 485 0.096845 0.0038 0.196 5008 , , NA 13637 0.2054 NA 0.0298 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 T VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE 36,4370 39.2+/-71.8 1,34,2168 74 76 75 3394,3265,3265,3394 3.5 1 15 dbSNP_107 75 213,8387 89.2+/-151.4 3,207,4090 yes missense,missense,missense,missense VPS13C NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2 29,29,29,29 4,241,6258 CC,CT,TT 2.4767,0.8171,1.9145 benign,benign,benign,benign 1132/3629,1089/3711,1089/3586,1132/3754 62254989 249,12757 2203 4300 6503 SO:0001583 missense AJ608770 CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1 15q21.3 2009-07-09 2006-04-04 ENSG00000129003 ENSG00000129003 54832 23594 protein-coding gene gene with protein product 608879 vacuolar protein sorting 13C (yeast) NA Standard NM_017684 NM_018080 NA Approved FLJ20136, FLJ10381, KIAA1421 uc002agz.3 Q709C8 OTTHUMG00000132801 ENST00000261517.5:c.3394A>G chr15.hg19:g.62254989T>C ENSP00000261517:p.Ile1132Val NA hg19 CCDS32257.1 0.02 8.833329 TAAxATT COVERED 190 0.08699633699633699 2 0.0040650406504065045 43 0.11878453038674033 116 0.20279720279720279 29 0.03825857519788918 T 9.239 1.037820 0.19669 0.008171 0.024767 ENSG00000129003 ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898 T;T;T 0.42900 0.96;0.96;0.96 5.8 3.47 0.39725 . 0.221564 0.38897 N 0.001527 T 0.00039 0.0001 M 0.77486 2.375 0.31812 P 0.627054 B;B;B;B 0.32365 0.124;0.367;0.124;0.048 B;B;B;B 0.28232 0.038;0.087;0.065;0.025 T 0.11446 -1.0587 9 0.20519 T 0.43 . 6.7067 0.23254 0.1147:0.1287:0.0:0.7566 rs3784635;rs17304003;rs52829205;rs57619309;rs3784635 1089;1132;1089;1132 Q709C8-4;Q709C8-2;Q709C8-3;Q709C8 .;.;.;VP13C_HUMAN V 1089;1132;1132;1132 ENSP00000249837:I1089V;ENSP00000261517:I1132V;ENSP00000379233:I1132V ENSP00000249837:I1089V I - 1 0 VPS13C 60042281 1.000000 0.71417 1.000000 0.80357 0.282000 0.26991 1.378000 0.34328 0.444000 0.26612 -0.374000 0.07098 ATT NOVEL VPS13C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415997.1 1 18.052288 KEEP 0 0 0 60 1836 TT 1 1 0 - 8 60 304 0 0 19.139876 222 60 8184 387 ENST00000261517.5 0.034783 1 VPS13C 54832 __UNKNOWN__ __UNKNOWN__ 15 62316035 62316035 __UNKNOWN__ Missense_Mutation SNP C C T rs12595158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:62316035C>T ENST00000261517.5 - 7 531 c.458G>A c.(457-459)cGt>cAt p.R153H VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.R153H NM_020821.2 NP_065872.1 vacuolar protein sorting 13 homolog C (S. cerevisiae) NA NA NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GTGCTTTTTACGTTTACGTCC 0.328 NA C||| 535 0.106829 0.0446 0.2003 5008 , , NA 17797 0.2024 NA 0.0268 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 C HIS/ARG,,,HIS/ARG 236,4168 137.7+/-173.5 8,220,1974 116 115 116 458,,,458 5 1 15 dbSNP_120 116 188,8410 83.1+/-145.7 2,184,4113 yes missense,intron,intron,missense VPS13C NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2 29,,,29 10,404,6087 TT,TC,CC 2.1866,5.3588,3.261 probably-damaging,,,probably-damaging 153/3629,,,153/3754 62316035 424,12578 2202 4299 6501 SO:0001583 missense AJ608770 CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1 15q21.3 2009-07-09 2006-04-04 ENSG00000129003 ENSG00000129003 54832 23594 protein-coding gene gene with protein product 608879 vacuolar protein sorting 13C (yeast) NA Standard NM_017684 NM_018080 NA Approved FLJ20136, FLJ10381, KIAA1421 uc002agz.3 Q709C8 OTTHUMG00000132801 ENST00000261517.5:c.458G>A chr15.hg19:g.62316035C>T ENSP00000261517:p.Arg153His NA hg19 CCDS32257.1 0.02 4.534673 TTAxGTT COVERED 205 0.09386446886446886 18 0.036585365853658534 46 0.1270718232044199 115 0.20104895104895104 26 0.03430079155672823 C 14.40 2.524377 0.44969 0.053588 0.021866 ENSG00000129003 ENST00000261517;ENST00000395896;ENST00000395898 T;T 0.47869 0.83;1.0 4.98 4.98 0.66077 . 0.093464 0.42294 D 0.000734 T 0.00073 0.0002 N 0.22421 0.69 0.09310 P 0.9999999999994341 D;B 0.64830 0.994;0.297 P;B 0.51415 0.669;0.015 T 0.04840 -1.0923 9 0.72032 D 0.01 . 13.4529 0.61182 0.0:0.8414:0.1586:0.0 rs12595158;rs17304031;rs52803423;rs12595158 153;153 Q709C8-2;Q709C8 .;VP13C_HUMAN H 153 ENSP00000261517:R153H;ENSP00000379233:R153H ENSP00000261517:R153H R - 2 0 VPS13C 60103327 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.380000 0.34351 2.302000 0.77476 0.591000 0.81541 CGT NOVEL VPS13C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000415997.1 0 16.852598 KEEP 0 0 0 56 1910 CC 1 1 0 - 7 60 259 0 0 17.405516 123 60 4412 229 ENST00000261517.5 0.053846 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 62654213 62654213 __UNKNOWN__ IGR SNP G G A rs2414772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:62654213G>A NA NA RP11-299H22.7 (77008 upstream) : TLN2 (199350 downstream) NA NA NA CTGAGAAGACGTAGTGTAGGG 0.413 NA A||| 2048 0.408946 0.2882 0.3415 5008 , , NA 18207 0.6141 NA 0.3091 False NA ,,, NA NA NA 2504 0.5112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.62654213G>A NA hg19 0.02 -0.254407 GACxTAG COVERED NOVEL 0 0 3.30958 KEEP 0 0 0 11 356 GG 0.993072 0.663892 0 4 60 128 0 0 9.657989 25 60 903 53 0.137931 0.668523 TPM1 7168 __UNKNOWN__ __UNKNOWN__ 15 63341073 63341073 __UNKNOWN__ Intron SNP C C A rs11856618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:63341073C>A ENST00000357980.4 + 3 445 RP11-244F12.3_ENST00000560903.1_RNA|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000559281.1_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000403994.3_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000334895.5_Intron|TPM1_ENST00000559397.1_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000560959.1_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000317516.7_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000560445.1_Intron P09493 TPM1_HUMAN tropomyosin 1 (alpha) NA NA cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060) bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725) actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307) endometrium(1)|large_intestine(1)|lung(2) 4 TGGGGAGGGGCCCGGCCTGTT 0.667 NA C||| 616 0.123003 0.1755 0.0259 5008 , , NA 12992 0.1825 NA 0.0408 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB209041 CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1 15q22.1 2014-09-17 ENSG00000140416 ENSG00000140416 7168 Tropomyosins 12010 protein-coding gene gene with protein product 191010 chromosome 15 open reading frame 13, cardiomyopathy, hypertrophic 3 C15orf13, CMH3 NA 10343096, 8205619 Standard NM_001018004 XM_005254637 NA Approved uc002all.3 P09493 OTTHUMG00000132803 ENST00000357980.4:c.366+4722C>A chr15.hg19:g.63341073C>A NA B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427 hg19 0.02 5.620816 GGGxCCG COVERED NOVEL TPM1-008 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000417087.2 1 61.699355 KEEP 0 0 0 205 7312 CC 1 1 0 + 8 60 270 0 0 16.292865 191 60 6964 567 ENST00000357980.4 0.040201 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 63365394 63365394 __UNKNOWN__ IGR SNP C C T rs2134263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:63365394C>T NA NA TPM1 (1280 upstream) : RP11-69G7.1 (25674 downstream) NA NA NA agcaaaaccccgtctttacta 0.522 NA C||| 2344 0.468051 0.3464 0.3934 5008 , , NA 20365 0.5764 NA 0.5775 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.63365394C>T NA hg19 0.02 -0.02632 CCCxGTC UNCOVERED NOVEL 0 0 2.40785 KEEP 0 0 0 8 281 CC 0.99257 0 0 3 60 110 0 0 12.431049 0 0 0 15 1 0 APH1B 83464 __UNKNOWN__ __UNKNOWN__ 15 63578750 63578750 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:63578750A>T ENST00000261879.5 + 3 354 APH1B_ENST00000380343.4_Intron NM_001145646.1|NM_031301.3 NP_001139118.1|NP_112591.2 Q8WW43 APH1B_HUMAN APH1B gamma secretase subunit NA NA apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133) peptidase activity (GO:0008233) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 12 GTGTGGTTTTATTTTAGAAAA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 36 36 36 NA NA 15 NA 63578750 2203 4300 6503 SO:0001627 intron_variant AY358698 CCDS10184.1, CCDS45276.1 15q22.2 2013-05-01 2013-05-01 ENSG00000138613 ENSG00000138613 83464 24080 protein-coding gene gene with protein product 607630 anterior pharynx defective 1 homolog B (C. elegans) NA 12110170, 11230166 Standard NM_031301 NM_031301 NA Approved PSFL, APH-1B, DKFZp564D0372 uc002ama.3 Q8WW43 OTTHUMG00000132863 ENST00000261879.5:c.285-7A>T chr15.hg19:g.63578750A>T NA A8K589|Q564N3|Q6UWQ1|Q9H0S0 hg19 CCDS10184.1 0.02 2.2628 TTTxTTT COVERED NOVEL APH1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256337.1 2 5.152267 KEEP 0 5 58 39 1112 AA 1 1 0 + 11 60 203 0 0 9.423072 129 60 4048 293 ENST00000261879.5 0.078571 1 CA12 771 __UNKNOWN__ __UNKNOWN__ 15 63674295 63674295 __UNKNOWN__ 5'UTR SNP T T C rs28372792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:63674295T>C ENST00000178638.3 - 0 65 NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII NA NA bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909) GATCCGCCTGTCTCACATCCA 0.627 NA C||| 2859 0.570887 0.6891 0.4496 5008 , , NA 15714 0.3343 NA 0.7276 False NA ,,, NA NA NA 2504 0.5798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF051882 CCDS10185.1, CCDS10186.1 15q22 2004-01-19 ENSG00000074410 ENSG00000074410 771 Carbonic anhydrases 1371 protein-coding gene gene with protein product 603263 NA 9636197 Standard NM_001218 NM_001218 NA Approved HsT18816 uc002amc.3 O43570 OTTHUMG00000132881 ENST00000178638.3:c.-376A>G chr15.hg19:g.63674295T>C NA B2RE24|Q53YE5|Q9BWG2 hg19 CCDS10185.1 0.02 12.540692 CTGxCTC COVERED NOVEL CA12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256370.1 1 3.815971 KEEP 0 3 104 49 1524 TT 1 1 0 - 11 60 353 0 0 20.36417 307 60 10946 456 ENST00000178638.3 0.034591 1 CSNK1G1 53944 __UNKNOWN__ __UNKNOWN__ 15 64558040 64558040 __UNKNOWN__ Intron SNP C C G rs62021612 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:64558040C>G ENST00000607537.1 - 3 591 CSNK1G1_ENST00000303032.6_Intron|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.A9P|CSNK1G1_ENST00000303052.7_Intron Q9HCP0 KC1G1_HUMAN casein kinase 1, gamma 1 NA NA Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 13 agcactttagcaggaggccaa 0.408 NA G||| 955 0.190695 0.4319 0.085 5008 , , NA 18028 0.0645 NA 0.1064 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB042562 CCDS10192.2 15q22.1-q22.31 2013-01-17 ENSG00000169118 ENSG00000169118 53944 2454 protein-coding gene gene with protein product 606274 NA 11124537 Standard NM_022048 NM_022048 NA Approved CK1gamma1 uc002anf.3 Q9HCP0 OTTHUMG00000133019 ENST00000607537.1:c.182-6600G>C chr15.hg19:g.64558040C>G NA Q5JPH1|Q96AE9|Q9HCP1 hg19 0.02 2.199783 TAGxAGG COVERED NOVEL CSNK1G1-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000471411.1 2 8.427704 KEEP 0 0 0 28 1008 CC 0.999997 0.995081 0 - 6 60 211 0 0 15.192819 61 60 2289 115 ENST00000607537.1 0.089552 0.995084 PLEKHO2 80301 __UNKNOWN__ __UNKNOWN__ 15 65159458 65159458 __UNKNOWN__ 3'UTR SNP T T C rs1043697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65159458T>C ENST00000323544.4 + 0 2972 AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 NA NA NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 GCCTTTCTGCTCTGTTCCCCA 0.507 NA C||| 4048 0.808307 0.8956 0.7709 5008 , , NA 21547 0.9335 NA 0.5716 False NA ,,, NA NA NA 2504 0.8313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF318373 CCDS10196.1, CCDS73739.1 15q22.31 2013-01-10 2007-12-14 2007-12-14 ENSG00000241839 ENSG00000241839 80301 Pleckstrin homology (PH) domain containing 30026 protein-coding gene gene with protein product pleckstrin homology domain containing, family Q member 1 PLEKHQ1 NA 12477932 Standard NM_025201 NM_025201 NA Approved DKFZp761K2312, PP1628, pp9099 uc002anv.3 Q8TD55 OTTHUMG00000133050 ENST00000323544.4:c.*1371T>C chr15.hg19:g.65159458T>C NA Q7L4H4|Q8WYS8 hg19 CCDS10196.1 0.02 8.558143 TGCxCTG COVERED NOVEL PLEKHO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256659.1 2 28.583078 KEEP 0 0 0 95 2996 TT 1 1 0 + 11 60 398 0 0 25.464634 239 60 8781 423 ENST00000323544.4 0.044 1 ANKDD1A 348094 __UNKNOWN__ __UNKNOWN__ 15 65236875 65236875 __UNKNOWN__ Silent SNP T T C rs2414865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65236875T>C ENST00000380230.3 + 12 1121 c.1092T>C c.(1090-1092)gcT>gcC p.A364A ANKDD1A_ENST00000395723.1_Intron|ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395720.1_Silent_p.A364A NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 364 NA signal transduction (GO:0007165) NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 TGGCAGTGGCTGTCCGCAGCA 0.517 NA C||| 2769 0.552915 0.7489 0.3573 5008 , , NA 19859 0.3909 NA 0.4463 False NA ,,, NA NA NA 2504 0.7035 NA NA NA NA 0 C 3150,1254 429.9+/-342.4 1130,890,182 77 68 71 1092 -3 0.9 15 dbSNP_100 71 3963,4635 600.8+/-394.3 930,2103,1266 no coding-synonymous ANKDD1A NM_182703.3 2060,2993,1448 CC,CT,TT 46.0921,28.4741,45.293 364/523 65236875 7113,5889 2202 4299 6501 SO:0001819 synonymous_variant CCDS10197.2 15q22.31 2013-01-10 2006-02-16 ENSG00000166839 ENSG00000166839 348094 Ankyrin repeat domain containing 28002 protein-coding gene gene with protein product NA 12477932 Standard NM_182703 NM_182703 NA Approved FLJ25870 uc002aoa.3 Q495B1 OTTHUMG00000133051 ENST00000380230.3:c.1092T>C chr15.hg19:g.65236875T>C NA Q495B2|Q495B3|Q8N7A0|Q8NBS5 hg19 CCDS10197.2 0.02 2.110016 GGCxGTC COVERED NOVEL ANKDD1A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256705.2 0 7.158074 KEEP 0 1 38 37 1178 TT 1 0.999962 0 + 5 60 185 0 0 12.267354 95 60 3598 175 ENST00000380230.3 0.05 0.999962 RASL12 51285 __UNKNOWN__ __UNKNOWN__ 15 65347405 65347405 __UNKNOWN__ Silent SNP G G A rs2232762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65347405G>A ENST00000220062.4 - 5 909 c.633C>T c.(631-633)acC>acT p.T211T RASL12_ENST00000421977.3_Silent_p.T192T|RASL12_ENST00000434605.2_Silent_p.T200T NM_016563.2 NP_057647.1 Q9NYN1 RASLC_HUMAN RAS-like, family 12 211 NA GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) membrane (GO:0016020) GTP binding (GO:0005525) lung(1)|ovary(1)|skin(1)|urinary_tract(1) 4 CATGCCGCGCGGTGAGCGGGG 0.677 NA G||| 2122 0.423722 0.1876 0.5202 5008 , , NA 17548 0.7837 NA 0.4095 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 G 1076,3324 371.0+/-319.8 136,804,1260 26 24 25 633 -10.5 0 15 dbSNP_98 25 3422,5176 475.0+/-369.0 689,2044,1566 no coding-synonymous RASL12 NM_016563.2 825,2848,2826 AA,AG,GG 39.8,24.4545,34.6053 211/267 65347405 4498,8500 2200 4299 6499 SO:0001819 synonymous_variant AF233588 CCDS10200.1 15q11.2-q22.33 2014-05-09 ENSG00000103710 ENSG00000103710 51285 30289 protein-coding gene gene with protein product Ras family member Ris NA 12107412 Standard NM_016563 NM_016563 NA Approved RIS uc002aoi.1 Q9NYN1 OTTHUMG00000133115 ENST00000220062.4:c.633C>T chr15.hg19:g.65347405G>A NA B2RC29|B4DJW2|B4DU82 hg19 CCDS10200.1 0.02 6.848781 CGCxGTG COVERED NOVEL RASL12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256782.2 1 26.313435 KEEP 0 1 30 98 3288 GG 1 1 0 - 12 60 399 0 0 26.494693 171 60 6006 335 ENST00000220062.4 0.065574 1 KBTBD13 390594 __UNKNOWN__ __UNKNOWN__ 15 65369395 65369395 __UNKNOWN__ Missense_Mutation SNP C C T rs2919358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65369395C>T ENST00000432196.2 + 1 242 c.242C>T c.(241-243)gCc>gTc p.A81V NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 81 NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) lung(1)|prostate(1)|skin(1) 3 CTGCTGCAGGCCGTGGAGTGC 0.736 NA C||| 2613 0.521765 0.6036 0.5447 5008 , , NA 9840 0.7312 NA 0.3887 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 C VAL/ALA 1463,1441 405,653,394 2 3 2 242 4.6 1 15 dbSNP_101 2 2172,4110 500,1172,1469 no missense KBTBD13 NM_001101362.2 64 905,1825,1863 TT,TC,CC 34.575,49.6212,39.5711 possibly-damaging 81/459 65369395 3635,5551 1452 3141 4593 SO:0001583 missense CCDS45281.1 15q22.31 2014-09-17 ENSG00000234438 ENSG00000234438 390594 BTB/POZ domain containing 37227 protein-coding gene gene with protein product nemaline myopathy type 6 613727 NA 21109227, 22542517 Standard NM_001101362 NM_001101362 NA Approved hCG_1645727, NEM6 uc010uis.2 C9JR72 ENST00000432196.2:c.242C>T chr15.hg19:g.65369395C>T ENSP00000388723:p.Ala81Val NA hg19 CCDS45281.1 0.02 6.041987 AGGxCGT COVERED 1197 0.5480769230769231 302 0.6138211382113821 191 0.5276243093922652 410 0.7167832167832168 294 0.38786279683377306 C 20.9 4.061996 0.76187 0.503788 0.34575 ENSG00000234438 ENST00000432196 T 0.67865 -0.29 4.6 4.6 0.57074 BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2); . . . . T 0.00012 0.0000 N 0.21324 0.655 0.22629 P 0.99891774 P 0.47034 0.889 P 0.50896 0.653 T 0.37753 -0.9692 8 0.26408 T 0.33 . 17.2241 0.86964 0.0:1.0:0.0:0.0 rs2919358 81 C9JR72 KBTBD_HUMAN V 81 ENSP00000388723:A81V ENSP00000388723:A81V A + 2 0 KBTBD13 63156448 1.000000 0.71417 0.996000 0.52242 0.931000 0.56810 7.251000 0.78297 2.390000 0.81377 0.650000 0.86243 GCC NOVEL KBTBD13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418468.2 0 37.8588 KEEP 0 0 0 126 4446 CC 1 1 0 + 10 60 317 0 0 20.517925 141 60 5001 355 ENST00000432196.2 0.066225 1 KBTBD13 390594 __UNKNOWN__ __UNKNOWN__ 15 65369531 65369531 __UNKNOWN__ Silent SNP G G T rs2946642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65369531G>T ENST00000432196.2 + 1 378 c.378G>T c.(376-378)gcG>gcT p.A126A NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 126 NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) lung(1)|prostate(1)|skin(1) 3 ACAGTGCCGCGCTCTTCATCT 0.716 NA G||| 2512 0.501597 0.531 0.5403 5008 , , NA 9855 0.7302 NA 0.3877 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 G 1399,1573 380,639,467 2 2 2 378 -0.2 1 15 dbSNP_101 2 2035,4139 455,1125,1507 no coding-synonymous KBTBD13 NM_001101362.2 835,1764,1974 TT,TG,GG 32.9608,47.0727,37.5465 126/459 65369531 3434,5712 1486 3087 4573 SO:0001819 synonymous_variant CCDS45281.1 15q22.31 2014-09-17 ENSG00000234438 ENSG00000234438 390594 BTB/POZ domain containing 37227 protein-coding gene gene with protein product nemaline myopathy type 6 613727 NA 21109227, 22542517 Standard NM_001101362 NM_001101362 NA Approved hCG_1645727, NEM6 uc010uis.2 C9JR72 ENST00000432196.2:c.378G>T chr15.hg19:g.65369531G>T NA hg19 CCDS45281.1 0.02 6.939589 CGCxCTC COVERED NOVEL KBTBD13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418468.2 1 31.297124 KEEP 0 0 0 104 3529 GG 1 1 0 + 11 60 399 0 0 28.078724 139 60 4857 306 ENST00000432196.2 0.073333 1 KBTBD13 390594 __UNKNOWN__ __UNKNOWN__ 15 65369951 65369951 __UNKNOWN__ Silent SNP A A G rs2919359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65369951A>G ENST00000432196.2 + 1 798 c.798A>G c.(796-798)gaA>gaG p.E266E NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 266 NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) lung(1)|prostate(1)|skin(1) 3 TCGGCGGCGAATTCCAGAGGA 0.731 NA g||| 4526 0.903754 0.9107 0.866 5008 , , NA 11604 0.9831 NA 0.8439 False NA ,,, NA NA NA 2504 0.9008 NA NA NA NA 0 3216,294 1470,276,9 4 6 6 798 3.4 0.9 15 dbSNP_101 6 6735,1057 2913,909,74 no coding-synonymous KBTBD13 NM_001101362.2 4383,1185,83 GG,GA,AA 13.5652,8.3761,11.9536 266/459 65369951 9951,1351 1755 3896 5651 SO:0001819 synonymous_variant CCDS45281.1 15q22.31 2014-09-17 ENSG00000234438 ENSG00000234438 390594 BTB/POZ domain containing 37227 protein-coding gene gene with protein product nemaline myopathy type 6 613727 NA 21109227, 22542517 Standard NM_001101362 NM_001101362 NA Approved hCG_1645727, NEM6 uc010uis.2 C9JR72 ENST00000432196.2:c.798A>G chr15.hg19:g.65369951A>G NA hg19 CCDS45281.1 0.02 8.715999 CGAxTTC COVERED NOVEL KBTBD13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418468.2 1 49.346789 KEEP 0 1 36 177 5288 AA 1 1 0 + 10 60 369 0 0 24.059511 208 60 7072 536 ENST00000432196.2 0.045872 1 CILP 8483 __UNKNOWN__ __UNKNOWN__ 15 65489128 65489128 __UNKNOWN__ Missense_Mutation SNP C C T rs938952 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:65489128C>T ENST00000261883.4 - 9 3662 c.3496G>A c.(3496-3498)Ggt>Agt p.G1166S NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1166 NA G -> S (in dbSNP:rs938952). {ECO:0000269|PubMed:10319588, ECO:0000269|PubMed:10601732, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9722584}. negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569) extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 ACCACTCCACCCTGGCGCTGG 0.592 NA T||| 4035 0.805711 0.5749 0.8718 5008 , , NA 18629 0.9921 NA 0.8022 False NA ,,, NA NA NA 2504 0.8824 NA NA NA NA 0 T SER/GLY 2628,1776 524.1+/-371.2 789,1050,363 40 41 40 3496 3.5 0 15 dbSNP_86 40 6879,1719 310.9+/-310.1 2764,1351,184 yes missense CILP NM_003613.3 56 3553,2401,547 TT,TC,CC 19.993,40.327,26.8805 benign 1166/1185 65489128 9507,3495 2202 4299 6501 SO:0001583 missense AY358904 CCDS10203.1 15q22 2013-01-14 ENSG00000138615 ENSG00000138615 8483 Immunoglobulin superfamily / Immunoglobulin-like domain containing 1980 protein-coding gene gene with protein product 603489 NA 9722584, 9722583 Standard NM_003613 NM_003613 NA Approved HsT18872 uc002aon.2 O75339 OTTHUMG00000133140 ENST00000261883.4:c.3496G>A chr15.hg19:g.65489128C>T ENSP00000261883:p.Gly1166Ser NA B2R8F7|Q6UW99|Q8IYI5 hg19 CCDS10203.1 0.02 13.559559 CACxCTG COVERED 1761 0.8063186813186813 285 0.5792682926829268 305 0.8425414364640884 570 0.9965034965034965 601 0.7928759894459103 T 0.818 -0.749557 0.03065 0.59673 0.80007 ENSG00000138615 ENST00000261883 T 0.35605 1.3 5.32 3.46 0.39613 . 0.732829 0.12612 N 0.453819 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.21109 -1.0255 9 0.46703 T 0.11 0.0654 4.8948 0.13744 0.0777:0.2955:0.49:0.1368 rs938952;rs17846155;rs17859163;rs60963972;rs938952 1166 O75339 CILP1_HUMAN S 1166 ENSP00000261883:G1166S ENSP00000261883:G1166S G - 1 0 CILP 63276181 0.027000 0.19231 0.003000 0.11579 0.001000 0.01503 1.396000 0.34531 0.262000 0.21774 -0.902000 0.02854 GGT NOVEL CILP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256829.1 1 27.96955 KEEP 0 0 0 93 3269 CC 1 1 0 - 18 60 662 0 0 44.538616 309 60 11373 505 ENST00000261883.4 0.055046 1 DIS3L 115752 __UNKNOWN__ __UNKNOWN__ 15 66618342 66618342 __UNKNOWN__ Missense_Mutation SNP A A G rs3803412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66618342A>G ENST00000319212.4 + 12 1891 c.1841A>G c.(1840-1842)gAt>gGt p.D614G DIS3L_ENST00000319194.5_Missense_Mutation_p.D531G|RP11-352G18.2_ENST00000565993.1_RNA NM_001143688.1 NP_001137160.1 Q8TF46 DI3L1_HUMAN DIS3 like exosome 3'-5' exoribonuclease 614 NA D -> G (in dbSNP:rs3803412). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075) cytoplasmic exosome (RNase complex) (GO:0000177) 3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AAAGACTTGGATGAGAAGAGC 0.453 NA A||| 1258 0.251198 0.0953 0.3199 5008 , , NA 19288 0.3165 NA 0.2952 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 0 A GLY/ASP,GLY/ASP 608,3794 264.7+/-266.2 35,538,1628 121 113 116 1841,1592 5.3 0.7 15 dbSNP_107 116 2617,5981 423.7+/-354.4 397,1823,2079 yes missense,missense DIS3L NM_001143688.1,NM_133375.3 94,94 432,2361,3707 GG,GA,AA 30.4373,13.8119,24.8077 benign,benign 614/1055,531/972 66618342 3225,9775 2201 4299 6500 SO:0001583 missense CCDS10214.1, CCDS45286.1 15q22.31 2014-03-05 2014-03-05 ENSG00000166938 ENSG00000166938 115752 28698 protein-coding gene gene with protein product 614183 DIS3 mitotic control homolog (S. cerevisiae)-like NA 20531386 Standard NM_133375 NM_001143688 NA Approved MGC4562, FLJ38088, KIAA1955, DIS3L1 uc010ujm.2 Q8TF46 OTTHUMG00000133181 ENST00000319212.4:c.1841A>G chr15.hg19:g.66618342A>G ENSP00000321711:p.Asp614Gly NA Q8N1N8|Q8WTU9|Q96CM7 hg19 CCDS45286.1 0.02 12.322021 TGGxTGA COVERED 551 0.2522893772893773 46 0.09349593495934959 106 0.292817679558011 172 0.3006993006993007 227 0.2994722955145119 A 9.152 1.016533 0.19355 0.138119 0.304373 ENSG00000166938 ENST00000319194;ENST00000319212 T;T 0.25250 1.81;1.81 5.31 5.31 0.75309 Ribonuclease II/R (2); 0.391663 0.30999 N 0.008458 T 0.00012 0.0000 N 0.04043 -0.29 0.09310 P 1.0 B;B;B 0.09022 0.002;0.0;0.001 B;B;B 0.11329 0.006;0.003;0.003 T 0.41088 -0.9528 9 0.36615 T 0.2 -17.8793 14.4288 0.67236 1.0:0.0:0.0:0.0 rs3803412;rs52810111;rs3803412 614;480;614 Q8TF46;Q8TF46-2;Q8TF46-3 DI3L1_HUMAN;.;. G 531;614 ENSP00000321583:D531G;ENSP00000321711:D614G ENSP00000321583:D531G D + 2 0 DIS3L 64405396 1.000000 0.71417 0.712000 0.30502 0.337000 0.28794 4.706000 0.61845 1.991000 0.58162 0.379000 0.24179 GAT NOVEL DIS3L-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000382792.2 2 15.947557 KEEP 0 0 0 53 1656 AA 1 1 0 + 12 60 416 0 0 25.315478 297 60 10360 446 ENST00000319212.4 0.038835 1 MAP2K1 5604 __UNKNOWN__ __UNKNOWN__ 15 66679577 66679577 __UNKNOWN__ 5'UTR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66679577C>A ENST00000307102.5 + 0 423 NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 Bosutinib(DB06616)|Trametinib(DB08911) Agccccggggcccgcggcccg 0.786 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant L11284 CCDS10216.1 15q22.1-q22.33 2014-09-17 ENSG00000169032 ENSG00000169032 5604 2.7.12.2 Mitogen-activated protein kinase cascade / Kinase kinases 6840 protein-coding gene gene with protein product 176872 PRKMK1 NA 9465908, 8388392 Standard NM_002755 NA Approved MEK1, MAPKK1 uc010bhq.3 Q02750 OTTHUMG00000133196 ENST00000307102.5:c.-109C>A chr15.hg19:g.66679577C>A NA hg19 CCDS10216.1 0.02 -0.392033 GGGxCCG COVERED NOVEL MAP2K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256906.4 1 7.416354 KEEP 0 0 0 25 576 CC 0.999931 0.934428 0 + 8 60 116 0 0 6.539108 38 60 967 78 ENST00000307102.5 0.173913 0.934492 MAP2K1 5604 __UNKNOWN__ __UNKNOWN__ 15 66694420 66694420 __UNKNOWN__ Intron SNP A A T rs74326592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66694420A>T ENST00000307102.5 + 1 611 NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 Bosutinib(DB06616)|Trametinib(DB08911) TTTATAAATGATGTGGTTACT 0.249 NA A||| 366 0.0730831 0.0045 0.0504 5008 , , NA 18778 0.1865 NA 0.0487 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L11284 CCDS10216.1 15q22.1-q22.33 2014-09-17 ENSG00000169032 ENSG00000169032 5604 2.7.12.2 Mitogen-activated protein kinase cascade / Kinase kinases 6840 protein-coding gene gene with protein product 176872 PRKMK1 NA 9465908, 8388392 Standard NM_002755 NA Approved MEK1, MAPKK1 uc010bhq.3 Q02750 OTTHUMG00000133196 ENST00000307102.5:c.80+14655A>T chr15.hg19:g.66694420A>T NA hg19 CCDS10216.1 0.02 3.841609 ATGxTGT COVERED NOVEL MAP2K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256906.4 2 3.008713 KEEP 0 0 0 10 299 AA 0.992708 0.992706 0 + 7 60 249 0 0 16.708249 111 60 4095 128 ENST00000307102.5 0.059322 0.999998 MAP2K1 5604 __UNKNOWN__ __UNKNOWN__ 15 66727597 66727597 __UNKNOWN__ Intron SNP G G C rs16949924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66727597G>C ENST00000307102.5 + 2 822 NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 NA NA activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728) endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 Bosutinib(DB06616)|Trametinib(DB08911) TTGATTAACAGGTAATTGGAT 0.468 NA G||| 1356 0.270767 0.0991 0.3401 5008 , , NA 19622 0.3155 NA 0.3241 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 G 668,3734 280.8+/-275.6 41,586,1574 57 54 55 0.6 0 15 dbSNP_123 55 2883,5715 447.9+/-361.7 480,1923,1896 no intron MAP2K1 NM_002755.3 521,2509,3470 CC,CG,GG 33.5311,15.1749,27.3154 66727597 3551,9449 2201 4299 6500 SO:0001627 intron_variant L11284 CCDS10216.1 15q22.1-q22.33 2014-09-17 ENSG00000169032 ENSG00000169032 5604 2.7.12.2 Mitogen-activated protein kinase cascade / Kinase kinases 6840 protein-coding gene gene with protein product 176872 PRKMK1 NA 9465908, 8388392 Standard NM_002755 NA Approved MEK1, MAPKK1 uc010bhq.3 Q02750 OTTHUMG00000133196 ENST00000307102.5:c.291+22G>C chr15.hg19:g.66727597G>C NA hg19 CCDS10216.1 0.02 5.155299 ACAxGTA COVERED NOVEL MAP2K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256906.4 0 4.249088 KEEP 0 1 34 26 898 GG 0.999988 0.999988 0 + 7 60 227 0 0 13.136361 177 60 6532 242 ENST00000307102.5 0.038043 1 RPL4 6124 __UNKNOWN__ __UNKNOWN__ 15 66791601 66791601 __UNKNOWN__ 3'UTR SNP A A G rs28708806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66791601A>G ENST00000307961.6 - 0 1520 NM_000968.3 NP_000959.2 P36578 RL4_HUMAN ribosomal protein L4 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 ATTATGGCCAACAAAATGTCA 0.348 NA A||| 1378 0.27516 0.1097 0.3473 5008 , , NA 18207 0.3185 NA 0.3201 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB007167 CCDS10218.1 15q22 2011-04-06 ENSG00000174444 ENSG00000174444 6124 L ribosomal proteins 10353 protein-coding gene gene with protein product 60S ribosomal protein L4 180479 NA 9582194, 8268230 Standard NM_000968 NM_000968 NA Approved L4 uc002apv.3 P36578 OTTHUMG00000133193 ENST00000307961.6:c.*144T>C chr15.hg19:g.66791601A>G NA A8K502|P39029|Q4VBR0|Q969Z9 hg19 CCDS10218.1 0.02 7.077957 CCAxCAA COVERED NOVEL RPL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256903.2 2 19.82764 KEEP 0 2 75 92 2869 AA 1 1 0 - 11 60 423 0 0 29.253528 181 60 6445 350 ENST00000307961.6 0.057292 1 RPL4 6124 __UNKNOWN__ __UNKNOWN__ 15 66792761 66792761 __UNKNOWN__ Intron SNP A A G rs28706938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66792761A>G ENST00000568588.1 - 9 1329 RPL4_ENST00000307961.6_Intron P36578 RL4_HUMAN ribosomal protein L4 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 AATCAACCAAAGAACAGGAAG 0.393 NA a||| 1689 0.33726 0.2148 0.4611 5008 , , NA 20566 0.3998 NA 0.326 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 1084,3318 355.6+/-313.1 133,818,1250 45 44 45 1.2 0 15 dbSNP_125 45 2867,5731 414.4+/-351.5 483,1901,1915 no intron RPL4 NM_000968.3 616,2719,3165 GG,GA,AA 33.345,24.6252,30.3923 66792761 3951,9049 2201 4299 6500 SO:0001627 intron_variant AB007167 CCDS10218.1 15q22 2011-04-06 ENSG00000174444 ENSG00000174444 6124 L ribosomal proteins 10353 protein-coding gene gene with protein product 60S ribosomal protein L4 180479 NA 9582194, 8268230 Standard NM_000968 NM_000968 NA Approved L4 uc002apv.3 P36578 OTTHUMG00000133193 ENST00000568588.1:c.552-47T>C chr15.hg19:g.66792761A>G NA A8K502|P39029|Q4VBR0|Q969Z9 hg19 0.02 6.878031 CAAxGAA COVERED NOVEL RPL4-020 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000420737.1 5 26.117248 KEEP 0 1 35 99 3249 AA 1 1 0 - 10 60 372 0 0 24.916198 182 60 6827 374 ENST00000568588.1 0.052083 1 RPL4 6124 __UNKNOWN__ __UNKNOWN__ 15 66797492 66797492 __UNKNOWN__ Intron SNP G G A rs3087660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66797492G>A ENST00000568588.1 - 2 499 ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000307897.5_5'UTR|ZWILCH_ENST00000446801.2_5'UTR P36578 RL4_HUMAN ribosomal protein L4 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1) 17 GGAAGTTGAAGACTATTGACA 0.463 NA G||| 3238 0.646565 0.7171 0.6441 5008 , , NA 16949 0.5833 NA 0.5775 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007167 CCDS10218.1 15q22 2011-04-06 ENSG00000174444 ENSG00000174444 6124 L ribosomal proteins 10353 protein-coding gene gene with protein product 60S ribosomal protein L4 180479 NA 9582194, 8268230 Standard NM_000968 NM_000968 NA Approved L4 uc002apv.3 P36578 OTTHUMG00000133193 ENST00000568588.1:c.279+173C>T chr15.hg19:g.66797492G>A NA A8K502|P39029|Q4VBR0|Q969Z9 hg19 0.02 4.287692 GAAxACT COVERED NOVEL RPL4-020 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000420737.1 2 29.117637 KEEP 0 1 32 108 3774 GG 1 0.999999 0 - 10 60 352 0 0 24.891817 114 60 4299 306 ENST00000568588.1 0.080645 0.999999 ZWILCH 55055 __UNKNOWN__ __UNKNOWN__ 15 66821174 66821174 __UNKNOWN__ Intron SNP G G C rs6494580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:66821174G>C ENST00000307897.5 + 11 1349 ZWILCH_ENST00000535141.2_Intron|ZWILCH_ENST00000565627.1_Intron|ZWILCH_ENST00000446801.2_Intron NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein NA NA mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067) cytosol (GO:0005829)|kinetochore (GO:0000776) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 TTCTCTGAAGGTTGCTTCTTT 0.378 NA C||| 4643 0.927117 0.9909 0.879 5008 , , NA 17052 0.9335 NA 0.8668 False NA ,,, NA NA NA 2504 0.9305 NA NA NA NA 0 C 4261,141 99.4+/-138.0 2063,135,3 73 68 70 -1 0 15 dbSNP_116 70 7192,1406 269.8+/-288.6 3008,1176,115 no intron ZWILCH NM_017975.3 5071,1311,118 CC,CG,GG 16.3526,3.2031,11.9 66821174 11453,1547 2201 4299 6500 SO:0001627 intron_variant AK023175 CCDS10219.1, CCDS73746.1 15q22.31 2013-01-17 2012-12-13 ENSG00000174442 ENSG00000174442 55055 25468 protein-coding gene gene with protein product 609984 Zwilch, kinetochore associated, homolog (Drosophila) NA 12686595 Standard NM_017975 NM_017975 NA Approved FLJ10036, KNTC1AP uc002aqb.3 Q9H900 OTTHUMG00000133194 ENST00000307897.5:c.970-16G>C chr15.hg19:g.66821174G>C NA B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7 hg19 CCDS10219.1 0.02 6.233647 AAGxTTG COVERED NOVEL ZWILCH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256904.4 2 13.544655 KEEP 0 0 0 45 1633 GG 1 1 0 + 9 60 311 0 0 19.766925 177 60 6489 302 ENST00000307897.5 0.048387 1 SMAD3 4088 __UNKNOWN__ __UNKNOWN__ 15 67483276 67483276 __UNKNOWN__ 3'UTR SNP C C T rs8025774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67483276C>T ENST00000327367.4 + 0 1990 NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CTTGGAAGGGCGTTCTAGGTA 0.557 NA C||| 1260 0.251597 0.0461 0.3746 5008 , , NA 13972 0.4325 NA 0.2167 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC050743 CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1 15q21-q22 2006-11-06 2006-11-06 2004-05-26 ENSG00000166949 ENSG00000166949 4088 SMADs 6769 protein-coding gene gene with protein product 603109 MAD, mothers against decapentaplegic homolog 3 (Drosophila), SMAD, mothers against DPP homolog 3 (Drosophila) MADH3 NA 8774881, 8673135 Standard NM_005902 NM_001145102 NA Approved JV15-2, HsT17436 uc002aqj.3 P84022 OTTHUMG00000133230 ENST00000327367.4:c.*402C>T chr15.hg19:g.67483276C>T NA A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4 hg19 CCDS10222.1 0.02 4.214211 GGGxGTT COVERED NOVEL SMAD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256967.2 1 26.182909 KEEP 0 0 0 87 3008 CC 1 1 0 + 9 60 305 0 0 20.197977 135 60 4517 302 ENST00000327367.4 0.0625 1 SMAD3 4088 __UNKNOWN__ __UNKNOWN__ 15 67484119 67484119 __UNKNOWN__ 3'UTR SNP G G A rs8031627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67484119G>A ENST00000327367.4 + 0 2833 NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) AAAATTGCAGGCTTGGTACAA 0.403 NA G||| 1266 0.252796 0.0461 0.379 5008 , , NA 17429 0.4325 NA 0.2177 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC050743 CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1 15q21-q22 2006-11-06 2006-11-06 2004-05-26 ENSG00000166949 ENSG00000166949 4088 SMADs 6769 protein-coding gene gene with protein product 603109 MAD, mothers against decapentaplegic homolog 3 (Drosophila), SMAD, mothers against DPP homolog 3 (Drosophila) MADH3 NA 8774881, 8673135 Standard NM_005902 NM_001145102 NA Approved JV15-2, HsT17436 uc002aqj.3 P84022 OTTHUMG00000133230 ENST00000327367.4:c.*1245G>A chr15.hg19:g.67484119G>A NA A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4 hg19 CCDS10222.1 0.02 3.9693 CAGxCTT COVERED NOVEL SMAD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256967.2 0 21.40432 KEEP 0 1 31 82 2925 GG 1 1 0 + 8 60 293 0 0 19.583061 141 60 5245 296 ENST00000327367.4 0.053691 1 SMAD3 4088 __UNKNOWN__ __UNKNOWN__ 15 67484297 67484297 __UNKNOWN__ 3'UTR SNP C C T rs2278670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67484297C>T ENST00000327367.4 + 0 3011 NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) AAAGAGTCCTCTTCTTTTCCC 0.373 NA C||| 1266 0.252796 0.0461 0.3746 5008 , , NA 19569 0.4365 NA 0.2167 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC050743 CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1 15q21-q22 2006-11-06 2006-11-06 2004-05-26 ENSG00000166949 ENSG00000166949 4088 SMADs 6769 protein-coding gene gene with protein product 603109 MAD, mothers against decapentaplegic homolog 3 (Drosophila), SMAD, mothers against DPP homolog 3 (Drosophila) MADH3 NA 8774881, 8673135 Standard NM_005902 NM_001145102 NA Approved JV15-2, HsT17436 uc002aqj.3 P84022 OTTHUMG00000133230 ENST00000327367.4:c.*1423C>T chr15.hg19:g.67484297C>T NA A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4 hg19 CCDS10222.1 0.02 4.662755 CCTxTTC COVERED NOVEL SMAD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256967.2 1 13.678663 KEEP 0 1 30 56 1978 CC 1 0.999981 0 + 7 60 251 0 0 17.304505 97 60 3694 201 ENST00000327367.4 0.067308 0.999981 AAGAB 79719 __UNKNOWN__ __UNKNOWN__ 15 67494823 67494823 __UNKNOWN__ 3'UTR SNP G G C rs10518716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67494823G>C ENST00000561452.1 - 0 1472 AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000261880.5_3'UTR Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein NA NA protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 CTACTTAAAAGGTTGACCAGG 0.413 NA G||| 1318 0.263179 0.0764 0.3761 5008 , , NA 18776 0.4405 NA 0.2157 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136715 CCDS42050.1, CCDS61679.1 15q22.33-q23 2014-02-12 2009-07-20 ENSG00000103591 ENSG00000103591 79719 25662 protein-coding gene gene with protein product 614888 NA 11230166, 10477754 Standard NM_024666 NM_024666 NA Approved FLJ11506, p34 uc002aqk.5 Q6PD74 OTTHUMG00000172246 ENST00000561452.1:c.*336C>G chr15.hg19:g.67494823G>C NA B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0 hg19 0.02 4.331557 AAAxGTT COVERED NOVEL AAGAB-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417474.1 0 13.578025 KEEP 0 1 28 55 1946 GG 1 0.999998 0 - 5 60 180 0 0 11.381913 114 60 4270 209 ENST00000561452.1 0.042017 0.999998 AAGAB 79719 __UNKNOWN__ __UNKNOWN__ 15 67519040 67519040 __UNKNOWN__ Intron SNP C C T rs8031500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67519040C>T ENST00000561452.1 - 5 724 AAGAB_ENST00000542650.1_Intron|AAGAB_ENST00000261880.5_Intron Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein NA NA protein transport (GO:0015031) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 ctatttttttcctttggttgc 0.289 NA T||| 1422 0.283946 0.1384 0.3862 5008 , , NA 16742 0.4534 NA 0.2197 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136715 CCDS42050.1, CCDS61679.1 15q22.33-q23 2014-02-12 2009-07-20 ENSG00000103591 ENSG00000103591 79719 25662 protein-coding gene gene with protein product 614888 NA 11230166, 10477754 Standard NM_024666 NM_024666 NA Approved FLJ11506, p34 uc002aqk.5 Q6PD74 OTTHUMG00000172246 ENST00000561452.1:c.208+5111G>A chr15.hg19:g.67519040C>T NA B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0 hg19 0.02 1.888709 TTTxCTT COVERED NOVEL AAGAB-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417474.1 0 6.019594 KEEP 0 0 0 20 706 CC 0.999863 0.981821 0 - 4 60 141 0 0 9.721093 53 60 1992 101 ENST00000561452.1 0.070175 0.981955 IQCH 64799 __UNKNOWN__ __UNKNOWN__ 15 67547301 67547301 __UNKNOWN__ Intron SNP C C A rs3743347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67547301C>A ENST00000512104.1 + 1 148 IQCH_ENST00000335894.4_Intron|IQCH_ENST00000358767.3_Intron|IQCH_ENST00000546225.1_Intron|AAGAB_ENST00000542650.1_Intron NM_022784.2 NP_073621.2 Q86VS3 IQCH_HUMAN IQ motif containing H NA NA NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) AAACGGGCTTCCCCCGGCCCT 0.662 NA C||| 1293 0.258187 0.0643 0.3732 5008 , , NA 14086 0.4365 NA 0.2157 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 C , 406,3996 26,354,1821 52 41 44 , -1.3 0 15 dbSNP_107 44 1862,6734 179,1504,2615 no intron,intron IQCH NM_001031715.2,NM_022784.2 , 205,1858,4436 AA,AC,CC 21.6612,9.2231,17.4488 , , 67547301 2268,10730 2201 4298 6499 SO:0001627 intron_variant AY014282 CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1 15q23 2005-10-24 ENSG00000103599 ENSG00000103599 64799 25721 protein-coding gene gene with protein product 612523 NA 12477932 Standard NM_022784 NM_022784 NA Approved FLJ12476 uc002aqo.2 Q86VS3 OTTHUMG00000133231 ENST00000512104.1:c.51+16C>A chr15.hg19:g.67547301C>A NA A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88 hg19 CCDS10223.2 0.02 18.887475 CTTxCCC COVERED NOVEL IQCH-003 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000372724.1 5 64.38052 KEEP 0 5 145 265 9489 CC 1 1 0 + 29 60 858 0 0 53.272625 451 60 16782 974 ENST00000512104.1 0.060417 1 C15orf61 145853 __UNKNOWN__ __UNKNOWN__ 15 67819115 67819115 __UNKNOWN__ 3'UTR SNP T T C rs8027115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67819115T>C ENST00000342683.4 + 0 887 NM_001143936.1 NP_001137408.1 A6NNL5 CO061_HUMAN chromosome 15 open reading frame 61 NA NA extracellular region (GO:0005576) NA TCACACCATTTTTTCCCTAGA 0.294 NA T||| 3115 0.622005 0.4849 0.7017 5008 , , NA 17922 0.5427 NA 0.7515 False NA ,,, NA NA NA 2504 0.6994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45289.1 15q23 2012-09-27 ENSG00000189227 ENSG00000189227 145853 34453 protein-coding gene gene with protein product NA Standard NM_001143936 NM_001143936 NA Approved LOC145853 uc002aqs.3 A6NNL5 ENST00000342683.4:c.*232T>C chr15.hg19:g.67819115T>C NA B4DFB2 hg19 CCDS45289.1 0.02 4.361174 ATTxTTT COVERED NOVEL C15orf61-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417492.1 4 8.121359 KEEP 0 0 0 27 810 TT 0.999988 0.999987 0 + 7 60 260 0 0 17.578063 120 60 4306 170 ENST00000342683.4 0.055118 1 MAP2K5 5607 __UNKNOWN__ __UNKNOWN__ 15 67951150 67951150 __UNKNOWN__ Intron SNP G G T rs12438118 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:67951150G>T ENST00000340972.4 + 6 579 MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000178640.5_Intron|MAP2K5_ENST00000354498.5_Intron|MAP2K5_ENST00000395476.2_Intron Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 NA NA activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165) cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 ACGCTTATGTGCTCCAACCTG 0.398 NA G||| 1630 0.325479 0.1581 0.4524 5008 , , NA 17900 0.506 NA 0.2416 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U25265 CCDS10224.1, CCDS42051.1, CCDS55970.1 15q22.31 2011-06-09 ENSG00000137764 ENSG00000137764 5607 Mitogen-activated protein kinase cascade / Kinase kinases 6845 protein-coding gene gene with protein product 602520 PRKMK5 NA 7759517 Standard NM_145162 NM_002757 NA Approved MEK5, MAPKK5, HsT17454 uc002aqu.3 Q13163 OTTHUMG00000133264 ENST00000340972.4:c.228+198G>T chr15.hg19:g.67951150G>T NA B4DE43|Q92961|Q92962 hg19 0.02 23.575051 TGTxCTC COVERED NOVEL MAP2K5-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000257042.1 4 22.078135 KEEP 0 3 96 107 3855 GG 1 1 0 + 24 60 823 0 0 50.499251 568 70 21730 858 ENST00000340972.4 0.040541 1 SKOR1 390598 __UNKNOWN__ __UNKNOWN__ 15 68116400 68116400 __UNKNOWN__ Intron SNP C C A rs28675295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68116400C>A ENST00000341418.5 + 3 355 SKOR1_ENST00000554240.1_Intron NM_001258024.1 NP_001244953.1 P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 NA NA negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714) endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 TCGGCTCGGGCGCTGTCTTCA 0.647 NA C||| 1982 0.395767 0.3548 0.4611 5008 , , NA 13071 0.5962 NA 0.2326 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS58374.1 15q23 2011-08-04 2010-06-23 2010-06-23 ENSG00000188779 ENSG00000188779 390598 SKI transcriptional corepressors 21326 protein-coding gene gene with protein product transcriptional corepressor CORL1, functional smad suppressing element 15, corepressor for LBX1 611273 Lbxcor1 homolog (mouse) LBXCOR1 NA 15528197 Standard NM_001031807 NM_001258024 NA Approved CORL1, FUSSEL15 uc031qsn.1 P84550 ENST00000341418.5:c.355+19C>A chr15.hg19:g.68116400C>A NA A6NIP4|A6NJY0|Q2VWA5 hg19 CCDS58374.1 0.02 9.444677 GGGxGCT COVERED NOVEL SKOR1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000410829.1 1 6.254189 KEEP 0 1 32 32 1038 CC 0.999998 0.999998 0 + 19 60 702 0 0 51.75332 187 60 5961 269 ENST00000341418.5 0.092233 1 SKOR1 390598 __UNKNOWN__ __UNKNOWN__ 15 68117300 68117300 __UNKNOWN__ Missense_Mutation SNP T T A rs7170185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68117300T>A ENST00000341418.5 + 4 598 c.598T>A c.(598-600)Tgg>Agg p.W200R SKOR1_ENST00000554240.1_Intron NM_001258024.1 NP_001244953.1 P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 0 NA negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714) endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 AGCTAAGAAGTGGATCCCAAC 0.507 NA T||| 1983 0.395966 0.3548 0.4611 5008 , , NA 17538 0.5962 NA 0.2336 False NA ,,, NA NA NA 2504 0.3661 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS58374.1 15q23 2011-08-04 2010-06-23 2010-06-23 ENSG00000188779 ENSG00000188779 390598 SKI transcriptional corepressors 21326 protein-coding gene gene with protein product transcriptional corepressor CORL1, functional smad suppressing element 15, corepressor for LBX1 611273 Lbxcor1 homolog (mouse) LBXCOR1 NA 15528197 Standard NM_001031807 NM_001258024 NA Approved CORL1, FUSSEL15 uc031qsn.1 P84550 ENST00000341418.5:c.598T>A chr15.hg19:g.68117300T>A ENSP00000343200:p.Trp200Arg NA A6NIP4|A6NJY0|Q2VWA5 hg19 CCDS58374.1 0.02 6.710312 AAGxGGA COVERED 837 0.38324175824175827 161 0.32723577235772355 155 0.4281767955801105 345 0.6031468531468531 176 0.23218997361477572 T 8.456 0.854191 0.17106 . . ENSG00000188779 ENST00000341418 T 0.75938 -0.98 4.35 -2.67 0.06059 . . . . . T 0.00012 0.0000 . . . 0.58432 P 4.000000000004E-6 . . . . . . T 0.41431 -0.9509 5 0.87932 D 0 . 2.8312 0.05501 0.3168:0.2668:0.0:0.4163 rs7170185;rs59405503 . . . R 200 ENSP00000343200:W200R ENSP00000343200:W200R W + 1 0 SKOR1 65904354 0.001000 0.12720 0.025000 0.17156 0.075000 0.17131 -0.091000 0.11146 -0.246000 0.09611 0.459000 0.35465 TGG NOVEL SKOR1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000410829.1 0 9.85941 KEEP 0 1 32 44 1329 TT 1 1 0 + 10 60 370 0 0 25.07891 167 60 5943 279 ENST00000341418.5 0.056497 1 SKOR1 390598 __UNKNOWN__ __UNKNOWN__ 15 68121428 68121428 __UNKNOWN__ Intron SNP T T A rs28539889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68121428T>A ENST00000341418.5 + 9 2025 SKOR1_ENST00000554054.1_Intron|SKOR1_ENST00000389002.1_Intron|SKOR1_ENST00000380035.2_Intron|SKOR1_ENST00000554240.1_Intron NM_001258024.1 NP_001244953.1 P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 NA NA negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714) endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 CTCCGTCGGCTTTCCCTCTTG 0.662 NA T||| 1601 0.319688 0.0938 0.4452 5008 , , NA 14734 0.5923 NA 0.2197 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS58374.1 15q23 2011-08-04 2010-06-23 2010-06-23 ENSG00000188779 ENSG00000188779 390598 SKI transcriptional corepressors 21326 protein-coding gene gene with protein product transcriptional corepressor CORL1, functional smad suppressing element 15, corepressor for LBX1 611273 Lbxcor1 homolog (mouse) LBXCOR1 NA 15528197 Standard NM_001031807 NM_001258024 NA Approved CORL1, FUSSEL15 uc031qsn.1 P84550 ENST00000341418.5:c.2026-89T>A chr15.hg19:g.68121428T>A NA A6NIP4|A6NJY0|Q2VWA5 hg19 CCDS58374.1 0.02 1.803969 GGCxTTC COVERED NOVEL SKOR1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000410829.1 0 3.434953 KEEP 0 1 30 22 634 TT 0.999892 0.998885 0 + 4 60 142 0 0 9.282376 73 60 2663 106 ENST00000341418.5 0.051948 0.998993 SKOR1 390598 __UNKNOWN__ __UNKNOWN__ 15 68122509 68122509 __UNKNOWN__ Intron SNP T T C rs28587941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68122509T>C ENST00000341418.5 + 10 2116 SKOR1_ENST00000554054.1_Intron|SKOR1_ENST00000389002.1_Intron|SKOR1_ENST00000380035.2_Intron|SKOR1_ENST00000554240.1_Intron NM_001258024.1 NP_001244953.1 P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 NA NA negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714) endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 TCTCTTGAAATTCGGTTTGTT 0.552 NA C||| 2085 0.416334 0.4244 0.4697 5008 , , NA 12582 0.5952 NA 0.2356 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 C 1690,2710 651.8+/-399.3 335,1020,845 45 44 44 3.7 1 15 dbSNP_125 44 1966,6630 723.7+/-406.5 219,1528,2551 no intron SKOR1 NM_001031807.1 554,2548,3396 CC,CT,TT 22.8711,38.4091,28.1317 68122509 3656,9340 2200 4298 6498 SO:0001627 intron_variant CCDS58374.1 15q23 2011-08-04 2010-06-23 2010-06-23 ENSG00000188779 ENSG00000188779 390598 SKI transcriptional corepressors 21326 protein-coding gene gene with protein product transcriptional corepressor CORL1, functional smad suppressing element 15, corepressor for LBX1 611273 Lbxcor1 homolog (mouse) LBXCOR1 NA 15528197 Standard NM_001031807 NM_001258024 NA Approved CORL1, FUSSEL15 uc031qsn.1 P84550 ENST00000341418.5:c.2117-20T>C chr15.hg19:g.68122509T>C NA A6NIP4|A6NJY0|Q2VWA5 hg19 CCDS58374.1 0.02 6.144677 AAAxTCG COVERED NOVEL SKOR1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000410829.1 1 16.544519 KEEP 0 0 0 55 1619 TT 1 1 0 + 11 60 386 0 0 26.401818 151 60 5360 287 ENST00000341418.5 0.067901 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 68482966 68482966 __UNKNOWN__ IGR SNP G G T rs16951657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68482966G>T NA NA PIAS1 (2564 upstream) : CALML4 (164 downstream) NA NA NA gtttgtttctgtacagtactg 0.383 NA G||| 1170 0.233626 0.0091 0.2983 5008 , , NA 19427 0.6538 NA 0.1083 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.68482966G>T NA hg19 0.02 2.135041 TCTxTAC COVERED NOVEL 0 3 3.310753 KEEP 0 0 0 11 382 GG 0.993072 0.986047 0 4 60 146 0 0 10.040256 59 70 2226 75 0.063492 0.992926 CALML4 91860 __UNKNOWN__ __UNKNOWN__ 15 68484397 68484397 __UNKNOWN__ 3'UTR SNP C C T rs16951659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68484397C>T ENST00000395465.3 - 0 2888 CALML4_ENST00000448060.2_3'UTR Q96GE6 CALL4_HUMAN calmodulin-like 4 NA NA calcium ion binding (GO:0005509) large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 4 AAAGCTTTGACGGAAAGTACC 0.353 NA C||| 69 0.013778 0.0008 0.0058 5008 , , NA 21278 0.0615 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF308287 CCDS10226.2, CCDS42052.1, CCDS66808.1 15q22.31 2013-01-10 ENSG00000129007 ENSG00000129007 91860 EF-hand domain containing 18445 protein-coding gene gene with protein product NA Standard NM_033429 NM_033429 NA Approved MGC4809, NY-BR-20 uc002arb.3 Q96GE6 OTTHUMG00000133287 ENST00000395465.3:c.*2006G>A chr15.hg19:g.68484397C>T NA B4DL15|F8W6Y4|Q6MZY3|Q6N048|Q9H286 hg19 0.02 4.352873 TGAxGGA COVERED NOVEL CALML4-002 NOVEL basic protein_coding NA protein_coding OTTHUMT00000313445.2 0 9.931098 KEEP 0 0 0 33 1113 CC 0.999998 0.999997 0 - 5 60 182 0 0 11.421481 123 60 4281 197 ENST00000395465.3 0.039062 1 ITGA11 22801 __UNKNOWN__ __UNKNOWN__ 15 68617448 68617448 __UNKNOWN__ Intron SNP G G A rs542657322 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68617448G>A ENST00000423218.2 - 18 2418 ITGA11_ENST00000315757.7_Intron Q9UKX5 ITA11_HUMAN integrin, alpha 11 NA NA cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929) focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 CCCGAGGTGCGTGCCCTGTAC 0.622 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 16860 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 58 61 60 NA NA 15 NA 68617448 2107 4229 6336 SO:0001627 intron_variant AF109681 CCDS45291.1 15q22.3-q23 2010-03-23 ENSG00000137809 22801 Integrins 6136 protein-coding gene gene with protein product 604789 NA 10486209 Standard NM_012211 NM_001004439 NA Approved HsT18964 uc002ari.3 Q9UKX5 ENST00000423218.2:c.2322+20C>T chr15.hg19:g.68617448G>A NA J3KQM2|Q8WYI8|Q9UKQ1 hg19 0.02 6.493321 TGCxTGC COVERED NOVEL ITGA11-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000419730.1 1 12.038114 KEEP 0 0 0 40 1362 GG 1 1 0 - 7 60 251 0 0 15.838279 160 60 5134 258 ENST00000423218.2 0.041916 1 ITGA11 22801 __UNKNOWN__ __UNKNOWN__ 15 68695448 68695448 __UNKNOWN__ Intron SNP T T C rs4777049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:68695448T>C ENST00000423218.2 - 2 148 ITGA11_ENST00000315757.7_Intron Q9UKX5 ITA11_HUMAN integrin, alpha 11 NA NA cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929) focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886) collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 TCAGGACCCATTGGCAGGTCA 0.587 NA C||| 2284 0.45607 0.3298 0.5245 5008 , , NA 18308 0.5536 NA 0.4056 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF109681 CCDS45291.1 15q22.3-q23 2010-03-23 ENSG00000137809 22801 Integrins 6136 protein-coding gene gene with protein product 604789 NA 10486209 Standard NM_012211 NM_001004439 NA Approved HsT18964 uc002ari.3 Q9UKX5 ENST00000423218.2:c.53-80A>G chr15.hg19:g.68695448T>C NA J3KQM2|Q8WYI8|Q9UKQ1 hg19 0.02 7.732137 CCAxTGG COVERED NOVEL ITGA11-001 NOVEL basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000419730.1 2 4.545421 KEEP 0 1 34 27 852 TT 0.999997 0.999997 0 - 11 60 433 0 0 31.061695 152 60 5391 220 ENST00000423218.2 0.067485 1 CORO2B 10391 __UNKNOWN__ __UNKNOWN__ 15 69003871 69003871 __UNKNOWN__ Intron SNP G G T rs3736272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:69003871G>T ENST00000543950.1 + 5 822 CORO2B_ENST00000261861.5_Intron|CORO2B_ENST00000566799.1_Intron|CORO2B_ENST00000540068.1_Intron NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B NA NA actin cytoskeleton organization (GO:0030036) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020) actin binding (GO:0003779)|actin filament binding (GO:0051015) kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCATGCATCTGCCCTCGCAGG 0.607 NA G||| 3254 0.64976 0.2678 0.745 5008 , , NA 18199 0.8601 NA 0.7028 False NA ,,, NA NA NA 2504 0.8272 NA NA NA NA 0 G ,, 1604,2796 496.4+/-363.5 317,970,913 78 57 64 ,, -0.9 0 15 dbSNP_107 64 6163,2433 695.7+/-404.8 2220,1723,355 no intron,intron,intron CORO2B NM_001190456.1,NM_001190457.1,NM_006091.4 ,, 2537,2693,1268 TT,TG,GG 28.3039,36.4545,40.2355 ,, ,, 69003871 7767,5229 2200 4298 6498 SO:0001627 intron_variant AB010098 CCDS53952.1, CCDS10229.2 15q22.31 2013-01-10 2001-11-28 ENSG00000103647 ENSG00000103647 10391 Coronins, WD repeat domain containing 2256 protein-coding gene gene with protein product clipin C, coronin, actin-binding, 2B 605002 coronin, actin-binding protein, 2B NA 10224093, 10231032 Standard NM_006091 NM_001190456 NA Approved ClipinC, KIAA0925 uc021spj.1 Q9UQ03 OTTHUMG00000133288 ENST00000543950.1:c.469-10G>T chr15.hg19:g.69003871G>T NA A8K0W3|O94767|Q8TAN1 hg19 CCDS53952.1 0.02 2.270219 TCTxCCC COVERED NOVEL CORO2B-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257068.3 0 5.417801 KEEP 0 0 0 18 646 GG 0.999859 0.986015 0 + 5 60 179 0 0 12.852633 54 60 2009 87 ENST00000543950.1 0.084746 0.986153 ANP32A 8125 __UNKNOWN__ __UNKNOWN__ 15 69094079 69094079 __UNKNOWN__ Intron SNP A A T rs12904108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:69094079A>T ENST00000465139.2 - 2 198 ANP32A_ENST00000560303.1_Intron NM_006305.3 NP_006296.1 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 family, member A NA NA gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) poly(A) RNA binding (GO:0044822) endometrium(1)|large_intestine(1)|lung(2) 4 TTCCTATTAAACTGTAGCACT 0.413 NA A||| 1276 0.254792 0.0204 0.2867 5008 , , NA 20634 0.1637 NA 0.3618 False NA ,,, NA NA NA 2504 0.5327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF025684 CCDS45292.1 15q23 2008-05-14 ENSG00000140350 ENSG00000140350 8125 ANP32 acidic nuclear phosphoproteins 13233 protein-coding gene gene with protein product 600832 C15orf1 NA 8970164, 9144194 Standard NM_006305 NA Approved LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin uc002arl.3 P39687 OTTHUMG00000154502 ENST00000465139.2:c.55-13821T>A chr15.hg19:g.69094079A>T NA B2R6T4|Q53FK4|Q5J8L8|Q7M4N6 hg19 CCDS45292.1 0.02 2.159346 TAAxCTG COVERED NOVEL ANP32A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335525.2 1 6.921154 KEEP 0 0 0 23 734 AA 0.999892 0.99938 0 - 7 60 264 0 0 19.315937 76 60 2715 131 ENST00000465139.2 0.084337 0.999487 SPESP1 246777 __UNKNOWN__ __UNKNOWN__ 15 69238272 69238272 __UNKNOWN__ Missense_Mutation SNP G G T rs3743091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:69238272G>T ENST00000310673.3 + 2 553 c.399G>T c.(397-399)ttG>ttT p.L133F RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 133 NA L -> F (in dbSNP:rs3743091). acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275) acrosomal vesicle (GO:0001669) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 CCATTGTTTTGCATGCAGAGG 0.453 NA G||| 496 0.0990415 0.0991 0.0389 5008 , , NA 18747 0.1905 NA 0.0507 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 G ,PHE/LEU 392,4008 194.3+/-219.2 20,352,1828 52 54 54 ,399 2.9 0.8 15 dbSNP_107 54 441,8155 134.1+/-191.5 17,407,3874 yes intron,missense NOX5,SPESP1 NM_001184780.1,NM_145658.3 ,22 37,759,5702 TT,TG,GG 5.1303,8.9091,6.4097 ,probably-damaging ,133/351 69238272 833,12163 2200 4298 6498 SO:0001583 missense AF275321 CCDS10230.1 15q22.31 2011-04-15 ENSG00000258484 246777 15570 protein-coding gene gene with protein product 609399 NA 12773409 Standard NM_145658 NM_145658 NA Approved SP-ESP uc002arn.2 Q6UW49 ENST00000310673.3:c.399G>T chr15.hg19:g.69238272G>T ENSP00000312284:p.Leu133Phe NA Q8NG22|Q8WVH8 hg19 CCDS10230.1 0.02 12.555891 TTTxCAT COVERED 195 0.08928571428571429 46 0.09349593495934959 10 0.027624309392265192 101 0.17657342657342656 38 0.05013192612137203 G 12.23 1.877039 0.33162 0.089091 0.051303 ENSG00000258484 ENST00000310673 T 0.44083 0.93 5.21 2.91 0.33838 . 0.000000 0.37530 N 0.002044 T 0.00144 0.0004 L 0.36672 1.1 0.09310 P 0.999999999351199 D 0.89917 1.0 D 0.97110 1.0 T 0.08371 -1.0725 9 0.87932 D 0 -10.4237 6.8196 0.23849 0.8137:0.0:0.1863:0.0 rs3743091;rs52804089;rs59972728;rs3743091 133 Q6UW49 SPESP_HUMAN F 133 ENSP00000312284:L133F ENSP00000312284:L133F L + 3 2 SPESP1 67025326 0.203000 0.23435 0.831000 0.32960 0.009000 0.06853 0.085000 0.14912 0.410000 0.25675 -0.238000 0.12139 TTG NOVEL SPESP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257125.1 6 20.449955 KEEP 0 0 0 68 2360 GG 1 1 0 + 13 60 431 0 0 25.732662 326 60 12171 459 ENST00000310673.3 0.038348 1 NOX5 79400 __UNKNOWN__ __UNKNOWN__ 15 69267084 69267084 __UNKNOWN__ 5'UTR SNP G G T rs34887423 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:69267084G>T ENST00000448182.3 + 0 210 RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_5'UTR Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 NA NA angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 aatccattgcgcccaggctgg 0.443 NA G||| 499 0.0996406 0.0991 0.0389 5008 , , NA 21842 0.1935 NA 0.0507 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF317889 CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1 15q22.31 2013-01-10 ENSG00000255346 ENSG00000255346 79400 EF-hand domain containing 14874 protein-coding gene gene with protein product 606572 NA 11483596 Standard NM_024505 NM_001184779 NA Approved NOX5A, NOX5B uc002ars.2 Q96PH1 OTTHUMG00000133320 ENST00000448182.3:c.-92G>T chr15.hg19:g.69267084G>T NA B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8 hg19 0.02 10.872684 TGCxCCC COVERED NOVEL NOX5-011 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000413443.2 2 15.651192 KEEP 0 0 0 52 1849 GG 1 1 0 + 10 60 335 0 0 20.175949 260 60 9650 381 ENST00000448182.3 0.037037 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 70095755 70095755 __UNKNOWN__ IGR SNP C C T rs12439031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70095755C>T NA NA AC021818.1 (17912 upstream) : RP11-19J5.2 (17339 downstream) NA NA NA TGGATCTTGGCGCTGTCCCCA 0.587 NA c||| 1761 0.351637 0.2103 0.4193 5008 , , NA 19766 0.5962 NA 0.2266 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.70095755C>T NA hg19 0.02 1.888192 TGGxGCT COVERED NOVEL 0 1 7.222258 KEEP 0 0 0 24 789 CC 0.999909 0.999128 0 4 60 147 0 0 9.718852 76 60 2555 112 0.05 0.999218 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70350607 70350607 __UNKNOWN__ Silent SNP C C T rs2291981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70350607C>T ENST00000558939.1 - 12 2319 c.942G>A c.(940-942)ggG>ggA p.G314G TLE3_ENST00000560589.1_Silent_p.G258G|TLE3_ENST00000558379.1_Silent_p.G314G|TLE3_ENST00000440567.3_Silent_p.G307G|TLE3_ENST00000559048.1_Silent_p.G319G|TLE3_ENST00000560939.1_Silent_p.G319G|TLE3_ENST00000558201.1_Silent_p.G320G|TLE3_ENST00000442299.2_Silent_p.G314G|TLE3_ENST00000557997.1_Silent_p.G314G|TLE3_ENST00000451782.2_Silent_p.G314G|TLE3_ENST00000539550.1_Silent_p.G258G|TLE3_ENST00000559929.1_Silent_p.G324G|TLE3_ENST00000317509.8_Silent_p.G314G|TLE3_ENST00000557907.1_Silent_p.G314G|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 314 Pro/Ser-rich. NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGGACTTGAGCCCAGGGGTGG 0.617 NA C||| 304 0.0607029 0.0 0.0173 5008 , , NA 17942 0.1954 NA 0.0089 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 C ,, 10,4016 0,10,2003 175 182 180 942,942,942 -0.2 1 15 dbSNP_100 180 95,8227 0,95,4066 no coding-synonymous,coding-synonymous,coding-synonymous TLE3 NM_001105192.1,NM_005078.2,NM_020908.1 ,, 0,105,6069 TT,TC,CC 1.1416,0.2484,0.8503 ,, 314/770,314/773,314/761 70350607 105,12243 2013 4161 6174 SO:0001819 synonymous_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.942G>A chr15.hg19:g.70350607C>T NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 4.112971 GAGxCCA COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 0 7.960261 KEEP 0 1 30 37 1321 CC 1 1 0 - 11 60 389 0 0 27.280692 133 60 4833 228 ENST00000558939.1 0.076389 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70351788 70351788 __UNKNOWN__ Silent SNP T T C rs2133977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70351788T>C ENST00000558939.1 - 10 2103 c.726A>G c.(724-726)ggA>ggG p.G242G TLE3_ENST00000560589.1_Silent_p.G186G|TLE3_ENST00000558379.1_Silent_p.G242G|TLE3_ENST00000440567.3_Silent_p.G235G|TLE3_ENST00000559048.1_Silent_p.G247G|TLE3_ENST00000560939.1_Silent_p.G247G|TLE3_ENST00000558201.1_Silent_p.G248G|TLE3_ENST00000442299.2_Silent_p.G242G|TLE3_ENST00000557997.1_Silent_p.G242G|TLE3_ENST00000451782.2_Silent_p.G242G|TLE3_ENST00000539550.1_Silent_p.G186G|TLE3_ENST00000559929.1_Silent_p.G252G|TLE3_ENST00000317509.8_Silent_p.G242G|TLE3_ENST00000557907.1_Silent_p.G242G|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 242 CCN domain. NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 CACTCTTGTCTCCATCACTGT 0.542 NA C||| 3377 0.674321 0.4917 0.8329 5008 , , NA 20279 0.6954 NA 0.7853 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 0 C ,, 2284,1810 623,1038,386 120 127 125 726,726,726 2.1 1 15 dbSNP_96 125 6512,1874 2526,1460,207 no coding-synonymous,coding-synonymous,coding-synonymous TLE3 NM_001105192.1,NM_005078.2,NM_020908.1 ,, 3149,2498,593 CC,CT,TT 22.3468,44.211,29.5192 ,, 242/770,242/773,242/761 70351788 8796,3684 2047 4193 6240 SO:0001819 synonymous_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.726A>G chr15.hg19:g.70351788T>C NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 13.206393 GTCxCCA COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 1 14.555285 KEEP 0 2 76 75 2299 TT 1 1 0 - 15 60 545 0 0 35.109095 318 60 11767 524 ENST00000558939.1 0.045045 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70353050 70353050 __UNKNOWN__ Intron SNP C C T rs79615108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70353050C>T ENST00000558939.1 - 9 1972 TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000442299.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 NA NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTCACACATCCGCACACAGCT 0.547 NA C||| 320 0.0638978 0.0 0.0187 5008 , , NA 20200 0.1974 NA 0.0129 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 C ,, 8,1744 0,8,868 26 26 26 ,, -4.6 0 15 dbSNP_131 26 75,3905 0,75,1915 no intron,intron,intron TLE3 NM_001105192.1,NM_005078.2,NM_020908.1 ,, 0,83,2783 TT,TC,CC 1.8844,0.4566,1.448 ,, ,, 70353050 83,5649 876 1990 2866 SO:0001627 intron_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.595-62G>A chr15.hg19:g.70353050C>T NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 9.065896 ATCxGCA COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 0 33.339155 KEEP 0 1 32 122 4093 CC 1 1 0 - 22 60 811 0 0 59.302807 227 60 8037 479 ENST00000558939.1 0.088353 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70368540 70368540 __UNKNOWN__ Intron SNP C C G rs2291985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70368540C>G ENST00000558939.1 - 5 1612 TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000442299.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 NA NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCAAATAAATCAAGTCACTGA 0.502 NA C||| 318 0.0634984 0.0 0.0187 5008 , , NA 19000 0.1954 NA 0.0139 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 C ,, 16,3910 0,16,1947 101 96 98 ,, 2.3 0 15 dbSNP_100 98 140,8128 0,140,3994 no intron,intron,intron TLE3 NM_001105192.1,NM_005078.2,NM_020908.1 ,, 0,156,5941 GG,GC,CC 1.6933,0.4075,1.2793 ,, ,, 70368540 156,12038 1963 4134 6097 SO:0001627 intron_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.235-43G>C chr15.hg19:g.70368540C>G NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 7.714315 AATxAAG COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 0 11.738288 KEEP 0 0 0 39 1398 CC 1 1 0 - 11 60 431 0 0 30.799946 154 60 5866 236 ENST00000558939.1 0.066667 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70371777 70371777 __UNKNOWN__ Intron SNP C C G rs78212770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70371777C>G ENST00000558939.1 - 5 1612 TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000442299.2_Intron|MIR629_ENST00000385230.1_RNA|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 NA NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GTTCTCCCAACGTAAACCCAG 0.582 NA c||| 304 0.0607029 0.0 0.0173 5008 , , NA 11498 0.1935 NA 0.0099 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 ,, 10,3118 0,10,1554 31 33 32 ,, 0.9 0 15 dbSNP_131 32 86,7074 0,86,3494 no intron,intron,intron TLE3 NM_001105192.1,NM_005078.2,NM_020908.1 ,, 0,96,5048 GG,GC,CC 1.2011,0.3197,0.9331 ,, ,, 70371777 96,10192 1564 3580 5144 SO:0001627 intron_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.235-3280G>C chr15.hg19:g.70371777C>G NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 9.066788 CAAxGTA COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 3 25.568239 KEEP 0 0 0 85 2841 CC 1 1 0 - 17 60 625 0 0 43.74373 230 60 7965 441 ENST00000558939.1 0.068826 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70371867 70371867 __UNKNOWN__ Intron SNP C C T rs79128009 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70371867C>T ENST00000558939.1 - 5 1612 TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000442299.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 NA NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGCTAGTACCCTCTTGGGGTC 0.582 NA C||| 317 0.0632987 0.0 0.0187 5008 , , NA 15797 0.1944 NA 0.0139 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 13 15 14 NA NA 15 NA 70371867 688 1588 2276 SO:0001627 intron_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.235-3370G>A chr15.hg19:g.70371867C>T NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 10.850803 ACCxTCT COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 3 26.486894 KEEP 0 0 0 88 3179 CC 1 1 0 - 14 60 508 1 0 33.065958 279 70 10730 485 ENST00000558939.1 0.047782 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70371874 70371874 __UNKNOWN__ Intron SNP G G C rs75165322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70371874G>C ENST00000558939.1 - 5 1612 TLE3_ENST00000560589.1_Intron|TLE3_ENST00000558379.1_Intron|TLE3_ENST00000440567.3_Intron|TLE3_ENST00000559048.1_Intron|TLE3_ENST00000560939.1_Intron|TLE3_ENST00000558201.1_Intron|TLE3_ENST00000442299.2_Intron|TLE3_ENST00000557997.1_Intron|TLE3_ENST00000451782.2_Intron|TLE3_ENST00000539550.1_Intron|TLE3_ENST00000559929.1_Intron|TLE3_ENST00000317509.8_Intron|TLE3_ENST00000557907.1_Intron|TLE3_ENST00000559191.1_Intron NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 NA NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACCCTCTTGGGGTCTCCCCAC 0.577 NA G||| 317 0.0632987 0.0 0.0187 5008 , , NA 15594 0.1944 NA 0.0139 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 G ,, 6,1370 0,6,682 11 12 12 ,, -2.1 0 15 dbSNP_131 12 43,3133 0,43,1545 no intron,intron,intron TLE3 NM_001105192.1,NM_005078.2,NM_020908.1 ,, 0,49,2227 CC,CG,GG 1.3539,0.436,1.0764 ,, ,, 70371874 49,4503 688 1588 2276 SO:0001627 intron_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.235-3377C>G chr15.hg19:g.70371874G>C NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 9.854254 TGGxGTC COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 2 24.076131 KEEP 0 0 0 80 2763 GG 1 1 0 - 12 60 399 1 0 24.087246 271 70 9922 450 ENST00000558939.1 0.042403 1 TLE3 7090 __UNKNOWN__ __UNKNOWN__ 15 70390053 70390053 __UNKNOWN__ 5'UTR SNP C C T rs183570362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:70390053C>T ENST00000558939.1 - 0 462 TLE3_ENST00000442299.2_5'UTR|TLE3_ENST00000557997.1_5'UTR|TLE3_ENST00000559574.1_5'UTR|TLE3_ENST00000317509.8_5'UTR|TLE3_ENST00000559191.1_5'UTR NM_001282979.1|NM_001282980.1|NM_001282981.1 NP_001269908.1|NP_001269909.1|NP_001269910.1 Q04726 TLE3_HUMAN transducin-like enhancer of split 3 NA NA Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TCTACGGCTTCCTTCCTTCCC 0.697 NA C||| 39 0.00778754 0.0023 0.0029 5008 , , NA 10827 0.0298 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant M99438 CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1 15q22 2014-03-07 2014-03-07 ENSG00000140332 7090 WD repeat domain containing 11839 protein-coding gene gene with protein product 600190 transducin-like enhancer of split 3, homolog of Drosophila E(sp1), transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) NA 8365415 Standard NM_005078 XM_005254623 NA Approved ESG, ESG3, KIAA1547, HsT18976, GRG3 uc002asm.2 Q04726 ENST00000558939.1:c.-916G>A chr15.hg19:g.70390053C>T NA B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5 hg19 CCDS45293.1 0.02 15.097379 CTTxCTT COVERED NOVEL TLE3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000416913.1 25 110.707161 KEEP 0 0 0 368 12380 CC 1 1 0 - 20 60 730 0 0 48.840143 347 60 12588 1020 ENST00000558939.1 0.054496 1 THSD4 79875 __UNKNOWN__ __UNKNOWN__ 15 71548937 71548937 __UNKNOWN__ Intron SNP T T C rs4777350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:71548937T>C ENST00000355327.3 + 6 1046 THSD4_ENST00000261862.6_Intron Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 NA NA elastic fiber assembly (GO:0048251) extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GCATATTTAATATCTGCTTTA 0.363 NA T||| 1687 0.336861 0.2352 0.2925 5008 , , NA 1598 0.3234 NA 0.3986 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 T 893,2761 103,687,1037 101 104 103 1.1 0 15 dbSNP_111 103 3412,4772 692,2028,1372 no intron THSD4 NM_024817.2 795,2715,2409 CC,CT,TT 41.6911,24.439,36.3659 71548937 4305,7533 1827 4092 5919 SO:0001627 intron_variant AK023772 CCDS10238.2, CCDS66817.1 15q23 2009-11-09 ENSG00000187720 ENSG00000187720 79875 25835 protein-coding gene gene with protein product 614476 NA 19734141 Standard NM_024817 NM_001286429 NA Approved FVSY9334, PRO34005, FLJ13710, ADAMTSL6 uc002atb.1 Q6ZMP0 OTTHUMG00000133389 ENST00000355327.3:c.913-15T>C chr15.hg19:g.71548937T>C NA B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4 hg19 CCDS10238.2 0.02 8.205009 TAAxATC COVERED NOVEL THSD4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257253.2 4 7.45318 KEEP 0 1 32 36 1064 TT 1 1 0 + 13 60 475 0 0 32.211016 209 60 7661 285 ENST00000355327.3 0.058559 1 THSD4 79875 __UNKNOWN__ __UNKNOWN__ 15 72050181 72050181 __UNKNOWN__ Intron SNP A A G rs8026307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:72050181A>G ENST00000355327.3 + 15 2549 THSD4_ENST00000261862.6_Intron|THSD4_ENST00000357769.4_Intron|THSD4_ENST00000567838.1_Intron Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 NA NA elastic fiber assembly (GO:0048251) extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CCATCATTTGAAAGTGGCTTC 0.542 NA A||| 1043 0.208267 0.3835 0.2032 5008 , , NA 19082 0.1915 NA 0.0606 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023772 CCDS10238.2, CCDS66817.1 15q23 2009-11-09 ENSG00000187720 ENSG00000187720 79875 25835 protein-coding gene gene with protein product 614476 NA 19734141 Standard NM_024817 NM_001286429 NA Approved FVSY9334, PRO34005, FLJ13710, ADAMTSL6 uc002atb.1 Q6ZMP0 OTTHUMG00000133389 ENST00000355327.3:c.2416-60A>G chr15.hg19:g.72050181A>G NA B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4 hg19 CCDS10238.2 0.02 2.320618 TTGxAAG COVERED NOVEL THSD4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257253.2 0 3.009228 KEEP 0 0 0 10 322 AA 0.992708 0.991413 0 + 4 60 149 0 0 10.005052 72 60 2554 100 ENST00000355327.3 0.052632 0.998696 THSD4 79875 __UNKNOWN__ __UNKNOWN__ 15 72074229 72074229 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:72074229G>A ENST00000355327.3 + 0 7707 THSD4_ENST00000261862.6_3'UTR Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 NA NA elastic fiber assembly (GO:0048251) extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TTGTTTGGTGGGGGAAGGCAA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023772 CCDS10238.2, CCDS66817.1 15q23 2009-11-09 ENSG00000187720 ENSG00000187720 79875 25835 protein-coding gene gene with protein product 614476 NA 19734141 Standard NM_024817 NM_001286429 NA Approved FVSY9334, PRO34005, FLJ13710, ADAMTSL6 uc002atb.1 Q6ZMP0 OTTHUMG00000133389 ENST00000355327.3:c.*4516G>A chr15.hg19:g.72074229G>A NA B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4 hg19 CCDS10238.2 0.02 15.213423 GTGxGGG COVERED NOVEL THSD4-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257253.2 2 22.873188 KEEP 0 0 0 76 2651 GG 1 1 0 + 13 60 475 0 0 29.342577 352 60 12875 530 ENST00000355327.3 0.035616 1 GOLGA6B 55889 __UNKNOWN__ __UNKNOWN__ 15 72958267 72958267 __UNKNOWN__ Intron SNP G G A rs181034191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:72958267G>A ENST00000421285.3 + 16 1800 NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B NA NA Golgi apparatus (GO:0005794) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GGGTGGGCATGGGCGCTGGTG 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 111 140 130 NA NA 15 NA 72958267 2196 4295 6491 SO:0001627 intron_variant CCDS10245.2 15q24.1 2011-10-25 2010-02-12 ENSG00000215186 ENSG00000215186 55889 32205 protein-coding gene gene with protein product golgi autoantigen, golgin subfamily a, 6B NA Standard NM_018652 XM_006720604 NA Approved uc010uks.1 A6NDN3 OTTHUMG00000133511 ENST00000421285.3:c.1800+41G>A chr15.hg19:g.72958267G>A NA A8MYY7 hg19 CCDS10245.2 0.02 12.005663 CATxGGC COVERED NOVEL GOLGA6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257474.4 3 3.073744 KEEP 26 5 144 61 2157 GG 1 1 0 + 35 49 1210 0 0 90.831209 265 50 9873 470 ENST00000421285.3 0.116667 1 BBS4 585 __UNKNOWN__ __UNKNOWN__ 15 73016829 73016829 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:73016829G>T ENST00000268057.4 + 8 500 BBS4_ENST00000539603.1_Intron|BBS4_ENST00000542334.1_Intron|BBS4_ENST00000395205.2_Intron NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 NA NA adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601) BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242) alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103) autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 TTCGTTCAGTGGTAGTGATTT 0.388 NA Bardet-Biedl syndrome NA NA NA NA NA NA NA NA NA NA 0 76 71 73 NA NA 15 NA 73016829 2198 4297 6495 SO:0001627 intron_variant Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AF090947 CCDS10246.1, CCDS58377.1 15q22.3-q23 2013-01-10 ENSG00000140463 ENSG00000140463 585 Tetratricopeptide (TTC) repeat domain containing 969 protein-coding gene gene with protein product 600374 NA 7711739, 11381270 Standard NM_033028 NM_033028 NA Approved uc002avb.3 Q96RK4 OTTHUMG00000133510 ENST00000268057.4:c.460-40G>T chr15.hg19:g.73016829G>T NA B4E178|Q53DZ5|Q8NHU9|Q96H45 hg19 CCDS10246.1 0.02 3.965492 AGTxGTA COVERED NOVEL BBS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257473.2 0 4.514558 KEEP 0 0 0 15 530 GG 0.99649 0.99649 0 + 6 60 210 0 0 13.152035 132 60 5039 170 ENST00000268057.4 0.043478 1 NEO1 4756 __UNKNOWN__ __UNKNOWN__ 15 73418578 73418578 __UNKNOWN__ Intron SNP C C T rs62016813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:73418578C>T ENST00000339362.5 + 5 1171 NEO1_ENST00000560262.1_Intron|NEO1_ENST00000558964.1_Intron|NEO1_ENST00000261908.6_Intron Q92859 NEO1_HUMAN neogenin 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) receptor activity (GO:0004872) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AGTGCTTTGTCGTGTGTGTAT 0.423 NA C||| 1014 0.202476 0.0144 0.3963 5008 , , NA 19793 0.0903 NA 0.3499 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U61262 CCDS10247.1, CCDS53957.1, CCDS58378.1 15q22.3-q23 2014-06-20 2010-06-24 ENSG00000067141 ENSG00000067141 4756 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7754 protein-coding gene gene with protein product immunoglobulin superfamily, DCC subclass, member 2 601907 neogenin (chicken) homolog 1 NA 9121761 Standard NM_002499 NM_002499 NA Approved NGN, HsT17534, IGDCC2, NTN1R2 uc002avm.4 Q92859 OTTHUMG00000133509 ENST00000339362.5:c.725-180C>T chr15.hg19:g.73418578C>T NA B7ZKM9|B7ZKN0|O00340|Q17RX1 hg19 CCDS10247.1 0.02 -0.122825 TGTxGTG COVERED NOVEL NEO1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257472.2 2 2.406767 KEEP 0 0 0 8 254 CC 0.99257 0.194853 0 + 5 60 183 0 0 16.722821 9 60 340 27 ENST00000339362.5 0.357143 0.196312 C15orf59 388135 __UNKNOWN__ __UNKNOWN__ 15 74032783 74032783 __UNKNOWN__ Silent SNP A A G rs28594180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74032783A>G ENST00000569673.1 - 3 1561 c.357T>C c.(355-357)tcT>tcC p.S119S C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Silent_p.S119S Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 119 NA breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCGAGGGGGTAGAGACGTCCA 0.642 NA A||| 2244 0.448083 0.2761 0.4669 5008 , , NA 17151 0.5853 NA 0.4056 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 A 1346,3050 435.1+/-344.2 218,910,1070 82 85 84 357 -3.5 0.7 15 dbSNP_125 84 3473,5119 490.6+/-372.9 712,2049,1535 no coding-synonymous C15orf59 NM_001039614.1 930,2959,2605 GG,GA,AA 40.4213,30.6187,37.1035 119/294 74032783 4819,8169 2198 4296 6494 SO:0001819 synonymous_variant CCDS32289.1 15q24.1 2012-09-27 ENSG00000205363 ENSG00000205363 388135 33753 protein-coding gene gene with protein product NA Standard NM_001039614 XM_005254369 NA Approved MGC131524, LOC388135 uc002avy.3 Q2T9L4 OTTHUMG00000172556 ENST00000569673.1:c.357T>C chr15.hg19:g.74032783A>G NA hg19 CCDS32289.1 0.02 19.926722 GGTxGAG COVERED NOVEL C15orf59-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419077.2 2 32.422077 KEEP 0 1 35 120 3606 AA 1 1 0 - 14 60 500 0 0 29.324002 460 60 14942 741 ENST00000569673.1 0.029536 1 LOXL1 4016 __UNKNOWN__ __UNKNOWN__ 15 74241954 74241954 __UNKNOWN__ Intron SNP T T C rs186415803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74241954T>C ENST00000261921.7 + 6 2044 LOXL1_ENST00000567675.1_Intron NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 NA NA extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CTCCGTCCCTTTCCTGCCTGG 0.532 NA T||| 4 0.000798722 0.0 0.0 5008 , , NA 22853 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 62 55 58 NA NA 15 NA 74241954 2198 4297 6495 SO:0001627 intron_variant L21186 CCDS10253.1 15q24-q25 2008-07-18 ENSG00000129038 ENSG00000129038 4016 6665 protein-coding gene gene with protein product 153456 NA 7689553 Standard NM_005576 NM_005576 NA Approved LOXL, LOL uc002awc.1 Q08397 OTTHUMG00000137595 ENST00000261921.7:c.1718+39T>C chr15.hg19:g.74241954T>C NA Q6NUL3|Q96BW7 hg19 CCDS10253.1 0.02 5.05396 CCTxTCC COVERED NOVEL LOXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268995.2 0 7.822368 KEEP 0 0 0 26 805 TT 0.999957 0.999941 0 + 7 60 266 0 0 18.774932 98 60 3444 139 ENST00000261921.7 0.066667 0.999984 LOXL1 4016 __UNKNOWN__ __UNKNOWN__ 15 74244278 74244278 __UNKNOWN__ 3'UTR SNP C C G rs8818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74244278C>G ENST00000261921.7 + 0 2151 LOXL1_ENST00000567675.1_3'UTR NM_005576.2 NP_005567.2 Q08397 LOXL1_HUMAN lysyl oxidase-like 1 NA NA extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 CCCACAGGCACGGAGGGGCAT 0.637 NA G||| 3225 0.64397 0.4894 0.7882 5008 , , NA 14452 0.6379 NA 0.7674 False NA ,,, NA NA NA 2504 0.6299 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L21186 CCDS10253.1 15q24-q25 2008-07-18 ENSG00000129038 ENSG00000129038 4016 6665 protein-coding gene gene with protein product 153456 NA 7689553 Standard NM_005576 NM_005576 NA Approved LOXL, LOL uc002awc.1 Q08397 OTTHUMG00000137595 ENST00000261921.7:c.*100C>G chr15.hg19:g.74244278C>G NA Q6NUL3|Q96BW7 hg19 CCDS10253.1 0.02 2.229506 GCAxGGA COVERED NOVEL LOXL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268995.2 0 11.94313 KEEP 0 3 107 77 2533 CC 1 0.998465 0 + 4 60 152 0 0 10.329033 71 60 2483 177 ENST00000261921.7 0.053333 0.998465 STOML1 9399 __UNKNOWN__ __UNKNOWN__ 15 74275676 74275676 __UNKNOWN__ 3'UTR SNP A A G rs2507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74275676A>G ENST00000316900.5 - 0 1923 STOML1_ENST00000316911.6_3'UTR|STOML1_ENST00000564777.1_3'UTR|STOML1_ENST00000561656.1_3'UTR NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4 NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2 Q9UBI4 STML1_HUMAN stomatin (EPB72)-like 1 NA NA integral component of membrane (GO:0016021) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 CATGCAGGACAGAGCTGGCAG 0.602 NA G||| 1663 0.332069 0.3797 0.1628 5008 , , NA 16374 0.3681 NA 0.2873 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y16522 CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1 15q24-q25 2008-07-18 ENSG00000067221 ENSG00000067221 9399 14560 protein-coding gene gene with protein product stomatin-like 1, stomatin (EBP72)-like 1 608326 NA 9931417 Standard NM_004809 NM_004809 NA Approved hUNC-24, SLP-1, STORP, FLJ36370 uc002awe.4 Q9UBI4 OTTHUMG00000137608 ENST00000316900.5:c.*602T>C chr15.hg19:g.74275676A>G NA B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9 hg19 CCDS10254.1 0.02 9.30664 GACxGAG COVERED NOVEL STOML1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269022.1 0 27.016801 KEEP 0 1 35 102 3219 AA 1 1 0 - 8 60 286 0 0 17.30442 225 70 8264 408 ENST00000316900.5 0.034335 1 PML 5371 __UNKNOWN__ __UNKNOWN__ 15 74328576 74328576 __UNKNOWN__ Intron SNP A A G rs9479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74328576A>G ENST00000268058.3 + 7 1806 PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_3'UTR|PML_ENST00000354026.6_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000268059.6_3'UTR NM_033238.2 NP_150241.2 P29590 PML_HUMAN promyelocytic leukemia NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 ACTCTCCTGTATTCTGAGTCC 0.572 NA T RARA, PAX5 APL, ALL OREG0023271 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 2679 0.534944 0.4675 0.5216 5008 , , NA 16871 0.6399 NA 0.5209 False NA ,,, NA NA NA 2504 0.5419 NA NA NA Dom yes 15 15q22 5371 promyelocytic leukemia L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB208950 CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1 15q24.1 2011-04-21 ENSG00000140464 ENSG00000140464 5371 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 9113 protein-coding gene gene with protein product 102578 NA Standard NM_002675 NM_033244 NA Approved MYL, TRIM19, RNF71 uc002awv.3 P29590 OTTHUMG00000137607 ENST00000268058.3:c.1710+1705A>G chr15.hg19:g.74328576A>G 1152 E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3 hg19 CCDS10255.1 0.02 11.910156 TGTxTTC COVERED NOVEL PML-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269021.3 1 11.868139 KEEP 0 1 36 52 1577 AA 1 1 0 + 10 60 360 0 0 22.505909 244 60 8464 385 ENST00000268058.3 0.03937 1 GOLGA6A 342096 __UNKNOWN__ __UNKNOWN__ 15 74364502 74364502 __UNKNOWN__ Intron SNP G G C rs62005666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74364502G>C ENST00000290438.3 - 14 1634 NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A NA NA Golgi apparatus (GO:0005794) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 GCATAAGGGGGTCTGGGAGGG 0.612 NA N||| 933 0.186302 0.2118 0.1282 5008 , , NA 31610 0.1548 NA 0.1769 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF263742 CCDS32290.1 15q24.1 2013-05-10 2010-02-12 2009-09-28 ENSG00000159289 ENSG00000159289 342096 13567 protein-coding gene gene with protein product 610288 golgi autoantigen, golgin subfamily a, member 6, golgi autoantigen, golgin subfamily a, 6, golgi autoantigen, golgin subfamily a, 6A GOLGA6 NA 11161787 Standard XM_292357 NM_001038640 NA Approved GLP uc002axa.1 Q9NYA3 OTTHUMG00000173035 ENST00000290438.3:c.1593+56C>G chr15.hg19:g.74364502G>C NA A8K959|Q9NYA7 hg19 CCDS32290.1 0.02 2.205258 GGGxTCT UNCOVERED NOVEL GOLGA6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421835.1 1 2.407603 KEEP 17 0 0 8 271 GG 0 0 0 - 6 40 214 0 0 16.032971 49 60 1810 93 ENST00000290438.3 0.109091 0.976865 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 74378745 74378745 __UNKNOWN__ IGR SNP G G A rs143298070 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74378745G>A NA NA GOLGA6A (3854 upstream) : ISLR2 (13906 downstream) NA NA NA TGCTGTGCATGTCAAAAGAAC 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.74378745G>A NA hg19 0.02 10.837671 CATxTCA COVERED NOVEL 0 1 4.950095 KEEP 24 1 33 28 978 GG 0.999957 0.999957 0 20 49 706 0 0 49.85395 231 50 8866 359 0.079681 1 SEMA7A 8482 __UNKNOWN__ __UNKNOWN__ 15 74710485 74710485 __UNKNOWN__ Intron SNP G G C rs2072649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74710485G>C ENST00000261918.4 - 3 921 SEMA7A_ENST00000542748.1_Intron|SEMA7A_ENST00000543145.2_Intron NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) NA NA axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727) anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 AAGCACAGAGGACCACGTCTC 0.602 NA G||| 661 0.131989 0.0386 0.0922 5008 , , NA 19211 0.2312 NA 0.0527 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF069493 CCDS10262.1, CCDS53958.1, CCDS53959.1 15q22.3-q23 2014-07-18 2006-02-23 ENSG00000138623 ENSG00000138623 8482 Semaphorins, CD molecules, Blood group antigens, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10741 protein-coding gene gene with protein product John Milton Hagen blood group, H-Sema K1 607961 sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A, sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group) SEMAL NA 9721204 Standard NM_003612 NM_003612 NA Approved H-Sema-L, CD108 uc002axv.3 O75326 OTTHUMG00000139000 ENST00000261918.4:c.372+123C>G chr15.hg19:g.74710485G>C NA B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5 hg19 CCDS10262.1 0.02 2.368861 GAGxACC COVERED NOVEL SEMA7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272904.3 0 6.019017 KEEP 0 0 0 20 670 GG 0.999863 0.99927 0 - 7 60 255 0 0 18.460132 75 60 2706 102 ENST00000261918.4 0.085366 0.999407 ARID3B 10620 __UNKNOWN__ __UNKNOWN__ 15 74836316 74836316 __UNKNOWN__ Silent SNP A A G rs8043032|rs529059345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74836316A>G ENST00000346246.5 + 2 270 c.39A>G c.(37-39)caA>caG p.Q13Q NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 13 Gln-rich. NA nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 agcagcagcaacaacagaagc 0.572 NA 1807 0.360823 0.351 0.4424 5008 , , NA 16769 0.5744 NA 0.1203 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 A 1061,3329 193,675,1327 18 21 20 39 1.2 0.5 15 dbSNP_116 20 753,7835 53,647,3594 no coding-synonymous ARID3B NM_006465.2 246,1322,4921 GG,GA,AA 8.768,24.1686,13.9775 13/561 74836316 1814,11164 2195 4294 6489 SO:0001819 synonymous_variant CCDS10264.1 15q24 2013-02-07 2006-11-08 ENSG00000179361 ENSG00000179361 10620 - 14350 protein-coding gene gene with protein product 612457 AT rich interactive domain 3B (BRIGHT- like) NA Standard NM_006465 NM_006465 NA Approved BDP, DRIL2 uc002ayd.3 Q8IVW6 OTTHUMG00000141321 ENST00000346246.5:c.39A>G chr15.hg19:g.74836316A>G NA O95443|Q59HC9|Q6P9C9 hg19 CCDS10264.1 0.02 10.721213 GCAxCAA COVERED NOVEL ARID3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280688.2 3 23.303856 KEEP 0 1 15 83 2519 AA 1 1 0 + 11 60 381 1 0 23.740692 242 60 8466 383 ENST00000346246.5 0.043478 1 ARID3B 10620 __UNKNOWN__ __UNKNOWN__ 15 74889163 74889163 __UNKNOWN__ 3'UTR SNP C C T rs11072494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74889163C>T ENST00000563567.1 + 0 227 ARID3B_ENST00000346246.5_3'UTR Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) NA NA nucleus (GO:0005634) DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 aaatttttatCGTAGCACCAA 0.398 NA T||| 1817 0.362819 0.3533 0.4424 5008 , , NA 14752 0.5724 NA 0.1213 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10264.1 15q24 2013-02-07 2006-11-08 ENSG00000179361 ENSG00000179361 10620 - 14350 protein-coding gene gene with protein product 612457 AT rich interactive domain 3B (BRIGHT- like) NA Standard NM_006465 NM_006465 NA Approved BDP, DRIL2 uc002ayd.3 Q8IVW6 OTTHUMG00000141321 ENST00000563567.1:c.*224C>T chr15.hg19:g.74889163C>T NA O95443|Q59HC9|Q6P9C9 hg19 0.02 8.836959 TATxGTA COVERED NOVEL ARID3B-006 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000420641.1 2 11.403942 KEEP 0 2 60 59 1972 CC 1 1 0 + 10 60 379 0 0 24.62465 230 60 8019 361 ENST00000563567.1 0.041667 1 CLK3 1198 __UNKNOWN__ __UNKNOWN__ 15 74911648 74911648 __UNKNOWN__ Silent SNP G G A rs142017053 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74911648G>A ENST00000345005.4 + 2 166 c.111G>A c.(109-111)ccG>ccA p.P37P CLK3_ENST00000352989.5_Silent_p.P37P|CLK3_ENST00000395066.3_Silent_p.P185P|CLK3_ENST00000348245.3_Silent_p.P37P NM_003992.4 NP_003983.2 P49761 CLK3_HUMAN CDC-like kinase 3 185 NA protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484) cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TGCGATACCCGTCCCGAAGGG 0.587 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 17867 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Ovarian(133;694 1754 28950 29027 31859) NA 0 G , 0,4394 0,0,2197 144 125 132 555,111 -9.5 0.1 15 dbSNP_134 132 3,8589 3.0+/-9.4 0,3,4293 no coding-synonymous,coding-synonymous CLK3 NM_001130028.1,NM_003992.4 , 0,3,6490 AA,AG,GG 0.0349,0.0,0.0231 , 185/639,37/491 74911648 3,12983 2197 4296 6493 SO:0001819 synonymous_variant L29220 CCDS10265.1, CCDS45304.1 15q24 2008-05-02 ENSG00000179335 ENSG00000179335 1198 CDC-like kinases 2071 protein-coding gene gene with protein product 602990 NA 7990150, 9856501 Standard NM_003992 NA Approved clk3 uc010uln.2 P49761 OTTHUMG00000141320 ENST00000345005.4:c.111G>A chr15.hg19:g.74911648G>A NA D3DW59|Q53Y48|Q9BRS3|Q9BUJ7 hg19 CCDS10265.1 0.02 16.294267 CCCxTCC COVERED NOVEL CLK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280687.3 0 37.609655 KEEP 0 0 0 125 4264 GG 1 1 0 + 15 60 489 0 0 28.470002 397 60 13829 682 ENST00000345005.4 0.036408 1 CLK3 1198 __UNKNOWN__ __UNKNOWN__ 15 74919593 74919593 __UNKNOWN__ Intron SNP C C G rs11629749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74919593C>G ENST00000345005.4 + 8 872 CLK3_ENST00000352989.5_Intron|CLK3_ENST00000395066.3_Intron|CLK3_ENST00000348245.3_Intron NM_003992.4 NP_003983.2 P49761 CLK3_HUMAN CDC-like kinase 3 NA NA protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484) cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 GGTGTGAGGACCTCTGGCAGT 0.592 NA G||| 2184 0.436102 0.5855 0.4683 5008 , , NA 18766 0.5724 NA 0.1511 False NA ,,, NA NA NA 2504 0.364 NA NA NA Ovarian(133;694 1754 28950 29027 31859) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L29220 CCDS10265.1, CCDS45304.1 15q24 2008-05-02 ENSG00000179335 ENSG00000179335 1198 CDC-like kinases 2071 protein-coding gene gene with protein product 602990 NA 7990150, 9856501 Standard NM_003992 NA Approved clk3 uc010uln.2 P49761 OTTHUMG00000141320 ENST00000345005.4:c.818-100C>G chr15.hg19:g.74919593C>G NA D3DW59|Q53Y48|Q9BRS3|Q9BUJ7 hg19 CCDS10265.1 0.02 4.63561 GGAxCTC COVERED NOVEL CLK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280687.3 2 3.310233 KEEP 0 0 0 11 364 CC 0.993072 0.993072 0 + 12 60 442 0 0 32.556609 118 60 4252 146 ENST00000345005.4 0.092308 1 EDC3 80153 __UNKNOWN__ __UNKNOWN__ 15 74923335 74923335 __UNKNOWN__ 3'UTR SNP G G C rs1128628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:74923335G>C ENST00000315127.4 - 0 3326 NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070) cytosol (GO:0005829)|membrane (GO:0016020) identical protein binding (GO:0042802)|RNA binding (GO:0003723) breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTTTGGCCAAGAGAGGGCCCC 0.552 NA G||| 1389 0.277356 0.1687 0.4135 5008 , , NA 20169 0.4345 NA 0.0875 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011534 CCDS10267.1 15q24.1 2013-05-02 2013-05-02 2006-07-07 ENSG00000179151 ENSG00000179151 80153 26114 protein-coding gene gene with protein product 609842 yjeF domain containing (E.coli), LSM16 homolog (EDC3, S. cerevisiae), enhancer of mRNA decapping 3 homolog (S. cerevisiae) YJDC, LSM16 NA 15225602, 17533573, 22483619 Standard NM_025083 NM_025083 NA Approved FLJ21128, hYjeF_N2-15q23, YJEFN2 uc002aym.3 Q96F86 OTTHUMG00000142815 ENST00000315127.4:c.*1618C>G chr15.hg19:g.74923335G>C NA B3KPH0|D3DW61|Q9H797 hg19 CCDS10267.1 0.02 4.394195 CAAxAGA COVERED NOVEL EDC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286399.1 1 9.029304 KEEP 0 0 0 30 1063 GG 0.999997 0.999997 0 - 7 60 267 0 0 17.842086 139 60 5304 209 ENST00000315127.4 0.047945 1 LMAN1L 79748 __UNKNOWN__ __UNKNOWN__ 15 75105878 75105878 __UNKNOWN__ Intron SNP G G A rs4886620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75105878G>A ENST00000309664.5 + 1 314 LMAN1L_ENST00000379709.3_Intron NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like NA NA integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGGCATGAGAGCATCTTAGCC 0.502 NA G||| 920 0.183706 0.1558 0.1095 5008 , , NA 20198 0.1716 NA 0.0487 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF303398 CCDS10270.1 15q24.1 2005-08-05 ENSG00000140506 ENSG00000140506 79748 6632 protein-coding gene gene with protein product 609548 NA 11255007 Standard NM_021819 NA Approved ERGL, ERGIC-53L uc002ayt.1 Q9HAT1 OTTHUMG00000142813 ENST00000309664.5:c.175+508G>A chr15.hg19:g.75105878G>A NA Q6UWN2 hg19 CCDS10270.1 0.02 5.87684 AGAxCAT COVERED NOVEL LMAN1L-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286397.4 0 9.932941 KEEP 0 0 0 33 1230 GG 0.999998 0.999998 0 + 7 60 251 0 0 15.577437 174 60 6738 270 ENST00000309664.5 0.038674 1 LMAN1L 79748 __UNKNOWN__ __UNKNOWN__ 15 75113083 75113083 __UNKNOWN__ Silent SNP A A G rs1531163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75113083A>G ENST00000309664.5 + 8 1021 c.882A>G c.(880-882)aaA>aaG p.K294K LMAN1L_ENST00000379709.3_Silent_p.K282K NM_021819.2 NP_068591.2 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like 294 NA integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TAACTCCAAAATCAGACTCTG 0.617 NA G||| 1299 0.259385 0.4297 0.1239 5008 , , NA 19876 0.1746 NA 0.0517 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 G 1596,2798 663.2+/-401.2 315,966,916 76 76 76 882 -1.3 0 15 dbSNP_88 76 336,8256 804.1+/-407.3 5,326,3965 no coding-synonymous LMAN1L NM_021819.2 320,1292,4881 GG,GA,AA 3.9106,36.3223,14.8776 294/527 75113083 1932,11054 2197 4296 6493 SO:0001819 synonymous_variant AF303398 CCDS10270.1 15q24.1 2005-08-05 ENSG00000140506 ENSG00000140506 79748 6632 protein-coding gene gene with protein product 609548 NA 11255007 Standard NM_021819 NA Approved ERGL, ERGIC-53L uc002ayt.1 Q9HAT1 OTTHUMG00000142813 ENST00000309664.5:c.882A>G chr15.hg19:g.75113083A>G NA Q6UWN2 hg19 CCDS10270.1 0.02 9.608698 AAAxTCA COVERED NOVEL LMAN1L-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286397.4 2 9.603775 KEEP 0 0 0 32 1014 AA 0.999997 0.999997 0 + 9 60 352 0 0 23.364711 201 60 7143 297 ENST00000309664.5 0.042857 1 SCAMP2 10066 __UNKNOWN__ __UNKNOWN__ 15 75144543 75144543 __UNKNOWN__ Intron SNP G G A rs2305667|rs111374716 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75144543G>A ENST00000268099.9 - 4 335 NM_005697.3 NP_005688.2 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 NA NA post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 9 GAGAACAGGGGAGGTACAGGG 0.622 NA G||| 1044 0.208466 0.2231 0.1354 5008 , , NA 20650 0.1905 NA 0.0557 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 G 849,3545 315.8+/-294.3 78,693,1426 38 32 34 2.9 0 15 dbSNP_100 34 408,8182 122.2+/-181.2 12,384,3899 no intron SCAMP2 NM_005697.3 90,1077,5325 AA,AG,GG 4.7497,19.3218,9.6811 75144543 1257,11727 2197 4295 6492 SO:0001627 intron_variant AF005038 CCDS10271.1 15q23-q25 2013-02-21 ENSG00000140497 ENSG00000140497 10066 Secretory carrier membrane proteins 10564 protein-coding gene gene with protein product 606912 NA 9378760 Standard NM_005697 NM_005697 NA Approved uc002azb.1 O15127 OTTHUMG00000142817 ENST00000268099.9:c.226-16C>T chr15.hg19:g.75144543G>A NA B2RDF0|Q9BQE8 hg19 CCDS10271.1 0.02 4.499676 GGGxAGG COVERED NOVEL SCAMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286403.3 1 15.647899 KEEP 0 0 0 52 1809 GG 1 1 0 - 7 60 255 0 0 16.911935 127 60 4736 238 ENST00000268099.9 0.052239 1 GOLGA6C 653641 __UNKNOWN__ __UNKNOWN__ 15 75557692 75557692 __UNKNOWN__ Missense_Mutation SNP G G A rs199745302 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75557692G>A ENST00000300576.5 + 9 686 c.686G>A c.(685-687)cGg>cAg p.R229Q NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 229 NA Golgi apparatus (GO:0005794) ovary(1) 1 CAGCTAGAGCGGGACGAATAT 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS58388.1 15q24.2 2014-02-12 2010-02-12 ENSG00000167195 ENSG00000167195 653641 32206 protein-coding gene gene with protein product golgi autoantigen, golgin subfamily a, 6C NA Standard NM_001164404 NM_001164404 NA Approved uc002azs.2 A6NDK9 OTTHUMG00000172671 ENST00000300576.5:c.686G>A chr15.hg19:g.75557692G>A ENSP00000300576:p.Arg229Gln NA hg19 CCDS58388.1 0.02 4.032268 AGCxGGA COVERED . . . . . . . . . . A 5.903 0.350640 0.11182 . . ENSG00000167195 ENST00000300576 T 0.37915 1.17 0.167 -0.334 0.12666 . . . . . T 0.39733 0.1089 M 0.88181 2.935 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.40590 -0.9555 9 0.46703 T 0.11 . 4.6561 0.12618 0.3009:0.0:0.6991:0.0 . 229 A6NDK9 GOG6C_HUMAN Q 229 ENSP00000300576:R229Q ENSP00000300576:R229Q R + 2 0 GOLGA6C 73344745 1.000000 0.71417 0.000000 0.03702 0.000000 0.00434 2.328000 0.43867 -0.841000 0.04200 -0.849000 0.03036 CGG NOVEL GOLGA6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419797.1 0 2.375231 KEEP 4 2 54 27 930 GG 0.999997 0.999995 0 + 5 22 186 0 0 11.980546 114 47 4042 190 ENST00000300576.5 0.042017 0.999998 GOLGA6C 653641 __UNKNOWN__ __UNKNOWN__ 15 75561310 75561310 __UNKNOWN__ Intron SNP A A G rs200093221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75561310A>G ENST00000300576.5 + 14 1593 NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C NA NA Golgi apparatus (GO:0005794) ovary(1) 1 TGGTTTTCCCACCTTCTGATT 0.607 NA N||| 709 0.141573 0.1233 0.121 5008 , , NA 23337 0.1815 NA 0.1213 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS58388.1 15q24.2 2014-02-12 2010-02-12 ENSG00000167195 ENSG00000167195 653641 32206 protein-coding gene gene with protein product golgi autoantigen, golgin subfamily a, 6C NA Standard NM_001164404 NM_001164404 NA Approved uc002azs.2 A6NDK9 OTTHUMG00000172671 ENST00000300576.5:c.1593+81A>G chr15.hg19:g.75561310A>G NA hg19 CCDS58388.1 0.02 -0.279575 CCCxCCT UNCOVERED NOVEL GOLGA6C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419797.1 1 2.406808 KEEP 17 0 0 8 236 AA 0 0 0 + 8 27 241 0 0 20.105011 24 50 760 59 ENST00000300576.5 0.25 0.760887 SIN3A 25942 __UNKNOWN__ __UNKNOWN__ 15 75685175 75685175 __UNKNOWN__ Intron SNP A A C rs71401694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75685175A>C ENST00000394947.3 - 15 2592 SIN3A_ENST00000360439.4_Intron|SIN3A_ENST00000394949.4_Intron NM_001145358.1 NP_001138830.1 SIN3 transcription regulator family member A NA NA breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 ACAGAGACACAAAAGTATTCT 0.443 NA A||| 345 0.0688898 0.003 0.0605 5008 , , NA 21826 0.128 NA 0.0676 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 A ,, 45,4349 1,43,2153 49 49 49 ,, 2.3 0 15 dbSNP_130 49 556,8032 23,510,3761 no intron,intron,intron SIN3A NM_001145357.1,NM_001145358.1,NM_015477.2 ,, 24,553,5914 CC,CA,AA 6.4741,1.0241,4.6295 ,, ,, 75685175 601,12381 2197 4294 6491 SO:0001627 intron_variant AK027559 CCDS10279.1 15q22.33 2013-08-21 2013-08-21 ENSG00000169375 ENSG00000169375 25942 19353 protein-coding gene gene with protein product 607776 SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast) NA 10773092, 7601471 Standard NM_015477 NM_001145357 NA Approved KIAA0700, DKFZP434K2235 uc002bai.3 Q96ST3 OTTHUMG00000142834 ENST00000394947.3:c.2278-19T>G chr15.hg19:g.75685175A>C NA hg19 CCDS10279.1 0.02 6.006867 CACxAAA COVERED NOVEL SIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286469.1 3 15.043947 KEEP 0 0 0 50 1561 AA 1 1 0 - 7 60 249 0 0 15.245025 182 60 6634 289 ENST00000394947.3 0.037037 1 SIN3A 25942 __UNKNOWN__ __UNKNOWN__ 15 75692303 75692303 __UNKNOWN__ Intron SNP A A C rs4886699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75692303A>C ENST00000394947.3 - 12 2169 SIN3A_ENST00000360439.4_Intron|SIN3A_ENST00000394949.4_Intron NM_001145358.1 NP_001138830.1 SIN3 transcription regulator family member A NA NA breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 CATCTTAATAACCCTCAGAGA 0.413 NA C||| 2084 0.416134 0.5915 0.255 5008 , , NA 20936 0.4444 NA 0.2873 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027559 CCDS10279.1 15q22.33 2013-08-21 2013-08-21 ENSG00000169375 ENSG00000169375 25942 19353 protein-coding gene gene with protein product 607776 SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast) NA 10773092, 7601471 Standard NM_015477 NM_001145357 NA Approved KIAA0700, DKFZP434K2235 uc002bai.3 Q96ST3 OTTHUMG00000142834 ENST00000394947.3:c.1854+77T>G chr15.hg19:g.75692303A>C NA hg19 CCDS10279.1 0.02 16.006383 ATAxCCC COVERED NOVEL SIN3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286469.1 1 16.551112 KEEP 0 0 0 55 1790 AA 1 1 0 - 14 60 529 1 0 33.600664 363 60 12981 520 ENST00000394947.3 0.037135 1 IMP3 55272 __UNKNOWN__ __UNKNOWN__ 15 75932129 75932129 __UNKNOWN__ Silent SNP G G T rs13737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75932129G>T ENST00000314852.2 - 2 1324 c.381C>A c.(379-381)gcC>gcA p.A127A IMP3_ENST00000403490.1_Silent_p.A127A Q8TCT8 SPP2A_HUMAN IMP3, U3 small nucleolar ribonucleoprotein 118 PA. NA membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776) extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803) large_intestine(1) 1 CAAAGGCCACGGCAGCCTGAA 0.667 NA G||| 1973 0.39397 0.5151 0.3876 5008 , , NA 19460 0.369 NA 0.2704 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 G 2100,2294 560.2+/-380.4 504,1092,601 52 46 48 381 -6.3 0.8 15 dbSNP_52 48 2285,6303 373.1+/-336.9 301,1683,2310 no coding-synonymous IMP3 NM_018285.3 805,2775,2911 TT,TG,GG 26.6069,47.7924,33.7775 127/185 75932129 4385,8597 2197 4294 6491 SO:0001819 synonymous_variant AB051628 CCDS10282.1 15q24 2014-02-19 2014-02-19 2005-07-14 ENSG00000177971 ENSG00000177971 55272 14497 protein-coding gene gene with protein product 612980 mitochondrial ribosomal protein S4, chromosome 15 open reading frame 12, IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) MRPS4, C15orf12 NA 11543634, 12655004 Standard NM_018285 NM_018285 NA Approved FLJ10968, BRMS2 uc010bkl.2 Q9NV31 OTTHUMG00000142840 ENST00000314852.2:c.381C>A chr15.hg19:g.75932129G>T NA B2RDS0|Q8TAW1|Q96SZ8 hg19 CCDS10282.1 0.02 6.640232 CACxGCA COVERED NOVEL IMP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286476.1 4 27.550686 KEEP 0 0 0 92 2940 GG 1 1 0 - 10 60 359 0 0 23.790325 175 60 6016 313 ENST00000314852.2 0.054054 1 CSPG4 1464 __UNKNOWN__ __UNKNOWN__ 15 75982058 75982058 __UNKNOWN__ Missense_Mutation SNP T T A rs147116973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:75982058T>A ENST00000308508.5 - 3 1440 c.1348A>T c.(1348-1350)Agg>Tgg p.R450W NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 450 Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}. NA activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202) protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGCACATGCCTCCACTCAAGC 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 53 52 53 NA NA 15 NA 75982058 2197 4293 6490 SO:0001583 missense X96753, AY359468 CCDS10284.1 15q24.2 2010-04-19 2007-02-16 ENSG00000173546 ENSG00000173546 1464 Proteoglycans / Cell surface : Other 2466 protein-coding gene gene with protein product melanoma-associated chondroitin sulfate proteoglycan 601172 chondroitin sulfate proteoglycan 4 (melanoma-associated) NA 8790396, 16407841 Standard NM_001897 NM_001897 NA Approved MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA uc002baw.3 Q6UVK1 OTTHUMG00000142836 ENST00000308508.5:c.1348A>T chr15.hg19:g.75982058T>A ENSP00000312506:p.Arg450Trp NA D3DW77|Q92675 hg19 CCDS10284.1 0.02 6.868728 GCCxCCA COVERED . . . . . . . . . . . 10.03 1.238374 0.22711 . . ENSG00000173546 ENST00000308508 T 0.20332 2.08 5.26 3.18 0.36537 . 0.318723 0.26328 N 0.025018 T 0.24044 0.0582 M 0.65498 2.005 0.22330 N 0.999195 D 0.55800 0.973 B 0.43754 0.43 T 0.16541 -1.0399 10 0.87932 D 0 . 9.1439 0.36921 0.0:0.1134:0.5474:0.3393 . 450 Q6UVK1 CSPG4_HUMAN W 450 ENSP00000312506:R450W ENSP00000312506:R450W R - 1 2 CSPG4 73769113 0.968000 0.33430 0.998000 0.56505 0.385000 0.30292 1.547000 0.36190 1.229000 0.43630 -0.238000 0.12139 AGG NOVEL CSPG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000286472.1 4 7.386294 KEEP 0 2 61 46 1394 TT 1 1 0 - 13 49 490 1 0 35.700746 145 60 5172 243 ENST00000308508.5 0.082278 1 SCAPER 49855 __UNKNOWN__ __UNKNOWN__ 15 76995150 76995150 __UNKNOWN__ Intron SNP G G A rs2930681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:76995150G>A ENST00000563290.1 - 19 2496 SCAPER_ENST00000324767.7_Intron|SCAPER_ENST00000538941.2_Intron Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER NA NA endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) metal ion binding (GO:0046872) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ATAAACTTTAGTAGTAAACTA 0.383 NA G||| 755 0.150759 0.2685 0.0879 5008 , , NA 19087 0.1161 NA 0.1093 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 G , 865,2801 115,635,1083 61 61 61 , -1.6 0 15 dbSNP_101 61 1061,7133 82,897,3118 no intron,intron SCAPER NM_001145923.1,NM_020843.2 , 197,1532,4201 AA,AG,GG 12.9485,23.5952,16.2395 , , 76995150 1926,9934 1833 4097 5930 SO:0001627 intron_variant AB040887, AF242528 CCDS53961.1, CCDS53962.1 15q24.3 2012-10-05 2009-03-11 2007-08-20 ENSG00000140386 ENSG00000140386 49855 Zinc fingers, C2H2-type 13081 protein-coding gene gene with protein product 611611 zinc finger protein 291 ZNF291 NA 17698606 Standard NM_020843 NM_020843 NA Approved Zfp291 uc002bby.3 Q9BY12 OTTHUMG00000172655 ENST00000563290.1:c.2400+40C>T chr15.hg19:g.76995150G>A NA F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274 hg19 CCDS53962.1 0.02 6.260876 TTAxTAG COVERED NOVEL SCAPER-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419698.1 3 6.019382 KEEP 0 0 0 20 703 GG 0.999863 0.999863 0 - 7 60 254 0 0 16.259492 153 60 5815 199 ENST00000563290.1 0.04375 1 PSTPIP1 9051 __UNKNOWN__ __UNKNOWN__ 15 77323660 77323660 __UNKNOWN__ Intron SNP C C T rs3812916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:77323660C>T ENST00000558012.1 + 10 1230 PSTPIP1_ENST00000557995.1_Intron|PSTPIP1_ENST00000379595.3_Intron|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000559295.1_Intron NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 NA NA cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165) actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725) breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GGTAGGGCAGCCTCTAGGCAG 0.622 NA C||| 292 0.0583067 0.1339 0.0115 5008 , , NA 18187 0.0546 NA 0.0169 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 C 372,3856 13,346,1755 62 69 66 -1.8 0 15 dbSNP_107 66 113,8331 0,113,4109 no intron PSTPIP1 NM_003978.3 13,459,5864 TT,TC,CC 1.3382,8.7985,3.8273 77323660 485,12187 2114 4222 6336 SO:0001627 intron_variant U94778 CCDS45312.1 15q24.3 2014-09-17 ENSG00000140368 ENSG00000140368 9051 9580 protein-coding gene gene with protein product CD2 cytoplasmic tail-binding protein, CD2 antigen-binding protein 1, PEST phosphatase-interacting protein 1 606347 NA 9857189 Standard NM_003978 NM_003978 NA Approved PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS uc002bcf.2 O43586 OTTHUMG00000172594 ENST00000558012.1:c.741+41C>T chr15.hg19:g.77323660C>T NA B5BU74|B5BUK4|O43585|O95657 hg19 CCDS45312.1 0.02 6.071815 CAGxCTC COVERED NOVEL PSTPIP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419373.2 0 12.340427 KEEP 0 0 0 41 1489 CC 1 1 0 + 9 60 329 0 0 21.404361 184 60 6716 296 ENST00000558012.1 0.046632 1 PSTPIP1 9051 __UNKNOWN__ __UNKNOWN__ 15 77325279 77325279 __UNKNOWN__ Silent SNP C C T rs11858480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:77325279C>T ENST00000558012.1 + 12 1404 c.915C>T c.(913-915)tgC>tgT p.C305C PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Silent_p.C305C|PSTPIP1_ENST00000267939.5_Intron|PSTPIP1_ENST00000559295.1_Intron NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 305 NA cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165) actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725) breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 AGCCGTCCTGCGGCATGATAA 0.647 NA C||| 288 0.057508 0.1241 0.013 5008 , , NA 18085 0.0595 NA 0.0189 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 C 328,3590 11,306,1642 17 18 18 915 -9.3 0.1 15 dbSNP_120 18 127,8137 0,127,4005 no coding-synonymous PSTPIP1 NM_003978.3 11,433,5647 TT,TC,CC 1.5368,8.3716,3.735 305/417 77325279 455,11727 1959 4132 6091 SO:0001819 synonymous_variant U94778 CCDS45312.1 15q24.3 2014-09-17 ENSG00000140368 ENSG00000140368 9051 9580 protein-coding gene gene with protein product CD2 cytoplasmic tail-binding protein, CD2 antigen-binding protein 1, PEST phosphatase-interacting protein 1 606347 NA 9857189 Standard NM_003978 NM_003978 NA Approved PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS uc002bcf.2 O43586 OTTHUMG00000172594 ENST00000558012.1:c.915C>T chr15.hg19:g.77325279C>T NA B5BU74|B5BUK4|O43585|O95657 hg19 CCDS45312.1 0.02 6.267015 CTGxGGC COVERED NOVEL PSTPIP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000419373.2 0 6.621648 KEEP 0 0 0 22 782 CC 0.999879 0.999879 0 + 6 60 221 0 0 13.514166 176 60 6508 248 ENST00000558012.1 0.032967 1 LINGO1 84894 __UNKNOWN__ __UNKNOWN__ 15 77907145 77907145 __UNKNOWN__ Silent SNP G G A rs3743481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:77907145G>A ENST00000355300.6 - 2 1278 c.1104C>T c.(1102-1104)tcC>tcT p.S368S LINGO1_ENST00000561030.1_Silent_p.S362S NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 368 NA central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 CCAGCGGGTTGGAGTCCAGGA 0.637 NA G||| 2604 0.519968 0.5666 0.4164 5008 , , NA 17828 0.5952 NA 0.4056 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 G 2162,2064 575,1012,526 42 45 44 1104 4.9 1 15 dbSNP_107 44 3157,5271 564,2029,1621 no coding-synonymous LINGO1 NM_032808.5 1139,3041,2147 AA,AG,GG 37.4585,48.8405,42.0341 368/621 77907145 5319,7335 2113 4214 6327 SO:0001819 synonymous_variant AK027500 CCDS45313.1, CCDS73766.1 15q24 2013-01-11 2007-02-01 2007-02-01 ENSG00000169783 84894 Immunoglobulin superfamily / I-set domain containing 21205 protein-coding gene gene with protein product 609791 leucine rich repeat neuronal 6A LRRN6A NA 14686891 Standard NM_032808 XM_006720723 NA Approved FLJ14594, LERN1 uc002bct.1 Q96FE5 ENST00000355300.6:c.1104C>T chr15.hg19:g.77907145G>A NA D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52 hg19 CCDS45313.1 0.02 6.365415 GTTxGAG COVERED NOVEL LINGO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419546.1 2 13.242993 KEEP 0 0 0 44 1541 GG 1 1 0 - 7 60 218 0 0 12.887856 164 60 6028 252 ENST00000355300.6 0.040936 1 LINGO1 84894 __UNKNOWN__ __UNKNOWN__ 15 77907535 77907535 __UNKNOWN__ Silent SNP C C G rs2271396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:77907535C>G ENST00000355300.6 - 2 888 c.714G>C c.(712-714)ctG>ctC p.L238L LINGO1_ENST00000561030.1_Silent_p.L232L NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 238 NA central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 TGAGTCGGTACAGCCTCTTGA 0.602 NA C||| 3596 0.718051 0.6846 0.6556 5008 , , NA 20852 0.8016 NA 0.6461 False NA ,,, NA NA NA 2504 0.7955 NA NA NA NA 0 C 2976,1376 1020,936,220 117 126 123 714 3.5 1 15 dbSNP_100 123 5449,3111 1721,2007,552 no coding-synonymous LINGO1 NM_032808.5 2741,2943,772 GG,GC,CC 36.3435,31.6176,34.7506 238/621 77907535 8425,4487 2176 4280 6456 SO:0001819 synonymous_variant AK027500 CCDS45313.1, CCDS73766.1 15q24 2013-01-11 2007-02-01 2007-02-01 ENSG00000169783 84894 Immunoglobulin superfamily / I-set domain containing 21205 protein-coding gene gene with protein product 609791 leucine rich repeat neuronal 6A LRRN6A NA 14686891 Standard NM_032808 XM_006720723 NA Approved FLJ14594, LERN1 uc002bct.1 Q96FE5 ENST00000355300.6:c.714G>C chr15.hg19:g.77907535C>G NA D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52 hg19 CCDS45313.1 0.02 13.680449 GTAxAGC COVERED NOVEL LINGO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419546.1 2 8.72809 KEEP 0 0 0 29 1021 CC 0.999997 0.999997 0 - 12 60 443 0 0 27.929572 301 60 11381 403 ENST00000355300.6 0.038339 1 LINGO1 84894 __UNKNOWN__ __UNKNOWN__ 15 77907775 77907775 __UNKNOWN__ Silent SNP T T C rs2271397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:77907775T>C ENST00000355300.6 - 2 648 c.474A>G c.(472-474)ctA>ctG p.L158L LINGO1_ENST00000561030.1_Silent_p.L152L NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 158 NA central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 TGTAGTCCAGTAGGATAACGA 0.552 NA C||| 3626 0.724042 0.6838 0.6556 5008 , , NA 21838 0.8304 NA 0.6461 False NA ,,, NA NA NA 2504 0.7975 NA NA NA NA 0 C 2934,1348 1017,900,224 130 135 133 474 3.7 1 15 dbSNP_100 133 5399,3075 1703,1993,541 no coding-synonymous LINGO1 NM_032808.5 2720,2893,765 CC,CT,TT 36.2875,31.4806,34.6739 158/621 77907775 8333,4423 2141 4237 6378 SO:0001819 synonymous_variant AK027500 CCDS45313.1, CCDS73766.1 15q24 2013-01-11 2007-02-01 2007-02-01 ENSG00000169783 84894 Immunoglobulin superfamily / I-set domain containing 21205 protein-coding gene gene with protein product 609791 leucine rich repeat neuronal 6A LRRN6A NA 14686891 Standard NM_032808 XM_006720723 NA Approved FLJ14594, LERN1 uc002bct.1 Q96FE5 ENST00000355300.6:c.474A>G chr15.hg19:g.77907775T>C NA D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52 hg19 CCDS45313.1 0.02 16.634029 CAGxAGG COVERED NOVEL LINGO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419546.1 4 5.283838 KEEP 0 2 73 43 1267 TT 1 1 0 - 15 60 553 1 0 35.652076 336 60 11900 454 ENST00000355300.6 0.042735 1 LINGO1 84894 __UNKNOWN__ __UNKNOWN__ 15 77907784 77907784 __UNKNOWN__ Silent SNP G G A rs2271398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:77907784G>A ENST00000355300.6 - 2 639 c.465C>T c.(463-465)atC>atT p.I155I LINGO1_ENST00000561030.1_Silent_p.I149I NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 155 NA central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GTAGGATAACGATCTTGTTCT 0.562 NA G||| 3584 0.715655 0.6831 0.6527 5008 , , NA 22015 0.7937 NA 0.6461 False NA ,,, NA NA NA 2504 0.7955 NA NA NA NA 0 G 2922,1350 1008,906,222 123 128 127 465 1.7 1 15 dbSNP_100 127 5385,3093 1694,1997,548 no coding-synonymous LINGO1 NM_032808.5 2702,2903,770 AA,AG,GG 36.4827,31.6011,34.8471 155/621 77907784 8307,4443 2136 4239 6375 SO:0001819 synonymous_variant AK027500 CCDS45313.1, CCDS73766.1 15q24 2013-01-11 2007-02-01 2007-02-01 ENSG00000169783 84894 Immunoglobulin superfamily / I-set domain containing 21205 protein-coding gene gene with protein product 609791 leucine rich repeat neuronal 6A LRRN6A NA 14686891 Standard NM_032808 XM_006720723 NA Approved FLJ14594, LERN1 uc002bct.1 Q96FE5 ENST00000355300.6:c.465C>T chr15.hg19:g.77907784G>A NA D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52 hg19 CCDS45313.1 0.02 15.909898 AACxATC COVERED NOVEL LINGO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000419546.1 3 6.988255 KEEP 0 2 62 45 1453 GG 1 1 0 - 15 60 572 0 0 37.399282 339 60 11953 469 ENST00000355300.6 0.042373 1 TBC1D2B 23102 __UNKNOWN__ __UNKNOWN__ 15 78369815 78369815 __UNKNOWN__ Silent SNP G G A rs9047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78369815G>A ENST00000300584.3 - 1 179 c.180C>T c.(178-180)ttC>ttT p.F60F TBC1D2B_ENST00000409931.3_Silent_p.F60F NM_015079.5|NM_144572.1 NP_055894.6|NP_653173.1 Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 60 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA Rab GTPase activator activity (GO:0005097) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GGCGCGCGTCGAACACGAACC 0.687 NA G||| 899 0.179513 0.0424 0.1542 5008 , , NA 8310 0.3363 NA 0.1869 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 4 9 7 NA NA 15 NA 78369815 618 1485 2103 SO:0001819 synonymous_variant AB028978 CCDS32301.2, CCDS45314.1 15q24.3-q25.1 2005-11-29 ENSG00000167202 ENSG00000167202 23102 29183 protein-coding gene gene with protein product NA 10470851 Standard NM_015079 NM_015079 NA Approved KIAA1055 uc002bcy.4 Q9UPU7 OTTHUMG00000152885 ENST00000300584.3:c.180C>T chr15.hg19:g.78369815G>A NA A7MD42|Q8N1F9|Q9NXM0 hg19 CCDS45314.1 0.02 4.200035 GTCxAAC COVERED NOVEL TBC1D2B-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000328369.3 0 39.29182 KEEP 0 2 61 152 5153 GG 1 1 0 - 5 60 186 0 0 11.718266 129 60 4667 421 ENST00000300584.3 0.037313 1 SH2D7 646892 __UNKNOWN__ __UNKNOWN__ 15 78390414 78390414 __UNKNOWN__ Missense_Mutation SNP T T C rs2289524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78390414T>C ENST00000328828.5 + 3 410 c.410T>C c.(409-411)aTg>aCg p.M137T SH2D7_ENST00000409568.2_Start_Codon_SNP_p.M1T NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 137 SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}. NA M -> T (in dbSNP:rs2289524). endometrium(2)|kidney(2)|lung(3) 7 TTCAAAGAGATGCTGACTGCT 0.617 NA c||| 2092 0.417732 0.5287 0.3415 5008 , , NA 18189 0.252 NA 0.4493 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 THR/MET 2159,2021 581,997,512 31 34 33 410 1.3 1 15 dbSNP_100 33 3563,4831 757,2049,1391 yes missense SH2D7 NM_001101404.1 81 1338,3046,1903 CC,CT,TT 42.447,48.3493,45.5066 benign 137/452 78390414 5722,6852 2090 4197 6287 SO:0001583 missense CCDS45315.1 15q25.1 2013-02-14 ENSG00000183476 ENSG00000183476 646892 SH2 domain containing 34549 protein-coding gene gene with protein product NA Standard NM_001101404 NM_001101404 NA Approved LOC646892 uc010blb.1 A6NKC9 OTTHUMG00000154271 ENST00000328828.5:c.410T>C chr15.hg19:g.78390414T>C ENSP00000327846:p.Met137Thr NA hg19 CCDS45315.1 0.02 19.488657 AGAxGCT COVERED 910 0.4166666666666667 260 0.5284552845528455 149 0.4116022099447514 159 0.27797202797202797 342 0.45118733509234826 c 4.851 0.158248 0.09236 0.516507 0.42447 ENSG00000183476 ENST00000409568;ENST00000328828 T;T 0.39592 1.49;1.07 4.73 1.28 0.21552 SH2 motif (2); . . . . T 0.00012 0.0000 N 0.02865 -0.47 0.54753 P 1.3000000000040757E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.46978 -0.9152 8 0.05351 T 0.99 . 4.7848 0.13220 0.2197:0.5727:0.12:0.0876 rs2289524;rs17399674;rs59279842;rs2289524 137 A6NKC9 SH2D7_HUMAN T 1;137 ENSP00000386676:M1T;ENSP00000327846:M137T ENSP00000327846:M137T M + 2 0 SH2D7 76177469 0.104000 0.21937 0.971000 0.41717 0.037000 0.13140 0.337000 0.19841 0.420000 0.25954 -1.338000 0.01255 ATG NOVEL SH2D7-002 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000334660.2 1 11.869192 KEEP 0 1 36 52 1591 TT 1 1 0 + 15 60 524 0 0 30.155066 498 60 18125 627 ENST00000328828.5 0.02924 1 CIB2 10518 __UNKNOWN__ __UNKNOWN__ 15 78397846 78397846 __UNKNOWN__ Intron SNP T T C rs7164338 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78397846T>C ENST00000258930.3 - 6 871 CIB2_ENST00000539011.1_Intron|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_3'UTR NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 NA NA calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494) blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 GGAACAGCGGTGCCCAGGGAG 0.612 NA T||| 870 0.173722 0.0756 0.196 5008 , , NA 17768 0.1518 NA 0.2793 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC047381 CCDS10296.1, CCDS61722.1, CCDS61723.1 15q24 2013-01-10 ENSG00000136425 ENSG00000136425 10518 EF-hand domain containing 24579 protein-coding gene gene with protein product 605564 deafness, autosomal recessive 48, Usher syndrome 1J (autosomal recessive) DFNB48, USH1J NA 9931475, 23023331 Standard NM_006383 NM_006383 NA Approved KIP2 uc002bdb.2 O75838 OTTHUMG00000143731 ENST00000258930.3:c.543-172A>G chr15.hg19:g.78397846T>C NA B4DDF0|H0YM71|Q05BT6 hg19 CCDS10296.1 0.02 4.549157 CGGxGCC COVERED NOVEL CIB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289798.1 2 6.318254 KEEP 0 0 0 21 647 TT 0.999869 0.999867 0 - 6 60 199 0 0 12.541725 111 60 3822 169 ENST00000258930.3 0.051282 0.999998 CIB2 10518 __UNKNOWN__ __UNKNOWN__ 15 78423479 78423479 __UNKNOWN__ Intron SNP T T C rs8040395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78423479T>C ENST00000258930.3 - 1 380 CIB2_ENST00000539011.1_Intron|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_Intron NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 NA NA calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494) blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 gcggggccTGTGTTGGGGGCC 0.697 NA C||| 2066 0.41254 0.4909 0.3401 5008 , , NA 7282 0.2589 NA 0.4622 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 C 2016,2296 524,968,664 9 11 10 0.5 0 15 dbSNP_116 10 3642,4800 847,1948,1426 no intron CIB2 NM_006383.2 1371,2916,2090 CC,CT,TT 43.1414,46.7532,44.3626 78423479 5658,7096 2156 4221 6377 SO:0001627 intron_variant BC047381 CCDS10296.1, CCDS61722.1, CCDS61723.1 15q24 2013-01-10 ENSG00000136425 ENSG00000136425 10518 EF-hand domain containing 24579 protein-coding gene gene with protein product 605564 deafness, autosomal recessive 48, Usher syndrome 1J (autosomal recessive) DFNB48, USH1J NA 9931475, 23023331 Standard NM_006383 NM_006383 NA Approved KIP2 uc002bdb.2 O75838 OTTHUMG00000143731 ENST00000258930.3:c.51+27A>G chr15.hg19:g.78423479T>C NA B4DDF0|H0YM71|Q05BT6 hg19 CCDS10296.1 0.02 8.186164 CTGxGTT COVERED NOVEL CIB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289798.1 2 18.219134 KEEP 0 5 176 122 3646 TT 1 1 0 - 7 60 252 0 0 14.721458 240 60 7862 523 ENST00000258930.3 0.02834 1 CIB2 10518 __UNKNOWN__ __UNKNOWN__ 15 78423596 78423596 __UNKNOWN__ 5'UTR SNP A A C rs11547207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78423596A>C ENST00000258930.3 - 0 290 CIB2_ENST00000539011.1_5'UTR|CIB2_ENST00000557846.1_5'UTR|CIB2_ENST00000560618.1_5'UTR NM_006383.2 NP_006374.1 O75838 CIB2_HUMAN calcium and integrin binding family member 2 NA NA calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494) blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 ccgggcTCCGACTCCCATCAG 0.751 NA C||| 1442 0.287939 0.4607 0.2061 5008 , , NA 5633 0.1359 NA 0.2525 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 C 1682,2568 339,1004,782 8 9 9 3.6 1 15 dbSNP_120 9 1967,6391 257,1453,2469 no utr-5 CIB2 NM_006383.2 596,2457,3251 CC,CA,AA 23.5343,39.5765,28.9419 78423596 3649,8959 2125 4179 6304 SO:0001623 5_prime_UTR_variant BC047381 CCDS10296.1, CCDS61722.1, CCDS61723.1 15q24 2013-01-10 ENSG00000136425 ENSG00000136425 10518 EF-hand domain containing 24579 protein-coding gene gene with protein product 605564 deafness, autosomal recessive 48, Usher syndrome 1J (autosomal recessive) DFNB48, USH1J NA 9931475, 23023331 Standard NM_006383 NM_006383 NA Approved KIP2 uc002bdb.2 O75838 OTTHUMG00000143731 ENST00000258930.3:c.-39T>G chr15.hg19:g.78423596A>C NA B4DDF0|H0YM71|Q05BT6 hg19 CCDS10296.1 0.02 9.540124 CCGxCTC COVERED NOVEL CIB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289798.1 0 36.333627 KEEP 0 0 0 121 3572 AA 1 1 0 - 9 60 287 0 0 17.3796 232 60 7665 514 ENST00000258930.3 0.037344 1 IDH3A 3419 __UNKNOWN__ __UNKNOWN__ 15 78458485 78458485 __UNKNOWN__ Intron SNP T T C rs3816253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78458485T>C ENST00000299518.2 + 10 947 IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000558535.1_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000561366.1_Intron NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha NA NA carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287) endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 CTTTTCCCGATGTGTAGGTTC 0.512 NA T||| 1878 0.375 0.4879 0.3991 5008 , , NA 20967 0.1885 NA 0.4344 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 T 2153,2239 582.4+/-385.6 520,1113,563 123 111 115 -7.3 0 15 dbSNP_107 115 3770,4816 535.6+/-382.8 817,2136,1340 no intron IDH3A NM_005530.2 1337,3249,1903 CC,CT,TT 43.9087,49.0209,45.6388 78458485 5923,7055 2196 4293 6489 SO:0001627 intron_variant CCDS10297.1 15q25.1-q25.2 2008-07-18 ENSG00000166411 ENSG00000166411 3419 1.1.1.41 5384 protein-coding gene gene with protein product H-IDH alpha, isocitric dehydrogenase, isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial, NAD+-specific ICDH, NAD(H)-specific isocitrate dehydrogenase alpha subunit, isocitrate dehydrogenase (NAD+) alpha chain 601149 NA 8833160 Standard NM_005530 NM_005530 NA Approved uc002bdd.3 P50213 OTTHUMG00000143732 ENST00000299518.2:c.865-7T>C chr15.hg19:g.78458485T>C NA D3DW83|Q9H3X0 hg19 CCDS10297.1 0.02 13.115812 CGAxGTG COVERED NOVEL IDH3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289799.4 4 9.024646 KEEP 0 0 0 30 866 TT 0.999997 0.999997 0 + 12 60 449 0 0 28.216937 320 60 11242 375 ENST00000299518.2 0.036145 1 IDH3A 3419 __UNKNOWN__ __UNKNOWN__ 15 78458797 78458797 __UNKNOWN__ Intron SNP C C T rs2304825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78458797C>T ENST00000299518.2 + 10 1100 IDH3A_ENST00000441490.2_Intron|IDH3A_ENST00000558554.1_Intron|IDH3A_ENST00000558535.1_Intron|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000561366.1_3'UTR NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha NA NA carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287) endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 CCAGATTGAACAGGGTATGTG 0.418 NA C||| 1827 0.364816 0.4841 0.3458 5008 , , NA 22267 0.1855 NA 0.4304 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10297.1 15q25.1-q25.2 2008-07-18 ENSG00000166411 ENSG00000166411 3419 1.1.1.41 5384 protein-coding gene gene with protein product H-IDH alpha, isocitric dehydrogenase, isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial, NAD+-specific ICDH, NAD(H)-specific isocitrate dehydrogenase alpha subunit, isocitrate dehydrogenase (NAD+) alpha chain 601149 NA 8833160 Standard NM_005530 NM_005530 NA Approved uc002bdd.3 P50213 OTTHUMG00000143732 ENST00000299518.2:c.1017+153C>T chr15.hg19:g.78458797C>T NA D3DW83|Q9H3X0 hg19 CCDS10297.1 0.02 28.218245 GAAxAGG COVERED NOVEL IDH3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289799.4 8 32.807245 KEEP 0 0 0 109 3915 CC 1 1 0 + 22 60 774 0 0 44.89963 721 60 27669 1000 ENST00000299518.2 0.02961 1 ACSBG1 23205 __UNKNOWN__ __UNKNOWN__ 15 78466127 78466127 __UNKNOWN__ Missense_Mutation SNP T T C rs2304824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78466127T>C ENST00000258873.4 - 13 2102 c.1897A>G c.(1897-1899)Atg>Gtg p.M633V ACSBG1_ENST00000541759.1_Missense_Mutation_p.M391V|ACSBG1_ENST00000560817.1_Missense_Mutation_p.M391V NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 633 NA M -> V (in dbSNP:rs2304824). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9734811, ECO:0000269|Ref.6}. long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783) ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957) endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CAGAACTCCATAGCTTGTTCA 0.537 NA C||| 2638 0.526757 0.73 0.4409 5008 , , NA 21424 0.2867 NA 0.498 False NA ,,, NA NA NA 2504 0.59 NA NA NA NA 0 C VAL/MET,VAL/MET 3021,1371 453.4+/-350.3 1031,959,206 77 67 70 1885,1897 0 0.4 15 dbSNP_100 70 4289,4297 576.6+/-390.4 1074,2141,1078 yes missense,missense ACSBG1 NM_001199377.1,NM_015162.4 21,21 2105,3100,1284 CC,CT,TT 49.9534,31.2158,43.6739 benign,benign 629/721,633/725 78466127 7310,5668 2196 4293 6489 SO:0001583 missense AB014531 CCDS10298.1 15q23-q24 2006-02-09 ENSG00000103740 ENSG00000103740 23205 Acyl-CoA synthetase family 29567 protein-coding gene gene with protein product bubblegum, very long-chain acyl-CoA synthetase, lipidosin 614362 NA 9734811, 10954726 Standard NM_015162 NM_015162 NA Approved BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG uc002bdh.3 Q96GR2 OTTHUMG00000143734 ENST00000258873.4:c.1897A>G chr15.hg19:g.78466127T>C ENSP00000258873:p.Met633Val NA B2RB61|O75126|Q76N27|Q9HC26 hg19 CCDS10298.1 0.02 6.449454 CCAxAGC COVERED 1073 0.4913003663003663 358 0.7276422764227642 175 0.48342541436464087 165 0.28846153846153844 375 0.4947229551451187 C 1.769 -0.484813 0.04352 0.687842 0.499534 ENSG00000103740 ENST00000258873;ENST00000541759 T;T 0.34275 1.71;1.37 5.35 -0.0403 0.13872 . 0.487637 0.19405 N 0.115080 T 0.00012 0.0000 N 0.00583 -1.355 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.33727 -0.9857 9 0.12103 T 0.63 -14.1277 0.1445 0.00087 0.2497:0.228:0.2448:0.2775 rs2304824;rs17605786;rs17855404;rs61080752;rs2304824 633 Q96GR2 ACBG1_HUMAN V 633;391 ENSP00000258873:M633V;ENSP00000439955:M391V ENSP00000258873:M633V M - 1 0 ACSBG1 76253182 0.000000 0.05858 0.394000 0.26270 0.853000 0.48598 -0.598000 0.05706 0.105000 0.17753 -0.186000 0.12905 ATG NOVEL ACSBG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289802.2 0 8.424474 KEEP 0 0 0 28 864 TT 0.999997 0.999997 0 - 8 60 300 0 0 19.531323 176 60 6277 257 ENST00000258873.4 0.043478 1 ACSBG1 23205 __UNKNOWN__ __UNKNOWN__ 15 78474476 78474476 __UNKNOWN__ Silent SNP C C T rs2304823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78474476C>T ENST00000258873.4 - 8 1111 c.906G>A c.(904-906)acG>acA p.T302T ACSBG1_ENST00000541759.1_Silent_p.T60T|ACSBG1_ENST00000560817.1_Silent_p.T60T NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 302 NA long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783) ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957) endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CGTACCGTGCCGTCCACGTGA 0.647 NA C||| 450 0.0898562 0.0825 0.0706 5008 , , NA 15178 0.1577 NA 0.0308 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 C , 291,4101 13,265,1918 33 34 34 894,906 -6.7 0.7 15 dbSNP_100 34 144,8440 1,142,4149 no coding-synonymous,coding-synonymous ACSBG1 NM_001199377.1,NM_015162.4 , 14,407,6067 TT,TC,CC 1.6775,6.6257,3.3523 , 298/721,302/725 78474476 435,12541 2196 4292 6488 SO:0001819 synonymous_variant AB014531 CCDS10298.1 15q23-q24 2006-02-09 ENSG00000103740 ENSG00000103740 23205 Acyl-CoA synthetase family 29567 protein-coding gene gene with protein product bubblegum, very long-chain acyl-CoA synthetase, lipidosin 614362 NA 9734811, 10954726 Standard NM_015162 NM_015162 NA Approved BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG uc002bdh.3 Q96GR2 OTTHUMG00000143734 ENST00000258873.4:c.906G>A chr15.hg19:g.78474476C>T NA B2RB61|O75126|Q76N27|Q9HC26 hg19 CCDS10298.1 0.02 6.13563 TGCxGTC COVERED NOVEL ACSBG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000289802.2 0 12.037023 KEEP 0 0 0 40 1340 CC 1 1 0 - 9 60 326 0 0 21.021944 188 60 6283 284 ENST00000258873.4 0.045685 1 DNAJA4 55466 __UNKNOWN__ __UNKNOWN__ 15 78565478 78565478 __UNKNOWN__ Silent SNP C C T rs7163689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78565478C>T ENST00000446172.2 + 3 336 c.274C>T c.(274-276)Cta>Tta p.L92L DNAJA4_ENST00000394852.3_Silent_p.L119L|DNAJA4_ENST00000394855.3_Silent_p.L148L|DNAJA4_ENST00000343789.3_Silent_p.L119L NM_001130183.1 NP_001123655.1 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 119 Gly-rich. NA negative regulation of inclusion body assembly (GO:0090084)|protein refolding (GO:0042026)|response to heat (GO:0009408) cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 TCTTGAAGATCTATATAATGG 0.333 NA T||| 2167 0.432708 0.3343 0.4251 5008 , , NA 18862 0.4306 NA 0.503 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 T ,, 1715,2677 644.8+/-398.1 337,1041,818 103 109 107 355,274,442 2.9 1 15 dbSNP_116 107 4564,4022 554.5+/-386.5 1241,2082,970 no coding-synonymous,coding-synonymous,coding-synonymous DNAJA4 NM_001130182.1,NM_001130183.1,NM_018602.3 ,, 1578,3123,1788 TT,TC,CC 46.8437,39.0483,48.3819 ,, 119/398,92/371,148/427 78565478 6279,6699 2196 4293 6489 SO:0001819 synonymous_variant AF116663 CCDS10299.2, CCDS45316.1, CCDS45317.1 15q24.1 2011-09-02 ENSG00000140403 ENSG00000140403 55466 Heat shock proteins / DNAJ (HSP40) 14885 protein-coding gene gene with protein product NA 11147971 Standard NM_018602 NM_018602 NA Approved PRO1472 uc002bdi.3 Q8WW22 OTTHUMG00000143733 ENST00000446172.2:c.274C>T chr15.hg19:g.78565478C>T NA E9PDM9|Q6AW87|Q8N5Z4|Q8N7P2 hg19 CCDS45317.1 0.02 3.839505 GATxTAT COVERED NOVEL DNAJA4-006 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000347701.2 1 11.069249 KEEP 0 1 14 42 1421 CC 1 1 0 + 7 60 250 0 0 16.252977 134 60 5172 228 ENST00000446172.2 0.049645 1 IREB2 3658 __UNKNOWN__ __UNKNOWN__ 15 78766194 78766194 __UNKNOWN__ Intron SNP T T A rs4299116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78766194T>A ENST00000258886.8 + 8 1172 IREB2_ENST00000560440.1_3'UTR NM_004136.2 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 NA NA aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TACTTGAATTTAAAAAAAATG 0.294 NA T||| 2163 0.431909 0.239 0.4553 5008 , , NA 17759 0.4613 NA 0.6004 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NSCLC(200;764 2208 35157 49871 50830) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M58511 CCDS10302.1 15q25.1 2013-09-20 ENSG00000136381 ENSG00000136381 3658 6115 protein-coding gene gene with protein product 147582 NA 2172968 Standard NM_004136 NM_004136 NA Approved IRP2 uc002bdr.2 P48200 OTTHUMG00000143861 ENST00000258886.8:c.1023+471T>A chr15.hg19:g.78766194T>A NA A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17 hg19 CCDS10302.1 0.02 7.973687 ATTxAAA COVERED NOVEL IREB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000290109.3 3 19.555156 KEEP 0 0 0 65 1930 TT 1 1 0 + 8 60 274 1 0 16.047182 229 60 8187 352 ENST00000258886.8 0.033755 1 IREB2 3658 __UNKNOWN__ __UNKNOWN__ 15 78766629 78766629 __UNKNOWN__ Intron SNP C C T rs1504549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:78766629C>T ENST00000258886.8 + 8 1172 IREB2_ENST00000560440.1_3'UTR NM_004136.2 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 NA NA aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526) cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371) central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GAAGGCTTTCCGGATACTCCA 0.353 NA C||| 2157 0.430711 0.239 0.4553 5008 , , NA 17598 0.4613 NA 0.5994 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NSCLC(200;764 2208 35157 49871 50830) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M58511 CCDS10302.1 15q25.1 2013-09-20 ENSG00000136381 ENSG00000136381 3658 6115 protein-coding gene gene with protein product 147582 NA 2172968 Standard NM_004136 NM_004136 NA Approved IRP2 uc002bdr.2 P48200 OTTHUMG00000143861 ENST00000258886.8:c.1023+906C>T chr15.hg19:g.78766629C>T NA A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17 hg19 CCDS10302.1 0.02 6.235368 TTCxGGA COVERED NOVEL IREB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000290109.3 0 10.768297 KEEP 0 1 32 47 1573 CC 1 1 0 + 6 60 227 0 0 13.903829 191 60 6666 291 ENST00000258886.8 0.030457 1 MORF4L1 10933 __UNKNOWN__ __UNKNOWN__ 15 79133038 79133038 __UNKNOWN__ Intron SNP C C T rs6495342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:79133038C>T ENST00000379535.4 + 2 679 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 NA NA cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580) chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485) breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 GAATCCTTTGCCTCCCCCATG 0.537 NA T||| 732 0.146166 0.1399 0.2089 5008 , , NA 18883 0.3869 NA 0.0 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100615 CCDS10307.1, CCDS32304.1, CCDS58393.1 15q25.1 2009-07-13 ENSG00000185787 ENSG00000185787 10933 16989 protein-coding gene gene with protein product MORF-related gene on chromosome 15, Esa1p-associated factor 3 homolog (S. cerevisiae) 607303 NA 8619474, 9110174 Standard NM_006791 NM_006791 NA Approved MRG15, MORFRG15, HsT17725, Eaf3, MEAF3 uc002bel.4 Q9UBU8 OTTHUMG00000143865 ENST00000379535.4:c.115+21C>T chr15.hg19:g.79133038C>T NA B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5 hg19 0.02 11.657925 TTGxCTC COVERED NOVEL MORF4L1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417833.1 4 5.706294 KEEP 0 0 0 19 644 CC 0.99986 0.99986 0 + 12 60 407 0 0 23.933712 327 60 11658 382 ENST00000379535.4 0.035398 1 MORF4L1 10933 __UNKNOWN__ __UNKNOWN__ 15 79168729 79168729 __UNKNOWN__ Intron SNP G G C rs76121039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:79168729G>C ENST00000379535.4 + 3 679 MORF4L1_ENST00000331268.5_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000559345.1_Intron Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 NA NA cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580) chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485) breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 CACTGGACTTGGTTTTCCATT 0.323 NA G||| 541 0.108027 0.0 0.1974 5008 , , NA 18146 0.3889 NA 0.0 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF100615 CCDS10307.1, CCDS32304.1, CCDS58393.1 15q25.1 2009-07-13 ENSG00000185787 ENSG00000185787 10933 16989 protein-coding gene gene with protein product MORF-related gene on chromosome 15, Esa1p-associated factor 3 homolog (S. cerevisiae) 607303 NA 8619474, 9110174 Standard NM_006791 NM_006791 NA Approved MRG15, MORFRG15, HsT17725, Eaf3, MEAF3 uc002bel.4 Q9UBU8 OTTHUMG00000143865 ENST00000379535.4:c.116-1826G>C chr15.hg19:g.79168729G>C NA B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5 hg19 0.02 6.552667 CTTxGTT COVERED NOVEL MORF4L1-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417833.1 1 12.334184 KEEP 0 0 0 41 1427 GG 1 1 0 + 8 60 293 0 0 18.62705 187 60 7053 252 ENST00000379535.4 0.041026 1 CTSH 1512 __UNKNOWN__ __UNKNOWN__ 15 79215311 79215311 __UNKNOWN__ Intron SNP A A C rs2289693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:79215311A>C ENST00000220166.5 - 11 1042 NM_004390.3 NP_004381.2 P09668 CATH_HUMAN cathepsin H NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638) acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520) aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324) central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1) 10 CCCCTCCCAGAAGTGGGACCT 0.577 NA C||| 938 0.1873 0.1286 0.2305 5008 , , NA 16394 0.5188 NA 0.008 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 C 497,3895 767.6+/-413.5 26,445,1725 42 44 43 -7.5 0 15 dbSNP_100 43 38,8548 811.6+/-407.1 1,36,4256 no intron CTSH NM_004390.3 27,481,5981 CC,CA,AA 0.4426,11.316,4.1224 79215311 535,12443 2196 4293 6489 SO:0001627 intron_variant X07549 CCDS10308.1 15q25.1 2014-01-28 ENSG00000103811 ENSG00000103811 1512 3.4.22.16 Cathepsins 2535 protein-coding gene gene with protein product 116820 CPSB NA 2849458 Standard NM_004390 NM_004390 NA Approved ACC-4, ACC-5 uc021srk.1 P09668 OTTHUMG00000144171 ENST00000220166.5:c.932+23T>G chr15.hg19:g.79215311A>C NA B2RBK0|Q96NY6|Q9BUM7 hg19 CCDS10308.1 0.02 2.597347 CAGxAGT COVERED NOVEL CTSH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000291370.1 0 5.115941 KEEP 0 0 0 17 550 AA 0.999366 0.978906 0 - 4 60 149 0 0 10.559034 52 60 1787 79 ENST00000220166.5 0.071429 0.979526 RASGRF1 5923 __UNKNOWN__ __UNKNOWN__ 15 79298523 79298523 __UNKNOWN__ Intron SNP G G A rs894780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:79298523G>A ENST00000558480.2 - 14 2341 RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000419573.3_Silent_p.L707L NM_001145648.1 NP_001139120.1 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 NA NA activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGGCACCTCAGCCACCTGGCA 0.607 NA G||| 332 0.0662939 0.0061 0.0605 5008 , , NA 21301 0.0972 NA 0.1163 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 G , 96,4296 75.2+/-113.4 2,92,2102 110 96 100 ,2119 1.3 0.1 15 dbSNP_86 100 885,7701 198.6+/-242.9 71,743,3479 no intron,coding-synonymous RASGRF1 NM_001145648.1,NM_002891.4 , 73,835,5581 AA,AG,GG 10.3075,2.1858,7.5589 , ,707/1274 79298523 981,11997 2196 4293 6489 SO:0001627 intron_variant M91815 CCDS10309.1, CCDS42065.1, CCDS45320.1 15q24 2013-01-10 ENSG00000058335 ENSG00000058335 5923 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 9875 protein-coding gene gene with protein product 606600 GRF1 NA 7684828, 1379731 Standard NM_002891 NM_153815 NA Approved CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187 uc002beq.3 Q13972 OTTHUMG00000144172 ENST00000558480.2:c.2075+4C>T chr15.hg19:g.79298523G>A NA F8VPA5|H0YKF2|J3KQP9|Q16027 hg19 CCDS45320.1 0.02 4.000344 TCAxCCA COVERED NOVEL RASGRF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418828.2 0 6.621718 KEEP 0 0 0 22 783 GG 0.999879 0.999879 0 - 8 60 286 0 0 19.261788 126 60 4802 181 ENST00000558480.2 0.059701 1 RASGRF1 5923 __UNKNOWN__ __UNKNOWN__ 15 79310337 79310337 __UNKNOWN__ Intron SNP A A G rs11855004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:79310337A>G ENST00000558480.2 - 12 1872 RASGRF1_ENST00000419573.3_Intron|RASGRF1_ENST00000560334.1_Intron NM_001145648.1 NP_001139120.1 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 NA NA activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268) cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CGTACGTACCAGTGGAGGCTC 0.443 NA G||| 839 0.167532 0.2443 0.1167 5008 , , NA 21590 0.1696 NA 0.171 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M91815 CCDS10309.1, CCDS42065.1, CCDS45320.1 15q24 2013-01-10 ENSG00000058335 ENSG00000058335 5923 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 9875 protein-coding gene gene with protein product 606600 GRF1 NA 7684828, 1379731 Standard NM_002891 NM_153815 NA Approved CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187 uc002beq.3 Q13972 OTTHUMG00000144172 ENST00000558480.2:c.1607-89T>C chr15.hg19:g.79310337A>G NA F8VPA5|H0YKF2|J3KQP9|Q16027 hg19 CCDS45320.1 0.02 6.259037 ACCxGTG COVERED NOVEL RASGRF1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418828.2 0 4.813908 KEEP 0 0 0 16 495 AA 0.997832 0.997832 0 - 6 60 219 0 0 13.300678 177 60 6594 230 ENST00000558480.2 0.032787 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 79852794 79852794 __UNKNOWN__ IGR SNP C C T rs12907949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:79852794C>T NA NA KIAA1024 (88162 upstream) : RNU6-667P (256896 downstream) NA NA NA TCAATTAGACCGGCATCTTTT 0.517 NA C||| 1644 0.328275 0.2315 0.2507 5008 , , NA 13996 0.6151 NA 0.2763 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.79852794C>T NA hg19 0.02 9.425544 GACxGGC COVERED NOVEL 0 0 9.329775 KEEP 0 0 0 31 1049 CC 0.999997 0.999997 0 8 60 312 0 0 20.294473 200 60 7071 316 0.038462 1 RP11-210M15.2 0 __UNKNOWN__ __UNKNOWN__ 15 80672310 80672310 __UNKNOWN__ Intron SNP A A C rs35187631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:80672310A>C ENST00000559267.1 - 1 64 RP11-210M15.2_ENST00000559008.1_3'UTR NA NA NA CATAAACTTCATTCTCTCCCC 0.403 NA A||| 829 0.165535 0.1142 0.2277 5008 , , NA 21811 0.1548 NA 0.2038 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000559267.1:c.372+17975T>G chr15.hg19:g.80672310A>C NA hg19 0.02 36.656238 TTCxTTC COVERED NOVEL RP11-210M15.2-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000417162.1 7 27.417798 KEEP 0 1 34 103 3263 AA 1 1 0 - 24 60 908 0 0 54.836643 825 60 30600 1146 ENST00000559267.1 0.028269 1 RP11-210M15.2 0 __UNKNOWN__ __UNKNOWN__ 15 80672506 80672506 __UNKNOWN__ Intron SNP T T C rs35375628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:80672506T>C ENST00000559267.1 - 1 64 RP11-210M15.2_ENST00000559008.1_Intron NA NA NA CTGGAATCAGTAAGAGAGAGA 0.388 NA T||| 828 0.165335 0.1142 0.2277 5008 , , NA 22912 0.1548 NA 0.2028 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000559267.1:c.372+17779A>G chr15.hg19:g.80672506T>C NA hg19 0.02 22.472934 CAGxAAG COVERED NOVEL RP11-210M15.2-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000417162.1 4 13.23783 KEEP 0 0 0 44 1371 TT 1 1 0 - 19 60 714 0 0 44.994607 506 60 18089 662 ENST00000559267.1 0.03619 1 RP11-210M15.2 0 __UNKNOWN__ __UNKNOWN__ 15 80690335 80690335 __UNKNOWN__ 5'UTR SNP C C T rs3743408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:80690335C>T ENST00000559267.1 - 0 14 RP11-210M15.2_ENST00000559008.1_Silent_p.S23S NA NA NA GTGTGCAGCGCGAAAGAATGA 0.517 NA C||| 856 0.170927 0.2648 0.17 5008 , , NA 23278 0.1607 NA 0.1501 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000559267.1:c.-422G>A chr15.hg19:g.80690335C>T NA hg19 0.02 4.429626 GCGxGAA COVERED NOVEL RP11-210M15.2-002 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000417162.1 1 5.051179 KEEP 0 1 32 28 971 CC 0.999997 0.999997 0 - 6 60 227 0 0 14.772154 136 60 4838 200 ENST00000559267.1 0.042254 1 ARNT2 9915 __UNKNOWN__ __UNKNOWN__ 15 80886396 80886396 __UNKNOWN__ 3'UTR SNP G G A rs59722602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:80886396G>A ENST00000303329.4 + 0 2676 ARNT2_ENST00000533983.1_3'UTR NM_014862.3 NP_055677.3 Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 NA NA central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TGACCAAGCAGCACCAGCAGG 0.488 NA G||| 640 0.127796 0.0083 0.098 5008 , , NA 20607 0.3254 NA 0.1352 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB002305 CCDS32307.1 15q25.1 2013-05-21 ENSG00000172379 ENSG00000172379 9915 Basic helix-loop-helix proteins 16876 protein-coding gene gene with protein product 606036 NA 11247670 Standard NM_014862 NA Approved KIAA0307, bHLHe1 uc002bfr.3 Q9HBZ2 OTTHUMG00000165478 ENST00000303329.4:c.*357G>A chr15.hg19:g.80886396G>A NA B4DIS7|O15024|Q8IYC2 hg19 CCDS32307.1 0.02 6.48763 GCAxCAC COVERED NOVEL ARNT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384389.2 0 11.437105 KEEP 0 0 0 38 1370 GG 1 1 0 + 7 60 260 0 0 16.310053 184 60 6944 281 ENST00000303329.4 0.036649 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 81426539 81426539 __UNKNOWN__ IGR SNP G G C rs2683255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:81426539G>C NA NA MESDC1 (130197 upstream) : C15orf26 (48 downstream) NA NA NA CAGGGCGAGGGTGCGCGCTGT 0.662 NA C||| 2928 0.584665 0.6293 0.647 5008 , , NA 14460 0.4276 NA 0.7763 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.81426539G>C NA hg19 0.02 2.622376 AGGxTGC COVERED NOVEL 0 1 3.912617 KEEP 0 0 0 13 455 GG 0.994391 0.965375 0 4 60 151 0 0 10.85139 49 60 1754 73 0.075472 0.97082 IL16 3603 __UNKNOWN__ __UNKNOWN__ 15 81599056 81599056 __UNKNOWN__ Intron SNP C C T rs138030250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:81599056C>T ENST00000394660.2 + 18 4162 IL16_ENST00000302987.4_Intron|IL16_ENST00000394652.2_Intron|RP11-761I4.4_ENST00000607019.1_RNA NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 NA NA immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 TACTTTTTCTCCTTTGCTCAG 0.493 NA C||| 36 0.0071885 0.0 0.0 5008 , , NA 17980 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U82972 CCDS10317.1, CCDS42069.1, CCDS53966.1 15q26.3 2011-07-14 2011-07-14 ENSG00000172349 ENSG00000172349 3603 Interleukins and interleukin receptors 5980 protein-coding gene gene with protein product prointerleukin 16, lymphocyte chemoattractant factor 603035 interleukin 16 (lymphocyte chemoattractant factor) NA 9144227 Standard NM_172217 NM_004513 NA Approved LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806 uc021ssh.1 Q14005 OTTHUMG00000144186 ENST00000394660.2:c.3802+170C>T chr15.hg19:g.81599056C>T NA A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18 hg19 CCDS53966.1 0.02 25.268722 TCTxCTT COVERED NOVEL IL16-001 KNOWN basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000291391.4 4 28.593021 KEEP 0 0 0 95 3386 CC 1 1 0 + 23 60 826 0 0 51.174448 580 60 21687 866 ENST00000394660.2 0.038143 1 AP3B2 8120 __UNKNOWN__ __UNKNOWN__ 15 83328607 83328607 __UNKNOWN__ Missense_Mutation SNP C C T rs370224228 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:83328607C>T ENST00000535348.1 - 24 3064 c.2992G>A c.(2992-2994)Gat>Aat p.D998N RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.D1049N|AP3B2_ENST00000261722.3_Missense_Mutation_p.D1030N NM_001278511.1 NP_001265440.1 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 1030 NA anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892) AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) transporter activity (GO:0005215) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CTGTACTCATCAGATGTCCCA 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 C ASN/ASP 0,4096 0,0,2048 97 90 93 3088 2.1 0.1 15 93 1,8369 0,1,4184 no missense AP3B2 NM_004644.3 23 0,1,6232 TT,TC,CC 0.0119,0.0,0.0080 possibly-damaging 1030/1083 83328607 1,12465 2048 4185 6233 SO:0001583 missense U37673 CCDS45331.1, CCDS61736.1, CCDS61737.1 15q 2008-07-07 ENSG00000103723 ENSG00000103723 8120 567 protein-coding gene gene with protein product 602166 NA 7671305, 1851215 Standard NM_004644 NA Approved NAPTB uc010uoh.2 Q13367 OTTHUMG00000168009 ENST00000535348.1:c.2992G>A chr15.hg19:g.83328607C>T ENSP00000438721:p.Asp998Asn NA A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8 hg19 0.02 11.518735 CATxAGA COVERED . . . . . . . . . . C 4.398 0.073596 0.08485 0.0 1.19E-4 ENSG00000103723 ENST00000261722;ENST00000535348;ENST00000535359 T;T;T 0.52754 0.65;0.65;0.65 4.98 2.07 0.26955 . 0.405411 0.26546 N 0.023766 T 0.12902 0.0313 N 0.00621 -1.32 0.37803 D 0.927785 B;B;B 0.22683 0.073;0.0;0.0 B;B;B 0.20184 0.028;0.0;0.0 T 0.09100 -1.0690 10 0.09084 T 0.74 -6.9485 5.8926 0.18921 0.0:0.4774:0.0:0.5226 . 998;1049;1030 B7ZKR7;B7ZKS0;Q13367 .;.;AP3B2_HUMAN N 1030;998;1049 ENSP00000261722:D1030N;ENSP00000438721:D998N;ENSP00000440984:D1049N ENSP00000261722:D1030N D - 1 0 AP3B2 81125662 1.000000 0.71417 0.075000 0.20258 0.694000 0.40290 3.103000 0.50298 0.521000 0.28445 -0.379000 0.06801 GAT NOVEL AP3B2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000397466.1 0 12.033522 KEEP 0 0 0 40 1373 CC 1 1 0 - 9 60 319 0 0 18.262186 322 60 12313 431 ENST00000535348.1 0.02719 1 WHAMM 123720 __UNKNOWN__ __UNKNOWN__ 15 83499665 83499665 __UNKNOWN__ Silent SNP G G A rs3814282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:83499665G>A ENST00000286760.4 + 9 2055 c.1956G>A c.(1954-1956)ccG>ccA p.P652P NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 652 Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|Pro-rich. NA actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127) cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139) Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017) endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 cgccgccaccgccgcccccac 0.572 NA G||| 888 0.177316 0.0923 0.1081 5008 , , NA 9240 0.2044 NA 0.1223 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 G 334,3466 22,290,1588 13 15 15 1956 -8.2 0 15 dbSNP_107 15 1101,7071 88,925,3073 no coding-synonymous WHAMM NM_001080435.1 110,1215,4661 AA,AG,GG 13.4728,8.7895,11.9863 652/810 83499665 1435,10537 1900 4086 5986 SO:0001819 synonymous_variant AK126887 CCDS45333.1 15q25.2 2009-02-18 2009-02-18 2009-02-18 ENSG00000156232 ENSG00000156232 123720 30493 protein-coding gene gene with protein product 612393 WAS protein homology region 2 domain containing 1 WHDC1 NA 11853319, 18226259, 18614018, 18812086 Standard XM_005272422 NA Approved KIAA1971 uc002bje.3 Q8TF30 ENST00000286760.4:c.1956G>A chr15.hg19:g.83499665G>A NA Q8N1J9 hg19 CCDS45333.1 0.02 3.826771 ACCxCCG COVERED NOVEL WHAMM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418463.1 2 9.866964 KEEP 0 0 0 33 1068 GG 0.999998 0.999998 0 + 6 60 195 0 0 11.588462 137 60 4299 210 ENST00000286760.4 0.041958 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 84748914 84748914 __UNKNOWN__ IGR SNP G G C rs17841161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:84748914G>C NA NA ADAMTSL3 (40320 upstream) : EFTUD1P1 (5 downstream) NA NA NA CCGTCGTCAAGGCAACAGAGG 0.647 NA G||| 290 0.0579073 0.0144 0.0058 5008 , , NA 13380 0.1766 NA 0.0239 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.84748914G>C NA hg19 0.02 6.116335 CAAxGCA COVERED NOVEL 0 2 11.136244 KEEP 0 0 0 37 1309 GG 1 1 0 6 60 214 0 0 12.732443 182 60 6603 257 0.031915 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 84859927 84859927 __UNKNOWN__ IGR SNP C C T rs74896934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:84859927C>T NA NA RP11-182J1.16 (8941 upstream) : AC103965.1 (8135 downstream) NA NA NA AGAGTCTCAACAGTGCCAGGT 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.84859927C>T NA hg19 0.02 3.876712 CAAxAGT COVERED NOVEL 0 3 3.91296 KEEP 25 0 0 13 478 CC 0.993072 0.993069 0 11 40 375 0 0 27.362458 96 60 3573 174 0.102804 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 84924696 84924696 __UNKNOWN__ IGR SNP T T C rs2401418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:84924696T>C NA NA GOLGA6L4 (10576 upstream) : RN7SL417P (24073 downstream) NA NA NA CCGATATGGTTTGTGGACTCT 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.84924696T>C NA hg19 0.02 1.863124 GGTxTGT COVERED NOVEL 0 1 4.513747 KEEP 5 0 0 15 481 TT 0.995343 0.995251 0 6 27 221 0 0 15.274932 88 60 3229 139 0.06383 0.999907 UBE2Q2P1 388165 __UNKNOWN__ __UNKNOWN__ 15 85083041 85083041 __UNKNOWN__ RNA SNP T T C rs11073859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:85083041T>C ENST00000339094.1 - 0 1593 NR_003661.2 ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1 NA NA NA AAGCTGCTGTTTACCAGGGTC 0.428 NA .||| 823 0.164337 0.0469 0.1383 5008 , , NA 19392 0.3214 NA 0.2097 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 15q25.2 2013-11-05 2009-12-17 2009-12-17 ENSG00000189136 ENSG00000189136 388165 37439 pseudogene pseudogene ubiquitin-conjugating enzyme E2Q family pseudogene 1 UBE2QP1 NA Standard NR_003661 NR_003661 NA Approved FLJ43276 uc002bkn.1 OTTHUMG00000148662 ENST00000339094.1: chr15.hg19:g.85083041T>C NA hg19 0.02 1.816448 TGTxTAC COVERED NOVEL UBE2Q2P1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000308970.2 2 9.027614 KEEP 0 0 0 30 964 TT 0.999997 0.999765 0 - 4 60 136 0 0 8.457224 84 60 2995 148 ENST00000339094.1 0.045455 0.999768 WDR73 84942 __UNKNOWN__ __UNKNOWN__ 15 85197561 85197561 __UNKNOWN__ 5'UTR SNP G G A rs141201919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:85197561G>A ENST00000434634.2 - 0 5 WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 NA NA cervix(1)|large_intestine(1)|lung(1) 3 GGGGCCGCGCGGCTCTCGCGA 0.662 NA G||| 53 0.0105831 0.0 0.0014 5008 , , NA 15311 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 34 38 37 NA NA 15 NA 85197561 692 1590 2282 SO:0001623 5_prime_UTR_variant AK027200 CCDS45339.1 15q25.2 2013-01-09 ENSG00000177082 84942 WD repeat domain containing 25928 protein-coding gene gene with protein product NA 12477932 Standard NM_032856 NM_032856 NA Approved FLJ14888, HSPC264 uc002bkw.2 Q6P4I2 ENST00000434634.2:c.-56C>T chr15.hg19:g.85197561G>A NA Q96JZ1|Q9P0B7 hg19 CCDS45339.1 0.02 18.732085 CGCxGCT COVERED NOVEL WDR73-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418195.1 1 111.052457 KEEP 0 0 0 369 12771 GG 1 1 0 - 20 60 734 0 0 47.614586 421 60 15506 1014 ENST00000434634.2 0.045351 1 AKAP13 11214 __UNKNOWN__ __UNKNOWN__ 15 86125079 86125079 __UNKNOWN__ Silent SNP C C T rs12439807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:86125079C>T ENST00000361243.2 + 7 3861 c.3780C>T c.(3778-3780)atC>atT p.I1260I AKAP13_ENST00000394518.2_Silent_p.I1260I NM_006738.5 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1260 NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 ATGCTGTCATCGAACAAGTCA 0.572 NA C||| 67 0.0133786 0.0 0.0101 5008 , , NA 20362 0.0556 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Melanoma(94;603 1453 3280 32295 32951) NA 0 C , 1,4403 2.1+/-5.4 0,1,2201 50 47 48 3780,3780 -5.3 0 15 dbSNP_120 48 3,8595 3.0+/-9.4 0,3,4296 no coding-synonymous,coding-synonymous AKAP13 NM_006738.4,NM_007200.3 , 0,4,6497 TT,TC,CC 0.0349,0.0227,0.0308 , 1260/2818,1260/2814 86125079 4,12998 2202 4299 6501 SO:0001819 synonymous_variant M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 11214 A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 371 protein-coding gene gene with protein product 604686 lymphoid blast crisis oncogene LBC NA 9627117, 1860836 Standard NM_007200 NM_007200 NA Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.3780C>T chr15.hg19:g.86125079C>T NA Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 hg19 CCDS32320.1 0.02 6.858806 CATxGAA COVERED NOVEL AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417319.1 3 27.68795 KEEP 0 0 0 92 3106 CC 1 1 0 + 6 60 223 0 0 13.703547 177 60 6111 337 ENST00000361243.2 0.032787 1 AKAP13 11214 __UNKNOWN__ __UNKNOWN__ 15 86241968 86241968 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:86241968A>C ENST00000361243.2 + 17 5557 AKAP13_ENST00000394510.2_Intron|AKAP13_ENST00000560579.1_Intron|AKAP13_ENST00000394518.2_Intron NM_006738.5 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 tgaggtcaggagtttgagacc 0.502 NA NA NA NA NA NA NA NA NA NA Melanoma(94;603 1453 3280 32295 32951) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 11214 A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 371 protein-coding gene gene with protein product 604686 lymphoid blast crisis oncogene LBC NA 9627117, 1860836 Standard NM_007200 NM_007200 NA Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.5476+5286A>C chr15.hg19:g.86241968A>C NA Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 hg19 CCDS32320.1 0.02 -0.087307 AGGxGTT UNCOVERED NOVEL AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417319.1 3 2.708272 KEEP 1 0 0 9 287 AA 0.99254 0.098977 0 + 3 34 111 0 0 9.887218 7 60 236 28 ENST00000361243.2 0.3 0.099721 AKAP13 11214 __UNKNOWN__ __UNKNOWN__ 15 86288518 86288518 __UNKNOWN__ 3'UTR SNP G G C rs1053992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:86288518G>C ENST00000361243.2 + 0 9145 RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_3'UTR|AKAP13_ENST00000394518.2_3'UTR NM_006738.5 NP_006729.4 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CATACCACCCGTGTTTTGCAT 0.498 NA C||| 1808 0.361022 0.1974 0.549 5008 , , NA 20804 0.2679 NA 0.5646 False NA ,,, NA NA NA 2504 0.3354 NA NA NA Melanoma(94;603 1453 3280 32295 32951) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M90360 CCDS32319.1, CCDS32320.1, CCDS73778.1 15q24-q25 2013-01-10 2002-06-13 ENSG00000170776 11214 A-kinase anchor proteins, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 371 protein-coding gene gene with protein product 604686 lymphoid blast crisis oncogene LBC NA 9627117, 1860836 Standard NM_007200 NM_007200 NA Approved Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13 uc002blu.2 Q12802 ENST00000361243.2:c.*610G>C chr15.hg19:g.86288518G>C NA Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6 hg19 CCDS32320.1 0.02 6.563765 CCCxTGT COVERED NOVEL AKAP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000417319.1 2 13.451871 KEEP 0 1 35 57 1918 GG 1 1 0 + 6 60 217 0 0 13.282531 165 60 5685 270 ENST00000361243.2 0.035088 1 DET1 55070 __UNKNOWN__ __UNKNOWN__ 15 89056003 89056003 __UNKNOWN__ 3'UTR SNP A A C rs2289415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89056003A>C ENST00000268148.8 - 0 1977 DET1_ENST00000444300.1_3'UTR|DET1_ENST00000564406.1_3'UTR NM_001144074.1 NP_001137546.1 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) NA NA nucleus (GO:0005634) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) TATTGTATACAATTTAAAAAT 0.418 NA A||| 975 0.194688 0.0613 0.2046 5008 , , NA 19983 0.5198 NA 0.0865 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001242 CCDS45343.1, CCDS45344.1 15q25.3 2004-12-13 ENSG00000140543 55070 25477 protein-coding gene gene with protein product 608727 NA 14739464 Standard NM_017996 NM_001144074 NA Approved FLJ10103 uc002bmq.2 Q7L5Y6 ENST00000268148.8:c.*179T>G chr15.hg19:g.89056003A>C NA B3KNN6|Q2VPC0|Q9NWD5 hg19 CCDS45344.1 0.02 7.030705 TACxATT COVERED NOVEL DET1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415442.2 0 9.327493 KEEP 0 0 0 31 962 AA 0.999997 0.999997 0 - 14 60 507 0 0 35.836991 172 60 6358 236 ENST00000268148.8 0.075269 1 ISG20 3669 __UNKNOWN__ __UNKNOWN__ 15 89182596 89182596 __UNKNOWN__ 5'UTR SNP A A G rs3200942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89182596A>G ENST00000306072.5 + 0 357 ISG20_ENST00000379224.5_5'UTR|ISG20_ENST00000560741.1_5'UTR NM_002201.4 NP_002192.2 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease gene 20kDa NA NA cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337) Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) 3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511) large_intestine(1)|lung(3)|prostate(1) 5 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) TCCCCAAGGAACATGGCTGGG 0.662 NA OREG0023441 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1763 0.352037 0.3442 0.3732 5008 , , NA 14230 0.2034 NA 0.5109 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 A 1566,2834 278,1010,912 21 21 21 -3.7 0.4 15 dbSNP_105 21 4259,4337 1050,2159,1089 no utr-5 ISG20 NM_002201.4 1328,3169,2001 GG,GA,AA 49.5463,35.5909,44.8215 89182596 5825,7171 2200 4298 6498 SO:0001623 5_prime_UTR_variant X89773 CCDS10345.1 15q26 2006-02-22 2002-08-29 ENSG00000172183 ENSG00000172183 3669 6130 protein-coding gene gene with protein product 604533 interferon stimulated gene (20kD) NA 9235947, 9605874 Standard NM_002201 NM_002201 NA Approved HEM45, CD25 uc002bmv.1 Q96AZ6 OTTHUMG00000148679 ENST00000306072.5:c.-2A>G chr15.hg19:g.89182596A>G 1265 O00441|O00586 hg19 CCDS10345.1 0.02 9.179511 GGAxCAT COVERED NOVEL ISG20-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309069.2 18 59.689581 KEEP 0 1 36 211 6557 AA 1 1 0 + 8 60 299 0 0 19.10168 194 60 6819 486 ENST00000306072.5 0.039604 1 ACAN 176 __UNKNOWN__ __UNKNOWN__ 15 89379295 89379295 __UNKNOWN__ Intron SNP G G A rs938610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89379295G>A ENST00000559004.1 + 2 51 ACAN_ENST00000558207.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000439576.2_Intron P16112 PGCA_HUMAN aggrecan NA NA carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACAAACCACGTGCAGCCTCC 0.438 NA G||| 2355 0.470248 0.4856 0.513 5008 , , NA 21645 0.2262 NA 0.66 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M55172 CCDS53970.1, CCDS53971.1 15q26.1 2013-05-07 2007-02-16 2007-02-16 ENSG00000157766 ENSG00000157766 176 Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans 319 protein-coding gene gene with protein product aggrecan proteoglycan 155760 chondroitin sulfate proteoglycan 1, aggrecan 1 MSK16, CSPG1, AGC1 NA 1985970 Standard NM_001135 NM_013227 NA Approved CSPGCP uc010upo.1 P16112 OTTHUMG00000171989 ENST00000559004.1:c.-7-136G>A chr15.hg19:g.89379295G>A NA Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0 hg19 0.02 8.095851 CACxTGC COVERED NOVEL ACAN-008 KNOWN basic protein_coding NA protein_coding OTTHUMT00000418839.1 0 5.45064 KEEP 0 1 34 30 930 GG 0.999997 0.999997 0 + 9 60 314 0 0 18.952833 237 60 7663 288 ENST00000559004.1 0.036585 1 ACAN 176 __UNKNOWN__ __UNKNOWN__ 15 89398553 89398553 __UNKNOWN__ Missense_Mutation SNP C C A rs35430524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89398553C>A ENST00000561243.1 + 11 2737 c.2737C>A c.(2737-2739)Cct>Act p.P913T ACAN_ENST00000559004.1_Missense_Mutation_p.P913T|ACAN_ENST00000352105.7_Missense_Mutation_p.P913T|ACAN_ENST00000439576.2_Missense_Mutation_p.P913T P16112 PGCA_HUMAN aggrecan 912 CS-1. NA carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872) p.P913T(1) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTCAGGCCTGCCTGTGGAAAG 0.587 NA C||| 487 0.0972444 0.0129 0.147 5008 , , NA 19326 0.1944 NA 0.0795 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C THR/PRO,THR/PRO 111,3835 3,105,1865 42 47 45 2737,2737 5.3 1 15 dbSNP_126 45 783,7521 26,731,3395 yes missense,missense ACAN NM_013227.3,NM_001135.3 38,38 29,836,5260 AA,AC,CC 9.4292,2.813,7.298 benign,benign 913/2531,913/2432 89398553 894,11356 1973 4152 6125 SO:0001583 missense M55172 CCDS53970.1, CCDS53971.1 15q26.1 2013-05-07 2007-02-16 2007-02-16 ENSG00000157766 ENSG00000157766 176 Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans 319 protein-coding gene gene with protein product aggrecan proteoglycan 155760 chondroitin sulfate proteoglycan 1, aggrecan 1 MSK16, CSPG1, AGC1 NA 1985970 Standard NM_001135 NM_013227 NA Approved CSPGCP uc010upo.1 P16112 OTTHUMG00000171989 ENST00000561243.1:c.2737C>A chr15.hg19:g.89398553C>A ENSP00000453342:p.Pro913Thr NA Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0 hg19 CCDS53970.1 0.02 9.609756 CTGxCTG COVERED 224 0.10256410256410256 7 0.014227642276422764 39 0.10773480662983426 115 0.20104895104895104 63 0.08311345646437995 C 14.56 2.570930 0.45798 0.02813 0.094292 ENSG00000157766 ENST00000439576;ENST00000352105;ENST00000268134 T;T 0.05447 3.75;3.44 5.33 5.33 0.75918 . . . . . T 0.00012 0.0000 . . . 0.34597 P 0.283867 B;B 0.24963 0.115;0.115 B;B 0.27796 0.083;0.047 T 0.44757 -0.9307 7 0.39692 T 0.17 -10.1741 11.6358 0.51202 0.0:0.9154:0.0:0.0846 rs35430524 913;913 E7ENV9;E7EX88 .;. T 913 ENSP00000387356:P913T;ENSP00000341615:P913T ENSP00000268134:P913T P + 1 0 ACAN 87199557 0.973000 0.33851 0.999000 0.59377 0.963000 0.63663 2.252000 0.43196 2.476000 0.83614 0.655000 0.94253 CCT NOVEL ACAN-006 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416267.2 2 11.690123 KEEP 0 1 11 43 1552 CC 1 1 0 + 9 60 309 0 0 18.163593 255 60 9287 364 ENST00000561243.1 0.034091 1 ACAN 176 __UNKNOWN__ __UNKNOWN__ 15 89400288 89400288 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89400288C>T ENST00000561243.1 + 11 4472 c.4472C>T c.(4471-4473)cCt>cTt p.P1491L ACAN_ENST00000559004.1_Missense_Mutation_p.P1491L|ACAN_ENST00000352105.7_Missense_Mutation_p.P1491L|ACAN_ENST00000439576.2_Missense_Mutation_p.P1491L P16112 PGCA_HUMAN aggrecan 1495 29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1. NA carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578) carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGGGCTTCCTTCTGGAGAG 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 85 85 85 NA NA 15 NA 89400288 1864 4098 5962 SO:0001583 missense M55172 CCDS53970.1, CCDS53971.1 15q26.1 2013-05-07 2007-02-16 2007-02-16 ENSG00000157766 ENSG00000157766 176 Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans 319 protein-coding gene gene with protein product aggrecan proteoglycan 155760 chondroitin sulfate proteoglycan 1, aggrecan 1 MSK16, CSPG1, AGC1 NA 1985970 Standard NM_001135 NM_013227 NA Approved CSPGCP uc010upo.1 P16112 OTTHUMG00000171989 ENST00000561243.1:c.4472C>T chr15.hg19:g.89400288C>T ENSP00000453342:p.Pro1491Leu NA Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0 hg19 CCDS53970.1 0.02 1.845546 TTCxTTC COVERED . . . . . . . . . . C 16.25 3.069080 0.55539 . . ENSG00000157766 ENST00000439576;ENST00000352105;ENST00000268134 D;D 0.96651 -4.08;-4.08 4.76 4.76 0.60689 . . . . . D 0.98264 0.9425 M 0.87038 2.855 0.36695 D 0.879806 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.999 D 0.99962 1.1745 9 0.87932 D 0 -2.079 17.3039 0.87189 0.0:1.0:0.0:0.0 . 1491;1491 E7ENV9;E7EX88 .;. L 1491;1491;1377 ENSP00000387356:P1491L;ENSP00000341615:P1491L ENSP00000268134:P1377L P + 2 0 ACAN 87201292 0.001000 0.12720 0.997000 0.53966 0.410000 0.31052 0.921000 0.28718 2.629000 0.89072 0.563000 0.77884 CCT NOVEL ACAN-006 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416267.2 0 4.213421 KEEP 0 0 0 14 471 CC 0.995343 0.995273 0 + 5 60 182 0 0 12.058049 91 60 3376 124 ENST00000561243.1 0.052083 0.99993 HAPLN3 145864 __UNKNOWN__ __UNKNOWN__ 15 89436295 89436295 __UNKNOWN__ Nonsense_Mutation SNP G G A rs8039131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89436295G>A ENST00000562889.1 - 2 187 c.49C>T c.(49-51)Cag>Tag p.Q17* HAPLN3_ENST00000359595.3_Intron Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 0 NA cell adhesion (GO:0007155) extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) hyaluronic acid binding (GO:0005540) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) Hyaluronan(DB08818) actgcatcctgctgagtgact 0.537 NA G||| 1991 0.397564 0.4758 0.4092 5008 , , NA 20596 0.4216 NA 0.329 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001587 stop_gained AY262759 CCDS10346.1 15q26.1 2013-01-11 ENSG00000140511 ENSG00000140511 145864 Immunoglobulin superfamily / V-set domain containing 21446 protein-coding gene gene with protein product extracellular link domain containing, 1 EXLD1 NA 12663660 Standard NM_178232 NM_178232 NA Approved HsT19883 uc002bnc.3 Q96S86 OTTHUMG00000148680 ENST00000562889.1:c.49C>T chr15.hg19:g.89436295G>A ENSP00000457180:p.Gln17* NA A8K7P0 hg19 0.02 6.123402 CCTxCTG COVERED NOVEL HAPLN3-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000415570.2 4 20.467166 KEEP 0 0 0 68 2458 GG 1 1 0 - 8 60 293 0 0 18.792636 178 60 6933 352 ENST00000562889.1 0.043011 1 ABHD2 11057 __UNKNOWN__ __UNKNOWN__ 15 89739259 89739259 __UNKNOWN__ 3'UTR SNP G G C rs2283435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89739259G>C ENST00000352732.5 + 0 2403 ABHD2_ENST00000355100.3_3'UTR NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 NA NA negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611) integral component of membrane (GO:0016021) carboxylic ester hydrolase activity (GO:0052689) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) TGagagttacgtgaggcactt 0.498 NA G||| 2781 0.555312 0.4607 0.6153 5008 , , NA 18994 0.7927 NA 0.4732 False NA ,,, NA NA NA 2504 0.4806 NA NA NA Colon(11;252 417 24570 33239 41878) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X12433 CCDS10348.1 15q26.1 2006-10-06 ENSG00000140526 ENSG00000140526 11057 Abhydrolase domain containing 18717 protein-coding gene gene with protein product 612196 NA Standard NM_152924 NA Approved LABH2 uc002bnk.2 P08910 OTTHUMG00000148684 ENST00000352732.5:c.*605G>C chr15.hg19:g.89739259G>C NA Q53G48|Q53GU0|Q5FVD9|Q8TC79 hg19 CCDS10348.1 0.02 7.428888 TACxTGA COVERED NOVEL ABHD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309074.2 0 8.125261 KEEP 0 0 0 27 920 GG 0.999988 0.999988 0 + 8 60 298 0 0 20.010546 144 60 5220 218 ENST00000352732.5 0.052632 1 ABHD2 11057 __UNKNOWN__ __UNKNOWN__ 15 89743043 89743043 __UNKNOWN__ 3'UTR SNP C C T rs729707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:89743043C>T ENST00000352732.5 + 0 6187 ABHD2_ENST00000355100.3_3'UTR NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 NA NA negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611) integral component of membrane (GO:0016021) carboxylic ester hydrolase activity (GO:0052689) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) GGAAGTAAACCTCTCACCGCC 0.512 NA C||| 2106 0.420527 0.2655 0.5461 5008 , , NA 18323 0.6438 NA 0.3867 False NA ,,, NA NA NA 2504 0.3456 NA NA NA Colon(11;252 417 24570 33239 41878) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X12433 CCDS10348.1 15q26.1 2006-10-06 ENSG00000140526 ENSG00000140526 11057 Abhydrolase domain containing 18717 protein-coding gene gene with protein product 612196 NA Standard NM_152924 NA Approved LABH2 uc002bnk.2 P08910 OTTHUMG00000148684 ENST00000352732.5:c.*4389C>T chr15.hg19:g.89743043C>T NA Q53G48|Q53GU0|Q5FVD9|Q8TC79 hg19 CCDS10348.1 0.02 4.120298 AACxTCT COVERED NOVEL ABHD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309074.2 0 7.197063 KEEP 0 0 0 24 826 CC 0.999909 0.999901 0 + 5 60 171 0 0 10.701991 103 60 3778 166 ENST00000352732.5 0.046296 0.999992 KIF7 374654 __UNKNOWN__ __UNKNOWN__ 15 90196008 90196008 __UNKNOWN__ Missense_Mutation SNP C C T rs8179065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90196008C>T ENST00000394412.3 - 2 230 c.154G>A c.(154-156)Gac>Aac p.D52N NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 52 Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}. NA D -> N (in dbSNP:rs8179065). ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591) cilium (GO:0005929)|kinesin complex (GO:0005871) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AAGTGTCGGTCACGGCCCAGA 0.672 NA C||| 1214 0.242412 0.0507 0.2651 5008 , , NA 17437 0.4117 NA 0.2614 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 46 53 51 NA NA 15 NA 90196008 689 1590 2279 SO:0001583 missense AY358384 CCDS32325.2 15q26.1 2011-06-02 ENSG00000166813 ENSG00000166813 374654 Kinesins 30497 protein-coding gene gene with protein product 611254 NA 11416179, 15547730 Standard NM_198525 NM_198525 NA Approved JBTS12 uc002bof.2 Q2M1P5 OTTHUMG00000157177 ENST00000394412.3:c.154G>A chr15.hg19:g.90196008C>T ENSP00000377934:p.Asp52Asn NA Q3SXY0|Q6UXE9|Q8IW72 hg19 CCDS32325.2 0.02 3.4332 GGTxACG COVERED 516 0.23626373626373626 30 0.06097560975609756 85 0.23480662983425415 205 0.3583916083916084 196 0.25857519788918204 C 13.49 2.253446 0.39797 . . ENSG00000166813 ENST00000394412 T 0.74947 -0.89 4.66 2.35 0.29111 Kinesin, motor domain (4); . . . . T 0.00012 0.0000 L 0.28344 0.845 0.29058 P 0.884112 B 0.15719 0.014 B 0.16289 0.015 T 0.14643 -1.0465 8 0.62326 D 0.03 . 4.3016 0.10927 0.0:0.4722:0.1771:0.3507 rs8179065 52 Q2M1P5 KIF7_HUMAN N 52 ENSP00000377934:D52N ENSP00000377934:D52N D - 1 0 KIF7 87997012 0.117000 0.22190 0.763000 0.31416 0.798000 0.45092 0.710000 0.25748 0.942000 0.37525 0.655000 0.94253 GAC NOVEL KIF7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000347782.1 1 19.864286 KEEP 0 0 0 66 2311 CC 1 1 0 - 5 60 170 0 0 9.996539 137 60 5129 256 ENST00000394412.3 0.035211 1 ANPEP 290 __UNKNOWN__ __UNKNOWN__ 15 90349558 90349558 __UNKNOWN__ Missense_Mutation SNP C C T rs25653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90349558C>T ENST00000300060.6 - 2 570 c.257G>A c.(256-258)cGg>cAg p.R86Q NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 86 Metalloprotease. NA R -> Q (in dbSNP:rs25653). {ECO:0000269|PubMed:2564851, ECO:0000269|PubMed:2901990, ECO:0000269|Ref.6}. angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032) endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973)|Icatibant(DB06196) CAGCGTCACCCGGTAGGAATC 0.607 NA T||| 2900 0.579073 0.8986 0.3948 5008 , , NA 19374 0.4861 NA 0.5169 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NSCLC(30;827 977 2459 19669 26125) NA 0 T GLN/ARG 3726,674 284.0+/-277.4 1578,570,52 121 97 105 257 -5.4 0 15 dbSNP_72 105 4515,4083 560.3+/-387.6 1189,2137,973 yes missense ANPEP NM_001150.2 43 2767,2707,1025 TT,TC,CC 47.4878,15.3182,36.5979 benign 86/968 90349558 8241,4757 2200 4299 6499 SO:0001583 missense M22324 CCDS10356.1 15q25-q26 2008-07-31 2008-07-31 ENSG00000166825 ENSG00000166825 290 3.4.11.2 CD molecules 500 protein-coding gene gene with protein product aminopeptidase N, aminopeptidase M, microsomal aminopeptidase 151530 CD13, PEPN NA 2428842, 1977688 Standard NM_001150 NA Approved LAP1, gp150, p150 uc002bop.4 P15144 OTTHUMG00000149814 ENST00000300060.6:c.257G>A chr15.hg19:g.90349558C>T ENSP00000300060:p.Arg86Gln NA Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0 hg19 CCDS10356.1 0.02 11.069266 ACCxGGT COVERED 1294 0.5924908424908425 446 0.9065040650406504 162 0.44751381215469616 281 0.49125874125874125 405 0.5343007915567283 T 7.027 0.559778 0.13436 0.846818 0.525122 ENSG00000166825 ENST00000300060 T 0.04234 3.67 4.74 -5.37 0.02681 Peptidase M1, membrane alanine aminopeptidase, N-terminal (1); 1.230460 0.05459 N 0.550827 T 0.00012 0.0000 N 0.10760 0.04 0.80722 P 0.0 B 0.02656 0.0 B 0.09377 0.004 T 0.14035 -1.0487 9 0.33141 T 0.24 . 7.5308 0.27681 0.0:0.4116:0.1755:0.4129 rs25653;rs59164325;rs25653 86 P15144 AMPN_HUMAN Q 86 ENSP00000300060:R86Q ENSP00000300060:R86Q R - 2 0 ANPEP 88150562 0.000000 0.05858 0.006000 0.13384 0.261000 0.26267 -0.405000 0.07196 -0.826000 0.04284 -0.516000 0.04426 CGG NOVEL ANPEP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313425.1 2 4.615367 KEEP 0 3 87 46 1560 CC 1 1 0 - 10 60 368 0 0 22.648998 283 60 9875 407 ENST00000300060.6 0.03413 1 C15orf38-AP3S2 100526783 __UNKNOWN__ __UNKNOWN__ 15 90447230 90447230 __UNKNOWN__ Intron SNP C C T rs77463044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90447230C>T ENST00000398333.3 - 4 348 C15orf38_ENST00000460685.1_Intron|C15orf38_ENST00000357484.5_Intron NM_001199058.1 NP_001185987.1 C15orf38-AP3S2 readthrough NA NA NA AGGCACAGAGCGCAGGAGGGT 0.627 NA C||| 94 0.01877 0.0 0.0 5008 , , NA 18931 0.0903 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 33 34 34 NA NA 15 NA 90447230 2081 4209 6290 SO:0001627 intron_variant CCDS55977.1 15q26.1 2011-02-21 ENSG00000250021 ENSG00000250021 100526783 38824 other readthrough NA Standard NM_001199058.1 NM_001199058 NA Approved uc002bos.4 OTTHUMG00000162161 ENST00000398333.3:c.302-15G>A chr15.hg19:g.90447230C>T NA hg19 CCDS55977.1 0.02 2.114522 GAGxGCA COVERED NOVEL C15orf38-AP3S2-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000367641.1 0 3.610529 KEEP 0 0 0 12 372 CC 0.993634 0.992508 0 - 5 60 186 0 0 12.959004 72 60 2260 93 ENST00000398333.3 0.064935 0.998867 RP11-697E2.6 0 __UNKNOWN__ __UNKNOWN__ 15 90796558 90796558 __UNKNOWN__ Missense_Mutation SNP G G A rs12912620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90796558G>A ENST00000561573.1 + 4 640 c.376G>A c.(376-378)Gct>Act p.A126T TTLL13_ENST00000339615.5_Missense_Mutation_p.A126T|TTLL13_ENST00000438251.1_Missense_Mutation_p.A126T NA NA NA GACAGACTGCGCTGTCTCACT 0.567 NA G||| 1983 0.395966 0.1838 0.4265 5008 , , NA 19364 0.6885 NA 0.2654 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 G THR/ALA 844,3554 333.1+/-302.8 78,688,1433 150 98 116 376 3.1 1 15 dbSNP_121 116 2244,6352 375.5+/-337.8 277,1690,2331 yes missense TTLL13 NM_001029964.2 58 355,2378,3764 AA,AG,GG 26.1052,19.1905,23.7648 benign 126/460 90796558 3088,9906 2199 4298 6497 SO:0001583 missense NA NA NA NA ENST00000561573.1:c.376G>A chr15.hg19:g.90796558G>A ENSP00000456615:p.Ala126Thr NA hg19 0.02 8.958916 TGCxCTG COVERED 791 0.36217948717948717 90 0.18292682926829268 137 0.3784530386740331 365 0.6381118881118881 199 0.262532981530343 G 14.71 2.616673 0.46736 0.191905 0.261052 ENSG00000213471 ENST00000438251;ENST00000339615 T;T 0.03772 3.82;3.81 5.41 3.08 0.35506 . 0.079729 0.53938 D 0.000052 T 0.00012 0.0000 L 0.34521 1.04 0.42541 P 0.0069270000000000165 B 0.22800 0.075 B 0.19148 0.024 T 0.10474 -1.0628 9 0.17832 T 0.49 . 8.1054 0.30883 0.1239:0.0:0.2625:0.6136 rs12912620;rs58063391;rs12912620 126 A6NNM8-2 . T 126 ENSP00000413362:A126T;ENSP00000345294:A126T ENSP00000345294:A126T A + 1 0 TTLL13 88597562 1.000000 0.71417 0.998000 0.56505 0.768000 0.43524 2.384000 0.44362 0.352000 0.24053 -1.527000 0.00925 GCT NOVEL RP11-697E2.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000435855.1 0 16.553048 KEEP 0 0 0 55 1910 GG 1 1 0 + 20 60 731 0 0 52.412156 230 60 7899 390 ENST00000561573.1 0.08 1 RP11-697E2.6 0 __UNKNOWN__ __UNKNOWN__ 15 90796704 90796704 __UNKNOWN__ Intron SNP C C T rs12914094 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90796704C>T ENST00000561573.1 + 4 681 TTLL13_ENST00000339615.5_Intron|TTLL13_ENST00000438251.1_Intron NA NA NA GTGGCTGTCCCCTTGTGCAGA 0.532 NA C||| 1988 0.396965 0.1838 0.4265 5008 , , NA 19953 0.6915 NA 0.2654 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000561573.1:c.417+105C>T chr15.hg19:g.90796704C>T NA hg19 0.02 4.462166 TCCxCTT COVERED NOVEL RP11-697E2.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000435855.1 0 4.249477 KEEP 0 1 34 26 913 CC 0.999988 0.999987 0 + 7 60 257 0 0 17.281703 120 60 4304 172 ENST00000561573.1 0.055118 1 RP11-697E2.6 0 __UNKNOWN__ __UNKNOWN__ 15 90798953 90798953 __UNKNOWN__ Intron SNP C C T rs2063739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90798953C>T ENST00000561573.1 + 5 681 TTLL13_ENST00000339615.5_Intron|TTLL13_ENST00000438251.1_Intron NA NA NA ATGCCACTTACTCTGGGGGCT 0.527 NA C||| 1888 0.376997 0.1097 0.4164 5008 , , NA 21168 0.6925 NA 0.2634 False NA ,,, NA NA NA 2504 0.502 NA NA NA NA 0 C 647,3751 277.8+/-273.9 51,545,1603 108 108 108 0.2 0 15 dbSNP_94 108 2235,6361 378.6+/-339.0 274,1687,2337 no intron TTLL13 NM_001029964.2 325,2232,3940 TT,TC,CC 26.0005,14.7112,22.1795 90798953 2882,10112 2199 4298 6497 SO:0001627 intron_variant NA NA NA NA ENST00000561573.1:c.418-1417C>T chr15.hg19:g.90798953C>T NA hg19 0.02 7.861831 TTAxTCT COVERED NOVEL RP11-697E2.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000435855.1 0 21.201965 KEEP 0 1 30 81 2873 CC 1 1 0 + 8 60 286 0 0 17.405041 218 60 8196 386 ENST00000561573.1 0.035398 1 RP11-697E2.6 0 __UNKNOWN__ __UNKNOWN__ 15 90800408 90800408 __UNKNOWN__ Silent SNP C C G rs2063742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90800408C>G ENST00000561573.1 + 5 720 c.456C>G c.(454-456)gtC>gtG p.V152V TTLL13_ENST00000339615.5_Silent_p.V248V|TTLL13_ENST00000438251.1_Silent_p.V248V NA NA NA ATATGCGAGTCTACGTCCTGA 0.502 NA C||| 1894 0.378195 0.112 0.4179 5008 , , NA 19477 0.6925 NA 0.2644 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 C 661,3737 281.9+/-276.2 55,551,1593 110 97 101 744 4 1 15 dbSNP_94 101 2239,6357 378.9+/-339.1 275,1689,2334 no coding-synonymous TTLL13 NM_001029964.2 330,2240,3927 GG,GC,CC 26.047,15.0296,22.318 248/460 90800408 2900,10094 2199 4298 6497 SO:0001819 synonymous_variant NA NA NA NA ENST00000561573.1:c.456C>G chr15.hg19:g.90800408C>G NA hg19 0.02 13.381083 AGTxTAC COVERED NOVEL RP11-697E2.6-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000435855.1 1 13.781259 KEEP 0 1 35 58 2088 CC 1 1 0 + 10 60 370 0 0 22.566953 302 60 11398 452 ENST00000561573.1 0.032051 1 RP11-697E2.7 0 __UNKNOWN__ __UNKNOWN__ 15 90818827 90818827 __UNKNOWN__ RNA SNP G G A rs4595780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:90818827G>A ENST00000411845.2 + 0 562 NA NA NA AACTGGGCCTGCGGCTTTGGG 0.542 NA A||| 2270 0.453275 0.379 0.4496 5008 , , NA 18659 0.6895 NA 0.2664 False NA ,,, NA NA NA 2504 0.5051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000411845.2: chr15.hg19:g.90818827G>A NA hg19 0.02 13.925527 CCTxCGG COVERED 907 0.4152930402930403 190 0.3861788617886179 147 0.40607734806629836 371 0.6486013986013986 199 0.262532981530343 A 3.328 -0.137234 0.06711 . . ENSG00000228998 ENST00000411845 . . . 1.63 -0.827 0.10802 . 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 . . . . . . . . . . . . T 0.41106 -0.9527 5 0.02654 T 1 . 6.6641 0.23031 0.5049:0.0:0.4951:0.0 rs4595780;rs59449937;rs4595780 . . . Y 156 . ENSP00000441910:C156Y C + 2 0 AC091167.2 88619831 1.000000 0.71417 0.010000 0.14722 0.002000 0.02628 3.943000 0.56621 -0.569000 0.06030 -1.007000 0.02485 TGC NOVEL RP11-697E2.7-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000435856.1 3 18.027747 KEEP 0 2 60 81 2880 GG 1 1 0 + 19 60 627 0 0 39.405419 345 60 12866 531 ENST00000411845.2 0.052198 1 MAN2A2 4122 __UNKNOWN__ __UNKNOWN__ 15 91454424 91454424 __UNKNOWN__ Silent SNP C C T rs12442020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:91454424C>T ENST00000559717.1 + 13 2358 c.1899C>T c.(1897-1899)gaC>gaT p.D633D MAN2A2_ENST00000360468.3_Silent_p.D633D|MAN2A2_ENST00000431652.2_Silent_p.D141D P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 633 NA cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TAAGTCACGACGCCCTCCCAG 0.612 NA C||| 142 0.0283546 0.0023 0.0922 5008 , , NA 20271 0.0714 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C 19,4377 25.3+/-52.1 0,19,2179 85 64 71 1899 -9.8 0.4 15 dbSNP_120 71 8,8588 7.1+/-27.0 0,8,4290 no coding-synonymous MAN2A2 NM_006122.2 0,27,6469 TT,TC,CC 0.0931,0.4322,0.2078 633/1151 91454424 27,12965 2198 4298 6496 SO:0001819 synonymous_variant L28821 CCDS32332.1 15q25 2011-06-30 ENSG00000196547 ENSG00000196547 4122 6825 protein-coding gene gene with protein product 600988 NA 8524845 Standard NM_006122 NM_006122 NA Approved MANA2X, HsT19662 uc002bqc.3 P49641 ENST00000559717.1:c.1899C>T chr15.hg19:g.91454424C>T NA A6NH12|A8K1E8|Q13754 hg19 CCDS32332.1 0.02 14.634763 CGAxGCC COVERED NOVEL MAN2A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418246.5 4 33.98643 KEEP 0 0 0 113 3929 CC 1 1 0 + 13 60 471 0 0 28.464521 384 60 13424 646 ENST00000559717.1 0.032746 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 15 92293742 92293742 __UNKNOWN__ IGR SNP G G A rs111208033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:92293742G>A NA NA RP11-692C24.2 (101398 upstream) : snoU13 (84866 downstream) NA NA NA tggagacaatggcagtagagg 0.537 NA -||| 1666 0.332668 0.3654 0.2824 5008 , , NA 21362 0.5506 NA 0.1431 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr15.hg19:g.92293742G>A NA hg19 0.02 1.789608 AATxGCA COVERED NOVEL 0 3 6.320461 KEEP 0 0 0 21 744 GG 0.999869 0.999731 0 5 60 178 0 0 11.77815 86 60 3265 139 0.054945 0.999862 SLCO3A1 28232 __UNKNOWN__ __UNKNOWN__ 15 92694207 92694207 __UNKNOWN__ Silent SNP C C T rs2302085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:92694207C>T ENST00000424469.2 + 9 1769 c.1716C>T c.(1714-1716)taC>taT p.Y572Y RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000318445.6_Silent_p.Y572Y NM_001145044.1 NP_001138516.1 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 572 NA sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563) TCAAGTCTTACGCTTTGGGAG 0.383 NA C||| 403 0.0804712 0.0166 0.0605 5008 , , NA 15957 0.2857 NA 0.0 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 C , 95,4301 76.8+/-115.0 1,93,2104 239 221 227 1716,1716 -1.5 1 15 dbSNP_100 227 10,8586 7.1+/-27.0 0,10,4288 no coding-synonymous,coding-synonymous SLCO3A1 NM_001145044.1,NM_013272.3 , 1,103,6392 TT,TC,CC 0.1163,2.1611,0.8082 , 572/693,572/711 92694207 105,12887 2198 4298 6496 SO:0001819 synonymous_variant AB031050 CCDS10371.1, CCDS45354.1 15q26 2013-05-22 2003-11-25 2003-11-26 ENSG00000176463 ENSG00000176463 28232 Solute carriers 10952 protein-coding gene gene with protein product 612435 solute carrier family 21 (organic anion transporter), member 11 SLC21A11 NA Standard NM_013272 NM_001145044 NA Approved OATP-D, OATP3A1 uc002bqx.2 Q9UIG8 OTTHUMG00000149846 ENST00000424469.2:c.1716C>T chr15.hg19:g.92694207C>T NA A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2 hg19 CCDS45354.1 0.02 7.992364 TTAxGCT COVERED NOVEL SLCO3A1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000414816.1 2 14.12958 KEEP 0 0 0 47 1584 CC 1 1 0 + 10 60 356 0 0 22.433576 225 60 7876 356 ENST00000424469.2 0.042553 1 SLCO3A1 28232 __UNKNOWN__ __UNKNOWN__ 15 92708528 92708528 __UNKNOWN__ Intron SNP G G A rs1060205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:92708528G>A ENST00000424469.2 + 10 2049 RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000318445.6_3'UTR NM_001145044.1 NP_001138516.1 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 NA NA sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563) ACTACTAAAGGGGAGATGGTT 0.388 NA G||| 791 0.157947 0.1785 0.0994 5008 , , NA 18765 0.2728 NA 0.0616 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB031050 CCDS10371.1, CCDS45354.1 15q26 2013-05-22 2003-11-25 2003-11-26 ENSG00000176463 ENSG00000176463 28232 Solute carriers 10952 protein-coding gene gene with protein product 612435 solute carrier family 21 (organic anion transporter), member 11 SLC21A11 NA Standard NM_013272 NM_001145044 NA Approved OATP-D, OATP3A1 uc002bqx.2 Q9UIG8 OTTHUMG00000149846 ENST00000424469.2:c.1996+2300G>A chr15.hg19:g.92708528G>A NA A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2 hg19 CCDS45354.1 0.02 6.525622 AAGxGGA COVERED NOVEL SLCO3A1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000414816.1 1 3.61171 KEEP 0 0 0 12 416 GG 0.993634 0.993634 0 + 13 60 470 0 0 33.483803 151 60 5370 196 ENST00000424469.2 0.079268 1 SLCO3A1 28232 __UNKNOWN__ __UNKNOWN__ 15 92715167 92715167 __UNKNOWN__ 3'UTR SNP C C T rs2270060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:92715167C>T ENST00000424469.2 + 0 2207 RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA NM_001145044.1 NP_001138516.1 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 NA NA sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563) TCACTTAGCGCGCTCCTCCCT 0.612 NA C||| 2127 0.42472 0.5136 0.4856 5008 , , NA 16516 0.4147 NA 0.3569 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB031050 CCDS10371.1, CCDS45354.1 15q26 2013-05-22 2003-11-25 2003-11-26 ENSG00000176463 ENSG00000176463 28232 Solute carriers 10952 protein-coding gene gene with protein product 612435 solute carrier family 21 (organic anion transporter), member 11 SLC21A11 NA Standard NM_013272 NM_001145044 NA Approved OATP-D, OATP3A1 uc002bqx.2 Q9UIG8 OTTHUMG00000149846 ENST00000424469.2:c.*75C>T chr15.hg19:g.92715167C>T NA A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2 hg19 CCDS45354.1 0.02 12.349547 GCGxGCT COVERED NOVEL SLCO3A1-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000414816.1 1 7.515972 KEEP 0 0 0 25 820 CC 0.999931 0.999931 0 + 9 60 323 0 0 18.834842 308 60 10321 392 ENST00000424469.2 0.028391 1 ST8SIA2 8128 __UNKNOWN__ __UNKNOWN__ 15 93011135 93011135 __UNKNOWN__ 3'UTR SNP A A G rs17600420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:93011135A>G ENST00000268164.3 + 0 4885 NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 NA NA axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037) alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691) endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CACTCACCCCATCTGCTCCCA 0.567 NA A||| 1506 0.300719 0.0991 0.366 5008 , , NA 15515 0.4335 NA 0.331 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U33551 CCDS10372.1 15q26 2013-03-01 2003-01-14 2005-02-07 ENSG00000140557 ENSG00000140557 8128 Sialyltransferases 10870 protein-coding gene gene with protein product 602546 sialyltransferase 8 (alpha-2, 8-sialytransferase) B SIAT8B NA 7559389 Standard NM_006011 NM_006011 NA Approved STX, ST8SIA-II, HsT19690 uc002bra.3 Q92186 OTTHUMG00000149843 ENST00000268164.3:c.*3520A>G chr15.hg19:g.93011135A>G NA Q4VAZ0|Q92470|Q92746 hg19 CCDS10372.1 0.02 10.378154 CCCxTCT COVERED NOVEL ST8SIA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313526.1 4 8.120719 KEEP 0 0 0 27 781 AA 0.999988 0.999988 0 + 8 60 285 0 0 16.840628 250 60 8944 305 ENST00000268164.3 0.031008 1 C15orf32 145858 __UNKNOWN__ __UNKNOWN__ 15 93016128 93016128 __UNKNOWN__ Intron SNP C C T rs13380006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:93016128C>T ENST00000333334.2 + 2 869 C15orf32_ENST00000556865.1_Intron NM_153040.2 NP_694585.1 Q32M92 CO032_HUMAN chromosome 15 open reading frame 32 NA NA endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 12 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) CACTGCACTGCTGTTTCTGTG 0.537 NA G||| 2096 0.41853 0.4516 0.4107 5008 , , NA 21579 0.4752 NA 0.336 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10373.1, CCDS73784.1 15q26.1 2014-09-10 ENSG00000183643 ENSG00000183643 145858 26549 protein-coding gene gene with protein product NA Standard NM_153040 NM_153040 NA Approved FLJ32831 uc002brc.1 Q32M92 OTTHUMG00000149844 ENST00000333334.2:c.375-55C>T chr15.hg19:g.93016128C>T NA C5HTZ8|Q96M45 hg19 CCDS10373.1 0.02 1.528861 CTGxTGT COVERED NOVEL C15orf32-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000313527.2 2 3.912453 KEEP 0 0 0 13 454 CC 0.994391 0.994339 0 + 4 60 142 0 0 8.854179 94 60 3497 120 ENST00000333334.2 0.040816 0.999948 FAM174B 400451 __UNKNOWN__ __UNKNOWN__ 15 93161838 93161838 __UNKNOWN__ 3'UTR SNP G G C rs496942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:93161838G>C ENST00000327355.5 - 0 1626 FAM174B_ENST00000553393.1_Intron|RP11-386M24.9_ENST00000607766.1_RNA NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B NA NA integral component of membrane (GO:0016021) endometrium(2)|lung(1) 3 AAACAACGTAGAACTGTGACA 0.383 NA g||| 1011 0.201877 0.2352 0.1268 5008 , , NA 18644 0.3075 NA 0.1153 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45355.1 15q26.1 2012-10-03 ENSG00000185442 ENSG00000185442 400451 34339 protein-coding gene gene with protein product NA Standard NM_207446 NM_207446 NA Approved LOC400451, MGC102891 uc010boe.3 Q3ZCQ3 OTTHUMG00000171744 ENST00000327355.5:c.*848C>G chr15.hg19:g.93161838G>C NA Q3ZCR9|Q8NBH7 hg19 CCDS45355.1 0.02 9.743033 GTAxAAC COVERED NOVEL FAM174B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000414931.1 3 34.611575 KEEP 0 0 0 115 4056 GG 1 1 0 - 8 60 311 0 0 20.229613 198 60 7506 402 ENST00000327355.5 0.038835 1 RGMA 56963 __UNKNOWN__ __UNKNOWN__ 15 93588264 93588264 __UNKNOWN__ Silent SNP G G C rs4299103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:93588264G>C ENST00000556658.1 - 5 1810 c.990C>G c.(988-990)ctC>ctG p.L330L RGMA_ENST00000557301.1_Silent_p.L447L|RGMA_ENST00000538818.1_Silent_p.L330L|RGMA_ENST00000542321.2_Silent_p.L423L|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Silent_p.L423L|RGMA_ENST00000329082.7_Silent_p.L439L|RGMA_ENST00000425933.2_Silent_p.L423L Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 0 NA axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) coreceptor activity (GO:0015026) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GGAGCGGGACGAGGGCGCCCA 0.692 NA G||| 2379 0.47504 0.3313 0.4856 5008 , , NA 13715 0.7073 NA 0.4215 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 G ,,,,, 1354,2486 258,838,824 14 15 15 1341,1269,1269,1269,1269,1317 -2 0 15 dbSNP_111 15 3538,4650 771,1996,1327 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous RGMA NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2 ,,,,, 1029,2834,2151 CC,CG,GG 43.2096,35.2604,40.6718 ,,,,, 447/459,423/435,423/435,423/435,423/435,439/451 93588264 4892,7136 1920 4094 6014 SO:0001819 synonymous_variant AL390083 CCDS45357.1, CCDS53973.1, CCDS53974.1 15q26.1 2013-11-06 2013-11-06 ENSG00000182175 56963 30308 protein-coding gene gene with protein product 607362 RGM domain family, member A NA 15975920 Standard NM_020211 NM_020211 NA Approved RGM, RGMa uc010urc.2 Q96B86 ENST00000556658.1:c.990C>G chr15.hg19:g.93588264G>C NA B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3 hg19 0.02 6.721898 GACxAGG COVERED NOVEL RGMA-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000415097.2 3 8.461778 KEEP 0 1 34 40 1327 GG 1 1 0 - 8 60 281 0 0 18.314242 144 60 4764 219 ENST00000556658.1 0.052632 1 CTD-3049M7.1 0 __UNKNOWN__ __UNKNOWN__ 15 94304167 94304167 __UNKNOWN__ lincRNA SNP C C T rs116964946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:94304167C>T ENST00000557481.2 - 0 729 NA NA NA GAACATAACACCAGGTTCCAA 0.388 NA C||| 55 0.0109824 0.0 0.0 5008 , , NA 21194 0.0536 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000557481.2: chr15.hg19:g.94304167C>T NA hg19 0.02 10.434311 ACAxCAG COVERED NOVEL CTD-3049M7.1-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000415163.2 0 9.93186 KEEP 0 0 0 33 1151 CC 0.999998 0.999998 0 - 10 60 373 0 0 23.654793 251 60 9308 341 ENST00000557481.2 0.038314 1 MCTP2 55784 __UNKNOWN__ __UNKNOWN__ 15 94841420 94841420 __UNKNOWN__ Intron SNP T T C rs75426544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:94841420T>C ENST00000543482.1 + 2 127 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 NA NA calcium-mediated signaling (GO:0019722) integral component of membrane (GO:0016021)|membrane (GO:0016020) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) tgtttttttctgttttATAGG 0.368 NA T||| 873 0.174321 0.0688 0.2147 5008 , , NA 16526 0.2589 NA 0.1402 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002037 CCDS32338.1, CCDS53975.1, CCDS53976.1 15q26.2 2006-02-08 ENSG00000140563 55784 25636 protein-coding gene gene with protein product NA 15528213 Standard NM_018349 NM_018349 NA Approved FLJ11175, FLJ33303 uc002btj.3 Q6DN12 ENST00000543482.1:c.-65-10T>C chr15.hg19:g.94841420T>C NA A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7 hg19 0.02 10.335082 TTCxGTT COVERED NOVEL MCTP2-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000414951.4 1 13.238232 KEEP 0 0 0 44 1362 TT 1 1 0 + 10 60 322 0 0 18.485936 275 60 9510 403 ENST00000543482.1 0.035088 1 MCTP2 55784 __UNKNOWN__ __UNKNOWN__ 15 94885308 94885308 __UNKNOWN__ Intron SNP C C T rs4633664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:94885308C>T ENST00000357742.4 + 6 969 MCTP2_ENST00000543482.1_Intron|MCTP2_ENST00000331706.4_Intron|MCTP2_ENST00000451018.3_Intron NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 NA NA calcium-mediated signaling (GO:0019722) integral component of membrane (GO:0016021)|membrane (GO:0016020) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTATTTGTCACGTGGTTGACA 0.413 NA C||| 990 0.197684 0.0348 0.2867 5008 , , NA 15219 0.2966 NA 0.2187 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK002037 CCDS32338.1, CCDS53975.1, CCDS53976.1 15q26.2 2006-02-08 ENSG00000140563 55784 25636 protein-coding gene gene with protein product NA 15528213 Standard NM_018349 NM_018349 NA Approved FLJ11175, FLJ33303 uc002btj.3 Q6DN12 ENST00000357742.4:c.969+1155C>T chr15.hg19:g.94885308C>T NA A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7 hg19 CCDS32338.1 0.02 6.796108 TCAxGTG COVERED NOVEL MCTP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415060.3 3 10.232231 KEEP 0 0 0 34 1169 CC 0.999998 0.999998 0 + 10 60 365 0 0 25.149556 146 60 5189 223 ENST00000357742.4 0.064103 1 MCTP2 55784 __UNKNOWN__ __UNKNOWN__ 15 94888299 94888299 __UNKNOWN__ Intron SNP T T C rs17712773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:94888299T>C ENST00000357742.4 + 7 969 MCTP2_ENST00000543482.1_Intron|MCTP2_ENST00000331706.4_Intron|MCTP2_ENST00000451018.3_Intron NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 NA NA calcium-mediated signaling (GO:0019722) integral component of membrane (GO:0016021)|membrane (GO:0016020) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TTGATAATGATTCTATCTTCC 0.348 NA T||| 62 0.0123802 0.0008 0.0331 5008 , , NA 20256 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T , 1,1371 0,1,685 160 135 143 , -1.8 0 15 dbSNP_123 143 1,3175 0,1,1587 no intron,intron MCTP2 NM_001159643.1,NM_018349.3 , 0,2,2272 CC,CT,TT 0.0315,0.0729,0.044 , , 94888299 2,4546 686 1588 2274 SO:0001627 intron_variant AK002037 CCDS32338.1, CCDS53975.1, CCDS53976.1 15q26.2 2006-02-08 ENSG00000140563 55784 25636 protein-coding gene gene with protein product NA 15528213 Standard NM_018349 NM_018349 NA Approved FLJ11175, FLJ33303 uc002btj.3 Q6DN12 ENST00000357742.4:c.970-59T>C chr15.hg19:g.94888299T>C NA A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7 hg19 CCDS32338.1 0.02 2.298305 TGAxTCT COVERED NOVEL MCTP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415060.3 1 5.715181 KEEP 0 0 0 19 561 TT 0.99986 0.999695 0 + 5 60 197 0 0 13.702674 85 60 3080 126 ENST00000357742.4 0.055556 0.999835 MCTP2 55784 __UNKNOWN__ __UNKNOWN__ 15 94899354 94899354 __UNKNOWN__ Intron SNP T T G rs2164019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:94899354T>G ENST00000357742.4 + 8 1005 MCTP2_ENST00000543482.1_Intron|MCTP2_ENST00000331706.4_Intron|MCTP2_ENST00000451018.3_Intron|MCTP2_ENST00000557742.1_5'UTR NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 NA NA calcium-mediated signaling (GO:0019722) integral component of membrane (GO:0016021)|membrane (GO:0016020) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCATCTTTATTTTTTGCTTTA 0.353 NA T||| 1048 0.209265 0.0938 0.3112 5008 , , NA 17118 0.3026 NA 0.2356 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 T ,, 485,3909 228.8+/-243.5 25,435,1737 111 112 112 ,, 0.7 0 15 dbSNP_96 112 1858,6738 329.8+/-318.9 214,1430,2654 no intron,utr-5,intron MCTP2 NM_001159643.1,NM_001159644.1,NM_018349.3 ,, 239,1865,4391 GG,GT,TT 21.6147,11.0378,18.037 ,, ,, 94899354 2343,10647 2197 4298 6495 SO:0001627 intron_variant AK002037 CCDS32338.1, CCDS53975.1, CCDS53976.1 15q26.2 2006-02-08 ENSG00000140563 55784 25636 protein-coding gene gene with protein product NA 15528213 Standard NM_018349 NM_018349 NA Approved FLJ11175, FLJ33303 uc002btj.3 Q6DN12 ENST00000357742.4:c.1006-12T>G chr15.hg19:g.94899354T>G NA A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7 hg19 CCDS32338.1 0.02 13.836017 TATxTTT COVERED NOVEL MCTP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415060.3 4 19.127006 KEEP 0 2 76 90 2788 TT 1 1 0 + 20 60 759 0 0 53.014603 298 60 10769 529 ENST00000357742.4 0.062893 1 MCTP2 55784 __UNKNOWN__ __UNKNOWN__ 15 94899551 94899551 __UNKNOWN__ Intron SNP A A G rs3784659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:94899551A>G ENST00000357742.4 + 8 1170 MCTP2_ENST00000543482.1_Intron|MCTP2_ENST00000331706.4_Intron|MCTP2_ENST00000451018.3_Intron|MCTP2_ENST00000557742.1_Intron NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 NA NA calcium-mediated signaling (GO:0019722) integral component of membrane (GO:0016021)|membrane (GO:0016020) calcium ion binding (GO:0005509) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) TCTTTTCCATAAGGAGAACAG 0.323 NA A||| 1041 0.207867 0.093 0.304 5008 , , NA 15098 0.3016 NA 0.2356 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 A ,, 482,3908 209.8+/-230.5 26,430,1739 48 50 49 ,, -5.1 0 15 dbSNP_107 49 1838,6756 309.7+/-309.5 214,1410,2673 no intron,intron,intron MCTP2 NM_001159643.1,NM_001159644.1,NM_018349.3 ,, 240,1840,4412 GG,GA,AA 21.387,10.9795,17.8681 ,, ,, 94899551 2320,10664 2195 4297 6492 SO:0001627 intron_variant AK002037 CCDS32338.1, CCDS53975.1, CCDS53976.1 15q26.2 2006-02-08 ENSG00000140563 55784 25636 protein-coding gene gene with protein product NA 15528213 Standard NM_018349 NM_018349 NA Approved FLJ11175, FLJ33303 uc002btj.3 Q6DN12 ENST00000357742.4:c.1170+21A>G chr15.hg19:g.94899551A>G NA A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7 hg19 CCDS32338.1 0.02 5.088915 CATxAGG COVERED NOVEL MCTP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415060.3 0 2.707556 KEEP 0 0 0 9 266 AA 0.99254 0.992509 0 + 8 60 310 0 0 22.677201 93 60 3277 115 ENST00000357742.4 0.079208 0.999968 NR2F2 7026 __UNKNOWN__ __UNKNOWN__ 15 96876611 96876611 __UNKNOWN__ Intron SNP T T A rs7173047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:96876611T>A ENST00000394166.3 + 2 1831 NR2F2_ENST00000394171.2_Intron|NR2F2_ENST00000421109.2_Intron|NR2F2_ENST00000453270.2_5'UTR NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 NA NA anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707) nucleus (GO:0005634) ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CCTCGCCGGCTTTCCCCGGCC 0.677 NA T||| 2004 0.40016 0.6112 0.3357 5008 , , NA 10677 0.5635 NA 0.2336 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 16 17 17 NA NA 15 NA 96876611 686 1589 2275 SO:0001627 intron_variant M64497 CCDS10375.1, CCDS45358.1, CCDS45359.1 15q26 2013-01-16 ENSG00000185551 ENSG00000185551 7026 Nuclear hormone receptors 7976 protein-coding gene gene with protein product 107773 ARP1, TFCOUP2 NA 8530078, 11544252 Standard NM_021005 NA Approved COUP-TFII, COUPTFB, SVP40, NF-E3 uc010uri.2 P24468 OTTHUMG00000149848 ENST00000394166.3:c.443-694T>A chr15.hg19:g.96876611T>A NA B4DQJ2|B6ZGU1|Q03754|Q3KQR7 hg19 CCDS10375.1 0.02 -0.236868 GGCxTTC COVERED NOVEL NR2F2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313534.1 0 8.124425 KEEP 0 0 0 27 861 TT 0.999988 0.612399 0 + 3 60 109 0 0 8.241649 24 60 846 63 ENST00000394166.3 0.111111 0.612407 NR2F2 7026 __UNKNOWN__ __UNKNOWN__ 15 96883321 96883321 __UNKNOWN__ 3'UTR SNP G G T rs11045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:96883321G>T ENST00000394166.3 + 0 5104 NR2F2_ENST00000394171.2_3'UTR NM_021005.3 NP_066285.1 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 NA NA anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707) nucleus (GO:0005634) ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1) 17 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) GGTTGTTGTTGATTTTCTTCC 0.348 NA T||| 2781 0.555312 0.9138 0.4928 5008 , , NA 16391 0.7262 NA 0.2306 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M64497 CCDS10375.1, CCDS45358.1, CCDS45359.1 15q26 2013-01-16 ENSG00000185551 ENSG00000185551 7026 Nuclear hormone receptors 7976 protein-coding gene gene with protein product 107773 ARP1, TFCOUP2 NA 8530078, 11544252 Standard NM_021005 NA Approved COUP-TFII, COUPTFB, SVP40, NF-E3 uc010uri.2 P24468 OTTHUMG00000149848 ENST00000394166.3:c.*2470G>T chr15.hg19:g.96883321G>T NA B4DQJ2|B6ZGU1|Q03754|Q3KQR7 hg19 CCDS10375.1 0.02 8.254531 GTTxATT COVERED NOVEL NR2F2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313534.1 1 51.16627 KEEP 0 0 0 170 6044 GG 1 1 0 + 10 60 354 0 0 22.826738 195 60 7434 488 ENST00000394166.3 0.04878 1 ARRDC4 91947 __UNKNOWN__ __UNKNOWN__ 15 98516107 98516107 __UNKNOWN__ 3'UTR SNP T T C rs3088336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:98516107T>C ENST00000268042.6 + 0 3111 NM_183376.2 NP_899232.2 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 NA NA positive regulation of ubiquitin-protein transferase activity (GO:0051443) endosome (GO:0005768)|plasma membrane (GO:0005886) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TGGGCTTACCTCTCTCCTCTG 0.378 NA T||| 326 0.0650958 0.0061 0.0663 5008 , , NA 18944 0.1597 NA 0.0557 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC028704 CCDS10377.1 15q26.2 2005-08-16 ENSG00000140450 ENSG00000140450 91947 28087 protein-coding gene gene with protein product NA 12477932 Standard NM_183376 NM_183376 NA Approved FLJ36045 uc010bom.3 Q8NCT1 OTTHUMG00000149849 ENST00000268042.6:c.*1690T>C chr15.hg19:g.98516107T>C NA Q6NSI9 hg19 CCDS10377.1 0.02 6.566908 ACCxCTC COVERED NOVEL ARRDC4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313535.1 0 15.343429 KEEP 0 0 0 51 1587 TT 1 1 0 + 9 60 330 0 0 21.737726 173 60 6427 278 ENST00000268042.6 0.049451 1 FAM169B 283777 __UNKNOWN__ __UNKNOWN__ 15 98984447 98984447 __UNKNOWN__ Intron SNP G G T rs72764391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:98984447G>T ENST00000558256.1 - 6 617 FAM169B_ENST00000332908.4_Intron NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B NA NA large_intestine(3)|lung(3)|urinary_tract(1) 7 CTCCCAAGGGGCTGGACAATC 0.473 NA G||| 491 0.0980431 0.0318 0.1081 5008 , , NA 17720 0.1488 NA 0.1243 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 35 33 34 NA NA 15 NA 98984447 686 1588 2274 SO:0001627 intron_variant CCDS45360.1 15q26.3 2008-08-08 ENSG00000185087 ENSG00000185087 283777 26835 protein-coding gene gene with protein product NA Standard NM_182562 NM_182562 NA Approved FLJ39743, KIAA0888L uc002buk.1 Q8N8A8 ENST00000558256.1:c.368-56C>A chr15.hg19:g.98984447G>T NA B5MDL8 hg19 CCDS45360.1 0.02 2.238255 GGGxCTG COVERED NOVEL FAM169B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000415488.1 2 5.11662 KEEP 0 0 0 17 600 GG 0.999366 0.997568 0 - 4 60 155 0 0 10.651942 70 70 2617 114 ENST00000558256.1 0.054054 0.9982 IGF1R 3480 __UNKNOWN__ __UNKNOWN__ 15 99473606 99473606 __UNKNOWN__ Intron SNP A A G rs33982004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:99473606A>G ENST00000558762.1 + 15 3491 IGF1R_ENST00000268035.6_Intron P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor NA NA axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165) caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713) NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) "Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277) AGGGTTGCTAATTTGGGAAAG 0.458 NA A||| 1154 0.230431 0.1346 0.3429 5008 , , NA 19227 0.3909 NA 0.1928 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M69229 CCDS10378.1, CCDS73785.1 15q26.3 2013-02-11 ENSG00000140443 ENSG00000140443 3480 CD molecules, Fibronectin type III domain containing 5465 protein-coding gene gene with protein product 147370 NA 1316909 Standard NM_000875 XM_006720486 NA Approved JTK13, CD221, IGFIR, MGC18216, IGFR uc002bul.3 P08069 OTTHUMG00000149851 ENST00000558762.1:c.2953+72A>G chr15.hg19:g.99473606A>G NA B1B5Y2|Q14CV2|Q9UCC0 hg19 0.02 -0.359574 CTAxTTT COVERED NOVEL IGF1R-002 NOVEL NAGNAG_splice_site|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000415271.1 0 2.70807 KEEP 0 0 0 9 275 AA 0.99254 0.882244 0 + 5 60 180 0 0 13.785066 36 60 1280 51 ENST00000558762.1 0.121951 0.888875 PGPEP1L 145814 __UNKNOWN__ __UNKNOWN__ 15 99544418 99544418 __UNKNOWN__ Intron SNP C C T rs149174294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:99544418C>T ENST00000535714.1 - 2 665 RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.V7M NM_001167902.1 NP_001161374.1 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase I-like NA NA cysteine-type peptidase activity (GO:0008234) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 acactcaccacgagagtccgc 0.458 NA C||| 773 0.154353 0.0469 0.17 5008 , , NA 20819 0.3502 NA 0.0457 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 1 1 1 NA NA 15 NA 99544418 193 151 344 SO:0001627 intron_variant CCDS53977.1, CCDS58400.1 15q26.3 2010-02-16 ENSG00000183571 ENSG00000183571 145814 27080 protein-coding gene gene with protein product NA Standard NM_001102612.2 NM_001102612 NA Approved uc002bum.3 A6NFU8 ENST00000535714.1:c.140+4239G>A chr15.hg19:g.99544418C>T NA H0YF86 hg19 CCDS58400.1 0.02 6.226684 CCAxGAG COVERED 325 0.1488095238095238 28 0.056910569105691054 49 0.13535911602209943 211 0.3688811188811189 37 0.048812664907651716 C 1.763 -0.486281 0.04352 . . ENSG00000183571 ENST00000378919 T 0.31510 1.49 . . . . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.09022 0.002 B 0.01281 0.0 T 0.45190 -0.9278 6 0.49607 T 0.09 -8.6959 . . . . 7 A6NFU8 PGPIL_HUMAN M 7 ENSP00000368199:V7M ENSP00000368199:V7M V - 1 0 PGPEP1L 97361941 0.007000 0.16637 0.018000 0.16275 0.019000 0.09904 0.145000 0.16157 0.119000 0.18210 0.121000 0.15741 GTG NOVEL PGPEP1L-002 PUTATIVE upstream_uORF|basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000415702.1 8 15.348794 KEEP 0 0 0 51 1739 CC 1 1 0 - 9 60 322 0 0 20.608791 189 60 6920 278 ENST00000535714.1 0.045455 1 PGPEP1L 145814 __UNKNOWN__ __UNKNOWN__ 15 99544429 99544429 __UNKNOWN__ Intron SNP G G A rs2593051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:99544429G>A ENST00000535714.1 - 2 665 RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Missense_Mutation_p.P3L NM_001167902.1 NP_001161374.1 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase I-like NA NA cysteine-type peptidase activity (GO:0008234) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 gagagtccgcggcttcattct 0.463 NA G||| 2913 0.581669 0.3956 0.6196 5008 , , NA 21080 0.5605 NA 0.7734 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 1 1 1 NA NA 15 NA 99544429 195 154 349 SO:0001627 intron_variant CCDS53977.1, CCDS58400.1 15q26.3 2010-02-16 ENSG00000183571 ENSG00000183571 145814 27080 protein-coding gene gene with protein product NA Standard NM_001102612.2 NM_001102612 NA Approved uc002bum.3 A6NFU8 ENST00000535714.1:c.140+4228C>T chr15.hg19:g.99544429G>A NA H0YF86 hg19 CCDS58400.1 0.02 9.001974 CGCxGCT COVERED 1346 0.6163003663003663 197 0.40040650406504064 237 0.6546961325966851 329 0.5751748251748252 583 0.7691292875989446 G 9.843 1.191628 0.21954 . . ENSG00000183571 ENST00000378919 T 0.34275 1.37 . . . . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 D 0.76494 0.999 D 0.63283 0.913 T 0.36261 -0.9755 6 0.87932 D 0 -5.5871 . . . rs2593051;rs12899242 3 A6NFU8 PGPIL_HUMAN L 3 ENSP00000368199:P3L ENSP00000368199:P3L P - 2 0 PGPEP1L 97361952 0.007000 0.16637 0.053000 0.19242 0.060000 0.15804 0.170000 0.16663 0.119000 0.18210 0.121000 0.15741 CCG NOVEL PGPEP1L-002 PUTATIVE upstream_uORF|basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000415702.1 7 18.34162 KEEP 0 0 0 61 1995 GG 1 1 0 - 8 60 276 0 0 16.498601 237 60 7762 345 ENST00000535714.1 0.032653 1 ADAMTS17 170691 __UNKNOWN__ __UNKNOWN__ 15 100591992 100591992 __UNKNOWN__ Intron SNP A A T rs4965569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:100591992A>T ENST00000268070.4 - 17 2401 NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 NA NA proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) GCCCGTGGGAATGCCGAATCT 0.473 NA T||| 2032 0.405751 0.5953 0.4294 5008 , , NA 19069 0.4921 NA 0.2028 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ315735 CCDS10383.1 15q24 2014-01-28 2005-08-19 ENSG00000140470 ENSG00000140470 170691 ADAM metallopeptidases with thrombospondin type 1 motif 17109 protein-coding gene gene with protein product 607511 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 NA 11867212 Standard NM_139057 NM_139057 NA Approved FLJ32769, FLJ16363 uc002bvv.1 Q8TE56 OTTHUMG00000149867 ENST00000268070.4:c.2296-56T>A chr15.hg19:g.100591992A>T NA Q2I7G4|Q6ZN75 hg19 CCDS10383.1 0.02 3.948332 GGAxTGC COVERED NOVEL ADAMTS17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313595.1 1 4.146124 KEEP 0 1 32 25 767 AA 0.999988 0.999988 0 - 6 60 218 0 0 13.911375 134 60 4891 206 ENST00000268070.4 0.042857 1 ADAMTS17 170691 __UNKNOWN__ __UNKNOWN__ 15 100594271 100594271 __UNKNOWN__ Intron SNP G G A rs28529328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:100594271G>A ENST00000268070.4 - 16 2243 NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 NA NA proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TAGAAAGCAAGTTGAAGACCA 0.542 NA A||| 1539 0.307308 0.3298 0.3112 5008 , , NA 16830 0.4435 NA 0.2018 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 A 1327,3079 695.0+/-405.9 209,909,1085 74 79 77 5.4 0 15 dbSNP_125 77 1848,6752 730.3+/-406.8 206,1436,2658 no intron ADAMTS17 NM_139057.2 415,2345,3743 AA,AG,GG 21.4884,30.118,24.4118 100594271 3175,9831 2203 4300 6503 SO:0001627 intron_variant AJ315735 CCDS10383.1 15q24 2014-01-28 2005-08-19 ENSG00000140470 ENSG00000140470 170691 ADAM metallopeptidases with thrombospondin type 1 motif 17109 protein-coding gene gene with protein product 607511 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 NA 11867212 Standard NM_139057 NM_139057 NA Approved FLJ32769, FLJ16363 uc002bvv.1 Q8TE56 OTTHUMG00000149867 ENST00000268070.4:c.2138-12C>T chr15.hg19:g.100594271G>A NA Q2I7G4|Q6ZN75 hg19 CCDS10383.1 0.02 6.710103 CAAxTTG COVERED NOVEL ADAMTS17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313595.1 1 5.853074 KEEP 0 1 30 30 1058 GG 0.999997 0.999997 0 - 12 60 429 0 0 29.577204 165 60 6151 236 ENST00000268070.4 0.067797 1 ADAMTS17 170691 __UNKNOWN__ __UNKNOWN__ 15 100594299 100594299 __UNKNOWN__ Intron SNP G G C rs28587358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:100594299G>C ENST00000268070.4 - 16 2243 NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 NA NA proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) AAGGGGCTGGGGGTAGGGGGA 0.562 NA G||| 1541 0.307708 0.3313 0.3112 5008 , , NA 16574 0.4435 NA 0.2018 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 38 42 41 NA NA 15 NA 100594299 2203 4300 6503 SO:0001627 intron_variant AJ315735 CCDS10383.1 15q24 2014-01-28 2005-08-19 ENSG00000140470 ENSG00000140470 170691 ADAM metallopeptidases with thrombospondin type 1 motif 17109 protein-coding gene gene with protein product 607511 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 NA 11867212 Standard NM_139057 NM_139057 NA Approved FLJ32769, FLJ16363 uc002bvv.1 Q8TE56 OTTHUMG00000149867 ENST00000268070.4:c.2138-40C>G chr15.hg19:g.100594299G>C NA Q2I7G4|Q6ZN75 hg19 CCDS10383.1 0.02 2.853575 TGGxGGT COVERED NOVEL ADAMTS17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313595.1 1 2.443062 KEEP 0 1 34 20 669 GG 0.999869 0.999869 0 - 7 60 195 0 0 11.005181 133 60 4810 175 ENST00000268070.4 0.05 1 CERS3 204219 __UNKNOWN__ __UNKNOWN__ 15 101024866 101024866 __UNKNOWN__ Missense_Mutation SNP A A C rs369847994 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101024866A>C ENST00000394113.1 - 7 986 c.296T>G c.(295-297)aTt>aGt p.I99S CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.I99S|CERS3_ENST00000284382.4_Missense_Mutation_p.I99S Q8IU89 CERS3_HUMAN ceramide synthase 3 99 NA ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291) NA CAGTCCATAAATATCAGTCTG 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 63 55 58 NA NA 15 NA 101024866 2203 4300 6503 SO:0001583 missense CCDS10384.1 15q26.3 2012-11-19 2011-07-08 2011-07-08 ENSG00000154227 ENSG00000154227 204219 Homeoboxes / CERS class 23752 protein-coding gene gene with protein product 615276 LAG1 longevity assurance homolog 3 (S. cerevisiae), LAG1 homolog, ceramide synthase 3 LASS3 NA Standard NM_178842 NM_178842 NA Approved MGC27091 uc002bwb.3 Q8IU89 OTTHUMG00000172568 ENST00000394113.1:c.296T>G chr15.hg19:g.101024866A>C ENSP00000377672:p.Ile99Ser NA Q8NE64|Q8NEN6 hg19 CCDS10384.1 0.02 6.69641 TAAxTAT COVERED . . . . . . . . . . A 22.7 4.318214 0.81469 . . ENSG00000154227 ENST00000284382;ENST00000394113;ENST00000538112 D;D 0.96802 -4.13;-4.13 5.26 5.26 0.73747 Homeodomain-related (1);Homeobox (3);Homeodomain-like (1); 0.418024 0.27654 N 0.018403 D 0.96898 0.8987 M 0.79123 2.44 0.51012 D 0.999905 P 0.43542 0.81 P 0.49887 0.625 D 0.97386 0.9986 10 0.87932 D 0 -10.0331 14.151 0.65384 1.0:0.0:0.0:0.0 . 99 Q8IU89 CERS3_HUMAN S 99;110;99 ENSP00000284382:I99S;ENSP00000437640:I99S ENSP00000284382:I99S I - 2 0 CERS3 98842389 1.000000 0.71417 1.000000 0.80357 0.986000 0.74619 7.072000 0.76777 1.982000 0.57802 0.533000 0.62120 ATT NOVEL CERS3-002 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000313594.4 0 11.434964 KEEP 0 0 0 38 1217 AA 1 1 0 - 6 60 235 0 0 14.798895 184 60 6745 276 ENST00000394113.1 0.031579 1 LINS 55180 __UNKNOWN__ __UNKNOWN__ 15 101108222 101108222 __UNKNOWN__ 3'UTR SNP G G A rs35162203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101108222G>A ENST00000314742.8 - 0 3717 NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) NA NA central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 CTGCCTTAATGCCAGACTTCG 0.328 NA G||| 740 0.147764 0.1362 0.1844 5008 , , NA 17852 0.2431 NA 0.0865 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095448 CCDS10385.1 15q26.3 2010-09-08 2010-09-08 2010-09-08 ENSG00000140471 ENSG00000140471 55180 30922 protein-coding gene gene with protein product 610350 lines homolog 1 (Drosophila) LINS1 NA 12119551, 8889548 Standard NM_018148 NM_001040616 NA Approved WINS1 uc002bwg.3 Q8NG48 OTTHUMG00000149865 ENST00000314742.8:c.*1221C>T chr15.hg19:g.101108222G>A NA Q96FW2|Q9NVQ3 hg19 CCDS10385.1 0.02 6.382199 AATxCCA COVERED NOVEL LINS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313592.1 2 7.223686 KEEP 0 0 0 24 861 GG 0.999909 0.999909 0 - 6 60 216 0 0 13.214693 163 60 6169 230 ENST00000314742.8 0.035503 1 LINS 55180 __UNKNOWN__ __UNKNOWN__ 15 101109818 101109818 __UNKNOWN__ Silent SNP G G A rs12460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101109818G>A ENST00000314742.8 - 7 2121 c.1899C>T c.(1897-1899)gaC>gaT p.D633D NM_001040616.2 NP_001035706 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 633 NA central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 CGTCAGAATCGTCAGAGCTGT 0.498 NA A||| 2285 0.45627 0.3661 0.4337 5008 , , NA 18985 0.4911 NA 0.5378 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 A 1734,2672 649.2+/-398.8 314,1106,783 95 94 94 1899 -2 1 15 dbSNP_52 94 4797,3803 538.0+/-383.3 1360,2077,863 no coding-synonymous LINS NM_001040616.2 1674,3183,1646 AA,AG,GG 44.2209,39.3554,49.7847 633/758 101109818 6531,6475 2203 4300 6503 SO:0001819 synonymous_variant AK095448 CCDS10385.1 15q26.3 2010-09-08 2010-09-08 2010-09-08 ENSG00000140471 ENSG00000140471 55180 30922 protein-coding gene gene with protein product 610350 lines homolog 1 (Drosophila) LINS1 NA 12119551, 8889548 Standard NM_018148 NM_001040616 NA Approved WINS1 uc002bwg.3 Q8NG48 OTTHUMG00000149865 ENST00000314742.8:c.1899C>T chr15.hg19:g.101109818G>A NA Q96FW2|Q9NVQ3 hg19 CCDS10385.1 0.02 7.631465 ATCxTCA COVERED NOVEL LINS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313592.1 3 16.553484 KEEP 0 0 0 55 1930 GG 1 1 0 - 7 60 246 0 0 14.185369 235 60 8418 348 ENST00000314742.8 0.028926 1 ALDH1A3 220 __UNKNOWN__ __UNKNOWN__ 15 101421673 101421673 __UNKNOWN__ Intron SNP G G A rs3803433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101421673G>A ENST00000329841.5 + 1 631 ALDH1A3_ENST00000557963.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_Intron|ALDH1A3_ENST00000346623.6_Intron NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 NA NA embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) Vitamin A(DB00162) TCAAAATACTGTATATAGAAA 0.368 NA A||| 1846 0.36861 0.5113 0.2839 5008 , , NA 18510 0.5863 NA 0.1859 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U07919 CCDS10389.1 15q26 2010-05-07 ENSG00000184254 ENSG00000184254 220 1.2.1.5 Aldehyde dehydrogenases 409 protein-coding gene gene with protein product retinaldehyde dehydrogenase 3 600463 ALDH6 NA 7698756 Standard XR_111558 NA Approved RALDH3 uc002bwn.4 P47895 OTTHUMG00000149870 ENST00000329841.5:c.99+1462G>A chr15.hg19:g.101421673G>A NA Q6NT64 hg19 CCDS10389.1 0.02 1.728208 ACTxTAT COVERED NOVEL ALDH1A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313620.2 0 5.718157 KEEP 0 0 0 19 648 GG 0.99986 0.999808 0 + 5 60 179 0 0 11.712571 93 60 3461 127 ENST00000329841.5 0.05102 0.999948 ALDH1A3 220 __UNKNOWN__ __UNKNOWN__ 15 101436307 101436307 __UNKNOWN__ Intron SNP C C T rs4646669 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101436307C>T ENST00000329841.5 + 7 1312 ALDH1A3_ENST00000346623.6_Intron|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 NA NA embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) Vitamin A(DB00162) ATTTGACACCCGTGAGCTTTT 0.433 NA C||| 977 0.195088 0.1271 0.2248 5008 , , NA 17526 0.4018 NA 0.1511 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U07919 CCDS10389.1 15q26 2010-05-07 ENSG00000184254 ENSG00000184254 220 1.2.1.5 Aldehyde dehydrogenases 409 protein-coding gene gene with protein product retinaldehyde dehydrogenase 3 600463 ALDH6 NA 7698756 Standard XR_111558 NA Approved RALDH3 uc002bwn.4 P47895 OTTHUMG00000149870 ENST00000329841.5:c.780+56C>T chr15.hg19:g.101436307C>T NA Q6NT64 hg19 CCDS10389.1 0.02 1.842311 ACCxGTG COVERED NOVEL ALDH1A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313620.2 1 8.42685 KEEP 0 0 0 28 968 CC 0.999997 0.999619 0 + 4 60 146 0 0 9.506062 81 60 2834 141 ENST00000329841.5 0.047059 0.999622 ALDH1A3 220 __UNKNOWN__ __UNKNOWN__ 15 101456317 101456317 __UNKNOWN__ 3'UTR SNP G G A rs14226 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101456317G>A ENST00000329841.5 + 0 3410 RP11-66B24.4_ENST00000560068.1_RNA|ALDH1A3_ENST00000346623.6_3'UTR|RP11-66B24.4_ENST00000560461.1_RNA|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 NA NA embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) Vitamin A(DB00162) ATGAGGGCCCGTAACAGAACC 0.388 NA G||| 991 0.197883 0.056 0.2522 5008 , , NA 18647 0.4216 NA 0.1859 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U07919 CCDS10389.1 15q26 2010-05-07 ENSG00000184254 ENSG00000184254 220 1.2.1.5 Aldehyde dehydrogenases 409 protein-coding gene gene with protein product retinaldehyde dehydrogenase 3 600463 ALDH6 NA 7698756 Standard XR_111558 NA Approved RALDH3 uc002bwn.4 P47895 OTTHUMG00000149870 ENST00000329841.5:c.*1339G>A chr15.hg19:g.101456317G>A NA Q6NT64 hg19 CCDS10389.1 0.02 4.352486 CCCxTAA COVERED NOVEL ALDH1A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313620.2 1 8.410371 KEEP 0 0 0 28 901 GG 0.999997 0.999997 0 + 5 60 187 0 0 11.919394 123 60 4197 180 ENST00000329841.5 0.039062 1 ALDH1A3 220 __UNKNOWN__ __UNKNOWN__ 15 101456783 101456783 __UNKNOWN__ 3'UTR SNP C C T rs7045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101456783C>T ENST00000329841.5 + 0 3876 RP11-66B24.4_ENST00000560068.1_RNA|ALDH1A3_ENST00000346623.6_3'UTR|RP11-66B24.4_ENST00000560461.1_RNA|RP11-66B24.4_ENST00000560351.1_RNA NM_000693.2 NP_000684.2 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1 family, member A3 NA NA embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 27 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) Vitamin A(DB00162) AGCTGCAGATCGCATCCCACA 0.373 NA C||| 933 0.186302 0.0151 0.255 5008 , , NA 17980 0.4127 NA 0.1849 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U07919 CCDS10389.1 15q26 2010-05-07 ENSG00000184254 ENSG00000184254 220 1.2.1.5 Aldehyde dehydrogenases 409 protein-coding gene gene with protein product retinaldehyde dehydrogenase 3 600463 ALDH6 NA 7698756 Standard XR_111558 NA Approved RALDH3 uc002bwn.4 P47895 OTTHUMG00000149870 ENST00000329841.5:c.*1805C>T chr15.hg19:g.101456783C>T NA Q6NT64 hg19 CCDS10389.1 0.02 1.745864 GATxGCA COVERED NOVEL ALDH1A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313620.2 3 18.658871 KEEP 0 0 0 62 2111 CC 1 0.99993 0 + 5 60 185 0 0 12.357884 91 60 3142 208 ENST00000329841.5 0.052083 0.99993 LRRK1 79705 __UNKNOWN__ __UNKNOWN__ 15 101527052 101527052 __UNKNOWN__ Intron SNP A A G rs1551467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101527052A>G ENST00000388948.3 + 5 792 LRRK1_ENST00000532029.2_Intron|LRRK1_ENST00000284395.5_Intron NM_024652.3 NP_078928.3 leucine-rich repeat kinase 1 NA NA breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) agaagcttccaaactttcaga 0.463 NA G||| 1962 0.391773 0.4667 0.4395 5008 , , NA 21570 0.5069 NA 0.2664 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058693 CCDS42086.1 15q26.3 2007-01-29 ENSG00000154237 ENSG00000154237 79705 18608 protein-coding gene gene with protein product 610986 NA 11347906, 14654223 Standard NM_024652 XM_005254979 NA Approved FLJ23119, KIAA1790, Roco1, RIPK6 uc002bwr.3 Q38SD2 OTTHUMG00000165514 ENST00000388948.3:c.434-1787A>G chr15.hg19:g.101527052A>G NA hg19 CCDS42086.1 0.02 5.763068 TCCxAAC COVERED NOVEL LRRK1-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384567.2 0 17.148865 KEEP 0 0 0 57 1718 AA 1 1 0 + 10 60 323 0 0 20.095524 184 60 6770 314 ENST00000388948.3 0.051546 1 LRRK1 79705 __UNKNOWN__ __UNKNOWN__ 15 101527096 101527096 __UNKNOWN__ Intron SNP G G C rs1551466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101527096G>C ENST00000388948.3 + 5 792 LRRK1_ENST00000532029.2_Intron|LRRK1_ENST00000284395.5_Intron NM_024652.3 NP_078928.3 leucine-rich repeat kinase 1 NA NA breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) tttttcctacgactctgacca 0.468 NA C||| 2417 0.482628 0.5877 0.5043 5008 , , NA 21008 0.5258 NA 0.4036 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058693 CCDS42086.1 15q26.3 2007-01-29 ENSG00000154237 ENSG00000154237 79705 18608 protein-coding gene gene with protein product 610986 NA 11347906, 14654223 Standard NM_024652 XM_005254979 NA Approved FLJ23119, KIAA1790, Roco1, RIPK6 uc002bwr.3 Q38SD2 OTTHUMG00000165514 ENST00000388948.3:c.434-1743G>C chr15.hg19:g.101527096G>C NA hg19 CCDS42086.1 0.02 4.886881 TACxACT COVERED NOVEL LRRK1-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384567.2 0 8.126032 KEEP 0 0 0 27 919 GG 0.999988 0.999987 0 + 6 60 228 0 0 15.232766 118 60 4370 157 ENST00000388948.3 0.048387 0.999999 LRRK1 79705 __UNKNOWN__ __UNKNOWN__ 15 101527411 101527411 __UNKNOWN__ Intron SNP C C T rs2168376|rs386787397|rs372647718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101527411C>T ENST00000388948.3 + 5 792 LRRK1_ENST00000532029.2_Intron|LRRK1_ENST00000284395.5_Intron NM_024652.3 NP_078928.3 leucine-rich repeat kinase 1 NA NA breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AATACAGGGCCATCCTGACCC 0.498 NA C||| 1814 0.36222 0.3517 0.4352 5008 , , NA 19803 0.5079 NA 0.2714 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058693 CCDS42086.1 15q26.3 2007-01-29 ENSG00000154237 ENSG00000154237 79705 18608 protein-coding gene gene with protein product 610986 NA 11347906, 14654223 Standard NM_024652 XM_005254979 NA Approved FLJ23119, KIAA1790, Roco1, RIPK6 uc002bwr.3 Q38SD2 OTTHUMG00000165514 ENST00000388948.3:c.434-1428C>T chr15.hg19:g.101527411C>T NA hg19 CCDS42086.1 0.02 9.01894 GGCxATC COVERED NOVEL LRRK1-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384567.2 1 15.348709 KEEP 0 0 0 51 1770 CC 1 1 0 + 12 60 452 0 0 31.033153 195 60 7257 310 ENST00000388948.3 0.057971 1 LRRK1 79705 __UNKNOWN__ __UNKNOWN__ 15 101527412 101527412 __UNKNOWN__ Intron SNP A A G rs386787397|rs372647718|rs1551465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101527412A>G ENST00000388948.3 + 5 792 LRRK1_ENST00000532029.2_Intron|LRRK1_ENST00000284395.5_Intron NM_024652.3 NP_078928.3 leucine-rich repeat kinase 1 NA NA breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATACAGGGCCATCCTGACCCC 0.498 NA G||| 1815 0.36242 0.3533 0.4337 5008 , , NA 19777 0.5089 NA 0.2704 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058693 CCDS42086.1 15q26.3 2007-01-29 ENSG00000154237 ENSG00000154237 79705 18608 protein-coding gene gene with protein product 610986 NA 11347906, 14654223 Standard NM_024652 XM_005254979 NA Approved FLJ23119, KIAA1790, Roco1, RIPK6 uc002bwr.3 Q38SD2 OTTHUMG00000165514 ENST00000388948.3:c.434-1427A>G chr15.hg19:g.101527412A>G NA hg19 CCDS42086.1 0.02 9.608166 GCCxTCC COVERED NOVEL LRRK1-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384567.2 1 15.343864 KEEP 0 0 0 51 1560 AA 1 1 0 + 12 60 454 0 0 31.208203 196 60 7070 306 ENST00000388948.3 0.057692 1 LRRK1 79705 __UNKNOWN__ __UNKNOWN__ 15 101527635 101527635 __UNKNOWN__ Intron SNP G G A rs7176015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101527635G>A ENST00000388948.3 + 5 792 LRRK1_ENST00000532029.2_Intron|LRRK1_ENST00000284395.5_Intron NM_024652.3 NP_078928.3 leucine-rich repeat kinase 1 NA NA breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TAACATTTCAGCCCACACTGC 0.413 NA G||| 2648 0.528754 0.6989 0.5346 5008 , , NA 18135 0.5278 NA 0.4364 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058693 CCDS42086.1 15q26.3 2007-01-29 ENSG00000154237 ENSG00000154237 79705 18608 protein-coding gene gene with protein product 610986 NA 11347906, 14654223 Standard NM_024652 XM_005254979 NA Approved FLJ23119, KIAA1790, Roco1, RIPK6 uc002bwr.3 Q38SD2 OTTHUMG00000165514 ENST00000388948.3:c.434-1204G>A chr15.hg19:g.101527635G>A NA hg19 CCDS42086.1 0.02 17.91486 TCAxCCC COVERED NOVEL LRRK1-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384567.2 2 25.282412 KEEP 0 0 0 84 3031 GG 1 1 0 + 26 60 914 0 0 61.788414 383 60 14605 616 ENST00000388948.3 0.06357 1 LRRK1 79705 __UNKNOWN__ __UNKNOWN__ 15 101609639 101609639 __UNKNOWN__ 3'UTR SNP G G A rs75669738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:101609639G>A ENST00000388948.3 + 0 6993 LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_3'UTR NM_024652.3 NP_078928.3 leucine-rich repeat kinase 1 NA NA breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGCCCTTGGGGGATCCCGGGT 0.607 NA G||| 19 0.00379393 0.0 0.0 5008 , , NA 18303 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058693 CCDS42086.1 15q26.3 2007-01-29 ENSG00000154237 ENSG00000154237 79705 18608 protein-coding gene gene with protein product 610986 NA 11347906, 14654223 Standard NM_024652 XM_005254979 NA Approved FLJ23119, KIAA1790, Roco1, RIPK6 uc002bwr.3 Q38SD2 OTTHUMG00000165514 ENST00000388948.3:c.*586G>A chr15.hg19:g.101609639G>A NA hg19 CCDS42086.1 0.02 14.996378 GGGxGAT COVERED NOVEL LRRK1-003 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384567.2 1 32.805049 KEEP 0 0 0 109 3768 GG 1 1 0 + 12 60 435 0 0 26.28809 355 60 13047 574 ENST00000388948.3 0.032698 1 TM2D3 80213 __UNKNOWN__ __UNKNOWN__ 15 102192014 102192014 __UNKNOWN__ Intron SNP T T A rs3784453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:102192014T>A ENST00000347970.3 - 1 121 TM2D3_ENST00000333202.3_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Intron NM_025141.3 NP_079417.2 Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AAACACGTTATCCCGGGACAA 0.483 NA T||| 352 0.0702875 0.0 0.1124 5008 , , NA 16187 0.2629 NA 0.003 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 T , 9,4397 15.5+/-35.6 0,9,2194 84 86 85 , 0.2 0.1 15 dbSNP_107 85 18,8582 11.9+/-42.8 0,18,4282 no intron,intron TM2D3 NM_025141.3,NM_078474.2 , 0,27,6476 AA,AT,TT 0.2093,0.2043,0.2076 , , 102192014 27,12979 2203 4300 6503 SO:0001627 intron_variant AK094955 CCDS10392.1, CCDS10393.1 15q26.3 2014-02-12 ENSG00000184277 ENSG00000184277 80213 24128 protein-coding gene gene with protein product 610014 NA 11278849 Standard NM_078474 XM_005254980 NA Approved BLP2, FLJ22604 uc002bxi.3 Q9BRN9 OTTHUMG00000149872 ENST00000347970.3:c.91+459A>T chr15.hg19:g.102192014T>A NA B2RDK9|Q9H046|Q9H651 hg19 CCDS10392.1 0.02 12.43047 TTAxCCC COVERED NOVEL TM2D3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313622.2 2 55.312914 KEEP 0 0 0 184 5715 TT 1 1 0 - 9 60 325 0 0 19.150033 299 60 10723 620 ENST00000347970.3 0.029221 1 DNM1P47 100216544 __UNKNOWN__ __UNKNOWN__ 15 102294430 102294430 __UNKNOWN__ RNA SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:102294430A>T ENST00000561463.1 + 0 2476 DNM1 pseudogene 47 NA NA NA GAACGAGAAGACACTCATGGA 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544 35200 pseudogene pseudogene DNM1DN14@ NA Standard NG_009149 NG_009149 NA Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: chr15.hg19:g.102294430A>T NA hg19 0.02 -0.263163 AAGxCAC UNCOVERED NOVEL DNM1P47-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417589.1 4 2.406546 KEEP 30 0 0 8 235 AA 0 0 0 + 4 23 143 0 0 11.222249 24 43 840 74 ENST00000561463.1 0.142857 0.693668 DNM1P47 100216544 __UNKNOWN__ __UNKNOWN__ 15 102294463 102294463 __UNKNOWN__ RNA SNP C C A rs377608172 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:102294463C>A ENST00000561463.1 + 0 2509 DNM1 pseudogene 47 NA NA NA GCAGGCACAGCGGTGTGACGA 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544 35200 pseudogene pseudogene DNM1DN14@ NA Standard NG_009149 NG_009149 NA Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: chr15.hg19:g.102294463C>A NA hg19 0.02 -0.280671 CAGxGGT UNCOVERED NOVEL DNM1P47-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417589.1 7 3.611547 KEEP 40 0 0 12 407 CC 0 0 0 + 4 27 118 0 0 8.601858 26 43 940 91 ENST00000561463.1 0.133333 0.739671 DNM1P47 100216544 __UNKNOWN__ __UNKNOWN__ 15 102299849 102299849 __UNKNOWN__ RNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:102299849G>A ENST00000561463.1 + 0 7895 DNM1 pseudogene 47 NA NA NA GCAGACCAAGGAGTTCATCTT 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AJ576276 15q26.3 2013-04-25 ENSG00000259660 ENSG00000259660 100216544 35200 pseudogene pseudogene DNM1DN14@ NA Standard NG_009149 NG_009149 NA Approved DNM1DN14-3 OTTHUMG00000172265 ENST00000561463.1: chr15.hg19:g.102299849G>A NA hg19 0.02 -0.359671 AAGxAGT COVERED NOVEL DNM1P47-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417589.1 0 3.446448 KEEP 60 1 33 23 807 GG 0.994391 0.883889 0 + 12 27 420 0 0 37.114246 28 40 1025 131 ENST00000561463.1 0.3 0.888875 DDX11L9 100288486 __UNKNOWN__ __UNKNOWN__ 15 102517302 102517302 __UNKNOWN__ RNA SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr15:102517302T>C ENST00000562189.1 - 0 1110 NR_034090.1|NR_051986.1 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 9 NA NA NA CAGCTAACTTTAGTTATTATA 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AM992880 15q26.3 2014-03-18 2012-02-23 ENSG00000248472 ENSG00000248472 100288486 37109 pseudogene pseudogene DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 9 NA 19476624 Standard NR_034090 NA Approved uc010utv.1 OTTHUMG00000172276 ENST00000562189.1: chr15.hg19:g.102517302T>C NA hg19 0.02 -0.193005 CTTxAGT UNCOVERED NOVEL DDX11L9-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417615.1 0 3.008473 KEEP 20 0 0 10 302 TT 0 0 0 - 3 23 113 0 0 8.926149 19 24 669 51 ENST00000562189.1 0.136364 0.457757 SNRNP25 79622 __UNKNOWN__ __UNKNOWN__ 16 103923 103923 __UNKNOWN__ 3'UTR SNP C C G rs2562145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:103923C>G ENST00000493672.1 + 0 25 SNRNP25_ENST00000383018.3_5'UTR Q9BV90 SNR25_HUMAN small nuclear ribonucleoprotein 25kDa (U11/U12) NA NA mRNA processing (GO:0006397)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689) large_intestine(1)|lung(2) 3 AGACGGAGGCCGCGGGTGGGC 0.711 NA OREG0003709|OREG0003710 type=REGULATORY REGION|Gene=C16orf33|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=POLR3K|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay C||| 2660 0.53115 0.4312 0.513 5008 , , NA 10713 0.5843 NA 0.6034 False NA ,,, NA NA NA 2504 0.5501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001381 CCDS10396.1 16p13.3 2011-10-11 2008-10-29 2008-10-29 ENSG00000161981 ENSG00000161981 79622 14161 protein-coding gene gene with protein product U11/U12 snRNP 25K chromosome 16 open reading frame 33 C16orf33 NA 15146077 Standard NM_024571 NM_024571 NA Approved uc002cfj.4 Q9BV90 OTTHUMG00000060720 ENST00000493672.1:c.*22C>G chr16.hg19:g.103923C>G 585 Q1W6H3|Q6IEF8|Q9H5W4 hg19 0.02 9.763069 GGCxGCG COVERED NOVEL SNRNP25-007 KNOWN not_organism_supported|NMD_likely_if_extended|basic processed_transcript NA protein_coding OTTHUMT00000318418.3 4 38.791638 KEEP 0 0 0 129 4194 CC 1 1 0 + 16 60 555 0 0 38.800418 188 60 6053 446 ENST00000493672.1 0.078431 1 PDIA2 64714 __UNKNOWN__ __UNKNOWN__ 16 336660 336660 __UNKNOWN__ Silent SNP G G A rs11647490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:336660G>A ENST00000219406.6 + 9 1365 c.1347G>A c.(1345-1347)acG>acA p.T449T PDIA2_ENST00000404312.1_Silent_p.T446T NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 449 Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}. NA cell redox homeostasis (GO:0045454)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein retention in ER lumen (GO:0006621)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783) protein disulfide isomerase activity (GO:0003756)|steroid binding (GO:0005496) breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TGGATGCCACGGCCAACGAGC 0.612 NA g||| 2954 0.589856 0.3185 0.6859 5008 , , NA 16810 0.8085 NA 0.5835 False NA ,,, NA NA NA 2504 0.6697 NA NA NA NA 0 1662,2658 336,990,834 45 47 47 1347 -9.2 0.8 16 dbSNP_120 47 4841,3643 1394,2053,795 no coding-synonymous PDIA2 NM_006849.2 1730,3043,1629 AA,AG,GG 42.9397,38.4722,49.2112 449/526 336660 6503,6301 2160 4242 6402 SO:0001819 synonymous_variant U19948 CCDS42089.1 16p13.3 2009-11-20 2005-06-29 2005-03-03 ENSG00000185615 ENSG00000185615 64714 5.3.4.1 Protein disulfide isomerases 14180 protein-coding gene gene with protein product 608012 protein disulfide isomerase, pancreatic, protein disulfide isomerase-associated 2 PDIP NA 8561901 Standard NM_006849 NM_006849 NA Approved PDA2, PDI, PDIR uc002cgo.1 Q13087 OTTHUMG00000064891 ENST00000219406.6:c.1347G>A chr16.hg19:g.336660G>A NA A6ZJ64|B4DI27|Q2WGM4|Q4TT67|Q6B010|Q96KJ6|Q9BW95 hg19 CCDS42089.1 0.02 18.261451 CACxGCC COVERED NOVEL PDIA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139315.3 1 6.39457 KEEP 0 5 162 78 2676 GG 1 1 0 + 21 60 779 0 0 51.344131 417 60 14661 653 ENST00000219406.6 0.047945 1 NME4 4833 __UNKNOWN__ __UNKNOWN__ 16 449554 449554 __UNKNOWN__ Intron SNP G G C rs2071914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:449554G>C ENST00000219479.2 + 4 341 NME4_ENST00000450036.1_Intron|NME4_ENST00000397722.1_Intron|NME4_ENST00000382940.4_Intron NM_005009.2 NP_005000.1 O00746 NDKM_HUMAN NME/NM23 nucleoside diphosphate kinase 4 NA NA CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550) NS(1)|lung(1)|stomach(1)|urinary_tract(1) 4 Hepatocellular(16;0.00015) CCCAGCAAAGGGAGGGGCCCT 0.632 NA G||| 610 0.121805 0.1203 0.1225 5008 , , NA 17281 0.2242 NA 0.1034 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y07604 CCDS10408.1, CCDS66886.1, CCDS73797.1 16p13.3 2013-04-29 2012-05-18 ENSG00000103202 ENSG00000103202 4833 7852 protein-coding gene gene with protein product 601818 non-metastatic cells 4, protein expressed in NA 9099850, 19852809 Standard NM_005009 NM_005009 NA Approved nm23-H4, NM23H4, NDPKD uc002cgz.3 O00746 OTTHUMG00000047995 ENST00000219479.2:c.328-73G>C chr16.hg19:g.449554G>C NA A2IDD0|Q5U0M9 hg19 CCDS10408.1 0.02 16.118117 AAGxGAG COVERED NOVEL NME4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109256.2 3 23.546866 KEEP 0 2 68 102 3568 GG 1 1 0 + 11 60 421 0 0 26.086057 342 60 12684 569 ENST00000219479.2 0.031161 1 RAB11FIP3 9727 __UNKNOWN__ __UNKNOWN__ 16 544906 544906 __UNKNOWN__ Intron SNP G G T rs12920985 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:544906G>T ENST00000262305.4 + 6 1653 RAB11FIP3_ENST00000457159.1_Intron|RAB11FIP3_ENST00000450428.1_Intron NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) NA NA cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192) centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037) ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) GATCACATGAGCCGGGGAGGT 0.657 NA NA NA NA NA NA NA NA NA NA Melanoma(160;2366 2595 4474 8099) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014565 CCDS32351.1, CCDS45364.1 16p13.3 2013-01-10 ENSG00000090565 ENSG00000090565 9727 EF-hand domain containing 17224 protein-coding gene gene with protein product 608738 NA 9734811, 11481332 Standard NM_014700 NM_014700 NA Approved KIAA0665, Rab11-FIP3, eferin uc002chf.3 O75154 OTTHUMG00000047843 ENST00000262305.4:c.1266-1918G>T chr16.hg19:g.544906G>T NA B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0 hg19 CCDS32351.1 0.02 -0.26318 TGAxCCG UNCOVERED NOVEL RAB11FIP3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000109066.4 1 3.310932 KEEP 19 0 0 11 398 GG 0 0 0 + 4 22 140 0 0 10.793358 26 52 924 82 ENST00000262305.4 0.133333 0.693668 CAPN15 6650 __UNKNOWN__ __UNKNOWN__ 16 603884 603884 __UNKNOWN__ 3'UTR SNP C C G rs11539618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:603884C>G ENST00000219611.2 + 0 3992 NM_005632.2 NP_005623.1 O75808 CAN15_HUMAN calpain 15 NA NA proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737) calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA AAAACCAAATCTGGGTGTCAG 0.677 NA C||| 2284 0.45607 0.4092 0.33 5008 , , NA 12343 0.8135 NA 0.2922 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U85647 CCDS10410.1 16p13.3 2013-06-27 2013-06-27 2013-06-27 ENSG00000103326 ENSG00000103326 6650 11182 protein-coding gene gene with protein product 603267 small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila) SOLH NA 9722942 Standard NM_005632 NM_005632 NA Approved uc002chi.3 O75808 OTTHUMG00000119059 ENST00000219611.2:c.*368C>G chr16.hg19:g.603884C>G NA B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0 hg19 CCDS10410.1 0.02 6.335091 AATxTGG COVERED NOVEL CAPN15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239271.1 4 12.941721 KEEP 0 0 0 43 1494 CC 1 1 0 + 9 60 327 0 0 21.120743 188 60 7095 256 ENST00000219611.2 0.045685 1 CAPN15 6650 __UNKNOWN__ __UNKNOWN__ 16 604554 604554 __UNKNOWN__ 3'UTR SNP T T C rs7763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:604554T>C ENST00000219611.2 + 0 4662 NM_005632.2 NP_005623.1 O75808 CAN15_HUMAN calpain 15 NA NA proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737) calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA CAATTGTCAGTCCCGTTCCTT 0.463 NA C||| 2399 0.479034 0.4962 0.3458 5008 , , NA 18161 0.8105 NA 0.2952 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U85647 CCDS10410.1 16p13.3 2013-06-27 2013-06-27 2013-06-27 ENSG00000103326 ENSG00000103326 6650 11182 protein-coding gene gene with protein product 603267 small optic lobes (Drosophila) homolog, small optic lobes homolog (Drosophila) SOLH NA 9722942 Standard NM_005632 NM_005632 NA Approved uc002chi.3 O75808 OTTHUMG00000119059 ENST00000219611.2:c.*1038T>C chr16.hg19:g.604554T>C NA B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0 hg19 CCDS10410.1 0.02 24.38477 CAGxCCC COVERED NOVEL CAPN15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000239271.1 2 23.772576 KEEP 0 0 0 79 2544 TT 1 1 0 + 27 60 933 0 0 59.521014 541 60 19297 811 ENST00000219611.2 0.047535 1 WDR90 197335 __UNKNOWN__ __UNKNOWN__ 16 705919 705919 __UNKNOWN__ Intron SNP C C G rs547989589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:705919C>G ENST00000293879.4 + 17 1966 WDR90_ENST00000549091.1_Intron|LA16c-349E10.1_ENST00000573609.1_RNA Q96KV7 WDR90_HUMAN WD repeat domain 90 NA NA endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CTCCCAACTCCGGGAGAGCCT 0.701 NA C||| 82 0.0163738 0.0 0.0 5008 , , NA 14728 0.0704 NA 0.0099 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 18 19 19 NA NA 16 NA 705919 2063 4181 6244 SO:0001627 intron_variant AB067511 CCDS42092.1 16p13.3 2013-01-09 ENSG00000161996 ENSG00000161996 197335 WD repeat domain containing 26960 protein-coding gene gene with protein product chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18 C16orf17, C16orf15, C16orf16, C16orf19, C16orf18 NA 11572484, 11157797 Standard NM_145294 XM_005255160 NA Approved FLJ36483, KIAA1924 uc002cii.1 Q96KV7 OTTHUMG00000048040 ENST00000293879.4:c.1966+30C>G chr16.hg19:g.705919C>G NA Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18 hg19 CCDS42092.1 0.02 4.785118 CTCxGGG COVERED NOVEL WDR90-002 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000404335.1 0 15.649975 KEEP 0 0 0 52 1776 CC 1 1 0 + 5 60 205 0 0 13.472831 138 70 4786 242 ENST00000293879.4 0.034965 1 MSLN 10232 __UNKNOWN__ __UNKNOWN__ 16 815370 815370 __UNKNOWN__ Intron SNP T T C rs7197395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:815370T>C ENST00000382862.3 + 8 799 MSLN_ENST00000563941.1_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000545450.2_Intron NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin NA NA cell adhesion (GO:0007155)|pancreas development (GO:0031016) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GTGAGGACACTTGCGGCCATG 0.692 NA C||| 2633 0.525759 0.8707 0.3732 5008 , , NA 11778 0.3829 NA 0.2455 False NA ,,, NA NA NA 2504 0.6033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40434 CCDS32356.1, CCDS45370.1 16p13.3 2008-04-16 ENSG00000102854 ENSG00000102854 10232 7371 protein-coding gene gene with protein product 601051 NA 7665620, 8552591 Standard NM_005823 NA Approved CAK1, MPF uc002cjw.2 Q13421 OTTHUMG00000047992 ENST00000382862.3:c.704+67T>C chr16.hg19:g.815370T>C NA D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57 hg19 CCDS32356.1 0.02 2.111547 CACxTGC COVERED NOVEL MSLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109253.2 0 4.503774 KEEP 0 0 0 15 451 TT 0.99649 0.996453 0 + 5 60 192 0 0 12.970144 95 60 3262 137 ENST00000382862.3 0.05 0.999962 MSLN 10232 __UNKNOWN__ __UNKNOWN__ 16 815379 815379 __UNKNOWN__ Intron SNP T T C rs7197402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:815379T>C ENST00000382862.3 + 8 799 MSLN_ENST00000563941.1_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000545450.2_Intron NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin NA NA cell adhesion (GO:0007155)|pancreas development (GO:0031016) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CTTGCGGCCATGCCTCAAGGC 0.677 NA t||| 2644 0.527955 0.8691 0.3674 5008 , , NA 11514 0.3919 NA 0.2505 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U40434 CCDS32356.1, CCDS45370.1 16p13.3 2008-04-16 ENSG00000102854 ENSG00000102854 10232 7371 protein-coding gene gene with protein product 601051 NA 7665620, 8552591 Standard NM_005823 NA Approved CAK1, MPF uc002cjw.2 Q13421 OTTHUMG00000047992 ENST00000382862.3:c.704+76T>C chr16.hg19:g.815379T>C NA D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57 hg19 CCDS32356.1 0.02 1.499546 CCAxGCC COVERED NOVEL MSLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109253.2 0 3.904064 KEEP 0 0 0 13 379 TT 0.994391 0.994227 0 + 7 60 221 0 0 14.76709 83 60 2866 124 ENST00000382862.3 0.077778 0.999835 MSLN 10232 __UNKNOWN__ __UNKNOWN__ 16 816294 816294 __UNKNOWN__ Intron SNP T T G rs3765322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:816294T>G ENST00000382862.3 + 12 1169 MSLN_ENST00000563941.1_Intron|MSLN_ENST00000566549.1_Intron|MSLN_ENST00000545450.2_Intron NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin NA NA cell adhesion (GO:0007155)|pancreas development (GO:0031016) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) CCCCAGCCCCTCTGGGAGTGA 0.577 NA t||| 2467 0.492612 0.8601 0.3631 5008 , , NA 18624 0.4008 NA 0.2376 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 G ,, 3333,1051 717.9+/-408.8 1274,785,133 55 55 55 ,, -6.2 0 16 dbSNP_107 55 2278,6294 383.5+/-340.8 305,1668,2313 no intron,intron,intron MSLN NM_001177355.1,NM_005823.5,NM_013404.4 ,, 1579,2453,2446 GG,GT,TT 26.5749,23.9735,43.3081 ,, ,, 816294 5611,7345 2192 4286 6478 SO:0001627 intron_variant U40434 CCDS32356.1, CCDS45370.1 16p13.3 2008-04-16 ENSG00000102854 ENSG00000102854 10232 7371 protein-coding gene gene with protein product 601051 NA 7665620, 8552591 Standard NM_005823 NA Approved CAK1, MPF uc002cjw.2 Q13421 OTTHUMG00000047992 ENST00000382862.3:c.1075-41T>G chr16.hg19:g.816294T>G NA D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57 hg19 CCDS32356.1 0.02 10.377749 CCCxCTG COVERED NOVEL MSLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109253.2 4 7.823892 KEEP 0 0 0 26 823 TT 0.999988 0.999988 0 + 18 60 598 0 0 40.054504 240 60 8652 327 ENST00000382862.3 0.069767 1 MSLN 10232 __UNKNOWN__ __UNKNOWN__ 16 818559 818559 __UNKNOWN__ Missense_Mutation SNP A A G rs1135210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:818559A>G ENST00000382862.3 + 16 1896 c.1801A>G c.(1801-1803)Atg>Gtg p.M601V MSLN_ENST00000563941.1_Missense_Mutation_p.M593V|MSLN_ENST00000566549.1_Missense_Mutation_p.M593V|MSLN_ENST00000545450.2_Missense_Mutation_p.M593V NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin 601 NA M -> V (in dbSNP:rs1135210). {ECO:0000269|PubMed:10500211, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15616553, ECO:0000269|PubMed:15897581, ECO:0000269|PubMed:7665620, ECO:0000269|PubMed:8552591}. cell adhesion (GO:0007155)|pancreas development (GO:0031016) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) AGACCTCAGCATGCAAGGTGG 0.706 NA G||| 1770 0.353435 0.6059 0.2968 5008 , , NA 10967 0.3115 NA 0.1978 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 G VAL/MET,VAL/MET,VAL/MET 2203,2121 564,1075,523 15 16 16 1777,1777,1801 -6.5 0 16 dbSNP_86 16 1921,6613 222,1477,2568 no missense,missense,missense MSLN NM_001177355.1,NM_005823.5,NM_013404.4 21,21,21 786,2552,3091 GG,GA,AA 22.51,49.0518,32.0734 benign,benign,benign 593/623,593/623,601/631 818559 4124,8734 2162 4267 6429 SO:0001583 missense U40434 CCDS32356.1, CCDS45370.1 16p13.3 2008-04-16 ENSG00000102854 ENSG00000102854 10232 7371 protein-coding gene gene with protein product 601051 NA 7665620, 8552591 Standard NM_005823 NA Approved CAK1, MPF uc002cjw.2 Q13421 OTTHUMG00000047992 ENST00000382862.3:c.1801A>G chr16.hg19:g.818559A>G ENSP00000372313:p.Met601Val NA D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57 hg19 CCDS32356.1 0.02 6.724659 AGCxTGC COVERED 719 0.3292124542124542 305 0.6199186991869918 92 0.2541436464088398 174 0.3041958041958042 148 0.19525065963060687 G 0.008 -1.869221 0.00547 0.509482 0.2251 ENSG00000102854 ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862 T;T 0.08896 3.04;3.04 3.27 -6.54 0.01860 . 1.419940 0.04960 N 0.461970 T 0.00012 0.0000 N 0.00347 -1.61 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.42207 -0.9465 9 0.10111 T 0.7 0.374 3.2179 0.06705 0.2108:0.0953:0.5431:0.1508 rs1135210;rs1803988;rs2272906;rs3178838;rs3197756;rs11558321;rs17143768;rs17855368;rs60036829;rs1135210 592;601;593 Q13421-4;Q13421;Q13421-3 .;MSLN_HUMAN;. V 601;593;593;601 ENSP00000442965:M593V;ENSP00000372313:M601V ENSP00000372313:M601V M + 1 0 MSLN 758560 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.235000 0.09016 -1.745000 0.01337 -2.568000 0.00172 ATG NOVEL MSLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109253.2 4 5.349427 KEEP 0 1 35 30 919 AA 0.999997 0.999997 0 + 9 60 319 0 0 21.057036 155 60 5552 205 ENST00000382862.3 0.054878 1 MSLN 10232 __UNKNOWN__ __UNKNOWN__ 16 818802 818802 __UNKNOWN__ 3'UTR SNP G G A rs1057147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:818802G>A ENST00000382862.3 + 0 2057 MSLN_ENST00000563941.1_3'UTR|MSLN_ENST00000566549.1_3'UTR|MSLN_ENST00000545450.2_3'UTR NM_013404.4 NP_037536.2 Q13421 MSLN_HUMAN mesothelin NA NA cell adhesion (GO:0007155)|pancreas development (GO:0031016) anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) GGCACGGGTGGTCCCCGTTCC 0.672 NA G||| 1087 0.217053 0.2421 0.2349 5008 , , NA 12888 0.2679 NA 0.174 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U40434 CCDS32356.1, CCDS45370.1 16p13.3 2008-04-16 ENSG00000102854 ENSG00000102854 10232 7371 protein-coding gene gene with protein product 601051 NA 7665620, 8552591 Standard NM_005823 NA Approved CAK1, MPF uc002cjw.2 Q13421 OTTHUMG00000047992 ENST00000382862.3:c.*69G>A chr16.hg19:g.818802G>A NA D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57 hg19 CCDS32356.1 0.02 25.779309 GTGxTCC COVERED NOVEL MSLN-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109253.2 1 20.700456 KEEP 0 1 32 80 2832 GG 1 1 0 + 27 60 967 0 0 61.115551 608 60 21762 898 ENST00000382862.3 0.04252 1 CACNA1H 8912 __UNKNOWN__ __UNKNOWN__ 16 1245156 1245156 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1245156C>G ENST00000565831.1 + 2 411 CACNA1H_ENST00000348261.5_Intron|CACNA1H_ENST00000358590.4_Intron O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit NA NA aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810) caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110) breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909) cggagtggggcgggggcgggg 0.711 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL031703 CCDS45375.1, CCDS45376.1 16p13.3 2012-03-07 2007-02-16 8912 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1395 protein-coding gene gene with protein product 607904 NA 9670923, 16382099 Standard NM_001005407 NM_021098 NA Approved Cav3.2 uc002cks.3 O95180 ENST00000565831.1:c.411+73C>G chr16.hg19:g.1245156C>G NA B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5 hg19 CCDS45376.1 0.02 0.965528 GGGxGGG COVERED NOVEL CACNA1H-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421602.2 1 2.730539 KEEP 0 3 15 15 396 CC 0.999859 0.990825 0 + 11 60 181 0 0 11.119909 50 60 1249 89 ENST00000565831.1 0.180328 0.990964 CACNA1H 8912 __UNKNOWN__ __UNKNOWN__ 16 1252369 1252369 __UNKNOWN__ Missense_Mutation SNP C C T rs61734410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1252369C>T ENST00000565831.1 + 8 1919 c.1919C>T c.(1918-1920)cCg>cTg p.P640L CACNA1H_ENST00000348261.5_Missense_Mutation_p.P640L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P640L O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 640 NA P -> L (in dbSNP:rs61734410). {ECO:0000269|PubMed:12891677, ECO:0000269|Ref.7}. aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810) caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110) breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909) GCCGGTGGACCGCCAGGCACC 0.687 NA C||| 2203 0.439896 0.2368 0.4683 5008 , , NA 14593 0.8383 NA 0.3002 False NA ,,, NA NA NA 2504 0.4274 NA NA NA NA 0 C LEU/PRO,LEU/PRO 747,3103 83,581,1261 5 7 7 1919,1919 2.6 0 16 dbSNP_129 7 1905,6109 242,1421,2344 yes missense,missense CACNA1H NM_001005407.1,NM_021098.2 98,98 325,2002,3605 TT,TC,CC 23.7709,19.4026,22.3533 benign,benign 640/2348,640/2354 1252369 2652,9212 1925 4007 5932 SO:0001583 missense AL031703 CCDS45375.1, CCDS45376.1 16p13.3 2012-03-07 2007-02-16 8912 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1395 protein-coding gene gene with protein product 607904 NA 9670923, 16382099 Standard NM_001005407 NM_021098 NA Approved Cav3.2 uc002cks.3 O95180 ENST00000565831.1:c.1919C>T chr16.hg19:g.1252369C>T ENSP00000455840:p.Pro640Leu NA B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5 hg19 CCDS45376.1 0.02 10.597788 GACxGCC COVERED 977 0.44734432234432236 106 0.21544715447154472 149 0.4116022099447514 487 0.8513986013986014 235 0.3100263852242744 C 10.68 1.417079 0.25552 0.194026 0.237709 ENSG00000196557 ENST00000348261;ENST00000358590 D;D 0.96265 -3.96;-3.9 3.55 2.56 0.30785 . 2509.280000 0.00166 N 0.000000 T 0.00012 0.0000 L 0.43152 1.355 0.80722 P 0.0 P;B 0.36378 0.55;0.216 B;B 0.25614 0.062;0.019 T 0.49303 -0.8954 9 0.37606 T 0.19 . 9.4648 0.38806 0.3835:0.6165:0.0:0.0 rs61734410 640;640 O95180-2;O95180 .;CAC1H_HUMAN L 640 ENSP00000334198:P640L;ENSP00000351401:P640L ENSP00000334198:P640L P + 2 0 CACNA1H 1192370 0.001000 0.12720 0.001000 0.08648 0.002000 0.02628 1.293000 0.33353 0.650000 0.30769 0.563000 0.77884 CCG NOVEL CACNA1H-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421602.2 0 31.425062 KEEP 0 1 30 115 3870 CC 1 1 0 + 12 60 437 0 0 28.173819 255 60 9038 497 ENST00000565831.1 0.044944 1 CACNA1H 8912 __UNKNOWN__ __UNKNOWN__ 16 1265600 1265600 __UNKNOWN__ Intron SNP G G A rs2235634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1265600G>A ENST00000565831.1 + 28 5226 CACNA1H_ENST00000348261.5_Intron|CACNA1H_ENST00000358590.4_Intron O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit NA NA aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810) caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110) breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909) CCAGGTAGGTGGAGCCCGCGC 0.682 NA G||| 648 0.129393 0.0061 0.1023 5008 , , NA 14260 0.2232 NA 0.1521 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G , 92,3982 2,88,1947 26 30 29 , -3.2 0 16 dbSNP_98 29 1153,7213 64,1025,3094 no intron,intron CACNA1H NM_001005407.1,NM_021098.2 , 66,1113,5041 AA,AG,GG 13.782,2.2582,10.008 , , 1265600 1245,11195 2037 4183 6220 SO:0001627 intron_variant AL031703 CCDS45375.1, CCDS45376.1 16p13.3 2012-03-07 2007-02-16 8912 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1395 protein-coding gene gene with protein product 607904 NA 9670923, 16382099 Standard NM_001005407 NM_021098 NA Approved Cav3.2 uc002cks.3 O95180 ENST00000565831.1:c.5226+7G>A chr16.hg19:g.1265600G>A NA B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5 hg19 CCDS45376.1 0.02 10.421411 GGTxGAG COVERED NOVEL CACNA1H-002 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421602.2 3 20.727012 KEEP 0 2 60 90 3163 GG 1 1 0 + 10 60 340 1 0 20.502054 243 60 9152 428 ENST00000565831.1 0.039526 1 TELO2 9894 __UNKNOWN__ __UNKNOWN__ 16 1547477 1547477 __UNKNOWN__ Silent SNP T T C rs2745108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1547477T>C ENST00000262319.6 + 5 1077 c.798T>C c.(796-798)gcT>gcC p.A266A NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 266 NA regulation of TOR signaling (GO:0032006) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) protein complex binding (GO:0032403) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CCATGGAGGCTGTGCTGACCG 0.697 NA N||| 1398 0.279153 0.5136 0.268 5008 , , NA 17144 0.251 NA 0.1113 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 1949,2381 427,1095,643 11 12 12 798 -10.1 0 16 dbSNP_100 12 868,7674 48,772,3451 no coding-synonymous TELO2 NM_016111.3 475,1867,4094 CC,CT,TT 10.1616,45.0115,21.8847 266/838 1547477 2817,10055 2165 4271 6436 SO:0001819 synonymous_variant AL080126 CCDS32363.1 16p13.3 2013-08-06 2013-08-06 ENSG00000100726 ENSG00000100726 9894 29099 protein-coding gene gene with protein product 611140 TEL2, telomere maintenance 2, homolog (S. cerevisiae) NA 9734811, 11230166, 12670948 Standard NM_016111 NM_016111 NA Approved KIAA0683, hCLK2, TEL2 uc002cly.3 Q9Y4R8 OTTHUMG00000044471 ENST00000262319.6:c.798T>C chr16.hg19:g.1547477T>C NA D3DU73|O75168|Q7LDV4|Q9BR21 hg19 CCDS32363.1 0.02 3.986143 GGCxGTG COVERED NOVEL TELO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103602.2 1 13.540925 KEEP 0 0 0 45 1413 TT 1 1 0 + 5 60 175 0 0 10.418305 142 60 5226 224 ENST00000262319.6 0.034014 1 TELO2 9894 __UNKNOWN__ __UNKNOWN__ 16 1552876 1552876 __UNKNOWN__ Intron SNP C C G rs2294603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1552876C>G ENST00000262319.6 + 15 2049 TELO2_ENST00000564507.1_Intron NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 NA NA regulation of TOR signaling (GO:0032006) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) protein complex binding (GO:0032403) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GCCCGGAGGTCGCCCCGGGTG 0.672 NA C||| 617 0.123203 0.2716 0.0418 5008 , , NA 14312 0.0565 NA 0.0586 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 C 341,1043 41,259,392 70 68 69 -0.1 0 16 dbSNP_100 69 182,3000 5,172,1414 no intron TELO2 NM_016111.3 46,431,1806 GG,GC,CC 5.7197,24.6387,11.4542 1552876 523,4043 692 1591 2283 SO:0001627 intron_variant AL080126 CCDS32363.1 16p13.3 2013-08-06 2013-08-06 ENSG00000100726 ENSG00000100726 9894 29099 protein-coding gene gene with protein product 611140 TEL2, telomere maintenance 2, homolog (S. cerevisiae) NA 9734811, 11230166, 12670948 Standard NM_016111 NM_016111 NA Approved KIAA0683, hCLK2, TEL2 uc002cly.3 Q9Y4R8 OTTHUMG00000044471 ENST00000262319.6:c.1771-56C>G chr16.hg19:g.1552876C>G NA D3DU73|O75168|Q7LDV4|Q9BR21 hg19 CCDS32363.1 0.02 6.523379 GGTxGCC COVERED NOVEL TELO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103602.2 1 23.451217 KEEP 0 0 0 78 2561 CC 1 1 0 + 7 60 249 0 0 15.283344 180 60 6254 329 ENST00000262319.6 0.037433 1 TELO2 9894 __UNKNOWN__ __UNKNOWN__ 16 1559965 1559965 __UNKNOWN__ 3'UTR SNP T T C rs7191986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1559965T>C ENST00000262319.6 + 0 2821 NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 NA NA regulation of TOR signaling (GO:0032006) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) protein complex binding (GO:0032403) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) AGGACCACCCTCGCCGACAGC 0.672 NA C||| 638 0.127396 0.2474 0.0447 5008 , , NA 15098 0.1002 NA 0.0666 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 C 647,3681 85,477,1602 20 19 20 0.9 0 16 dbSNP_116 20 368,8198 17,334,3932 no utr-3 TELO2 NM_016111.3 102,811,5534 CC,CT,TT 4.2961,14.9492,7.8719 1559965 1015,11879 2164 4283 6447 SO:0001624 3_prime_UTR_variant AL080126 CCDS32363.1 16p13.3 2013-08-06 2013-08-06 ENSG00000100726 ENSG00000100726 9894 29099 protein-coding gene gene with protein product 611140 TEL2, telomere maintenance 2, homolog (S. cerevisiae) NA 9734811, 11230166, 12670948 Standard NM_016111 NM_016111 NA Approved KIAA0683, hCLK2, TEL2 uc002cly.3 Q9Y4R8 OTTHUMG00000044471 ENST00000262319.6:c.*28T>C chr16.hg19:g.1559965T>C NA D3DU73|O75168|Q7LDV4|Q9BR21 hg19 CCDS32363.1 0.02 2.118946 CCCxCGC COVERED NOVEL TELO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103602.2 1 6.317124 KEEP 0 0 0 21 632 TT 0.999869 0.999825 0 + 4 60 159 0 0 10.534661 95 60 3248 131 ENST00000262319.6 0.040404 0.999956 TELO2 9894 __UNKNOWN__ __UNKNOWN__ 16 1560194 1560194 __UNKNOWN__ 3'UTR SNP G G A rs1044603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1560194G>A ENST00000262319.6 + 0 3050 NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 NA NA regulation of TOR signaling (GO:0032006) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932) protein complex binding (GO:0032403) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CGCTGCTGGCGGGGTTGACTC 0.647 NA G||| 490 0.0978435 0.1657 0.0403 5008 , , NA 14583 0.0546 NA 0.0666 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL080126 CCDS32363.1 16p13.3 2013-08-06 2013-08-06 ENSG00000100726 ENSG00000100726 9894 29099 protein-coding gene gene with protein product 611140 TEL2, telomere maintenance 2, homolog (S. cerevisiae) NA 9734811, 11230166, 12670948 Standard NM_016111 NM_016111 NA Approved KIAA0683, hCLK2, TEL2 uc002cly.3 Q9Y4R8 OTTHUMG00000044471 ENST00000262319.6:c.*257G>A chr16.hg19:g.1560194G>A NA D3DU73|O75168|Q7LDV4|Q9BR21 hg19 CCDS32363.1 0.02 6.381325 GGCxGGG COVERED NOVEL TELO2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103602.2 2 20.162649 KEEP 0 0 0 67 2269 GG 1 1 0 + 6 60 213 0 0 12.913811 163 60 5657 300 ENST00000262319.6 0.035503 1 IFT140 9742 __UNKNOWN__ __UNKNOWN__ 16 1573485 1573485 __UNKNOWN__ Intron SNP G G A rs34819117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1573485G>A ENST00000361339.5 - 8 1534 IFT140_ENST00000426508.2_Intron Q96RY7 IF140_HUMAN intraflagellar transport 140 NA NA cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGGTGCCTGCGTGGAGCCGAG 0.652 NA G||| 1007 0.201078 0.264 0.2334 5008 , , NA 15687 0.2391 NA 0.1034 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 G 1052,3344 135,782,1281 20 21 20 -1.4 0 16 dbSNP_126 20 888,7712 41,806,3453 no intron IFT140 NM_014714.3 176,1588,4734 AA,AG,GG 10.3256,23.9308,14.9277 1573485 1940,11056 2198 4300 6498 SO:0001627 intron_variant AB011162 CCDS10439.1 16p13.3 2014-07-03 2014-07-03 2005-11-02 ENSG00000187535 ENSG00000187535 9742 Intraflagellar transport homologs, WD repeat domain containing 29077 protein-coding gene gene with protein product 614620 WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas) WDTC2 NA 9628581 Standard NM_014714 NM_014714 NA Approved gs114, KIAA0590 uc002cmb.3 Q96RY7 OTTHUMG00000128585 ENST00000361339.5:c.1035+33C>T chr16.hg19:g.1573485G>A NA A2A2A8|D3DU75|O60332|Q9UG52 hg19 0.02 -0.438616 TGCxTGG COVERED NOVEL IFT140-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000432772.1 1 5.717488 KEEP 0 0 0 19 608 GG 0.99986 0.959724 0 - 3 60 113 0 0 7.804138 47 60 1564 71 ENST00000361339.5 0.06 0.959859 IFT140 9742 __UNKNOWN__ __UNKNOWN__ 16 1634385 1634385 __UNKNOWN__ Missense_Mutation SNP C C T rs34762152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1634385C>T ENST00000426508.2 - 11 1555 c.1192G>A c.(1192-1194)Gtc>Atc p.V398I IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 398 NA V -> I (in dbSNP:rs34762152). cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) ACGGAGATGACGCTGTTCACT 0.562 NA C||| 429 0.0856629 0.1309 0.036 5008 , , NA 18569 0.0913 NA 0.0626 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 C ILE/VAL 576,3822 247.2+/-255.5 41,494,1664 46 36 40 1192 -8.8 0 16 dbSNP_126 40 564,8036 149.4+/-204.5 25,514,3761 yes missense IFT140 NM_014714.3 29 66,1008,5425 TT,TC,CC 6.5581,13.0969,8.7706 benign 398/1463 1634385 1140,11858 2199 4300 6499 SO:0001583 missense AB011162 CCDS10439.1 16p13.3 2014-07-03 2014-07-03 2005-11-02 ENSG00000187535 ENSG00000187535 9742 Intraflagellar transport homologs, WD repeat domain containing 29077 protein-coding gene gene with protein product 614620 WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas) WDTC2 NA 9628581 Standard NM_014714 NM_014714 NA Approved gs114, KIAA0590 uc002cmb.3 Q96RY7 OTTHUMG00000128585 ENST00000426508.2:c.1192G>A chr16.hg19:g.1634385C>T ENSP00000406012:p.Val398Ile NA A2A2A8|D3DU75|O60332|Q9UG52 hg19 CCDS10439.1 0.02 11.401932 TGAxGCT COVERED 169 0.07738095238095238 65 0.13211382113821138 13 0.03591160220994475 51 0.08916083916083917 40 0.052770448548812667 C 14.15 2.448262 0.43429 0.130969 0.065581 ENSG00000187535 ENST00000397417;ENST00000426508;ENST00000439987 T 0.59364 0.27 5.81 -8.77 0.00827 WD40/YVTN repeat-like-containing domain (1); 1.619900 0.02827 N 0.126242 T 0.00210 0.0006 N 0.01505 -0.83 0.80722 P 0.0 B;B 0.16166 0.001;0.016 B;B 0.08055 0.001;0.003 T 0.02581 -1.1138 9 0.15499 T 0.54 . 2.2341 0.04003 0.1662:0.1126:0.1661:0.555 rs34762152 398;123 Q96RY7;B4DR58 IF140_HUMAN;. I 398 ENSP00000406012:V398I ENSP00000380562:V398I V - 1 0 IFT140 1574386 0.000000 0.05858 0.000000 0.03702 0.011000 0.07611 -1.219000 0.02973 -1.317000 0.02292 0.655000 0.94253 GTC NOVEL IFT140-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250438.2 1 21.661541 KEEP 0 0 0 72 2327 CC 1 1 0 - 10 60 380 0 0 24.473195 244 60 8330 405 ENST00000426508.2 0.03937 1 IFT140 9742 __UNKNOWN__ __UNKNOWN__ 16 1639793 1639793 __UNKNOWN__ Intron SNP C C G rs12447357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1639793C>G ENST00000426508.2 - 7 998 IFT140_ENST00000439987.2_Intron|LA16c-395F10.2_ENST00000563162.1_RNA NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 NA NA cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TGGGGACAAACGTGGGGTCAC 0.502 NA C||| 1091 0.217851 0.3631 0.2493 5008 , , NA 20605 0.2232 NA 0.1083 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 C 1457,2941 470.9+/-355.9 239,979,981 99 73 82 -6.6 0 16 dbSNP_120 82 993,7607 212.8+/-253.0 62,869,3369 no intron IFT140 NM_014714.3 301,1848,4350 GG,GC,CC 11.5465,33.1287,18.8491 1639793 2450,10548 2199 4300 6499 SO:0001627 intron_variant AB011162 CCDS10439.1 16p13.3 2014-07-03 2014-07-03 2005-11-02 ENSG00000187535 ENSG00000187535 9742 Intraflagellar transport homologs, WD repeat domain containing 29077 protein-coding gene gene with protein product 614620 WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas) WDTC2 NA 9628581 Standard NM_014714 NM_014714 NA Approved gs114, KIAA0590 uc002cmb.3 Q96RY7 OTTHUMG00000128585 ENST00000426508.2:c.635-12G>C chr16.hg19:g.1639793C>G NA A2A2A8|D3DU75|O60332|Q9UG52 hg19 CCDS10439.1 0.02 4.489 AAAxGTG COVERED NOVEL IFT140-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250438.2 4 5.718107 KEEP 0 0 0 19 643 CC 0.99986 0.999859 0 - 7 60 257 0 0 17.357218 117 60 3871 170 ENST00000426508.2 0.056452 0.999999 IFT140 9742 __UNKNOWN__ __UNKNOWN__ 16 1642423 1642423 __UNKNOWN__ Intron SNP C C T rs2273679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:1642423C>T ENST00000426508.2 - 5 855 IFT140_ENST00000439987.2_Intron|LA16c-395F10.2_ENST00000563162.1_RNA NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 NA NA cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705) axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) CCACCTCCCCCGATGTAAACA 0.602 NA T||| 1092 0.218051 0.3608 0.2464 5008 , , NA 18423 0.2252 NA 0.1083 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 T 1449,2949 680.1+/-403.8 236,977,986 65 65 65 -4.1 0 16 dbSNP_100 65 995,7605 773.9+/-407.7 62,871,3367 no intron IFT140 NM_014714.3 298,1848,4353 TT,TC,CC 11.5698,32.9468,18.8029 1642423 2444,10554 2199 4300 6499 SO:0001627 intron_variant AB011162 CCDS10439.1 16p13.3 2014-07-03 2014-07-03 2005-11-02 ENSG00000187535 ENSG00000187535 9742 Intraflagellar transport homologs, WD repeat domain containing 29077 protein-coding gene gene with protein product 614620 WD and tetratricopeptide repeats 2, intraflagellar transport 140 homolog (Chlamydomonas) WDTC2 NA 9628581 Standard NM_014714 NM_014714 NA Approved gs114, KIAA0590 uc002cmb.3 Q96RY7 OTTHUMG00000128585 ENST00000426508.2:c.491+44G>A chr16.hg19:g.1642423C>T NA A2A2A8|D3DU75|O60332|Q9UG52 hg19 CCDS10439.1 0.02 3.887129 CCCxGAT COVERED NOVEL IFT140-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250438.2 1 5.115647 KEEP 0 0 0 17 565 CC 0.999366 0.999366 0 - 5 60 174 0 0 10.328375 142 60 4979 165 ENST00000426508.2 0.034014 1 PKD1 5310 __UNKNOWN__ __UNKNOWN__ 16 2139149 2139149 __UNKNOWN__ 3'UTR SNP G G A rs563305714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:2139149G>A ENST00000262304.4 - 0 13699 PKD1_ENST00000423118.1_3'UTR NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) NA NA anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510) basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133) calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AGCAGCAGCCGGGCTGCCATA 0.632 NA G||| 6 0.00119808 0.0 0.0 5008 , , NA 16485 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L33243 CCDS32369.1, CCDS45385.1 16p13.3 2014-01-28 ENSG00000008710 ENSG00000008710 5310 Voltage-gated ion channels / Transient receptor potential cation channels 9008 protein-coding gene gene with protein product polycystin 1, transient receptor potential cation channel, subfamily P, member 1 601313 NA Standard NM_001009944 NA Approved PBP, Pc-1, TRPP1 uc002cos.1 P98161 OTTHUMG00000155795 ENST00000262304.4:c.*579C>T chr16.hg19:g.2139149G>A NA Q15140|Q15141 hg19 CCDS32369.1 0.02 6.52289 GCCxGGC COVERED NOVEL PKD1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000341688.1 3 19.860804 KEEP 0 0 0 66 2201 GG 1 1 0 - 10 60 355 0 0 23.342267 177 60 6242 305 ENST00000262304.4 0.053476 1 PDPK1 5170 __UNKNOWN__ __UNKNOWN__ 16 2649872 2649872 __UNKNOWN__ 3'UTR SNP C C T rs574692618 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:2649872C>T ENST00000342085.4 + 0 3924 PDPK1_ENST00000268673.7_3'UTR NM_002613.4 NP_002604.1 O15530 PDPK1_HUMAN 3-phosphoinositide dependent protein kinase 1 NA NA actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886) 3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 Ovarian(90;0.17) Celecoxib(DB00482) GAGACTCTTCCGTGCGTTCTT 0.557 NA .||| 1 0.000199681 0.0 0.0 5008 , , NA 21537 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF017995 CCDS10472.1, CCDS10473.1, CCDS58411.1 16p13.3 2014-03-20 2014-03-20 ENSG00000140992 ENSG00000140992 5170 8816 protein-coding gene gene with protein product PkB kinase 605213 NA 9094314, 9445477 Standard NM_002613 NA Approved PDK1 uc002cqs.4 O15530 OTTHUMG00000128874 ENST00000342085.4:c.*2104C>T chr16.hg19:g.2649872C>T NA H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5 hg19 CCDS10472.1 0.02 13.807769 TTCxGTG COVERED NOVEL PDPK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250831.3 2 18.058074 KEEP 11 0 0 60 2070 CC 1 1 0 + 22 60 808 1 0 55.795621 322 60 11375 477 ENST00000342085.4 0.063953 1 KCTD5 54442 __UNKNOWN__ __UNKNOWN__ 16 2749228 2749228 __UNKNOWN__ Intron SNP G G C rs182015467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:2749228G>C ENST00000301738.4 + 4 527 KCTD5_ENST00000564195.1_Intron NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 NA NA protein homooligomerization (GO:0051260)|viral process (GO:0016032) cytosol (GO:0005829)|nucleus (GO:0005634) protein complex binding (GO:0032403) haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 CTGGGGAGCAGCTCCATGCAG 0.672 NA g||| 28 0.00559105 0.0 0.0 5008 , , NA 19127 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Ovarian(56;981 1456 4301 50892) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000047 CCDS10475.1 16p13.3 2013-06-20 2013-06-20 ENSG00000167977 ENSG00000167977 54442 21423 protein-coding gene gene with protein product 611285 potassium channel tetramerisation domain containing 5 NA 12477932 Standard NM_018992 NM_018992 NA Approved FLJ20040 uc002crd.3 Q9NXV2 OTTHUMG00000128930 ENST00000301738.4:c.454-594G>C chr16.hg19:g.2749228G>C NA D3DU96 hg19 CCDS10475.1 0.02 9.509376 GCAxCTC COVERED NOVEL KCTD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250909.2 0 24.98157 KEEP 0 0 0 83 2994 GG 1 1 0 + 11 60 428 0 0 28.599898 232 60 8726 402 ENST00000301738.4 0.045267 1 TCEB2 6923 __UNKNOWN__ __UNKNOWN__ 16 2821573 2821573 __UNKNOWN__ 3'UTR SNP C C T rs8017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:2821573C>T ENST00000409906.4 - 0 832 TCEB2_ENST00000262306.7_Missense_Mutation_p.S129N|TCEB2_ENST00000409477.1_3'UTR NM_007108.3 NP_009039.1 Q15370 ELOB_HUMAN transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) NA NA cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654) ubiquitin protein ligase binding (GO:0031625) endometrium(2)|prostate(1) 3 TGTGTTTCTGCTCTTGGCCAT 0.577 NA C||| 2072 0.413738 0.2269 0.5533 5008 , , NA 16789 0.3591 NA 0.5169 False NA ,,, NA NA NA 2504 0.5174 NA NA NA GBM(141;5215 5962) NA 0 C ,ASN/SER 1267,3129 432.6+/-343.3 197,873,1128 103 95 98 ,386 1 0 16 dbSNP_52 98 4575,4025 597.1+/-393.7 1224,2127,949 yes utr-3,missense TCEB2 NM_007108.3,NM_207013.2 ,46 1421,3000,2077 TT,TC,CC 46.8023,28.8217,44.9523 ,benign ,129/162 2821573 5842,7154 2198 4300 6498 SO:0001624 3_prime_UTR_variant L42856 CCDS32374.1, CCDS45387.1 16p12.3 2008-02-05 2002-08-29 ENSG00000103363 ENSG00000103363 6923 11619 protein-coding gene gene with protein product 600787 transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B) NA 7638163 Standard NM_007108 NM_007108 NA Approved SIII uc002crm.3 Q15370 OTTHUMG00000154125 ENST00000409906.4:c.*418G>A chr16.hg19:g.2821573C>T NA B7WPD3 hg19 CCDS45387.1 0.02 13.92085 CTGxTCT COVERED 898 0.41117216117216115 123 0.25 200 0.5524861878453039 194 0.33916083916083917 381 0.5026385224274407 C 9.901 1.206812 0.22205 0.288217 0.531977 ENSG00000103363 ENST00000262306 . . . 3.06 1.03 0.20045 . . . . . T 0.00012 0.0000 N 0.08118 0 0.58432 P 1.0000000000287557E-6 B 0.25105 0.118 B 0.18871 0.023 T 0.44360 -0.9333 7 0.32370 T 0.25 . 3.6722 0.08279 0.2427:0.6226:0.0:0.1347 rs8017;rs1064495;rs3174695;rs8017 129 B7WPD3 . N 129 . ENSP00000262306:S129N S - 2 0 TCEB2 2761574 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 -0.011000 0.12721 0.323000 0.23307 0.609000 0.83330 AGC NOVEL TCEB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000333975.2 0 20.767764 KEEP 0 0 0 69 2493 CC 1 1 0 - 13 60 449 0 0 26.595994 362 60 13645 531 ENST00000409906.4 0.034667 1 FLYWCH1 84256 __UNKNOWN__ __UNKNOWN__ 16 2979640 2979640 __UNKNOWN__ 5'UTR SNP T T C rs11644380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:2979640T>C ENST00000416288.2 + 0 297 FLYWCH1_ENST00000399667.2_5'UTR|FLYWCH1_ENST00000253928.9_5'UTR NM_020912.1|NM_032296.2 NP_065963.1|NP_115672.2 Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) kidney(1)|lung(3) 4 TCCAGGTTCCTTGCTGGGTGC 0.652 NA .||| 1406 0.280751 0.3646 0.3804 5008 , , NA 19151 0.0972 NA 0.3837 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T , 1501,2773 329,843,965 9 11 10 , 0.5 0 16 dbSNP_120 10 3316,5162 708,1900,1631 no utr-5,utr-5 FLYWCH1 NM_020912.1,NM_032296.2 , 1037,2743,2596 CC,CT,TT 39.113,35.1193,37.7745 , , 2979640 4817,7935 2137 4239 6376 SO:0001623 5_prime_UTR_variant AL136585 CCDS45390.1 16p13.3 2013-01-10 2007-06-21 2007-06-21 ENSG00000059122 ENSG00000059122 84256 Zinc fingers 25404 protein-coding gene gene with protein product NA 11230166, 10997877 Standard NM_032296 XM_006720959 NA Approved DKFZp761A132 uc002csc.3 Q4VC44 ENST00000416288.2:c.-47T>C chr16.hg19:g.2979640T>C NA D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0 hg19 CCDS45390.1 0.02 2.136353 TCCxTGC COVERED NOVEL FLYWCH1-002 KNOWN NAGNAG_splice_site|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000436481.1 0 6.053162 KEEP 0 1 31 31 1003 TT 0.999997 0.999937 0 + 5 60 185 0 0 12.335522 92 60 3405 169 ENST00000416288.2 0.051546 0.99994 RP11-473M20.9 0 __UNKNOWN__ __UNKNOWN__ 16 3131566 3131566 __UNKNOWN__ lincRNA SNP G G T rs2741927 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3131566G>T ENST00000571404.1 - 0 210 NA NA NA CTGAGAGGCCGGGGTGTGGCC 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000571404.1: chr16.hg19:g.3131566G>T NA hg19 0.02 -0.412277 GCCxGGG COVERED NOVEL RP11-473M20.9-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000437122.1 1 3.008622 KEEP 1 0 0 10 302 GG 0.992708 0.934874 0 - 10 60 381 0 0 32.307507 37 60 1203 64 ENST00000571404.1 0.212766 0.941741 MEFV 4210 __UNKNOWN__ __UNKNOWN__ 16 3293888 3293888 __UNKNOWN__ Silent SNP C C T rs1231122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3293888C>T ENST00000339854.4 - 9 1263 c.1224G>A c.(1222-1224)ccG>ccA p.P408P MEFV_ENST00000219596.1_Silent_p.P588P|MEFV_ENST00000536379.1_Silent_p.P377P|MEFV_ENST00000541159.1_Missense_Mutation_p.G436R O15553 MEFV_HUMAN Mediterranean fever 588 NA R -> Q (in arFMF; associated with Q-148 and S-369 in cis; dbSNP:rs11466024). {ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:23505238}. inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056) cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634) actin binding (GO:0003779)|zinc ion binding (GO:0008270) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 CAATCAGCTCCGGAACTACGG 0.507 NA T||| 1771 0.353634 0.3306 0.3746 5008 , , NA 19051 0.3958 NA 0.4423 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 T ,ARG/GLY 1501,2893 671.9+/-402.5 244,1013,940 45 47 46 1764,1306 -0.2 0.2 16 dbSNP_87 46 4003,4597 597.6+/-393.8 956,2091,1253 yes coding-synonymous,missense MEFV NM_000243.2,NM_001198536.1 ,125 1200,3104,2193 TT,TC,CC 46.5465,34.1602,42.358 , 588/782,436/446 3293888 5504,7490 2197 4300 6497 SO:0001819 synonymous_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 4210 Tripartite motif containing / Tripartite motif containing 6998 protein-coding gene gene with protein product pyrin 608107 MEF NA 9288094 Standard NM_000243 NM_000243 NA Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.1224G>A chr16.hg19:g.3293888C>T NA D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 hg19 0.02 8.944253 CTCxGGA COVERED 836 0.38278388278388276 143 0.29065040650406504 135 0.3729281767955801 222 0.3881118881118881 336 0.44327176781002636 T 0.649 -0.810459 0.02798 0.341602 0.465465 ENSG00000103313 ENST00000541159 T 0.65549 -0.16 4.83 -0.232 0.13082 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.42120 -0.9470 5 0.31617 T 0.26 -22.9385 0.9747 0.01423 0.1487:0.2594:0.1541:0.4377 rs1231122;rs1801180;rs3843145;rs1231122 . . . R 436 ENSP00000438711:G436R ENSP00000438711:G436R G - 1 0 MEFV 3233889 0.338000 0.24775 0.175000 0.22980 0.018000 0.09664 0.169000 0.16641 -0.445000 0.07159 -0.972000 0.02603 GGA NOVEL MEFV-010 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000398510.1 2 6.32016 KEEP 0 0 0 21 725 CC 0.999869 0.999869 0 - 7 60 261 0 0 16.177347 199 60 6947 264 ENST00000339854.4 0.033981 1 ZNF174 7727 __UNKNOWN__ __UNKNOWN__ 16 3451881 3451881 __UNKNOWN__ 5'UTR SNP C C T rs37810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3451881C>T ENST00000268655.4 + 0 462 ZNF174_ENST00000575752.1_5'UTR|ZNF174_ENST00000344823.5_5'UTR|ZNF174_ENST00000571936.1_5'UTR NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 NA NA negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 GCATCCCGTTCCCCCTAACAT 0.478 NA C||| 1148 0.229233 0.2769 0.2176 5008 , , NA 16900 0.1319 NA 0.2495 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U31248 CCDS10504.1, CCDS32380.1 16p13 2013-01-09 ENSG00000103343 ENSG00000103343 7727 -, Zinc fingers, C2H2-type 12963 protein-coding gene gene with protein product 603900 NA Standard NM_003450 NM_003450 NA Approved ZSCAN8 uc002cvc.3 Q15697 OTTHUMG00000129358 ENST00000268655.4:c.-124C>T chr16.hg19:g.3451881C>T NA Q53Y68|Q9BQ34 hg19 CCDS10504.1 0.02 6.006389 GTTxCCC COVERED NOVEL ZNF174-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251510.1 0 16.853157 KEEP 0 0 0 56 1911 CC 1 1 0 + 8 60 290 0 0 18.436684 181 60 6579 275 ENST00000268655.4 0.042328 1 NAA60 79903 __UNKNOWN__ __UNKNOWN__ 16 3534892 3534892 __UNKNOWN__ Missense_Mutation SNP G G A rs13740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3534892G>A ENST00000421765.3 + 5 742 c.539G>A c.(538-540)cGg>cAg p.R180Q NAA60_ENST00000577013.1_3'UTR|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000576916.1_3'UTR|NAA60_ENST00000407558.4_3'UTR|NAA60_ENST00000575076.1_3'UTR|NAA60_ENST00000414063.2_3'UTR|NAA60_ENST00000424546.2_3'UTR|NAA60_ENST00000360862.5_3'UTR|NAA60_ENST00000610180.1_3'UTR|NAA60_ENST00000608722.1_3'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000570819.1_Silent_p.S156S|NAA60_ENST00000572942.1_Silent_p.S156S|NAA60_ENST00000572584.1_3'UTR|NAA60_ENST00000608993.1_3'UTR Q9H7X0 NAA60_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 0 N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}. NA cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334) Golgi membrane (GO:0000139) H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596) breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 CCCACCCTTCGGCCGCCCGCA 0.647 NA G||| 2822 0.563498 0.3427 0.6873 5008 , , NA 15919 0.5982 NA 0.7256 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 G ,, 1690,2010 422,846,582 5 7 6 ,, -4.4 0 16 dbSNP_52 6 5857,2027 2265,1327,350 no utr-3,utr-3,utr-3 NAA60 NM_001083600.1,NM_001083601.1,NM_024845.2 ,, 2687,2173,932 AA,AG,GG 25.7103,45.6757,34.8498 ,, ,, 3534892 7547,4037 1850 3942 5792 SO:0001583 missense CCDS45396.1 16p13.3 2012-07-13 2011-08-02 2011-08-02 ENSG00000122390 ENSG00000122390 79903 2.3.1.48, 2.3.1.88 N(alpha)-acetyltransferase subunits 25875 protein-coding gene gene with protein product 614246 N-acetyltransferase 15 (GCN5-related, putative) NAT15 NA 12975309, 21750686 Standard NM_024845 NM_001083600 NA Approved FLJ14154 uc010btm.3 Q9H7X0 OTTHUMG00000150268 ENST00000421765.3:c.539G>A chr16.hg19:g.3534892G>A ENSP00000405873:p.Arg180Gln NA B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26 hg19 0.02 23.034534 TTCxGCC COVERED 1319 0.6039377289377289 169 0.3434959349593496 248 0.6850828729281768 354 0.6188811188811189 548 0.7229551451187335 G 14.38 2.517376 0.44763 0.456757 0.742897 ENSG00000122390 ENST00000421765 . . . 4.87 -4.41 0.03590 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.39272 -0.9622 4 0.06891 T 0.86 . 5.2894 0.15719 0.3554:0.2795:0.3651:0.0 rs13740;rs3201241;rs60600163;rs13740 . . . Q 180 . ENSP00000405873:R180Q R + 2 0 NAA60 3474893 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.955000 0.00675 -0.537000 0.06290 -0.367000 0.07326 CGG NOVEL NAA60-004 PUTATIVE NMD_exception|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000437862.1 1 29.662323 KEEP 0 5 152 152 5155 GG 1 1 0 + 29 60 1039 0 0 69.466744 487 60 16321 832 ENST00000421765.3 0.056202 1 NAA60 79903 __UNKNOWN__ __UNKNOWN__ 16 3535540 3535540 __UNKNOWN__ 3'UTR SNP G G A rs2240075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3535540G>A ENST00000360862.5 + 0 1110 NAA60_ENST00000576916.1_3'UTR|NAA60_ENST00000407558.4_3'UTR|NAA60_ENST00000575076.1_3'UTR|NAA60_ENST00000414063.2_3'UTR|NAA60_ENST00000424546.2_3'UTR|NAA60_ENST00000610180.1_3'UTR|NAA60_ENST00000608722.1_3'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000570819.1_3'UTR|NAA60_ENST00000572942.1_3'UTR|NAA60_ENST00000572584.1_3'UTR|NAA60_ENST00000608993.1_3'UTR|NAA60_ENST00000421765.3_3'UTR Q9H7X0 NAA60_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit NA NA cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334) Golgi membrane (GO:0000139) H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596) breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 CGCATGCACCGTCCCCAGGGC 0.657 NA G||| 2821 0.563299 0.3427 0.6873 5008 , , NA 17294 0.5982 NA 0.7247 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45396.1 16p13.3 2012-07-13 2011-08-02 2011-08-02 ENSG00000122390 ENSG00000122390 79903 2.3.1.48, 2.3.1.88 N(alpha)-acetyltransferase subunits 25875 protein-coding gene gene with protein product 614246 N-acetyltransferase 15 (GCN5-related, putative) NAT15 NA 12975309, 21750686 Standard NM_024845 NM_001083600 NA Approved FLJ14154 uc010btm.3 Q9H7X0 OTTHUMG00000150268 ENST00000360862.5:c.*302G>A chr16.hg19:g.3535540G>A NA B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26 hg19 0.02 11.330329 ACCxTCC COVERED NOVEL NAA60-003 PUTATIVE NMD_exception|non_canonical_U12|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000437863.1 3 13.691903 KEEP 0 2 61 67 2262 GG 1 1 0 + 11 60 391 0 0 24.738545 241 70 8363 375 ENST00000360862.5 0.043651 1 SLX4 84464 __UNKNOWN__ __UNKNOWN__ 16 3640477 3640477 __UNKNOWN__ Silent SNP C C T rs76488917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3640477C>T ENST00000294008.3 - 12 3802 c.3162G>A c.(3160-3162)tcG>tcA p.S1054S NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1054 Interaction with PLK1 and TERF2-TERF2IP. NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557) 5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TTGACAGGGACGACCCACTTG 0.657 NA Direct reversal of damage C||| 336 0.0670927 0.0832 0.036 5008 , , NA 15519 0.0327 NA 0.0159 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C 335,4059 173.0+/-202.9 12,311,1874 75 85 82 3162 -10.9 0 16 dbSNP_131 82 93,8507 51.1+/-111.2 0,93,4207 no coding-synonymous SLX4 NM_032444.2 12,404,6081 TT,TC,CC 1.0814,7.624,3.2938 1054/1835 3640477 428,12566 2197 4300 6497 SO:0001819 synonymous_variant AB058687 CCDS10506.2 16p13.3 2014-09-17 2013-06-05 2010-09-13 ENSG00000188827 ENSG00000188827 84464 Fanconi anemia, complementation groups, BTB/POZ domain containing 23845 protein-coding gene gene with protein product Fanconi anemia, complementation group P 613278 BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) BTBD12 NA 11347906, 19595721 Standard NM_032444 NM_032444 NA Approved KIAA1784, KIAA1987, FANCP uc002cvp.2 Q8IY92 OTTHUMG00000074089 ENST00000294008.3:c.3162G>A chr16.hg19:g.3640477C>T NA Q69YT8|Q8TF15|Q96JP1 hg19 CCDS10506.2 0.02 10.733246 GGAxGAC COVERED NOVEL SLX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157301.3 0 10.597882 KEEP 0 2 53 54 1803 CC 1 1 0 - 8 60 301 0 0 18.089007 277 60 9257 417 ENST00000294008.3 0.02807 1 SLX4 84464 __UNKNOWN__ __UNKNOWN__ 16 3646182 3646182 __UNKNOWN__ Silent SNP C C G rs200859735 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3646182C>G ENST00000294008.3 - 8 2536 c.1896G>C c.(1894-1896)ggG>ggC p.G632G NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 632 Interaction with SLX4IP, ERCC4 and MSH2. NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557) 5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CAGCCAGGCCCCCACTGCCGG 0.746 NA Direct reversal of damage NA NA NA NA NA NA NA NA NA NA 0 4 6 5 NA NA 16 NA 3646182 2060 4048 6108 SO:0001819 synonymous_variant AB058687 CCDS10506.2 16p13.3 2014-09-17 2013-06-05 2010-09-13 ENSG00000188827 ENSG00000188827 84464 Fanconi anemia, complementation groups, BTB/POZ domain containing 23845 protein-coding gene gene with protein product Fanconi anemia, complementation group P 613278 BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) BTBD12 NA 11347906, 19595721 Standard NM_032444 NM_032444 NA Approved KIAA1784, KIAA1987, FANCP uc002cvp.2 Q8IY92 OTTHUMG00000074089 ENST00000294008.3:c.1896G>C chr16.hg19:g.3646182C>G NA Q69YT8|Q8TF15|Q96JP1 hg19 CCDS10506.2 0.02 8.702705 GCCxCCA COVERED NOVEL SLX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157301.3 0 17.092887 KEEP 0 0 0 57 1960 CC 1 1 0 - 9 60 337 0 0 21.268237 235 60 8611 393 ENST00000294008.3 0.036885 1 SLX4 84464 __UNKNOWN__ __UNKNOWN__ 16 3656557 3656557 __UNKNOWN__ Silent SNP G G A rs28516461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:3656557G>A ENST00000294008.3 - 3 1318 c.678C>T c.(676-678)caC>caT p.H226H NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 226 Interaction with SLX4IP, ERCC4 and MSH2. NA DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557) 5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047) breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CTTCTGAAGCGTGTCTCAAAC 0.542 NA Direct reversal of damage G||| 660 0.131789 0.3139 0.0576 5008 , , NA 18893 0.0337 NA 0.0179 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G 1109,3285 399.5+/-331.2 132,845,1220 222 221 221 678 -1.2 0 16 dbSNP_125 221 127,8473 64.2+/-126.4 0,127,4173 no coding-synonymous SLX4 NM_032444.2 132,972,5393 AA,AG,GG 1.4767,25.239,9.5121 226/1835 3656557 1236,11758 2197 4300 6497 SO:0001819 synonymous_variant AB058687 CCDS10506.2 16p13.3 2014-09-17 2013-06-05 2010-09-13 ENSG00000188827 ENSG00000188827 84464 Fanconi anemia, complementation groups, BTB/POZ domain containing 23845 protein-coding gene gene with protein product Fanconi anemia, complementation group P 613278 BTB (POZ) domain containing 12, SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) BTBD12 NA 11347906, 19595721 Standard NM_032444 NM_032444 NA Approved KIAA1784, KIAA1987, FANCP uc002cvp.2 Q8IY92 OTTHUMG00000074089 ENST00000294008.3:c.678C>T chr16.hg19:g.3656557G>A NA Q69YT8|Q8TF15|Q96JP1 hg19 CCDS10506.2 0.02 6.881679 AGCxTGT COVERED NOVEL SLX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157301.3 1 15.950392 KEEP 0 0 0 53 1810 GG 1 1 0 - 12 60 459 0 0 32.828669 157 60 5521 280 ENST00000294008.3 0.071006 1 CDIP1 29965 __UNKNOWN__ __UNKNOWN__ 16 4562725 4562725 __UNKNOWN__ Intron SNP G G A rs2270367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:4562725G>A ENST00000564828.1 - 4 373 CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000567695.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000399599.3_Intron|CDIP1_ENST00000563332.2_Intron Q9H305 CDIP1_HUMAN cell death-inducing p53 target 1 NA NA apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209) nucleus (GO:0005634) NA GGCCTGCTGCGGAGGAGGCAG 0.577 NA G||| 596 0.11901 0.003 0.2118 5008 , , NA 16599 0.2817 NA 0.0427 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 G ,,, 62,4224 0,62,2081 37 39 39 ,,, -0.9 0 16 dbSNP_100 39 444,8062 12,420,3821 no intron,intron,intron,intron C16orf5 NM_001199054.1,NM_001199055.1,NM_001199056.1,NM_013399.2 ,,, 12,482,5902 AA,AG,GG 5.2198,1.4466,3.9556 ,,, ,,, 4562725 506,12286 2143 4253 6396 SO:0001627 intron_variant AF131218 CCDS42114.1, CCDS58419.1, CCDS58420.1 16p13.3 2012-11-14 2012-11-14 2012-11-14 ENSG00000089486 ENSG00000089486 29965 13234 protein-coding gene gene with protein product cell death involved p53-target, lipopolysaccharide-induced TNF factor-like 610503 chromosome 16 open reading frame 5 C16orf5 NA 10570909, 17599062 Standard NM_013399 NM_013399 NA Approved CDIP, LITAFL uc002cww.3 Q9H305 OTTHUMG00000177172 ENST00000564828.1:c.137-41C>T chr16.hg19:g.4562725G>A NA A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112 hg19 0.02 6.370302 TGCxGAG COVERED NOVEL CDIP1-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000435721.1 0 9.462658 KEEP 0 1 30 42 1402 GG 1 1 0 - 7 60 249 0 0 15.184211 186 60 6587 279 ENST00000564828.1 0.036269 1 MGRN1 23295 __UNKNOWN__ __UNKNOWN__ 16 4707432 4707432 __UNKNOWN__ Intron SNP A A G rs3747590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:4707432A>G ENST00000262370.7 + 5 732 MGRN1_ENST00000399577.5_Intron|MGRN1_ENST00000588994.1_Intron|MGRN1_ENST00000586183.1_Intron|MGRN1_ENST00000415496.1_Intron NM_015246.3 NP_056061.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase NA NA endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209) cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 GGGTGGGGCCAGCACAGTGGG 0.607 NA A||| 1292 0.257987 0.1657 0.1931 5008 , , NA 15937 0.4236 NA 0.1759 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011116 CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1 16p13 2012-02-23 2012-02-23 23295 RING-type (C3HC4) zinc fingers 20254 protein-coding gene gene with protein product 607559 mahogunin, ring finger 1 NA 9628581 Standard NM_015246 NA Approved KIAA0544, RNF156 uc002cxa.3 O60291 ENST00000262370.7:c.561+68A>G chr16.hg19:g.4707432A>G NA A4URL3|A4URL4|Q86W76 hg19 CCDS42115.1 0.02 2.356317 GCCxGCA COVERED NOVEL MGRN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000432059.2 0 4.81394 KEEP 0 0 0 16 485 AA 0.997832 0.99539 0 + 5 60 174 0 0 11.905541 67 60 2411 100 ENST00000262370.7 0.069444 0.997553 ZNF500 26048 __UNKNOWN__ __UNKNOWN__ 16 4812816 4812816 __UNKNOWN__ Intron SNP G G A rs2290561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:4812816G>A ENST00000545009.1 - 3 712 ZNF500_ENST00000219478.6_Intron NM_021646.1 NP_067678.1 O60304 ZN500_HUMAN zinc finger protein 500 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 21 AAAAATCCCCGCAGGGCCCCA 0.657 NA G||| 722 0.144169 0.0053 0.1556 5008 , , NA 14480 0.2609 NA 0.1481 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB011129 CCDS32383.1 16p13.3 2013-01-09 ENSG00000103199 26048 Zinc fingers, C2H2-type, -, -, - 23716 protein-coding gene gene with protein product NA 9628581 Standard XM_085507 XM_005255243 NA Approved ZKSCAN18, KIAA0557, ZSCAN50 uc002cxp.1 O60304 ENST00000545009.1:c.415-59C>T chr16.hg19:g.4812816G>A NA A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0 hg19 0.02 4.103328 CCCxCAG COVERED NOVEL ZNF500-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000460401.1 0 9.465092 KEEP 0 1 30 42 1467 GG 1 0.999994 0 - 7 60 238 0 0 15.805908 104 60 3737 187 ENST00000545009.1 0.063063 0.999994 PPL 5493 __UNKNOWN__ __UNKNOWN__ 16 4934564 4934564 __UNKNOWN__ Silent SNP C C G rs1049207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:4934564C>G ENST00000345988.2 - 22 4181 c.4092G>C c.(4090-4092)ctG>ctC p.L1364L PPL_ENST00000590782.2_Silent_p.L1362L NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1364 NA keratinization (GO:0031424) cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) structural constituent of cytoskeleton (GO:0005200) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCTCGGCCCGCAGGCCTGGCT 0.677 NA C||| 2107 0.420727 0.1014 0.4697 5008 , , NA 15767 0.6478 NA 0.5308 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 C 688,3706 285.5+/-278.2 56,576,1565 114 125 121 4092 2.4 0.4 16 dbSNP_86 121 4759,3841 607.2+/-395.2 1317,2125,858 no coding-synonymous PPL NM_002705.4 1373,2701,2423 GG,GC,CC 44.6628,15.6577,41.9193 1364/1757 4934564 5447,7547 2197 4300 6497 SO:0001819 synonymous_variant AF013717 CCDS10526.1 16p13.3 2008-02-05 ENSG00000118898 ENSG00000118898 5493 9273 protein-coding gene gene with protein product 602871 NA 9570964, 9521878 Standard NM_002705 NM_002705 NA Approved uc002cyd.1 O60437 OTTHUMG00000129528 ENST00000345988.2:c.4092G>C chr16.hg19:g.4934564C>G NA O60314|O60454|Q14C98 hg19 CCDS10526.1 0.02 14.609039 CCGxAGG COVERED NOVEL PPL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000251715.1 4 33.051771 KEEP 0 3 97 144 5108 CC 1 1 0 - 12 60 426 0 0 24.945055 388 60 14336 688 ENST00000345988.2 0.03 1 C16orf89 146556 __UNKNOWN__ __UNKNOWN__ 16 5097947 5097947 __UNKNOWN__ Missense_Mutation SNP A A G rs1127920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:5097947A>G ENST00000474471.3 - 8 1045 c.983T>C c.(982-984)tTa>tCa p.L328S C16orf89_ENST00000350219.4_Missense_Mutation_p.L334S|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000315997.5_Missense_Mutation_p.L296S|C16orf89_ENST00000422873.1_Missense_Mutation_p.L334S|C16orf89_ENST00000472572.3_Missense_Mutation_p.L296S Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 296 NA cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 AGCTTTAGATAATTCTTCATC 0.328 NA A||| 1132 0.226038 0.0325 0.4337 5008 , , NA 18221 0.2034 NA 0.3678 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 A SER/LEU,SER/LEU 324,3282 13,298,1492 63 56 58 887,887 -2.8 0 16 dbSNP_86 58 2784,5348 479,1826,1761 yes missense,missense C16orf89 NM_001098514.2,NM_152459.4 145,145 492,2124,3253 GG,GA,AA 34.2351,8.985,26.4781 possibly-damaging,possibly-damaging 296/362,296/403 5097947 3108,8630 1803 4066 5869 SO:0001583 missense CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2 16p13.3 2011-12-12 ENSG00000153446 ENSG00000153446 146556 28687 protein-coding gene gene with protein product NA 12975309, 20578903 Standard NM_152459 NM_001098514 NA Approved MGC45438 uc010bud.3 Q6UX73 OTTHUMG00000159314 ENST00000474471.3:c.983T>C chr16.hg19:g.5097947A>G ENSP00000417158:p.Leu328Ser NA B4DUM5|Q8N2I3|Q8N4T1 hg19 0.02 4.547644 GATxATT COVERED 558 0.2554945054945055 21 0.042682926829268296 141 0.38950276243093923 113 0.19755244755244755 283 0.3733509234828496 A 14.34 2.506853 0.44558 0.08985 0.342351 ENSG00000153446 ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997 T;T;T;T 0.40225 1.17;1.04;1.04;1.17 3.59 -2.84 0.05751 . 1.396170 0.04946 N 0.459453 T 0.00012 0.0000 L 0.50333 1.59 0.80722 P 0.0 P;P 0.38922 0.651;0.617 B;B 0.42282 0.212;0.382 T 0.18745 -1.0327 9 0.56958 D 0.05 -23.7719 1.8854 0.03237 0.269:0.1639:0.4064:0.1607 rs1127920;rs3210909;rs9674145;rs11558485;rs17846054;rs17859047;rs52830272;rs9674145 296;334 Q6UX73;G3V0F0 CP089_HUMAN;. S 328;296;296;334;334;328 ENSP00000417158:L328S;ENSP00000420566:L296S;ENSP00000390402:L334S;ENSP00000283478:L334S ENSP00000324672:L328S L - 2 0 C16orf89 5037948 0.000000 0.05858 0.000000 0.03702 0.621000 0.37620 -0.056000 0.11787 -0.796000 0.04456 0.459000 0.35465 TTA NOVEL C16orf89-002 NOVEL non_canonical_TEC|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354525.2 1 7.823342 KEEP 0 0 0 26 809 AA 0.999957 0.999957 0 - 5 60 190 0 0 12.022687 135 60 4861 207 ENST00000474471.3 0.035714 1 C16orf89 146556 __UNKNOWN__ __UNKNOWN__ 16 5106184 5106184 __UNKNOWN__ Silent SNP C C T rs741164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:5106184C>T ENST00000474471.3 - 5 695 c.633G>A c.(631-633)ggG>ggA p.G211G C16orf89_ENST00000350219.4_Silent_p.G249G|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000315997.5_Silent_p.G211G|C16orf89_ENST00000422873.1_Silent_p.G249G|C16orf89_ENST00000472572.3_Silent_p.G211G Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 211 NA cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 CCTGTGTGCACCCCCTCTGGG 0.547 NA T||| 2619 0.522963 0.3971 0.6398 5008 , , NA 15812 0.5665 NA 0.6292 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 T , 1976,2308 475,1026,641 99 103 102 633,633 -11.4 0 16 dbSNP_86 102 5301,3219 1655,1991,614 no coding-synonymous,coding-synonymous C16orf89 NM_001098514.2,NM_152459.4 , 2130,3017,1255 TT,TC,CC 37.7817,46.1251,43.1662 , 211/362,211/403 5106184 7277,5527 2142 4260 6402 SO:0001819 synonymous_variant CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2 16p13.3 2011-12-12 ENSG00000153446 ENSG00000153446 146556 28687 protein-coding gene gene with protein product NA 12975309, 20578903 Standard NM_152459 NM_001098514 NA Approved MGC45438 uc010bud.3 Q6UX73 OTTHUMG00000159314 ENST00000474471.3:c.633G>A chr16.hg19:g.5106184C>T NA B4DUM5|Q8N2I3|Q8N4T1 hg19 0.02 6.313383 GCAxCCC COVERED NOVEL C16orf89-002 NOVEL non_canonical_TEC|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000354525.2 0 6.922282 KEEP 0 0 0 23 807 CC 0.999892 0.999892 0 - 7 60 247 0 0 15.680453 147 60 5442 222 ENST00000474471.3 0.045455 1 RBFOX1 54715 __UNKNOWN__ __UNKNOWN__ 16 6400479 6400479 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:6400479A>C ENST00000547372.1 + 2 372 RBFOX1_ENST00000422070.4_Intron|RP11-420N3.2_ENST00000569895.1_RNA|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000553186.1_Intron Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 NA NA mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658) cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 aaaaaaaaaaaaaaaaaaaaa 0.303 NA NA NA NA NA NA NA NA NA NA Ovarian(157;934 2567 15163 39509) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF107203 CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1 16p13.3 2013-02-12 ENSG00000078328 ENSG00000078328 54715 RNA binding motif (RRM) containing 18222 protein-coding gene gene with protein product ataxin 2-binding protein 1, hexaribonucleotide binding protein 1 605104 NA 10814712, 16260614 Standard NM_145891 NM_018723 NA Approved A2BP1, FOX-1, HRNBP1 uc002cyy.2 Q9NWB1 OTTHUMG00000129551 ENST00000547372.1:c.66+33421A>C chr16.hg19:g.6400479A>C NA Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20 hg19 0.02 -0.035041 AAAxAAA UNCOVERED NOVEL RBFOX1-010 KNOWN basic protein_coding NA protein_coding OTTHUMT00000409494.2 59 2.244344 KEEP 19 1 12 12 330 AA 0 0 0 + 2 60 57 0 1 6.649791 0 0 0 63 ENST00000547372.1 1 0.019982 RBFOX1 54715 __UNKNOWN__ __UNKNOWN__ 16 7759338 7759338 __UNKNOWN__ Intron SNP T T C rs2270126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:7759338T>C ENST00000552089.1 + 14 1289 RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000547338.1_Intron Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 NA NA mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658) cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATGTAAGTTATTATATTTCTA 0.328 NA T||| 346 0.0690895 0.0053 0.0562 5008 , , NA 19454 0.253 NA 0.002 False NA ,,, NA NA NA 2504 0.044 NA NA NA Ovarian(157;934 2567 15163 39509) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF107203 CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1 16p13.3 2013-02-12 ENSG00000078328 ENSG00000078328 54715 RNA binding motif (RRM) containing 18222 protein-coding gene gene with protein product ataxin 2-binding protein 1, hexaribonucleotide binding protein 1 605104 NA 10814712, 16260614 Standard NM_145891 NM_018723 NA Approved A2BP1, FOX-1, HRNBP1 uc002cyy.2 Q9NWB1 OTTHUMG00000129551 ENST00000552089.1:c.1173+205T>C chr16.hg19:g.7759338T>C NA Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20 hg19 0.02 6.484442 TTAxTAT COVERED NOVEL RBFOX1-006 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000409496.1 3 3.30838 KEEP 0 0 0 11 317 TT 0.993072 0.993072 0 + 9 60 330 0 0 21.781091 171 60 6134 192 ENST00000552089.1 0.05 1 ABAT 18 __UNKNOWN__ __UNKNOWN__ 16 8868776 8868776 __UNKNOWN__ Silent SNP C C A rs1641022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8868776C>A ENST00000567812.1 + 13 1291 c.1029C>A c.(1027-1029)gtC>gtA p.V343V ABAT_ENST00000268251.8_Silent_p.V328V|ABAT_ENST00000396600.2_Silent_p.V328V|ABAT_ENST00000425191.2_Silent_p.V328V|ABAT_ENST00000569156.1_Silent_p.V328V P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 328 NA behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268) 4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) (S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TGGACGAGGTCCAGACCGGAG 0.592 NA C||| 1590 0.317492 0.0552 0.3429 5008 , , NA 18174 0.4167 NA 0.4374 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 C ,, 531,3863 240.3+/-251.1 27,477,1693 59 56 57 984,984,984 -1.1 1 16 dbSNP_89 57 3661,4939 524.1+/-380.5 782,2097,1421 no coding-synonymous,coding-synonymous,coding-synonymous ABAT NM_000663.4,NM_001127448.1,NM_020686.5 ,, 809,2574,3114 AA,AC,CC 42.5698,12.0847,32.261 ,, 328/501,328/501,328/501 8868776 4192,8802 2197 4300 6497 SO:0001819 synonymous_variant L32961 CCDS10534.1 16p13.2 2011-01-10 ENSG00000183044 ENSG00000183044 18 2.6.1.19 23 protein-coding gene gene with protein product 4-aminobutyrate transaminase 137150 NA 7721088 Standard NM_020686 NM_020686 NA Approved GABAT uc002czc.4 P80404 OTTHUMG00000048201 ENST00000567812.1:c.1029C>A chr16.hg19:g.8868776C>A NA A8K386|Q16260|Q8N5W2|Q96BG2|Q99800 hg19 0.02 3.864869 GGTxCAG COVERED NOVEL ABAT-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433619.2 0 3.611246 KEEP 0 0 0 12 402 CC 0.993634 0.993615 0 + 6 60 200 0 0 12.907726 98 60 3560 130 ENST00000567812.1 0.057692 0.999981 ABAT 18 __UNKNOWN__ __UNKNOWN__ 16 8875531 8875531 __UNKNOWN__ 3'UTR SNP C C A rs2270289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8875531C>A ENST00000396600.2 + 0 2685 ABAT_ENST00000268251.8_3'UTR|TMEM186_ENST00000564869.1_Intron NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase NA NA behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268) 4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) (S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTGCTTGAGCCCTGGACTCAT 0.557 NA C||| 886 0.176917 0.1112 0.1974 5008 , , NA 16835 0.2391 NA 0.1471 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L32961 CCDS10534.1 16p13.2 2011-01-10 ENSG00000183044 ENSG00000183044 18 2.6.1.19 23 protein-coding gene gene with protein product 4-aminobutyrate transaminase 137150 NA 7721088 Standard NM_020686 NM_020686 NA Approved GABAT uc002czc.4 P80404 OTTHUMG00000048201 ENST00000396600.2:c.*244C>A chr16.hg19:g.8875531C>A NA A8K386|Q16260|Q8N5W2|Q96BG2|Q99800 hg19 CCDS10534.1 0.02 6.815558 AGCxCTG COVERED NOVEL ABAT-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433620.2 1 5.718473 KEEP 0 0 0 19 659 CC 0.99986 0.99986 0 + 7 60 262 0 0 16.963948 158 60 5756 219 ENST00000396600.2 0.042424 1 ABAT 18 __UNKNOWN__ __UNKNOWN__ 16 8876692 8876692 __UNKNOWN__ 3'UTR SNP C C T rs7201586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8876692C>T ENST00000396600.2 + 0 3846 ABAT_ENST00000268251.8_3'UTR|TMEM186_ENST00000564869.1_Intron NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase NA NA behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268) 4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) (S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTTCATCTCCCGGTGCCTTGG 0.423 NA C||| 1396 0.278754 0.2837 0.2334 5008 , , NA 19912 0.3224 NA 0.2614 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L32961 CCDS10534.1 16p13.2 2011-01-10 ENSG00000183044 ENSG00000183044 18 2.6.1.19 23 protein-coding gene gene with protein product 4-aminobutyrate transaminase 137150 NA 7721088 Standard NM_020686 NM_020686 NA Approved GABAT uc002czc.4 P80404 OTTHUMG00000048201 ENST00000396600.2:c.*1405C>T chr16.hg19:g.8876692C>T NA A8K386|Q16260|Q8N5W2|Q96BG2|Q99800 hg19 CCDS10534.1 0.02 6.960668 TCCxGGT COVERED NOVEL ABAT-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433620.2 1 5.417211 KEEP 0 0 0 18 601 CC 0.999859 0.999859 0 + 6 60 221 0 0 13.859916 154 60 5332 205 ENST00000396600.2 0.0375 1 ABAT 18 __UNKNOWN__ __UNKNOWN__ 16 8877591 8877591 __UNKNOWN__ 3'UTR SNP T T A rs9456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8877591T>A ENST00000396600.2 + 0 4745 ABAT_ENST00000268251.8_3'UTR|TMEM186_ENST00000564869.1_Intron NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase NA NA behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268) 4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) (S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GTTCTCGGAGTCCAAAGGGTT 0.443 NA T||| 889 0.177516 0.1097 0.1988 5008 , , NA 19004 0.2391 NA 0.1521 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L32961 CCDS10534.1 16p13.2 2011-01-10 ENSG00000183044 ENSG00000183044 18 2.6.1.19 23 protein-coding gene gene with protein product 4-aminobutyrate transaminase 137150 NA 7721088 Standard NM_020686 NM_020686 NA Approved GABAT uc002czc.4 P80404 OTTHUMG00000048201 ENST00000396600.2:c.*2304T>A chr16.hg19:g.8877591T>A NA A8K386|Q16260|Q8N5W2|Q96BG2|Q99800 hg19 CCDS10534.1 0.02 8.327261 GAGxCCA COVERED NOVEL ABAT-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433620.2 1 12.310927 KEEP 0 0 0 41 1282 TT 1 1 0 + 9 60 291 0 0 17.354245 221 60 7850 337 ENST00000396600.2 0.03913 1 PMM2 5373 __UNKNOWN__ __UNKNOWN__ 16 8889152 8889152 __UNKNOWN__ 3'UTR SNP C C G rs3760026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8889152C>G ENST00000565837.1 + 0 258 PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron|TMEM186_ENST00000333050.6_3'UTR O15305 PMM2_HUMAN phosphomannomutase 2 NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025) phosphomannomutase activity (GO:0004615) breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 GACATCTGCTCGTCAATGTGT 0.532 NA C||| 715 0.142772 0.0091 0.1369 5008 , , NA 16693 0.2381 NA 0.1541 False NA ,,, NA NA NA 2504 0.2178 NA NA NA Esophageal Squamous(154;1308 1842 2827 29799 42829) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008310 CCDS10536.1 16p13 2012-09-06 ENSG00000140650 ENSG00000140650 5373 5.3.1.8 9115 protein-coding gene gene with protein product phosphomannose isomerase 1 601785 CDG1 NA 9140401 Standard NM_000303 NM_000303 NA Approved CDGS, CDG1a, PMI, PMI1 uc002czf.4 O15305 OTTHUMG00000129697 ENST00000565837.1:c.*255C>G chr16.hg19:g.8889152C>G NA A8K672|B7Z6R0|D3DUF3 hg19 0.02 4.692583 GCTxGTC COVERED NOVEL PMM2-019 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000433926.1 0 8.117567 KEEP 0 0 0 27 864 CC 0.999988 0.999982 0 + 6 60 228 0 0 15.504264 106 60 3722 159 ENST00000565837.1 0.053571 0.999995 PMM2 5373 __UNKNOWN__ __UNKNOWN__ 16 8889183 8889183 __UNKNOWN__ 3'UTR SNP C C T rs3760025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8889183C>T ENST00000565837.1 + 0 289 PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron|TMEM186_ENST00000333050.6_3'UTR O15305 PMM2_HUMAN phosphomannomutase 2 NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025) phosphomannomutase activity (GO:0004615) breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 CTGACAGACCCTTCTGCCGCT 0.532 NA T||| 1024 0.204473 0.2375 0.1484 5008 , , NA 17777 0.2381 NA 0.1541 False NA ,,, NA NA NA 2504 0.2168 NA NA NA Esophageal Squamous(154;1308 1842 2827 29799 42829) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008310 CCDS10536.1 16p13 2012-09-06 ENSG00000140650 ENSG00000140650 5373 5.3.1.8 9115 protein-coding gene gene with protein product phosphomannose isomerase 1 601785 CDG1 NA 9140401 Standard NM_000303 NM_000303 NA Approved CDGS, CDG1a, PMI, PMI1 uc002czf.4 O15305 OTTHUMG00000129697 ENST00000565837.1:c.*286C>T chr16.hg19:g.8889183C>T NA A8K672|B7Z6R0|D3DUF3 hg19 0.02 4.179638 ACCxTTC COVERED NOVEL PMM2-019 PUTATIVE basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000433926.1 1 7.52407 KEEP 0 0 0 25 859 CC 0.999931 0.99993 0 + 6 60 226 0 0 15.0121 119 60 4465 172 ENST00000565837.1 0.048 0.999999 PMM2 5373 __UNKNOWN__ __UNKNOWN__ 16 8941778 8941778 __UNKNOWN__ 3'UTR SNP G G C rs11554040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:8941778G>C ENST00000268261.4 + 0 903 PMM2_ENST00000539622.1_3'UTR|RP11-152P23.2_ENST00000567942.1_RNA|PMM2_ENST00000569958.1_3'UTR|PMM2_ENST00000537352.1_3'UTR NM_000303.2 NP_000294.1 O15305 PMM2_HUMAN phosphomannomutase 2 NA NA cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025) phosphomannomutase activity (GO:0004615) breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1) 9 TCACCCACCCGCAGCCTAGGC 0.617 NA g||| 870 0.173722 0.0832 0.1643 5008 , , NA 12174 0.253 NA 0.1839 False NA ,,, NA NA NA 2504 0.2106 NA NA NA Esophageal Squamous(154;1308 1842 2827 29799 42829) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC008310 CCDS10536.1 16p13 2012-09-06 ENSG00000140650 ENSG00000140650 5373 5.3.1.8 9115 protein-coding gene gene with protein product phosphomannose isomerase 1 601785 CDG1 NA 9140401 Standard NM_000303 NM_000303 NA Approved CDGS, CDG1a, PMI, PMI1 uc002czf.4 O15305 OTTHUMG00000129697 ENST00000268261.4:c.*96G>C chr16.hg19:g.8941778G>C NA A8K672|B7Z6R0|D3DUF3 hg19 CCDS10536.1 0.02 2.491266 CCCxCAG COVERED NOVEL PMM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251904.1 1 6.019222 KEEP 0 0 0 20 686 GG 0.999863 0.996096 0 + 4 60 148 0 0 10.111419 64 60 2133 101 ENST00000268261.4 0.058824 0.996233 GRIN2A 2903 __UNKNOWN__ __UNKNOWN__ 16 10205430 10205430 __UNKNOWN__ Intron SNP A A G rs7190342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:10205430A>G ENST00000396573.2 - 3 724 GRIN2A_ENST00000396575.2_Intron|GRIN2A_ENST00000330684.3_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A NA NA directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542) cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021) calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) TGAAGACACCACTGATCTCTT 0.512 NA G||| 1774 0.354233 0.3336 0.268 5008 , , NA 21801 0.4712 NA 0.2922 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10539.1, CCDS45407.1 16p13.2 2012-08-29 ENSG00000183454 ENSG00000183454 2903 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4585 protein-coding gene gene with protein product 138253 NMDAR2A NA 9480759 Standard XM_005255267 NA Approved GluN2A uc002czo.4 Q12879 OTTHUMG00000129721 ENST00000396573.2:c.414+68424T>C chr16.hg19:g.10205430A>G NA O00669|Q17RZ6 hg19 CCDS10539.1 0.02 2.199883 ACCxCTG COVERED NOVEL GRIN2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251930.3 0 5.113737 KEEP 0 0 0 17 501 AA 0.999366 0.994453 0 - 4 60 146 0 0 9.930694 63 60 2213 103 ENST00000396573.2 0.059701 0.995084 ATF7IP2 80063 __UNKNOWN__ __UNKNOWN__ 16 10512565 10512565 __UNKNOWN__ Intron SNP C C T rs12923517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:10512565C>T ENST00000396560.2 + 2 68 ATF7IP2_ENST00000396559.1_Intron|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000561932.1_Intron NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) large_intestine(3) 3 caatgtccaacgacaagtttg 0.383 NA c||| 813 0.16234 0.1793 0.2003 5008 , , NA 19997 0.1577 NA 0.1014 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022730 CCDS10540.1, CCDS58422.1 16p13.2 2008-02-05 ENSG00000166669 ENSG00000166669 80063 20397 protein-coding gene gene with protein product 613645 NA Standard NM_024997 NM_001256160 NA Approved FLJ12668 uc002czu.3 Q5U623 OTTHUMG00000129749 ENST00000396560.2:c.-159-10160C>T chr16.hg19:g.10512565C>T NA B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6 hg19 CCDS10540.1 0.02 -0.140337 CAAxGAC COVERED NOVEL ATF7IP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251961.1 0 2.40762 KEEP 0 0 0 8 268 CC 0.99257 0.259026 0 + 3 60 107 0 0 8.778763 13 60 432 30 ENST00000396560.2 0.1875 0.260965 EMP2 2013 __UNKNOWN__ __UNKNOWN__ 16 10625887 10625887 __UNKNOWN__ 3'UTR SNP C C T rs7195563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:10625887C>T ENST00000359543.3 - 0 1588 RP11-27M24.1_ENST00000535363.1_RNA NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 NA NA cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) integrin binding (GO:0005178) NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 GCATTCACCTCCCCATCTCCA 0.577 NA C||| 2211 0.441494 0.2231 0.5879 5008 , , NA 19699 0.6022 NA 0.5219 False NA ,,, NA NA NA 2504 0.3845 NA NA NA GBM(158;2021 2691 14714 39478) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U52100 CCDS10541.1 16p13.2 2008-08-01 ENSG00000213853 ENSG00000213853 2013 3334 protein-coding gene gene with protein product 602334 NA 8996089, 10331954, 16216233 Standard NM_001424 NM_001424 NA Approved XMP uc002czx.3 P54851 OTTHUMG00000129752 ENST00000359543.3:c.*875G>A chr16.hg19:g.10625887C>T NA B2R7V6|D3DUF8 hg19 CCDS10541.1 0.02 27.060644 CCTxCCC COVERED NOVEL EMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251965.1 0 21.706014 KEEP 0 1 34 84 2948 CC 1 1 0 - 23 60 800 0 0 47.54312 647 60 23890 898 ENST00000359543.3 0.034328 1 TEKT5 146279 __UNKNOWN__ __UNKNOWN__ 16 10775822 10775822 __UNKNOWN__ Intron SNP G G T rs10221070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:10775822G>T ENST00000283025.2 - 4 935 NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GACACGCCAGGGATGGGGAGG 0.542 NA G||| 1620 0.323482 0.475 0.2205 5008 , , NA 20424 0.251 NA 0.2614 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 G 1950,2444 553.3+/-378.7 438,1074,685 171 137 148 -2.2 0 16 dbSNP_119 148 2529,6071 412.8+/-350.9 395,1739,2166 no intron TEKT5 NM_144674.1 833,2813,2851 TT,TG,GG 29.407,44.3787,34.4698 10775822 4479,8515 2197 4300 6497 SO:0001627 intron_variant CCDS10542.1 16p13.13 2014-01-21 ENSG00000153060 ENSG00000153060 146279 26554 protein-coding gene gene with protein product NA Standard NM_144674 NM_144674 NA Approved FLJ32871, CT149 uc002czz.1 Q96M29 OTTHUMG00000129750 ENST00000283025.2:c.863+27C>A chr16.hg19:g.10775822G>T NA A1L3Z3 hg19 CCDS10542.1 0.02 1.79519 CAGxGAT COVERED NOVEL TEKT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251963.1 1 3.912447 KEEP 0 0 0 13 451 GG 0.994391 0.993506 0 - 6 60 196 0 0 13.247768 73 60 2666 106 ENST00000283025.2 0.075949 0.99911 TEKT5 146279 __UNKNOWN__ __UNKNOWN__ 16 10783784 10783784 __UNKNOWN__ Intron SNP C C A rs1344517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:10783784C>A ENST00000283025.2 - 2 720 NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 NA NA cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TGGGCAGAACCAGGAGATGCC 0.537 NA C||| 334 0.0666933 0.0 0.0418 5008 , , NA 18882 0.1756 NA 0.001 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 C 5,4389 9.9+/-24.2 0,5,2192 68 58 61 0 0 16 dbSNP_88 61 19,8581 13.3+/-46.6 0,19,4281 no intron TEKT5 NM_144674.1 0,24,6473 AA,AC,CC 0.2209,0.1138,0.1847 10783784 24,12970 2197 4300 6497 SO:0001627 intron_variant CCDS10542.1 16p13.13 2014-01-21 ENSG00000153060 ENSG00000153060 146279 26554 protein-coding gene gene with protein product NA Standard NM_144674 NM_144674 NA Approved FLJ32871, CT149 uc002czz.1 Q96M29 OTTHUMG00000129750 ENST00000283025.2:c.648+14G>T chr16.hg19:g.10783784C>A NA A1L3Z3 hg19 CCDS10542.1 0.02 6.396792 AACxAGG COVERED NOVEL TEKT5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251963.1 1 3.009662 KEEP 0 0 0 10 346 CC 0.992708 0.992708 0 - 6 60 218 0 0 13.625669 150 60 5455 180 ENST00000283025.2 0.038462 1 CIITA 4261 __UNKNOWN__ __UNKNOWN__ 16 10989219 10989219 __UNKNOWN__ Missense_Mutation SNP C C G rs2229317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:10989219C>G ENST00000324288.8 + 2 266 c.133C>G c.(133-135)Ctg>Gtg p.L45V CIITA_ENST00000381835.5_Missense_Mutation_p.L45V|CIITA_ENST00000537380.1_3'UTR NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 45 NA L -> V (in dbSNP:rs2229317). aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351) cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746) p.L45V(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TGCTGACCCCCTGTGCCTCTA 0.572 NA T FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6 PMBL, Hodgkin Lymphona, c||| 727 0.145168 0.0605 0.3602 5008 , , NA 20257 0.3194 NA 0.008 False NA ,,, NA NA NA 2504 0.0685 NA NA NA Dom yes 16 16p13 4261 class II, major histocompatibility complex, transactivator L 1 Substitution - Missense(1) stomach(1) G VAL/LEU 278,4116 155.9+/-189.0 5,268,1924 95 85 88 133 -4.3 0 16 dbSNP_98 88 119,8481 61.0+/-122.8 0,119,4181 yes missense CIITA NM_000246.3 32 5,387,6105 GG,GC,CC 1.3837,6.3268,3.0553 probably-damaging 45/1131 10989219 397,12597 2197 4300 6497 SO:0001583 missense U18259 CCDS10544.1, CCDS66943.1, CCDS73826.1 16p13 2014-09-17 2005-08-12 2005-08-12 ENSG00000179583 ENSG00000179583 4261 Nucleotide-binding domain and leucine rich repeat containing 7067 protein-coding gene gene with protein product NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing 600005 MHC class II transactivator MHC2TA NA 8402893 Standard NM_000246 NM_000246 NA Approved C2TA, NLRA uc002dai.4 P33076 OTTHUMG00000129753 ENST00000324288.8:c.133C>G chr16.hg19:g.10989219C>G ENSP00000316328:p.Leu45Val NA A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4 hg19 CCDS10544.1 0.02 11.837257 CCCxTGT COVERED 329 0.15064102564102563 27 0.054878048780487805 97 0.26795580110497236 200 0.34965034965034963 5 0.006596306068601583 c 7.523 0.657013 0.14580 0.063268 0.013837 ENSG00000179583 ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380 D;T 0.82619 -1.63;0.72 4.31 -4.35 0.03656 . 1.001520 0.08061 N 0.998189 T 0.00012 0.0000 L 0.55990 1.75 0.80722 P 0.0 D;P;D;D;D;D 0.89917 0.999;0.939;1.0;1.0;1.0;0.999 D;B;D;D;D;D 0.87578 0.998;0.412;0.996;0.996;0.998;0.996 T 0.27123 -1.0083 9 0.56958 D 0.05 . 6.4948 0.22136 0.0:0.47:0.1472:0.3828 rs2229317 45;45;45;45;45;45 F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4 .;.;.;C2TA_HUMAN;.;. V 45 ENSP00000316328:L45V;ENSP00000371257:L45V ENSP00000316328:L45V L + 1 2 CIITA 10896720 0.050000 0.20438 0.004000 0.12327 0.000000 0.00434 -0.942000 0.03921 -0.749000 0.04747 -2.229000 0.00292 CTG NOVEL CIITA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251966.2 1 16.24984 KEEP 0 0 0 54 1889 CC 1 1 0 + 27 60 943 0 0 68.419343 258 60 9692 422 ENST00000324288.8 0.094737 1 CIITA 4261 __UNKNOWN__ __UNKNOWN__ 16 11000579 11000579 __UNKNOWN__ Silent SNP G G A rs199476069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11000579G>A ENST00000324288.8 + 11 1363 c.1230G>A c.(1228-1230)ccG>ccA p.P410P CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 410 NA aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351) cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 ACCGGCGGCCGCGTGAGACAC 0.687 NA T FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6 PMBL, Hodgkin Lymphona, G||| 4 0.000798722 0.0 0.0014 5008 , , NA 15303 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 16 16p13 4261 class II, major histocompatibility complex, transactivator L 0 37 42 40 NA NA 16 NA 11000579 2197 4297 6494 SO:0001819 synonymous_variant U18259 CCDS10544.1, CCDS66943.1, CCDS73826.1 16p13 2014-09-17 2005-08-12 2005-08-12 ENSG00000179583 ENSG00000179583 4261 Nucleotide-binding domain and leucine rich repeat containing 7067 protein-coding gene gene with protein product NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing 600005 MHC class II transactivator MHC2TA NA 8402893 Standard NM_000246 NM_000246 NA Approved C2TA, NLRA uc002dai.4 P33076 OTTHUMG00000129753 ENST00000324288.8:c.1230G>A chr16.hg19:g.11000579G>A NA A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4 hg19 CCDS10544.1 0.02 12.246636 GCCxCGT COVERED NOVEL CIITA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251966.2 1 19.801428 KEEP 0 0 0 66 2262 GG 1 1 0 + 12 60 414 0 0 25.172087 294 60 9653 473 ENST00000324288.8 0.039216 1 CIITA 4261 __UNKNOWN__ __UNKNOWN__ 16 11001421 11001421 __UNKNOWN__ Missense_Mutation SNP C C A rs78108426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11001421C>A ENST00000324288.8 + 11 2205 c.2072C>A c.(2071-2073)gCc>gAc p.A691D CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 691 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. NA aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351) cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746) p.A691D(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TGGGCGATGGCCAAAGGCTTA 0.652 NA T FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6 PMBL, Hodgkin Lymphona, C||| 224 0.0447284 0.0212 0.0159 5008 , , NA 16545 0.127 NA 0.0159 False NA ,,, NA NA NA 2504 0.0419 NA NA NA Dom yes 16 16p13 4261 class II, major histocompatibility complex, transactivator L 1 Substitution - Missense(1) ovary(1) C ASP/ALA 84,4310 71.4+/-109.4 0,84,2113 51 54 53 2072 3.3 0.4 16 dbSNP_131 53 52,8548 32.3+/-84.9 0,52,4248 yes missense CIITA NM_000246.3 126 0,136,6361 AA,AC,CC 0.6047,1.9117,1.0466 possibly-damaging 691/1131 11001421 136,12858 2197 4300 6497 SO:0001583 missense U18259 CCDS10544.1, CCDS66943.1, CCDS73826.1 16p13 2014-09-17 2005-08-12 2005-08-12 ENSG00000179583 ENSG00000179583 4261 Nucleotide-binding domain and leucine rich repeat containing 7067 protein-coding gene gene with protein product NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing 600005 MHC class II transactivator MHC2TA NA 8402893 Standard NM_000246 NM_000246 NA Approved C2TA, NLRA uc002dai.4 P33076 OTTHUMG00000129753 ENST00000324288.8:c.2072C>A chr16.hg19:g.11001421C>A ENSP00000316328:p.Ala691Asp NA A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4 hg19 CCDS10544.1 0.02 14.2379 TGGxCAA COVERED 99 0.04532967032967033 11 0.022357723577235773 6 0.016574585635359115 72 0.1258741258741259 10 0.013192612137203167 C 10.34 1.322464 0.23994 0.019117 0.006047 ENSG00000179583 ENST00000324288;ENST00000388910 T 0.73363 -0.74 5.3 3.26 0.37387 NACHT nucleoside triphosphatase (1); 0.502966 0.18160 N 0.149803 T 0.01800 0.0057 M 0.66939 2.045 0.58432 P 1.0000000000287557E-6 B;B;B;D 0.55800 0.105;0.049;0.168;0.973 B;B;B;P 0.47346 0.05;0.027;0.108;0.544 T 0.46261 -0.9204 9 0.41790 T 0.15 . 4.735 0.12984 0.1496:0.621:0.1454:0.084 . 691;691;643;691 A0N0N9;P33076;F2Z2G8;Q96KL4 .;C2TA_HUMAN;.;. D 691;643 ENSP00000316328:A691D ENSP00000316328:A691D A + 2 0 CIITA 10908922 0.502000 0.26107 0.376000 0.26042 0.123000 0.20343 1.023000 0.30065 1.231000 0.43661 0.655000 0.94253 GCC NOVEL CIITA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251966.2 2 23.77762 KEEP 0 0 0 79 2816 CC 1 1 0 + 13 60 466 0 0 28.306032 361 60 13266 559 ENST00000324288.8 0.034759 1 CIITA 4261 __UNKNOWN__ __UNKNOWN__ 16 11012234 11012234 __UNKNOWN__ Intron SNP T T C rs45509299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11012234T>C ENST00000324288.8 + 16 3195 CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator NA NA aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351) cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 AGAACTCTCCTTGAGGTCAAA 0.542 NA T FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6 PMBL, Hodgkin Lymphona, OREG0023606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 336 0.0670927 0.0091 0.0836 5008 , , NA 20690 0.1885 NA 0.0368 False NA ,,, NA NA NA 2504 0.0399 NA NA NA Dom yes 16 16p13 4261 class II, major histocompatibility complex, transactivator L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U18259 CCDS10544.1, CCDS66943.1, CCDS73826.1 16p13 2014-09-17 2005-08-12 2005-08-12 ENSG00000179583 ENSG00000179583 4261 Nucleotide-binding domain and leucine rich repeat containing 7067 protein-coding gene gene with protein product NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing 600005 MHC class II transactivator MHC2TA NA 8402893 Standard NM_000246 NM_000246 NA Approved C2TA, NLRA uc002dai.4 P33076 OTTHUMG00000129753 ENST00000324288.8:c.3063-63T>C chr16.hg19:g.11012234T>C 669 A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4 hg19 CCDS10544.1 0.02 9.390871 TCCxTGA COVERED NOVEL CIITA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251966.2 1 30.991983 KEEP 0 0 0 103 3221 TT 1 1 0 + 12 60 441 0 0 29.805932 200 60 7332 380 ENST00000324288.8 0.056604 1 CIITA 4261 __UNKNOWN__ __UNKNOWN__ 16 11016045 11016045 __UNKNOWN__ Silent SNP C C T rs2229322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11016045C>T ENST00000324288.8 + 17 3304 c.3171C>T c.(3169-3171)tgC>tgT p.C1057C CIITA_ENST00000381835.5_Silent_p.C473C NM_000246.3 NP_000237 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 1057 NA aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351) cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605) activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746) p.C1057C(1) central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 ACTGCATCTGCGACGTGGGAG 0.612 NA T FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6 PMBL, Hodgkin Lymphona, C||| 525 0.104832 0.0787 0.1081 5008 , , NA 17922 0.1865 NA 0.0994 False NA ,,, NA NA NA 2504 0.0593 NA NA NA Dom yes 16 16p13 4261 class II, major histocompatibility complex, transactivator L 1 Substitution - coding silent(1) stomach(1) C 342,4052 179.7+/-208.2 8,326,1863 150 143 145 3171 -6.7 0.3 16 dbSNP_98 145 932,7668 205.1+/-247.6 49,834,3417 no coding-synonymous CIITA NM_000246.3 57,1160,5280 TT,TC,CC 10.8372,7.7833,9.8045 1057/1131 11016045 1274,11720 2197 4300 6497 SO:0001819 synonymous_variant U18259 CCDS10544.1, CCDS66943.1, CCDS73826.1 16p13 2014-09-17 2005-08-12 2005-08-12 ENSG00000179583 ENSG00000179583 4261 Nucleotide-binding domain and leucine rich repeat containing 7067 protein-coding gene gene with protein product NLR family, acid domain containing, nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing 600005 MHC class II transactivator MHC2TA NA 8402893 Standard NM_000246 NM_000246 NA Approved C2TA, NLRA uc002dai.4 P33076 OTTHUMG00000129753 ENST00000324288.8:c.3171C>T chr16.hg19:g.11016045C>T NA A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4 hg19 CCDS10544.1 0.02 10.179255 CTGxGAC COVERED NOVEL CIITA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000251966.2 1 38.223129 KEEP 0 0 0 127 4448 CC 1 1 0 + 8 60 289 0 0 16.955178 272 60 9463 532 ENST00000324288.8 0.028571 1 CLEC16A 23274 __UNKNOWN__ __UNKNOWN__ 16 11056217 11056217 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11056217T>G ENST00000409790.1 + 3 439 CLEC16A_ENST00000409552.3_Intron NM_015226.2 NP_056041.1 C-type lectin domain family 16, member A NA NA breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGGAGAGGGGTGAATCTAATA 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002348 CCDS45409.1, CCDS58423.1 16p13.13 2010-04-27 2007-07-17 2007-07-17 ENSG00000038532 ENSG00000038532 23274 C-type lectin domain containing 29013 protein-coding gene gene with protein product 611303 KIAA0350 KIAA0350 NA 9205841, 17632545 Standard NM_015226 NM_015226 NA Approved Gop-1 uc002dao.3 Q2KHT3 OTTHUMG00000152915 ENST00000409790.1:c.210-95T>G chr16.hg19:g.11056217T>G NA hg19 CCDS45409.1 0.02 1.167733 GGGxGAA COVERED NOVEL CLEC16A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328540.2 2 3.035723 KEEP 0 1 5 12 334 TT 0.994391 0.993952 0 + 10 60 198 0 0 11.716255 73 60 2196 137 ENST00000409790.1 0.120482 0.999559 CLEC16A 23274 __UNKNOWN__ __UNKNOWN__ 16 11121056 11121056 __UNKNOWN__ Intron SNP A A C rs7198089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11121056A>C ENST00000409790.1 + 13 1767 CLEC16A_ENST00000409552.3_Intron|CLEC16A_ENST00000465491.1_Intron NM_015226.2 NP_056041.1 C-type lectin domain family 16, member A NA NA p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CTACATGATTACTGGCAGCAG 0.468 NA C||| 943 0.188299 0.3442 0.1124 5008 , , NA 19784 0.131 NA 0.1412 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 1 Whole gene deletion(1) haematopoietic_and_lymphoid_tissue(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002348 CCDS45409.1, CCDS58423.1 16p13.13 2010-04-27 2007-07-17 2007-07-17 ENSG00000038532 ENSG00000038532 23274 C-type lectin domain containing 29013 protein-coding gene gene with protein product 611303 KIAA0350 KIAA0350 NA 9205841, 17632545 Standard NM_015226 NM_015226 NA Approved Gop-1 uc002dao.3 Q2KHT3 OTTHUMG00000152915 ENST00000409790.1:c.1537+2278A>C chr16.hg19:g.11121056A>C NA hg19 CCDS45409.1 0.02 2.282261 ATTxCTG COVERED NOVEL CLEC16A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328540.2 0 5.717205 KEEP 0 0 0 19 591 AA 0.99986 0.996093 0 + 5 60 193 0 0 13.897201 64 60 2271 102 ENST00000409790.1 0.072464 0.996233 CLEC16A 23274 __UNKNOWN__ __UNKNOWN__ 16 11137978 11137978 __UNKNOWN__ Intron SNP A A G rs8052325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11137978A>G ENST00000409790.1 + 16 2045 CLEC16A_ENST00000409552.3_Intron|CLEC16A_ENST00000465491.1_Intron NM_015226.2 NP_056041.1 C-type lectin domain family 16, member A NA NA p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TATTGTAGAAACAGAAGTGTG 0.368 NA G||| 1247 0.249002 0.5772 0.1239 5008 , , NA 19613 0.128 NA 0.1352 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 1 Whole gene deletion(1) haematopoietic_and_lymphoid_tissue(1) G 1931,2063 486,959,552 77 73 74 -4.6 0 16 dbSNP_116 74 1059,7263 59,941,3161 no intron CLEC16A NM_015226.2 545,1900,3713 GG,GA,AA 12.7253,48.3475,24.2774 11137978 2990,9326 1997 4161 6158 SO:0001627 intron_variant AB002348 CCDS45409.1, CCDS58423.1 16p13.13 2010-04-27 2007-07-17 2007-07-17 ENSG00000038532 ENSG00000038532 23274 C-type lectin domain containing 29013 protein-coding gene gene with protein product 611303 KIAA0350 KIAA0350 NA 9205841, 17632545 Standard NM_015226 NM_015226 NA Approved Gop-1 uc002dao.3 Q2KHT3 OTTHUMG00000152915 ENST00000409790.1:c.1815+49A>G chr16.hg19:g.11137978A>G NA hg19 CCDS45409.1 0.02 14.118092 GAAxCAG COVERED NOVEL CLEC16A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328540.2 2 21.36209 KEEP 0 0 0 71 2202 AA 1 1 0 + 26 60 988 0 0 72.084493 293 60 10411 457 ENST00000409790.1 0.081505 1 CLEC16A 23274 __UNKNOWN__ __UNKNOWN__ 16 11202738 11202738 __UNKNOWN__ Intron SNP C C T rs12923054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11202738C>T ENST00000409790.1 + 20 2346 CLEC16A_ENST00000409552.3_Intron|CLEC16A_ENST00000465491.1_Intron NM_015226.2 NP_056041.1 C-type lectin domain family 16, member A NA NA p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 gaggccgaggcgggcggatca 0.552 NA C||| 1381 0.275759 0.2292 0.232 5008 , , NA 16014 0.2123 NA 0.3231 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 1 Whole gene deletion(1) haematopoietic_and_lymphoid_tissue(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002348 CCDS45409.1, CCDS58423.1 16p13.13 2010-04-27 2007-07-17 2007-07-17 ENSG00000038532 ENSG00000038532 23274 C-type lectin domain containing 29013 protein-coding gene gene with protein product 611303 KIAA0350 KIAA0350 NA 9205841, 17632545 Standard NM_015226 NM_015226 NA Approved Gop-1 uc002dao.3 Q2KHT3 OTTHUMG00000152915 ENST00000409790.1:c.2117-11734C>T chr16.hg19:g.11202738C>T NA hg19 CCDS45409.1 0.02 -0.059453 AGGxGGG UNCOVERED NOVEL CLEC16A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328540.2 1 3.611831 KEEP 0 0 0 12 433 CC 0.993634 0.043508 0 + 4 60 110 0 0 10.860866 3 60 54 29 ENST00000409790.1 0.571429 0.043787 CTD-3088G3.8 0 __UNKNOWN__ __UNKNOWN__ 16 11537471 11537471 __UNKNOWN__ Intron SNP C C T rs12925081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11537471C>T ENST00000344649.3 - 22 3144 NA NA NA GGAAGAAGACCCGGATGGGGT 0.463 NA C||| 1258 0.251198 0.0189 0.2767 5008 , , NA 15842 0.1905 NA 0.4891 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000344649.3:c.1612-155G>A chr16.hg19:g.11537471C>T NA hg19 0.02 6.128962 GACxCGG COVERED NOVEL CTD-3088G3.8-201 KNOWN basic|appris_principal protein_coding NA protein_coding 2 8.728343 KEEP 0 0 0 29 1017 CC 0.999997 0.999997 0 - 8 60 286 0 0 18.310133 167 60 6027 233 ENST00000344649.3 0.045714 1 CTD-3088G3.8 0 __UNKNOWN__ __UNKNOWN__ 16 11554867 11554867 __UNKNOWN__ Missense_Mutation SNP C C T rs8050530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11554867C>T ENST00000344649.3 - 13 1831 c.299G>A c.(298-300)cGg>cAg p.R100Q NA NA NA GAGCTGGCCCCGTTGCTGCAG 0.677 NA C||| 1385 0.276558 0.1717 0.3156 5008 , , NA 17687 0.1052 NA 0.4811 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000344649.3:c.299G>A chr16.hg19:g.11554867C>T ENSP00000343456:p.Arg100Gln NA hg19 0.02 1.716433 CCCxGTT COVERED 646 0.2957875457875458 87 0.17682926829268292 122 0.3370165745856354 54 0.0944055944055944 383 0.5052770448548812 C 5.651 0.304798 0.10678 . . ENSG00000188897 ENST00000344649 T 0.42131 0.98 3.59 -2.51 0.06365 . 0.689694 0.12263 N 0.484540 T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.45205 -0.9277 6 0.33141 T 0.24 -5.0361 4.2029 0.10475 0.1515:0.4602:0.0:0.3882 rs8050530;rs60812495;rs8050530 . . . Q 100 ENSP00000343456:R100Q ENSP00000343456:R100Q R - 2 0 AC099489.1 11462368 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.236000 0.09003 -1.115000 0.02973 -0.439000 0.05793 CGG NOVEL CTD-3088G3.8-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 3.536911 KEEP 0 1 29 22 682 CC 0.999892 0.99966 0 - 5 60 148 0 0 8.875176 83 60 2894 131 ENST00000344649.3 0.056818 0.999768 SNN 8303 __UNKNOWN__ __UNKNOWN__ 16 11770304 11770304 __UNKNOWN__ 3'UTR SNP G G C rs2270370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11770304G>C ENST00000329565.5 + 0 601 NM_003498.5 NP_003489.1 O75324 SNN_HUMAN stannin NA NA response to abiotic stimulus (GO:0009628)|response to stress (GO:0006950) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) endometrium(1) 1 TGGCCTCTGCGGGCTTCGTCA 0.652 NA G||| 316 0.063099 0.0 0.0418 5008 , , NA 18574 0.1786 NA 0.0139 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF030196 CCDS10549.1 16p13 2008-02-05 ENSG00000184602 ENSG00000184602 8303 11149 protein-coding gene gene with protein product 603032 NA 9657854 Standard NM_003498 NM_003498 NA Approved uc002dbf.3 O75324 OTTHUMG00000090535 ENST00000329565.5:c.*122G>C chr16.hg19:g.11770304G>C NA D3DUG4|Q6FGI0 hg19 CCDS10549.1 0.02 11.612595 TGCxGGC COVERED NOVEL SNN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207059.1 0 30.697009 KEEP 0 0 0 102 3465 GG 1 1 0 + 11 60 400 0 0 25.593698 243 60 8368 448 ENST00000329565.5 0.043307 1 ZC3H7A 29066 __UNKNOWN__ __UNKNOWN__ 16 11844655 11844655 __UNKNOWN__ 3'UTR SNP C C A rs7090 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:11844655C>A ENST00000396516.2 - 0 3631 ZC3H7A_ENST00000575984.1_3'UTR|ZC3H7A_ENST00000355758.4_3'UTR Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A NA NA nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CAGAAAAATACCCCATTTAAC 0.264 NA C||| 851 0.169928 0.0635 0.0807 5008 , , NA 18425 0.2649 NA 0.1233 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF161540 CCDS10550.1 16p13-p12 2013-01-11 2005-06-02 2005-06-08 ENSG00000122299 ENSG00000122299 29066 Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing 30959 protein-coding gene gene with protein product zinc finger CCCH-type domain containing 7, zinc finger CCCH-type containing 7 ZC3HDC7, ZC3H7 NA 11042152 Standard NM_014153 NM_014153 NA Approved HSPC055, FLJ20318 uc002dbl.3 Q8IWR0 OTTHUMG00000129825 ENST00000396516.2:c.*518G>T chr16.hg19:g.11844655C>A NA D3DUG5|Q9NPE9 hg19 CCDS10550.1 0.02 4.038818 ATAxCCC COVERED NOVEL ZC3H7A-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437066.1 0 7.825379 KEEP 0 0 0 26 922 CC 0.999957 0.999957 0 - 7 60 252 0 0 16.452354 134 60 4924 179 ENST00000396516.2 0.049645 1 SNX29 92017 __UNKNOWN__ __UNKNOWN__ 16 12155537 12155537 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:12155537A>G ENST00000566228.1 + 9 1312 SNX29_ENST00000306030.3_Intron|SNX29_ENST00000323433.4_Intron NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 NA NA extracellular vesicular exosome (GO:0070062) phosphatidylinositol binding (GO:0035091) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TTCCTCCAATAAGAGCTTTGG 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 29 30 30 NA NA 16 NA 12155537 2073 4223 6296 SO:0001627 intron_variant AK074072 CCDS10553.2 16p13.13-p13.12 2011-08-16 ENSG00000048471 ENSG00000048471 92017 Sorting nexins 30542 protein-coding gene gene with protein product RUN domain containing 2A RUNDC2A NA 16782399 Standard XM_005255682 NA Approved FLJ12363 uc002dby.5 Q8TEQ0 ENST00000566228.1:c.1243+34A>G chr16.hg19:g.12155537A>G NA B5MDW2|Q8N2X2|Q9HA26 hg19 CCDS10553.2 0.02 18.076392 AATxAGA COVERED NOVEL SNX29-005 PUTATIVE not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422622.1 1 20.156271 KEEP 0 0 0 67 1988 AA 1 1 0 + 12 60 458 1 0 28.102198 390 60 13814 588 ENST00000566228.1 0.029851 1 SNX29 92017 __UNKNOWN__ __UNKNOWN__ 16 12162969 12162969 __UNKNOWN__ Silent SNP A A G rs1641843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:12162969A>G ENST00000566228.1 + 10 1368 c.1299A>G c.(1297-1299)ccA>ccG p.P433P SNX29_ENST00000306030.3_Silent_p.P48P|SNX29_ENST00000323433.4_Silent_p.P48P NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 433 NA extracellular vesicular exosome (GO:0070062) phosphatidylinositol binding (GO:0035091) p.P48P(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 ACGTTCTCCCAGATCCTGGAC 0.463 NA g||| 3050 0.609026 0.8116 0.5014 5008 , , NA 18048 0.5258 NA 0.4632 False NA ,,, NA NA NA 2504 0.6472 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) 2767,971 1036,695,138 89 97 95 144 -10.7 0 16 dbSNP_89 95 3365,4857 689,1987,1435 no coding-synonymous SNX29 NM_001080530.2 1725,2682,1573 GG,GA,AA 40.9268,25.9765,48.7291 48/429 12162969 6132,5828 1869 4111 5980 SO:0001819 synonymous_variant AK074072 CCDS10553.2 16p13.13-p13.12 2011-08-16 ENSG00000048471 ENSG00000048471 92017 Sorting nexins 30542 protein-coding gene gene with protein product RUN domain containing 2A RUNDC2A NA 16782399 Standard XM_005255682 NA Approved FLJ12363 uc002dby.5 Q8TEQ0 ENST00000566228.1:c.1299A>G chr16.hg19:g.12162969A>G NA B5MDW2|Q8N2X2|Q9HA26 hg19 CCDS10553.2 0.02 10.312938 CCCxGAT COVERED NOVEL SNX29-005 PUTATIVE not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422622.1 0 18.655027 KEEP 0 0 0 62 1919 AA 1 1 0 + 11 60 370 0 0 22.622295 243 60 9157 392 ENST00000566228.1 0.043307 1 SNX29 92017 __UNKNOWN__ __UNKNOWN__ 16 12229416 12229416 __UNKNOWN__ Intron SNP G G A rs74790544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:12229416G>A ENST00000566228.1 + 13 1664 SNX29_ENST00000306030.3_Intron|SNX29_ENST00000323433.4_Intron NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 NA NA extracellular vesicular exosome (GO:0070062) phosphatidylinositol binding (GO:0035091) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 agctatctttgctattttgtg 0.463 NA -||| 335 0.066893 0.0756 0.0144 5008 , , NA 22330 0.1736 NA 0.0219 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074072 CCDS10553.2 16p13.13-p13.12 2011-08-16 ENSG00000048471 ENSG00000048471 92017 Sorting nexins 30542 protein-coding gene gene with protein product RUN domain containing 2A RUNDC2A NA 16782399 Standard XM_005255682 NA Approved FLJ12363 uc002dby.5 Q8TEQ0 ENST00000566228.1:c.1595+5801G>A chr16.hg19:g.12229416G>A NA B5MDW2|Q8N2X2|Q9HA26 hg19 CCDS10553.2 0.02 6.311466 TTTxCTA COVERED NOVEL SNX29-005 PUTATIVE not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422622.1 1 9.02895 KEEP 0 0 0 30 1050 GG 0.999997 0.999997 0 + 6 60 221 0 0 13.588838 171 60 6479 257 ENST00000566228.1 0.033898 1 SHISA9 729993 __UNKNOWN__ __UNKNOWN__ 16 13329469 13329469 __UNKNOWN__ 3'UTR SNP G G A rs12598852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:13329469G>A ENST00000424107.3 + 0 1923 SHISA9_ENST00000558583.1_3'UTR B4DS77 SHSA9_HUMAN shisa family member 9 NA NA regulation of short-term neuronal synaptic plasticity (GO:0048172) cell junction (GO:0030054)|dendritic spine membrane (GO:0032591)|ionotropic glutamate receptor complex (GO:0008328)|synapse (GO:0045202) breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 AGCTGAGAAAGACCGAAGCGT 0.527 NA G||| 540 0.107827 0.0113 0.0562 5008 , , NA 16852 0.3194 NA 0.0825 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS45417.1, CCDS45418.1, CCDS45417.2, CCDS45418.2 16p13.12 2013-07-31 2013-07-31 ENSG00000237515 ENSG00000237515 729993 Shisa homologs 37231 protein-coding gene gene with protein product 613346 shisa homolog 9 (Xenopus laevis) NA Standard NM_001145204 NM_001145205 NA Approved uc010uyy.2 B4DS77 OTTHUMG00000154258 ENST00000424107.3:c.*203G>A chr16.hg19:g.13329469G>A NA C9J314|C9JCE9 hg19 CCDS45417.2 0.02 8.356317 AAAxACC COVERED NOVEL SHISA9-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000334564.5 0 6.019245 KEEP 0 0 0 20 682 GG 0.999863 0.999863 0 + 12 60 424 0 0 27.470039 227 60 8203 300 ENST00000424107.3 0.050209 1 MKL2 57496 __UNKNOWN__ __UNKNOWN__ 16 14295168 14295168 __UNKNOWN__ Intron SNP A A G rs377306015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:14295168A>G ENST00000574045.1 + 4 309 MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_Intron|MKL2_ENST00000573051.1_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000318282.5_Intron Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 NA NA blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGACCTTTGCATTGTGATCCA 0.368 NA A||| 8 0.00159744 0.0 0.0 5008 , , NA 18649 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033069 CCDS32391.1 16p13.12 2012-11-29 ENSG00000186260 ENSG00000186260 57496 29819 protein-coding gene gene with protein product 609463 NA 10574462 Standard NM_014048 NM_014048 NA Approved MRTF-B, FLJ31823 uc002dcg.3 Q9ULH7 OTTHUMG00000177379 ENST00000574045.1:c.155-8932A>G chr16.hg19:g.14295168A>G NA A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226 hg19 CCDS32391.1 0.02 21.260683 TGCxTTG COVERED NOVEL MKL2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000436622.1 6 16.547804 KEEP 0 0 0 55 1673 AA 1 1 0 + 15 60 547 0 0 32.133326 523 60 19134 638 ENST00000574045.1 0.027881 1 MKL2 57496 __UNKNOWN__ __UNKNOWN__ 16 14304175 14304175 __UNKNOWN__ Intron SNP A A C rs226779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:14304175A>C ENST00000574045.1 + 4 375 MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_Intron|MKL2_ENST00000573051.1_Intron|MKL2_ENST00000341243.5_Intron|MKL2_ENST00000318282.5_Intron Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 NA NA blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) p.?(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGTAAGATTTATACCATCACT 0.463 NA A||| 696 0.138978 0.0628 0.062 5008 , , NA 18210 0.2946 NA 0.0586 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 1 Unknown(1) stomach(1) A 229,4165 136.9+/-172.8 3,223,1971 170 124 140 -2.7 0 16 dbSNP_79 140 287,8313 107.0+/-167.8 3,281,4016 no intron MKL2 NM_014048.3 6,504,5987 CC,CA,AA 3.3372,5.2117,3.9711 14304175 516,12478 2197 4300 6497 SO:0001627 intron_variant AB033069 CCDS32391.1 16p13.12 2012-11-29 ENSG00000186260 ENSG00000186260 57496 29819 protein-coding gene gene with protein product 609463 NA 10574462 Standard NM_014048 NM_014048 NA Approved MRTF-B, FLJ31823 uc002dcg.3 Q9ULH7 OTTHUMG00000177379 ENST00000574045.1:c.220+10A>C chr16.hg19:g.14304175A>C NA A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226 hg19 CCDS32391.1 0.02 2.115428 TTTxTAC COVERED NOVEL MKL2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000436622.1 1 5.688991 KEEP 0 0 0 19 537 AA 0.99986 0.999628 0 + 5 60 191 0 0 13.151323 83 60 3029 129 ENST00000574045.1 0.056818 0.999768 PARN 5073 __UNKNOWN__ __UNKNOWN__ 16 14580894 14580894 __UNKNOWN__ Intron SNP C C T rs368732421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:14580894C>T ENST00000437198.2 - 22 1622 PARN_ENST00000420015.2_Intron|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Intron NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease NA NA female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901) cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 CAGCACGGTCCGGGGTGGTCC 0.597 NA -||| 6 0.00119808 0.0045 0.0 5008 , , NA 85513 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ005698 CCDS45419.1, CCDS45420.1, CCDS58425.1 16p13 2014-08-08 2011-07-07 ENSG00000140694 ENSG00000140694 5073 3.1.13.4 8609 protein-coding gene gene with protein product deadenylation nuclease 604212 poly(A)-specific ribonuclease (deadenylation nuclease) NA 10640832 Standard NM_002582 NM_002582 NA Approved DAN uc010uzd.2 O95453 OTTHUMG00000173199 ENST00000437198.2:c.1481-4210G>A chr16.hg19:g.14580894C>T NA B2RCB3|B4DDG8|B4DWR4|B4E1H6 hg19 CCDS45419.1 0.02 10.663453 GTCxGGG COVERED NOVEL PARN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422383.1 130 14.446082 KEEP 1 0 0 48 1625 CC 1 1 0 - 9 60 321 0 0 19.773299 229 60 7904 388 ENST00000437198.2 0.037815 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15082021 15082021 __UNKNOWN__ Intron SNP G G A rs55973981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15082021G>A ENST00000396410.4 + 2 118 PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CACAAAGGGCGGGTGCTTCCA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.22-9589G>A chr16.hg19:g.15082021G>A NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 8.562176 GGCxGGT COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 0 5.349713 KEEP 0 1 32 29 945 GG 0.999997 0.999997 0 + 10 60 357 0 0 22.682269 217 60 7035 277 ENST00000396410.4 0.044053 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15082865 15082865 __UNKNOWN__ Intron SNP C C T rs4985167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15082865C>T ENST00000396410.4 + 2 118 PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGTCTCGCTCCCTGTGGCTC 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.22-8745C>T chr16.hg19:g.15082865C>T NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 10.340464 GCTxCCT COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 3 24.679387 KEEP 1 0 0 82 2851 CC 1 1 0 + 14 60 497 0 0 32.165872 270 60 10035 440 ENST00000396410.4 0.049296 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15091601 15091601 __UNKNOWN__ Intron SNP G G C rs28545123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15091601G>C ENST00000396410.4 + 2 118 PDXDC1_ENST00000450288.2_Intron|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Intron|PDXDC1_ENST00000569715.1_Intron|PDXDC1_ENST00000325823.7_Intron|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) p.?(1) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTTTTTTTTTGTTTCCCAGAT 0.378 NA .||| 1392 0.277955 0.1112 0.4265 5008 , , NA 23650 0.3829 NA 0.2167 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 1 Unknown(1) stomach(1) 31 33 32 NA NA 16 NA 15091601 2197 4300 6497 SO:0001627 intron_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.22-9G>C chr16.hg19:g.15091601G>C NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 6.647132 TTTxTTT COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 0 14.121435 KEEP 1 0 0 47 1475 GG 1 1 0 + 12 60 411 0 0 28.281779 150 60 4539 274 ENST00000396410.4 0.074074 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15098047 15098047 __UNKNOWN__ Missense_Mutation SNP C C G rs11549900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15098047C>G ENST00000396410.4 + 5 343 c.246C>G c.(244-246)atC>atG p.I82M PDXDC1_ENST00000450288.2_Missense_Mutation_p.I54M|PDXDC1_ENST00000447912.2_Intron|PDXDC1_ENST00000563679.1_Missense_Mutation_p.I100M|PDXDC1_ENST00000569715.1_Missense_Mutation_p.I55M|PDXDC1_ENST00000325823.7_Missense_Mutation_p.I67M|PDXDC1_ENST00000455313.2_Missense_Mutation_p.I82M|PDXDC1_ENST00000535621.2_Missense_Mutation_p.I82M NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 82 NA I -> M (in Ref. 2; BAG61167 and 5; AAZ14099). {ECO:0000305}. carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TTAACAGAATCCAAAATATTG 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 107 119 115 NA NA 16 NA 15098047 2197 4300 6497 SO:0001583 missense AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.246C>G chr16.hg19:g.15098047C>G ENSP00000379691:p.Ile82Met NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 11.248955 AATxCAA COVERED 653 0.298992673992674 66 0.13414634146341464 138 0.3812154696132597 251 0.4388111888111888 198 0.2612137203166227 C 6.258 0.415784 0.11870 . . ENSG00000179889 ENST00000325823;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000455313 T;T;T;T;T 0.37915 1.17;1.17;1.17;2.07;1.17 5.72 2.76 0.32466 Pyridoxal phosphate-dependent transferase, major domain (1); 0.318283 0.36555 N 0.002527 T 0.00012 0.0000 N 0.08118 0 0.09310 P 1.0 B;B;B;B 0.20780 0.048;0.005;0.048;0.005 B;B;B;B 0.19391 0.02;0.005;0.012;0.025 T 0.47142 -0.9140 9 0.40728 T 0.16 . 9.1032 0.36681 0.0:0.6898:0.0:0.3102 rs11549900 54;82;82;82 E7EPL4;Q86XE2;Q6P996;Q6P996-2 .;.;PDXD1_HUMAN;. M 67;82;82;54;82 ENSP00000322807:I67M;ENSP00000437835:I82M;ENSP00000379691:I82M;ENSP00000391147:I54M;ENSP00000406703:I82M ENSP00000322807:I67M I + 3 3 PDXDC1 15005548 1.000000 0.71417 1.000000 0.80357 0.351000 0.29236 1.821000 0.39041 0.455000 0.26910 -0.142000 0.14014 ATC NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 1 13.541793 KEEP 3 0 0 45 1497 CC 1 1 0 + 12 60 455 0 0 30.091898 249 60 9311 352 ENST00000396410.4 0.045977 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15111218 15111218 __UNKNOWN__ Missense_Mutation SNP C C T rs4985162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15111218C>T ENST00000396410.4 + 11 999 c.902C>T c.(901-903)cCg>cTg p.P301L PDXDC1_ENST00000450288.2_Missense_Mutation_p.P273L|PDXDC1_ENST00000447912.2_Missense_Mutation_p.P210L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.P319L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.P274L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.P286L|PDXDC1_ENST00000455313.2_Missense_Mutation_p.P278L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.P301L NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 301 NA P -> L (in dbSNP:rs4985162). {ECO:0000269|PubMed:14702039}. carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ACTCCTGGCCCGTGGCTGGGT 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 C LEU/PRO 639,3755 23,593,1581 86 91 89 902 4.5 0.5 16 dbSNP_111 89 1574,7020 29,1516,2752 no missense PDXDC1 NM_015027.2 98 52,2109,4333 TT,TC,CC 18.3151,14.5426,17.0388 benign 301/789 15111218 2213,10775 2197 4297 6494 SO:0001583 missense AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.902C>T chr16.hg19:g.15111218C>T ENSP00000379691:p.Pro301Leu NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 8.376192 GCCxGTG COVERED 583 0.26694139194139194 58 0.11788617886178862 127 0.35082872928176795 246 0.43006993006993005 152 0.20052770448548812 C 13.70 2.316841 0.40996 0.145426 0.183151 ENSG00000179889 ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313 T;T;T;T;T;T 0.37584 1.19;1.19;1.19;1.19;1.19;1.19 5.45 4.49 0.54785 Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.261616 0.44285 N 0.000468 T 0.00012 0.0000 N 0.19112 0.55 0.22479 P 0.999063953 B;B;B;B;B 0.15930 0.006;0.015;0.006;0.006;0.0 B;B;B;B;B 0.16722 0.006;0.016;0.01;0.01;0.001 T 0.46317 -0.9200 9 0.25106 T 0.35 -12.0274 12.4403 0.55621 0.0:0.9177:0.0:0.0823 rs4985162 273;210;301;301;278 E7EPL4;E7EMH5;Q86XE2;Q6P996;Q6P996-2 .;.;.;PDXD1_HUMAN;. L 286;210;301;301;273;7;278 ENSP00000322807:P286L;ENSP00000400310:P210L;ENSP00000437835:P301L;ENSP00000379691:P301L;ENSP00000391147:P273L;ENSP00000406703:P278L ENSP00000322807:P286L P + 2 0 PDXDC1 15018719 0.931000 0.31567 0.484000 0.27391 0.957000 0.61999 3.082000 0.50128 1.260000 0.44134 0.542000 0.68232 CCG NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 3 21.434986 KEEP 42 2 59 92 3151 CC 1 1 0 + 8 60 292 0 0 17.68159 240 60 8397 466 ENST00000396410.4 0.032258 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15129970 15129970 __UNKNOWN__ Silent SNP A A G rs7200543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15129970A>G ENST00000396410.4 + 23 2302 c.2205A>G c.(2203-2205)ctA>ctG p.L735L PDXDC1_ENST00000450288.2_Silent_p.L707L|PDXDC1_ENST00000447912.2_Silent_p.L644L|PDXDC1_ENST00000563679.1_Silent_p.L753L|PDXDC1_ENST00000569715.1_Silent_p.L708L|PDXDC1_ENST00000325823.7_Silent_p.L720L|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 735 NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGAGCGCCTATCCAGTGGGC 0.582 NA G||| 1728 0.345048 0.1846 0.5331 5008 , , NA 18589 0.371 NA 0.3062 False NA ,,, NA NA NA 2504 0.4417 NA NA NA NA 0 G 989,3405 730.4+/-410.2 119,751,1327 120 120 120 http://www.ncbi.nlm.nih.gov/pubmed?term 2205 4.7 0.1 16 dbSNP_116 120 2587,6013 689.7+/-404.4 359,1869,2072 yes coding-synonymous PDXDC1 NM_015027.2 478,2620,3399 GG,GA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 30.0814,22.508,27.5204 735/789 15129970 3576,9418 2197 4300 6497 SO:0001819 synonymous_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.2205A>G chr16.hg19:g.15129970A>G NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 12.283779 CCTxTCC COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 1 15.943597 KEEP 0 0 0 53 1585 AA 1 1 0 + 11 60 428 0 0 28.328992 246 60 8637 350 ENST00000396410.4 0.042802 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15130351 15130351 __UNKNOWN__ 3'UTR SNP G G C rs1741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15130351G>C ENST00000396410.4 + 0 2683 PDXDC1_ENST00000450288.2_3'UTR|PDXDC1_ENST00000563679.1_3'UTR|PDXDC1_ENST00000569715.1_3'UTR|PDXDC1_ENST00000325823.7_3'UTR|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTCCTACTACGACTTTTCCCT 0.398 NA C||| 1683 0.336062 0.1604 0.5317 5008 , , NA 21796 0.371 NA 0.3022 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.*219G>C chr16.hg19:g.15130351G>C NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 9.416924 TACxACT COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 4 9.328934 KEEP 0 0 0 31 1013 GG 0.999997 0.999997 0 + 17 60 629 0 0 45.418671 192 70 6702 268 ENST00000396410.4 0.08134 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15130594 15130594 __UNKNOWN__ 3'UTR SNP A A G rs6498540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15130594A>G ENST00000396410.4 + 0 2926 PDXDC1_ENST00000569715.1_3'UTR|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGCAATATACAGTGGGACTGC 0.468 NA A||| 1754 0.35024 0.1982 0.536 5008 , , NA 20315 0.372 NA 0.3141 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.*462A>G chr16.hg19:g.15130594A>G NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 7.160851 TACxGTG COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 0 9.027191 KEEP 0 0 0 30 936 AA 0.999997 0.999997 0 + 14 60 495 1 0 34.359976 180 60 6648 254 ENST00000396410.4 0.072165 1 PDXDC1 23042 __UNKNOWN__ __UNKNOWN__ 16 15131076 15131076 __UNKNOWN__ 3'UTR SNP G G A rs1121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15131076G>A ENST00000396410.4 + 0 3408 PDXDC1_ENST00000569715.1_3'UTR|PDXDC1_ENST00000535621.2_Intron NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 NA NA carboxylic acid metabolic process (GO:0019752) Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGATCCAGCCGGGCACCCTGC 0.572 NA A||| 1714 0.342252 0.1778 0.5303 5008 , , NA 16840 0.373 NA 0.3052 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025504, BX647809 CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1 16p13.11 2008-02-05 23042 28995 protein-coding gene gene with protein product 614244 NA Standard NM_015027 XM_005255173 NA Approved KIAA0251 uc002dda.4 Q6P996 OTTHUMG00000166304 ENST00000396410.4:c.*944G>A chr16.hg19:g.15131076G>A NA B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5 hg19 CCDS32393.1 0.02 4.308693 GCCxGGC COVERED NOVEL PDXDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389065.2 0 9.630592 KEEP 0 0 0 32 1086 GG 0.999997 0.999997 0 + 7 60 254 0 0 16.835659 126 60 4432 192 ENST00000396410.4 0.052632 1 NTAN1 123803 __UNKNOWN__ __UNKNOWN__ 16 15131962 15131962 __UNKNOWN__ Missense_Mutation SNP A A G rs1135999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15131962A>G ENST00000287706.3 - 10 951 c.859T>C c.(859-861)Tct>Cct p.S287P PDXDC1_ENST00000535621.2_Intron NM_001270766.1|NM_173474.3 NP_001257695.1|NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 287 NA S -> P (in dbSNP:rs1135999). adult locomotory behavior (GO:0008344)|memory (GO:0007613) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-N-terminal asparagine amidohydrolase activity (GO:0008418) endometrium(1)|large_intestine(4)|lung(3) 8 TTATTTCCAGAAAACAGTGTG 0.393 NA G||| 1723 0.34405 0.1838 0.5331 5008 , , NA 17634 0.37 NA 0.3072 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 G PRO/SER 985,3409 720.3+/-409.0 118,749,1330 80 82 82 859 5.9 1 16 dbSNP_86 82 2565,6035 682.5+/-403.8 359,1847,2094 yes missense NTAN1 NM_173474.2 74 477,2596,3424 GG,GA,AA 29.8256,22.4169,27.3203 benign 287/311 15131962 3550,9444 2197 4300 6497 SO:0001583 missense AF092440 CCDS10558.1, CCDS73832.1 16p13 2008-02-05 ENSG00000157045 ENSG00000157045 123803 29909 protein-coding gene gene with protein product 615367 NA 8910481 Standard NM_173474 NM_173474 NA Approved uc002ddd.4 Q96AB6 OTTHUMG00000129849 ENST00000287706.3:c.859T>C chr16.hg19:g.15131962A>G ENSP00000287706:p.Ser287Pro NA Q7Z4Z0 hg19 CCDS10558.1 0.02 4.459739 CAGxAAA COVERED 727 0.33287545787545786 94 0.1910569105691057 174 0.48066298342541436 216 0.3776223776223776 243 0.32058047493403696 G 7.877 0.729487 0.15507 0.224169 0.298256 ENSG00000157045 ENST00000287706 T 0.23552 1.9 5.87 5.87 0.94306 . 0.000000 0.85682 N 0.000000 T 0.00012 0.0000 N 0.00036 -2.54 0.48762 P 2.950000000000452E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.45101 -0.9284 9 0.02654 T 1 -10.699 14.696 0.69121 0.0692:0.0:0.9308:0.0 rs1135999;rs3087673;rs3199047;rs17841256;rs58432330;rs1135999 287 Q96AB6 NTAN1_HUMAN P 287 ENSP00000287706:S287P ENSP00000287706:S287P S - 1 0 NTAN1 15039463 1.000000 0.71417 1.000000 0.80357 0.977000 0.68977 5.104000 0.64584 1.644000 0.50603 -0.119000 0.15052 TCT NOVEL NTAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252089.1 1 12.033558 KEEP 0 0 0 40 1249 AA 1 1 0 - 5 60 191 0 0 11.969883 145 60 5196 230 ENST00000287706.3 0.033333 1 NTAN1 123803 __UNKNOWN__ __UNKNOWN__ 16 15133889 15133889 __UNKNOWN__ Silent SNP T T G rs14347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15133889T>G ENST00000287706.3 - 8 668 c.576A>C c.(574-576)gcA>gcC p.A192A PDXDC1_ENST00000535621.2_Intron NM_001270766.1|NM_173474.3 NP_001257695.1|NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 192 NA adult locomotory behavior (GO:0008344)|memory (GO:0007613) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-N-terminal asparagine amidohydrolase activity (GO:0008418) endometrium(1)|large_intestine(4)|lung(3) 8 CTTGAAAGGATGCTCTGTAAA 0.458 NA G||| 1726 0.344649 0.1846 0.5331 5008 , , NA 20562 0.372 NA 0.3072 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 G 1000,3394 729.0+/-410.0 121,758,1318 115 121 119 576 -1.8 0.9 16 dbSNP_52 119 2588,6012 689.3+/-404.4 360,1868,2072 no coding-synonymous NTAN1 NM_173474.2 481,2626,3390 GG,GT,TT 30.093,22.7583,27.6127 192/311 15133889 3588,9406 2197 4300 6497 SO:0001819 synonymous_variant AF092440 CCDS10558.1, CCDS73832.1 16p13 2008-02-05 ENSG00000157045 ENSG00000157045 123803 29909 protein-coding gene gene with protein product 615367 NA 8910481 Standard NM_173474 NM_173474 NA Approved uc002ddd.4 Q96AB6 OTTHUMG00000129849 ENST00000287706.3:c.576A>C chr16.hg19:g.15133889T>G NA Q7Z4Z0 hg19 CCDS10558.1 0.02 7.142652 GGAxGCT COVERED NOVEL NTAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252089.1 1 23.767433 KEEP 0 0 0 79 2414 TT 1 1 0 - 11 60 417 0 0 28.553438 185 60 6838 341 ENST00000287706.3 0.056122 1 KIAA0430 9665 __UNKNOWN__ __UNKNOWN__ 16 15711142 15711142 __UNKNOWN__ Intron SNP A A G rs2071334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15711142A>G ENST00000540441.2 - 13 2527 KIAA0430_ENST00000548025.1_Intron|KIAA0430_ENST00000396368.3_Intron|KIAA0430_ENST00000551742.1_Intron|KIAA0430_ENST00000602337.1_Intron|KIAA0430_ENST00000344181.3_Intron Q9Y4F3 MARF1_HUMAN KIAA0430 NA NA double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468) membrane (GO:0016020)|peroxisome (GO:0005777) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCTAAAGGAAAACGAACGGCA 0.408 NA A||| 514 0.102636 0.0446 0.0706 5008 , , NA 20837 0.2917 NA 0.008 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 A ,, 136,3606 0,136,1735 73 69 70 ,, -4.3 0 16 dbSNP_96 70 108,8106 1,106,4000 no intron,intron,intron KIAA0430 NM_001184998.1,NM_001184999.1,NM_014647.3 ,, 1,242,5735 GG,GA,AA 1.3148,3.6344,2.0408 ,, ,, 15711142 244,11712 1871 4107 5978 SO:0001627 intron_variant AB007890 CCDS10562.2, CCDS53990.1, CCDS55991.1 16p13.11 2013-01-11 ENSG00000166783 ENSG00000166783 9665 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 29562 protein-coding gene gene with protein product limkain b1, protein phosphatase 1, regulatory subunit 34, meiosis arrest female 1 614593 NA 9455477, 10493829, 15932519, 22442484, 23090997 Standard NM_014647 NM_014647 NA Approved LKAP, PPP1R34, Marf1 uc010uzw.2 Q9Y4F3 OTTHUMG00000129884 ENST00000540441.2:c.2462+13T>C chr16.hg19:g.15711142A>G NA A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9 hg19 0.02 17.307762 GAAxACG COVERED NOVEL KIAA0430-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000403737.1 2 27.682113 KEEP 0 0 0 92 2902 AA 1 1 0 - 25 60 986 0 0 70.262221 363 60 13106 614 ENST00000540441.2 0.064433 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15826384 15826384 __UNKNOWN__ Intron SNP T T C rs75139720 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15826384T>C ENST00000300036.5 - 27 3761 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GTCACTCTTATGTGTCATCAC 0.433 NA T CBFB AML T||| 249 0.0497204 0.0045 0.0086 5008 , , NA 21853 0.1825 NA 0.006 False NA ,,, NA NA NA 2504 0.0481 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 T ,,, 15,4379 22.3+/-47.3 0,15,2182 134 124 128 ,,, -5.9 0 16 dbSNP_131 128 79,8521 46.7+/-105.8 0,79,4221 no intron,intron,intron,intron MYH11 NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2 ,,, 0,94,6403 CC,CT,TT 0.9186,0.3414,0.7234 ,,, ,,, 15826384 94,12900 2197 4300 6497 SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.3651+36A>G chr16.hg19:g.15826384T>C NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 15.715984 TTAxGTG COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 2 22.567462 KEEP 0 0 0 75 2349 TT 1 1 0 - 25 60 907 0 0 62.733856 351 60 13032 570 ENST00000300036.5 0.066489 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15841830 15841830 __UNKNOWN__ Intron SNP G G A rs2293736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15841830G>A ENST00000300036.5 - 18 2290 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GTCACCCCGGGTACCTCCAGC 0.602 NA T CBFB AML G||| 415 0.0828674 0.053 0.049 5008 , , NA 18655 0.1925 NA 0.0497 False NA ,,, NA NA NA 2504 0.0685 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 G ,,, 219,4175 133.3+/-169.7 5,209,1983 69 59 62 ,,, -3.3 0 16 dbSNP_100 62 578,8022 156.1+/-210.0 19,540,3741 no intron,intron,intron,intron MYH11 NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2 ,,, 24,749,5724 AA,AG,GG 6.7209,4.9841,6.1336 ,,, ,,, 15841830 797,12197 2197 4300 6497 SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.2181-30C>T chr16.hg19:g.15841830G>A NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 17.828665 CGGxTAC COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 1 27.645549 KEEP 0 0 0 92 3190 GG 1 1 0 - 14 60 475 0 0 26.992441 483 60 17415 731 ENST00000300036.5 0.028169 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15853596 15853596 __UNKNOWN__ Intron SNP C C G rs587781081|rs2280764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15853596C>G ENST00000300036.5 - 12 1358 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTGCAGAGGGCAACCAGGGGA 0.532 NA T CBFB AML G||| 2676 0.534345 0.7352 0.3775 5008 , , NA 18917 0.6567 NA 0.3757 False NA ,,, NA NA NA 2504 0.411 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 G ,,, 2940,1454 465.9+/-354.3 987,966,244 53 47 49 ,,, 0.8 0 16 dbSNP_100 49 3209,5391 648.8+/-400.5 625,1959,1716 no intron,intron,intron,intron MYH11 NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2 ,,, 1612,2925,1960 GG,GC,CC 37.314,33.0906,47.3218 ,,, ,,, 15853596 6149,6845 2197 4300 6497 SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.1249-11G>C chr16.hg19:g.15853596C>G NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 2.143997 GGGxAAC COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 1 3.310347 KEEP 0 0 0 11 367 CC 0.993072 0.984099 0 - 4 60 134 0 0 8.881832 58 60 2127 77 ENST00000300036.5 0.064516 0.990964 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15872609 15872609 __UNKNOWN__ Intron SNP A A G rs2075514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15872609A>G ENST00000300036.5 - 7 900 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AGGGGTACCCATTTGGCCCAG 0.537 NA T CBFB AML G||| 991 0.197883 0.1657 0.1369 5008 , , NA 19892 0.3234 NA 0.2008 False NA ,,, NA NA NA 2504 0.1524 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 G ,,, 768,3626 753.0+/-412.3 64,640,1493 132 99 110 ,,, -8.2 0 16 dbSNP_96 110 1781,6819 733.7+/-406.9 194,1393,2713 no intron,intron,intron,intron MYH11 NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2 ,,, 258,2033,4206 GG,GA,AA 20.7093,17.4784,19.6167 ,,, ,,, 15872609 2549,10445 2197 4300 6497 SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.790+27T>C chr16.hg19:g.15872609A>G NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 6.977885 CCCxTTT COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 1 12.036041 KEEP 0 0 0 40 1252 AA 1 1 0 - 12 60 381 0 0 23.250242 225 60 8165 323 ENST00000300036.5 0.050633 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15872748 15872748 __UNKNOWN__ Intron SNP G G T rs11644832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15872748G>T ENST00000300036.5 - 7 836 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AACTTCAGCCGTTAACCCCAT 0.552 NA T CBFB AML T||| 996 0.198882 0.1649 0.1369 5008 , , NA 19461 0.3234 NA 0.2008 False NA ,,, NA NA NA 2504 0.1585 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 T ,,, 767,3627 753.1+/-412.3 64,639,1494 88 68 75 ,,, -0.8 0 16 dbSNP_120 75 1780,6820 733.6+/-406.9 193,1394,2713 no intron,intron,intron,intron MYH11 NM_001040113.1,NM_001040114.1,NM_002474.2,NM_022844.2 ,,, 257,2033,4207 TT,TG,GG 20.6977,17.4556,19.6014 ,,, ,,, 15872748 2547,10447 2197 4300 6497 SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.727-48C>A chr16.hg19:g.15872748G>T NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 13.931479 GCCxTTA COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 3 25.266622 KEEP 0 0 0 84 2939 GG 1 1 0 - 21 60 757 0 0 51.78969 309 60 11184 520 ENST00000300036.5 0.063636 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15872807 15872807 __UNKNOWN__ Intron SNP G G A rs11645883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15872807G>A ENST00000300036.5 - 7 836 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GAGGTGGGGCGGGGAGATTCT 0.562 NA T CBFB AML G||| 996 0.198882 0.1649 0.1369 5008 , , NA 15956 0.3234 NA 0.2008 False NA ,,, NA NA NA 2504 0.1585 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.727-107C>T chr16.hg19:g.15872807G>A NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 6.787297 GGCxGGG COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 0 8.058865 KEEP 0 1 26 36 1218 GG 1 1 0 - 12 60 430 0 0 29.314973 179 60 6397 251 ENST00000300036.5 0.062827 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15876471 15876471 __UNKNOWN__ Intron SNP T T C rs2075513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15876471T>C ENST00000300036.5 - 6 743 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TAGACCCTGATGCTAATGTTC 0.453 NA T CBFB AML T||| 1007 0.201078 0.1278 0.1354 5008 , , NA 20946 0.3611 NA 0.2227 False NA ,,, NA NA NA 2504 0.1595 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.634-137A>G chr16.hg19:g.15876471T>C NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 3.162628 TGAxGCT COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 1 6.319564 KEEP 0 0 0 21 671 TT 0.999869 0.999869 0 - 7 60 231 0 0 14.16435 143 60 5241 179 ENST00000300036.5 0.046667 1 MYH11 4629 __UNKNOWN__ __UNKNOWN__ 16 15880386 15880386 __UNKNOWN__ Intron SNP G G T rs550329402 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:15880386G>T ENST00000300036.5 - 5 743 MYH11_ENST00000396324.3_Intron|MYH11_ENST00000452625.2_Intron|MYH11_ENST00000576790.2_Intron NM_002474.2 NP_002465.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle NA NA axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725) ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GTCAGATGGGGCCTGAGTTCT 0.527 NA T CBFB AML G||| 1 0.000199681 0.0 0.0 5008 , , NA 18596 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 16 16p13.13-p13.12 4629 myosin, heavy polypeptide 11, smooth muscle L 0 33 30 31 NA NA 16 NA 15880386 876 1991 2867 SO:0001627 intron_variant X69292 CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1 16p13.11 2011-09-27 2006-09-29 ENSG00000133392 ENSG00000133392 4629 Myosins / Myosin superfamily : Class II 7569 protein-coding gene gene with protein product 160745 myosin, heavy polypeptide 11, smooth muscle NA 7684189 Standard NM_001040113 NM_001040113 NA Approved SMMHC, SMHC uc002ddx.3 P35749 OTTHUMG00000129935 ENST00000300036.5:c.633+100C>A chr16.hg19:g.15880386G>T NA D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1 hg19 CCDS10565.1 0.02 7.726238 GGGxCCT COVERED NOVEL MYH11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252192.2 1 12.038604 KEEP 0 0 0 40 1399 GG 1 1 0 - 8 60 257 0 0 14.684223 212 60 7756 304 ENST00000300036.5 0.036364 1 ABCC1 4363 __UNKNOWN__ __UNKNOWN__ 16 16177275 16177275 __UNKNOWN__ Missense_Mutation SNP G G A rs587779731|rs4148356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:16177275G>A ENST00000399410.3 + 17 2343 c.2168G>A c.(2167-2169)cGa>cAa p.R723Q ABCC1_ENST00000346370.5_Missense_Mutation_p.R723Q|ABCC1_ENST00000399408.2_Missense_Mutation_p.R723Q|ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000345148.5_Missense_Mutation_p.R723Q NM_004996.3 NP_004987.2 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 723 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA R -> Q (in dbSNP:rs4148356). {ECO:0000269|PubMed:11266082, ECO:0000269|Ref.4}. arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399) GATTCTCTCCGAGAAAACATC 0.527 NA G||| 110 0.0219649 0.0008 0.0648 5008 , , NA 21711 0.0476 NA 0.0129 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 G GLN/ARG,,GLN/ARG,,GLN/ARG 14,4032 0,14,2009 74 77 76 2168,,2168,,2168 -2.9 0.1 16 dbSNP_110 76 101,8341 1,99,4121 yes missense,intron,missense,intron,missense ABCC1 NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2 43,,43,,43 1,113,6130 AA,AG,GG 1.1964,0.346,0.9209 benign,,benign,,benign 723/1532,,723/1476,,723/1467 16177275 115,12373 2023 4221 6244 SO:0001583 missense L05628 CCDS42122.1 16p13.1 2012-03-14 ENSG00000103222 ENSG00000103222 4363 ATP binding cassette transporters / subfamily C 51 protein-coding gene gene with protein product 158343 multidrug resistance associated protein 1 MRP, MRP1 NA 8098549, 1360704 Standard NM_004996 NM_004996 NA Approved GS-X uc010bvi.3 P33527 OTTHUMG00000048267 ENST00000399410.3:c.2168G>A chr16.hg19:g.16177275G>A ENSP00000382342:p.Arg723Gln NA A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0 hg19 CCDS42122.1 0.02 2.322649 TCCxAGA COVERED 60 0.027472527472527472 0 0.0 15 0.04143646408839779 30 0.05244755244755245 15 0.01978891820580475 G 0.483 -0.879154 0.02550 0.00346 0.011964 ENSG00000103222 ENST00000399410;ENST00000399408;ENST00000346370;ENST00000345148;ENST00000536381 D;D;D;D 0.94184 -3.37;-3.37;-3.37;-3.37 5.27 -2.86 0.05717 ATPase, AAA+ type, core (1);ABC transporter-like (2); 0.675642 0.14454 N 0.318598 T 0.66015 0.2747 M 0.68593 2.085 0.09310 N 1 B;B;B;B 0.17268 0.009;0.021;0.014;0.011 B;B;B;B 0.15484 0.002;0.007;0.013;0.007 T 0.65467 -0.6161 10 0.10377 T 0.69 1.3785 13.8447 0.63459 0.6074:0.0:0.3926:0.0 rs4148356;rs52805887;rs60989413;rs4148356 723;723;723;723 P33527-4;P33527-3;P33527;P33527-9 .;.;MRP1_HUMAN;. Q 723;723;723;723;397 ENSP00000382342:R723Q;ENSP00000382340:R723Q;ENSP00000263019:R723Q;ENSP00000263014:R723Q ENSP00000263014:R723Q R + 2 0 ABCC1 16084776 0.000000 0.05858 0.073000 0.20177 0.439000 0.31926 0.166000 0.16583 -1.263000 0.02455 -2.010000 0.00438 CGA NOVEL ABCC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109701.1 1 8.727837 KEEP 0 0 0 29 973 GG 0.999997 0.970818 0 + 4 60 154 0 0 11.150795 49 60 1685 101 ENST00000399410.3 0.075472 0.97082 ABCC6 368 __UNKNOWN__ __UNKNOWN__ 16 16255437 16255437 __UNKNOWN__ Intron SNP A A G rs3213471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:16255437A>G ENST00000205557.7 - 25 3536 NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 NA NA response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570) AAGGGAAGCGACAGCAGGGTG 0.582 NA A||| 354 0.0706869 0.152 0.0274 5008 , , NA 22328 0.0893 NA 0.005 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 A 578,3816 252.1+/-258.6 33,512,1652 52 49 50 http://www.ncbi.nlm.nih.gov/sites/varvu?gene -4 0 16 dbSNP_106 50 71,8529 41.2+/-98.3 0,71,4229 no intron ABCC6 NM_001171.5 33,583,5881 GG,GA,AA 0.8256,13.1543,4.9946 16255437 649,12345 2197 4300 6497 SO:0001627 intron_variant AF076622 CCDS10568.1, CCDS58430.1 16p13.11 2013-01-08 ENSG00000091262 ENSG00000091262 368 ATP binding cassette transporters / subfamily C 57 protein-coding gene gene with protein product 603234 pseudoxanthoma elasticum ARA, PXE NA 9721217, 11439001 Standard NM_001079528 NA Approved MRP6, EST349056, MLP1, URG7 uc002den.4 O95255 OTTHUMG00000129967 ENST00000205557.7:c.3507-16T>C chr16.hg19:g.16255437A>G NA A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7 hg19 CCDS10568.1 0.02 4.294389 GCGxCAG COVERED NOVEL ABCC6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252232.2 1 11.734131 KEEP 0 0 0 39 1198 AA 1 1 0 - 5 60 193 0 0 12.227819 141 60 4977 222 ENST00000205557.7 0.034247 1 XYLT1 64131 __UNKNOWN__ __UNKNOWN__ 16 17201896 17201896 __UNKNOWN__ 3'UTR SNP C C T rs59519766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:17201896C>T ENST00000261381.6 - 0 3620 NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I NA NA cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012) endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AAGGCTGCAGCCTCCATGGGA 0.532 NA C||| 1150 0.229633 0.1248 0.2464 5008 , , NA 19595 0.3869 NA 0.2276 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ277441 CCDS10569.1 16p12 2013-02-25 ENSG00000103489 ENSG00000103489 64131 2.4.2.26 Glucosaminyl (N-acetyl) transferase and xylosyltransferase family 15516 protein-coding gene gene with protein product protein xylosyltransferase 1 608124 NA 11099377 Standard NM_022166 NM_022166 NA Approved XT-I, PXYLT1 uc002dfa.3 Q86Y38 OTTHUMG00000129975 ENST00000261381.6:c.*656G>A chr16.hg19:g.17201896C>T NA Q9H1B6 hg19 CCDS10569.1 0.02 7.819222 CAGxCTC COVERED NOVEL XYLT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252241.2 3 6.019465 KEEP 0 0 0 20 706 CC 0.999863 0.999863 0 - 11 60 347 0 0 21.224703 209 60 7563 279 ENST00000261381.6 0.05 1 ABCC6P1 653190 __UNKNOWN__ __UNKNOWN__ 16 18603809 18603809 __UNKNOWN__ RNA SNP C C T rs200315843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:18603809C>T ENST00000546162.2 + 0 1203 NR_003569.1 ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional) NA NA NA AAGGCAACACCCTTAGGCACC 0.532 NA .||| 206 0.0411342 0.0015 0.0821 5008 , , NA 21020 0.0704 NA 0.0358 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA BC075833 16p12.3 2014-09-11 2014-05-09 ENSG00000256340 ENSG00000256340 653190 - 33352 pseudogene pseudogene ATP-binding cassette, sub-family C, member 6 pseudogene 1 NA 18405356, 22873774 Standard NR_003569 NR_003569 NA Approved uc002dfg.3 OTTHUMG00000177192 ENST00000546162.2: chr16.hg19:g.18603809C>T NA hg19 0.02 -0.40356 CACxCTT UNCOVERED NOVEL ABCC6P1-004 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000435772.2 0 2.708785 KEEP 36 0 0 9 314 CC 0 0 0 + 4 40 140 0 0 10.008526 42 40 1526 95 ENST00000546162.2 0.086957 0.934492 CLEC19A 728276 __UNKNOWN__ __UNKNOWN__ 16 19297219 19297219 __UNKNOWN__ Missense_Mutation SNP T T G rs179196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19297219T>G ENST00000493231.1 + 1 159 c.46T>G c.(46-48)Tct>Gct p.S16A CLEC19A_ENST00000465414.1_Missense_Mutation_p.S16A Q6UXS0 CL19A_HUMAN C-type lectin domain family 19, member A 16 NA S -> A (in Ref. 2; BC119018). {ECO:0000305}. extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NA GACCCTCCACTCTGCACAGGC 0.557 NA T||| 1058 0.211262 0.0144 0.2378 5008 , , NA 19551 0.5228 NA 0.0825 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 16p12.3 2013-01-07 ENSG00000261210 ENSG00000261210 728276 C-type lectin domain containing 34522 protein-coding gene gene with protein product NA Standard NM_00125672 NM_001256720 NA Approved uc031qvg.1 Q6UXS0 OTTHUMG00000177218 ENST00000493231.1:c.46T>G chr16.hg19:g.19297219T>G ENSP00000455985:p.Ser16Ala NA Q0VF32 hg19 0.02 6.822118 CACxCTG COVERED NOVEL CLEC19A-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000438114.1 1 6.91925 KEEP 0 0 0 23 708 TT 0.999892 0.999892 0 + 15 60 542 0 0 38.681066 172 60 6510 265 ENST00000493231.1 0.080214 1 TMC5 79838 __UNKNOWN__ __UNKNOWN__ 16 19460765 19460765 __UNKNOWN__ Intron SNP G G T rs56293144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19460765G>T ENST00000541464.1 + 5 1500 TMC5_ENST00000542583.2_Intron|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000396229.2_Intron Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AGTCTTATTAGCCGTTACGAA 0.408 NA G||| 258 0.0515176 0.1346 0.0101 5008 , , NA 21271 0.0298 NA 0.0199 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY263164 CCDS10577.1, CCDS42126.1, CCDS45431.1 16p13.11 2008-02-05 ENSG00000103534 ENSG00000103534 79838 22999 protein-coding gene gene with protein product NA 12812529, 12906855 Standard NM_024780 NM_024780 NA Approved FLJ13593 uc010var.2 Q6UXY8 OTTHUMG00000131458 ENST00000541464.1:c.959-99G>T chr16.hg19:g.19460765G>T NA Q68DK8|Q8IY20|Q8NHV6|Q9H8I7 hg19 0.02 10.516501 TTAxCCG COVERED NOVEL TMC5-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000435887.1 1 9.630917 KEEP 0 0 0 32 1149 GG 0.999997 0.999997 0 + 16 60 580 0 0 38.539569 283 60 10885 409 ENST00000541464.1 0.053512 1 TMC5 79838 __UNKNOWN__ __UNKNOWN__ 16 19509902 19509902 __UNKNOWN__ 3'UTR SNP T T C rs9925444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19509902T>C ENST00000396229.2 + 0 4384 TMC5_ENST00000542583.2_3'UTR|TMC5_ENST00000381414.4_3'UTR|TMC5_ENST00000219821.5_3'UTR NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGAGGTGTTATACATGACCAT 0.458 NA T||| 1216 0.242812 0.3449 0.2565 5008 , , NA 17564 0.3819 NA 0.0755 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY263164 CCDS10577.1, CCDS42126.1, CCDS45431.1 16p13.11 2008-02-05 ENSG00000103534 ENSG00000103534 79838 22999 protein-coding gene gene with protein product NA 12812529, 12906855 Standard NM_024780 NM_024780 NA Approved FLJ13593 uc010var.2 Q6UXY8 OTTHUMG00000131458 ENST00000396229.2:c.*614T>C chr16.hg19:g.19509902T>C NA Q68DK8|Q8IY20|Q8NHV6|Q9H8I7 hg19 CCDS45431.1 0.02 7.144837 TTAxACA COVERED NOVEL TMC5-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435888.1 1 6.920495 KEEP 0 0 0 23 719 TT 0.999892 0.999892 0 + 9 60 340 0 0 22.939895 164 70 5922 228 ENST00000396229.2 0.052023 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 19512988 19512988 __UNKNOWN__ IGR SNP C C T rs35132880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19512988C>T NA NA TMC5 (2553 upstream) : CTA-363E6.7 (22 downstream) NA NA NA TAACATGGCACGGAAGTACAT 0.378 NA C||| 1072 0.214058 0.2398 0.2507 5008 , , NA 22469 0.3819 NA 0.0746 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.19512988C>T NA hg19 0.02 1.8917 GCAxGGA COVERED NOVEL 0 0 4.815043 KEEP 0 0 0 16 533 CC 0.997832 0.993528 0 4 60 141 0 0 9.404572 64 60 2277 86 0.058824 0.995687 GDE1 51573 __UNKNOWN__ __UNKNOWN__ 16 19518945 19518945 __UNKNOWN__ Intron SNP G G A rs11860778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19518945G>A ENST00000353258.3 - 4 817 NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 NA NA glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 CTGTGCTTACGCAGCCCATTG 0.403 NA G||| 1105 0.220647 0.261 0.2522 5008 , , NA 16615 0.3839 NA 0.0746 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10578.1 16p12-p11.2 2011-01-25 ENSG00000006007 ENSG00000006007 51573 3.1.4.46 29644 protein-coding gene gene with protein product membrane interacting protein of RGS16 605943 NA 12576545, 16472945 Standard NM_016641 NM_016641 NA Approved MIR16 uc002dgh.3 Q9NZC3 OTTHUMG00000131454 ENST00000353258.3:c.636+63C>T chr16.hg19:g.19518945G>A NA O43334|Q6PKF7|Q7KYR4 hg19 CCDS10578.1 0.02 11.062533 TACxCAG COVERED NOVEL GDE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254274.2 1 16.252516 KEEP 0 0 0 54 1891 GG 1 1 0 - 11 60 401 0 0 25.392465 259 60 9169 414 ENST00000353258.3 0.040741 1 GDE1 51573 __UNKNOWN__ __UNKNOWN__ 16 19522101 19522101 __UNKNOWN__ Intron SNP T T C rs2074171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19522101T>C ENST00000353258.3 - 3 724 NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 NA NA glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 ACTTCGGAAATGACCGTCAAT 0.289 NA T||| 1219 0.243411 0.3457 0.2579 5008 , , NA 15704 0.3829 NA 0.0755 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10578.1 16p12-p11.2 2011-01-25 ENSG00000006007 ENSG00000006007 51573 3.1.4.46 29644 protein-coding gene gene with protein product membrane interacting protein of RGS16 605943 NA 12576545, 16472945 Standard NM_016641 NM_016641 NA Approved MIR16 uc002dgh.3 Q9NZC3 OTTHUMG00000131454 ENST00000353258.3:c.543+59A>G chr16.hg19:g.19522101T>C NA O43334|Q6PKF7|Q7KYR4 hg19 CCDS10578.1 0.02 8.551642 AAAxGAC COVERED NOVEL GDE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254274.2 1 7.518978 KEEP 0 0 0 25 707 TT 0.999931 0.999931 0 - 11 60 412 0 0 27.311933 217 60 7819 261 ENST00000353258.3 0.048246 1 CCP110 9738 __UNKNOWN__ __UNKNOWN__ 16 19547357 19547357 __UNKNOWN__ Silent SNP A A G rs10492785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19547357A>G ENST00000381396.5 + 4 613 c.366A>G c.(364-366)acA>acG p.T122T CCP110_ENST00000396212.2_Silent_p.T122T|CCP110_ENST00000396208.2_Silent_p.T122T NM_001199022.1 NP_001185951 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 122 CEP97 binding. NA cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234) p.T122T(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TTCCTGCTACATTTCCAAATA 0.393 NA A||| 1088 0.217252 0.2474 0.2536 5008 , , NA 16203 0.3849 NA 0.0746 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A , 929,3465 356.4+/-313.5 86,757,1354 76 76 76 366,366 -1.9 0 16 dbSNP_119 76 559,8041 151.9+/-206.6 15,529,3756 no coding-synonymous,coding-synonymous CCP110 NM_001199022.1,NM_014711.4 , 101,1286,5110 GG,GA,AA 6.5,21.1425,11.4514 , 122/1013,122/992 19547357 1488,11506 2197 4300 6497 SO:0001819 synonymous_variant AB007879 CCDS10579.1, CCDS55992.1 16p12.3 2014-02-20 2011-05-27 ENSG00000103540 ENSG00000103540 9738 24342 protein-coding gene gene with protein product 609544 NA 9455477, 12361598, 16760425 Standard NM_014711 NM_014711 NA Approved KIAA0419, CP110 uc002dgl.4 O43303 OTTHUMG00000131459 ENST00000381396.5:c.366A>G chr16.hg19:g.19547357A>G NA B7WP23|O43335|Q68DV9|Q8NE13 hg19 CCDS55992.1 0.02 8.197372 TACxTTT COVERED NOVEL CCP110-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254284.2 1 13.227268 KEEP 0 0 0 44 1382 AA 1 1 0 + 20 60 654 0 0 45.82623 203 60 7293 309 ENST00000381396.5 0.089686 1 CCP110 9738 __UNKNOWN__ __UNKNOWN__ 16 19547503 19547503 __UNKNOWN__ Missense_Mutation SNP C C T rs3751821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19547503C>T ENST00000381396.5 + 4 759 c.512C>T c.(511-513)cCg>cTg p.P171L CCP110_ENST00000396212.2_Missense_Mutation_p.P171L|CCP110_ENST00000396208.2_Missense_Mutation_p.P171L NM_001199022.1 NP_001185951 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 171 CEP97 binding. NA P -> L (in dbSNP:rs3751821). cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465) centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234) p.P171L(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 TTTAATTCTCCGAAGCAATGT 0.378 NA C||| 1203 0.240216 0.3313 0.2579 5008 , , NA 18797 0.3849 NA 0.0755 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C LEU/PRO,LEU/PRO 1269,3125 431.4+/-342.9 170,929,1098 97 105 102 512,512 -2.3 0.4 16 dbSNP_107 102 565,8035 152.5+/-207.1 15,535,3750 yes missense,missense CCP110 NM_001199022.1,NM_014711.4 98,98 185,1464,4848 TT,TC,CC 6.5698,28.8803,14.1142 benign,benign 171/1013,171/992 19547503 1834,11160 2197 4300 6497 SO:0001583 missense AB007879 CCDS10579.1, CCDS55992.1 16p12.3 2014-02-20 2011-05-27 ENSG00000103540 ENSG00000103540 9738 24342 protein-coding gene gene with protein product 609544 NA 9455477, 12361598, 16760425 Standard NM_014711 NM_014711 NA Approved KIAA0419, CP110 uc002dgl.4 O43303 OTTHUMG00000131459 ENST00000381396.5:c.512C>T chr16.hg19:g.19547503C>T ENSP00000370803:p.Pro171Leu NA B7WP23|O43335|Q68DV9|Q8NE13 hg19 CCDS55992.1 0.02 19.034661 CTCxGAA COVERED 521 0.23855311355311357 175 0.3556910569105691 77 0.212707182320442 215 0.3758741258741259 54 0.0712401055408971 C 0.441 -0.898743 0.02472 0.288803 0.065698 ENSG00000103540 ENST00000396212;ENST00000381396;ENST00000396208 T;T;T 0.13657 2.57;2.58;2.57 5.89 -2.28 0.06826 . 1.287990 0.05136 N 0.493485 T 0.00012 0.0000 N 0.00707 -1.245 0.58432 P 1.0000000000287557E-6 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.46803 -0.9165 9 0.29301 T 0.29 -0.0337 7.3644 0.26764 0.1116:0.4194:0.0:0.4689 rs3751821;rs52803660;rs60078054;rs3751821 171;171 O43303;O43303-2 CP110_HUMAN;. L 171 ENSP00000379515:P171L;ENSP00000370803:P171L;ENSP00000379511:P171L ENSP00000370803:P171L P + 2 0 CCP110 19455004 0.000000 0.05858 0.357000 0.25798 0.964000 0.63967 -0.239000 0.08965 -0.069000 0.12931 -0.290000 0.09829 CCG NOVEL CCP110-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254284.2 3 15.628533 KEEP 0 0 0 52 1686 CC 1 1 0 + 27 60 1026 0 0 72.030883 391 60 13579 513 ENST00000381396.5 0.064593 1 C16orf62 57020 __UNKNOWN__ __UNKNOWN__ 16 19580711 19580711 __UNKNOWN__ Intron SNP G G C rs8062210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19580711G>C ENST00000438132.3 + 3 432 C16orf62_ENST00000538853.1_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000251143.5_Intron NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 AGAGTTGTGGGAGTTCCGTTT 0.478 NA G||| 547 0.109225 0.2905 0.0533 5008 , , NA 20357 0.0347 NA 0.0666 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 G 959,3435 344.9+/-308.3 101,757,1339 34 35 35 1 0 16 dbSNP_116 35 526,8074 141.9+/-198.1 20,486,3794 no intron C16orf62 NM_020314.5 121,1243,5133 CC,CG,GG 6.1163,21.8252,11.4284 19580711 1485,11509 2197 4300 6497 SO:0001627 intron_variant CCDS32397.1, CCDS32397.2, CCDS73840.1 16p12.3 2012-05-30 ENSG00000103544 ENSG00000103544 57020 24641 protein-coding gene gene with protein product NA 10493829 Standard NM_020314 NM_020314 NA Approved MGC16824 uc002dgn.3 Q7Z3J2 OTTHUMG00000167925 ENST00000438132.3:c.385-35G>C chr16.hg19:g.19580711G>C NA A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8 hg19 CCDS32397.2 0.02 13.999415 TGGxAGT COVERED NOVEL C16orf62-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000397058.2 1 12.640087 KEEP 0 0 0 42 1440 GG 1 1 0 + 9 60 348 0 0 21.405326 302 60 11008 398 ENST00000438132.3 0.028939 1 C16orf62 57020 __UNKNOWN__ __UNKNOWN__ 16 19644343 19644343 __UNKNOWN__ Intron SNP T T C rs74926941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:19644343T>C ENST00000438132.3 + 19 1869 C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000251143.5_Intron|C16orf62_ENST00000543152.1_Intron NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 NA NA integral component of membrane (GO:0016021) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CGTTAGTCCTTTCCCCCAGGA 0.423 NA T||| 91 0.0181709 0.0 0.0014 5008 , , NA 22810 0.0367 NA 0.008 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32397.1, CCDS32397.2, CCDS73840.1 16p12.3 2012-05-30 ENSG00000103544 ENSG00000103544 57020 24641 protein-coding gene gene with protein product NA 10493829 Standard NM_020314 NM_020314 NA Approved MGC16824 uc002dgn.3 Q7Z3J2 OTTHUMG00000167925 ENST00000438132.3:c.1822-71T>C chr16.hg19:g.19644343T>C NA A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8 hg19 CCDS32397.2 0.02 9.145506 CCTxTCC COVERED NOVEL C16orf62-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000397058.2 1 5.114517 KEEP 0 0 0 17 517 TT 0.999366 0.999366 0 + 8 60 309 0 0 19.490099 232 60 8277 282 ENST00000438132.3 0.033333 1 GPR139 124274 __UNKNOWN__ __UNKNOWN__ 16 20052123 20052123 __UNKNOWN__ Intron SNP G G A rs1379575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:20052123G>A ENST00000570682.1 - 2 428 NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide receptor activity (GO:0008188) autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 gaacttttttgattgcaatgg 0.428 NA G||| 884 0.176518 0.0113 0.1599 5008 , , NA 16589 0.3462 NA 0.2416 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY255545 CCDS32398.1 16p13.11 2012-08-21 124274 GPCR / Class A : Orphans 19995 protein-coding gene gene with protein product NA 12679517 Standard NM_001002911 XM_005255114 NA Approved PGR3 uc002dgu.1 Q6DWJ6 ENST00000570682.1:c.128-8132C>T chr16.hg19:g.20052123G>A NA A8K5R9|Q86SP2|Q8TDU8 hg19 CCDS32398.1 0.02 10.13544 TTTxATT COVERED NOVEL GPR139-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438522.1 1 9.631148 KEEP 0 0 0 32 1131 GG 0.999997 0.999997 0 - 10 60 327 0 0 19.479836 253 60 9733 366 ENST00000570682.1 0.038023 1 GP2 2813 __UNKNOWN__ __UNKNOWN__ 16 20328685 20328685 __UNKNOWN__ Silent SNP T T C rs1129818 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:20328685T>C ENST00000381362.4 - 9 1351 c.1275A>G c.(1273-1275)caA>caG p.Q425Q GP2_ENST00000381360.5_Silent_p.Q278Q|GP2_ENST00000302555.5_Silent_p.Q422Q|GP2_ENST00000341642.5_Silent_p.Q275Q NM_001007240.1|NM_001502.2 NP_001007241.2|NP_001493.2 P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 425 ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}. NA antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412) anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062) antigen binding (GO:0003823) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TGGAATCACGTTGATTTGAGC 0.483 NA T||| 1194 0.238419 0.0522 0.3012 5008 , , NA 16717 0.1071 NA 0.4364 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 T ,,, 557,3849 248.4+/-256.2 29,499,1675 86 69 75 1275,834,825,1266 -1.7 0 16 dbSNP_86 75 3778,4822 535.9+/-382.9 830,2118,1352 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous GP2 NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2 ,,, 859,2617,3027 CC,CT,TT 43.9302,12.6419,33.3308 ,,, 425/538,278/391,275/388,422/535 20328685 4335,8671 2203 4300 6503 SO:0001819 synonymous_variant U36221 CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1 16p12.3 2008-02-05 ENSG00000169347 ENSG00000169347 2813 4441 protein-coding gene gene with protein product 602977 NA 9605860 Standard NM_016295 XM_005255259 NA Approved uc002dgw.3 P55259 OTTHUMG00000131489 ENST00000381362.4:c.1275A>G chr16.hg19:g.20328685T>C NA A6NFM9|A6NJA8|Q13338|Q9UIF1 hg19 CCDS42128.1 0.02 9.602376 ACGxTGA COVERED NOVEL GP2-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000436920.1 0 5.71605 KEEP 0 0 0 19 585 TT 0.99986 0.99986 0 - 8 60 306 0 0 19.485789 213 60 7609 276 ENST00000381362.4 0.036199 1 ACSM2A 123876 __UNKNOWN__ __UNKNOWN__ 16 20488803 20488803 __UNKNOWN__ Intron SNP T T A rs1634306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:20488803T>A ENST00000573854.1 + 9 1293 ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000219054.6_Intron|ACSM2A_ENST00000575690.1_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000396104.2_Intron|ACSM2A_ENST00000417235.2_Intron NM_001010845.2 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A NA NA fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328) mitochondrion (GO:0005739) ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GGGAGGAAGTTAGGGGAAACA 0.368 NA t||| 1941 0.38758 0.3404 0.6268 5008 , , NA 20254 0.0972 NA 0.5915 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 109 93 98 NA NA 16 NA 20488803 2203 4300 6503 SO:0001627 intron_variant AK091878, AK096039 CCDS32401.1 16p12.3 2014-08-08 2007-06-20 2007-06-20 ENSG00000183747 ENSG00000183747 123876 Acyl-CoA synthetase family 32017 protein-coding gene gene with protein product 614358 acyl-CoA synthetase medium-chain family member 2 ACSM2 NA Standard NM_001010845 NM_001010845 NA Approved A-923A4.1, MGC150530 uc010bwe.3 Q08AH3 OTTHUMG00000177401 ENST00000573854.1:c.1179+32T>A chr16.hg19:g.20488803T>A NA B3KTT9|O75202 hg19 CCDS32401.1 0.02 7.955584 AGTxAGG COVERED NOVEL ACSM2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436764.1 0 2.540184 KEEP 63 1 30 19 588 TT 0.99649 0.99649 0 + 7 60 248 0 0 14.894041 198 60 7044 318 ENST00000573854.1 0.034146 1 ACSM2B 348158 __UNKNOWN__ __UNKNOWN__ 16 20563528 20563528 __UNKNOWN__ Missense_Mutation SNP T T C rs77863699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:20563528T>C ENST00000329697.6 - 6 1000 c.832A>G c.(832-834)Aca>Gca p.T278A ACSM2B_ENST00000567001.1_Missense_Mutation_p.T278A|ACSM2B_ENST00000565232.1_Missense_Mutation_p.T278A|ACSM2B_ENST00000565322.1_Missense_Mutation_p.T199A|ACSM2B_ENST00000567288.1_5'UTR NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 278 NA fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GCTCCTAATGTCCAAGATTCC 0.433 NA N||| 755 0.150759 0.3298 0.0764 5008 , , NA 20930 0.1607 NA 0.0239 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 T ALA/THR,ALA/THR 1241,3161 428.5+/-341.9 179,883,1139 227 215 219 832,832 -6.2 0 16 dbSNP_131 219 204,8396 87.1+/-149.5 7,190,4103 yes missense,missense ACSM2B NM_001105069.1,NM_182617.3 58,58 186,1073,5242 CC,CT,TT 2.3721,28.1917,11.1137 benign,benign 278/578,278/578 20563528 1445,11557 2201 4300 6501 SO:0001583 missense AY160217 CCDS10586.1 16p12.3 2014-08-08 2007-06-20 2007-06-20 ENSG00000066813 ENSG00000066813 348158 Acyl-CoA synthetase family 30931 protein-coding gene gene with protein product xenobiotic/medium chain fatty acid:CoA ligase 614359 acyl-CoA synthetase medium-chain family member 2 ACSM2 NA 12616642 Standard NM_182617 NM_182617 NA Approved HXMA, HYST1046 uc002dhk.4 Q68CK6 OTTHUMG00000131555 ENST00000329697.6:c.832A>G chr16.hg19:g.20563528T>C ENSP00000327453:p.Thr278Ala NA Q86YT1 hg19 CCDS10586.1 0.02 19.856697 ATGxCCA COVERED 327 0.14972527472527472 179 0.3638211382113821 29 0.08011049723756906 103 0.18006993006993008 16 0.021108179419525065 t 0.028 -1.355636 0.01256 0.281917 0.023721 ENSG00000066813 ENST00000329697 T 0.39787 1.06 3.11 -6.23 0.02052 AMP-dependent synthetase/ligase (1); 1.059330 0.07463 N 0.900949 T 0.00012 0.0000 N 0.16656 0.425 0.20074 P 0.9999333274 B;B 0.02656 0.0;0.0 B;B 0.10450 0.005;0.005 T 0.34453 -0.9828 9 0.14252 T 0.57 1.3521 5.4608 0.16615 0.2372:0.4263:0.0:0.3365 . 278;278 A8K051;Q68CK6 .;ACS2B_HUMAN A 278 ENSP00000327453:T278A ENSP00000327453:T278A T - 1 0 ACSM2B 20471029 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.694000 0.00828 -2.587000 0.00458 -2.959000 0.00083 ACA NOVEL ACSM2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254417.2 2 18.353975 KEEP 0 0 0 61 1913 TT 1 1 0 - 14 60 525 0 0 31.974308 446 60 15946 671 ENST00000329697.6 0.030435 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 20607216 20607216 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:20607216G>A NA NA RP11-143N13.2 (9210 upstream) : ACSM1 (27342 downstream) NA NA NA CTGGGGTGGGGCCATGAAGAT 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.20607216G>A NA hg19 0.02 6.306069 GGGxCCA COVERED NOVEL 0 1 8.126224 KEEP 7 0 0 27 941 GG 0.999988 0.999988 0 14 27 475 0 0 32.530696 175 60 6396 236 0.074074 1 ZP2 7783 __UNKNOWN__ __UNKNOWN__ 16 21222596 21222596 __UNKNOWN__ Intron SNP C C A rs2075519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:21222596C>A ENST00000574002.1 - 3 634 ZP2_ENST00000219593.4_Intron|ZP2_ENST00000574091.1_Intron Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) NA NA binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338) endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141) acrosin binding (GO:0032190)|coreceptor activity (GO:0015026) NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GTTTTCTCTGCTAAGAAGACT 0.488 NA C||| 1486 0.296725 0.1959 0.2781 5008 , , NA 19425 0.373 NA 0.2545 False NA ,,, NA NA NA 2504 0.411 NA NA NA NA 0 C 840,3558 330.2+/-301.4 73,694,1432 79 80 80 -2.5 0 16 dbSNP_96 80 2060,6540 355.9+/-330.1 254,1552,2494 no intron ZP2 NM_003460.1 327,2246,3926 AA,AC,CC 23.9535,19.0996,22.3111 21222596 2900,10098 2199 4300 6499 SO:0001627 intron_variant M90366 CCDS10596.1, CCDS73843.1 16p12 2014-07-04 ENSG00000103310 ENSG00000103310 7783 Zona pellucida glycoproteins 13188 protein-coding gene gene with protein product 182888 NA 8385033 Standard XM_005255562 NA Approved ZPA uc002dii.2 Q05996 OTTHUMG00000090681 ENST00000574002.1:c.151+31G>T chr16.hg19:g.21222596C>A NA B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1 hg19 CCDS10596.1 0.02 4.17475 CTGxTAA COVERED NOVEL ZP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000207365.2 1 3.010016 KEEP 0 0 0 10 373 CC 0.992708 0.992708 0 - 6 60 221 0 0 14.269564 131 60 4907 163 ENST00000574002.1 0.043796 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 21514407 21514407 __UNKNOWN__ IGR SNP G G A rs148357742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:21514407G>A NA NA CTD-2547E10.2 (35926 upstream) : MIR3680-1 (2962 downstream) NA NA NA caggggaatcgcttgaaccca 0.502 NA G||| 27 0.00539137 0.0008 0.0101 5008 , , NA 26416 0.0 NA 0.0179 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.21514407G>A NA hg19 0.02 -0.114034 ATCxCTT UNCOVERED NOVEL 0 0 3.583325 KEEP 0 0 0 12 362 GG 0.993634 0.161432 0 3 60 103 0 0 8.681864 10 60 332 29 0.230769 0.162467 PDZD9 255762 __UNKNOWN__ __UNKNOWN__ 16 22012191 22012191 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:22012191G>A ENST00000424898.2 - 1 94 PDZD9_ENST00000286143.6_Intron|PDZD9_ENST00000537222.2_Intron Q8IXQ8 PDZD9_HUMAN PDZ domain containing 9 NA NA breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 tgatgatgatgatgataatga 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039562 CCDS10602.1, CCDS10602.2 16p12.1 2010-04-14 2010-04-14 2010-04-14 ENSG00000155714 ENSG00000155714 255762 28740 protein-coding gene gene with protein product chromosome 16 open reading frame 65 C16orf65 NA 12477932 Standard NM_173806 NM_173806 NA Approved MGC50721 uc021ter.1 Q8IXQ8 OTTHUMG00000131586 ENST00000424898.2:c.31+146C>T chr16.hg19:g.22012191G>A NA F5GWW8 hg19 0.02 1.963076 GATxATG COVERED NOVEL PDZD9-003 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000381652.1 4 6.554178 KEEP 0 1 26 31 1053 GG 0.999997 0.999905 0 - 4 60 150 1 0 9.746324 89 60 3356 146 ENST00000424898.2 0.043011 0.999907 VWA3A 146177 __UNKNOWN__ __UNKNOWN__ 16 22111704 22111704 __UNKNOWN__ Intron SNP G G A rs72640484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:22111704G>A ENST00000389398.5 + 5 446 VWA3A_ENST00000389397.4_Intron NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A NA NA extracellular region (GO:0005576) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) CCCTGGGCCCGAGAGATCCCC 0.547 NA G||| 517 0.103235 0.0 0.0086 5008 , , NA 17254 0.4325 NA 0.0129 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 G 5,1379 0,5,687 81 77 78 -9.9 0 16 dbSNP_130 78 25,3157 0,25,1566 no intron VWA3A NM_173615.3 0,30,2253 AA,AG,GG 0.7857,0.3613,0.657 22111704 30,4536 692 1591 2283 SO:0001627 intron_variant AK128606, AK098260 CCDS45441.1 16p12.1 2008-02-05 ENSG00000175267 146177 27088 protein-coding gene gene with protein product NA 12477932 Standard XM_006721021 NA Approved FLJ46765, FLJ40941 uc010vbq.2 A6NCI4 ENST00000389398.5:c.351-33G>A chr16.hg19:g.22111704G>A NA A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1 hg19 CCDS45441.1 0.02 8.42769 CCCxAGA COVERED NOVEL VWA3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430052.1 1 2.941884 KEEP 0 1 29 20 637 GG 0.999869 0.999869 0 + 10 60 354 0 0 22.785012 197 60 6683 254 ENST00000389398.5 0.048309 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 22553019 22553019 __UNKNOWN__ IGR SNP G G T rs76290205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:22553019G>T NA NA NPIPB5 (5185 upstream) : RP11-368J21.3 (3999 downstream) NA NA NA ACTTGGTCTGGAGCAGAGACT 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.22553019G>T NA hg19 0.02 6.070835 CTGxAGC COVERED NOVEL 0 3 2.743647 KEEP 24 1 31 20 699 GG 0.999863 0.999863 0 15 49 538 0 0 38.066959 178 50 6488 273 0.07772 1 RP11-368J21.3 0 __UNKNOWN__ __UNKNOWN__ 16 22588015 22588015 __UNKNOWN__ RNA SNP A A G rs460493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:22588015A>G ENST00000550753.1 + 0 2490 NR_003676.2 NA NA NA TGGCCTGAGCACATCGTCCTG 0.557 NA G||| 7 0.00139776 0.0015 0.0 5008 , , NA 24848 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000550753.1: chr16.hg19:g.22588015A>G NA hg19 0.02 13.634069 AGCxCAT COVERED NOVEL RP11-368J21.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409041.1 1 9.561193 KEEP 18 1 35 44 1341 AA 1 1 0 + 19 27 695 0 0 47.628859 288 60 10109 423 ENST00000550753.1 0.061889 1 RP11-368J21.3 0 __UNKNOWN__ __UNKNOWN__ 16 22588087 22588087 __UNKNOWN__ RNA SNP G G C rs371946225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:22588087G>C ENST00000550753.1 + 0 2562 NR_003676.2 NA NA NA GTGGGACACCGTTCCCTGGAT 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000550753.1: chr16.hg19:g.22588087G>C NA hg19 0.02 10.996743 ACCxTTC COVERED NOVEL RP11-368J21.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000409041.1 3 2.915767 KEEP 17 3 107 47 1606 GG 1 1 0 + 15 27 528 0 0 34.891377 252 60 9131 410 ENST00000550753.1 0.05618 1 HS3ST2 9956 __UNKNOWN__ __UNKNOWN__ 16 22826339 22826339 __UNKNOWN__ Silent SNP A A G rs208951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:22826339A>G ENST00000261374.3 + 1 842 c.408A>G c.(406-408)gtA>gtG p.V136V NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 136 NA carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146) breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TTATCCGAGTACACCCGGACG 0.642 NA G||| 2053 0.409944 0.5393 0.4741 5008 , , NA 13709 0.3571 NA 0.3688 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 G 2219,2135 595,1029,553 18 22 20 408 3.1 1 16 dbSNP_79 20 3139,5409 615,1909,1750 no coding-synonymous HS3ST2 NM_006043.1 1210,2938,2303 GG,GA,AA 36.722,49.0354,41.5284 136/368 22826339 5358,7544 2177 4274 6451 SO:0001819 synonymous_variant AF105374 CCDS10606.1 16p12 2008-02-05 ENSG00000122254 ENSG00000122254 9956 2.8.2.23 Sulfotransferases, membrane-bound 5195 protein-coding gene gene with protein product 604056 NA 9988767 Standard NM_006043 NM_006043 NA Approved 3OST2 uc002dli.3 Q9Y278 OTTHUMG00000094785 ENST00000261374.3:c.408A>G chr16.hg19:g.22826339A>G NA Q52LZ1 hg19 CCDS10606.1 0.02 12.675295 AGTxCAC COVERED NOVEL HS3ST2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211598.1 1 5.148838 KEEP 0 1 37 30 876 AA 0.999997 0.999997 0 + 12 60 427 0 0 25.794616 336 60 11220 463 ENST00000261374.3 0.034483 1 USP31 57478 __UNKNOWN__ __UNKNOWN__ 16 23078857 23078857 __UNKNOWN__ 3'UTR SNP C C T rs78738509 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:23078857C>T ENST00000219689.7 - 0 4568 NM_020718.3 NP_065769.3 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 31 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) ubiquitin-specific protease activity (GO:0004843) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) GGCGAAAGTGCAGAAAGCAAG 0.433 NA C||| 64 0.0127796 0.0 0.0 5008 , , NA 20457 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033029 CCDS10607.1 16p12.3 2008-02-05 2005-08-08 ENSG00000103404 ENSG00000103404 57478 Ubiquitin-specific peptidases 20060 protein-coding gene gene with protein product ubiquitin specific protease 31 NA 12838346 Standard NM_020718 NM_020718 NA Approved KIAA1203 uc002dll.3 Q70CQ4 OTTHUMG00000094793 ENST00000219689.7:c.*510G>A chr16.hg19:g.23078857C>T NA B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0 hg19 CCDS10607.1 0.02 6.220222 GTGxAGA COVERED NOVEL USP31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000211607.1 1 7.223682 KEEP 0 0 0 24 866 CC 0.999909 0.999909 0 - 6 60 222 0 0 13.70281 170 60 6362 232 ENST00000219689.7 0.034091 1 SCNN1B 6338 __UNKNOWN__ __UNKNOWN__ 16 23364081 23364081 __UNKNOWN__ Intron SNP A A C rs63982 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:23364081A>C ENST00000568923.1 + 2 319 SCNN1B_ENST00000307331.5_Intron|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000569789.1_Intron|SCNN1B_ENST00000343070.2_Intron P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit NA NA excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706) ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699) breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGCTTTACAGATATGCATTCC 0.448 NA A||| 1790 0.357428 0.211 0.1614 5008 , , NA 20155 0.6716 NA 0.2197 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 A 981,3413 356.6+/-313.6 115,751,1331 55 57 57 1.9 0 16 dbSNP_80 57 1774,6826 307.8+/-308.6 177,1420,2703 no intron SCNN1B NM_000336.2 292,2171,4034 CC,CA,AA 20.6279,22.3259,21.2021 23364081 2755,10239 2197 4300 6497 SO:0001627 intron_variant X87159 CCDS10609.1 16p12.2-p12.1 2012-02-28 2012-02-28 ENSG00000168447 ENSG00000168447 6338 Ion channels / Sodium channel, nonvoltage-gated, Sodium channels 10600 protein-coding gene gene with protein product Liddle syndrome 600760 sodium channel, nonvoltage-gated 1, beta, sodium channel, non-voltage-gated 1, beta NA Standard NM_000336 NA Approved ENaCbeta uc002dln.3 P51168 OTTHUMG00000131608 ENST00000568923.1:c.312-41A>C chr16.hg19:g.23364081A>C NA C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5 hg19 0.02 2.189005 CAGxTAT COVERED NOVEL SCNN1B-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000434813.1 0 2.407641 KEEP 0 0 0 8 265 AA 0.99257 0.992433 0 + 4 60 150 0 0 9.784656 87 60 3129 111 ENST00000568923.1 0.043956 0.999862 RBBP6 5930 __UNKNOWN__ __UNKNOWN__ 16 24582299 24582299 __UNKNOWN__ Silent SNP C C G rs7196736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:24582299C>G ENST00000319715.4 + 18 4344 c.3912C>G c.(3910-3912)acC>acG p.T1304T RBBP6_ENST00000348022.2_Silent_p.T1270T|RBBP6_ENST00000381039.3_Silent_p.T464T NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1304 NA embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053) chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) ATGACAATACCGCGCCAGCTG 0.393 NA G||| 641 0.127995 0.149 0.1585 5008 , , NA 16201 0.0149 NA 0.1402 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 G , 712,3682 755.0+/-412.5 57,598,1542 55 53 54 3912,3810 -3.1 0.5 16 dbSNP_116 54 1472,7128 747.2+/-407.3 128,1216,2956 no coding-synonymous,coding-synonymous RBBP6 NM_006910.4,NM_018703.3 , 185,1814,4498 GG,GC,CC 17.1163,16.2039,16.8078 , 1304/1793,1270/1759 24582299 2184,10810 2197 4300 6497 SO:0001819 synonymous_variant CCDS10621.1, CCDS10622.1, CCDS45444.1 16p12.2 2008-08-04 2001-11-28 ENSG00000122257 ENSG00000122257 5930 9889 protein-coding gene gene with protein product proliferation potential-related protein 600938 retinoblastoma-binding protein 6 NA 8595913, 16396680 Standard NM_006910 NM_006910 NA Approved P2P-R, PACT, SNAMA uc002dmh.3 Q7Z6E9 OTTHUMG00000096991 ENST00000319715.4:c.3912C>G chr16.hg19:g.24582299C>G NA Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4 hg19 CCDS10621.1 0.02 7.778086 TACxGCG COVERED NOVEL RBBP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214067.2 2 26.183237 KEEP 0 0 0 87 2942 CC 1 1 0 + 8 60 262 0 0 14.719121 240 60 8406 411 ENST00000319715.4 0.032258 1 RBBP6 5930 __UNKNOWN__ __UNKNOWN__ 16 24584131 24584131 __UNKNOWN__ 3'UTR SNP A A T rs11550905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:24584131A>T ENST00000319715.4 + 0 6176 RBBP6_ENST00000348022.2_3'UTR|RBBP6_ENST00000381039.3_3'UTR NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 NA NA embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053) chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) ATTCATTACAACCCTGTTATG 0.279 NA A||| 546 0.109026 0.0756 0.0951 5008 , , NA 18078 0.0744 NA 0.1521 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10621.1, CCDS10622.1, CCDS45444.1 16p12.2 2008-08-04 2001-11-28 ENSG00000122257 ENSG00000122257 5930 9889 protein-coding gene gene with protein product proliferation potential-related protein 600938 retinoblastoma-binding protein 6 NA 8595913, 16396680 Standard NM_006910 NM_006910 NA Approved P2P-R, PACT, SNAMA uc002dmh.3 Q7Z6E9 OTTHUMG00000096991 ENST00000319715.4:c.*365A>T chr16.hg19:g.24584131A>T NA Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4 hg19 CCDS10621.1 0.02 3.990975 ACAxCCC COVERED NOVEL RBBP6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214067.2 0 4.213003 KEEP 0 0 0 14 453 AA 0.99649 0.996459 0 + 7 60 239 0 0 16.202475 94 60 3242 135 ENST00000319715.4 0.069307 0.999968 ARHGAP17 55114 __UNKNOWN__ __UNKNOWN__ 16 24950947 24950947 __UNKNOWN__ Intron SNP A A G rs201096033 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:24950947A>G ENST00000289968.6 - 17 1560 ARHGAP17_ENST00000441763.2_Intron|ARHGAP17_ENST00000303665.5_Intron NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923) GTPase activator activity (GO:0005096) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CAGTCAACACACCATGCGAGC 0.537 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 20682 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ306731 CCDS32408.1, CCDS32409.1 16p12.2-p12.1 2011-06-29 ENSG00000140750 55114 Rho GTPase activating proteins 18239 protein-coding gene gene with protein product 608293 NA 10967100, 11431473 Standard NM_018054 XM_005255413 NA Approved RICH1, FLJ10308, NADRIN, FLJ13219, WBP15 uc002dnb.3 Q68EM7 ENST00000289968.6:c.1491-29T>C chr16.hg19:g.24950947A>G NA A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54 hg19 CCDS32409.1 0.02 8.257074 CACxCCA COVERED NOVEL ARHGAP17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436548.3 1 13.236836 KEEP 0 0 0 44 1339 AA 1 1 0 - 8 60 259 0 0 14.561258 231 60 8204 366 ENST00000289968.6 0.033473 1 LCMT1 51451 __UNKNOWN__ __UNKNOWN__ 16 25137562 25137562 __UNKNOWN__ Intron SNP C C T rs59802404 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:25137562C>T ENST00000399069.3 + 2 268 LCMT1_ENST00000380966.4_Intron NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 NA NA C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) cytosol (GO:0005829) protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757) NA GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) ACTGTGACCACGGACAGGGTG 0.607 NA NA NA NA NA NA NA NA NA NA Colon(200;565 2072 24396 47922 50898) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF037601 CCDS45445.1, CCDS45446.1 16p12.1 2014-08-01 ENSG00000205629 ENSG00000205629 51451 17557 protein-coding gene gene with protein product protein phosphatase methyltransferase 1 610286 NA 10810093 Standard NM_016309 XM_005255354 NA Approved CGI-68, PPMT1 uc002dnx.1 Q9UIC8 OTTHUMG00000177182 ENST00000399069.3:c.114-2234C>T chr16.hg19:g.25137562C>T NA A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378 hg19 CCDS45445.1 0.02 2.061751 CCAxGGA COVERED NOVEL LCMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435747.4 0 2.707745 KEEP 0 0 0 9 277 CC 0.99254 0.980573 0 + 5 46 177 0 0 12.614041 55 60 1765 72 ENST00000399069.3 0.083333 0.987943 KDM8 79831 __UNKNOWN__ __UNKNOWN__ 16 27226437 27226437 __UNKNOWN__ Intron SNP G G T rs57352909|rs8054431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27226437G>T ENST00000286096.4 + 4 971 KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_Intron|KDM8_ENST00000441782.2_Intron|KDM8_ENST00000380948.2_Intron NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872) NA GAGGAGCCAGGCTGTAAGTCT 0.532 NA T||| 2139 0.427117 0.5809 0.2709 5008 , , NA 19848 0.4266 NA 0.3748 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023860 CCDS10627.1, CCDS45448.1 16p12.1 2012-03-28 2012-03-28 2012-03-28 ENSG00000155666 ENSG00000155666 79831 Chromatin-modifying enzymes / K-demethylases 25840 protein-coding gene gene with protein product 611917 jumonji domain containing 5 JMJD5 NA 20457893 Standard NM_024773 NM_024773 NA Approved FLJ13798 uc010vcn.1 Q8N371 OTTHUMG00000131677 ENST00000286096.4:c.798+108G>T chr16.hg19:g.27226437G>T NA B4DLU9|Q6VAK5|Q9H8B1 hg19 CCDS10627.1 0.02 8.35733 CAGxCTG COVERED NOVEL KDM8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254580.3 0 4.815836 KEEP 0 0 0 16 578 GG 0.997832 0.997832 0 + 8 60 294 0 0 18.363155 208 60 7829 252 ENST00000286096.4 0.037037 1 KDM8 79831 __UNKNOWN__ __UNKNOWN__ 16 27227122 27227122 __UNKNOWN__ Intron SNP T T C rs7405158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27227122T>C ENST00000286096.4 + 5 971 KDM8_ENST00000568965.1_Intron|KDM8_ENST00000567785.1_Intron|KDM8_ENST00000441782.2_Intron|KDM8_ENST00000380948.2_Intron NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 NA NA G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872) NA CCAGGGCCTCTAAGGGTTGGA 0.542 NA T||| 1941 0.38758 0.438 0.2579 5008 , , NA 18341 0.4296 NA 0.3728 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK023860 CCDS10627.1, CCDS45448.1 16p12.1 2012-03-28 2012-03-28 2012-03-28 ENSG00000155666 ENSG00000155666 79831 Chromatin-modifying enzymes / K-demethylases 25840 protein-coding gene gene with protein product 611917 jumonji domain containing 5 JMJD5 NA 20457893 Standard NM_024773 NM_024773 NA Approved FLJ13798 uc010vcn.1 Q8N371 OTTHUMG00000131677 ENST00000286096.4:c.799-144T>C chr16.hg19:g.27227122T>C NA B4DLU9|Q6VAK5|Q9H8B1 hg19 CCDS10627.1 0.02 6.559853 CTCxAAG COVERED NOVEL KDM8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254580.3 0 2.707384 KEEP 0 0 0 9 265 TT 0.99254 0.99254 0 + 7 60 243 0 0 15.184232 153 60 5708 180 ENST00000286096.4 0.04375 1 NSMCE1 197370 __UNKNOWN__ __UNKNOWN__ 16 27236403 27236403 __UNKNOWN__ 3'UTR SNP G G A rs2958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27236403G>A ENST00000361439.4 - 0 975 NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) NA NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(3) 7 CCTGAAACACGGACGCCTTTC 0.572 NA G||| 1649 0.329273 0.23 0.2349 5008 , , NA 21507 0.4633 NA 0.3489 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF161451 CCDS10628.2 16p12.1 2010-03-23 2006-07-05 ENSG00000169189 ENSG00000169189 197370 29897 protein-coding gene gene with protein product NA 11927594 Standard NM_145080 XM_005255163 NA Approved NSE1 uc002doi.1 Q8WV22 OTTHUMG00000131674 ENST00000361439.4:c.*75C>T chr16.hg19:g.27236403G>A NA D3DWF6|Q9P045|Q9P049 hg19 CCDS10628.2 0.02 8.514859 CACxGAC COVERED NOVEL NSMCE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254577.3 2 12.173298 KEEP 0 1 30 51 1748 GG 1 1 0 - 9 70 322 0 0 20.168015 212 70 7106 341 ENST00000361439.4 0.040724 1 NSMCE1 197370 __UNKNOWN__ __UNKNOWN__ 16 27238034 27238034 __UNKNOWN__ Intron SNP C C T rs34940876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27238034C>T ENST00000361439.4 - 6 700 NSMCE1_ENST00000565384.1_Intron NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) NA NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(3) 7 CCCTGCCCTGCGGGTACCTGG 0.647 NA C||| 1583 0.316094 0.1747 0.2334 5008 , , NA 20512 0.4663 NA 0.3519 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 C 757,3281 65,627,1327 70 79 76 -1 0 16 dbSNP_126 76 2867,5461 510,1847,1807 no intron NSMCE1 NM_145080.3 575,2474,3134 TT,TC,CC 34.426,18.7469,29.3062 27238034 3624,8742 2019 4164 6183 SO:0001627 intron_variant AF161451 CCDS10628.2 16p12.1 2010-03-23 2006-07-05 ENSG00000169189 ENSG00000169189 197370 29897 protein-coding gene gene with protein product NA 11927594 Standard NM_145080 XM_005255163 NA Approved NSE1 uc002doi.1 Q8WV22 OTTHUMG00000131674 ENST00000361439.4:c.600+6G>A chr16.hg19:g.27238034C>T NA D3DWF6|Q9P045|Q9P049 hg19 CCDS10628.2 0.02 4.240568 CTGxGGG COVERED NOVEL NSMCE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254577.3 1 7.52428 KEEP 0 0 0 25 883 CC 0.999931 0.999929 0 - 6 60 219 0 0 14.465644 112 60 4099 171 ENST00000361439.4 0.050847 0.999998 NSMCE1 197370 __UNKNOWN__ __UNKNOWN__ 16 27269023 27269023 __UNKNOWN__ Intron SNP T T C rs7201652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27269023T>C ENST00000361439.4 - 2 89 NM_145080.3 NP_659547.2 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog (S. cerevisiae) NA NA DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(2)|large_intestine(2)|lung(3) 7 TCATTCTTCATGCTGTTTACT 0.413 NA T||| 1629 0.32528 0.2398 0.1902 5008 , , NA 21751 0.4296 NA 0.33 False NA ,,, NA NA NA 2504 0.4243 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161451 CCDS10628.2 16p12.1 2010-03-23 2006-07-05 ENSG00000169189 ENSG00000169189 197370 29897 protein-coding gene gene with protein product NA 11927594 Standard NM_145080 XM_005255163 NA Approved NSE1 uc002doi.1 Q8WV22 OTTHUMG00000131674 ENST00000361439.4:c.11-121A>G chr16.hg19:g.27269023T>C NA D3DWF6|Q9P045|Q9P049 hg19 CCDS10628.2 0.02 5.781283 TCAxGCT COVERED NOVEL NSMCE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254577.3 4 15.042847 KEEP 0 0 0 50 1548 TT 1 1 0 - 10 60 333 0 0 21.024517 182 60 6599 256 ENST00000361439.4 0.052083 1 IL4R 3566 __UNKNOWN__ __UNKNOWN__ 16 27373558 27373558 __UNKNOWN__ Intron SNP C C A rs3024676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27373558C>A ENST00000395762.2 + 11 1158 IL4R_ENST00000170630.2_Intron|IL4R_ENST00000565915.1_Intron|IL4R_ENST00000380922.3_Intron|IL4R_ENST00000543915.2_Intron NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor NA NA defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CCCTGACCAACCTTTGCTTTT 0.458 NA A||| 1406 0.280751 0.711 0.1873 5008 , , NA 21727 0.0823 NA 0.1541 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 A 2614,1780 524.9+/-371.5 778,1058,361 72 82 78 1.1 0 16 dbSNP_102 78 1411,7189 753.2+/-407.4 114,1183,3003 no intron IL4R NM_000418.2 892,2241,3364 AA,AC,CC 16.407,40.5098,30.9758 27373558 4025,8969 2197 4300 6497 SO:0001627 intron_variant X52425 CCDS10629.1, CCDS58441.1 16p12.1-p11.2 2008-05-14 ENSG00000077238 ENSG00000077238 3566 Interleukins and interleukin receptors, CD molecules 6015 protein-coding gene gene with protein product 147781 NA 1679753 Standard NM_000418 NA Approved CD124 uc010bxy.4 P24394 OTTHUMG00000097015 ENST00000395762.2:c.900-15C>A chr16.hg19:g.27373558C>A NA B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188 hg19 CCDS10629.1 0.02 15.058274 CAAxCTT COVERED NOVEL IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214104.4 2 5.722425 KEEP 0 3 91 51 1813 CC 1 1 0 + 12 60 440 0 0 26.918627 346 60 12799 509 ENST00000395762.2 0.03352 1 IL4R 3566 __UNKNOWN__ __UNKNOWN__ 16 27373872 27373872 __UNKNOWN__ Missense_Mutation SNP A A C rs1805011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27373872A>C ENST00000395762.2 + 11 1458 c.1199A>C c.(1198-1200)gAg>gCg p.E400A IL4R_ENST00000170630.2_Missense_Mutation_p.E400A|IL4R_ENST00000380922.3_Missense_Mutation_p.E385A|IL4R_ENST00000543915.2_Missense_Mutation_p.E400A NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 400 NA E -> A (associated with cedar pollen sensitization; dbSNP:rs1805011). {ECO:0000269|PubMed:11285129, ECO:0000269|PubMed:14657871, ECO:0000269|PubMed:9070874, ECO:0000269|Ref.5}. defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057) p.E400A(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GAGGGAAGGGAGGGCATTGTG 0.597 NA A||| 1184 0.236422 0.6218 0.1599 5008 , , NA 20414 0.0833 NA 0.1064 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 1 Substitution - Missense(1) stomach(1) GRCh37 CM993665 IL4R M rs1805011 A ALA/GLU 2307,2087 602.3+/-389.9 600,1107,490 69 71 70 1199 0.2 0.1 16 dbSNP_89 70 961,7639 208.6+/-250.0 61,839,3400 yes missense IL4R NM_000418.2 107 661,1946,3890 CC,CA,AA 11.1744,47.4966,25.1501 possibly-damaging 400/826 27373872 3268,9726 2197 4300 6497 SO:0001583 missense X52425 CCDS10629.1, CCDS58441.1 16p12.1-p11.2 2008-05-14 ENSG00000077238 ENSG00000077238 3566 Interleukins and interleukin receptors, CD molecules 6015 protein-coding gene gene with protein product 147781 NA 1679753 Standard NM_000418 NA Approved CD124 uc010bxy.4 P24394 OTTHUMG00000097015 ENST00000395762.2:c.1199A>C chr16.hg19:g.27373872A>C ENSP00000379111:p.Glu400Ala NA B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188 hg19 CCDS10629.1 0.02 6.106147 GGGxGGG COVERED 488 0.22344322344322345 298 0.6056910569105691 63 0.17403314917127072 42 0.07342657342657342 85 0.11213720316622691 A 4.095 0.015726 0.07959 0.525034 0.111744 ENSG00000077238 ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630 T;T;T;T 0.11495 2.77;2.77;2.77;2.77 5.42 0.212 0.15240 . 24.689100 0.00589 N 0.000344 T 0.00012 0.0000 L 0.43923 1.385 0.80722 P 0.0 B;B;B 0.33857 0.429;0.429;0.429 B;B;B 0.24006 0.05;0.05;0.05 T 0.46512 -0.9186 9 0.22706 T 0.39 -15.7238 7.3209 0.26528 0.3929:0.4658:0.0:0.1414 rs1805011;rs17548775;rs58115555;rs1805011 385;400;400 B4E076;B9EGC0;P24394 .;.;IL4RA_HUMAN A 400;400;385;400 ENSP00000379111:E400A;ENSP00000441667:E400A;ENSP00000370309:E385A;ENSP00000170630:E400A ENSP00000170630:E400A E + 2 0 IL4R 27281373 0.993000 0.37304 0.092000 0.20876 0.093000 0.18481 0.330000 0.19715 -0.253000 0.09514 -0.336000 0.08194 GAG NOVEL IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214104.4 1 8.124423 KEEP 0 0 0 27 861 AA 0.999988 0.999988 0 + 7 60 227 0 0 13.713447 147 60 5332 218 ENST00000395762.2 0.045455 1 IL4R 3566 __UNKNOWN__ __UNKNOWN__ 16 27373915 27373915 __UNKNOWN__ Silent SNP G G T rs2234898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27373915G>T ENST00000395762.2 + 11 1501 c.1242G>T c.(1240-1242)ctG>ctT p.L414L IL4R_ENST00000170630.2_Silent_p.L414L|IL4R_ENST00000380922.3_Silent_p.L399L|IL4R_ENST00000543915.2_Silent_p.L414L NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 414 NA defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057) p.L414L(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TCCTGGACCTGCTCGGAGAGG 0.592 NA G||| 1180 0.235623 0.6225 0.1599 5008 , , NA 20234 0.0774 NA 0.1064 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 2304,2090 601.6+/-389.7 600,1104,493 67 69 69 1242 -0.4 0.4 16 dbSNP_98 69 956,7644 208.2+/-249.7 59,838,3403 no coding-synonymous IL4R NM_000418.2 659,1942,3896 TT,TG,GG 11.1163,47.5649,25.0885 414/826 27373915 3260,9734 2197 4300 6497 SO:0001819 synonymous_variant X52425 CCDS10629.1, CCDS58441.1 16p12.1-p11.2 2008-05-14 ENSG00000077238 ENSG00000077238 3566 Interleukins and interleukin receptors, CD molecules 6015 protein-coding gene gene with protein product 147781 NA 1679753 Standard NM_000418 NA Approved CD124 uc010bxy.4 P24394 OTTHUMG00000097015 ENST00000395762.2:c.1242G>T chr16.hg19:g.27373915G>T NA B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188 hg19 CCDS10629.1 0.02 5.627996 CCTxCTC COVERED NOVEL IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214104.4 1 8.427599 KEEP 0 0 0 28 996 GG 0.999997 0.999997 0 + 6 60 209 0 0 12.108286 191 60 7261 262 ENST00000395762.2 0.030457 1 IL4R 3566 __UNKNOWN__ __UNKNOWN__ 16 27374180 27374180 __UNKNOWN__ Missense_Mutation SNP T T C rs1805015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:27374180T>C ENST00000395762.2 + 11 1766 c.1507T>C c.(1507-1509)Tcc>Ccc p.S503P IL4R_ENST00000170630.2_Missense_Mutation_p.S503P|IL4R_ENST00000380922.3_Missense_Mutation_p.S488P|IL4R_ENST00000543915.2_Missense_Mutation_p.S503P NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 503 Required for IRS1 activation and IL4- induced cell growth. NA S -> P (lowered total IgE concentration; dbSNP:rs1805015). {ECO:0000269|PubMed:10233717, ECO:0000269|PubMed:11285129, ECO:0000269|Ref.5}. defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235) interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTTCAGCAACTCCCTGAGCCA 0.622 NA T||| 1010 0.201677 0.4251 0.1614 5008 , , NA 19105 0.0843 NA 0.1521 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 GRCh37 CM993667 IL4R M rs1805015 T PRO/SER 1595,2799 491.1+/-362.0 292,1011,894 78 83 81 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1507 1.6 0 16 dbSNP_89 81 1391,7209 265.3+/-286.1 110,1171,3019 yes missense IL4R NM_000418.2 74 402,2182,3913 CC,CT,TT 16.1744,36.2995,22.9798 possibly-damaging 503/826 27374180 2986,10008 2197 4300 6497 SO:0001583 missense X52425 CCDS10629.1, CCDS58441.1 16p12.1-p11.2 2008-05-14 ENSG00000077238 ENSG00000077238 3566 Interleukins and interleukin receptors, CD molecules 6015 protein-coding gene gene with protein product 147781 NA 1679753 Standard NM_000418 NA Approved CD124 uc010bxy.4 P24394 OTTHUMG00000097015 ENST00000395762.2:c.1507T>C chr16.hg19:g.27374180T>C ENSP00000379111:p.Ser503Pro NA B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188 hg19 CCDS10629.1 0.02 13.613514 AACxCCC COVERED 458 0.2097069597069597 227 0.4613821138211382 62 0.1712707182320442 43 0.07517482517482517 126 0.1662269129287599 T 12.87 2.068150 0.36470 0.362995 0.161744 ENSG00000077238 ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630 T;T;T;T 0.09255 3.0;3.0;3.0;3.0 4.99 1.57 0.23409 . 10.161500 0.00166 N 0.000000 T 0.00012 0.0000 L 0.36672 1.1 0.80722 P 0.0 P;P;P 0.36144 0.539;0.539;0.539 B;B;B 0.31016 0.123;0.123;0.123 T 0.45056 -0.9287 9 0.33141 T 0.24 . 6.2127 0.20638 0.0:0.2856:0.0:0.7143 rs1805015;rs17513769;rs60163518;rs1805015 488;503;503 B4E076;B9EGC0;P24394 .;.;IL4RA_HUMAN P 503;503;488;503 ENSP00000379111:S503P;ENSP00000441667:S503P;ENSP00000370309:S488P;ENSP00000170630:S503P ENSP00000170630:S503P S + 1 0 IL4R 27281681 0.000000 0.05858 0.001000 0.08648 0.081000 0.17604 0.118000 0.15605 0.762000 0.33152 0.459000 0.35465 TCC NOVEL IL4R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214104.4 1 17.889329 KEEP 0 1 33 71 2264 TT 1 1 0 + 9 60 341 0 0 20.583027 312 60 11298 474 ENST00000395762.2 0.028037 1 SULT1A1 6817 __UNKNOWN__ __UNKNOWN__ 16 28620800 28620800 __UNKNOWN__ Intron SNP C C G rs3760091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:28620800C>G ENST00000314752.7 - 1 77 SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000395609.1_Intron NM_001055.3|NM_177529.2 NP_001046.2|NP_803565.1 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 NA NA 3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146) endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2) 16 Acetaminophen(DB00316)|Tamoxifen(DB00675) AGCAAAAGCACAggcctaggc 0.567 NA .||| 1806 0.360623 0.3464 0.3372 5008 , , NA 23039 0.3611 NA 0.4463 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U52852 CCDS10637.1, CCDS32420.1 16p12.1 2008-02-05 ENSG00000196502 ENSG00000196502 6817 2.8.2.1 Sulfotransferases, cytosolic 11453 protein-coding gene gene with protein product 171150 STP, STP1 NA 8288252, 8912648 Standard NM_001055 NM_177534 NA Approved P-PST uc002dqj.3 P50225 OTTHUMG00000131765 ENST00000314752.7:c.3+451G>C chr16.hg19:g.28620800C>G NA Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7 hg19 CCDS32420.1 0.02 7.158976 GCAxAGG COVERED NOVEL SULT1A1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254694.2 4 8.06253 KEEP 0 1 35 39 1398 CC 1 1 0 - 10 60 374 0 0 25.930654 150 60 5716 260 ENST00000314752.7 0.0625 1 NFATC2IP 84901 __UNKNOWN__ __UNKNOWN__ 16 28967423 28967423 __UNKNOWN__ Intron SNP C C T rs73533880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:28967423C>T ENST00000320805.4 + 4 734 NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein NA NA cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 GAGGGCAATCCGGGAGGGTGG 0.587 NA C||| 1052 0.210064 0.292 0.0764 5008 , , NA 18856 0.2361 NA 0.0119 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 C 1059,3335 387.9+/-326.7 110,839,1248 59 53 55 -9.6 0 16 dbSNP_130 55 96,8504 52.7+/-113.3 0,96,4204 no intron NFATC2IP NM_032815.3 110,935,5452 TT,TC,CC 1.1163,24.101,8.8887 28967423 1155,11839 2197 4300 6497 SO:0001627 intron_variant AK074761 CCDS10645.1 16p11.2 2010-09-13 ENSG00000176953 ENSG00000176953 84901 25906 protein-coding gene gene with protein product 614525 NA 15698469 Standard NM_032815 NM_032815 NA Approved FLJ14639, NIP45, RAD60, ESC2 uc002dru.3 Q8NCF5 OTTHUMG00000097763 ENST00000320805.4:c.659+44C>T chr16.hg19:g.28967423C>T NA B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9 hg19 CCDS10645.1 0.02 8.91719 ATCxGGG COVERED NOVEL NFATC2IP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214999.2 2 13.214779 KEEP 0 0 0 44 1472 CC 1 1 0 + 11 60 376 0 0 23.866307 221 60 7575 327 ENST00000320805.4 0.047414 1 NFATC2IP 84901 __UNKNOWN__ __UNKNOWN__ 16 28976054 28976054 __UNKNOWN__ 3'UTR SNP T T A rs549139017 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:28976054T>A ENST00000320805.4 + 0 2205 RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_3'UTR NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein NA NA cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 ataggtcttatgctgttttca 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074761 CCDS10645.1 16p11.2 2010-09-13 ENSG00000176953 ENSG00000176953 84901 25906 protein-coding gene gene with protein product 614525 NA 15698469 Standard NM_032815 NM_032815 NA Approved FLJ14639, NIP45, RAD60, ESC2 uc002dru.3 Q8NCF5 OTTHUMG00000097763 ENST00000320805.4:c.*870T>A chr16.hg19:g.28976054T>A NA B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9 hg19 CCDS10645.1 0.02 5.845307 TTAxGCT COVERED NOVEL NFATC2IP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000214999.2 2 4.212444 KEEP 0 0 0 14 429 TT 0.995343 0.995343 0 + 6 60 220 0 0 13.218855 190 60 6940 225 ENST00000320805.4 0.030612 1 LAT 27040 __UNKNOWN__ __UNKNOWN__ 16 28997270 28997270 __UNKNOWN__ Intron SNP T T C rs41280846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:28997270T>C ENST00000395461.3 + 4 307 LAT_ENST00000564277.1_Intron|LAT_ENST00000354453.4_Intron|LAT_ENST00000566177.1_Intron|LAT_ENST00000563964.1_Intron|LAT_ENST00000454369.2_Intron|LAT_ENST00000395456.2_Intron|LAT_ENST00000360872.5_Intron|RP11-264B17.3_ENST00000569969.1_RNA NM_001014989.1 NP_001014989.2 O43561 LAT_HUMAN linker for activation of T cells NA NA blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852) cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070) large_intestine(2)|lung(3)|urinary_tract(1) 6 Hepatocellular(780;0.244) GGTGTGGGAGTGAGCGTGAAC 0.627 NA T||| 1700 0.339457 0.7163 0.1124 5008 , , NA 15799 0.2659 NA 0.0119 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 T ,,, 815,569 233,349,110 59 62 61 ,,, -5.3 0 16 dbSNP_127 61 45,3137 0,45,1546 no intron,intron,intron,intron LAT NM_001014987.1,NM_001014988.1,NM_001014989.1,NM_014387.3 ,,, 233,394,1656 CC,CT,TT 1.4142,41.1127,18.8349 ,,, ,,, 28997270 860,3706 692 1591 2283 SO:0001627 intron_variant AF036905 CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1 16q13 2011-11-01 ENSG00000213658 ENSG00000213658 27040 18874 protein-coding gene gene with protein product linker for activation of T cells, transmembrane adaptor 602354 NA 9489702 Standard NM_014387 NA Approved LAT1 uc010vdj.2 O43561 OTTHUMG00000131761 ENST00000395461.3:c.271+61T>C chr16.hg19:g.28997270T>C NA B7WPI0|C7C5T6|G5E9K3|O43919 hg19 CCDS53999.1 0.02 3.688678 GAGxGAG COVERED NOVEL LAT-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254689.1 2 7.221167 KEEP 0 0 0 24 757 TT 0.999909 0.999909 0 + 9 60 285 0 0 18.138587 138 60 4811 186 ENST00000395461.3 0.061224 1 SEZ6L2 26470 __UNKNOWN__ __UNKNOWN__ 16 29910518 29910518 __UNKNOWN__ 5'UTR SNP C C G rs11344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:29910518C>G ENST00000308713.5 - 0 350 NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 NA NA adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CAGAATTGGGCTAGGGGTCGC 0.547 NA C||| 1788 0.357029 0.472 0.2666 5008 , , NA 10302 0.4028 NA 0.33 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY358404 CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1 16p12.1 2008-02-05 ENSG00000174938 ENSG00000174938 26470 30844 protein-coding gene gene with protein product type I transmembrane receptor (seizure related protein) NA 12975309 Standard NM_012410 NM_012410 NA Approved PSK-1, FLJ90517 uc010vec.2 Q6UXD5 OTTHUMG00000132112 ENST00000308713.5:c.-178G>C chr16.hg19:g.29910518C>G NA B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47 hg19 CCDS10659.1 0.02 9.351912 GGGxTAG COVERED NOVEL SEZ6L2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255154.2 8 6.786138 KEEP 0 2 73 48 1653 CC 1 1 0 - 10 60 354 0 0 22.847269 195 60 7424 297 ENST00000308713.5 0.04878 1 KCTD13 253980 __UNKNOWN__ __UNKNOWN__ 16 29918034 29918034 __UNKNOWN__ 3'UTR SNP T T C rs1129700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:29918034T>C ENST00000568000.1 - 0 2150 NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 NA NA cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149) Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634) GTP-Rho binding (GO:0017049) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 GGGGTTGGGATGGGTGGAGAA 0.602 NA T||| 2230 0.445288 0.4977 0.4049 5008 , , NA 14619 0.3919 NA 0.5606 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF289573 CCDS10661.1 16p11.2 2013-06-20 2013-06-20 ENSG00000174943 ENSG00000174943 253980 22234 protein-coding gene gene with protein product polymerase delta-interacting protein 1, TNFAIP1-like 608947 potassium channel tetramerisation domain containing 13 NA 11593007 Standard NM_178863 NM_178863 NA Approved PDIP1, FKSG86, POLDIP1 uc002duv.4 Q8WZ19 OTTHUMG00000132120 ENST00000568000.1:c.*159A>G chr16.hg19:g.29918034T>C NA A8K0R5|Q96P93|Q96SA1 hg19 CCDS10661.1 0.02 7.703418 GGAxGGG COVERED NOVEL KCTD13-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255162.2 1 9.628608 KEEP 0 0 0 32 994 TT 0.999997 0.999997 0 - 10 60 338 0 0 21.103831 201 60 7198 291 ENST00000568000.1 0.047393 1 TAOK2 9344 __UNKNOWN__ __UNKNOWN__ 16 29994736 29994736 __UNKNOWN__ Intron SNP T T A rs3814884 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:29994736T>A ENST00000279394.3 + 12 1663 TAOK2_ENST00000308893.4_Intron|TAOK2_ENST00000416441.2_Intron|TAOK2_ENST00000543033.1_Intron NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 NA NA actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403) cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235) ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AGTGCAGCACTCCTCTGAGTC 0.587 NA T||| 1752 0.34984 0.1596 0.3141 5008 , , NA 16744 0.375 NA 0.4423 False NA ,,, NA NA NA 2504 0.5112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020688 CCDS10662.1, CCDS10663.1, CCDS58448.1 16p11.2 2008-02-05 ENSG00000149930 ENSG00000149930 9344 16835 protein-coding gene gene with protein product 613199 NA 10048485, 9786855 Standard NM_016151 NM_016151 NA Approved TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17 uc002dva.2 Q9UL54 OTTHUMG00000132111 ENST00000279394.3:c.1260+83T>A chr16.hg19:g.29994736T>A NA A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2 hg19 CCDS10662.1 0.02 16.797775 CACxCCT COVERED NOVEL TAOK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255151.1 1 9.458865 KEEP 0 1 33 43 1278 TT 1 1 0 + 15 60 541 0 0 32.970832 418 60 15361 488 ENST00000279394.3 0.034642 1 CD2BP2 10421 __UNKNOWN__ __UNKNOWN__ 16 30362813 30362813 __UNKNOWN__ 3'UTR SNP G G A rs80000693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:30362813G>A ENST00000305596.3 - 0 2694 NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682) ribonucleoprotein complex binding (GO:0043021) breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 tttaaaggaaggtatcttacc 0.502 NA g||| 475 0.0948482 0.003 0.2104 5008 , , NA 17532 0.3026 NA 0.0119 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF104222 CCDS10675.1 16p11.2 2012-04-17 2006-03-28 ENSG00000169217 ENSG00000169217 10421 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 1656 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 59 604470 CD2 antigen (cytoplasmic tail)-binding protein 2 NA 9843987 Standard NM_006110 NM_006110 NA Approved LIN1, Snu40, PPP1R59 uc002dxs.3 O95400 OTTHUMG00000132397 ENST00000305596.3:c.*1493C>T chr16.hg19:g.30362813G>A NA B2RDX2|Q9ULP2 hg19 CCDS10675.1 0.02 15.641383 GAAxGTA COVERED NOVEL CD2BP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255528.1 3 26.992405 KEEP 0 3 98 124 4353 GG 1 1 0 - 14 60 508 0 0 31.204318 382 60 13943 666 ENST00000305596.3 0.035354 1 SRCAP 10847 __UNKNOWN__ __UNKNOWN__ 16 30735751 30735751 __UNKNOWN__ Missense_Mutation SNP C C T rs189892751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:30735751C>T ENST00000262518.4 + 25 5391 c.5006C>T c.(5005-5007)cCg>cTg p.P1669L SRCAP_ENST00000344771.4_Missense_Mutation_p.P1511L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1607L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 1669 Pro-rich. NA histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713) NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GCCCCGGTTCCGTCACCTCTC 0.567 NA C||| 24 0.00479233 0.0 0.0014 5008 , , NA 19718 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 143 150 148 NA NA 16 NA 30735751 2197 4300 6497 SO:0001583 missense AB002307 CCDS10689.2 16p11.2 2009-08-06 ENSG00000080603 ENSG00000080603 10847 16974 protein-coding gene gene with protein product Swi2/Snf2-related ATPase homolog (S. cerevisiae), domino homolog 1 (Drosophila) 611421 NA 10347196, 9205841 Standard NM_006662 NM_006662 NA Approved KIAA0309, EAF1, SWR1, DOMO1 uc002dze.1 Q6ZRS2 OTTHUMG00000132393 ENST00000262518.4:c.5006C>T chr16.hg19:g.30735751C>T ENSP00000262518:p.Pro1669Leu NA B0JZA6|O15026|Q7Z744|Q9Y5L9 hg19 CCDS10689.2 0.02 18.738143 TTCxGTC COVERED 5 0.0022893772893772895 0 0.0 0 0.0 5 0.008741258741258742 0 0.0 C 13.73 2.324045 0.41096 . . ENSG00000080603 ENST00000262518;ENST00000395059;ENST00000344771 D;D;D 0.95238 -2.92;-3.65;-3.01 5.81 5.81 0.92471 . 0.363230 0.24122 N 0.041354 D 0.91136 0.7209 N 0.14661 0.345 0.51233 D 0.999912 D;D;D 0.65815 0.995;0.995;0.992 P;P;P 0.56398 0.797;0.656;0.455 D 0.92137 0.5717 10 0.45353 T 0.12 -6.5262 18.8451 0.92202 0.0:1.0:0.0:0.0 . 1511;1607;1669 Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2 .;.;SRCAP_HUMAN L 1669;1607;1511 ENSP00000262518:P1669L;ENSP00000378499:P1607L;ENSP00000343042:P1511L ENSP00000262518:P1669L P + 2 0 SRCAP 30643252 0.004000 0.15560 0.935000 0.37517 0.922000 0.55478 1.864000 0.39469 2.741000 0.93983 0.650000 0.86243 CCG NOVEL SRCAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255523.1 2 37.621442 KEEP 0 0 0 125 4338 CC 1 1 0 + 14 60 547 0 0 34.61548 414 60 14365 700 ENST00000262518.4 0.03271 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 30833246 30833246 __UNKNOWN__ IGR SNP C C T rs9319587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:30833246C>T NA NA ZNF629 (34723 upstream) : BCL7C (11700 downstream) NA NA NA catcccccttcgttcacacct 0.527 NA C||| 1876 0.374601 0.0197 0.5418 5008 , , NA 17105 0.9117 NA 0.3867 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.30833246C>T NA hg19 0.02 17.498412 CTTxGTT COVERED NOVEL 0 2 21.06657 KEEP 0 0 0 70 2362 CC 1 1 0 25 60 905 0 0 61.663735 381 60 13667 595 0.061576 1 FBXL19-AS1 283932 __UNKNOWN__ __UNKNOWN__ 16 30934207 30934207 __UNKNOWN__ RNA SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:30934207T>G ENST00000563777.1 - 0 383 NR_024348.1 Q494R0 FBAS1_HUMAN FBXL19 antisense RNA 1 (head to head) NA NA NA GTGCCCAAGGTGGTGGAAAGC 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK090544 16p11.2 2012-10-12 2012-08-16 2011-03-30 ENSG00000260852 ENSG00000260852 283932 Long non-coding RNAs 27557 non-coding RNA RNA, long non-coding non-protein coding RNA 95, FBXL19 antisense RNA 1 (non-protein coding), FBXL19 antisense RNA 1 NCRNA00095 NA Standard NR_024348 NR_024348 NA Approved MGC125469, MGC125470, MGC125472 uc002dzy.3 Q494R0 OTTHUMG00000176767 ENST00000563777.1: chr16.hg19:g.30934207T>G NA Q3KR42|Q8NAQ9 hg19 0.02 -0.415734 AGGxGGT COVERED NOVEL FBXL19-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000255534.2 2 2.703475 KEEP 0 0 0 9 238 TT 0.99254 0.941327 0 - 8 60 117 0 0 6.501771 39 60 1074 79 ENST00000563777.1 0.170213 0.948402 SETD1A 9739 __UNKNOWN__ __UNKNOWN__ 16 30976970 30976970 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:30976970C>T ENST00000262519.8 + 8 2454 c.1768C>T c.(1768-1770)Cgg>Tgg p.R590W NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 590 Pro-rich. {ECO:0000255}. NA histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CGACGACGACCGGGGTGGCTC 0.687 NA NA NA NA NA NA NA NA NA NA NA 0 23 27 26 NA NA 16 NA 30976970 2195 4288 6483 SO:0001583 missense AB002337 CCDS32435.1 16p11.2 2013-02-12 ENSG00000099381 ENSG00000099381 9739 Chromatin-modifying enzymes / K-methyltransferases, RNA binding motif (RRM) containing 29010 protein-coding gene gene with protein product 611052 NA 9205841, 12670868 Standard NM_014712 XM_005255723 NA Approved KIAA0339, Set1, KMT2F uc002ead.1 O15047 OTTHUMG00000150474 ENST00000262519.8:c.1768C>T chr16.hg19:g.30976970C>T ENSP00000262519:p.Arg590Trp NA A6NP62|Q6PIF3|Q8TAJ6 hg19 CCDS32435.1 0.02 3.707393 GACxGGG COVERED . . . . . . . . . . C 11.13 1.547081 0.27652 . . ENSG00000099381 ENST00000262519 D 0.94092 -3.35 4.41 0.672 0.17935 . 0.454460 0.20063 N 0.100049 D 0.84206 0.5421 N 0.08118 0 0.30345 N 0.785329 D 0.60575 0.988 P 0.47346 0.544 T 0.81141 -0.1068 10 0.59425 D 0.04 . 4.4759 0.11739 0.5353:0.1778:0.2868:0.0 . 590 O15047 SET1A_HUMAN W 590 ENSP00000262519:R590W ENSP00000262519:R590W R + 1 2 SETD1A 30884471 0.342000 0.24809 0.995000 0.50966 0.958000 0.62258 -0.274000 0.08537 0.214000 0.20742 -0.397000 0.06425 CGG NOVEL SETD1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318244.2 3 19.256723 KEEP 0 0 0 64 2135 CC 1 1 0 + 6 60 221 0 0 14.235153 133 70 4367 271 ENST00000262519.8 0.043165 1 SETD1A 9739 __UNKNOWN__ __UNKNOWN__ 16 30990965 30990965 __UNKNOWN__ Silent SNP C C T rs150728823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:30990965C>T ENST00000262519.8 + 14 4544 c.3858C>T c.(3856-3858)gcC>gcT p.A1286A NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1286 NA histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CGGACGAGGCCGAGCGCCCTA 0.721 NA C||| 16 0.00319489 0.0 0.0 5008 , , NA 9652 0.0149 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 17 22 20 NA NA 16 NA 30990965 2186 4275 6461 SO:0001819 synonymous_variant AB002337 CCDS32435.1 16p11.2 2013-02-12 ENSG00000099381 ENSG00000099381 9739 Chromatin-modifying enzymes / K-methyltransferases, RNA binding motif (RRM) containing 29010 protein-coding gene gene with protein product 611052 NA 9205841, 12670868 Standard NM_014712 XM_005255723 NA Approved KIAA0339, Set1, KMT2F uc002ead.1 O15047 OTTHUMG00000150474 ENST00000262519.8:c.3858C>T chr16.hg19:g.30990965C>T NA A6NP62|Q6PIF3|Q8TAJ6 hg19 CCDS32435.1 0.02 11.440517 GGCxGAG COVERED NOVEL SETD1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318244.2 2 26.482882 KEEP 0 0 0 88 2907 CC 1 1 0 + 11 60 413 0 0 26.334988 274 60 9294 479 ENST00000262519.8 0.038596 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 31000516 31000516 __UNKNOWN__ IGR SNP T T A rs553756111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31000516T>A NA NA HSD3B7 (43 upstream) : STX1B (60 downstream) NA NA NA CCCCACCCCATGTCCGCCTCC 0.617 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 12089 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.31000516T>A NA hg19 0.02 19.152355 CCAxGTC COVERED NOVEL 0 2 24.065055 KEEP 0 0 0 80 2367 TT 1 1 0 14 60 512 0 0 30.375328 470 60 16229 684 0.028926 1 ZNF668 79759 __UNKNOWN__ __UNKNOWN__ 16 31075175 31075175 __UNKNOWN__ Silent SNP G G A rs2303223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31075175G>A ENST00000538906.1 - 2 1390 c.606C>T c.(604-606)ggC>ggT p.G202G ZNF668_ENST00000535577.1_Silent_p.G202G|ZNF668_ENST00000539836.3_Silent_p.G225G|ZNF668_ENST00000426488.2_Silent_p.G225G|ZNF668_ENST00000300849.4_Silent_p.G202G|ZNF668_ENST00000394983.2_Silent_p.G202G NM_001172668.1 NP_001166139 Q96K58 ZN668_HUMAN zinc finger protein 668 202 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CATAGGCTTTGCCGCAACGCT 0.672 NA G||| 1732 0.345847 0.0174 0.4092 5008 , , NA 18553 0.8859 NA 0.3877 False NA ,,, NA NA NA 2504 0.1452 NA NA NA Colon(181;1111 1980 5060 10512 25785) NA 0 G ,,, 390,3998 24,342,1828 16 16 16 606,675,606,606 0.6 1 16 dbSNP_100 16 3446,5152 692,2062,1545 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ZNF668 NM_001172668.1,NM_001172669.1,NM_001172670.1,NM_024706.4 ,,, 716,2404,3373 AA,AG,GG 40.0791,8.8879,29.5395 ,,, 202/620,225/643,202/620,202/620 31075175 3836,9150 2194 4299 6493 SO:0001819 synonymous_variant CCDS10701.1, CCDS54003.1 16p11.2 2013-01-08 ENSG00000167394 ENSG00000167394 79759 Zinc fingers, C2H2-type 25821 protein-coding gene gene with protein product NA 12477932 Standard NM_024706 NM_024706 NA Approved FLJ13479 uc021tgt.1 Q96K58 OTTHUMG00000047357 ENST00000538906.1:c.606C>T chr16.hg19:g.31075175G>A NA C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4 hg19 CCDS10701.1 0.02 4.002811 TTTxCCG COVERED NOVEL ZNF668-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000108516.2 2 12.941882 KEEP 0 0 0 43 1520 GG 1 0.999994 0 - 7 60 221 0 0 14.179077 104 60 4019 173 ENST00000538906.1 0.063063 0.999994 ZNF646 9726 __UNKNOWN__ __UNKNOWN__ 16 31088347 31088347 __UNKNOWN__ Silent SNP G G A rs749671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31088347G>A ENST00000300850.5 + 2 991 c.702G>A c.(700-702)gaG>gaA p.E234E ZNF646_ENST00000394979.2_Silent_p.E234E NM_014699.3 NP_055514.3 O15015 ZN646_HUMAN zinc finger protein 646 234 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTCCTGCTGAGGAGGAGCGGC 0.597 NA G||| 1770 0.353435 0.0545 0.4035 5008 , , NA 18624 0.8849 NA 0.3817 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 G 504,3890 230.1+/-244.4 33,438,1726 50 51 51 702 4.8 1 16 dbSNP_86 51 3413,5187 500.9+/-375.3 670,2073,1557 no coding-synonymous ZNF646 NM_014699.3 703,2511,3283 AA,AG,GG 39.686,11.4702,30.1447 234/1833 31088347 3917,9077 2197 4300 6497 SO:0001819 synonymous_variant AB002294 CCDS10702.1 16p11.2 2013-01-08 ENSG00000167395 ENSG00000167395 9726 Zinc fingers, C2H2-type 29004 protein-coding gene gene with protein product NA Standard NM_014699 NM_014699 NA Approved KIAA0296 uc002eap.3 O15015 OTTHUMG00000047355 ENST00000300850.5:c.702G>A chr16.hg19:g.31088347G>A NA Q8IVD8 hg19 CCDS10702.1 0.02 8.881602 TGAxGAG COVERED NOVEL ZNF646-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000108508.2 1 17.756484 KEEP 0 0 0 59 2064 GG 1 1 0 + 19 60 694 0 0 49.812697 216 60 7995 361 ENST00000300850.5 0.080851 1 ZNF646 9726 __UNKNOWN__ __UNKNOWN__ 16 31088625 31088625 __UNKNOWN__ Missense_Mutation SNP A A G rs749670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31088625A>G ENST00000300850.5 + 2 1269 c.980A>G c.(979-981)gAg>gGg p.E327G ZNF646_ENST00000394979.2_Missense_Mutation_p.E327G NM_014699.3 NP_055514.3 O15015 ZN646_HUMAN zinc finger protein 646 327 NA E -> G (in dbSNP:rs749670). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CGCTGGGAGGAGAAAGGGATG 0.632 NA A||| 1731 0.345647 0.0174 0.4092 5008 , , NA 17956 0.8849 NA 0.3877 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 A GLY/GLU 392,4002 190.5+/-216.4 24,344,1829 46 39 42 980 4.2 1 16 dbSNP_86 42 3462,5138 492.6+/-373.4 694,2074,1532 yes missense ZNF646 NM_014699.3 98 718,2418,3361 GG,GA,AA 40.2558,8.9213,29.6598 benign 327/1833 31088625 3854,9140 2197 4300 6497 SO:0001583 missense AB002294 CCDS10702.1 16p11.2 2013-01-08 ENSG00000167395 ENSG00000167395 9726 Zinc fingers, C2H2-type 29004 protein-coding gene gene with protein product NA Standard NM_014699 NM_014699 NA Approved KIAA0296 uc002eap.3 O15015 OTTHUMG00000047355 ENST00000300850.5:c.980A>G chr16.hg19:g.31088625A>G ENSP00000300850:p.Glu327Gly NA Q8IVD8 hg19 CCDS10702.1 0.02 10.927546 AGGxGAA COVERED 1002 0.45879120879120877 15 0.03048780487804878 158 0.43646408839779005 525 0.9178321678321678 304 0.40105540897097625 A 4.428 0.079178 0.08533 0.089213 0.402558 ENSG00000167395 ENST00000300850;ENST00000394979 T;T 0.10005 2.92;2.96 5.34 4.18 0.49190 . . . . . T 0.00012 0.0000 N 0.24115 0.695 0.45272 P 0.0017249999999999766 B 0.16802 0.019 B 0.12156 0.007 T 0.40213 -0.9575 8 0.11485 T 0.65 -10.072 6.2909 0.21059 0.7526:0.1626:0.0848:0.0 rs749670;rs3751854;rs17853439;rs56886700;rs749670 327 O15015-2 . G 327 ENSP00000300850:E327G;ENSP00000378429:E327G ENSP00000300850:E327G E + 2 0 ZNF646 30996126 0.005000 0.15991 0.990000 0.47175 0.196000 0.23810 -0.083000 0.11286 2.022000 0.59522 0.533000 0.62120 GAG NOVEL ZNF646-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000108508.2 1 20.296607 KEEP 0 1 9 71 2144 AA 1 1 0 + 13 60 470 0 0 30.036893 284 60 10146 422 ENST00000300850.5 0.043771 1 ZNF646 9726 __UNKNOWN__ __UNKNOWN__ 16 31091961 31091961 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31091961G>A ENST00000300850.5 + 2 4605 c.4316G>A c.(4315-4317)cGc>cAc p.R1439H ZNF646_ENST00000394979.2_Missense_Mutation_p.R1439H NM_014699.3 NP_055514.3 O15015 ZN646_HUMAN zinc finger protein 646 1439 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CCAGGGGAGCGCAGTCAGAGC 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 39 47 44 NA NA 16 NA 31091961 2197 4300 6497 SO:0001583 missense AB002294 CCDS10702.1 16p11.2 2013-01-08 ENSG00000167395 ENSG00000167395 9726 Zinc fingers, C2H2-type 29004 protein-coding gene gene with protein product NA Standard NM_014699 NM_014699 NA Approved KIAA0296 uc002eap.3 O15015 OTTHUMG00000047355 ENST00000300850.5:c.4316G>A chr16.hg19:g.31091961G>A ENSP00000300850:p.Arg1439His NA Q8IVD8 hg19 CCDS10702.1 0.02 6.088628 AGCxCAG COVERED . . . . . . . . . . G 0.019 -1.449369 0.01080 . . ENSG00000167395 ENST00000300850;ENST00000394979 T;T 0.08634 3.07;3.1 4.73 -2.63 0.06133 . . . . . T 0.02230 0.0069 N 0.02539 -0.55 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.46484 -0.9188 9 0.14252 T 0.57 -1.7099 1.8246 0.03118 0.3781:0.1174:0.0877:0.4168 . 1439 O15015-2 . H 1439 ENSP00000300850:R1439H;ENSP00000378429:R1439H ENSP00000300850:R1439H R + 2 0 ZNF646 30999462 0.000000 0.05858 0.006000 0.13384 0.323000 0.28346 -0.098000 0.11024 -0.264000 0.09365 -1.086000 0.02197 CGC NOVEL ZNF646-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000108508.2 1 13.542434 KEEP 0 0 0 45 1532 GG 1 1 0 + 8 60 282 0 0 17.603613 183 60 6506 284 ENST00000300850.5 0.041885 1 PRSS53 339105 __UNKNOWN__ __UNKNOWN__ 16 31099011 31099011 __UNKNOWN__ Missense_Mutation SNP T T C rs11150606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31099011T>C ENST00000280606.6 - 3 242 c.89A>G c.(88-90)cAg>cGg p.Q30R RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.Q105R NM_001039503.2 NP_001034592.1 Q2L4Q9 PRS53_HUMAN protease, serine, 53 30 Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) large_intestine(1)|lung(3) 4 GGGGCCACGCTGTCCACAGGC 0.637 NA T||| 970 0.19369 0.0053 0.2061 5008 , , NA 15454 0.7639 NA 0.0338 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 T ARG/GLN 52,4044 1,50,1997 32 38 36 89 6 1 16 dbSNP_120 36 147,8217 1,145,4036 yes missense PRSS53 NM_001039503.2 43 2,195,6033 CC,CT,TT 1.7575,1.2695,1.5971 probably-damaging 30/554 31099011 199,12261 2048 4182 6230 SO:0001583 missense CCDS42153.1 16p11.2 2010-05-07 ENSG00000151006 ENSG00000151006 339105 Serine peptidases / Serine peptidases 34407 protein-coding gene gene with protein product polyserase 3 610561 NA 16566820 Standard NM_001081268 NM_001039503 NA Approved POL3S uc002eaq.3 Q2L4Q9 OTTHUMG00000047358 ENST00000280606.6:c.89A>G chr16.hg19:g.31099011T>C ENSP00000280606:p.Gln30Arg NA hg19 CCDS42153.1 0.02 8.737157 CGCxGTC COVERED 550 0.2518315018315018 4 0.008130081300813009 65 0.17955801104972377 449 0.784965034965035 32 0.04221635883905013 T 15.67 2.903075 0.52227 0.012695 0.017575 ENSG00000151006;ENSG00000255439 ENST00000280606;ENST00000529564 T;T 0.80994 -1.44;-1.44 5.97 5.97 0.96955 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1); 0.000000 0.34507 U 0.003908 T 0.00012 0.0000 N 0.03050 -0.425 0.36183 P 0.15047200000000005 B 0.26081 0.141 B 0.20184 0.028 T 0.43212 -0.9405 9 0.06757 T 0.87 . 5.6715 0.17725 0.1511:0.0782:0.0:0.7706 rs11150606;rs11150606 30 Q2L4Q9 PRS53_HUMAN R 30;105 ENSP00000280606:Q30R;ENSP00000431371:Q105R ENSP00000280606:Q30R Q - 2 0 RP11-196G11.1;PRSS53 31006512 0.953000 0.32496 1.000000 0.80357 0.925000 0.55904 0.928000 0.28831 2.288000 0.76882 0.533000 0.62120 CAG NOVEL PRSS53-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000108580.4 1 19.24545 KEEP 0 0 0 64 1949 TT 1 1 0 - 15 60 526 0 0 36.400776 192 60 6774 338 ENST00000280606.6 0.072464 1 VKORC1 79001 __UNKNOWN__ __UNKNOWN__ 16 31104878 31104878 __UNKNOWN__ Intron SNP G G A rs9934438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31104878G>A ENST00000319788.7 - 2 384 VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000394971.3_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000498155.1_Intron Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 NA NA blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) CTAGTCCAAGGGTCGATGATC 0.607 NA G||| 1782 0.355831 0.0545 0.4121 5008 , , NA 11569 0.8849 NA 0.3877 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 GRCh37 CS050012 VKORC1 S rs9934438 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10703.1, CCDS10704.1 16p11.2 2008-02-05 2004-07-23 ENSG00000167397 ENSG00000167397 79001 23663 protein-coding gene gene with protein product 608547 vitamin K dependent clotting factors deficiency 2 VKCFD2 NA Standard NM_024006 NM_024006 NA Approved uc002eas.3 Q9BQB6 OTTHUMG00000047408 ENST00000319788.7:c.174-136C>T chr16.hg19:g.31104878G>A NA A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4 hg19 0.02 2.147161 AAGxGTC COVERED NOVEL VKORC1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000108583.1 0 2.407555 KEEP 0 0 0 8 262 GG 0.99257 0.990484 0 - 4 60 150 0 0 10.176474 69 60 2484 81 ENST00000319788.7 0.054795 0.997898 BCKDK 10295 __UNKNOWN__ __UNKNOWN__ 16 31121793 31121793 __UNKNOWN__ Silent SNP G G A rs14235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31121793G>A ENST00000287507.3 + 7 978 c.615G>A c.(613-615)acG>acA p.T205T BCKDK_ENST00000219794.6_Silent_p.T205T|BCKDK_ENST00000394950.3_Silent_p.T205T|BCKDK_ENST00000394951.1_Silent_p.T205T NM_001271926.1 NP_001258855.1 O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 205 Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}. NA branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468) mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739) [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674) breast(1)|stomach(1) 2 TGTTGGCCACGCATCACCTGG 0.567 NA G||| 1799 0.359225 0.0893 0.3833 5008 , , NA 18067 0.8849 NA 0.3817 False NA ,,, NA NA NA 2504 0.1421 NA NA NA NA 0 G , 592,3802 255.8+/-260.9 44,504,1649 62 63 63 615,615 -9 0.9 16 dbSNP_52 63 3344,5256 492.2+/-373.3 638,2068,1594 no coding-synonymous,coding-synonymous BCKDK NM_001122957.1,NM_005881.2 , 682,2572,3243 AA,AG,GG 38.8837,13.4729,30.2909 , 205/366,205/413 31121793 3936,9058 2197 4300 6497 SO:0001819 synonymous_variant AF026548 CCDS10705.1, CCDS45467.1, CCDS61917.1 16p11.2 2008-05-14 ENSG00000103507 ENSG00000103507 10295 16902 protein-coding gene gene with protein product 614901 NA 1889817 Standard NM_005881 NM_005881 NA Approved uc002eaw.5 O14874 OTTHUMG00000047356 ENST00000287507.3:c.615G>A chr16.hg19:g.31121793G>A NA A8MY43|Q6FGL4|Q96G95|Q96IN5 hg19 0.02 4.000879 CACxCAT COVERED NOVEL BCKDK-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000108513.1 0 17.889831 KEEP 0 1 30 70 2418 GG 1 1 0 + 6 60 199 0 0 12.153376 128 60 4488 259 ENST00000287507.3 0.044776 1 KAT8 84148 __UNKNOWN__ __UNKNOWN__ 16 31141993 31141993 __UNKNOWN__ Intron SNP C C T rs1549293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:31141993C>T ENST00000543774.2 + 10 1492 KAT8_ENST00000448516.2_Intron|KAT8_ENST00000219797.4_Intron Q9H7Z6 KAT8_HUMAN K(lysine) acetyltransferase 8 NA NA chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134) NA CCTGCTTCCTCATACCCTGTC 0.597 NA C||| 1803 0.360024 0.093 0.3833 5008 , , NA 15923 0.8849 NA 0.3817 False NA ,,, NA NA NA 2504 0.1411 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF217501 CCDS10706.1, CCDS45468.1 16p11.1 2013-01-10 2011-07-21 2011-07-21 ENSG00000103510 ENSG00000103510 84148 2.3.1.48 Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing 17933 protein-coding gene gene with protein product 609912 MYST histone acetyltransferase 1 MYST1 NA 10786633 Standard NM_032188 NM_032188 NA Approved MOF, FLJ14040, hMOF, ZC2HC8 uc002eax.3 Q9H7Z6 OTTHUMG00000132410 ENST00000543774.2:c.1157+66C>T chr16.hg19:g.31141993C>T NA A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35 hg19 CCDS10706.1 0.02 6.150202 CCTxATA COVERED NOVEL KAT8-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000255546.3 1 18.359112 KEEP 0 0 0 61 2139 CC 1 1 0 + 10 60 360 0 0 23.9076 174 60 6508 285 ENST00000543774.2 0.054348 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32136023 32136023 __UNKNOWN__ IGR SNP C C G rs74721514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32136023C>G NA NA RP11-1166P10.6 (39917 upstream) : HERC2P4 (45281 downstream) NA NA NA ttccaccccccacgttcaagc 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32136023C>G NA hg19 0.02 -0.122828 CCCxACG COVERED NOVEL 0 4 3.611773 KEEP 6 0 0 12 423 AC 0.993634 0.195062 0 2 24 75 0 0 6.383897 7 50 269 38 0.222222 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32136025 32136025 __UNKNOWN__ IGR SNP C C A rs78695786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32136025C>A NA NA RP11-1166P10.6 (39919 upstream) : HERC2P4 (45279 downstream) NA NA NA ccaccccccacgttcaagcaa 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32136025C>A NA hg19 0.02 -0.114053 CCAxGTT COVERED NOVEL 0 4 3.850402 KEEP 6 0 0 13 424 CC 0.993634 0.195062 0 2 24 75 0 0 6.383908 7 50 259 39 0.222222 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32390844 32390844 __UNKNOWN__ IGR SNP C C A rs200946174 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32390844C>A NA NA RP11-17M15.2 (68968 upstream) : RP11-626K17.3 (75088 downstream) NA NA NA TTATGAACTTCTCCTGGTTGA 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32390844C>A NA hg19 0.02 1.938753 CTTxTCC COVERED NOVEL 0 2 2.708371 KEEP 3 0 0 9 303 CC 0.99257 0.990784 0 4 31 141 0 0 9.277444 69 50 2676 99 0.054795 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32418093 32418093 __UNKNOWN__ IGR SNP C C A rs62040253 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32418093C>A NA NA RP11-17M15.2 (96217 upstream) : RP11-626K17.3 (47839 downstream) NA NA NA actcaggaggctgaagcagaa 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32418093C>A NA hg19 0.02 -0.105282 AGGxTGA UNCOVERED NOVEL 0 5 4.795601 KEEP 4 0 0 16 558 CC 0.993634 0.138942 0 3 40 110 0 0 9.500783 9 60 360 39 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32442253 32442253 __UNKNOWN__ IGR SNP T T A rs78532111 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32442253T>A NA NA RP11-17M15.2 (120377 upstream) : RP11-626K17.3 (23679 downstream) NA NA NA AGTGTCATATTTTCATATTGC 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32442253T>A NA hg19 0.02 10.198787 TATxTTC COVERED NOVEL 0 1 7.521843 KEEP 12 0 0 25 755 TT 0.999909 0.999909 0 10 40 338 0 0 20.673731 225 60 8101 343 0.042553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 32442384 32442384 __UNKNOWN__ IGR SNP T T C rs76213319 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32442384T>C NA NA RP11-17M15.2 (120508 upstream) : RP11-626K17.3 (23548 downstream) NA NA NA TTTGATACGATCAGCACTTTT 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.32442384T>C NA hg19 0.02 12.258602 CGAxCAG COVERED NOVEL 0 4 6.953227 KEEP 13 1 34 35 1107 TT 0.999998 0.999998 0 26 48 905 0 0 65.937778 240 60 8590 373 0.097744 1 RP11-67H24.2 0 __UNKNOWN__ __UNKNOWN__ 16 32833782 32833782 __UNKNOWN__ lincRNA SNP C C T rs554551931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:32833782C>T ENST00000569859.1 + 0 373 NA NA NA ccctccctcccttccttccct 0.388 NA .||| 5 0.000998403 0.0038 0.0 5008 , , NA 31830 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000569859.1: chr16.hg19:g.32833782C>T NA hg19 0.02 -0.149147 TCCxTTC UNCOVERED NOVEL RP11-67H24.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000432377.1 4 2.708681 KEEP 2 0 0 9 319 CC 0 0 0 + 2 23 80 1 0 7.000539 6 60 230 31 ENST00000569859.1 0.25 0.292001 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33408626 33408626 __UNKNOWN__ IGR SNP T T C rs8059234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33408626T>C NA NA RP11-23E10.4 (41813 upstream) : BMS1P8 (88536 downstream) NA NA NA TCCCGGCTCATGTACGCCCAG 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33408626T>C NA hg19 0.02 14.741672 TCAxGTA COVERED NOVEL 0 1 3.980869 KEEP 1 2 65 36 1118 TT 1 1 0 40 60 1387 0 0 105.444555 280 60 10351 468 0.125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33408654 33408654 __UNKNOWN__ IGR SNP C C A rs60406485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33408654C>A NA NA RP11-23E10.4 (41841 upstream) : BMS1P8 (88508 downstream) NA NA NA AGGATGATGACCTGCTGAACC 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33408654C>A NA hg19 0.02 13.081253 TGAxCTG COVERED NOVEL 0 1 7.057273 KEEP 1 1 27 33 1204 CC 0.999998 0.999998 0 16 49 566 0 0 37.483369 269 60 10130 435 0.05614 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33408733 33408733 __UNKNOWN__ IGR SNP G G A rs8058447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33408733G>A NA NA RP11-23E10.4 (41920 upstream) : BMS1P8 (88429 downstream) NA NA NA TGCCTGTGCCGCGGAAAGAGT 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33408733G>A NA hg19 0.02 6.918057 GCCxCGG COVERED NOVEL 0 1 4.514666 KEEP 0 0 0 15 529 GG 0.99649 0.99649 0 7 60 252 0 0 15.74985 170 60 6219 241 0.039548 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33408734 33408734 __UNKNOWN__ IGR SNP C C T rs59716537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33408734C>T NA NA RP11-23E10.4 (41921 upstream) : BMS1P8 (88428 downstream) NA NA NA GCCTGTGCCGCGGAAAGAGTA 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33408734C>T NA hg19 0.02 9.78803 CCGxGGA COVERED NOVEL 0 1 4.514219 KEEP 0 0 0 15 500 CC 0.99649 0.99649 0 7 60 257 0 0 16.214 172 60 5707 242 0.039106 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33409377 33409377 __UNKNOWN__ IGR SNP C C T rs11641528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33409377C>T NA NA RP11-23E10.4 (42564 upstream) : BMS1P8 (87785 downstream) NA NA NA tttgggaggccgaggcaggag 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33409377C>T NA hg19 0.02 -0.08773 GGCxGAG UNCOVERED NOVEL 0 1 3.009771 KEEP 2 0 0 10 348 CC 0.99257 0.09898 0 4 60 153 0 0 14.28574 6 60 209 28 0.4 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33410591 33410591 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33410591A>T NA NA RP11-23E10.4 (43778 upstream) : BMS1P8 (86571 downstream) NA NA NA attacaggcgagagccacaac 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33410591A>T NA hg19 0.02 9.295211 GCGxGAG COVERED NOVEL 0 5 6.254054 KEEP 17 1 32 32 1043 AA 0.999997 0.999997 0 8 40 278 0 0 16.00982 260 60 9163 355 0.029851 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33410780 33410780 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33410780G>T NA NA RP11-23E10.4 (43967 upstream) : BMS1P8 (86382 downstream) NA NA NA AATGACCGAAGGGGACAGCTC 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33410780G>T NA hg19 0.02 32.900898 GAAxGGG COVERED NOVEL 0 6 3.550171 KEEP 23 4 120 54 1936 GG 1 1 0 37 51 1363 0 0 90.838796 674 60 25329 969 0.052039 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33530731 33530731 __UNKNOWN__ IGR SNP A A T rs4088622 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33530731A>T NA NA BMS1P8 (31639 upstream) : IGHV3OR16-12 (74499 downstream) NA NA NA AGTGCTTTTCATTCCTATTTA 0.269 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33530731A>T NA hg19 0.02 -0.385348 TTCxTTC COVERED NOVEL 0 0 2.407331 KEEP 2 0 0 8 252 AA 0.99257 0.911349 0 10 40 353 0 0 30.313618 30 60 1050 67 0.25 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33544247 33544247 __UNKNOWN__ IGR SNP C C T rs28502114 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33544247C>T NA NA BMS1P8 (45155 upstream) : IGHV3OR16-12 (60983 downstream) NA NA NA TGCAAAATTACCTGTCCCAGA 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33544247C>T NA hg19 0.02 6.622434 TTAxCTG COVERED NOVEL 0 1 4.618744 KEEP 0 3 90 47 1665 CC 1 1 0 6 60 231 0 0 15.827894 105 60 3904 307 0.054054 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33544302 33544302 __UNKNOWN__ IGR SNP C C G rs2698634 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33544302C>G NA NA BMS1P8 (45210 upstream) : IGHV3OR16-12 (60928 downstream) NA NA NA AAAACAGAATCTTTCTTGTCA 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33544302C>G NA hg19 0.02 7.459964 AATxTTT COVERED NOVEL 0 0 3.520556 KEEP 0 3 107 49 1768 CC 1 1 0 13 60 514 0 0 37.598247 159 60 6092 331 0.075581 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33630527 33630527 __UNKNOWN__ IGR SNP G G A rs369092363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33630527G>A NA NA IGHV3OR16-13 (399 upstream) : RP11-812E19.9 (16516 downstream) NA NA NA TCAGACTCAGGGCAGGAGTCT 0.557 NA .||| 11 0.00219649 0.0008 0.0 5008 , , NA 30074 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33630527G>A NA hg19 0.02 14.451528 CAGxGCA COVERED NOVEL 0 0 6.32045 KEEP 0 0 0 21 729 GG 0.999869 0.999869 0 12 60 435 0 0 25.911047 383 60 13915 465 0.03038 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33730784 33730784 __UNKNOWN__ IGR SNP T T C rs62039223 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33730784T>C NA NA RP11-812E19.7 (69453 upstream) : ARHGAP23P1 (8112 downstream) NA NA NA gggcTCCCGCTGCTCCTTGCT 0.741 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33730784T>C NA hg19 0.02 1.5376 CGCxGCT COVERED NOVEL 0 1 8.124372 KEEP 17 0 0 27 841 TT 0.999879 0.999818 0 4 27 132 0 0 7.87597 93 50 3405 147 0.041237 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33741083 33741083 __UNKNOWN__ IGR SNP G G C rs144847558 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33741083G>C NA NA ARHGAP23P1 (1449 upstream) : RP11-812E19.3 (34295 downstream) NA NA NA CAAGGCCTCCGGCAGACTCCA 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33741083G>C NA hg19 0.02 8.197764 TCCxGCA COVERED 266 0.12179487179487179 93 0.18902439024390244 30 0.08287292817679558 49 0.08566433566433566 94 0.12401055408970976 . 0.310 -0.968235 0.02232 . . ENSG00000226511 ENST00000450856 . . . 1.16 1.16 0.20824 . . . . . T 0.00073 0.0002 . . . . . . . . . . . . T 0.12760 -1.0535 3 . . . . 7.1189 0.25433 0.0:0.7143:0.2857:0.0 rs2549427 . . . R 3 . . P - 2 0 AC140658.1 33648584 0.081000 0.21417 0.312000 0.25196 0.134000 0.20937 -0.173000 0.09854 -0.283000 0.09115 -0.700000 0.03674 CCG NOVEL 0 3 2.943643 KEEP 15 1 32 21 701 GG 0.999879 0.999879 0 30 40 932 0 0 69.367401 193 50 6570 281 0.134529 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33925456 33925456 __UNKNOWN__ IGR SNP G G A rs370651558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33925456G>A NA NA RP11-812E19.3 (147712 upstream) : AC136932.2 (20492 downstream) NA NA NA gcgagtctccgtctcaaaaac 0.478 NA .||| 57 0.0113818 0.0023 0.0 5008 , , NA 16752 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33925456G>A NA hg19 0.02 -0.438642 TCCxTCT COVERED NOVEL 0 11 6.3204 KEEP 1 0 0 21 728 GG 0.999869 0.959733 0 3 60 111 0 0 8.25172 28 60 971 80 0.096774 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33934570 33934570 __UNKNOWN__ IGR SNP A A T rs199701507 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33934570A>T NA NA RP11-812E19.3 (156826 upstream) : AC136932.2 (11378 downstream) NA NA NA TGACCTTTGGACATCTCGTCT 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33934570A>T NA hg19 0.02 6.598804 TGGxCAT COVERED NOVEL 0 5 3.445862 KEEP 0 1 33 23 761 AA 0.999909 0.999909 0 6 49 206 0 0 15.001642 54 60 1961 255 0.1 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33935715 33935715 __UNKNOWN__ IGR SNP A A G rs74793003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33935715A>G NA NA RP11-812E19.3 (157971 upstream) : AC136932.2 (10233 downstream) NA NA NA AAGGAGACAGAAAAAAGCAAA 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33935715A>G NA hg19 0.02 7.277873 CAGxAAA COVERED NOVEL 0 0 3.144085 KEEP 0 1 33 22 699 AA 0.999892 0.999892 0 19 60 680 0 0 60.473153 43 60 1531 272 0.306452 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33940345 33940345 __UNKNOWN__ IGR SNP A A G rs652065 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33940345A>G NA NA RP11-812E19.3 (162601 upstream) : AC136932.2 (5603 downstream) NA NA NA CTTACTTGGAACAATTTCATG 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33940345A>G NA hg19 0.02 18.641172 GGAxCAA COVERED NOVEL 0 4 4.880171 KEEP 1 2 68 40 1186 AA 1 1 0 15 60 562 0 0 36.766803 320 60 11091 500 0.044776 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941086 33941086 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33941086C>T NA NA RP11-812E19.3 (163342 upstream) : AC136932.2 (4862 downstream) NA NA NA TATCAAGAGTCACACATAACA 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941086C>T NA hg19 0.02 29.667517 AGTxACA COVERED NOVEL 0 5 22.642451 KEEP 8 2 59 96 3384 CC 1 1 0 17 51 576 0 0 37.331935 285 60 10784 950 0.056291 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941141 33941141 __UNKNOWN__ IGR SNP C C A rs138676690 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33941141C>A NA NA RP11-812E19.3 (163397 upstream) : AC136932.2 (4807 downstream) NA NA NA ATACAGTGAACTACAGAAAAA 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941141C>A NA hg19 0.02 22.008673 GAAxTAC COVERED NOVEL 0 9 9.398036 KEEP 7 2 53 50 1768 CC 1 1 0 20 50 651 0 0 43.886217 251 60 9471 619 0.073801 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941202 33941202 __UNKNOWN__ IGR SNP T T G rs140074835 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33941202T>G NA NA RP11-812E19.3 (163458 upstream) : AC136932.2 (4746 downstream) NA NA NA TAACCTCATTTTTTAAAATAC 0.264 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941202T>G NA hg19 0.02 10.474751 ATTxTTT COVERED NOVEL 0 4 3.244741 KEEP 4 1 32 22 721 TT 0.999892 0.999892 0 8 60 277 0 0 17.200736 178 60 6301 329 0.043011 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33941964 33941964 __UNKNOWN__ IGR SNP C C T rs202214546 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33941964C>T NA NA RP11-812E19.3 (164220 upstream) : AC136932.2 (3984 downstream) NA NA NA GAAGCTGCCCCTCCCTGAATC 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33941964C>T NA hg19 0.02 6.325184 CCCxTCC COVERED NOVEL 0 2 6.319803 KEEP 21 0 0 21 697 CC 0.999366 0.999366 0 6 27 224 0 0 15.30273 98 60 3612 206 0.057692 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33942052 33942052 __UNKNOWN__ IGR SNP A A G rs201995319 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33942052A>G NA NA RP11-812E19.3 (164308 upstream) : AC136932.2 (3896 downstream) NA NA NA TAATTCCTTTAGTCTTGAAAA 0.303 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33942052A>G NA hg19 0.02 9.581485 TTTxGTC COVERED NOVEL 0 3 3.882103 KEEP 52 2 69 37 1176 AA 0.999997 0.999997 0 14 40 534 0 0 37.776432 195 60 7153 406 0.066986 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 33958010 33958010 __UNKNOWN__ IGR SNP C C T rs62645590 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:33958010C>T NA NA AC136932.2 (11989 upstream) : LINC00273 (3041 downstream) NA NA NA ctctctctctctctctctgtc 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.33958010C>T NA hg19 0.02 4.058657 TCTxTCT COVERED NOVEL 0 132 36.788853 KEEP 107 2 56 142 5097 CG 1 0.999999 0 4 60 146 0 1 14.100122 4 45 145 423 0.5 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 34175673 34175673 __UNKNOWN__ IGR SNP C C G rs199680398 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:34175673C>G NA NA RNA5-8SP2 (210096 upstream) : CTD-2144E22.8 (37441 downstream) NA NA NA agccaccgcgctgggtcctca 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.34175673C>G NA hg19 0.02 -0.122826 GCGxTGG UNCOVERED NOVEL 0 2 2.407859 KEEP 5 0 0 8 284 CC 0 0 0 2 39 75 0 0 6.795617 4 60 160 35 0.333333 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389601 46389601 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46389601T>C NA NA None (None upstream) : ANKRD26P1 (113651 downstream) NA NA NA tcgattcaattccatgatgat 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46389601T>C NA hg19 0.02 2.215314 AATxCCA COVERED NOVEL 0 3 3.610809 KEEP 12 0 0 12 374 TT 0.99254 0.99231 0 4 45 153 0 0 10.247555 79 45 2841 134 0.048193 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389608 46389608 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46389608T>C NA NA None (None upstream) : ANKRD26P1 (113644 downstream) NA NA NA aattccatgatgattctattt 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46389608T>C NA hg19 0.02 1.781298 TGAxGAT COVERED NOVEL 0 4 3.610958 KEEP 13 0 0 12 376 TT 0.99257 0.992452 0 4 40 149 0 0 9.765191 83 45 3045 144 0.045977 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46389894 46389894 __UNKNOWN__ IGR SNP A A T rs2128451 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46389894A>T NA NA None (None upstream) : ANKRD26P1 (113358 downstream) NA NA NA ATTccattccattccattcaa 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46389894A>T NA hg19 0.02 -0.184232 TCCxTTC UNCOVERED NOVEL 0 3 3.61093 KEEP 27 0 0 12 377 AA 0 0 0 6 29 217 0 0 19.256702 14 41 515 56 0.3 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391177 46391177 __UNKNOWN__ IGR SNP G G T rs4103649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391177G>T NA NA None (None upstream) : ANKRD26P1 (112075 downstream) NA NA NA tgatgtttccgttcaattcca 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391177G>T NA hg19 0.02 -0.394738 TCCxTTC UNCOVERED NOVEL 0 6 3.310462 KEEP 37 0 0 11 375 GG 0 0 0 3 27 107 0 0 7.407558 40 40 1324 96 0.069767 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391232 46391232 __UNKNOWN__ IGR SNP T T G rs4249087 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391232T>G NA NA None (None upstream) : ANKRD26P1 (112020 downstream) NA NA NA ggattccatttgattccattc 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391232T>G NA hg19 0.02 1.877345 ATTxGAT COVERED NOVEL 0 11 2.24082 KEEP 39 1 33 19 577 TT 0.99254 0.991863 0 5 47 187 0 0 13.079675 71 50 2625 154 0.065789 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391233 46391233 __UNKNOWN__ IGR SNP G G C rs4353504 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391233G>C NA NA None (None upstream) : ANKRD26P1 (112019 downstream) NA NA NA gattccatttgattccattca 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391233G>C NA hg19 0.02 2.076949 TTTxATT COVERED NOVEL 0 10 5.71842 KEEP 37 0 0 19 662 GG 0.99254 0.991863 0 7 49 253 0 0 18.498547 69 50 2667 152 0.092105 0.999317 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391298 46391298 __UNKNOWN__ IGR SNP T T C rs4605190 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391298T>C NA NA None (None upstream) : ANKRD26P1 (111954 downstream) NA NA NA attcaatgattatccccttag 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391298T>C NA hg19 0.02 4.848433 GATxATC COVERED NOVEL 0 11 5.414055 KEEP 18 0 0 18 530 TT 0.99649 0.996488 0 6 49 235 1 0 16.276344 103 60 3648 170 0.055046 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391345 46391345 __UNKNOWN__ IGR SNP A A G rs4383169 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391345A>G NA NA None (None upstream) : ANKRD26P1 (111907 downstream) NA NA NA ccattcgatgatgattccttt 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391345A>G NA hg19 0.02 4.279553 ATGxTGA COVERED NOVEL 0 9 6.592536 KEEP 22 0 0 22 650 AA 0.999859 0.999859 0 5 49 186 0 0 11.963453 115 60 4134 201 0.041667 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391465 46391465 __UNKNOWN__ IGR SNP G G T rs71257063|rs4249761 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391465G>T NA NA None (None upstream) : ANKRD26P1 (111787 downstream) NA NA NA tgcattcgatgattccattat 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391465G>T NA hg19 0.02 5.970893 GATxATT COVERED NOVEL 0 13 3.746035 KEEP 21 1 27 22 770 GG 0.997832 0.997832 0 7 47 219 0 0 13.613297 127 49 4821 241 0.052239 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391651 46391651 __UNKNOWN__ IGR SNP A A G rs61323778|rs4103653|rs146432508 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391651A>G NA NA None (None upstream) : ANKRD26P1 (111601 downstream) NA NA NA attcgtgtccattcggtgatt 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391651A>G NA hg19 0.02 6.430486 TCCxTTC COVERED NOVEL 0 17 6.020204 KEEP 5 3 88 51 1626 AA 1 1 0 6 49 210 0 0 13.113356 134 50 4961 278 0.042857 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391690 46391690 __UNKNOWN__ IGR SNP A A T rs57357109|rs4347658|rs67135717|rs374708396 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391690A>T NA NA None (None upstream) : ANKRD26P1 (111562 downstream) NA NA NA ggatgattccattcgattcca 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391690A>T NA hg19 0.02 4.80127 TCCxTTC COVERED NOVEL 0 20 4.316311 KEEP 18 3 99 49 1542 AA 1 0.999994 0 6 45 226 0 0 15.427079 101 48 3723 226 0.056075 0.999994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391729 46391729 __UNKNOWN__ IGR SNP T T G rs55732351|rs9286005 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391729T>G NA NA None (None upstream) : ANKRD26P1 (111523 downstream) NA NA NA ttccattcgatgatgattcca 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391729T>G NA hg19 0.02 2.352283 CGAxGAT COVERED NOVEL 0 10 4.6469 KEEP 16 1 33 27 814 TT 0.99986 0.991955 0 4 53 155 0 0 10.997591 57 50 2104 114 0.065574 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46391967 46391967 __UNKNOWN__ IGR SNP A A G rs4372878 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46391967A>G NA NA None (None upstream) : ANKRD26P1 (111285 downstream) NA NA NA attccattcgatgatgattcc 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46391967A>G NA hg19 0.02 6.546588 TCGxTGA COVERED NOVEL 0 13 8.726702 KEEP 2 0 0 29 929 AA 0.999988 0.999988 0 6 60 225 1 0 14.141806 161 60 5914 259 0.035928 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392046 46392046 __UNKNOWN__ IGR SNP T T A rs4396558 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46392046T>A NA NA None (None upstream) : ANKRD26P1 (111206 downstream) NA NA NA tattggatgattccattcgat 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46392046T>A NA hg19 0.02 6.475706 TGAxTCC COVERED NOVEL 0 7 3.946871 KEEP 0 1 34 25 797 TT 0.999957 0.999957 0 7 60 261 0 0 16.610956 172 60 6192 256 0.039106 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392490 46392490 __UNKNOWN__ IGR SNP G G C rs2128456 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46392490G>C NA NA None (None upstream) : ANKRD26P1 (110762 downstream) NA NA NA gatttcatttgatgatgattc 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46392490G>C NA hg19 0.02 -0.289366 TTTxATG UNCOVERED NOVEL 0 7 2.70891 KEEP 36 0 0 9 322 GG 0 0 0 3 27 114 0 0 8.597261 27 48 992 81 0.1 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392511 46392511 __UNKNOWN__ IGR SNP T T C rs4103657 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46392511T>C NA NA None (None upstream) : ANKRD26P1 (110741 downstream) NA NA NA cattcgatGATGATTACATTG 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46392511T>C NA hg19 0.02 -0.307054 TGAxGAT UNCOVERED NOVEL 0 9 3.610916 KEEP 45 0 0 12 380 TT 0 0 0 6 27 219 0 0 18.056738 26 48 953 99 0.1875 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46392784 46392784 __UNKNOWN__ IGR SNP A A T rs4967752 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46392784A>T NA NA None (None upstream) : ANKRD26P1 (110468 downstream) NA NA NA tgatgcttccattcaagtgca 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46392784A>T NA hg19 0.02 -0.25427 TCCxTTC COVERED NOVEL 0 4 2.708479 KEEP 7 0 0 9 293 AA 0.99257 0.663556 0 3 60 111 0 0 8.344033 26 60 946 59 0.103448 0.668523 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46393135 46393135 __UNKNOWN__ IGR SNP T T A rs2128450 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46393135T>A NA NA None (None upstream) : ANKRD26P1 (110117 downstream) NA NA NA atttgatgatttcatttgatt 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46393135T>A NA hg19 0.02 1.637255 GATxTCA COVERED NOVEL 0 15 8.123587 KEEP 13 0 0 27 833 TT 0.999892 0.999832 0 5 46 181 0 0 12.177543 82 51 2960 173 0.057471 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395013 46395013 __UNKNOWN__ IGR SNP T T C rs7199610|rs57604284 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46395013T>C NA NA None (None upstream) : ANKRD26P1 (108239 downstream) NA NA NA ttcgatgaaattcgatgatga 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46395013T>C NA hg19 0.02 -0.43865 AAAxTCG UNCOVERED NOVEL 0 4 2.407304 KEEP 15 0 0 8 251 TT 0 0 0 5 54 189 1 0 14.683999 36 60 1298 79 0.121951 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46395445 46395445 __UNKNOWN__ IGR SNP C C T rs4009095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46395445C>T NA NA None (None upstream) : ANKRD26P1 (107807 downstream) NA NA NA atgatgattccattcaattcc 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46395445C>T NA hg19 0.02 1.798377 TTCxATT COVERED NOVEL 0 6 2.439847 KEEP 6 1 34 20 678 CC 0.99986 0.999721 0 4 49 145 0 0 9.364651 83 60 3153 151 0.045977 0.999862 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46398767 46398767 __UNKNOWN__ IGR SNP G G C rs4258642 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46398767G>C NA NA None (None upstream) : ANKRD26P1 (104485 downstream) NA NA NA gattctattcgaaaatgattc 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46398767G>C NA hg19 0.02 -0.193012 TTCxAAA COVERED NOVEL 0 2 2.407681 KEEP 20 0 0 8 267 GG 0.99257 0.4869 0 7 24 265 0 0 24.034814 14 43 508 57 0.333333 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46399631 46399631 __UNKNOWN__ IGR SNP C C T rs4232920|rs142871302 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46399631C>T NA NA None (None upstream) : ANKRD26P1 (103621 downstream) NA NA NA ttccatttgacgacgattcca 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46399631C>T NA hg19 0.02 2.050828 TGAxGAC COVERED NOVEL 0 7 4.815003 KEEP 39 0 0 16 531 CC 0.992708 0.99227 0 7 44 250 0 0 17.880046 77 48 2584 161 0.083333 0.999559 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46401824 46401824 __UNKNOWN__ IGR SNP C C T rs4250080 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46401824C>T NA NA None (None upstream) : ANKRD26P1 (101428 downstream) NA NA NA tgattccattcgattccaatc 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46401824C>T NA hg19 0.02 2.313862 ATTxGAT COVERED NOVEL 0 8 3.912423 KEEP 13 0 0 13 436 CC 0.993072 0.967218 0 4 47 150 0 0 10.856255 46 50 1638 95 0.08 0.973965 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46402768 46402768 __UNKNOWN__ IGR SNP C C T rs4966926 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46402768C>T NA NA None (None upstream) : ANKRD26P1 (100484 downstream) NA NA NA tcgatgatttcattcgagtcc 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46402768C>T NA hg19 0.02 -0.315835 TTTxATT UNCOVERED NOVEL 0 4 3.912865 KEEP 31 0 0 13 466 CC 0 0 0 6 40 198 0 0 15.957072 26 40 1006 104 0.1875 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46403630 46403630 __UNKNOWN__ IGR SNP C C G rs13333352 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46403630C>G NA NA None (None upstream) : ANKRD26P1 (99622 downstream) NA NA NA ttcgatgattccattcaattc 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46403630C>G NA hg19 0.02 4.874895 ATTxCAT COVERED NOVEL 0 14 4.451052 KEEP 17 1 38 28 958 CC 0.999931 0.999927 0 5 60 200 0 0 13.574578 104 60 3918 192 0.045872 0.999996 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46403717 46403717 __UNKNOWN__ IGR SNP A A T rs150682234|rs6422043|rs71220399 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46403717A>T NA NA None (None upstream) : ANKRD26P1 (99535 downstream) NA NA NA attcgattccattcgacgatt 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46403717A>T NA hg19 0.02 6.557677 TCCxTTC COVERED NOVEL 0 23 13.174708 KEEP 10 1 32 55 1748 AA 1 1 0 8 60 297 1 0 19.661262 155 60 5682 310 0.04908 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46404673 46404673 __UNKNOWN__ IGR SNP A A G rs4284671 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46404673A>G NA NA None (None upstream) : ANKRD26P1 (98579 downstream) NA NA NA ccattcgatgataccattcaa 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46404673A>G NA hg19 0.02 1.965082 ATGxTAC UNCOVERED NOVEL 0 6 5.708769 KEEP 51 0 0 19 579 AA 0 0 0 4 40 149 0 0 10.203228 64 40 2351 142 0.058824 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406538 46406538 __UNKNOWN__ IGR SNP T T A rs28844912 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46406538T>A NA NA None (None upstream) : ANKRD26P1 (96714 downstream) NA NA NA ctcgattccattcgatgactc 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46406538T>A NA hg19 0.02 1.982632 CCAxTCG COVERED NOVEL 0 3 4.212909 KEEP 31 0 0 14 447 TT 0.99254 0.988801 0 5 24 188 0 0 13.67512 56 48 2024 137 0.081967 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46406575 46406575 __UNKNOWN__ IGR SNP G G T rs4453526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46406575G>T NA NA None (None upstream) : ANKRD26P1 (96677 downstream) NA NA NA atgatttcctgtgattccctt 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46406575G>T NA hg19 0.02 1.944315 CCTxTGA COVERED NOVEL 0 3 3.61182 KEEP 10 0 0 12 425 GG 0.993072 0.984099 0 14 34 491 0 0 43.196284 34 60 1276 93 0.291667 0.990964 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46407946 46407946 __UNKNOWN__ IGR SNP C C T rs4967208 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46407946C>T NA NA None (None upstream) : ANKRD26P1 (95306 downstream) NA NA NA cgattccaatcgatgatgatt 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46407946C>T NA hg19 0.02 -0.429845 AATxGAT COVERED NOVEL 0 5 3.611496 KEEP 21 0 0 12 404 CC 0.99257 0.9474 0 4 40 148 0 0 10.768507 43 40 1540 99 0.085106 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408468 46408468 __UNKNOWN__ IGR SNP T T C rs4249073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46408468T>C NA NA None (None upstream) : ANKRD26P1 (94784 downstream) NA NA NA ttccatttgatgattccatct 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46408468T>C NA hg19 0.02 1.356136 TGAxGAT UNCOVERED NOVEL 0 10 4.948223 KEEP 64 1 27 26 814 TT 0 0 0 5 23 164 0 0 10.380521 86 48 3139 194 0.054945 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46408513 46408513 __UNKNOWN__ IGR SNP A A C rs4451975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46408513A>C NA NA None (None upstream) : ANKRD26P1 (94739 downstream) NA NA NA attccattcgatgatgattcc 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46408513A>C NA hg19 0.02 2.073885 TCGxTGA UNCOVERED NOVEL 0 7 2.543462 KEEP 62 1 36 21 674 AA 0 0 0 6 24 226 0 0 16.775164 59 40 2102 165 0.092308 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420855 46420855 __UNKNOWN__ IGR SNP A A G rs4603741 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46420855A>G NA NA None (None upstream) : ANKRD26P1 (82397 downstream) NA NA NA atcaaatgaaattgaatggga 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46420855A>G NA hg19 0.02 -0.350886 GAAxTTG UNCOVERED NOVEL 0 4 3.009513 KEEP 17 0 0 10 328 AA 0 0 0 3 25 118 0 0 8.825376 31 40 1125 88 0.088235 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420883 46420883 __UNKNOWN__ IGR SNP T T G rs28833780 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46420883T>G NA NA None (None upstream) : ANKRD26P1 (82369 downstream) NA NA NA caaatgtaattgaatggtatc 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46420883T>G NA hg19 0.02 -0.421119 AATxGAA UNCOVERED NOVEL 0 3 3.009427 KEEP 19 0 0 10 325 TT 0 0 0 4 40 162 0 0 12.372492 38 35 1440 112 0.095238 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46420977 46420977 __UNKNOWN__ IGR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46420977T>A NA NA None (None upstream) : ANKRD26P1 (82275 downstream) NA NA NA tcaaatggaatcgaatggaat 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46420977T>A NA hg19 0.02 -0.228068 GAAxCGA UNCOVERED NOVEL 0 3 2.407615 KEEP 23 0 0 8 263 TT 0 0 0 2 40 83 0 0 6.636333 14 45 523 67 0.125 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46421742 46421742 __UNKNOWN__ IGR SNP T T C rs4249076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46421742T>C NA NA None (None upstream) : ANKRD26P1 (81510 downstream) NA NA NA aatggaatcatcatcgattgg 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46421742T>C NA hg19 0.02 -0.236872 TCAxCAT UNCOVERED NOVEL 0 3 2.406972 KEEP 19 0 0 8 239 TT 0 0 0 3 24 110 0 0 8.393734 23 27 825 57 0.115385 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46421750 46421750 __UNKNOWN__ IGR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46421750T>G NA NA None (None upstream) : ANKRD26P1 (81502 downstream) NA NA NA catcatcgattggaatcgaat 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46421750T>G NA hg19 0.02 -0.289513 GATxGGA UNCOVERED NOVEL 0 3 2.406626 KEEP 19 0 0 8 230 TT 0 0 0 3 24 120 0 0 9.107904 29 27 1040 64 0.09375 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46423087 46423087 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46423087A>T NA NA None (None upstream) : ANKRD26P1 (80165 downstream) NA NA NA caccgaattgaatcaaatgga 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46423087A>T NA hg19 0.02 -0.429872 TTGxATC COVERED NOVEL 0 9 6.920661 KEEP 14 0 0 23 745 AA 0.997832 0.952421 0 4 44 136 1 0 9.734636 39 45 1435 118 0.093023 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 46424820 46424820 __UNKNOWN__ IGR SNP C C G rs58999619 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:46424820C>G NA NA None (None upstream) : ANKRD26P1 (78432 downstream) NA NA NA gaatcattttcgaatagaatc 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.46424820C>G NA hg19 0.02 -0.16667 TTTxGAA UNCOVERED NOVEL 0 7 2.708607 KEEP 12 0 0 9 300 CC 0 0 0 3 49 106 0 0 8.981866 10 27 339 45 0.230769 0.353947 NETO2 81831 __UNKNOWN__ __UNKNOWN__ 16 47115857 47115857 __UNKNOWN__ 3'UTR SNP G G A rs372142096 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:47115857G>A ENST00000562435.1 - 0 3237 NETO2_ENST00000303155.5_3'UTR NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 NA NA regulation of kainate selective glutamate receptor activity (GO:2000312) kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) AAGTTATAGCGTCCAGGTCCA 0.343 NA HNSCC(25;0.065) G||| 1 0.000199681 0.0 0.0 5008 , , NA 17092 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK001292 CCDS10727.1, CCDS58460.1 16q11.2 2008-08-04 ENSG00000171208 ENSG00000171208 81831 14644 protein-coding gene gene with protein product 607974 NA 11943477 Standard NM_018092 NM_018092 NA Approved FLJ10430, NEOT2 uc002eer.2 Q8NC67 OTTHUMG00000133101 ENST00000562435.1:c.*1275C>T chr16.hg19:g.47115857G>A NA J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8 hg19 CCDS10727.1 0.02 8.188826 AGCxTCC COVERED NOVEL NETO2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256766.2 3 13.241323 KEEP 0 0 0 44 1501 GG 1 1 0 - 7 60 255 0 0 15.321333 217 60 7638 313 ENST00000562435.1 0.03125 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 48531171 48531171 __UNKNOWN__ IGR SNP G G T rs2062553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:48531171G>T NA NA snoU13 (4759 upstream) : N4BP1 (41465 downstream) NA NA NA TTCATTGTCCGCAGGAAAGGC 0.582 NA G||| 2729 0.544928 0.3411 0.5677 5008 , , NA 22016 0.8353 NA 0.4563 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.48531171G>T NA hg19 0.02 2.108823 TCCxCAG COVERED NOVEL 0 0 3.009449 KEEP 0 0 0 10 331 GG 0.992708 0.987171 0 5 60 185 0 0 13.197609 61 60 2073 90 0.075758 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 48531408 48531408 __UNKNOWN__ IGR SNP A A C rs2062554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:48531408A>C NA NA snoU13 (4996 upstream) : N4BP1 (41228 downstream) NA NA NA TAGAAACTGTATGGCAGCTGT 0.517 NA C||| 3284 0.655751 0.7337 0.6095 5008 , , NA 23359 0.8373 NA 0.4602 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.48531408A>C NA hg19 0.02 2.145195 TGTxTGG COVERED NOVEL 0 0 6.319022 KEEP 0 0 0 21 658 AA 0.999869 0.999799 0 6 60 232 0 0 16.317734 90 60 3264 146 0.0625 0.99993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 48532746 48532746 __UNKNOWN__ IGR SNP G G A rs11076569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:48532746G>A NA NA snoU13 (6334 upstream) : N4BP1 (39890 downstream) NA NA NA AGCCTTCCAGGACACTAAGTT 0.468 NA G||| 2748 0.548722 0.3517 0.572 5008 , , NA 20532 0.8373 NA 0.4563 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.48532746G>A NA hg19 0.02 -0.368467 CAGxACA COVERED NOVEL 0 0 4.514449 KEEP 0 0 0 15 514 GG 0.99649 0.896158 0 4 60 151 0 0 11.272901 38 60 1406 68 0.095238 0.899314 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 48752985 48752985 __UNKNOWN__ IGR SNP A A G rs957533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:48752985A>G NA NA RP11-42I10.1 (45596 upstream) : RNU6-257P (12629 downstream) NA NA NA TCCACTGCACAGACTCCAACT 0.517 NA G||| 3162 0.63139 0.7224 0.5476 5008 , , NA 19799 0.8433 NA 0.33 False NA ,,, NA NA NA 2504 0.6595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.48752985A>G NA hg19 0.02 6.694761 CACxGAC COVERED NOVEL 0 2 5.71767 KEEP 0 0 0 19 608 AA 0.99986 0.99986 0 11 60 378 0 0 25.791705 145 60 5440 213 0.070513 1 ZNF423 23090 __UNKNOWN__ __UNKNOWN__ 16 49525238 49525238 __UNKNOWN__ Intron SNP C C T rs12445683 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:49525238C>T ENST00000561648.1 - 8 3879 ZNF423_ENST00000562871.1_Intron|ZNF423_ENST00000535559.1_Intron|ZNF423_ENST00000567169.1_Intron|ZNF423_ENST00000262383.2_Intron|ZNF423_ENST00000563137.2_Intron|ZNF423_ENST00000562520.1_Intron NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 NA NA cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) AGAAAGGAGACACACATGAAG 0.537 NA C||| 417 0.0832668 0.0045 0.1542 5008 , , NA 16406 0.2837 NA 0.0139 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 C 17,4381 24.3+/-50.5 0,17,2182 133 110 117 4.3 1 16 dbSNP_120 117 18,8582 14.6+/-50.1 1,16,4283 no intron ZNF423 NM_015069.2 1,33,6465 TT,TC,CC 0.2093,0.3865,0.2693 49525238 35,12963 2199 4300 6499 SO:0001627 intron_variant AB018303 CCDS32445.1, CCDS61930.1 16q12 2014-01-28 ENSG00000102935 23090 Zinc fingers, C2H2-type 16762 protein-coding gene gene with protein product OLF-1/EBF associated zinc finger gene, Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein 604557 NA 9872452, 10660046 Standard NM_015069 NM_001271620 NA Approved KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19 uc031qwd.1 Q2M1K9 ENST00000561648.1:c.3826-23G>A chr16.hg19:g.49525238C>T NA O94860|Q76N04|Q9NZ13 hg19 CCDS32445.1 0.02 10.109308 AGAxACA COVERED NOVEL ZNF423-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000423258.1 2 21.068507 KEEP 0 0 0 70 2499 CC 1 1 0 - 8 60 291 0 0 16.908502 292 60 10860 474 ENST00000561648.1 0.026667 1 ZNF423 23090 __UNKNOWN__ __UNKNOWN__ 16 49672775 49672775 __UNKNOWN__ Silent SNP G G A rs117266679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:49672775G>A ENST00000561648.1 - 4 341 c.288C>T c.(286-288)gaC>gaT p.D96D ZNF423_ENST00000562871.1_Silent_p.D36D|ZNF423_ENST00000535559.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000567169.1_De_novo_Start_OutOfFrame|ZNF423_ENST00000262383.2_Silent_p.D96D|ZNF423_ENST00000563137.2_Silent_p.D36D|ZNF423_ENST00000562520.1_Silent_p.D36D NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 96 NA cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GTTGTGGGTCGTCATCACCAT 0.592 NA G||| 20 0.00399361 0.0 0.0029 5008 , , NA 17795 0.0139 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G 0,4396 0,0,2198 48 43 45 288 4.5 1 16 dbSNP_132 45 21,8579 16.0+/-53.3 0,21,4279 no coding-synonymous ZNF423 NM_015069.2 0,21,6477 AA,AG,GG 0.2442,0.0,0.1616 96/1285 49672775 21,12975 2198 4300 6498 SO:0001819 synonymous_variant AB018303 CCDS32445.1, CCDS61930.1 16q12 2014-01-28 ENSG00000102935 23090 Zinc fingers, C2H2-type 16762 protein-coding gene gene with protein product OLF-1/EBF associated zinc finger gene, Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein 604557 NA 9872452, 10660046 Standard NM_015069 NM_001271620 NA Approved KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19 uc031qwd.1 Q2M1K9 ENST00000561648.1:c.288C>T chr16.hg19:g.49672775G>A NA O94860|Q76N04|Q9NZ13 hg19 CCDS32445.1 0.02 22.008363 GTCxTCA COVERED NOVEL ZNF423-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000423258.1 0 39.427198 KEEP 0 0 0 131 4578 GG 1 1 0 - 16 60 583 0 0 35.097944 494 60 17666 854 ENST00000561648.1 0.031373 1 ZNF423 23090 __UNKNOWN__ __UNKNOWN__ 16 49764948 49764948 __UNKNOWN__ Intron SNP C C T rs2292155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:49764948C>T ENST00000561648.1 - 3 130 ZNF423_ENST00000562871.1_Intron|ZNF423_ENST00000262383.2_Intron|ZNF423_ENST00000563137.2_Intron|ZNF423_ENST00000562520.1_Intron NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 NA NA cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TTAAAAGAATCGCCCGGCATT 0.438 NA C||| 1788 0.357029 0.5023 0.3156 5008 , , NA 18753 0.251 NA 0.3569 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018303 CCDS32445.1, CCDS61930.1 16q12 2014-01-28 ENSG00000102935 23090 Zinc fingers, C2H2-type 16762 protein-coding gene gene with protein product OLF-1/EBF associated zinc finger gene, Smad- and Olf-interacting zinc finger protein, early B-cell factor associated zinc finger protein 604557 NA 9872452, 10660046 Standard NM_015069 NM_001271620 NA Approved KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19 uc031qwd.1 Q2M1K9 ENST00000561648.1:c.77-66G>A chr16.hg19:g.49764948C>T NA O94860|Q76N04|Q9NZ13 hg19 CCDS32445.1 0.02 1.845663 AATxGCC COVERED NOVEL ZNF423-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000423258.1 1 4.512734 KEEP 0 0 0 15 459 CC 0.99649 0.99642 0 - 7 60 262 0 0 18.655772 89 60 2942 112 ENST00000561648.1 0.072917 0.99993 ADCY7 113 __UNKNOWN__ __UNKNOWN__ 16 50328526 50328526 __UNKNOWN__ Intron SNP C C T rs2302717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50328526C>T ENST00000394697.2 + 7 1176 ADCY7_ENST00000254235.3_Intron|ADCY7_ENST00000566433.2_Intron|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000538642.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) CTCTGACACTCCCTCCCACCC 0.652 NA C||| 2078 0.414936 0.2179 0.366 5008 , , NA 14283 0.8036 NA 0.2058 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 C 993,3401 109,775,1313 30 24 26 0 0 16 dbSNP_100 26 1652,6942 169,1314,2814 no intron ADCY7 NM_001114.3 278,2089,4127 TT,TC,CC 19.2227,22.599,20.365 50328526 2645,10343 2197 4297 6494 SO:0001627 intron_variant D25538 CCDS10741.1, CCDS73882.1 16q12.1 2013-02-04 ENSG00000121281 ENSG00000121281 113 4.6.1.1 Adenylate cyclases 238 protein-coding gene gene with protein product 600385 NA 7860067 Standard NM_001286057 NA Approved KIAA0037, AC7 uc002egd.1 P51828 OTTHUMG00000133172 ENST00000394697.2:c.837-25C>T chr16.hg19:g.50328526C>T NA A0AVA6 hg19 CCDS10741.1 0.02 -0.245654 ACTxCCT COVERED NOVEL ADCY7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256877.3 0 3.912553 KEEP 0 0 0 13 454 CC 0.994391 0.63775 0 + 3 60 106 0 0 7.891561 25 60 964 51 ENST00000394697.2 0.107143 0.641347 ADCY7 113 __UNKNOWN__ __UNKNOWN__ 16 50338723 50338723 __UNKNOWN__ Intron SNP C C T rs34493825|rs9924714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50338723C>T ENST00000394697.2 + 12 1900 ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Intron|ADCY7_ENST00000566433.2_Intron|ADCY7_ENST00000538642.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) TGGACGACCCCGACACCTTGT 0.577 NA C||| 1671 0.333666 0.4304 0.3862 5008 , , NA 18306 0.3294 NA 0.2187 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D25538 CCDS10741.1, CCDS73882.1 16q12.1 2013-02-04 ENSG00000121281 ENSG00000121281 113 4.6.1.1 Adenylate cyclases 238 protein-coding gene gene with protein product 600385 NA 7860067 Standard NM_001286057 NA Approved KIAA0037, AC7 uc002egd.1 P51828 OTTHUMG00000133172 ENST00000394697.2:c.1561-113C>T chr16.hg19:g.50338723C>T NA A0AVA6 hg19 CCDS10741.1 0.02 6.350555 CCCxGAC COVERED NOVEL ADCY7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256877.3 0 7.255644 KEEP 0 1 28 34 1183 CC 0.999999 0.999999 0 + 11 60 347 0 0 21.93423 173 60 6084 258 ENST00000394697.2 0.059783 1 ADCY7 113 __UNKNOWN__ __UNKNOWN__ 16 50339289 50339289 __UNKNOWN__ Intron SNP C C T rs12444679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50339289C>T ENST00000394697.2 + 13 1935 ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Intron|ADCY7_ENST00000566433.2_Intron|ADCY7_ENST00000538642.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) CTCAGTGGGACCCACCCATTC 0.652 NA C||| 1522 0.303914 0.3253 0.3746 5008 , , NA 18359 0.3294 NA 0.2167 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D25538 CCDS10741.1, CCDS73882.1 16q12.1 2013-02-04 ENSG00000121281 ENSG00000121281 113 4.6.1.1 Adenylate cyclases 238 protein-coding gene gene with protein product 600385 NA 7860067 Standard NM_001286057 NA Approved KIAA0037, AC7 uc002egd.1 P51828 OTTHUMG00000133172 ENST00000394697.2:c.1596-125C>T chr16.hg19:g.50339289C>T NA A0AVA6 hg19 CCDS10741.1 0.02 4.065402 GGAxCCA COVERED NOVEL ADCY7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256877.3 0 3.74289 KEEP 0 1 30 23 799 CC 0.999909 0.999909 0 + 12 60 429 0 0 30.924978 126 60 4596 181 ENST00000394697.2 0.086957 1 ADCY7 113 __UNKNOWN__ __UNKNOWN__ 16 50342733 50342733 __UNKNOWN__ Intron SNP C C T rs373637597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50342733C>T ENST00000394697.2 + 17 2401 ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Intron|ADCY7_ENST00000566433.2_Intron|ADCY7_ENST00000538642.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 NA NA activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) GGCAGGCCTCCGGGGTAGAGG 0.642 NA C||| 7 0.00139776 0.0008 0.0 5008 , , NA 17328 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4395 2.1+/-5.4 0,1,2197 30 31 30 3.9 0 16 30 1,8599 1.2+/-3.3 0,1,4299 no intron ADCY7 NM_001114.3 0,2,6496 TT,TC,CC 0.0116,0.0227,0.0154 50342733 2,12994 2198 4300 6498 SO:0001627 intron_variant D25538 CCDS10741.1, CCDS73882.1 16q12.1 2013-02-04 ENSG00000121281 ENSG00000121281 113 4.6.1.1 Adenylate cyclases 238 protein-coding gene gene with protein product 600385 NA 7860067 Standard NM_001286057 NA Approved KIAA0037, AC7 uc002egd.1 P51828 OTTHUMG00000133172 ENST00000394697.2:c.2061+30C>T chr16.hg19:g.50342733C>T NA A0AVA6 hg19 CCDS10741.1 0.02 4.17387 CTCxGGG COVERED NOVEL ADCY7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256877.3 1 14.989426 KEEP 0 0 0 50 1604 CC 1 1 0 + 5 60 180 0 0 11.088882 131 60 4518 228 ENST00000394697.2 0.036765 1 NOD2 64127 __UNKNOWN__ __UNKNOWN__ 16 50744624 50744624 __UNKNOWN__ Missense_Mutation SNP C C T rs2066842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50744624C>T ENST00000300589.2 + 4 907 c.802C>T c.(802-804)Ccc>Tcc p.P268S NOD2_ENST00000526417.2_3'UTR NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 268 NA P -> S (in dbSNP:rs2066842). {ECO:0000269|PubMed:11385576}. activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982) ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) CATGGCTGGACCCCCGCAGAA 0.612 NA C||| 511 0.102037 0.0272 0.1671 5008 , , NA 19857 0.0079 NA 0.2465 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 GRCh37 CM086337 NOD2 M rs2066842 C SER/PRO 255,4141 145.0+/-179.8 10,235,1953 41 41 41 802 -8.3 0 16 dbSNP_94 41 2314,6286 384.6+/-341.2 323,1668,2309 yes missense NOD2 NM_022162.1 74 333,1903,4262 TT,TC,CC 26.907,5.8007,19.7676 benign 268/1041 50744624 2569,10427 2198 4300 6498 SO:0001583 missense AF178930 CCDS10746.1 16q12 2014-09-17 2006-12-08 2006-12-08 ENSG00000167207 ENSG00000167207 64127 Nucleotide-binding domain and leucine rich repeat containing 5331 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2 605956 caspase recruitment domain family, member 15 IBD1, CARD15 NA 7809109, 8587604 Standard NM_022162 XM_005256084 NA Approved BLAU, CD, PSORAS1, CLR16.3, NLRC2 uc002egm.1 Q9HC29 OTTHUMG00000133171 ENST00000300589.2:c.802C>T chr16.hg19:g.50744624C>T ENSP00000300589:p.Pro268Ser NA E2JEQ6|Q96RH5|Q96RH6|Q96RH8 hg19 CCDS10746.1 0.02 8.814309 GGAxCCC COVERED 273 0.125 18 0.036585365853658534 70 0.19337016574585636 1 0.0017482517482517483 184 0.24274406332453827 C 0.009 -1.852658 0.00563 0.058007 0.26907 ENSG00000167207 ENST00000526417;ENST00000300589 T 0.68479 -0.33 5.04 -8.34 0.00988 . 1.528330 0.03492 N 0.216716 T 0.00012 0.0000 L 0.38838 1.175 0.80722 P 0.0 B;B;B 0.18610 0.004;0.029;0.017 B;B;B 0.14023 0.002;0.01;0.004 T 0.04115 -1.0976 9 0.09843 T 0.71 . 7.1073 0.25370 0.0:0.1971:0.339:0.4638 rs2066842;rs17312885;rs2066842 52;241;268 D6CHF9;Q9HC29-2;Q9HC29 .;.;NOD2_HUMAN S 241;268 ENSP00000300589:P268S ENSP00000300589:P268S P + 1 0 NOD2 49302125 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -1.762000 0.01803 -1.444000 0.01950 -0.448000 0.05591 CCC NOVEL NOD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256876.2 2 9.610494 KEEP 0 0 0 32 1095 CC 0.999997 0.999997 0 + 11 60 396 0 0 25.87301 210 60 7654 312 ENST00000300589.2 0.049774 1 NOD2 64127 __UNKNOWN__ __UNKNOWN__ 16 50745199 50745199 __UNKNOWN__ Silent SNP C C T rs2066843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50745199C>T ENST00000300589.2 + 4 1482 c.1377C>T c.(1375-1377)cgC>cgT p.R459R NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 459 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. NA activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982) ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901) cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) TGAGGAAGCGCCATCATGAGC 0.617 NA C||| 539 0.107628 0.0477 0.1671 5008 , , NA 17950 0.0079 NA 0.2475 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 C 294,4102 153.3+/-186.9 13,268,1917 68 72 70 1377 0.9 0.7 16 dbSNP_94 70 2330,6268 370.2+/-335.8 328,1674,2297 no coding-synonymous NOD2 NM_022162.1 341,1942,4214 TT,TC,CC 27.0993,6.6879,20.1939 459/1041 50745199 2624,10370 2198 4299 6497 SO:0001819 synonymous_variant AF178930 CCDS10746.1 16q12 2014-09-17 2006-12-08 2006-12-08 ENSG00000167207 ENSG00000167207 64127 Nucleotide-binding domain and leucine rich repeat containing 5331 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2, NOD-like receptor C2, NLR family, CARD domain containing 2 605956 caspase recruitment domain family, member 15 IBD1, CARD15 NA 7809109, 8587604 Standard NM_022162 XM_005256084 NA Approved BLAU, CD, PSORAS1, CLR16.3, NLRC2 uc002egm.1 Q9HC29 OTTHUMG00000133171 ENST00000300589.2:c.1377C>T chr16.hg19:g.50745199C>T NA E2JEQ6|Q96RH5|Q96RH6|Q96RH8 hg19 CCDS10746.1 0.02 13.844941 GCGxCAT COVERED NOVEL NOD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256876.2 5 26.48489 KEEP 0 0 0 88 3091 CC 1 1 0 + 12 60 419 0 0 24.935253 339 60 12521 553 ENST00000300589.2 0.034188 1 CYLD 1540 __UNKNOWN__ __UNKNOWN__ 16 50827601 50827601 __UNKNOWN__ Intron SNP A A G rs2302759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50827601A>G ENST00000398568.2 + 16 2760 CYLD_ENST00000540145.1_Intron|CYLD_ENST00000566206.1_Intron|CYLD_ENST00000568704.2_Intron|RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Intron|CYLD_ENST00000564326.1_Intron|CYLD_ENST00000569418.1_Intron|CYLD_ENST00000427738.3_Intron NM_001042412.1 NP_001035877.1 Q9NQC7 CYLD_HUMAN cylindromatosis (turban tumor syndrome) NA NA cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055) centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634) Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1) 62 all_cancers(37;0.0156) CTTAATGGATAAACTTTTGTT 0.328 NA Mis, N, F, S cylindroma cylindroma Multiple Trichoepithelioma, Familial;Familial Cylindromatosis G||| 3998 0.798323 0.9826 0.7795 5008 , , NA 19085 0.7034 NA 0.827 False NA ,,, NA NA NA 2504 0.6309 NA NA NA yes Rec yes Familial cylindromatosis 16 16q12-q13 1540 familial cylindromatosis gene E 0 G ,, 3536,148 1695,146,1 76 71 72 ,, -5.8 0 16 dbSNP_100 72 6690,1478 2750,1190,144 no intron,intron,intron CYLD NM_001042355.1,NM_001042412.1,NM_015247.2 ,, 4445,1336,145 GG,GA,AA 18.095,4.0174,13.7192 ,, ,, 50827601 10226,1626 1842 4084 5926 SO:0001627 intron_variant Familial Cancer Database ;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s. AB020656 CCDS42164.1, CCDS45482.1 16q12-q13 2014-09-17 1540 2584 protein-coding gene gene with protein product ubiquitin specific peptidase like 2 605018 CYLD1 NA 7493027 Standard NM_015247 NA Approved KIAA0849, USPL2 uc002egq.1 Q9NQC7 ENST00000398568.2:c.2460+26A>G chr16.hg19:g.50827601A>G NA O94934|Q7L3N6|Q96EH0|Q9NZX9 hg19 CCDS42164.1 0.02 6.99224 GATxAAC COVERED NOVEL CYLD-005 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000422997.1 1 12.332831 KEEP 0 0 0 41 1199 AA 1 1 0 + 11 60 418 0 0 29.098874 168 60 6031 249 ENST00000398568.2 0.061453 1 RP11-327F22.5 0 __UNKNOWN__ __UNKNOWN__ 16 50841386 50841386 __UNKNOWN__ lincRNA SNP C C T rs74753645 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:50841386C>T ENST00000565327.1 + 0 198 NA NA NA AGAGGCTTCCCGCCCCCTCAC 0.512 NA C||| 397 0.0792732 0.0492 0.0432 5008 , , NA 14700 0.0556 NA 0.0527 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000565327.1: chr16.hg19:g.50841386C>T NA hg19 0.02 2.116043 TCCxGCC COVERED NOVEL RP11-327F22.5-001 KNOWN basic|exp_conf lincRNA NA lincRNA OTTHUMT00000423006.1 2 6.919994 KEEP 0 0 0 23 727 CC 0.999892 0.99966 0 + 5 60 159 0 0 10.186741 83 60 2946 155 ENST00000565327.1 0.056818 0.999768 RBL2 5934 __UNKNOWN__ __UNKNOWN__ 16 53498223 53498223 __UNKNOWN__ Missense_Mutation SNP A A T rs140896175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:53498223A>T ENST00000262133.6 + 12 1783 c.1646A>T c.(1645-1647)aAt>aTt p.N549I RBL2_ENST00000544545.1_Missense_Mutation_p.N333I|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 549 Domain A.|Pocket; binds E1A. NA chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCTCCTGGGAATTTTCCATTT 0.343 NA A||| 64 0.0127796 0.0 0.0 5008 , , NA 15353 0.0625 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 89 91 90 NA NA 16 NA 53498223 2198 4300 6498 SO:0001583 missense X74594 CCDS10748.1 16q12.2 2014-03-11 2014-03-11 ENSG00000103479 ENSG00000103479 5934 9894 protein-coding gene gene with protein product 180203 NA 8361765, 8643454 Standard NM_005611 NM_005611 NA Approved Rb2, p130 uc002ehi.4 Q08999 OTTHUMG00000133198 ENST00000262133.6:c.1646A>T chr16.hg19:g.53498223A>T ENSP00000262133:p.Asn549Ile NA B7Z913|Q15073|Q16084|Q8NE70|Q92812 hg19 CCDS10748.1 0.02 9.352566 GGAxTTT COVERED 26 0.011904761904761904 0 0.0 0 0.0 26 0.045454545454545456 0 0.0 A 13.95 2.389421 0.42410 . . ENSG00000103479 ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545 D;D;D 0.87571 -2.27;-2.27;-2.27 5.86 5.86 0.93980 Retinoblastoma-associated protein, A-box (1);Cyclin-like (2); 0.142687 0.64402 D 0.000007 T 0.62938 0.2469 L 0.59436 1.845 0.33428 D 0.580804 P;B;B;D 0.54397 0.934;0.027;0.116;0.966 P;B;B;P 0.52856 0.711;0.063;0.063;0.69 D 0.84277 0.0492 10 0.72032 D 0.01 -25.859 10.3776 0.44092 0.8855:0.0:0.1145:0.0 . 333;549;259;549 B7Z913;Q8NE70;E9PG04;Q08999 .;.;.;RBL2_HUMAN I 549;475;259;333 ENSP00000262133:N549I;ENSP00000443744:N475I;ENSP00000444685:N333I ENSP00000262133:N549I N + 2 0 RBL2 52055724 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.175000 0.42491 2.241000 0.73720 0.528000 0.53228 AAT NOVEL RBL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256908.3 1 21.363717 KEEP 0 0 0 71 2221 AA 1 1 0 + 11 60 374 0 0 22.456164 273 60 10101 475 ENST00000262133.6 0.038732 1 RPGRIP1L 23322 __UNKNOWN__ __UNKNOWN__ 16 53639438 53639438 __UNKNOWN__ Missense_Mutation SNP C C T rs3213758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:53639438C>T ENST00000262135.4 - 24 3643 c.3550G>A c.(3550-3552)Gac>Aac p.D1184N RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D1218N|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D1264N|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1230N NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 1264 NA camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589) axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923) thromboxane A2 receptor binding (GO:0031870) p.D1264N(1) endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TGAAACATGTCGGCAAGGTCG 0.532 NA c||| 496 0.0990415 0.0068 0.0461 5008 , , NA 18644 0.3125 NA 0.0636 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T ASN/ASP,ASN/ASP 59,4337 56.2+/-92.4 0,59,2139 187 140 156 3550,3790 1.6 0 16 dbSNP_106 156 474,8126 140.5+/-197.0 12,450,3838 yes missense,missense RPGRIP1L NM_001127897.1,NM_015272.2 23,23 12,509,5977 TT,TC,CC 5.5116,1.3421,4.1013 benign,benign 1184/1236,1264/1316 53639438 533,12463 2198 4300 6498 SO:0001583 missense CCDS32447.1, CCDS45486.1 16q12.2 2014-09-17 ENSG00000103494 23322 29168 protein-coding gene gene with protein product fantom homolog, Meckel syndrome, type 5, protein phosphatase 1, regulatory subunit 134 610937 NA 10231032 Standard NM_015272 NM_015272 NA Approved KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134 uc002ehp.3 Q68CZ1 ENST00000262135.4:c.3550G>A chr16.hg19:g.53639438C>T ENSP00000262135:p.Asp1184Asn NA A0PJ88|Q9Y2K8 hg19 CCDS45486.1 0.02 10.572938 TGTxGGC COVERED 220 0.10073260073260074 6 0.012195121951219513 13 0.03591160220994475 154 0.2692307692307692 47 0.06200527704485488 c 6.690 0.495913 0.12762 0.013421 0.055116 ENSG00000103494 ENST00000379925;ENST00000262135 T;T 0.69806 -0.43;-0.43 5.81 1.6 0.23607 . 0.427079 0.24552 N 0.037548 T 0.00012 0.0000 N 0.24115 0.695 0.58432 P 1.0000000000287557E-6 B;D 0.52996 0.007;0.957 B;B 0.38985 0.005;0.287 T 0.10917 -1.0609 9 0.40728 T 0.16 -0.6026 11.031 0.47772 0.0:0.7119:0.0923:0.1959 rs3213758;rs61235315;rs3213758 1264;1184 Q68CZ1;Q68CZ1-2 FTM_HUMAN;. N 1264;1184 ENSP00000369257:D1264N;ENSP00000262135:D1184N ENSP00000262135:D1184N D - 1 0 RPGRIP1L 52196939 0.073000 0.21202 0.000000 0.03702 0.007000 0.05969 1.190000 0.32126 -0.097000 0.12307 -2.426000 0.00216 GAC NOVEL RPGRIP1L-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422186.1 2 10.833137 KEEP 0 0 0 36 1192 CC 0.999999 0.999999 0 - 16 60 566 0 0 37.886654 254 60 8713 367 ENST00000262135.4 0.059259 1 FTO 79068 __UNKNOWN__ __UNKNOWN__ 16 53945351 53945351 __UNKNOWN__ Intron SNP G G A rs2287142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:53945351G>A ENST00000471389.1 + 7 1461 FTO_ENST00000460382.1_Intron|FTO_ENST00000463855.1_Silent_p.K20K|FTO_ENST00000431610.2_Intron|FTO_ENST00000394647.3_Intron NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated NA NA adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659) nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515) endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AAGTTAAGAAGTGGCCATACC 0.473 NA G||| 514 0.102636 0.0038 0.1326 5008 , , NA 22612 0.3274 NA 0.003 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003583 CCDS32448.1 16q12.2 2013-11-15 ENSG00000140718 ENSG00000140718 79068 Alkylation repair homologs 24678 protein-coding gene gene with protein product AlkB homolog 9, alpha-ketoglutarate-dependent dioxygenase 610966 NA 17434869, 17991826, 22002720 Standard NM_001080432 NM_001080432 NA Approved KIAA1752, MGC5149, ALKBH9 uc002ehr.3 Q9C0B1 OTTHUMG00000158780 ENST00000471389.1:c.1239+22488G>A chr16.hg19:g.53945351G>A NA A2RUH1|B2RNS0|Q0P676|Q7Z785 hg19 CCDS32448.1 0.02 17.699072 GAAxTGG COVERED NOVEL FTO-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000352196.1 2 21.068619 KEEP 0 0 0 70 2521 GG 1 1 0 + 18 60 666 0 0 42.471269 427 60 16045 623 ENST00000471389.1 0.040449 1 IRX6 79190 __UNKNOWN__ __UNKNOWN__ 16 55360283 55360283 __UNKNOWN__ Silent SNP C C T rs76065668 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55360283C>T ENST00000290552.7 + 2 1413 c.81C>T c.(79-81)tgC>tgT p.C27C IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 27 NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCACATGCTGCGAATCTACCC 0.647 NA C||| 93 0.0185703 0.0 0.0 5008 , , NA 10855 0.0843 NA 0.006 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 2,4394 4.2+/-10.8 0,2,2196 55 52 53 81 0.8 1 16 dbSNP_131 53 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous IRX6 NM_024335.2 0,4,6494 TT,TC,CC 0.0233,0.0455,0.0308 27/447 55360283 4,12992 2198 4300 6498 SO:0001819 synonymous_variant AF319966 CCDS32449.1 16q12.2 2011-06-20 2007-07-13 2003-01-10 ENSG00000159387 79190 Homeoboxes / TALE class 14675 protein-coding gene gene with protein product 606196 iroquois homeobox protein 7, iroquois homeobox protein 6 IRX7 NA Standard NM_024335 NM_024335 NA Approved IRX-3 uc002ehy.3 P78412 ENST00000290552.7:c.81C>T chr16.hg19:g.55360283C>T NA B2RN06|Q7Z2K0 hg19 CCDS32449.1 0.02 6.13196 CTGxGAA COVERED NOVEL IRX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417445.4 3 11.136215 KEEP 0 0 0 37 1315 CC 1 1 0 + 7 60 246 0 0 15.642807 144 60 5329 248 ENST00000290552.7 0.046358 1 IRX6 79190 __UNKNOWN__ __UNKNOWN__ 16 55360297 55360297 __UNKNOWN__ Missense_Mutation SNP G G A rs74412242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55360297G>A ENST00000290552.7 + 2 1427 c.95G>A c.(94-96)cGc>cAc p.R32H IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 32 NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) p.Q31fs*20(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 TCTACCCAACGCTCTGTCTCA 0.637 NA G||| 93 0.0185703 0.0 0.0 5008 , , NA 11365 0.0843 NA 0.006 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 1 Deletion - Frameshift(1) central_nervous_system(1) G HIS/ARG 2,4394 4.2+/-10.8 0,2,2196 56 52 53 95 3.2 0.1 16 dbSNP_131 53 2,8598 2.2+/-6.3 0,2,4298 yes missense IRX6 NM_024335.2 29 0,4,6494 AA,AG,GG 0.0233,0.0455,0.0308 probably-damaging 32/447 55360297 4,12992 2198 4300 6498 SO:0001583 missense AF319966 CCDS32449.1 16q12.2 2011-06-20 2007-07-13 2003-01-10 ENSG00000159387 79190 Homeoboxes / TALE class 14675 protein-coding gene gene with protein product 606196 iroquois homeobox protein 7, iroquois homeobox protein 6 IRX7 NA Standard NM_024335 NM_024335 NA Approved IRX-3 uc002ehy.3 P78412 ENST00000290552.7:c.95G>A chr16.hg19:g.55360297G>A ENSP00000290552:p.Arg32His NA B2RN06|Q7Z2K0 hg19 CCDS32449.1 0.02 6.385585 AACxCTC COVERED 166 0.076007326007326 44 0.08943089430894309 12 0.03314917127071823 70 0.12237762237762238 40 0.052770448548812667 G 12.79 2.043392 0.36085 4.55E-4 2.33E-4 ENSG00000159387 ENST00000290552 D 0.85629 -2.01 5.19 3.24 0.37175 . 1.060040 0.07363 N 0.884403 T 0.06962 0.0177 M 0.72118 2.19 0.44880 D 0.997899 P 0.35551 0.509 B 0.28553 0.091 T 0.48198 -0.9056 10 0.59425 D 0.04 -6.19 11.0586 0.47933 0.1512:0.0:0.8488:0.0 . 32 P78412 IRX6_HUMAN H 32 ENSP00000290552:R32H ENSP00000290552:R32H R + 2 0 IRX6 53917798 0.999000 0.42202 0.107000 0.21349 0.123000 0.20343 2.214000 0.42853 0.771000 0.33359 0.462000 0.41574 CGC NOVEL IRX6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000417445.4 3 12.339586 KEEP 0 0 0 41 1408 GG 1 1 0 + 8 60 292 0 0 18.831646 171 60 5875 296 ENST00000290552.7 0.044693 1 LPCAT2 54947 __UNKNOWN__ __UNKNOWN__ 16 55618451 55618451 __UNKNOWN__ 3'UTR SNP A A G rs1393261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55618451A>G ENST00000262134.5 + 0 3260 NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 NA NA glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509) endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 GAACCAATTTATTAATATAAT 0.294 NA A||| 3116 0.622204 0.6248 0.4769 5008 , , NA 15225 0.7569 NA 0.5119 False NA ,,, NA NA NA 2504 0.6963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000488 CCDS10753.1 16q12.2 2013-01-10 2007-12-17 2007-12-17 ENSG00000087253 ENSG00000087253 54947 EF-hand domain containing 26032 protein-coding gene gene with protein product 612040 acyltransferase like 1 AYTL1 NA 16704971 Standard NM_017839 NM_017839 NA Approved FLJ20481 uc002eie.4 Q7L5N7 OTTHUMG00000133238 ENST00000262134.5:c.*1441A>G chr16.hg19:g.55618451A>G NA A3KBM1|Q6MZJ6|Q9NX23 hg19 CCDS10753.1 0.02 6.351611 TTTxTTA COVERED NOVEL LPCAT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256977.2 2 6.618319 KEEP 0 0 0 22 662 AA 0.999879 0.999879 0 + 6 60 217 0 0 13.090269 178 60 6367 228 ENST00000262134.5 0.032609 1 SLC6A2 6530 __UNKNOWN__ __UNKNOWN__ 16 55737520 55737520 __UNKNOWN__ 3'UTR SNP G G A rs145197048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55737520G>A ENST00000379906.2 + 0 3371 SLC6A2_ENST00000414754.3_3'UTR|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000567238.1_3'UTR NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 NA NA monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886) monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334) breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285) GTGGTGTTTAGTTTTAGTTCC 0.418 NA OREG0023808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 11 0.00219649 0.0 0.0 5008 , , NA 18084 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10754.1, CCDS54011.1, CCDS58463.1 16q12.2 2013-07-19 2013-07-19 ENSG00000103546 ENSG00000103546 6530 Solute carriers 11048 protein-coding gene gene with protein product norepinephrine transporter 163970 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 NET1, NAT1, SLC6A5 NA 2008212 Standard NM_001043 NA Approved NET uc021tio.1 P23975 OTTHUMG00000133208 ENST00000379906.2:c.*1262G>A chr16.hg19:g.55737520G>A 1010 B2R707|B4DX48|Q96KH8 hg19 CCDS10754.1 0.02 4.580558 TTAxTTT COVERED NOVEL SLC6A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256922.2 2 5.116365 KEEP 0 0 0 17 583 GG 0.999366 0.99934 0 + 6 60 216 0 0 14.556161 96 60 3609 131 ENST00000379906.2 0.058824 0.999973 CES1 1066 __UNKNOWN__ __UNKNOWN__ 16 55857452 55857452 __UNKNOWN__ Intron SNP G G A rs147055479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55857452G>A ENST00000360526.3 - 4 642 CES1_ENST00000566555.1_Intron|CES1_ENST00000361503.4_Intron|CES1_ENST00000422046.2_Intron NM_001025194.1|NM_001025195.1|NM_001266.4 NP_001020365.1|NP_001020366.1|NP_001257.4 P23141 EST1_HUMAN carboxylesterase 1 NA NA epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636) endoplasmic reticulum (GO:0005783) carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374) NA all cancers(182;0.13)|Epithelial(162;0.137) Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519) AGGAGAGTCCGATTTCTTACC 0.547 NA NA NA NA NA NA NA NA NA NA NSCLC(162;1801 2756 42904 52896) NA 0 98 124 115 NA NA 16 NA 55857452 2116 4296 6412 SO:0001627 intron_variant BC012418 CCDS32450.1, CCDS45488.1, CCDS45489.1 16q22.2 2010-10-12 2010-10-12 ENSG00000198848 ENSG00000198848 1066 3.1.1.1 Carboxylesterases 1863 protein-coding gene gene with protein product human monocyte/macrophage serine esterase 1 114835 carboxylesterase 1 (monocyte/macrophage serine esterase 1) NA 2070086, 20931200 Standard NM_001266 XM_005255774 NA Approved HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2 uc002eil.3 P23141 ENST00000360526.3:c.539+9C>T chr16.hg19:g.55857452G>A NA A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2 hg19 CCDS32450.1 0.02 15.327835 TCCxATT COVERED NOVEL CES1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000433282.2 1 9.630342 KEEP 28 0 0 32 1058 GG 0.999997 0.999997 0 - 22 47 768 0 0 51.575057 330 60 11099 478 ENST00000360526.3 0.0625 1 CES5A 221223 __UNKNOWN__ __UNKNOWN__ 16 55880480 55880480 __UNKNOWN__ Missense_Mutation SNP A A C rs11860456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55880480A>C ENST00000521992.1 - 14 1843 c.1698T>G c.(1696-1698)gaT>gaG p.D566E CES5A_ENST00000520435.1_Missense_Mutation_p.D507E|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.D487E|CES5A_ENST00000290567.9_Missense_Mutation_p.D537E|CES5A_ENST00000518005.1_Missense_Mutation_p.D431E NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 537 NA extracellular region (GO:0005576) carboxylic ester hydrolase activity (GO:0052689) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TGGTCCAAAAATCCACCCGCG 0.522 NA C||| 1624 0.324281 0.4977 0.1988 5008 , , NA 16733 0.2817 NA 0.2793 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 C GLU/ASP,GLU/ASP,GLU/ASP 2089,2307 490,1109,599 211 208 209 1611,1698,1461 2.6 0.2 16 dbSNP_120 209 2086,6514 265,1556,2479 yes missense,missense,missense CES5A NM_001143685.1,NM_001190158.1,NM_145024.2 45,45,45 755,2665,3078 CC,CA,AA 24.2558,47.5205,32.1253 benign,benign,benign 537/576,566/605,487/526 55880480 4175,8821 2198 4300 6498 SO:0001583 missense AK090997 CCDS10755.1, CCDS45490.1, CCDS54012.1 16q13 2010-10-12 2010-10-12 2010-10-12 ENSG00000159398 ENSG00000159398 221223 3.1.1.1 Carboxylesterases 26459 protein-coding gene gene with protein product carboxylesterase 7 CES7 NA 20931200 Standard NM_145024 NM_145024 NA Approved FLJ31547, CES4C1, CES5, CAUXIN uc021tir.1 Q6NT32 OTTHUMG00000133236 ENST00000521992.1:c.1698T>G chr16.hg19:g.55880480A>C ENSP00000428864:p.Asp566Glu NA B7Z252|B7ZLB6|Q8NBC8|Q96DN9 hg19 CCDS54012.1 0.02 7.215389 AAAxTCC COVERED 695 0.3182234432234432 241 0.4898373983739837 84 0.23204419889502761 162 0.28321678321678323 208 0.27440633245382584 . 0.020 -1.432466 0.01108 0.475205 0.242558 ENSG00000159398 ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580 T;T;T;T;T 0.66460 -0.21;-0.21;-0.21;-0.21;-0.21 5.61 2.58 0.30949 Carboxylesterase, type B (1); 1.217400 0.05929 N 0.634854 T 0.00012 0.0000 N 0.01809 -0.71 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.40979 -0.9534 9 0.19147 T 0.46 . 6.1655 0.20388 0.1316:0.6521:0.0:0.2163 rs11860456;rs12924366;rs16955806;rs52805099;rs58244961;rs11860456 537;487 Q6NT32;Q6NT32-2 EST5A_HUMAN;. E 566;487;431;537;507;317 ENSP00000428864:D566E;ENSP00000324271:D487E;ENSP00000428571:D431E;ENSP00000290567:D537E;ENSP00000428887:D507E ENSP00000290567:D537E D - 3 2 CES5A 54437981 0.000000 0.05858 0.183000 0.23137 0.011000 0.07611 -1.208000 0.03005 0.123000 0.18342 -0.121000 0.15023 GAT NOVEL CES5A-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000381289.1 1 3.345156 KEEP 0 1 34 23 730 AA 0.999909 0.999909 0 - 9 60 341 0 0 23.23083 156 60 5550 232 ENST00000521992.1 0.054545 1 CES5A 221223 __UNKNOWN__ __UNKNOWN__ 16 55880534 55880534 __UNKNOWN__ Silent SNP G G C rs11860488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55880534G>C ENST00000521992.1 - 14 1789 c.1644C>G c.(1642-1644)ctC>ctG p.L548L CES5A_ENST00000520435.1_Silent_p.L489L|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Silent_p.L469L|CES5A_ENST00000290567.9_Silent_p.L519L|CES5A_ENST00000518005.1_Silent_p.L413L NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 519 NA extracellular region (GO:0005576) carboxylic ester hydrolase activity (GO:0052689) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGTCCAGCTGGAGGTACTGCT 0.532 NA C||| 1533 0.30611 0.4327 0.1873 5008 , , NA 16694 0.2817 NA 0.2783 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 C ,, 1885,2511 397,1091,710 205 202 203 1557,1644,1407 3.5 0.8 16 dbSNP_120 203 2083,6517 262,1559,2479 yes coding-synonymous,coding-synonymous,coding-synonymous CES5A NM_001143685.1,NM_001190158.1,NM_145024.2 ,, 659,2650,3189 CC,CG,GG 24.2209,42.8799,30.5325 ,, 519/576,548/605,469/526 55880534 3968,9028 2198 4300 6498 SO:0001819 synonymous_variant AK090997 CCDS10755.1, CCDS45490.1, CCDS54012.1 16q13 2010-10-12 2010-10-12 2010-10-12 ENSG00000159398 ENSG00000159398 221223 3.1.1.1 Carboxylesterases 26459 protein-coding gene gene with protein product carboxylesterase 7 CES7 NA 20931200 Standard NM_145024 NM_145024 NA Approved FLJ31547, CES4C1, CES5, CAUXIN uc021tir.1 Q6NT32 OTTHUMG00000133236 ENST00000521992.1:c.1644C>G chr16.hg19:g.55880534G>C NA B7Z252|B7ZLB6|Q8NBC8|Q96DN9 hg19 CCDS54012.1 0.02 8.888019 CTGxAGG COVERED NOVEL CES5A-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000381289.1 0 4.148639 KEEP 0 1 32 25 883 GG 0.999957 0.999957 0 - 7 60 259 0 0 16.053413 194 60 7193 263 ENST00000521992.1 0.034826 1 CES5A 221223 __UNKNOWN__ __UNKNOWN__ 16 55908971 55908971 __UNKNOWN__ Intron SNP G G A rs75723774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:55908971G>A ENST00000521992.1 - 3 306 CES5A_ENST00000520435.1_Intron|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000319165.9_Intron|CES5A_ENST00000290567.9_Intron|CES5A_ENST00000518005.1_Intron NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A NA NA extracellular region (GO:0005576) carboxylic ester hydrolase activity (GO:0052689) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 GGCCCTCAGAGACCTCTGAAG 0.502 NA G||| 203 0.0405351 0.003 0.0576 5008 , , NA 19902 0.0833 NA 0.001 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK090997 CCDS10755.1, CCDS45490.1, CCDS54012.1 16q13 2010-10-12 2010-10-12 2010-10-12 ENSG00000159398 ENSG00000159398 221223 3.1.1.1 Carboxylesterases 26459 protein-coding gene gene with protein product carboxylesterase 7 CES7 NA 20931200 Standard NM_145024 NM_145024 NA Approved FLJ31547, CES4C1, CES5, CAUXIN uc021tir.1 Q6NT32 OTTHUMG00000133236 ENST00000521992.1:c.161-1022C>T chr16.hg19:g.55908971G>A NA B7Z252|B7ZLB6|Q8NBC8|Q96DN9 hg19 CCDS54012.1 0.02 3.921474 AGAxACC COVERED NOVEL CES5A-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000381289.1 1 4.513675 KEEP 0 0 0 15 527 GG 0.99649 0.99649 0 - 8 60 284 0 0 18.829052 135 60 5096 186 ENST00000521992.1 0.055944 1 NUDT21 11051 __UNKNOWN__ __UNKNOWN__ 16 56464517 56464517 __UNKNOWN__ 3'UTR SNP C C A rs9937484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:56464517C>A ENST00000300291.5 - 0 2963 NM_007006.2 NP_008937.1 O43809 CPSF5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 21 NA NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382) AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 7 TGCCCTTATACCCTCTTCTAA 0.368 NA C||| 1263 0.252196 0.3797 0.183 5008 , , NA 18337 0.2103 NA 0.167 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ001810 CCDS10760.1 16q12.2 2013-06-18 2005-07-11 2005-07-11 ENSG00000167005 ENSG00000167005 11051 Nudix motif containing 13870 protein-coding gene gene with protein product cleavage factor Im complex 25 kDa subunit 604978 cleavage and polyadenylation specific factor 5, 25 kDa, cleavage and polyadenylation specific factor 5, 25 kD subunit CPSF5 NA 9659921 Standard NM_007006 NM_007006 NA Approved CFIM25 uc002eja.3 O43809 OTTHUMG00000133240 ENST00000300291.5:c.*2107G>T chr16.hg19:g.56464517C>A NA Q6IB85|Q6NE84 hg19 CCDS10760.1 0.02 8.046891 ATAxCCT COVERED NOVEL NUDT21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256980.3 1 15.048875 KEEP 0 0 0 50 1752 CC 1 1 0 - 11 60 392 0 0 25.064111 229 60 8480 354 ENST00000300291.5 0.045833 1 BBS2 583 __UNKNOWN__ __UNKNOWN__ 16 56545175 56545175 __UNKNOWN__ Missense_Mutation SNP T T C rs11373 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:56545175T>C ENST00000245157.5 - 3 787 c.367A>G c.(367-369)Att>Gtt p.I123V BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.I123V NM_031885.3 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 123 NA I -> V (polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred; dbSNP:rs11373). {ECO:0000269|PubMed:11285252, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15770229}. adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601) BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) RNA polymerase II repressing transcription factor binding (GO:0001103) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 CCCAGCACAATTGCATTTGCC 0.413 NA Bardet-Biedl syndrome T||| 1320 0.263578 0.2458 0.2767 5008 , , NA 18413 0.4127 NA 0.1789 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 T VAL/ILE 994,3402 372.5+/-320.4 102,790,1306 116 98 104 367 0.5 1 16 dbSNP_52 104 1546,7054 290.9+/-300.1 138,1270,2892 yes missense BBS2 NM_031885.3 29 240,2060,4198 CC,CT,TT 17.9767,22.6115,19.5445 benign 123/722 56545175 2540,10456 2198 4300 6498 SO:0001583 missense Familial Cancer Database BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome AF342736 CCDS32451.1 16q21 2013-01-08 ENSG00000125124 583 967 protein-coding gene gene with protein product 606151 BBS NA 11285252 Standard NM_031885 NM_031885 NA Approved uc002ejd.2 Q9BXC9 ENST00000245157.5:c.367A>G chr16.hg19:g.56545175T>C ENSP00000245157:p.Ile123Val NA Q96CM0|Q96SN9 hg19 CCDS32451.1 0.02 13.50063 CAAxTGC COVERED 578 0.26465201465201466 110 0.22357723577235772 93 0.2569060773480663 236 0.4125874125874126 139 0.18337730870712401 T 5.499 0.277020 0.10403 0.226115 0.179767 ENSG00000125124 ENST00000245157 D 0.82167 -1.58 5.9 0.542 0.17174 WD40 repeat-like-containing domain (1); 0.376395 0.31976 N 0.006774 T 0.00012 0.0000 N 0.16307 0.4 0.34697 P 0.273659 B;B 0.02656 0.0;0.0 B;B 0.08055 0.003;0.003 T 0.25117 -1.0141 9 0.14656 T 0.56 -3.2293 5.865 0.18771 0.0:0.3239:0.1315:0.5446 rs11373;rs1129878;rs3177663;rs3188184;rs11555777;rs17295965;rs17354402;rs17845410;rs17858274;rs52799276;rs57383601;rs11373 123;123 A8K0N9;Q9BXC9 .;BBS2_HUMAN V 123 ENSP00000245157:I123V ENSP00000245157:I123V I - 1 0 BBS2 55102676 0.997000 0.39634 0.994000 0.49952 0.608000 0.37181 0.402000 0.20965 -0.180000 0.10637 -0.276000 0.10085 ATT NOVEL BBS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434386.2 3 35.205032 KEEP 0 0 0 117 3740 TT 1 1 0 - 16 60 596 0 0 39.122177 329 60 11945 576 ENST00000245157.5 0.046377 1 MT1B 4490 __UNKNOWN__ __UNKNOWN__ 16 56686380 56686380 __UNKNOWN__ Intron SNP T T C rs2013775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:56686380T>C ENST00000334346.2 + 2 83 RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Intron NM_005947.2 NP_005938.1 P07438 MT1B_HUMAN metallothionein 1B NA NA cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 GGAGCTCTGATGGCTGGCCCT 0.562 NA t||| 1942 0.38778 0.2587 0.402 5008 , , NA 21234 0.3185 NA 0.502 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY168638 CCDS10765.1 16q13 2008-02-05 2007-03-02 ENSG00000169688 ENSG00000169688 4490 Metallothioneins 7394 protein-coding gene gene with protein product 156349 metallothionein 1Q MT1, MT1Q NA 6089206, 3785191 Standard NM_005947 NM_005947 NA Approved uc002ejs.3 P07438 OTTHUMG00000133277 ENST00000334346.2:c.29-103T>C chr16.hg19:g.56686380T>C NA Q86YX0 hg19 CCDS10765.1 0.02 20.602825 TGAxGGC COVERED NOVEL MT1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257057.2 2 18.955952 KEEP 0 0 0 63 1954 TT 1 1 0 + 18 60 674 0 0 42.359916 481 60 17613 681 ENST00000334346.2 0.036072 1 MT1B 4490 __UNKNOWN__ __UNKNOWN__ 16 56686471 56686471 __UNKNOWN__ Intron SNP G G T rs964374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:56686471G>T ENST00000334346.2 + 2 83 RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Intron NM_005947.2 NP_005938.1 P07438 MT1B_HUMAN metallothionein 1B NA NA cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 TGCCTTTTTCGCTTCCTTGCA 0.567 NA g||| 1979 0.395168 0.2859 0.402 5008 , , NA 21371 0.3185 NA 0.503 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 T 1565,2831 666.3+/-401.7 281,1003,914 123 104 110 -1.6 0 16 dbSNP_86 110 4497,4103 562.0+/-387.9 1198,2101,1001 no intron MT1B NM_005947.2 1479,3104,1915 TT,TG,GG 47.7093,35.6005,46.6451 56686471 6062,6934 2198 4300 6498 SO:0001627 intron_variant AY168638 CCDS10765.1 16q13 2008-02-05 2007-03-02 ENSG00000169688 ENSG00000169688 4490 Metallothioneins 7394 protein-coding gene gene with protein product 156349 metallothionein 1Q MT1, MT1Q NA 6089206, 3785191 Standard NM_005947 NM_005947 NA Approved uc002ejs.3 P07438 OTTHUMG00000133277 ENST00000334346.2:c.29-12G>T chr16.hg19:g.56686471G>T NA Q86YX0 hg19 CCDS10765.1 0.02 24.55665 TTCxCTT COVERED NOVEL MT1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257057.2 1 16.990961 KEEP 0 1 30 67 2463 GG 1 1 0 + 19 60 706 1 0 43.491553 552 60 21120 790 ENST00000334346.2 0.033275 1 NLRC5 84166 __UNKNOWN__ __UNKNOWN__ 16 57057654 57057654 __UNKNOWN__ Intron SNP A A G rs1672865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57057654A>G ENST00000262510.6 + 5 580 NLRC5_ENST00000539144.1_Intron|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000436936.1_Intron NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTCAGCCCAGATCCCCAGACC 0.602 NA A||| 3441 0.687101 0.6407 0.67 5008 , , NA 17374 0.8948 NA 0.5755 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 A 2653,1737 825,1003,367 31 28 29 1.4 0 16 dbSNP_89 29 5088,3504 1527,2034,735 no intron NLRC5 NM_032206.3 2352,3037,1102 GG,GA,AA 40.7821,39.5672,40.3713 57057654 7741,5241 2195 4296 6491 SO:0001627 intron_variant AF389420 CCDS10773.1 16q13 2008-02-05 ENSG00000140853 ENSG00000140853 84166 Nucleotide-binding domain and leucine rich repeat containing 29933 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5 613537 NA 12615073 Standard NM_032206 NM_032206 NA Approved NOD27, CLR16.1, FLJ21709 uc021tiu.1 Q86WI3 OTTHUMG00000133470 ENST00000262510.6:c.356-43A>G chr16.hg19:g.57057654A>G NA B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7 hg19 CCDS10773.1 0.02 3.703673 CAGxTCC COVERED NOVEL NLRC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257346.1 0 4.383494 KEEP 0 2 70 39 1254 AA 1 1 0 + 6 60 201 0 0 12.337957 128 60 4512 228 ENST00000262510.6 0.044776 1 NLRC5 84166 __UNKNOWN__ __UNKNOWN__ 16 57088886 57088886 __UNKNOWN__ Intron SNP G G T rs45533741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57088886G>T ENST00000262510.6 + 26 3821 RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Intron|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000436936.1_Intron NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCTGGCCCCGTGGGGGCATC 0.607 NA G||| 359 0.0716853 0.1369 0.0605 5008 , , NA 16724 0.0288 NA 0.0785 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 G 186,1198 10,166,516 37 38 38 -1.1 0 16 dbSNP_127 38 177,3005 8,161,1422 no intron NLRC5 NM_032206.3 18,327,1938 TT,TG,GG 5.5625,13.4393,7.9501 57088886 363,4203 692 1591 2283 SO:0001627 intron_variant AF389420 CCDS10773.1 16q13 2008-02-05 ENSG00000140853 ENSG00000140853 84166 Nucleotide-binding domain and leucine rich repeat containing 29933 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5 613537 NA 12615073 Standard NM_032206 NM_032206 NA Approved NOD27, CLR16.1, FLJ21709 uc021tiu.1 Q86WI3 OTTHUMG00000133470 ENST00000262510.6:c.3597-58G>T chr16.hg19:g.57088886G>T NA B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7 hg19 CCDS10773.1 0.02 6.233177 CCCxTGG COVERED NOVEL NLRC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257346.1 2 5.714374 KEEP 0 0 0 19 622 GG 0.99986 0.99986 0 + 6 60 226 0 0 13.95758 180 60 6076 232 ENST00000262510.6 0.032258 1 NLRC5 84166 __UNKNOWN__ __UNKNOWN__ 16 57095729 57095729 __UNKNOWN__ Intron SNP C C T rs3751711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57095729C>T ENST00000262510.6 + 32 4379 NLRC5_ENST00000539144.1_Intron|NLRC5_ENST00000308149.7_Intron|NLRC5_ENST00000436936.1_Intron NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TACCCACAACCCTGCCATCTG 0.602 NA C||| 642 0.128195 0.0023 0.1873 5008 , , NA 16736 0.3383 NA 0.0129 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF389420 CCDS10773.1 16q13 2008-02-05 ENSG00000140853 ENSG00000140853 84166 Nucleotide-binding domain and leucine rich repeat containing 29933 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5 613537 NA 12615073 Standard NM_032206 NM_032206 NA Approved NOD27, CLR16.1, FLJ21709 uc021tiu.1 Q86WI3 OTTHUMG00000133470 ENST00000262510.6:c.4154+116C>T chr16.hg19:g.57095729C>T NA B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7 hg19 CCDS10773.1 0.02 3.804582 AACxCTG COVERED NOVEL NLRC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257346.1 1 11.135313 KEEP 0 0 0 37 1255 CC 1 1 0 + 6 60 222 0 0 14.217055 139 60 5019 205 ENST00000262510.6 0.041379 1 NLRC5 84166 __UNKNOWN__ __UNKNOWN__ 16 57116819 57116819 __UNKNOWN__ 3'UTR SNP A A G rs43216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57116819A>G ENST00000262510.6 + 0 6205 NLRC5_ENST00000539144.1_3'UTR|NLRC5_ENST00000308149.7_3'UTR|NLRC5_ENST00000436936.1_3'UTR NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 NA NA defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979) NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CATCCCAAGTAGCAGGATACA 0.498 NA G||| 3118 0.622604 0.4516 0.6801 5008 , , NA 20324 0.8175 NA 0.6392 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF389420 CCDS10773.1 16q13 2008-02-05 ENSG00000140853 ENSG00000140853 84166 Nucleotide-binding domain and leucine rich repeat containing 29933 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5, NOD-like receptor C5 613537 NA 12615073 Standard NM_032206 NM_032206 NA Approved NOD27, CLR16.1, FLJ21709 uc021tiu.1 Q86WI3 OTTHUMG00000133470 ENST00000262510.6:c.*379A>G chr16.hg19:g.57116819A>G NA B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7 hg19 CCDS10773.1 0.02 7.095457 AGTxGCA COVERED NOVEL NLRC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257346.1 0 9.929315 KEEP 0 0 0 33 1028 AA 0.999998 0.999998 0 + 10 60 390 0 0 26.760807 180 60 6572 258 ENST00000262510.6 0.052632 1 CPNE2 221184 __UNKNOWN__ __UNKNOWN__ 16 57171237 57171237 __UNKNOWN__ Intron SNP C C T rs2305692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57171237C>T ENST00000535318.2 + 15 1663 CPNE2_ENST00000290776.8_Intron|CPNE2_ENST00000537605.1_Intron|CPNE2_ENST00000565874.1_Intron|CPNE2_ENST00000565951.1_Intron Q96FN4 CPNE2_HUMAN copine II NA NA extracellular vesicular exosome (GO:0070062) central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) GAAACACGCACGTCCTCTGGG 0.567 NA C||| 14 0.00279553 0.0 0.0 5008 , , NA 21150 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4395 2.1+/-5.4 0,1,2197 29 22 24 -5.2 0 16 dbSNP_100 24 1,8599 1.2+/-3.3 0,1,4299 no intron CPNE2 NM_152727.5 0,2,6496 TT,TC,CC 0.0116,0.0227,0.0154 57171237 2,12994 2198 4300 6498 SO:0001627 intron_variant CCDS10774.1 16q13 2008-02-05 ENSG00000140848 ENSG00000140848 221184 2315 protein-coding gene gene with protein product 604206 NA 9430674 Standard NM_152727 NM_152727 NA Approved CPN2 uc002eks.2 Q96FN4 OTTHUMG00000133471 ENST00000535318.2:c.1302+43C>T chr16.hg19:g.57171237C>T NA Q68D19|Q719H8|Q86XP9 hg19 CCDS10774.1 0.02 13.571804 GCAxGTC COVERED NOVEL CPNE2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000432986.2 0 14.742701 KEEP 0 0 0 49 1528 CC 1 1 0 + 17 60 635 0 0 42.403531 319 60 10162 400 ENST00000535318.2 0.050595 1 PLLP 51090 __UNKNOWN__ __UNKNOWN__ 16 57290398 57290398 __UNKNOWN__ 3'UTR SNP C C T rs368863657 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57290398C>T ENST00000219207.5 - 0 1122 NM_015993.2 NP_057077.1 Q9Y342 PLLP_HUMAN plasmolipin NA NA ion transport (GO:0006811)|myelination (GO:0042552)|response to wounding (GO:0009611) compact myelin (GO:0043218)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121) endometrium(1)|prostate(1) 2 CTCAGCTCTCCTGGAACAAAG 0.502 NA C||| 14 0.00279553 0.0 0.0 5008 , , NA 20004 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF137386 CCDS10777.1 16q13 2010-06-24 2010-06-24 2005-03-21 ENSG00000102934 ENSG00000102934 51090 18553 protein-coding gene gene with protein product plasma membrane proteolipid 600340 transmembrane 4 superfamily member 11 (plasmolipin), plasma membrane proteolipid (plasmolipin) TM4SF11 NA 11707781 Standard NM_015993 NA Approved PMLP uc002elg.2 Q9Y342 OTTHUMG00000133465 ENST00000219207.5:c.*427G>A chr16.hg19:g.57290398C>T NA B2R9T6 hg19 CCDS10777.1 0.02 8.539727 CTCxTGG COVERED NOVEL PLLP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257341.2 3 7.825161 KEEP 0 0 0 26 922 CC 0.999957 0.999957 0 - 8 60 296 0 0 18.547164 209 60 7882 303 ENST00000219207.5 0.036866 1 GPR114 221188 __UNKNOWN__ __UNKNOWN__ 16 57601792 57601792 __UNKNOWN__ Silent SNP C C T rs9937918 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57601792C>T ENST00000340339.4 + 9 1369 c.846C>T c.(844-846)cgC>cgT p.R282R GPR114_ENST00000349457.3_Silent_p.R282R|GPR114_ENST00000394361.4_3'UTR NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 282 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 CCTTAACACGCATCCACATGA 0.597 NA c||| 2275 0.454273 0.3759 0.5029 5008 , , NA 23261 0.7123 NA 0.2783 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 1618,2778 499.8+/-364.5 299,1020,879 94 76 82 846 -4.1 0.1 16 dbSNP_119 82 2432,6168 398.2+/-346.0 342,1748,2210 no coding-synonymous GPR114 NM_153837.1 641,2768,3089 TT,TC,CC 28.2791,36.8062,31.1634 282/529 57601792 4050,8946 2198 4300 6498 SO:0001819 synonymous_variant AY140956 CCDS10785.1 16q13 2014-08-08 ENSG00000159618 ENSG00000159618 221188 -, GPCR / Class B : Orphans 19010 protein-coding gene gene with protein product NA 12435584 Standard NM_153837 NM_153837 NA Approved PGR27 uc002ely.3 Q8IZF4 OTTHUMG00000133461 ENST00000340339.4:c.846C>T chr16.hg19:g.57601792C>T NA B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14 hg19 CCDS10785.1 0.02 5.794792 ACGxATC COVERED NOVEL GPR114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257336.3 1 7.524709 KEEP 0 0 0 25 900 CC 0.999931 0.999931 0 + 9 60 318 0 0 20.604543 170 60 6377 242 ENST00000340339.4 0.050279 1 GPR114 221188 __UNKNOWN__ __UNKNOWN__ 16 57609000 57609000 __UNKNOWN__ Silent SNP C C G rs16957788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57609000C>G ENST00000340339.4 + 11 2005 c.1482C>G c.(1480-1482)ctC>ctG p.L494L GPR114_ENST00000349457.3_Silent_p.L494L|GPR114_ENST00000394361.4_3'UTR NM_153837.1 NP_722579.1 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 494 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.L494L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 TAAACTCGCTCTACGGTAGGG 0.602 NA C||| 596 0.11901 0.0287 0.0634 5008 , , NA 18891 0.369 NA 0.0308 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 214,4182 131.8+/-168.3 6,202,1990 74 64 68 1482 2.4 1 16 dbSNP_123 68 318,8282 111.8+/-172.0 4,310,3986 no coding-synonymous GPR114 NM_153837.1 10,512,5976 GG,GC,CC 3.6977,4.8681,4.0936 494/529 57609000 532,12464 2198 4300 6498 SO:0001819 synonymous_variant AY140956 CCDS10785.1 16q13 2014-08-08 ENSG00000159618 ENSG00000159618 221188 -, GPCR / Class B : Orphans 19010 protein-coding gene gene with protein product NA 12435584 Standard NM_153837 NM_153837 NA Approved PGR27 uc002ely.3 Q8IZF4 OTTHUMG00000133461 ENST00000340339.4:c.1482C>G chr16.hg19:g.57609000C>G NA B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14 hg19 CCDS10785.1 0.02 4.67648 GCTxTAC COVERED NOVEL GPR114-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257336.3 1 6.320657 KEEP 0 0 0 21 749 CC 0.999869 0.999869 0 + 5 60 193 0 0 12.213628 142 60 5453 218 ENST00000340339.4 0.034014 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 57624549 57624549 __UNKNOWN__ IGR SNP G G A rs67587091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57624549G>A NA NA GPR114 (13442 upstream) : GPR56 (29100 downstream) NA NA NA CTGTTTCTAAGAAGAGTGATG 0.458 NA -||| 1062 0.212061 0.3638 0.1009 5008 , , NA 17459 0.369 NA 0.0348 False NA ,,, NA NA NA 2504 0.1063 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.57624549G>A NA hg19 0.02 8.308229 TAAxAAG COVERED NOVEL 0 2 8.728335 KEEP 0 0 0 29 1035 GG 0.999997 0.999997 0 7 60 255 1 0 15.198418 226 60 8507 302 0.030043 1 GPR56 9289 __UNKNOWN__ __UNKNOWN__ 16 57694855 57694855 __UNKNOWN__ Intron SNP G G A rs2278809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57694855G>A ENST00000388812.4 + 12 2122 GPR56_ENST00000568909.1_Intron|GPR56_ENST00000456916.1_Intron|GPR56_ENST00000544297.1_Intron|GPR56_ENST00000562631.1_Intron|GPR56_ENST00000540164.2_Intron|GPR56_ENST00000379696.3_Intron|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000568908.1_Intron|GPR56_ENST00000538815.1_Intron|GPR56_ENST00000388813.5_Intron|GPR56_ENST00000567835.1_Intron|GPR56_ENST00000562558.1_Intron Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 NA NA angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573) extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930) kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 AGTGCAGCCCGGGCCCAGGTC 0.607 NA G||| 256 0.0511182 0.0 0.0591 5008 , , NA 19369 0.1776 NA 0.002 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ011001 CCDS32460.1, CCDS32461.1, CCDS73893.1 16q13 2014-08-08 ENSG00000205336 9289 -, GPCR / Class B : Orphans 4512 protein-coding gene gene with protein product 604110 NA 10049584, 10100861 Standard XM_005256237 NA Approved TM7LN4, TM7XN1 uc002emb.2 Q9Y653 ENST00000388812.4:c.1682+67G>A chr16.hg19:g.57694855G>A NA A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4 hg19 CCDS32460.1 0.02 4.423438 CCCxGGC COVERED NOVEL GPR56-203 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000433436.3 0 3.611377 KEEP 0 0 0 12 408 GG 0.993634 0.993632 0 + 6 60 221 0 0 14.622977 114 60 4029 144 ENST00000388812.4 0.05 0.999999 GPR97 222487 __UNKNOWN__ __UNKNOWN__ 16 57713030 57713030 __UNKNOWN__ Intron SNP G G C rs80122575 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57713030G>C ENST00000333493.4 + 5 653 GPR97_ENST00000450388.3_Intron|GPR97_ENST00000327655.6_Intron NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GAACCCCAGCGTTGGTGGGTT 0.662 NA C||| 145 0.0289537 0.0 0.0 5008 , , NA 18669 0.0873 NA 0.001 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY140959 CCDS10786.1 16q13 2014-08-08 ENSG00000182885 ENSG00000182885 222487 -, GPCR / Class B : Orphans 13728 protein-coding gene gene with protein product NA 12435584, 222487 Standard NM_170776 NM_170776 NA Approved Pb99, PGR26 uc002emh.3 Q86Y34 OTTHUMG00000133458 ENST00000333493.4:c.493-59G>C chr16.hg19:g.57713030G>C NA Q6ZMF4|Q86SL9|Q8IZF1 hg19 CCDS10786.1 0.02 2.029865 AGCxTTG COVERED NOVEL GPR97-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257333.2 1 4.213242 KEEP 0 0 0 14 461 GG 0.995343 0.993815 0 + 4 60 147 0 0 9.828777 71 60 2353 93 ENST00000333493.4 0.053333 0.998465 GPR97 222487 __UNKNOWN__ __UNKNOWN__ 16 57713037 57713037 __UNKNOWN__ Intron SNP G G A rs76207354 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57713037G>A ENST00000333493.4 + 5 653 GPR97_ENST00000450388.3_Intron|GPR97_ENST00000327655.6_Intron NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGCGTTGGTGGGTTGGGATGG 0.657 NA G||| 145 0.0289537 0.0 0.0 5008 , , NA 18756 0.0873 NA 0.001 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 39 38 39 NA NA 16 NA 57713037 876 1991 2867 SO:0001627 intron_variant AY140959 CCDS10786.1 16q13 2014-08-08 ENSG00000182885 ENSG00000182885 222487 -, GPCR / Class B : Orphans 13728 protein-coding gene gene with protein product NA 12435584, 222487 Standard NM_170776 NM_170776 NA Approved Pb99, PGR26 uc002emh.3 Q86Y34 OTTHUMG00000133458 ENST00000333493.4:c.493-52G>A chr16.hg19:g.57713037G>A NA Q6ZMF4|Q86SL9|Q8IZF1 hg19 CCDS10786.1 0.02 1.742583 GTGxGTT COVERED NOVEL GPR97-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257333.2 1 4.514753 KEEP 0 0 0 15 534 GG 0.99649 0.996114 0 + 5 60 168 0 0 10.933424 80 60 2850 103 ENST00000333493.4 0.058824 0.999622 GPR97 222487 __UNKNOWN__ __UNKNOWN__ 16 57713647 57713647 __UNKNOWN__ Intron SNP G G T rs59464512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57713647G>T ENST00000333493.4 + 6 788 GPR97_ENST00000450388.3_Intron|GPR97_ENST00000327655.6_Intron NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 NA NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGACTCGGGGGAGCACACCGT 0.547 NA G||| 149 0.0297524 0.0008 0.0 5008 , , NA 14635 0.0903 NA 0.001 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 G 0,1384 0,0,692 75 71 72 -2.5 0 16 dbSNP_129 72 1,3181 0,1,1590 no intron GPR97 NM_170776.4 0,1,2282 TT,TG,GG 0.0314,0.0,0.0219 57713647 1,4565 692 1591 2283 SO:0001627 intron_variant AY140959 CCDS10786.1 16q13 2014-08-08 ENSG00000182885 ENSG00000182885 222487 -, GPCR / Class B : Orphans 13728 protein-coding gene gene with protein product NA 12435584, 222487 Standard NM_170776 NM_170776 NA Approved Pb99, PGR26 uc002emh.3 Q86Y34 OTTHUMG00000133458 ENST00000333493.4:c.628-81G>T chr16.hg19:g.57713647G>T NA Q6ZMF4|Q86SL9|Q8IZF1 hg19 CCDS10786.1 0.02 23.100784 GGGxAGC COVERED NOVEL GPR97-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257333.2 6 21.369285 KEEP 0 0 0 71 2533 GG 1 1 0 + 21 60 669 0 0 37.231919 602 60 22240 899 ENST00000333493.4 0.033708 1 GPR97 222487 __UNKNOWN__ __UNKNOWN__ 16 57723752 57723752 __UNKNOWN__ Missense_Mutation SNP A A G rs9939524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57723752A>G ENST00000327655.6 + 12 1683 c.950A>G c.(949-951)aAg>aGg p.K317R RP11-405F3.4_ENST00000563062.1_RNA Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 126 NA neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCAGGTGAGAAGTTACTGTCA 0.607 NA a||| 1466 0.292732 0.4523 0.2968 5008 , , NA 18071 0.2877 NA 0.1292 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AY140959 CCDS10786.1 16q13 2014-08-08 ENSG00000182885 ENSG00000182885 222487 -, GPCR / Class B : Orphans 13728 protein-coding gene gene with protein product NA 12435584, 222487 Standard NM_170776 NM_170776 NA Approved Pb99, PGR26 uc002emh.3 Q86Y34 OTTHUMG00000133458 ENST00000327655.6:c.950A>G chr16.hg19:g.57723752A>G ENSP00000331199:p.Lys317Arg NA Q6ZMF4|Q86SL9|Q8IZF1 hg19 0.02 9.244446 AGAxGTT COVERED 625 0.28617216117216115 230 0.46747967479674796 109 0.3011049723756906 190 0.3321678321678322 96 0.1266490765171504 A 14.26 2.482596 0.44147 . . ENSG00000182885 ENST00000327655 T 0.35236 1.32 3.31 -0.266 0.12942 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.45556 -0.9253 5 0.54805 T 0.06 . 3.2247 0.06728 0.562:0.218:0.2201:0.0 rs9939524;rs52834350;rs60818865;rs9939524 . . . R 317 ENSP00000331199:K317R ENSP00000331199:K317R K + 2 0 GPR97 56281253 0.015000 0.18098 0.001000 0.08648 0.217000 0.24651 0.465000 0.22004 -0.074000 0.12820 0.402000 0.26972 AAG NOVEL GPR97-201 KNOWN basic protein_coding NA protein_coding 1 5.151832 KEEP 0 1 37 30 969 AA 0.999997 0.999997 0 + 11 60 418 0 0 27.920128 217 60 7699 319 ENST00000327655.6 0.048246 1 CCDC135 0 __UNKNOWN__ __UNKNOWN__ 16 57738740 57738740 __UNKNOWN__ Intron SNP A A G rs7194271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57738740A>G ENST00000360716.3 + 7 920 CCDC135_ENST00000394337.4_Intron|CCDC135_ENST00000336825.8_Intron Q8IY82 CC135_HUMAN NA NA cell differentiation (GO:0030154)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|motile cilium (GO:0031514) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 TGCACATGTAAAGGGGGGATG 0.557 NA a||| 1183 0.236222 0.2995 0.2594 5008 , , NA 17529 0.2817 NA 0.1571 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 38 35 36 NA NA 16 NA 57738740 2198 4300 6498 SO:0001627 intron_variant NA NA NA NA ENST00000360716.3:c.700-48A>G chr16.hg19:g.57738740A>G NA A8K943|Q8NAA0|Q9H080 hg19 CCDS10787.1 0.02 2.038561 GTAxAGG COVERED NOVEL CCDC135-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433323.2 0 2.707959 KEEP 0 0 0 9 276 AA 0.99254 0.990754 0 + 4 60 155 0 0 10.651754 70 60 2515 101 ENST00000360716.3 0.054054 0.9982 KATNB1 10300 __UNKNOWN__ __UNKNOWN__ 16 57787027 57787027 __UNKNOWN__ Silent SNP C C T rs12922275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57787027C>T ENST00000379661.3 + 11 1286 c.894C>T c.(892-894)taC>taT p.Y298Y NM_005886.2 NP_005877.2 katanin p80 (WD repeat containing) subunit B 1 NA NA cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) TCTCCTCCTACGTGGTGGATC 0.672 NA C||| 504 0.100639 0.1324 0.072 5008 , , NA 14456 0.0883 NA 0.0497 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 C 516,3850 30,456,1697 58 53 55 894 -4.1 1 16 dbSNP_121 55 444,8056 10,424,3816 no coding-synonymous KATNB1 NM_005886.2 40,880,5513 TT,TC,CC 5.2235,11.8186,7.4615 298/656 57787027 960,11906 2183 4250 6433 SO:0001819 synonymous_variant AF052432 CCDS10788.1 16q12.2 2013-01-09 2003-03-13 ENSG00000140854 ENSG00000140854 10300 WD repeat domain containing 6217 protein-coding gene gene with protein product 602703 katanin p80 (WD40-containing) subunit B 1 NA 9568719 Standard XM_006721121 NA Approved uc002eml.1 Q9BVA0 OTTHUMG00000133467 ENST00000379661.3:c.894C>T chr16.hg19:g.57787027C>T NA hg19 CCDS10788.1 0.02 19.7205 CTAxGTG COVERED NOVEL KATNB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257343.3 3 22.224511 KEEP 0 2 63 96 3257 CC 1 1 0 + 13 60 487 0 0 28.895336 474 60 16803 743 ENST00000379661.3 0.026694 1 KATNB1 10300 __UNKNOWN__ __UNKNOWN__ 16 57790161 57790161 __UNKNOWN__ Intron SNP G G T rs552744685|rs34131744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57790161G>T ENST00000379661.3 + 19 2110 NM_005886.2 NP_005877.2 katanin p80 (WD repeat containing) subunit B 1 NA NA cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) tgtatgtgtgggtgtgtctgt 0.557 NA 497 0.0992412 0.1452 0.0591 5008 , , NA 19720 0.0635 NA 0.0755 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052432 CCDS10788.1 16q12.2 2013-01-09 2003-03-13 ENSG00000140854 ENSG00000140854 10300 WD repeat domain containing 6217 protein-coding gene gene with protein product 602703 katanin p80 (WD40-containing) subunit B 1 NA 9568719 Standard XM_006721121 NA Approved uc002eml.1 Q9BVA0 OTTHUMG00000133467 ENST00000379661.3:c.1719-107G>T chr16.hg19:g.57790161G>T NA hg19 CCDS10788.1 0.02 10.053194 GTGxGTG COVERED NOVEL KATNB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257343.3 3 5.987506 KEEP 0 2 57 40 1406 GG 1 1 0 + 11 60 370 1 0 21.91203 284 60 10219 385 ENST00000379661.3 0.037288 1 KIFC3 3801 __UNKNOWN__ __UNKNOWN__ 16 57792688 57792688 __UNKNOWN__ 3'UTR SNP G G A rs71387192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57792688G>A ENST00000543930.1 - 0 2773 KIFC3_ENST00000379655.4_3'UTR|KIFC3_ENST00000445690.2_3'UTR|KIFC3_ENST00000540079.2_3'UTR|KIFC3_ENST00000421376.2_3'UTR|KIFC3_ENST00000562903.1_3'UTR|KIFC3_ENST00000465878.2_3'UTR|KIFC3_ENST00000541240.1_3'UTR Q9BVG8 KIFC3_HUMAN kinesin family member C3 NA NA ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218) centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) GAGGGGAGACGGGGCAGAAGA 0.632 NA G||| 389 0.0776757 0.0734 0.0519 5008 , , NA 17162 0.0635 NA 0.0775 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001211 CCDS10789.2, CCDS45493.1, CCDS45494.1 16q13-q21 2008-02-05 ENSG00000140859 ENSG00000140859 3801 Kinesins 6326 protein-coding gene gene with protein product 604535 NA 9782090 Standard NM_005550 NM_001130099 NA Approved uc002emp.3 Q9BVG8 OTTHUMG00000133455 ENST00000543930.1:c.*158C>T chr16.hg19:g.57792688G>A NA A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6 hg19 0.02 18.107497 GACxGGG COVERED NOVEL KIFC3-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000432168.1 7 19.098422 KEEP 0 4 124 107 3637 GG 1 1 0 - 13 60 496 0 0 30.318793 431 60 15251 705 ENST00000543930.1 0.029279 1 KIFC3 3801 __UNKNOWN__ __UNKNOWN__ 16 57793146 57793146 __UNKNOWN__ Intron SNP T T C rs71387193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:57793146T>C ENST00000543930.1 - 17 2611 KIFC3_ENST00000379655.4_Intron|KIFC3_ENST00000445690.2_Intron|KIFC3_ENST00000540079.2_Intron|KIFC3_ENST00000421376.2_Intron|KIFC3_ENST00000562903.1_Intron|KIFC3_ENST00000465878.2_Intron|KIFC3_ENST00000539578.1_Intron|KIFC3_ENST00000541240.1_Intron Q9BVG8 KIFC3_HUMAN kinesin family member C3 NA NA ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218) centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) TGCTACCCCTTTGGACTCAAG 0.637 NA T||| 407 0.08127 0.0741 0.0519 5008 , , NA 18679 0.0675 NA 0.0785 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 T ,, 111,1273 5,101,586 19 25 24 ,, -1.5 0 16 dbSNP_130 24 254,2928 11,232,1348 no intron,intron,intron KIFC3 NM_001130099.1,NM_001130100.1,NM_005550.3 ,, 16,333,1934 CC,CT,TT 7.9824,8.0202,7.9939 ,, ,, 57793146 365,4201 692 1591 2283 SO:0001627 intron_variant BC001211 CCDS10789.2, CCDS45493.1, CCDS45494.1 16q13-q21 2008-02-05 ENSG00000140859 ENSG00000140859 3801 Kinesins 6326 protein-coding gene gene with protein product 604535 NA 9782090 Standard NM_005550 NM_001130099 NA Approved uc002emp.3 Q9BVG8 OTTHUMG00000133455 ENST00000543930.1:c.2051-81A>G chr16.hg19:g.57793146T>C NA A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6 hg19 0.02 14.582133 CCTxTGG COVERED NOVEL KIFC3-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000432168.1 2 20.764241 KEEP 0 0 0 69 2224 TT 1 1 0 - 10 60 396 0 0 24.697363 337 60 12063 529 ENST00000543930.1 0.028818 1 CSNK2A2 1459 __UNKNOWN__ __UNKNOWN__ 16 58199670 58199670 __UNKNOWN__ Intron SNP C C T rs2242444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58199670C>T ENST00000262506.3 - 10 1011 CSNK2A2_ENST00000566813.1_Intron NM_001896.2 NP_001887.1 P19784 CSK22_HUMAN casein kinase 2, alpha prime polypeptide NA NA apoptotic process (GO:0006915)|axon guidance (GO:0007411)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674) central_nervous_system(1) 1 GAATCCTTATCTACTAGGGCT 0.393 NA C||| 1129 0.225439 0.3608 0.3847 5008 , , NA 20592 0.1319 NA 0.1551 False NA ,,, NA NA NA 2504 0.0982 NA NA NA Melanoma(54;119 1219 18349 35700 39738) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M55268 CCDS10794.1 16q21 2013-01-17 ENSG00000070770 ENSG00000070770 1459 2459 protein-coding gene gene with protein product 115442 NA 2174700, 1766873 Standard NM_001896 NM_001896 NA Approved CSNK2A1 uc002enc.3 P19784 OTTHUMG00000133488 ENST00000262506.3:c.828-58G>A chr16.hg19:g.58199670C>T NA hg19 CCDS10794.1 0.02 3.669848 TATxTAC COVERED NOVEL CSNK2A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257386.2 2 7.223857 KEEP 0 0 0 24 878 CC 0.999909 0.999909 0 - 6 60 214 0 0 13.346183 143 60 5386 187 ENST00000262506.3 0.040268 1 PRSS54 221191 __UNKNOWN__ __UNKNOWN__ 16 58314598 58314598 __UNKNOWN__ Missense_Mutation SNP C C T rs1052276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58314598C>T ENST00000219301.4 - 7 1112 c.718G>A c.(718-720)Gtc>Atc p.V240I PRSS54_ENST00000543437.1_Missense_Mutation_p.V141I|PRSS54_ENST00000567164.1_Missense_Mutation_p.V240I|CCDC113_ENST00000219299.4_3'UTR|CCDC113_ENST00000443128.2_3'UTR NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 240 Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA V -> I (in dbSNP:rs1052276). {ECO:0000269|PubMed:14702039}. cytoplasm (GO:0005737)|extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAGTTCAGGACTCCTCTCAGA 0.532 NA C||| 473 0.0944489 0.0673 0.1513 5008 , , NA 18873 0.1032 NA 0.1074 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 C ILE/VAL,, 332,4064 174.8+/-204.3 7,318,1873 65 62 63 718,, -10.9 0 16 dbSNP_86 63 916,7684 204.5+/-247.2 50,816,3434 yes missense,utr-3,utr-3 CCDC113,PRSS54 NM_001080492.1,NM_001142302.1,NM_014157.3 29,, 57,1134,5307 TT,TC,CC 10.6512,7.5523,9.603 benign,, 240/396,, 58314598 1248,11748 2198 4300 6498 SO:0001583 missense AK058068 CCDS32463.1 16q21 2010-05-07 ENSG00000103023 ENSG00000103023 221191 Serine peptidases / Serine peptidases 26336 protein-coding gene gene with protein product cancer/testis antigen 67 NA 17521433 Standard NM_001080492 NM_001080492 NA Approved FLJ25339, KLKBL4, CT67 uc002enf.3 Q6PEW0 ENST00000219301.4:c.718G>A chr16.hg19:g.58314598C>T ENSP00000219301:p.Val240Ile NA Q96LN9|Q9NT77 hg19 CCDS32463.1 0.02 26.385413 GGAxTCC COVERED 212 0.09706959706959707 38 0.07723577235772358 42 0.11602209944751381 52 0.09090909090909091 80 0.10554089709762533 C 5.061 0.196935 0.09599 0.075523 0.106512 ENSG00000103023 ENST00000219301;ENST00000543437 D;D 0.87334 -2.24;-2.24 5.77 -10.9 0.00192 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 1.353490 0.04775 N 0.428687 T 0.01523 0.0049 N 0.03209 -0.39 0.80722 P 0.0 B 0.25272 0.122 B 0.27380 0.079 T 0.34625 -0.9821 9 0.02654 T 1 -3.9884 5.8642 0.18765 0.0917:0.4863:0.2235:0.1986 rs1052276;rs3169291;rs17846560;rs17859635;rs52811089;rs57343894;rs1052276 240 Q6PEW0 PRS54_HUMAN I 240;141 ENSP00000219301:V240I;ENSP00000437705:V141I ENSP00000219301:V240I V - 1 0 PRSS54 56872099 0.000000 0.05858 0.002000 0.10522 0.110000 0.19582 -1.992000 0.01476 -1.858000 0.01158 -0.302000 0.09304 GTC NOVEL PRSS54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422556.1 6 18.660969 KEEP 0 0 0 62 2223 CC 1 1 0 - 19 60 657 0 0 37.628362 661 60 25148 918 ENST00000219301.4 0.027941 1 CCDC113 29070 __UNKNOWN__ __UNKNOWN__ 16 58315051 58315051 __UNKNOWN__ 3'UTR SNP G G T rs16960027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58315051G>T ENST00000219299.4 + 0 2583 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron|PRSS54_ENST00000219301.4_Intron|CCDC113_ENST00000443128.2_3'UTR NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 AACCCTTAGTGTAAGCCACTT 0.512 NA T||| 475 0.0948482 0.0673 0.1513 5008 , , NA 20806 0.1032 NA 0.1074 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136785 CCDS10795.1, CCDS45497.1 16q21 2008-02-05 ENSG00000103021 ENSG00000103021 29070 25002 protein-coding gene gene with protein product NA 11230166, 11042152 Standard NM_014157 NM_014157 NA Approved HSPC065, DKFZp434N1418 uc002ene.3 Q9H0I3 OTTHUMG00000133489 ENST00000219299.4:c.*1370G>T chr16.hg19:g.58315051G>T NA B2RAQ7|B4DR20|Q9NZX2 hg19 CCDS10795.1 0.02 7.713599 AGTxTAA COVERED NOVEL CCDC113-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257387.2 2 7.825193 KEEP 0 0 0 26 918 GG 0.999957 0.999957 0 + 7 60 248 0 0 14.358563 237 60 8873 325 ENST00000219299.4 0.028689 1 CCDC113 29070 __UNKNOWN__ __UNKNOWN__ 16 58316515 58316515 __UNKNOWN__ 3'UTR SNP G G A rs3743580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58316515G>A ENST00000219299.4 + 0 4047 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron|PRSS54_ENST00000219301.4_Intron|CCDC113_ENST00000443128.2_3'UTR NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GACATGTGAGGAAGGCCTTGA 0.572 NA G||| 473 0.0944489 0.0666 0.1513 5008 , , NA 20200 0.1032 NA 0.1074 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136785 CCDS10795.1, CCDS45497.1 16q21 2008-02-05 ENSG00000103021 ENSG00000103021 29070 25002 protein-coding gene gene with protein product NA 11230166, 11042152 Standard NM_014157 NM_014157 NA Approved HSPC065, DKFZp434N1418 uc002ene.3 Q9H0I3 OTTHUMG00000133489 ENST00000219299.4:c.*2834G>A chr16.hg19:g.58316515G>A NA B2RAQ7|B4DR20|Q9NZX2 hg19 CCDS10795.1 0.02 5.962524 GAGxAAG COVERED NOVEL CCDC113-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257387.2 1 6.922451 KEEP 0 0 0 23 810 GG 0.999892 0.999892 0 + 6 60 215 0 0 13.257854 154 60 5625 212 ENST00000219299.4 0.0375 1 CCDC113 29070 __UNKNOWN__ __UNKNOWN__ 16 58316958 58316958 __UNKNOWN__ 3'UTR SNP C C T rs11865985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58316958C>T ENST00000219299.4 + 0 4490 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron|PRSS54_ENST00000219301.4_Intron|CCDC113_ENST00000443128.2_3'UTR NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 CCCAAGGGAGCGGCCACAGCC 0.547 NA C||| 473 0.0944489 0.0666 0.1513 5008 , , NA 18903 0.1032 NA 0.1074 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136785 CCDS10795.1, CCDS45497.1 16q21 2008-02-05 ENSG00000103021 ENSG00000103021 29070 25002 protein-coding gene gene with protein product NA 11230166, 11042152 Standard NM_014157 NM_014157 NA Approved HSPC065, DKFZp434N1418 uc002ene.3 Q9H0I3 OTTHUMG00000133489 ENST00000219299.4:c.*3277C>T chr16.hg19:g.58316958C>T NA B2RAQ7|B4DR20|Q9NZX2 hg19 CCDS10795.1 0.02 8.400107 GAGxGGC COVERED NOVEL CCDC113-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257387.2 2 5.417146 KEEP 0 0 0 18 606 CC 0.999859 0.999859 0 + 9 60 328 0 0 20.536764 225 60 7764 286 ENST00000219299.4 0.038462 1 CCDC113 29070 __UNKNOWN__ __UNKNOWN__ 16 58317024 58317024 __UNKNOWN__ 3'UTR SNP G G A rs16960040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58317024G>A ENST00000219299.4 + 0 4556 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron|PRSS54_ENST00000219301.4_Intron|CCDC113_ENST00000443128.2_3'UTR NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 CAAAAGCCCTGACAGTGGTAG 0.502 NA A||| 473 0.0944489 0.0666 0.1513 5008 , , NA 19955 0.1032 NA 0.1074 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136785 CCDS10795.1, CCDS45497.1 16q21 2008-02-05 ENSG00000103021 ENSG00000103021 29070 25002 protein-coding gene gene with protein product NA 11230166, 11042152 Standard NM_014157 NM_014157 NA Approved HSPC065, DKFZp434N1418 uc002ene.3 Q9H0I3 OTTHUMG00000133489 ENST00000219299.4:c.*3343G>A chr16.hg19:g.58317024G>A NA B2RAQ7|B4DR20|Q9NZX2 hg19 CCDS10795.1 0.02 7.812653 CCTxACA COVERED NOVEL CCDC113-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257387.2 4 3.84584 KEEP 0 1 26 22 775 GG 0.999892 0.999892 0 + 7 60 249 0 0 14.458085 237 60 9058 309 ENST00000219299.4 0.028689 1 PRSS54 221191 __UNKNOWN__ __UNKNOWN__ 16 58324803 58324803 __UNKNOWN__ Intron SNP A A G rs3803583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58324803A>G ENST00000219301.4 - 4 658 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGCAGGAAACAGGGTCGCCCC 0.627 NA A||| 397 0.0792732 0.028 0.147 5008 , , NA 17080 0.1062 NA 0.1014 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058068 CCDS32463.1 16q21 2010-05-07 ENSG00000103023 ENSG00000103023 221191 Serine peptidases / Serine peptidases 26336 protein-coding gene gene with protein product cancer/testis antigen 67 NA 17521433 Standard NM_001080492 NM_001080492 NA Approved FLJ25339, KLKBL4, CT67 uc002enf.3 Q6PEW0 ENST00000219301.4:c.263+59T>C chr16.hg19:g.58324803A>G NA Q96LN9|Q9NT77 hg19 CCDS32463.1 0.02 1.593026 AACxGGG COVERED NOVEL PRSS54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422556.1 0 6.616773 KEEP 0 0 0 22 640 AA 0.999879 0.995566 0 - 4 60 133 0 0 8.631913 63 60 2299 95 ENST00000219301.4 0.059701 0.995687 PRSS54 221191 __UNKNOWN__ __UNKNOWN__ 16 58324807 58324807 __UNKNOWN__ Intron SNP T T C rs3803582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58324807T>C ENST00000219301.4 - 4 658 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGAAACAGGGTCGCCCCCACC 0.627 NA C||| 477 0.0952476 0.0658 0.1527 5008 , , NA 16710 0.1062 NA 0.1074 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK058068 CCDS32463.1 16q21 2010-05-07 ENSG00000103023 ENSG00000103023 221191 Serine peptidases / Serine peptidases 26336 protein-coding gene gene with protein product cancer/testis antigen 67 NA 17521433 Standard NM_001080492 NM_001080492 NA Approved FLJ25339, KLKBL4, CT67 uc002enf.3 Q6PEW0 ENST00000219301.4:c.263+55A>G chr16.hg19:g.58324807T>C NA Q96LN9|Q9NT77 hg19 CCDS32463.1 0.02 2.308525 GGGxCGC COVERED NOVEL PRSS54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422556.1 0 7.21045 KEEP 0 0 0 24 625 TT 0.999909 0.995596 0 - 4 60 154 0 0 10.784069 61 60 2059 96 ENST00000219301.4 0.061538 0.995687 PRSS54 221191 __UNKNOWN__ __UNKNOWN__ 16 58327646 58327646 __UNKNOWN__ Silent SNP A A G rs2288012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58327646A>G ENST00000219301.4 - 3 469 c.75T>C c.(73-75)taT>taC p.Y25Y PRSS54_ENST00000543437.1_5'UTR|PRSS54_ENST00000567164.1_Silent_p.Y25Y NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 25 NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) p.Y25Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TGGTGGAAGAATAGAGAAGGC 0.572 NA G||| 3673 0.733427 0.9115 0.6167 5008 , , NA 17036 0.631 NA 0.7773 False NA ,,, NA NA NA 2504 0.636 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 3899,497 224.3+/-240.5 1736,427,35 94 66 75 75 -0.2 0 16 dbSNP_100 75 6669,1931 333.7+/-320.7 2607,1455,238 no coding-synonymous PRSS54 NM_001080492.1 4343,1882,273 GG,GA,AA 22.4535,11.3057,18.6827 25/396 58327646 10568,2428 2198 4300 6498 SO:0001819 synonymous_variant AK058068 CCDS32463.1 16q21 2010-05-07 ENSG00000103023 ENSG00000103023 221191 Serine peptidases / Serine peptidases 26336 protein-coding gene gene with protein product cancer/testis antigen 67 NA 17521433 Standard NM_001080492 NM_001080492 NA Approved FLJ25339, KLKBL4, CT67 uc002enf.3 Q6PEW0 ENST00000219301.4:c.75T>C chr16.hg19:g.58327646A>G NA Q96LN9|Q9NT77 hg19 CCDS32463.1 0.02 4.40033 AGAxTAG COVERED NOVEL PRSS54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422556.1 0 5.716498 KEEP 0 0 0 19 600 AA 0.99986 0.999859 0 - 7 60 277 0 0 19.155527 125 60 4496 179 ENST00000219301.4 0.05303 1 PRSS54 221191 __UNKNOWN__ __UNKNOWN__ 16 58327742 58327742 __UNKNOWN__ Intron SNP C C T rs2288013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58327742C>T ENST00000219301.4 - 3 389 PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 NA NA cytoplasm (GO:0005737)|extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GAAACAAAACCCAATGACTCC 0.542 NA C||| 447 0.0892572 0.0045 0.1484 5008 , , NA 19596 0.1637 NA 0.1064 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 C 99,4297 75.7+/-113.9 1,97,2100 55 47 50 1.3 0 16 dbSNP_100 50 880,7720 186.0+/-233.6 39,802,3459 no intron PRSS54 NM_001080492.1 40,899,5559 TT,TC,CC 10.2326,2.252,7.5331 58327742 979,12017 2198 4300 6498 SO:0001627 intron_variant AK058068 CCDS32463.1 16q21 2010-05-07 ENSG00000103023 ENSG00000103023 221191 Serine peptidases / Serine peptidases 26336 protein-coding gene gene with protein product cancer/testis antigen 67 NA 17521433 Standard NM_001080492 NM_001080492 NA Approved FLJ25339, KLKBL4, CT67 uc002enf.3 Q6PEW0 ENST00000219301.4:c.6-16G>A chr16.hg19:g.58327742C>T NA Q96LN9|Q9NT77 hg19 CCDS32463.1 0.02 8.472965 AACxCAA COVERED NOVEL PRSS54-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422556.1 2 7.25236 KEEP 0 1 31 35 1188 CC 0.999999 0.999999 0 - 9 60 330 0 0 20.68501 228 60 8486 332 ENST00000219301.4 0.037975 1 SLC38A7 55238 __UNKNOWN__ __UNKNOWN__ 16 58699482 58699482 __UNKNOWN__ 3'UTR SNP C C G rs80327081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58699482C>G ENST00000570101.1 - 0 4079 SLC38A7_ENST00000219320.4_3'UTR Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 NA NA sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GCGGGCGGCTCGGCAGGGGGT 0.587 NA G||| 897 0.179113 0.407 0.1282 5008 , , NA 12754 0.0496 NA 0.1521 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001961 CCDS10800.1 16q21 2013-05-22 ENSG00000103042 ENSG00000103042 55238 Solute carriers 25582 protein-coding gene gene with protein product 614236 NA Standard NM_018231 XM_006721229 NA Approved FLJ10815 uc002eod.1 Q9NVC3 OTTHUMG00000133491 ENST00000570101.1:c.*1807G>C chr16.hg19:g.58699482C>G NA Q53GJ9|Q9H9I5 hg19 CCDS10800.1 0.02 6.568014 GCTxGGC COVERED NOVEL SLC38A7-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422206.2 3 8.725697 KEEP 0 0 0 29 914 CC 0.999997 0.999997 0 - 9 60 312 0 0 19.979512 172 60 5596 272 ENST00000570101.1 0.049724 1 SLC38A7 55238 __UNKNOWN__ __UNKNOWN__ 16 58700803 58700803 __UNKNOWN__ 3'UTR SNP C C T rs4784964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58700803C>T ENST00000564100.1 - 0 2339 SLC38A7_ENST00000219320.4_3'UTR|SLC38A7_ENST00000570101.1_3'UTR Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 NA NA sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 CCTGACTATGCATTTGCATGA 0.542 NA C||| 953 0.190296 0.4455 0.1354 5008 , , NA 20736 0.0486 NA 0.1531 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001961 CCDS10800.1 16q21 2013-05-22 ENSG00000103042 ENSG00000103042 55238 Solute carriers 25582 protein-coding gene gene with protein product 614236 NA Standard NM_018231 XM_006721229 NA Approved FLJ10815 uc002eod.1 Q9NVC3 OTTHUMG00000133491 ENST00000564100.1:c.*407G>A chr16.hg19:g.58700803C>T NA Q53GJ9|Q9H9I5 hg19 0.02 7.949707 ATGxATT COVERED NOVEL SLC38A7-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422205.1 2 7.223141 KEEP 0 0 0 24 838 CC 0.999909 0.999909 0 - 10 60 350 0 0 22.176166 207 60 7930 289 ENST00000564100.1 0.046083 1 SLC38A7 55238 __UNKNOWN__ __UNKNOWN__ 16 58700827 58700827 __UNKNOWN__ 3'UTR SNP G G T rs4784965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58700827G>T ENST00000564100.1 - 0 2315 SLC38A7_ENST00000219320.4_3'UTR|SLC38A7_ENST00000570101.1_3'UTR Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 NA NA sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 CAGTGCTACCGTTGGAAGTGG 0.557 NA T||| 963 0.192292 0.4531 0.1354 5008 , , NA 20567 0.0486 NA 0.1531 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001961 CCDS10800.1 16q21 2013-05-22 ENSG00000103042 ENSG00000103042 55238 Solute carriers 25582 protein-coding gene gene with protein product 614236 NA Standard NM_018231 XM_006721229 NA Approved FLJ10815 uc002eod.1 Q9NVC3 OTTHUMG00000133491 ENST00000564100.1:c.*383C>A chr16.hg19:g.58700827G>T NA Q53GJ9|Q9H9I5 hg19 0.02 9.287534 ACCxTTG COVERED NOVEL SLC38A7-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422205.1 2 6.621515 KEEP 0 0 0 22 774 GG 0.999879 0.999879 0 - 11 60 411 0 0 27.830229 190 60 6747 260 ENST00000564100.1 0.054726 1 SLC38A7 55238 __UNKNOWN__ __UNKNOWN__ 16 58703966 58703966 __UNKNOWN__ Intron SNP A A G rs9923128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58703966A>G ENST00000564100.1 - 8 1751 SLC38A7_ENST00000219320.4_Intron|SLC38A7_ENST00000570101.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 NA NA sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 ACAAAGCCACATTCCAATCCA 0.468 NA G||| 3345 0.667931 0.8812 0.4784 5008 , , NA 19028 0.7292 NA 0.5408 False NA ,,, NA NA NA 2504 0.5818 NA NA NA NA 0 G 3635,761 309.7+/-291.2 1503,629,66 66 54 58 -6 0 16 dbSNP_119 58 4367,4233 571.8+/-389.6 1145,2077,1078 no intron SLC38A7 NM_018231.1 2648,2706,1144 GG,GA,AA 49.2209,17.3112,38.4272 58703966 8002,4994 2198 4300 6498 SO:0001627 intron_variant BC001961 CCDS10800.1 16q21 2013-05-22 ENSG00000103042 ENSG00000103042 55238 Solute carriers 25582 protein-coding gene gene with protein product 614236 NA Standard NM_018231 XM_006721229 NA Approved FLJ10815 uc002eod.1 Q9NVC3 OTTHUMG00000133491 ENST00000564100.1:c.884-2575T>C chr16.hg19:g.58703966A>G NA Q53GJ9|Q9H9I5 hg19 0.02 9.047086 CACxTTC COVERED NOVEL SLC38A7-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422205.1 10 16.542363 KEEP 0 0 0 55 1662 AA 1 1 0 - 10 60 360 0 0 23.173917 207 60 7719 382 ENST00000564100.1 0.046083 1 SLC38A7 55238 __UNKNOWN__ __UNKNOWN__ 16 58704861 58704861 __UNKNOWN__ Intron SNP A A G rs9806843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:58704861A>G ENST00000564100.1 - 8 1751 SLC38A7_ENST00000219320.4_Intron|SLC38A7_ENST00000570101.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 NA NA sodium ion transport (GO:0006814) axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194) endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 TCTCTCCTGCATGTTTTGAGC 0.547 NA A||| 1859 0.371206 0.4728 0.2464 5008 , , NA 18240 0.3155 NA 0.4175 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC001961 CCDS10800.1 16q21 2013-05-22 ENSG00000103042 ENSG00000103042 55238 Solute carriers 25582 protein-coding gene gene with protein product 614236 NA Standard NM_018231 XM_006721229 NA Approved FLJ10815 uc002eod.1 Q9NVC3 OTTHUMG00000133491 ENST00000564100.1:c.884-3470T>C chr16.hg19:g.58704861A>G NA Q53GJ9|Q9H9I5 hg19 0.02 3.361685 TGCxTGT COVERED NOVEL SLC38A7-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000422205.1 0 3.008951 KEEP 0 0 0 10 311 AA 0.992708 0.992705 0 - 7 60 225 0 0 14.367228 109 60 3948 135 ENST00000564100.1 0.060345 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 63214361 63214361 __UNKNOWN__ IGR SNP T T G rs12928516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:63214361T>G NA NA RP11-96H17.1 (50803 upstream) : RP11-2K6.2 (188386 downstream) NA NA NA CCTTCTGCAGTACAACATAGT 0.413 NA G||| 1656 0.330671 0.2965 0.1945 5008 , , NA 17409 0.3661 NA 0.328 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.63214361T>G NA hg19 0.02 2.51713 CAGxACA COVERED NOVEL 0 0 3.008726 KEEP 0 0 0 10 298 TT 0.992708 0.986456 0 27 60 974 0 0 91.125167 38 60 1318 81 0.415385 0.993703 CDH5 1003 __UNKNOWN__ __UNKNOWN__ 16 66413195 66413195 __UNKNOWN__ Intron SNP G G A rs7499886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:66413195G>A ENST00000341529.3 + 2 129 CDH5_ENST00000563425.2_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) NA NA adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114) cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102) central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) Lenalidomide(DB00480) actggccagagtctgAATGTG 0.532 NA G||| 2458 0.490815 0.559 0.6326 5008 , , NA 21161 0.4881 NA 0.3936 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 G 2375,2015 671,1033,491 57 59 58 -0.9 0 16 dbSNP_116 58 3646,4922 790,2066,1428 yes intron CDH5 NM_001795.3 1461,3099,1919 AA,AG,GG 42.5537,45.8998,46.4655 66413195 6021,6937 2195 4284 6479 SO:0001627 intron_variant X79981 CCDS10804.1 16q22.1 2010-01-26 2008-07-25 ENSG00000179776 ENSG00000179776 1003 CD molecules, Cadherins / Major cadherins 1764 protein-coding gene gene with protein product VE-cadherin 601120 cadherin 5, type 2, VE-cadherin (vascular epithelium) NA 2059658 Standard NM_001795 NM_001795 NA Approved 7B4, CD144 uc002eom.4 P33151 OTTHUMG00000137495 ENST00000341529.3:c.-19-27G>A chr16.hg19:g.66413195G>A NA Q4VAI5|Q4VAI6 hg19 CCDS10804.1 0.02 14.39573 AGAxTCT COVERED NOVEL CDH5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268767.1 2 6.76194 KEEP 0 4 124 66 2394 GG 1 1 0 + 16 60 564 0 0 35.059142 374 60 14277 587 ENST00000341529.3 0.041026 1 CCDC79 283847 __UNKNOWN__ __UNKNOWN__ 16 66824853 66824853 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:66824853T>C ENST00000558713.2 - 3 173 c.101A>G c.(100-102)aAg>aGg p.K34R CCDC79_ENST00000433574.1_Missense_Mutation_p.K34R|CCDC79_ENST00000432602.1_Missense_Mutation_p.K34R|CCDC79_ENST00000561333.1_5'UTR|CCDC79_ENST00000433154.1_Missense_Mutation_p.K34R|CCDC79_ENST00000415744.1_Missense_Mutation_p.K34R Q8NA31 TERB1_HUMAN coiled-coil domain containing 79 34 NA meiotic telomere clustering (GO:0045141)|synapsis (GO:0007129) chromosome, telomeric region (GO:0000781) chromatin binding (GO:0003682)|DNA binding (GO:0003677) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|skin(2) 7 CAAAGCTTCCTTTTGTGAAAA 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 157 137 143 NA NA 16 NA 66824853 692 1586 2278 SO:0001583 missense AK093213 16q22.1 2012-10-03 ENSG00000249961 ENSG00000249961 283847 26675 protein-coding gene gene with protein product NA Standard NM_001136505 NA Approved FLJ35894 uc010viv.2 Q8NA31 OTTHUMG00000133562 ENST00000558713.2:c.101A>G chr16.hg19:g.66824853T>C ENSP00000462883:p.Lys34Arg NA A0AUW1 hg19 0.02 1.810695 TCCxTTT COVERED . . . . . . . . . . T 14.89 2.671360 0.47781 . . ENSG00000177461 ENST00000433154;ENST00000432602;ENST00000433574;ENST00000415744 T;T;T;T 0.21191 2.02;2.02;2.02;2.02 5.53 5.53 0.82687 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.43366 0.1244 M 0.66939 2.045 0.40670 D 0.982206 D;D 0.89917 0.999;1.0 D;D 0.87578 0.984;0.998 T 0.27502 -1.0072 10 0.27785 T 0.31 -13.1186 14.2207 0.65826 0.0:0.0:0.0:1.0 . 34;34 Q8NA31;Q8NA31-2 CCD79_HUMAN;. R 34 ENSP00000463762:K34R;ENSP00000462977:K34R;ENSP00000462037:K34R;ENSP00000462236:K34R ENSP00000440822:K34R K - 2 0 CCDC79 65382354 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 6.975000 0.76128 2.085000 0.62840 0.533000 0.62120 AAG NOVEL CCDC79-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000418864.2 1 8.125619 KEEP 0 0 0 27 889 TT 0.999988 0.99995 0 - 5 60 166 0 0 10.491809 95 60 3490 160 ENST00000558713.2 0.05 0.999962 NAE1 8883 __UNKNOWN__ __UNKNOWN__ 16 66854661 66854661 __UNKNOWN__ Intron SNP G G A rs12600037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:66854661G>A ENST00000290810.3 - 7 609 NAE1_ENST00000379463.2_Intron|NAE1_ENST00000564040.2_Intron|NAE1_ENST00000394074.2_Intron|NAE1_ENST00000359087.4_Intron Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 NA NA mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) aaaattagccgggcacggtgg 0.577 NA G||| 1943 0.387979 0.0764 0.464 5008 , , NA 14871 0.6161 NA 0.4732 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U50939 CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1 16q22 2013-09-26 2007-12-11 2007-12-11 ENSG00000159593 ENSG00000159593 8883 Ubiquitin-like modifier activating enzymes 621 protein-coding gene gene with protein product 603385 amyloid beta precursor protein binding protein 1, 59kDa APPBP1 NA 8626687, 12740388 Standard NM_003905 XM_005256215 NA Approved ula-1 uc002eqf.3 Q13564 OTTHUMG00000137513 ENST00000290810.3:c.511+691C>T chr16.hg19:g.66854661G>A NA A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9 hg19 CCDS10820.1 0.02 -0.026319 GCCxGGC UNCOVERED NOVEL NAE1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268832.1 8 2.708742 KEEP 6 0 0 9 307 GG 0 0 0 - 3 40 109 0 0 12.330994 0 0 0 15 ENST00000290810.3 1 0 EXOC3L1 283849 __UNKNOWN__ __UNKNOWN__ 16 67221190 67221190 __UNKNOWN__ Silent SNP C C T rs145591305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:67221190C>T ENST00000314586.6 - 5 1218 c.978G>A c.(976-978)ggG>ggA p.G326G EXOC3L1_ENST00000562887.1_Intron NM_178516.3 NP_848611.2 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 1 326 Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}. NA exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072) exocyst (GO:0000145)|secretory granule (GO:0030141) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 CTAGCTCAGGCCCTGCAAGGA 0.622 NA C||| 7 0.00139776 0.0 0.0 5008 , , NA 21034 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK092858 CCDS10832.1 16q22.1 2011-01-31 2011-01-31 2011-01-31 ENSG00000179044 ENSG00000179044 283849 27540 protein-coding gene gene with protein product 614117 exocyst complex component 3-like EXOC3L NA 12477932 Standard NM_178516 NM_178516 NA Approved FLJ35539, FLJ35587 uc002erx.1 Q86VI1 OTTHUMG00000137508 ENST00000314586.6:c.978G>A chr16.hg19:g.67221190C>T NA A8K7I9|Q8NAD2|Q8TEN2 hg19 CCDS10832.1 0.02 7.309013 AGGxCCT COVERED NOVEL EXOC3L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268827.2 4 36.973289 KEEP 0 0 0 123 4277 CC 1 1 0 - 7 60 245 0 0 14.051033 238 60 8627 454 ENST00000314586.6 0.028571 1 NFATC3 4775 __UNKNOWN__ __UNKNOWN__ 16 68156067 68156067 __UNKNOWN__ Missense_Mutation SNP A A C rs3743736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:68156067A>C ENST00000575270.1 + 2 619 c.281A>C c.(280-282)gAa>gCa p.E94A RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.E94A|NFATC3_ENST00000346183.3_Missense_Mutation_p.E94A|NFATC3_ENST00000349223.5_Missense_Mutation_p.E94A Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 94 NA E -> A (in dbSNP:rs3743736). cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GAGATTCCTGAATCTAAATAT 0.398 NA A||| 7 0.00139776 0.0 0.0014 5008 , , NA 19892 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 138 125 130 NA NA 16 NA 68156067 2198 4300 6498 SO:0001583 missense L41067 CCDS10860.1, CCDS10861.1, CCDS10862.1 16q22 2009-11-24 ENSG00000072736 ENSG00000072736 4775 Nuclear factor of activated T-cells 7777 protein-coding gene gene with protein product 602698 NA 7749981 Standard NM_004555 NM_004555 NA Approved NFAT4, NFATX uc002evo.2 Q12968 OTTHUMG00000137555 ENST00000575270.1:c.281A>C chr16.hg19:g.68156067A>C ENSP00000460533:p.Glu94Ala NA O75211|Q14516|Q99840|Q99841|Q99842 hg19 0.02 25.190856 CTGxATC COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 A 16.28 3.078421 0.55753 . . ENSG00000072736 ENST00000349223;ENST00000346183;ENST00000329524 T;T;T 0.08634 3.07;3.07;3.07 5.71 5.71 0.89125 . 0.100325 0.64402 D 0.000002 T 0.08447 0.0210 L 0.44542 1.39 0.54753 D 0.999989 P;P;P;P 0.50443 0.935;0.914;0.737;0.737 B;P;B;B 0.46825 0.399;0.528;0.24;0.24 T 0.14008 -1.0488 10 0.25751 T 0.34 -13.6426 15.5069 0.75748 1.0:0.0:0.0:0.0 rs3743736;rs3743736 94;94;94;94 Q12968;Q12968-3;B5B2S0;B5B2S2 NFAC3_HUMAN;.;.;. A 94 ENSP00000264008:E94A;ENSP00000300659:E94A;ENSP00000331324:E94A ENSP00000331324:E94A E + 2 0 NFATC3 66713568 1.000000 0.71417 1.000000 0.80357 0.901000 0.52897 3.279000 0.51670 2.313000 0.78055 0.456000 0.33151 GAA NOVEL NFATC3-023 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000436934.2 2 26.176413 KEEP 0 0 0 87 2689 AA 1 1 0 + 24 60 901 0 0 57.989593 566 60 20324 779 ENST00000575270.1 0.040678 1 NFATC3 4775 __UNKNOWN__ __UNKNOWN__ 16 68156829 68156829 __UNKNOWN__ Missense_Mutation SNP C C T rs146091507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:68156829C>T ENST00000575270.1 + 2 1381 c.1043C>T c.(1042-1044)gCt>gTt p.A348V NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.A348V|NFATC3_ENST00000346183.3_Missense_Mutation_p.A348V|NFATC3_ENST00000349223.5_Missense_Mutation_p.A348V Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 348 NA cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GAAGATCAAGCTGCCATACTA 0.468 NA C||| 6 0.00119808 0.0 0.0 5008 , , NA 20692 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 148 149 148 NA NA 16 NA 68156829 2198 4300 6498 SO:0001583 missense L41067 CCDS10860.1, CCDS10861.1, CCDS10862.1 16q22 2009-11-24 ENSG00000072736 ENSG00000072736 4775 Nuclear factor of activated T-cells 7777 protein-coding gene gene with protein product 602698 NA 7749981 Standard NM_004555 NM_004555 NA Approved NFAT4, NFATX uc002evo.2 Q12968 OTTHUMG00000137555 ENST00000575270.1:c.1043C>T chr16.hg19:g.68156829C>T ENSP00000460533:p.Ala348Val NA O75211|Q14516|Q99840|Q99841|Q99842 hg19 0.02 11.714809 AAGxTGC COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 C 15.84 2.953143 0.53293 . . ENSG00000072736 ENST00000349223;ENST00000346183;ENST00000329524 T;T;T 0.08984 3.03;3.03;3.03 5.39 5.39 0.77823 . 0.332375 0.22298 N 0.061903 T 0.04907 0.0132 L 0.27053 0.805 0.40798 D 0.983319 P;P;P;P 0.38827 0.544;0.649;0.544;0.544 B;B;B;B 0.36567 0.079;0.228;0.113;0.113 T 0.46884 -0.9159 9 . . . -15.4264 15.0526 0.71888 0.0:0.8584:0.1416:0.0 . 348;348;348;348 Q12968;Q12968-3;B5B2S0;B5B2S2 NFAC3_HUMAN;.;.;. V 348 ENSP00000264008:A348V;ENSP00000300659:A348V;ENSP00000331324:A348V . A + 2 0 NFATC3 66714330 1.000000 0.71417 0.999000 0.59377 0.996000 0.88848 5.656000 0.67988 2.683000 0.91414 0.563000 0.77884 GCT NOVEL NFATC3-023 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000436934.2 1 16.253397 KEEP 0 0 0 54 1958 CC 1 1 0 + 13 60 450 0 0 27.586351 308 60 11686 433 ENST00000575270.1 0.040498 1 PLA2G15 23659 __UNKNOWN__ __UNKNOWN__ 16 68294800 68294800 __UNKNOWN__ 3'UTR SNP C C G rs7672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:68294800C>G ENST00000219345.5 + 0 2562 NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV NA NA ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739) calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543) kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 GACGCCTTCACGCTGGACTGA 0.572 NA G||| 4055 0.809704 0.9758 0.7637 5008 , , NA 19440 0.8929 NA 0.6839 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB017494 CCDS10864.1 16q22.1 2008-09-19 2008-09-19 2008-09-19 ENSG00000103066 ENSG00000103066 23659 17163 protein-coding gene gene with protein product 609362 lysophospholipase 3 (lysosomal phospholipase A2) LYPLA3 NA 10092508, 16973413 Standard NM_012320 XM_005255886 NA Approved LLPL, GXVPLA2 uc002evr.3 Q8NCC3 OTTHUMG00000137554 ENST00000219345.5:c.*1240C>G chr16.hg19:g.68294800C>G NA B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3 hg19 CCDS10864.1 0.02 7.467266 TCAxGCT COVERED NOVEL PLA2G15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268888.2 1 11.758043 KEEP 0 1 34 51 1757 CC 1 1 0 + 7 60 270 0 0 17.877808 152 60 5426 256 ENST00000219345.5 0.044025 1 SLC7A6 9057 __UNKNOWN__ __UNKNOWN__ 16 68332747 68332747 __UNKNOWN__ 3'UTR SNP G G A rs1127773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:68332747G>A ENST00000566454.1 + 0 3333 SLC7A6OS_ENST00000263997.6_3'UTR|SLC7A6_ENST00000219343.6_3'UTR NM_001076785.2 NP_001070253.1 solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 NA NA breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CTGTCATCCTGGGCCGAGAAG 0.498 NA G||| 2589 0.516973 0.3328 0.6138 5008 , , NA 20800 0.7897 NA 0.5159 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87432 CCDS32470.1 16q22.1 2013-07-15 2011-07-12 ENSG00000103064 ENSG00000103064 9057 Solute carriers 11064 protein-coding gene gene with protein product 605641 NA 9878049 Standard NM_003983 NM_001076785 NA Approved y+LAT-2, KIAA0245, LAT3, LAT-2 uc002evu.2 Q92536 OTTHUMG00000176544 ENST00000566454.1:c.*1516G>A chr16.hg19:g.68332747G>A NA hg19 CCDS32470.1 0.02 10.56061 CCTxGGC COVERED NOVEL SLC7A6-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000432466.1 5 17.155892 KEEP 0 0 0 57 2010 GG 1 1 0 + 10 60 367 0 0 22.530277 284 60 10426 425 ENST00000566454.1 0.034014 1 SMPD3 55512 __UNKNOWN__ __UNKNOWN__ 16 68405983 68405983 __UNKNOWN__ Silent SNP G G A rs199814028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:68405983G>A ENST00000219334.5 - 3 705 c.102C>T c.(100-102)ctC>ctT p.L34L SMPD3_ENST00000563226.1_Silent_p.L34L|SMPD3_ENST00000568373.1_Silent_p.L34L NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 34 NA cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685) Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) AGGAGGCAGCGAGCCGGTCCA 0.612 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 12133 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 1,4393 0,1,2196 38 40 39 102 -1.8 0 16 39 0,8596 0,0,4298 no coding-synonymous SMPD3 NM_018667.3 0,1,6494 AA,AG,GG 0.0,0.0228,0.0077 34/656 68405983 1,12989 2197 4298 6495 SO:0001819 synonymous_variant AJ250460 CCDS10867.1 16q22.1 2008-02-05 ENSG00000103056 ENSG00000103056 55512 14240 protein-coding gene gene with protein product 605777 NA 10823942 Standard NM_018667 NM_018667 NA Approved NSMASE2 uc002ewa.3 Q9NY59 OTTHUMG00000137559 ENST00000219334.5:c.102C>T chr16.hg19:g.68405983G>A NA B7ZL82|Q2M1S8 hg19 CCDS10867.1 0.02 4.021529 AGCxAGC COVERED NOVEL SMPD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268895.3 1 10.23241 KEEP 0 0 0 34 1136 GG 0.999998 0.999998 0 - 6 60 218 0 1 13.891843 135 60 4533 267 ENST00000219334.5 0.042553 1 TANGO6 79613 __UNKNOWN__ __UNKNOWN__ 16 68893781 68893781 __UNKNOWN__ Intron SNP C C T rs17690624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:68893781C>T ENST00000261778.1 + 2 106 NM_024562.1 NP_078838.1 Q9C0B7 TNG6_HUMAN transport and golgi organization 6 homolog (Drosophila) NA NA integral component of membrane (GO:0016021) NA TTTTCTTCTTCAAAAGGCTCG 0.468 NA C||| 405 0.0808706 0.0756 0.0663 5008 , , NA 19791 0.0883 NA 0.1183 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 C 309,3399 9,291,1554 32 32 32 -4.4 0 16 dbSNP_123 32 987,7207 63,861,3173 no intron TMCO7 NM_024562.1 72,1152,4727 TT,TC,CC 12.0454,8.3333,10.8889 68893781 1296,10606 1854 4097 5951 SO:0001627 intron_variant CCDS45516.1 16q22.1 2012-12-13 2012-12-13 2012-12-13 ENSG00000103047 ENSG00000103047 79613 25749 protein-coding gene gene with protein product transmembrane and coiled-coil domains 7 TMCO7 NA 11214970 Standard XM_928235.2 NM_024562 NA Approved FLJ12688, KIAA1746 uc002ewi.4 Q9C0B7 OTTHUMG00000176743 ENST00000261778.1:c.95-6C>T chr16.hg19:g.68893781C>T NA Q569F9|Q9H9K1 hg19 CCDS45516.1 0.02 6.458257 CTTxAAA COVERED NOVEL TANGO6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433471.2 0 11.13508 KEEP 0 0 0 37 1271 CC 1 1 0 + 9 60 331 1 0 21.815617 174 60 6529 261 ENST00000261778.1 0.04918 1 CIRH1A 84916 __UNKNOWN__ __UNKNOWN__ 16 69194486 69194486 __UNKNOWN__ Intron SNP A A T rs77742534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:69194486A>T ENST00000314423.7 + 13 1728 CIRH1A_ENST00000563094.1_Intron|CIRH1A_ENST00000352319.4_Intron Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) NA NA maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|t-UTP complex (GO:0034455) poly(A) RNA binding (GO:0044822) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ttttctttttattttcttttc 0.403 NA NA NA NA NA NA NA NA NA NA Melanoma(69;1156 1278 4951 8715 52012) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB075868 CCDS10872.1 16q22 2014-04-07 ENSG00000141076 ENSG00000141076 84916 WD repeat domain containing 1983 protein-coding gene gene with protein product UTP4, small subunit (SSU) processome component, homolog (yeast) 607456 NA 10820129, 20385600 Standard NM_032830 NM_032830 NA Approved NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4 uc002ews.4 Q969X6 OTTHUMG00000137570 ENST00000314423.7:c.1551+121A>T chr16.hg19:g.69194486A>T NA Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6 hg19 CCDS10872.1 0.02 3.118823 TTTxTTT COVERED NOVEL CIRH1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268950.2 10 5.461384 KEEP 0 9 90 52 1342 AA 1 0.999999 0 + 21 70 269 0 0 13.385203 99 70 2997 216 ENST00000314423.7 0.175 0.999999 CYB5B 80777 __UNKNOWN__ __UNKNOWN__ 16 69458591 69458591 __UNKNOWN__ 5'UTR SNP C C T rs117949766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:69458591C>T ENST00000512062.1 + 0 164 CYB5B_ENST00000307892.8_Missense_Mutation_p.S2F|CYB5B_ENST00000515314.1_5'UTR|CYB5B_ENST00000561792.1_5'UTR O43169 CYB5B_HUMAN cytochrome b5 type B (outer mitochondrial membrane) NA NA oxidation-reduction process (GO:0055114) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741) heme binding (GO:0020037)|metal ion binding (GO:0046872) endometrium(3)|kidney(3)|lung(2) 8 Ovarian(137;0.101) GGCAGTATGTCCGGTTCAATG 0.597 NA C||| 83 0.0165735 0.0 0.0 5008 , , NA 19420 0.0813 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C PHE/SER 1,4043 0,1,2021 74 77 76 5 -0.9 0 16 dbSNP_132 76 0,8396 0,0,4198 yes missense CYB5B NM_030579.2 155 0,1,6219 TT,TC,CC 0.0,0.0247,0.0080 2/151 69458591 1,12439 2022 4198 6220 SO:0001623 5_prime_UTR_variant CCDS10880.2 16q22.1 2006-02-02 ENSG00000103018 ENSG00000103018 80777 24374 protein-coding gene gene with protein product 611964 NA 11867265, 14733950 Standard NM_030579 NM_030579 NA Approved CYB5-M uc002exg.1 O43169 OTTHUMG00000133020 ENST00000512062.1:c.-8C>T chr16.hg19:g.69458591C>T NA A8K6B1|Q96CC3|Q9BT35 hg19 0.02 26.505353 TGTxCGG COVERED 32 0.014652014652014652 0 0.0 0 0.0 30 0.05244755244755245 2 0.002638522427440633 C 16.52 3.146220 0.57044 2.47E-4 0.0 ENSG00000103018 ENST00000307892 D 0.83163 -1.69 5.78 -0.933 0.10431 . 2.937940 0.02215 U 0.063516 T 0.44435 0.1293 . . . 0.09310 N 1 . . . . . . T 0.60530 -0.7245 7 0.87932 D 0 8.1502 5.4371 0.16488 0.0:0.4497:0.2522:0.2981 . . . . F 2 ENSP00000308430:S2F ENSP00000308430:S2F S + 2 0 CYB5B 68016092 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.228000 0.09114 -0.048000 0.13401 0.655000 0.94253 TCC NOVEL CYB5B-001 KNOWN upstream_ATG|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000256606.2 2 59.525392 KEEP 0 1 32 209 7284 CC 1 1 0 + 20 60 698 1 0 40.110955 667 60 24531 1092 ENST00000512062.1 0.029112 1 WWP2 11060 __UNKNOWN__ __UNKNOWN__ 16 69963403 69963403 __UNKNOWN__ Silent SNP G G A rs1875245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:69963403G>A ENST00000359154.2 + 12 1388 c.1287G>A c.(1285-1287)acG>acA p.T429T WWP2_ENST00000356003.2_Silent_p.T429T|WWP2_ENST00000542271.1_Silent_p.T313T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.T429T|WWP2_ENST00000568684.1_5'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 429 WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}. NA cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842) breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACACTCGCACGACCCAGTGGG 0.582 NA OREG0023910 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 246 0.0491214 0.0257 0.0086 5008 , , NA 17263 0.124 NA 0.0348 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 G , 119,4277 89.2+/-127.9 4,111,2083 58 55 56 1287, -9 0.7 16 dbSNP_92 56 283,8317 105.8+/-166.7 3,277,4020 no coding-synonymous,utr-5 WWP2 NM_007014.3,NM_199424.1 , 7,388,6103 AA,AG,GG 3.2907,2.707,3.0933 , 429/871, 69963403 402,12594 2198 4300 6498 SO:0001819 synonymous_variant BC013645 CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1 16q22.1 2008-02-05 ENSG00000198373 ENSG00000198373 11060 16804 protein-coding gene gene with protein product 602308 NA 9169421, 12167593 Standard NM_007014 NM_007014 NA Approved AIP2 uc002exv.2 O00308 OTTHUMG00000137573 ENST00000359154.2:c.1287G>A chr16.hg19:g.69963403G>A 1118 A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6 hg19 CCDS10885.1 0.02 6.068224 CACxACC COVERED NOVEL WWP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268954.1 2 26.481712 KEEP 0 0 0 88 2944 GG 1 1 0 + 10 60 331 0 0 21.258923 172 60 6121 346 ENST00000359154.2 0.054945 1 WWP2 11060 __UNKNOWN__ __UNKNOWN__ 16 69973941 69973941 __UNKNOWN__ 3'UTR SNP G G A rs187148786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:69973941G>A ENST00000359154.2 + 0 2812 WWP2_ENST00000356003.2_3'UTR|WWP2_ENST00000542271.1_3'UTR|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_3'UTR|WWP2_ENST00000568684.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 NA NA cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842) breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGGCCCCCGTGGATGTGGCCC 0.682 NA G||| 13 0.00259585 0.0 0.0 5008 , , NA 16830 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013645 CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1 16q22.1 2008-02-05 ENSG00000198373 ENSG00000198373 11060 16804 protein-coding gene gene with protein product 602308 NA 9169421, 12167593 Standard NM_007014 NM_007014 NA Approved AIP2 uc002exv.2 O00308 OTTHUMG00000137573 ENST00000359154.2:c.*98G>A chr16.hg19:g.69973941G>A NA A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6 hg19 CCDS10885.1 0.02 7.088749 CGTxGAT COVERED NOVEL WWP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268954.1 0 5.717315 KEEP 0 0 0 19 627 GG 0.99986 0.99986 0 + 8 60 272 0 0 17.07834 160 60 5743 196 ENST00000359154.2 0.047619 1 CLEC18A 348174 __UNKNOWN__ __UNKNOWN__ 16 69985148 69985148 __UNKNOWN__ 5'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:69985148C>T ENST00000288040.6 + 0 66 CLEC18A_ENST00000449317.2_5'UTR|CLEC18A_ENST00000393701.2_Intron|CLEC18A_ENST00000568461.1_Intron NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A NA NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|lung(1)|skin(1) 5 ACCAGCCTCCCTCTTTTGTCC 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF428259 CCDS10886.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157322 348174 C-type lectin domain containing 30388 protein-coding gene gene with protein product mannose receptor-like NA 12975309 Standard NM_182619 NM_001136214 NA Approved MRCL uc010vlo.3 A5D8T8 ENST00000288040.6:c.-122C>T chr16.hg19:g.69985148C>T NA A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2 hg19 CCDS10886.1 0.02 9.679407 TCCxTCT COVERED NOVEL CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268955.2 2 21.366529 KEEP 291 0 0 71 2471 CC 0.999931 0.999931 0 + 12 25 456 0 0 30.731211 224 27 8025 721 ENST00000288040.6 0.050847 1 CLEC18A 348174 __UNKNOWN__ __UNKNOWN__ 16 69996868 69996868 __UNKNOWN__ Intron SNP A A C rs62050607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:69996868A>C ENST00000288040.6 + 11 1398 CLEC18A_ENST00000449317.2_Intron|CLEC18A_ENST00000393701.2_Intron|CLEC18A_ENST00000568461.1_Intron NM_001136214.2 NP_001129686.1 A5D8T8 CL18A_HUMAN C-type lectin domain family 18, member A NA NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|lung(1)|skin(1) 5 CCACCACACCATGGCCTGCAG 0.607 NA .||| 113 0.0225639 0.0053 0.0317 5008 , , NA 17901 0.0069 NA 0.0457 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 56 38 44 NA NA 16 NA 69996868 2177 3860 6037 SO:0001627 intron_variant AF428259 CCDS10886.1 16q22.1 2010-04-27 2009-03-10 2009-03-10 ENSG00000157322 348174 C-type lectin domain containing 30388 protein-coding gene gene with protein product mannose receptor-like NA 12975309 Standard NM_182619 NM_001136214 NA Approved MRCL uc010vlo.3 A5D8T8 ENST00000288040.6:c.1212-11A>C chr16.hg19:g.69996868A>C NA A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2 hg19 CCDS10886.1 0.02 4.864661 ACCxTGG COVERED NOVEL CLEC18A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000268955.2 1 14.744733 KEEP 8 0 0 49 1535 AA 1 1 0 + 7 25 262 0 0 17.521706 131 55 4821 253 ENST00000288040.6 0.050725 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 70285901 70285901 __UNKNOWN__ IGR SNP A A G rs4985407 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70285901A>G NA NA EXOSC6 (68 upstream) : AARS (296 downstream) NA NA NA TGGGCTGTCGAGAGAGCGGCG 0.657 NA OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 2724 0.54393 0.8396 0.4438 5008 , , NA 12701 0.4256 NA 0.5388 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.70285901A>G 1121 hg19 0.02 -0.324436 TCGxGAG COVERED NOVEL 0 1 3.91164 KEEP 0 0 0 13 399 AA 0.994391 0.831028 0 4 60 134 0 0 9.807851 33 60 1194 56 0.108108 0.835716 AARS 16 __UNKNOWN__ __UNKNOWN__ 16 70303580 70303580 __UNKNOWN__ Silent SNP G G A rs2070203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70303580G>A ENST00000261772.8 - 7 1046 c.903C>T c.(901-903)caC>caT p.H301H NM_001605.2 NP_001596.2 alanyl-tRNA synthetase NA NA breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) TGGTCCGAGCGTGGTCAGCCA 0.587 NA G||| 2130 0.425319 0.438 0.4078 5008 , , NA 18233 0.4256 NA 0.5338 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 GRCh37 CM995271 AARS M rs2070203 G 2071,2325 570.7+/-382.9 465,1141,592 200 167 178 903 -11.3 0.1 16 dbSNP_96 178 4307,4293 578.3+/-390.7 1084,2139,1077 yes coding-synonymous AARS NM_001605.2 1549,3280,1669 AA,AG,GG 49.9186,47.111,49.0766 301/969 70303580 6378,6618 2198 4300 6498 SO:0001819 synonymous_variant D32050 CCDS32474.1 16q22.1 2014-09-17 ENSG00000090861 ENSG00000090861 16 6.1.1.7 Aminoacyl tRNA synthetases / Class II 20 protein-coding gene gene with protein product alanine tRNA ligase 1, cytoplasmic 601065 NA 8595897 Standard NM_001605 NM_001605 NA Approved uc002eyn.1 P49588 OTTHUMG00000177042 ENST00000261772.8:c.903C>T chr16.hg19:g.70303580G>A NA hg19 CCDS32474.1 0.02 11.495399 AGCxTGG COVERED NOVEL AARS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435021.2 2 14.680865 KEEP 0 1 32 60 2065 GG 1 1 0 - 8 60 308 0 0 19.179955 247 60 8638 398 ENST00000261772.8 0.031373 1 FUK 197258 __UNKNOWN__ __UNKNOWN__ 16 70506907 70506907 __UNKNOWN__ 5'UTR SNP T T C rs7192865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70506907T>C ENST00000571514.1 + 0 640 FUK_ENST00000378912.2_Silent_p.P508P|FUK_ENST00000288078.6_Silent_p.P476P Q8N0W3 FUK_HUMAN fucokinase NA NA cytoplasm (GO:0005737) ATP binding (GO:0005524)|fucokinase activity (GO:0050201) p.P476P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) TGTGGGACCCTGAGACGCTGC 0.647 NA C||| 2895 0.578075 0.7821 0.5764 5008 , , NA 15962 0.6607 NA 0.498 False NA ,,, NA NA NA 2504 0.3006 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C 3008,986 1159,690,148 11 16 15 1428 -2.7 0.9 16 dbSNP_116 15 4055,4293 1019,2017,1138 no coding-synonymous FUK NM_145059.2 2178,2707,1286 CC,CT,TT 48.5745,24.687,42.7726 476/1085 70506907 7063,5279 1997 4174 6171 SO:0001623 5_prime_UTR_variant CCDS10891.2 16q22.1 2008-02-05 ENSG00000157353 ENSG00000157353 197258 2.7.1.52 29500 protein-coding gene gene with protein product L-fucose kinase 608675 NA 12056818 Standard NM_145059 XM_006721161 NA Approved FLJ39408 uc002eyy.3 Q8N0W3 OTTHUMG00000074085 ENST00000571514.1:c.-94T>C chr16.hg19:g.70506907T>C NA Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9 hg19 0.02 6.088964 CCCxGAG COVERED NOVEL FUK-007 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000437736.2 2 17.752851 KEEP 0 0 0 59 1859 TT 1 1 0 + 6 60 215 0 0 12.804395 184 60 6771 317 ENST00000571514.1 0.031579 1 COG4 25839 __UNKNOWN__ __UNKNOWN__ 16 70514506 70514506 __UNKNOWN__ 3'UTR SNP A A C rs78726068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70514506A>C ENST00000323786.5 - 0 2798 NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 NA NA Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) AGGGATCATAAACATCACAGC 0.512 NA A||| 77 0.0153754 0.0 0.0 5008 , , NA 20747 0.0704 NA 0.005 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL050101 CCDS10892.2, CCDS73909.1 16q22.1 2013-09-20 ENSG00000103051 ENSG00000103051 25839 Components of oligomeric golgi complex 18620 protein-coding gene gene with protein product 606976 NA 11980916 Standard NM_015386 NA Approved COD1, DKFZP586E1519 uc002ezc.3 Q9H9E3 OTTHUMG00000128515 ENST00000323786.5:c.*407T>G chr16.hg19:g.70514506A>C NA B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3 hg19 CCDS10892.2 0.02 4.57525 ATAxACA COVERED NOVEL COG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250326.3 0 5.416015 KEEP 0 0 0 18 567 AA 0.999859 0.999855 0 - 7 60 266 0 0 18.515041 107 60 3796 153 ENST00000323786.5 0.061404 0.999996 VAC14 55697 __UNKNOWN__ __UNKNOWN__ 16 70796515 70796515 __UNKNOWN__ Intron SNP G G A rs2305689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70796515G>A ENST00000261776.5 - 12 1566 VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772) receptor activity (GO:0004872) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) ACATCTGGAGGGCAGAGAAGC 0.612 NA A||| 2985 0.596046 0.4841 0.7608 5008 , , NA 19206 0.5188 NA 0.6561 False NA ,,, NA NA NA 2504 0.6483 NA NA NA NA 0 A 2236,2160 581.4+/-385.4 556,1124,518 121 73 89 1.3 0.5 16 dbSNP_100 89 5596,3004 462.1+/-365.6 1832,1932,536 no intron VAC14 NM_018052.3 2388,3056,1054 AA,AG,GG 34.9302,49.1356,39.7353 70796515 7832,5164 2198 4300 6498 SO:0001627 intron_variant AK056433 CCDS10896.1 16q22.1 2010-03-23 2005-02-09 ENSG00000103043 ENSG00000103043 55697 25507 protein-coding gene gene with protein product 604632 Tax1 (human T-cell leukemia virus type I) binding protein 2 TAX1BP2 NA 15542851, 12719380 Standard NM_018052 NM_018052 NA Approved FLJ10305, ArPIKfyve uc002ezm.3 Q08AM6 OTTHUMG00000137583 ENST00000261776.5:c.1306-7C>T chr16.hg19:g.70796515G>A NA B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6 hg19 CCDS10896.1 0.02 4.186583 GAGxGCA COVERED NOVEL VAC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268973.3 1 4.917733 KEEP 0 3 81 45 1578 GG 1 1 0 - 8 60 281 0 0 18.462004 139 60 5112 240 ENST00000261776.5 0.054422 1 VAC14 55697 __UNKNOWN__ __UNKNOWN__ 16 70796535 70796535 __UNKNOWN__ Intron SNP C C T rs2305690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70796535C>T ENST00000261776.5 - 12 1566 VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772) receptor activity (GO:0004872) breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) CAGGGGTGCCCGTGAGTGCTC 0.612 NA C||| 2940 0.587061 0.4629 0.755 5008 , , NA 18675 0.5169 NA 0.6441 False NA ,,, NA NA NA 2504 0.6493 NA NA NA NA 0 C 2168,2228 577.4+/-384.4 531,1106,561 108 63 78 -9.8 0 16 dbSNP_100 78 5497,3103 652.3+/-400.9 1775,1947,578 no intron VAC14 NM_018052.3 2306,3053,1139 TT,TC,CC 36.0814,49.3176,41.0203 70796535 7665,5331 2198 4300 6498 SO:0001627 intron_variant AK056433 CCDS10896.1 16q22.1 2010-03-23 2005-02-09 ENSG00000103043 ENSG00000103043 55697 25507 protein-coding gene gene with protein product 604632 Tax1 (human T-cell leukemia virus type I) binding protein 2 TAX1BP2 NA 15542851, 12719380 Standard NM_018052 NM_018052 NA Approved FLJ10305, ArPIKfyve uc002ezm.3 Q08AM6 OTTHUMG00000137583 ENST00000261776.5:c.1306-27G>A chr16.hg19:g.70796535C>T NA B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6 hg19 CCDS10896.1 0.02 4.235498 GCCxGTG COVERED NOVEL VAC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268973.3 1 3.759782 KEEP 0 2 58 33 1090 CC 0.999999 0.999998 0 - 7 60 256 0 0 17.105885 123 60 4024 197 ENST00000261776.5 0.053846 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 70835099 70835099 __UNKNOWN__ IGR SNP G G A rs8054131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70835099G>A NA NA VAC14 (35 upstream) : RP11-424M24.5 (886 downstream) NA NA NA CGTCGCGAGGGCCCGCCCCTC 0.672 NA A||| 3466 0.692093 0.8321 0.6052 5008 , , NA 15673 0.5496 NA 0.7366 False NA ,,, NA NA NA 2504 0.6656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.70835099G>A NA hg19 0.02 4.439955 AGGxCCC COVERED NOVEL 0 0 18.382958 KEEP 0 1 5 63 2136 GG 1 0.999991 0 6 60 211 0 0 13.937922 101 60 3329 247 0.056075 0.999991 HYDIN 54768 __UNKNOWN__ __UNKNOWN__ 16 70917705 70917705 __UNKNOWN__ Intron SNP C C T rs11075804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:70917705C>T ENST00000393567.2 - 59 10130 NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein NA NA cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) aactcctgaccttaggtgatc 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 19368 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 31 610812 hydrocephalus inducing, hydrocephalus inducing homolog (mouse) NA 12719380, 23022101 Standard NM_001198542 NA Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.9979+117G>A chr16.hg19:g.70917705C>T NA A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 hg19 CCDS59269.1 0.02 2.440021 GACxTTA COVERED NOVEL HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398624.3 0 2.708693 KEEP 0 0 0 9 306 CC 0.99254 0.956584 0 - 24 60 900 0 0 86.136327 27 60 966 64 ENST00000393567.2 0.470588 0.963774 HYDIN 54768 __UNKNOWN__ __UNKNOWN__ 16 71100712 71100712 __UNKNOWN__ Intron SNP G G A rs199932690 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71100712G>A ENST00000393567.2 - 15 2226 HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000288168.10_3'UTR|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000448089.2_Intron NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein NA NA cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CTCATCTTGGGGGCCCACTCC 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 19368 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 31 610812 hydrocephalus inducing, hydrocephalus inducing homolog (mouse) NA 12719380, 23022101 Standard NM_001198542 NA Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.2075+480C>T chr16.hg19:g.71100712G>A NA A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 hg19 CCDS59269.1 0.02 20.657907 TGGxGGC COVERED NOVEL HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398624.3 4 22.264534 KEEP 0 0 0 74 2572 GG 1 1 0 - 15 60 516 0 0 29.103138 524 60 19005 752 ENST00000393567.2 0.027829 1 HYDIN 54768 __UNKNOWN__ __UNKNOWN__ 16 71100838 71100838 __UNKNOWN__ Intron SNP T T C rs62039227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71100838T>C ENST00000393567.2 - 15 2226 HYDIN_ENST00000393550.2_Splice_Site|HYDIN_ENST00000541601.1_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000288168.10_3'UTR|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000448089.2_Intron NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein NA NA cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591) cell projection (GO:0042995) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCTGGAGCACTATGTTGAAAG 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074472 CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1 16q22.2 2014-02-05 2012-01-06 ENSG00000157423 ENSG00000157423 54768 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 19368 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 31 610812 hydrocephalus inducing, hydrocephalus inducing homolog (mouse) NA 12719380, 23022101 Standard NM_001198542 NA Approved DKFZp434D0513, KIAA1864, PPP1R31, CILD5 uc031qwy.1 Q4G0P3 OTTHUMG00000137584 ENST00000393567.2:c.2075+354A>G chr16.hg19:g.71100838T>C NA A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5 hg19 CCDS59269.1 0.02 24.629632 CACxATG COVERED 607 0.27793040293040294 67 0.13617886178861788 109 0.3011049723756906 104 0.18181818181818182 327 0.4313984168865435 T 5.595 0.294521 0.10567 . . ENSG00000157423 ENST00000542890;ENST00000393550 . . . 4.06 1.6 0.23607 . . . . . . . . . . . 0.52099 P 5.999999999994898E-5 . . . . . . . . . . . . . . 2.5993 0.04862 0.2301:0.1292:0.0:0.6407 rs62039227 . . . . -1 . . . - . . HYDIN 69658339 0.000000 0.05858 0.001000 0.08648 0.019000 0.09904 0.010000 0.13242 0.745000 0.32763 0.487000 0.48397 . NOVEL HYDIN-001 PUTATIVE not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000398624.3 5 19.392153 KEEP 0 1 33 76 2426 TT 1 1 0 - 14 60 535 0 0 31.730972 549 60 19992 795 ENST00000393567.2 0.024867 1 CMTR2 55783 __UNKNOWN__ __UNKNOWN__ 16 71319539 71319539 __UNKNOWN__ Silent SNP C C T rs3826247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71319539C>T ENST00000338099.5 - 3 621 c.285G>A c.(283-285)gcG>gcA p.A95A CMTR2_ENST00000434935.2_Silent_p.A95A Q8IYT2 CMTR2_HUMAN cap methyltransferase 2 95 NA 7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483) NA TGATTTTCCCCGCTTTATTAG 0.373 NA T||| 2314 0.462061 0.3714 0.6628 5008 , , NA 20347 0.245 NA 0.675 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 T , 1766,2630 640.0+/-397.2 352,1062,784 102 97 99 285,285 0.6 1 16 dbSNP_107 99 5609,2991 461.7+/-365.5 1836,1937,527 no coding-synonymous,coding-synonymous FTSJD1 NM_001099642.1,NM_018348.5 , 2188,2999,1311 TT,TC,CC 34.7791,40.1729,43.2518 , 95/771,95/771 71319539 7375,5621 2198 4300 6498 SO:0001819 synonymous_variant BC035005 CCDS10898.1 16q22.2 2013-07-23 2013-07-23 2013-07-23 ENSG00000180917 ENSG00000180917 55783 25635 protein-coding gene gene with protein product adrift homolog (Drosophila) FtsJ methyltransferase domain containing 1 FTSJD1 NA 21310715 Standard NM_018348 NM_018348 NA Approved FLJ11171, AFT, MTr2 uc010cga.3 Q8IYT2 OTTHUMG00000137587 ENST00000338099.5:c.285G>A chr16.hg19:g.71319539C>T NA B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5 hg19 CCDS10898.1 0.02 13.911769 CCCxGCT COVERED NOVEL CMTR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268984.2 1 20.762783 KEEP 0 0 0 69 2338 CC 1 1 0 - 11 60 420 0 0 26.448638 310 60 10696 475 ENST00000338099.5 0.034268 1 MARVELD3 91862 __UNKNOWN__ __UNKNOWN__ 16 71668634 71668634 __UNKNOWN__ Intron SNP T T G rs12932850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71668634T>G ENST00000299952.4 + 2 638 MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000268485.3_Silent_p.A378A NM_001017967.3|NM_001271329.1 NP_001017967.2|NP_001258258.1 Q96A59 MALD3_HUMAN MARVEL domain containing 3 NA NA cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830) cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923) NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CCCTGGGGGCTGTCCTGGCCA 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 T , 1168,3228 411.3+/-335.7 169,830,1199 60 60 60 ,1134 -5 0.6 16 dbSNP_121 60 2905,5695 456.0+/-363.9 494,1917,1889 no intron,coding-synonymous MARVELD3 NM_001017967.2,NM_052858.3 , 663,2747,3088 GG,GT,TT 33.7791,26.5696,31.3404 , ,378/402 71668634 4073,8923 2198 4300 6498 SO:0001627 intron_variant BC013376 CCDS10904.1, CCDS32478.1, CCDS59270.1 16q22.2 2008-02-05 2004-07-12 2004-07-14 ENSG00000140832 ENSG00000140832 91862 30525 protein-coding gene gene with protein product 614094 MARVEL (membrane-associating) domain containing 3 MRVLDC3 NA Standard NM_052858 NM_001017967 NA Approved uc002fat.4 Q96A59 OTTHUMG00000137591 ENST00000299952.4:c.595+5237T>G chr16.hg19:g.71668634T>G NA A8K820|H3BQM5|Q96MJ4 hg19 CCDS32478.1 0.02 11.286928 GGCxGTC COVERED NOVEL MARVELD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268990.1 0 14.442516 KEEP 0 0 0 48 1492 TT 1 1 0 + 14 60 449 0 0 26.815758 322 60 11781 442 ENST00000299952.4 0.041667 1 MARVELD3 91862 __UNKNOWN__ __UNKNOWN__ 16 71674882 71674882 __UNKNOWN__ Silent SNP C C G rs2303225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71674882C>G ENST00000299952.4 + 3 1228 c.1185C>G c.(1183-1185)ccC>ccG p.P395P PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron NM_001017967.3|NM_001271329.1 NP_001017967.2|NP_001258258.1 Q96A59 MALD3_HUMAN MARVEL domain containing 3 0 NA cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830) cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923) NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GAGAACAGCCCGGAAGTTACA 0.517 NA C||| 2021 0.403554 0.2549 0.5274 5008 , , NA 20414 0.6835 NA 0.325 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 C 1174,3222 167,840,1191 50 42 45 1185 1.4 0 16 dbSNP_100 45 2866,5734 483,1900,1917 no coding-synonymous MARVELD3 NM_001017967.2 650,2740,3108 GG,GC,CC 33.3256,26.7061,31.0865 395/411 71674882 4040,8956 2198 4300 6498 SO:0001819 synonymous_variant BC013376 CCDS10904.1, CCDS32478.1, CCDS59270.1 16q22.2 2008-02-05 2004-07-12 2004-07-14 ENSG00000140832 ENSG00000140832 91862 30525 protein-coding gene gene with protein product 614094 MARVEL (membrane-associating) domain containing 3 MRVLDC3 NA Standard NM_052858 NM_001017967 NA Approved uc002fat.4 Q96A59 OTTHUMG00000137591 ENST00000299952.4:c.1185C>G chr16.hg19:g.71674882C>G NA A8K820|H3BQM5|Q96MJ4 hg19 CCDS32478.1 0.02 29.408389 GCCxGGA COVERED 917 0.4198717948717949 133 0.2703252032520325 166 0.4585635359116022 380 0.6643356643356644 238 0.31398416886543534 C 13.55 2.270000 0.40194 0.267061 0.333256 ENSG00000040199 ENST00000299971 . . . 5.67 1.4 0.22301 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.44757 -0.9307 4 0.46703 T 0.11 -14.0177 9.1148 0.36750 0.0:0.4539:0.4643:0.0818 rs2303225;rs2303225 . . . P 767 . ENSP00000299971:R767P R - 2 0 PHLPP2 70232383 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 0.022000 0.13511 0.041000 0.15688 0.655000 0.94253 CGG NOVEL MARVELD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268990.1 3 25.880155 KEEP 0 0 0 86 2893 CC 1 1 0 + 19 60 689 0 0 39.978697 691 60 24572 952 ENST00000299952.4 0.026761 1 AP1G1 164 __UNKNOWN__ __UNKNOWN__ 16 71768500 71768500 __UNKNOWN__ Intron SNP T T C rs2278031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71768500T>C ENST00000299980.4 - 22 2809 AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000423132.2_Intron|AP1G1_ENST00000564155.1_Intron NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588) GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215) breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TGGCTACAAATGTGCTACTCA 0.418 NA T||| 2118 0.422923 0.267 0.5274 5008 , , NA 19533 0.7609 NA 0.3241 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 T , 1246,3150 428.3+/-341.8 180,886,1132 251 254 253 , 2.1 0.9 16 dbSNP_100 253 2925,5675 458.2+/-364.5 500,1925,1875 no intron,intron AP1G1 NM_001030007.1,NM_001128.5 , 680,2811,3007 CC,CT,TT 34.0116,28.3439,32.0945 , , 71768500 4171,8825 2198 4300 6498 SO:0001627 intron_variant Y12226 CCDS32480.1, CCDS45522.1 16q23 2009-08-03 ENSG00000166747 164 555 protein-coding gene gene with protein product gamma1-adaptin 603533 CLAPG1, ADTG NA 9653655, 9733768 Standard NM_001128 NA Approved uc010cgg.3 O43747 ENST00000299980.4:c.2367+11A>G chr16.hg19:g.71768500T>C NA O75709|O75842|Q9UG09|Q9Y3U4 hg19 CCDS32480.1 0.02 10.369054 AAAxGTG COVERED NOVEL AP1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434147.1 0 12.632092 KEEP 0 0 0 42 1300 TT 1 1 0 - 11 60 375 0 0 23.00324 248 60 9248 374 ENST00000299980.4 0.042471 1 AP1G1 164 __UNKNOWN__ __UNKNOWN__ 16 71780485 71780485 __UNKNOWN__ Intron SNP G G A rs2270832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71780485G>A ENST00000299980.4 - 17 2172 AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000423132.2_Intron|AP1G1_ENST00000564155.1_Intron NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588) GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215) breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) AGTTTCTTTCGCTCACCTCAT 0.388 NA G||| 2114 0.422125 0.264 0.5259 5008 , , NA 16780 0.7609 NA 0.3231 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 G , 1220,3176 422.5+/-339.8 178,864,1156 156 125 136 , 1.9 0 16 dbSNP_100 136 2916,5684 457.1+/-364.2 498,1920,1882 no intron,intron AP1G1 NM_001030007.1,NM_001128.5 , 676,2784,3038 AA,AG,GG 33.907,27.7525,31.8252 , , 71780485 4136,8860 2198 4300 6498 SO:0001627 intron_variant Y12226 CCDS32480.1, CCDS45522.1 16q23 2009-08-03 ENSG00000166747 164 555 protein-coding gene gene with protein product gamma1-adaptin 603533 CLAPG1, ADTG NA 9653655, 9733768 Standard NM_001128 NA Approved uc010cgg.3 O43747 ENST00000299980.4:c.1730+5C>T chr16.hg19:g.71780485G>A NA O75709|O75842|Q9UG09|Q9Y3U4 hg19 CCDS32480.1 0.02 10.638475 TTCxCTC COVERED NOVEL AP1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434147.1 1 12.039031 KEEP 0 0 0 40 1400 GG 1 1 0 - 12 60 437 0 0 28.503072 239 60 8325 354 ENST00000299980.4 0.047809 1 AP1G1 164 __UNKNOWN__ __UNKNOWN__ 16 71780599 71780599 __UNKNOWN__ Intron SNP T T C rs2270831 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:71780599T>C ENST00000299980.4 - 17 2067 AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000433195.2_Intron|AP1G1_ENST00000423132.2_Intron|AP1G1_ENST00000564155.1_5'UTR NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588) GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215) breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) AATTCGGCTATAGATAAAATG 0.328 NA T||| 2117 0.422724 0.2655 0.5259 5008 , , NA 17080 0.7609 NA 0.3241 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 T , 1233,3163 424.2+/-340.4 179,875,1144 86 81 83 , -6.2 0 16 dbSNP_100 83 2920,5680 457.4+/-364.3 499,1922,1879 no intron,intron AP1G1 NM_001030007.1,NM_001128.5 , 678,2797,3023 CC,CT,TT 33.9535,28.0482,31.956 , , 71780599 4153,8843 2198 4300 6498 SO:0001627 intron_variant Y12226 CCDS32480.1, CCDS45522.1 16q23 2009-08-03 ENSG00000166747 164 555 protein-coding gene gene with protein product gamma1-adaptin 603533 CLAPG1, ADTG NA 9653655, 9733768 Standard NM_001128 NA Approved uc010cgg.3 O43747 ENST00000299980.4:c.1626-4A>G chr16.hg19:g.71780599T>C NA O75709|O75842|Q9UG09|Q9Y3U4 hg19 CCDS32480.1 0.02 9.708324 CTAxAGA COVERED NOVEL AP1G1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434147.1 2 9.328313 KEEP 0 0 0 31 988 TT 0.999997 0.999997 0 - 10 60 385 0 0 25.817367 200 60 7192 284 ENST00000299980.4 0.047619 1 PKD1L3 342372 __UNKNOWN__ __UNKNOWN__ 16 72020134 72020134 __UNKNOWN__ RNA SNP T T C rs12708923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:72020134T>C ENST00000534738.1 - 0 819 Q7Z443 PK1L3_HUMAN polycystic kidney disease 1-like 3 NA NA cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246) autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2) 22 CCAGATGCCTTCTGCAATGAC 0.468 NA T||| 2570 0.513179 0.6808 0.4107 5008 , , NA 21655 0.4534 NA 0.508 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 T GLU/LYS 935,449 312,311,69 152 119 129 820 3.4 0 16 dbSNP_121 129 1668,1514 436,796,359 yes missense PKD1L3 NM_181536.1 56 748,1107,428 CC,CT,TT 47.5801,32.4422,42.9917 benign 274/1733 72020134 2603,1963 692 1591 2283 AY164485 CCDS73912.1 16q22.2 2008-02-05 ENSG00000277481 342372 21716 protein-coding gene gene with protein product 607895 NA 12782129 Standard NM_181536 NM_181536 NA Approved uc010vmm.2 Q7Z443 ENST00000534738.1: chr16.hg19:g.72020134T>C NA hg19 0.02 8.669005 CCTxCTG COVERED NOVEL PKD1L3-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000387876.1 2 9.629266 KEEP 0 0 0 32 1023 TT 0.999997 0.999997 0 - 9 60 334 0 0 21.271796 217 60 7916 311 ENST00000534738.1 0.039823 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 72088431 72088431 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:72088431G>T NA NA DHODH (29477 upstream) : HP (59 downstream) NA NA NA CCTTACCAGGGCCAAAGTTTG 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.72088431G>T NA hg19 0.02 3.786107 AGGxCCA COVERED NOVEL 0 2 5.115047 KEEP 1 0 0 17 582 GG 0.999366 0.999362 0 6 40 207 0 0 13.383601 107 60 3818 145 0.053097 0.999995 HPR 3250 __UNKNOWN__ __UNKNOWN__ 16 72097225 72097225 __UNKNOWN__ Intron SNP T T C rs12918905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:72097225T>C ENST00000540303.2 + 1 37 HPR_ENST00000356967.5_Intron|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein NA NA blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366) hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) TTGCATACATTGGTACAGATG 0.428 NA T||| 1588 0.317093 0.3585 0.2406 5008 , , NA 20925 0.2589 NA 0.2714 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 208 125 150 NA NA 16 NA 72097225 681 1567 2248 SO:0001627 intron_variant BC160066 CCDS42193.1 16q22.2 2012-10-03 ENSG00000261701 ENSG00000261701 3250 5156 protein-coding gene gene with protein product 140210 NA 2987228, 16778136 Standard NM_020995 NM_020995 NA Approved uc002fby.3 P00739 OTTHUMG00000173010 ENST00000540303.2:c.5+66T>C chr16.hg19:g.72097225T>C NA Q7LE20|Q92658|Q92659|Q9ULB0 hg19 CCDS42193.1 0.02 4.375815 CATxGGT COVERED NOVEL HPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421696.1 0 7.221508 KEEP 1 0 0 24 752 TT 0.999909 0.999905 0 + 10 40 333 0 0 23.362001 104 60 3867 170 ENST00000540303.2 0.087719 0.999996 HPR 3250 __UNKNOWN__ __UNKNOWN__ 16 72097230 72097230 __UNKNOWN__ Intron SNP C C G rs12917768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:72097230C>G ENST00000540303.2 + 1 37 HPR_ENST00000356967.5_Intron|HPR_ENST00000561690.1_Intron NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein NA NA blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366) hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) TACATTGGTACAGATGCAGAA 0.418 NA A||| 1570 0.313498 0.3548 0.2363 5008 , , NA 20586 0.2579 NA 0.2704 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 241 133 164 NA NA 16 NA 72097230 554 1390 1944 SO:0001627 intron_variant BC160066 CCDS42193.1 16q22.2 2012-10-03 ENSG00000261701 ENSG00000261701 3250 5156 protein-coding gene gene with protein product 140210 NA 2987228, 16778136 Standard NM_020995 NM_020995 NA Approved uc002fby.3 P00739 OTTHUMG00000173010 ENST00000540303.2:c.5+71C>G chr16.hg19:g.72097230C>G NA Q7LE20|Q92658|Q92659|Q9ULB0 hg19 CCDS42193.1 0.02 4.463159 GTAxAGA COVERED NOVEL HPR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421696.1 0 6.621935 KEEP 0 0 0 22 809 CC 0.999879 0.99986 0 + 6 40 219 0 0 14.803611 98 60 3772 152 ENST00000540303.2 0.057692 0.999981 NPIPB15 440348 __UNKNOWN__ __UNKNOWN__ 16 74425826 74425826 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:74425826G>A ENST00000429990.1 + 7 1276 c.1180G>A c.(1180-1182)Gca>Aca p.A394T A6NHN6 NPB15_HUMAN nuclear pore complex interacting protein family, member B15 394 NA extracellular region (GO:0005576) p.A394T(2)|p.A333T(2) NA ggaggccgaggcacaacaatt 0.552 NA NA NA NA NA NA NA NA NA NA NA 4 Substitution - Missense(4) endometrium(2)|kidney(2) 5 7 7 NA NA 16 NA 74425826 1730 3815 5545 SO:0001583 missense BC160029 16q22.3 2013-06-11 2013-06-11 2013-06-11 ENSG00000196436 ENSG00000196436 440348 34409 protein-coding gene gene with protein product nuclear pore complex interacting protein-like 2 NPIPL2 NA Standard NM_001018059 XM_005256273 NA Approved LOC440348 uc010vmt.1 A6NHN6 OTTHUMG00000156916 ENST00000429990.1:c.1180G>A chr16.hg19:g.74425826G>A ENSP00000411140:p.Ala394Thr NA C9J9U8 hg19 0.02 -0.438329 GAGxCAC COVERED . . . . . . . . . . g 6.091 0.385122 0.11524 . . ENSG00000196436 ENST00000504746;ENST00000429990 T 0.47869 0.83 . . . . . . . . T 0.22551 0.0544 N 0.08118 0 0.19300 N 0.999978 B 0.06786 0.001 B 0.04013 0.001 T 0.18147 -1.0346 7 0.27082 T 0.32 . . . . . 333 A6NHN6 NPPL2_HUMAN T 258;394 ENSP00000411140:A394T ENSP00000411140:A394T A + 1 0 NPIPL2 72983327 . . 0.000000 0.03702 0.000000 0.00434 . . 0.000000 0.14550 0.000000 0.15137 GCA NOVEL NPIPB15-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000346597.2 1 3.912354 KEEP 23 0 0 13 453 GG 0.99257 0.952727 0 + 5 40 186 0 0 13.97558 44 51 1630 102 ENST00000429990.1 0.102041 0.959859 CLEC18B 497190 __UNKNOWN__ __UNKNOWN__ 16 74443550 74443550 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:74443550G>T ENST00000339953.5 - 12 1360 NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B NA NA extracellular region (GO:0005576) carbohydrate binding (GO:0030246) endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTGCAGGCCAGGGTGTGGTGG 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 197 171 180 NA NA 16 NA 74443550 2197 4298 6495 SO:0001627 intron_variant AY358373 CCDS32484.1 16q22.3 2010-04-27 2009-03-10 2009-03-10 ENSG00000140839 497190 C-type lectin domain containing 33849 protein-coding gene gene with protein product NA Standard NM_001011880 NM_001011880 NA Approved uc002fct.3 Q6UXF7 ENST00000339953.5:c.1239-11C>A chr16.hg19:g.74443550G>T NA B4DF90 hg19 CCDS32484.1 0.02 12.38425 CCAxGGT COVERED NOVEL CLEC18B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434697.1 1 9.871626 KEEP 20 4 120 75 2757 GG 1 1 0 - 10 25 358 0 0 20.904814 337 52 12924 576 ENST00000339953.5 0.028818 1 GLG1 2734 __UNKNOWN__ __UNKNOWN__ 16 74501856 74501856 __UNKNOWN__ Intron SNP C C G rs6564117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:74501856C>G ENST00000447066.2 - 17 2421 GLG1_ENST00000205061.5_Intron|GLG1_ENST00000422840.2_Intron NM_001145666.1 NP_001139138.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 NA NA blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330) extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CTGGCTTCTACATAGCAAAGT 0.458 NA C||| 3660 0.730831 0.7133 0.6902 5008 , , NA 18848 0.8304 NA 0.6451 False NA ,,, NA NA NA 2504 0.7689 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32485.1, CCDS45526.1, CCDS45527.1 16q22-q23 2010-02-12 2010-02-12 ENSG00000090863 2734 4316 protein-coding gene gene with protein product 600753 golgi apparatus protein 1 NA 8530051, 7531823 Standard NM_012201 NM_012201 NA Approved MG-160, ESL-1, CFR-1 uc002fcx.3 Q92896 ENST00000447066.2:c.2404-110G>C chr16.hg19:g.74501856C>G NA B7Z8Y4|D3DUJ7|Q13221|Q6P9D1 hg19 CCDS45526.1 0.02 1.836742 CTAxATA COVERED NOVEL GLG1-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000435751.1 0 3.310903 KEEP 0 0 0 11 396 CC 0.993072 0.993012 0 - 5 60 186 0 0 12.434541 92 60 3533 117 ENST00000447066.2 0.051546 0.99994 RFWD3 55159 __UNKNOWN__ __UNKNOWN__ 16 74664743 74664743 __UNKNOWN__ Missense_Mutation SNP T T C rs7193541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:74664743T>C ENST00000361070.4 - 10 1787 c.1690A>G c.(1690-1692)Att>Gtt p.I564V RFWD3_ENST00000571750.1_Missense_Mutation_p.I564V NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 564 NA I -> V (in dbSNP:rs7193541). {ECO:0000269|Ref.3}. DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) p.I564V(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TATACCAGAATTGAACCATTG 0.502 NA T||| 1967 0.392772 0.5166 0.2896 5008 , , NA 18495 0.4613 NA 0.3936 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T VAL/ILE 2240,2156 594.3+/-388.2 576,1088,534 118 94 102 1690 3.4 0.5 16 dbSNP_116 102 3637,4963 524.0+/-380.4 770,2097,1433 yes missense RFWD3 NM_018124.3 29 1346,3185,1967 CC,CT,TT 42.2907,49.0446,45.2216 benign 564/775 74664743 5877,7119 2198 4300 6498 SO:0001583 missense AK001382 CCDS32486.1 16q22.3 2013-01-09 55159 WD repeat domain containing, RING-type (C3HC4) zinc fingers 25539 protein-coding gene gene with protein product 614151 NA 21504906 Standard NM_018124 XM_005256021 NA Approved FLJ10520, RNF201 uc002fda.3 Q6PCD5 ENST00000361070.4:c.1690A>G chr16.hg19:g.74664743T>C ENSP00000354361:p.Ile564Val NA A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4 hg19 CCDS32486.1 0.02 3.982802 GAAxTGA COVERED 913 0.41804029304029305 260 0.5284552845528455 115 0.31767955801104975 245 0.42832167832167833 293 0.3865435356200528 T 9.100 1.003950 0.19199 0.509554 0.422907 ENSG00000168411 ENST00000361070 T 0.29917 1.55 5.74 3.41 0.39046 WD40/YVTN repeat-like-containing domain (1); 0.184587 0.49305 N 0.000144 T 0.00012 0.0000 N 0.11651 0.15 0.28633 P 0.9075455 B 0.13594 0.008 B 0.10450 0.005 T 0.45086 -0.9285 9 0.09843 T 0.71 -14.7735 7.6779 0.28497 0.0:0.3227:0.0:0.6773 rs7193541;rs56472058;rs58059142;rs7193541 564 Q6PCD5 RFWD3_HUMAN V 564 ENSP00000354361:I564V ENSP00000354361:I564V I - 1 0 RFWD3 73222244 0.890000 0.30428 0.485000 0.27403 0.855000 0.48748 1.552000 0.36244 0.941000 0.37499 0.533000 0.62120 ATT NOVEL RFWD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436506.2 1 5.951797 KEEP 0 1 38 33 1026 TT 0.999998 0.999998 0 - 5 60 189 0 0 11.98468 131 60 4842 201 ENST00000361070.4 0.036765 1 RFWD3 55159 __UNKNOWN__ __UNKNOWN__ 16 74664810 74664810 __UNKNOWN__ Silent SNP A A T rs7188880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:74664810A>T ENST00000361070.4 - 10 1720 c.1623T>A c.(1621-1623)ccT>ccA p.P541P RFWD3_ENST00000571750.1_Silent_p.P541P NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 541 NA DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 AGCTCCAGACAGGACGTCCAG 0.443 NA A||| 3302 0.659345 0.8116 0.4323 5008 , , NA 19403 0.7897 NA 0.493 False NA ,,, NA NA NA 2504 0.6513 NA NA NA NA 0 A 3319,1077 722.4+/-409.3 1241,837,120 108 96 100 1623 4.4 1 16 dbSNP_116 100 4455,4145 589.0+/-392.5 1161,2133,1006 no coding-synonymous RFWD3 NM_018124.3 2402,2970,1126 TT,TA,AA 48.1977,24.4995,40.1816 541/775 74664810 7774,5222 2198 4300 6498 SO:0001819 synonymous_variant AK001382 CCDS32486.1 16q22.3 2013-01-09 55159 WD repeat domain containing, RING-type (C3HC4) zinc fingers 25539 protein-coding gene gene with protein product 614151 NA 21504906 Standard NM_018124 XM_005256021 NA Approved FLJ10520, RNF201 uc002fda.3 Q6PCD5 ENST00000361070.4:c.1623T>A chr16.hg19:g.74664810A>T NA A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4 hg19 CCDS32486.1 0.02 7.029333 GACxGGA COVERED NOVEL RFWD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436506.2 1 7.153844 KEEP 0 1 29 34 1043 AA 0.999999 0.999999 0 - 7 60 256 0 0 16.619692 145 60 5485 235 ENST00000361070.4 0.046053 1 ZNRF1 84937 __UNKNOWN__ __UNKNOWN__ 16 75034214 75034214 __UNKNOWN__ Intron SNP C C A rs34462287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75034214C>A ENST00000320619.6 + 1 1059 ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000335325.4_Intron|ZNRF1_ENST00000567962.1_Intron|ZNRF1_ENST00000566250.1_Intron Q8ND25 ZNRF1_HUMAN zinc and ring finger 1, E3 ubiquitin protein ligase NA NA proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(1) 1 GGCGTGTGTTCACTTGTGGAA 0.547 NA C||| 1413 0.282149 0.0983 0.4236 5008 , , NA 19501 0.1696 NA 0.5457 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF378524 CCDS10912.1 16q22.3 2013-01-09 2012-02-23 ENSG00000186187 ENSG00000186187 84937 RING-type (C3HC4) zinc fingers 18452 protein-coding gene gene with protein product 612060 zinc and ring finger 1 NA Standard NM_032268 NA Approved nin283, FLJ14846, DKFZp434E229 uc002fdl.1 Q8ND25 OTTHUMG00000137606 ENST00000320619.6:c.424+221C>A chr16.hg19:g.75034214C>A NA D3DUJ9|Q9H083 hg19 0.02 16.87419 GTTxACT COVERED NOVEL ZNRF1-001 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000269019.2 2 46.945162 KEEP 0 4 99 191 6819 CC 1 1 0 + 15 60 548 1 0 33.444382 433 60 16349 850 ENST00000320619.6 0.033482 1 LDHD 197257 __UNKNOWN__ __UNKNOWN__ 16 75148604 75148604 __UNKNOWN__ Intron SNP G G A rs755099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75148604G>A ENST00000450168.2 - 5 520 LDHD_ENST00000300051.4_Intron NM_194436.2 NP_919417.1 lactate dehydrogenase D NA NA endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 16 GCGTACAGAAGGCAGCCTCAG 0.711 NA G||| 1984 0.396166 0.2519 0.5072 5008 , , NA 14543 0.1776 NA 0.7276 False NA ,,, NA NA NA 2504 0.3967 NA NA NA NA 0 G , 1611,2733 345,921,906 11 14 13 , 1.9 0 16 dbSNP_86 13 6361,2169 2439,1483,343 no intron,intron LDHD NM_153486.3,NM_194436.2 , 2784,2404,1249 AA,AG,GG 25.4279,37.0856,38.0767 , , 75148604 7972,4902 2172 4265 6437 SO:0001627 intron_variant AY092767 CCDS10913.1, CCDS45529.1 16q22.3 2011-01-27 ENSG00000166816 ENSG00000166816 197257 19708 protein-coding gene gene with protein product 607490 NA 12127981 Standard NM_153486 NM_153486 NA Approved uc002fdm.3 Q86WU2 OTTHUMG00000137605 ENST00000450168.2:c.470-21C>T chr16.hg19:g.75148604G>A NA hg19 CCDS45529.1 0.02 7.332466 GAAxGCA COVERED NOVEL LDHD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434651.1 2 15.257559 KEEP 0 6 186 116 4138 GG 1 1 0 - 8 60 307 0 0 20.660705 155 60 5812 369 ENST00000450168.2 0.04908 1 CFDP1 10428 __UNKNOWN__ __UNKNOWN__ 16 75445675 75445675 __UNKNOWN__ Intron SNP G G A rs1109342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75445675G>A ENST00000283882.3 - 4 663 CFDP1_ENST00000564286.1_Intron NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 NA NA cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 AGAGAGAGACGCTCATTTTTG 0.343 NA G||| 2491 0.497404 0.3139 0.6729 5008 , , NA 17308 0.5456 NA 0.5726 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 G 1482,2914 468.1+/-355.0 264,954,980 65 61 62 -3.9 0 16 dbSNP_86 62 5087,3511 628.7+/-398.1 1468,2151,680 no intron CFDP1 NM_006324.2 1732,3105,1660 AA,AG,GG 40.8351,33.7125,49.4459 75445675 6569,6425 2198 4299 6497 SO:0001627 intron_variant AB009285 CCDS10916.1 16q22.2-q22.3 2011-08-12 ENSG00000153774 ENSG00000153774 10428 1873 protein-coding gene gene with protein product Bucentaur, centromere protein 29 608108 NA 9602175, 9006920, 11992732 Standard NM_006324 NM_006324 NA Approved BCNT, p97, CP27, SWC5, Yeti, CENP-29 uc002fdy.3 Q9UEE9 OTTHUMG00000137615 ENST00000283882.3:c.530+47C>T chr16.hg19:g.75445675G>A NA O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8 hg19 CCDS10916.1 0.02 4.08512 GACxCTC COVERED NOVEL CFDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269031.2 1 9.630972 KEEP 0 0 0 32 1107 GG 0.999997 0.999993 0 - 5 60 182 0 0 11.696513 108 60 3641 178 ENST00000283882.3 0.044248 0.999995 TMEM170A 124491 __UNKNOWN__ __UNKNOWN__ 16 75477714 75477714 __UNKNOWN__ 3'UTR SNP T T C rs37586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75477714T>C ENST00000357613.4 - 0 4196 RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron Q8WVE7 T170A_HUMAN transmembrane protein 170A NA NA integral component of membrane (GO:0016021) endometrium(1) 1 Aggccaagcatgatggctcat 0.443 NA C||| 4384 0.875399 0.7148 0.9409 5008 , , NA 17634 1.0 NA 0.9145 False NA ,,, NA NA NA 2504 0.8773 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648484 CCDS10917.1 16q23.1 2008-06-10 2008-06-10 2008-06-10 ENSG00000166822 ENSG00000166822 124491 29577 protein-coding gene gene with protein product transmembrane protein 170 TMEM170 NA 12477932 Standard NM_145254 NM_145254 NA Approved FLJ37611 uc002fee.1 Q8WVE7 OTTHUMG00000137614 ENST00000357613.4:c.*3742A>G chr16.hg19:g.75477714T>C NA B2R4R3|B4DPS4|D3DUK2|Q7Z6F3 hg19 0.02 4.059546 GCAxGAT COVERED NOVEL TMEM170A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000435190.1 4 3.681362 KEEP 0 2 68 36 1145 TT 1 0.999997 0 - 6 60 182 0 0 11.029344 110 60 3987 189 ENST00000357613.4 0.051724 0.999997 TMEM170A 124491 __UNKNOWN__ __UNKNOWN__ 16 75479153 75479153 __UNKNOWN__ 3'UTR SNP T T C rs2161684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75479153T>C ENST00000357613.4 - 0 2757 RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron Q8WVE7 T170A_HUMAN transmembrane protein 170A NA NA integral component of membrane (GO:0016021) endometrium(1) 1 ACAACTCTACTTATAAGTTTC 0.313 NA T||| 2529 0.504992 0.3419 0.6758 5008 , , NA 19808 0.5585 NA 0.5696 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648484 CCDS10917.1 16q23.1 2008-06-10 2008-06-10 2008-06-10 ENSG00000166822 ENSG00000166822 124491 29577 protein-coding gene gene with protein product transmembrane protein 170 TMEM170 NA 12477932 Standard NM_145254 NM_145254 NA Approved FLJ37611 uc002fee.1 Q8WVE7 OTTHUMG00000137614 ENST00000357613.4:c.*2303A>G chr16.hg19:g.75479153T>C NA B2R4R3|B4DPS4|D3DUK2|Q7Z6F3 hg19 0.02 6.478737 TACxTAT COVERED NOVEL TMEM170A-002 KNOWN basic protein_coding NA protein_coding OTTHUMT00000435190.1 3 7.859753 KEEP 0 1 34 38 1242 TT 1 1 0 - 6 60 229 0 0 14.171489 186 60 6837 296 ENST00000357613.4 0.03125 1 TMEM170A 124491 __UNKNOWN__ __UNKNOWN__ 16 75481215 75481215 __UNKNOWN__ 3'UTR SNP C C T rs451589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75481215C>T ENST00000569540.1 - 0 727 TMEM170A_ENST00000566980.1_3'UTR|TMEM170A_ENST00000357613.4_3'UTR|TMEM170A_ENST00000567796.1_3'UTR|TMEM170A_ENST00000561878.1_3'UTR|RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron Q8WVE7 T170A_HUMAN transmembrane protein 170A NA NA integral component of membrane (GO:0016021) endometrium(1) 1 CTGCTTAAATCAAATATCTAC 0.378 NA T||| 4482 0.894968 0.7874 0.9467 5008 , , NA 18476 1.0 NA 0.9135 False NA ,,, NA NA NA 2504 0.8763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BX648484 CCDS10917.1 16q23.1 2008-06-10 2008-06-10 2008-06-10 ENSG00000166822 ENSG00000166822 124491 29577 protein-coding gene gene with protein product transmembrane protein 170 TMEM170 NA 12477932 Standard NM_145254 NM_145254 NA Approved FLJ37611 uc002fee.1 Q8WVE7 OTTHUMG00000137614 ENST00000569540.1:c.*241G>A chr16.hg19:g.75481215C>T NA B2R4R3|B4DPS4|D3DUK2|Q7Z6F3 hg19 0.02 3.959726 AATxAAA COVERED NOVEL TMEM170A-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000435192.1 2 9.064994 KEEP 0 1 34 42 1487 CC 1 1 0 - 7 60 250 0 0 16.060989 143 60 5542 234 ENST00000569540.1 0.046667 1 TMEM231 79583 __UNKNOWN__ __UNKNOWN__ 16 75574030 75574030 __UNKNOWN__ Silent SNP C C T rs2242406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75574030C>T ENST00000258173.6 - 7 889 c.813G>A c.(811-813)gtG>gtA p.V271V TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000568377.1_Silent_p.V300V|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Silent_p.V223V NM_001077418.1 NP_001070886.1 Q9H6L2 TM231_HUMAN transmembrane protein 231 271 NA cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224) ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGACATACTGCACCCAGGCGA 0.453 NA C||| 1353 0.270168 0.0068 0.3429 5008 , , NA 22674 0.7034 NA 0.0437 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 C ,, 86,3786 1,84,1851 64 58 60 900,813,465 3.3 1 16 dbSNP_98 60 444,7804 11,422,3691 no coding-synonymous,coding-synonymous,coding-synonymous TMEM231 NM_001077416.1,NM_001077418.1,NM_001077419.1 ,, 12,506,5542 TT,TC,CC 5.3831,2.2211,4.3729 ,, 300/346,271/317,155/201 75574030 530,11590 1936 4124 6060 SO:0001819 synonymous_variant CCDS45530.1 16q23.1 2014-01-28 ENSG00000205084 ENSG00000205084 79583 37234 protein-coding gene gene with protein product 614949 NA 23012439 Standard NM_001077416 NM_001077416 NA Approved FLJ22167, ALYE870, PRO1886, JBTS20, MKS11 uc002fek.4 Q9H6L2 ENST00000258173.6:c.813G>A chr16.hg19:g.75574030C>T NA A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5 hg19 CCDS45530.1 0.02 5.888851 CTGxACC COVERED NOVEL TMEM231-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435481.2 2 10.835436 KEEP 2 0 0 36 1292 CC 0.999998 0.999998 0 - 9 60 330 0 0 21.543258 182 60 6855 295 ENST00000258173.6 0.04712 1 TMEM231 79583 __UNKNOWN__ __UNKNOWN__ 16 75590092 75590092 __UNKNOWN__ Missense_Mutation SNP G G C rs3743601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75590092G>C ENST00000258173.6 - 1 92 c.16C>G c.(16-18)Ctc>Gtc p.L6V TMEM231_ENST00000568377.1_Missense_Mutation_p.S2R|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Missense_Mutation_p.L6V NM_001077418.1 NP_001070886.1 Q9H6L2 TM231_HUMAN transmembrane protein 231 6 NA L -> V (in dbSNP:rs3743601). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039}. cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224) ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038) endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGAGAGAAGAGCTCATAGAGC 0.672 NA G||| 1448 0.289137 0.093 0.3487 5008 , , NA 12521 0.6895 NA 0.0408 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 G ARG/SER,VAL/LEU, 301,3305 7,287,1509 5 6 6 6,16, 4.6 1 16 dbSNP_107 6 361,7429 7,347,3541 yes missense,missense,utr-5 TMEM231 NM_001077416.1,NM_001077418.1,NM_001077419.1 110,32, 14,634,5050 CC,CG,GG 4.6341,8.3472,5.8091 benign,benign, 2/346,6/317, 75590092 662,10734 1803 3895 5698 SO:0001583 missense CCDS45530.1 16q23.1 2014-01-28 ENSG00000205084 ENSG00000205084 79583 37234 protein-coding gene gene with protein product 614949 NA 23012439 Standard NM_001077416 NM_001077416 NA Approved FLJ22167, ALYE870, PRO1886, JBTS20, MKS11 uc002fek.4 Q9H6L2 ENST00000258173.6:c.16C>G chr16.hg19:g.75590092G>C ENSP00000258173:p.Leu6Val NA A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5 hg19 CCDS45530.1 0.02 6.763032 AGAxCTC COVERED 603|603 0.2760989010989011|0.2760989010989011 41|41 0.08333333333333333|0.08333333333333333 116|116 0.32044198895027626|0.32044198895027626 414|414 0.7237762237762237|0.7237762237762237 32|32 0.04221635883905013|0.04221635883905013 G|G 11.10|11.10 1.538088|1.538088 0.27475|0.27475 0.083472|0.083472 0.046341|0.046341 ENSG00000205084|ENSG00000205084 ENST00000258173|ENST00000398114 T|T 0.68331|0.80214 -0.32|-1.35 5.57|5.57 4.6|4.6 0.57074|0.57074 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.41050|0.41050 P|P 0.014707000000000026|0.014707000000000026 B|B 0.17268|0.06786 0.021|0.001 B|B 0.18561|0.08055 0.022|0.003 T|T 0.47005|0.47005 -0.9150|-0.9150 7|7 0.02654|0.87932 T|D 1|0 -12.1403|-12.1403 10.4856|10.4856 0.44719|0.44719 0.0:0.1452:0.7041:0.1507|0.0:0.1452:0.7041:0.1507 rs3743601;rs60507025;rs3743601|rs3743601;rs60507025;rs3743601 6|2 Q9H6L2|G5E9E3 TM231_HUMAN|. V|R 6|2 ENSP00000258173:L6V|ENSP00000381184:S2R ENSP00000258173:L6V|ENSP00000381184:S2R L|S -|- 1|3 0|2 TMEM231|TMEM231 74147593|74147593 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.765000|0.765000 0.43378|0.43378 4.179000|4.179000 0.58290|0.58290 1.446000|1.446000 0.47643|0.47643 0.655000|0.655000 0.94253|0.94253 CTC|AGC NOVEL TMEM231-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000435481.2 2 48.754594 KEEP 0 0 0 162 5706 GG 1 1 0 - 9 60 325 0 0 21.487725 162 60 5938 439 ENST00000258173.6 0.052632 1 KARS 3735 __UNKNOWN__ __UNKNOWN__ 16 75665019 75665019 __UNKNOWN__ Intron SNP A A G rs7189895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75665019A>G ENST00000319410.5 - 11 1544 KARS_ENST00000302445.3_Intron|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase NA NA cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032) aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049) kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) AGAGGGAACCATTCAGCACCA 0.507 NA G||| 3059 0.610823 0.7315 0.5519 5008 , , NA 18562 0.869 NA 0.3221 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 G , 2946,1450 448.8+/-348.8 1002,942,254 34 27 29 , -1.4 0 16 dbSNP_116 29 2637,5963 655.1+/-401.2 436,1765,2099 no intron,intron KARS NM_001130089.1,NM_005548.2 , 1438,2707,2353 GG,GA,AA 30.6628,32.9845,42.9594 , , 75665019 5583,7413 2198 4300 6498 SO:0001627 intron_variant AF285758 CCDS10923.1, CCDS45532.1 16q23.1 2014-09-17 ENSG00000065427 ENSG00000065427 3735 6.1.1.6 Aminoacyl tRNA synthetases / Class II 6215 protein-coding gene gene with protein product lysine tRNA ligase 601421 deafness, autosomal recessive 89 DFNB89 NA 8812440, 9278442, 23768514 Standard NM_005548 NM_005548 NA Approved KARS2, KARS1 uc002fer.3 Q15046 OTTHUMG00000137609 ENST00000319410.5:c.1422+46T>C chr16.hg19:g.75665019A>G NA A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23 hg19 CCDS45532.1 0.02 3.813156 ACCxTTC COVERED NOVEL KARS-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269024.1 1 10.531301 KEEP 0 0 0 35 1091 AA 0.999999 0.999998 0 - 5 60 178 0 0 10.761552 139 60 5051 215 ENST00000319410.5 0.034722 1 TERF2IP 54386 __UNKNOWN__ __UNKNOWN__ 16 75681743 75681743 __UNKNOWN__ 5'UTR SNP C C G rs1865493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75681743C>G ENST00000300086.4 + 0 60 NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein NA NA negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 CAGGCGCTCGCGAGGGGGTAG 0.652 NA C||| 2196 0.438498 0.534 0.3862 5008 , , NA 14500 0.7173 NA 0.1024 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 C 2132,2264 544,1044,610 22 23 23 -2 0 16 dbSNP_92 23 810,7790 36,738,3526 no utr-5 TERF2IP NM_018975.3 580,1782,4136 GG,GC,CC 9.4186,48.4986,22.6377 75681743 2942,10054 2198 4300 6498 SO:0001623 5_prime_UTR_variant AK000669 CCDS32491.1 16q23.1 2012-10-03 ENSG00000166848 ENSG00000166848 54386 19246 protein-coding gene gene with protein product 605061 NA 10850490 Standard NM_018975 NM_018975 NA Approved RAP1 uc002fet.2 Q9NYB0 OTTHUMG00000177136 ENST00000300086.4:c.-38C>G chr16.hg19:g.75681743C>G NA B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2 hg19 CCDS32491.1 0.02 5.619326 TCGxGAG COVERED NOVEL TERF2IP-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000435519.1 2 19.860529 KEEP 0 0 0 66 2213 CC 1 1 0 + 8 60 282 0 0 17.455758 191 60 6803 284 ENST00000300086.4 0.040201 1 AC025287.1 0 __UNKNOWN__ __UNKNOWN__ 16 75728368 75728368 __UNKNOWN__ Missense_Mutation SNP A A G rs17697324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:75728368A>G ENST00000398113.2 - 4 448 c.449T>C c.(448-450)aTg>aCg p.M150T NA NA NA CAATAAATTCATGGGCTCCAT 0.418 NA A||| 1268 0.253195 0.0219 0.3487 5008 , , NA 19748 0.6131 NA 0.0408 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000398113.2:c.449T>C chr16.hg19:g.75728368A>G ENSP00000381183:p.Met150Thr NA hg19 0.02 12.783935 TTCxTGG COVERED 505 0.23122710622710624 9 0.018292682926829267 110 0.30386740331491713 356 0.6223776223776224 30 0.0395778364116095 A 7.783 0.710013 0.15239 . . ENSG00000214325 ENST00000398113 D 0.93659 -3.26 3.55 2.43 0.29744 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.37502 -0.9703 5 0.38643 T 0.18 . 6.1059 0.20073 0.7733:0.0:0.0:0.2267 rs17697324;rs17697324 . . . T 150 ENSP00000381183:M150T ENSP00000381183:M150T M - 2 0 AC025287.1 74285869 0.001000 0.12720 0.001000 0.08648 0.001000 0.01503 0.803000 0.27083 0.706000 0.31912 0.443000 0.29094 ATG NOVEL AC025287.1-201 NOVEL basic|appris_principal protein_coding NA protein_coding 1 12.938853 KEEP 0 0 0 43 1343 AA 1 1 0 - 11 60 370 0 0 21.213382 336 60 12428 495 ENST00000398113.2 0.0317 1 ADAMTS18 170692 __UNKNOWN__ __UNKNOWN__ 16 77401545 77401545 __UNKNOWN__ Missense_Mutation SNP A A G rs11643211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:77401545A>G ENST00000282849.5 - 4 989 c.571T>C c.(571-573)Tac>Cac p.Y191H ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 191 NA Y -> H (in dbSNP:rs11643211). {ECO:0000269|PubMed:15489334}. eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331) proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGGGAGCTGTAGTTGTGTTCC 0.502 NA A||| 1837 0.366813 0.2519 0.5187 5008 , , NA 19997 0.5774 NA 0.2495 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 A HIS/TYR 1145,3251 405.5+/-333.5 150,845,1203 118 105 110 571 4.7 1 16 dbSNP_120 110 2138,6462 367.1+/-334.6 260,1618,2422 yes missense ADAMTS18 NM_199355.2 83 410,2463,3625 GG,GA,AA 24.8605,26.0464,25.2616 benign 191/1222 77401545 3283,9713 2198 4300 6498 SO:0001583 missense AJ311903 CCDS10926.1 16q23 2008-07-29 2005-08-19 ENSG00000140873 ENSG00000140873 170692 ADAM metallopeptidases with thrombospondin type 1 motif 17110 protein-coding gene gene with protein product 607512 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18 ADAMTS21 NA 11867212, 17546048 Standard NM_199355 NA Approved uc002ffc.4 Q8TE60 OTTHUMG00000137619 ENST00000282849.5:c.571T>C chr16.hg19:g.77401545A>G ENSP00000282849:p.Tyr191His NA Q6P4R5|Q6ZWJ9 hg19 CCDS10926.1 0.02 7.061443 TGTxGTT COVERED 797 0.3649267399267399 113 0.22967479674796748 168 0.46408839779005523 340 0.5944055944055944 176 0.23218997361477572 A 16.91 3.251844 0.59212 0.260464 0.248605 ENSG00000140873 ENST00000282849;ENST00000449265 T;T 0.05786 3.39;3.39 4.72 4.72 0.59763 Peptidase M12B, propeptide (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.39397 1.21 0.19575 P 0.999968987 P 0.37548 0.599 B 0.40982 0.345 T 0.10543 -1.0625 9 0.15952 T 0.53 . 13.538 0.61657 1.0:0.0:0.0:0.0 rs11643211;rs17770649;rs17846623;rs17859713;rs52807385;rs59374560;rs11643211 191 Q8TE60 ATS18_HUMAN H 191 ENSP00000282849:Y191H;ENSP00000392540:Y191H ENSP00000282849:Y191H Y - 1 0 ADAMTS18 75959046 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 6.985000 0.76193 1.980000 0.57719 0.454000 0.30748 TAC NOVEL ADAMTS18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269037.1 1 6.618458 KEEP 0 0 0 22 657 AA 0.999879 0.999879 0 - 6 60 236 0 0 14.858853 187 60 6646 250 ENST00000282849.5 0.031088 1 VAT1L 57687 __UNKNOWN__ __UNKNOWN__ 16 77913219 77913219 __UNKNOWN__ Intron SNP C C T rs9930395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:77913219C>T ENST00000302536.2 + 6 1035 VAT1L_ENST00000563850.1_Intron NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like NA NA oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 gacagcgtctcgttctgtcac 0.498 NA C||| 1230 0.245607 0.0492 0.3415 5008 , , NA 20857 0.3839 NA 0.2465 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB046796 CCDS32492.1 16q23.1 2014-09-09 2013-08-23 ENSG00000171724 ENSG00000171724 57687 29315 protein-coding gene gene with protein product vesicle amine transport protein 1 homolog (T. californica)-like NA 10997877 Standard NM_020927 NM_020927 NA Approved KIAA1576 uc002ffg.1 Q9HCJ6 OTTHUMG00000176845 ENST00000302536.2:c.882+98C>T chr16.hg19:g.77913219C>T NA Q8IYW8 hg19 CCDS32492.1 0.02 6.550658 TCTxGTT COVERED NOVEL VAT1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000434010.1 0 6.921348 KEEP 0 0 0 23 768 CC 0.999909 0.999909 0 + 9 60 331 0 0 21.798093 175 60 5581 223 ENST00000302536.2 0.048913 1 CLEC3A 10143 __UNKNOWN__ __UNKNOWN__ 16 78065673 78065673 __UNKNOWN__ 3'UTR SNP A A T rs7188702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:78065673A>T ENST00000299642.4 + 0 1641 RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_3'UTR NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A NA NA skeletal system development (GO:0001501) extracellular region (GO:0005576) carbohydrate binding (GO:0030246) NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GGAAGCTGAAAACTGAATTTA 0.299 NA A||| 1941 0.38758 0.1785 0.4395 5008 , , NA 17162 0.5079 NA 0.4056 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077345 CCDS10927.1, CCDS10927.2 16q23 2008-02-05 2005-02-09 2005-02-11 ENSG00000166509 ENSG00000166509 10143 C-type lectin domain containing 2052 protein-coding gene gene with protein product 613588 C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived) CLECSF1 NA 10524194 Standard NM_005752 NM_001244755 NA Approved uc002ffh.5 O75596 OTTHUMG00000137620 ENST00000299642.4:c.*935A>T chr16.hg19:g.78065673A>T NA B2R8C4|Q3SX91|Q6UXF5 hg19 CCDS10927.2 0.02 12.553372 GAAxACT COVERED NOVEL CLEC3A-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000269041.2 1 3.443763 KEEP 0 1 30 22 681 AA 0.999892 0.999892 0 + 9 60 332 0 0 19.882426 296 60 10691 385 ENST00000299642.4 0.029508 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81157324 81157324 __UNKNOWN__ RNA SNP G G A rs4889241 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81157324G>A ENST00000534142.1 - 0 803 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GTAGACAGTGGACTCCACAAA 0.567 NA a||| 4366 0.871805 0.6974 0.9553 5008 , , NA 19443 0.9415 NA 0.9791 False NA ,,, NA NA NA 2504 0.8661 NA NA NA NA 0 A PHE/SER 3122,1030 1168,786,122 135 134 135 6415 5.2 0.9 16 dbSNP_111 135 8233,185 4026,181,2 yes missense PKD1L2 NM_052892.3 155 5194,967,124 AA,AG,GG 2.1977,24.8073,9.6659 benign 2139/2460 81157324 11355,1215 2076 4209 6285 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000534142.1: chr16.hg19:g.81157324G>A NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 4.144419 GTGxACT COVERED NOVEL PKD1L2-009 PUTATIVE basic|exp_conf processed_transcript NA polymorphic_pseudogene OTTHUMT00000387969.1 0 3.310744 KEEP 0 0 0 11 389 GG 0.993072 0.993072 0 - 5 60 182 0 0 11.403621 124 60 4511 173 ENST00000534142.1 0.03876 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81175103 81175103 __UNKNOWN__ RNA SNP G G A rs35941327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81175103G>A ENST00000525539.1 - 0 5215 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ACTCCGTGCCGCCTTGGGCTT 0.582 NA g||| 676 0.134984 0.1475 0.0965 5008 , , NA 19110 0.2282 NA 0.1044 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 G VAL/ALA 491,3475 35,421,1527 19 21 20 5216 -5.2 0 16 dbSNP_126 20 776,7524 34,708,3408 yes missense PKD1L2 NM_052892.3 64 69,1129,4935 AA,AG,GG 9.3494,12.3802,10.3294 benign 1739/2460 81175103 1267,10999 1983 4150 6133 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81175103G>A NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 8.729128 GCCxCCT COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 1 13.834986 KEEP 0 0 0 46 1588 GG 1 1 0 - 11 60 392 0 0 25.77034 197 60 6924 314 ENST00000525539.1 0.052885 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81180897 81180897 __UNKNOWN__ RNA SNP G G A rs35852981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81180897G>A ENST00000525539.1 - 0 5188 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CATGTCCAGGGCTTACCTTTC 0.522 NA G||| 523 0.104433 0.0234 0.0836 5008 , , NA 19440 0.25 NA 0.1054 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 G 91,3795 0,91,1852 123 126 125 0.1 0 16 dbSNP_126 125 701,7557 27,647,3455 no intron PKD1L2 NM_052892.3 27,738,5307 AA,AG,GG 8.4887,2.3417,6.5217 81180897 792,11352 1943 4129 6072 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81180897G>A NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 3.80304 AGGxCTT COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 1 4.815519 KEEP 0 0 0 16 565 GG 0.997832 0.997831 0 - 6 60 176 0 0 10.240178 128 60 4541 172 ENST00000525539.1 0.044776 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81180995 81180995 __UNKNOWN__ RNA SNP T T C rs66463064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81180995T>C ENST00000525539.1 - 0 5095 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GTTCTGTGGATAAATGACATC 0.512 NA C||| 523 0.104433 0.0234 0.0836 5008 , , NA 21934 0.25 NA 0.1054 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 C CYS/TYR 92,3794 0,92,1851 151 155 154 5096 1.1 0 16 dbSNP_130 154 707,7581 27,653,3464 yes missense PKD1L2 NM_052892.3 194 27,745,5315 CC,CT,TT 8.5304,2.3675,6.5632 benign 1699/2460 81180995 799,11375 1943 4144 6087 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81180995T>C NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 7.344467 GGAxAAA COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 2 6.318645 KEEP 0 0 0 21 655 TT 0.999869 0.999869 0 - 8 60 293 0 0 19.067566 165 60 6016 249 ENST00000525539.1 0.046243 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81181066 81181066 __UNKNOWN__ RNA SNP G G A rs55991107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81181066G>A ENST00000525539.1 - 0 5024 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGCCCAAGGCGGGGGATGGCA 0.547 NA G||| 524 0.104633 0.0234 0.0836 5008 , , NA 21273 0.251 NA 0.1054 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 G 95,3901 0,95,1903 81 84 83 5025 0.8 0 16 dbSNP_129 83 710,7594 27,656,3469 no coding-synonymous PKD1L2 NM_052892.3 27,751,5372 AA,AG,GG 8.5501,2.3774,6.5447 1675/2460 81181066 805,11495 1998 4152 6150 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81181066G>A NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 4.117192 GGCxGGG COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 0 3.31032 KEEP 0 0 0 11 357 GG 0.993072 0.993071 0 - 9 60 333 0 0 23.691431 112 60 3929 155 ENST00000525539.1 0.07438 0.999999 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81181869 81181869 __UNKNOWN__ RNA SNP T T C rs9921827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81181869T>C ENST00000525539.1 - 0 4846 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ACGGGTGTTCTGAAAGATCTG 0.572 NA C||| 893 0.178315 0.1747 0.2205 5008 , , NA 20865 0.3125 NA 0.1143 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 C ARG/GLN 596,3164 46,504,1330 60 61 60 4847 3.4 0 16 dbSNP_119 60 720,7516 28,664,3426 yes missense PKD1L2 NM_052892.3 43 74,1168,4756 CC,CT,TT 8.7421,15.8511,10.9703 benign 1616/2460 81181869 1316,10680 1880 4118 5998 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81181869T>C NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 6.978187 TTCxGAA COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 0 8.425441 KEEP 0 0 0 28 877 TT 0.999997 0.999997 0 - 9 60 334 0 0 21.923559 183 60 6842 271 ENST00000525539.1 0.046875 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81181983 81181983 __UNKNOWN__ RNA SNP G G A rs35424543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81181983G>A ENST00000525539.1 - 0 4753 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GGAAGGAAGGGATCAAAGGGA 0.577 NA G||| 511 0.102037 0.0234 0.0778 5008 , , NA 18303 0.249 NA 0.0984 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 G 74,3768 0,74,1847 29 30 30 1.2 0 16 dbSNP_126 30 649,7609 24,601,3504 no intron PKD1L2 NM_052892.3 24,675,5351 AA,AG,GG 7.859,1.9261,5.9752 81181983 723,11377 1921 4129 6050 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81181983G>A NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 1.942056 AGGxATC COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 0 2.708177 KEEP 0 0 0 9 298 GG 0.99254 0.992165 0 - 6 60 212 0 0 14.646809 79 60 2982 99 ENST00000525539.1 0.070588 0.999622 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81190413 81190413 __UNKNOWN__ RNA SNP T T C rs35326835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81190413T>C ENST00000525539.1 - 0 4125 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGAAAACAATGGAGTTTTCT 0.517 NA T||| 672 0.134185 0.0159 0.2075 5008 , , NA 22023 0.3056 NA 0.1064 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 T 11,927 0,11,458 22 38 31 1.4 0.2 16 dbSNP_126 31 86,1152 2,82,535 no intron PKD1L2 NM_052892.3 2,93,993 CC,CT,TT 6.9467,1.1727,4.4577 81190413 97,2079 469 619 1088 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81190413T>C NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 8.67294 CAAxGGA COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 2 9.328074 KEEP 0 0 0 31 971 TT 0.999997 0.999997 0 - 15 60 550 0 0 37.883168 222 60 8149 322 ENST00000525539.1 0.063291 1 PKD1L2 114780 __UNKNOWN__ __UNKNOWN__ 16 81190598 81190598 __UNKNOWN__ RNA SNP T T C rs9938333 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81190598T>C ENST00000525539.1 - 0 3990 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 NA NA ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GTCTGGTGGATGTTGATGGCA 0.582 NA T||| 1063 0.21226 0.1483 0.2781 5008 , , NA 17406 0.369 NA 0.1561 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 T VAL/ILE 605,3737 34,537,1600 59 63 62 3991 2.9 0 16 dbSNP_119 62 1133,7393 76,981,3206 yes missense PKD1L2 NM_052892.3 29 110,1518,4806 CC,CT,TT 13.2888,13.9337,13.5064 benign 1331/2460 81190598 1738,11130 2171 4263 6434 AY164483 CCDS61998.1, CCDS61999.1 16q23.2 2014-09-11 ENSG00000166473 ENSG00000166473 114780 21715 protein-coding gene gene with protein product 607894 NA 12782129 Standard NM_052892 NA Approved KIAA1879 uc002fgf.1 Q7Z442 OTTHUMG00000166126 ENST00000525539.1: chr16.hg19:g.81190598T>C NA Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08 hg19 0.02 5.976667 GGAxGTT COVERED NOVEL PKD1L2-001 KNOWN non_canonical_polymorphism|basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000387972.2 1 5.716944 KEEP 0 0 0 19 589 TT 0.99986 0.99986 0 - 13 60 436 0 0 29.573609 166 60 6067 249 ENST00000525539.1 0.072626 1 BCMO1 0 __UNKNOWN__ __UNKNOWN__ 16 81279120 81279120 __UNKNOWN__ Silent SNP T T C rs28370522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81279120T>C ENST00000258168.2 + 2 566 c.105T>C c.(103-105)aaT>aaC p.N35N BCMO1_ENST00000425577.2_Missense_Mutation_p.W10R|BCMO1_ENST00000564552.1_Silent_p.N35N NM_017429.2 NP_059125.2 NA NA p.N35N(1) breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 TGCTCCGCAATGGGCCTGGGA 0.537 NA C||| 1901 0.379593 0.5484 0.366 5008 , , NA 21216 0.3472 NA 0.341 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 2281,2123 576.8+/-384.3 582,1117,503 152 147 149 105 -7.8 0 16 dbSNP_125 149 2758,5842 680.0+/-403.6 466,1826,2008 no coding-synonymous BCMO1 NM_017429.2 1048,2943,2511 CC,CT,TT 32.0698,48.2062,38.7496 35/548 81279120 5039,7965 2202 4300 6502 SO:0001819 synonymous_variant NA NA NA NA ENST00000258168.2:c.105T>C chr16.hg19:g.81279120T>C NA hg19 CCDS10934.1 0.02 9.752152 CAAxGGG COVERED 839 0.3841575091575092 271 0.5508130081300813 138 0.3812154696132597 178 0.3111888111888112 252 0.3324538258575198 C 7.118 0.577439 0.13686 0.517938 0.320698 ENSG00000135697 ENST00000425577 D 0.93247 -3.19 4.89 -7.85 0.01192 . . . . . T 0.00012 0.0000 . . . 0.49798 P 1.7100000000003224E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.17077 -1.0381 7 0.87932 D 0 -34.7449 17.4964 0.87718 0.0:0.2133:0.0:0.7867 rs28370522 10 E7EM88 . R 10 ENSP00000400586:W10R ENSP00000400586:W10R W + 1 0 BCMO1 79836621 0.000000 0.05858 0.029000 0.17559 0.549000 0.35272 -2.127000 0.01315 -2.283000 0.00672 -1.551000 0.00897 TGG NOVEL BCMO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269056.1 0 15.346125 KEEP 0 0 0 51 1598 TT 1 1 0 + 9 60 312 0 0 18.172943 275 60 10073 412 ENST00000258168.2 0.03169 1 PLCG2 5336 __UNKNOWN__ __UNKNOWN__ 16 81946423 81946423 __UNKNOWN__ Intron SNP C C T rs4243222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:81946423C>T ENST00000359376.3 + 19 2268 NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) NA NA B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCTGCAGTGCCCTGCCCCCCC 0.627 NA C||| 2522 0.503594 0.3533 0.6311 5008 , , NA 18004 0.7748 NA 0.3787 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42204.1 16q24.1 2014-09-17 ENSG00000197943 5336 3.1.4.11 SH2 domain containing 9066 protein-coding gene gene with protein product 600220 NA 7835906 Standard XR_248240 NA Approved uc002fgt.3 P16885 ENST00000359376.3:c.2054+102C>T chr16.hg19:g.81946423C>T NA D3DUL3|Q3ZTS2|Q59H45|Q969T5 hg19 CCDS42204.1 0.02 1.54352 TGCxCTG COVERED NOVEL PLCG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000432429.1 1 2.407487 KEEP 0 0 0 8 270 CC 0.99257 0.992195 0 + 5 60 167 0 0 10.832493 80 60 2785 106 ENST00000359376.3 0.058824 0.999622 MPHOSPH6 10200 __UNKNOWN__ __UNKNOWN__ 16 82184973 82184973 __UNKNOWN__ Intron SNP A A G rs2303268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:82184973A>G ENST00000258169.4 - 3 306 MPHOSPH6_ENST00000563504.1_Intron NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 NA NA maturation of 5.8S rRNA (GO:0000460) cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634) RNA binding (GO:0003723) endometrium(1)|large_intestine(1)|lung(3) 5 CCCAATTATTAGCAGAAAAAA 0.299 NA A||| 995 0.198682 0.0477 0.3963 5008 , , NA 15953 0.3155 NA 0.1272 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 A 100,1284 7,86,599 22 19 20 2.8 1 16 dbSNP_100 20 404,2740 35,334,1203 no intron MPHOSPH6 NM_005792.2 42,420,1802 GG,GA,AA 12.8499,7.2254,11.1307 82184973 504,4024 692 1572 2264 SO:0001627 intron_variant X98263 CCDS10937.1 16q23.3 2008-03-03 ENSG00000135698 ENSG00000135698 10200 7214 protein-coding gene gene with protein product 605500 NA 8885239 Standard NM_005792 NM_005792 NA Approved MPP6 uc002fgw.3 Q99547 OTTHUMG00000137632 ENST00000258169.4:c.255+55T>C chr16.hg19:g.82184973A>G NA B2RAF0 hg19 CCDS10937.1 0.02 4.728923 ATTxGCA COVERED NOVEL MPHOSPH6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269058.1 0 11.13027 KEEP 0 0 0 37 1149 AA 1 1 0 - 6 60 227 0 0 14.771956 136 60 5076 246 ENST00000258169.4 0.042254 1 CDH13 1012 __UNKNOWN__ __UNKNOWN__ 16 83813511 83813511 __UNKNOWN__ Intron SNP G G A rs57930285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:83813511G>A ENST00000268613.10 + 13 1915 CDH13_ENST00000566620.1_Intron|CDH13_ENST00000428848.3_Intron P55290 CAD13_HUMAN cadherin 13 NA NA adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040) anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TGCAAAAAGTGCTATGGTAAA 0.438 NA A||| 1744 0.348243 0.2065 0.3775 5008 , , NA 22126 0.5962 NA 0.2316 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59288 CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1 16q23.3 2013-08-27 2013-08-27 ENSG00000140945 1012 Cadherins / Major cadherins 1753 protein-coding gene gene with protein product T-cadherin, H-cadherin (heart) 601364 NA 8673923, 9468307 Standard NM_001257 NM_001257 NA Approved CDHH uc010vns.2 P55290 ENST00000268613.10:c.1823-62G>A chr16.hg19:g.83813511G>A NA A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3 hg19 CCDS58485.1 0.02 9.382516 AGTxCTA COVERED NOVEL CDH13-009 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000432918.1 4 9.330808 KEEP 0 0 0 31 1126 GG 0.999997 0.999997 0 + 10 60 319 0 0 17.827517 282 60 10644 377 ENST00000268613.10 0.034247 1 CDH13 1012 __UNKNOWN__ __UNKNOWN__ 16 83813514 83813514 __UNKNOWN__ Intron SNP A A G rs16961737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:83813514A>G ENST00000268613.10 + 13 1915 CDH13_ENST00000566620.1_Intron|CDH13_ENST00000428848.3_Intron P55290 CAD13_HUMAN cadherin 13 NA NA adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040) anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) AAAAAGTGCTATGGTAAATTG 0.448 NA A||| 1522 0.303914 0.093 0.3588 5008 , , NA 22139 0.5962 NA 0.1928 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59288 CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1 16q23.3 2013-08-27 2013-08-27 ENSG00000140945 1012 Cadherins / Major cadherins 1753 protein-coding gene gene with protein product T-cadherin, H-cadherin (heart) 601364 NA 8673923, 9468307 Standard NM_001257 NM_001257 NA Approved CDHH uc010vns.2 P55290 ENST00000268613.10:c.1823-59A>G chr16.hg19:g.83813514A>G NA A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3 hg19 CCDS58485.1 0.02 13.370492 GCTxTGG COVERED NOVEL CDH13-009 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000432918.1 4 9.62912 KEEP 0 0 0 32 999 AA 0.999997 0.999997 0 + 12 60 437 0 0 27.506892 291 60 10264 394 ENST00000268613.10 0.039604 1 CDH13 1012 __UNKNOWN__ __UNKNOWN__ 16 83828544 83828544 __UNKNOWN__ Intron SNP C C G rs3743617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:83828544C>G ENST00000268613.10 + 15 2368 CDH13_ENST00000566620.1_Intron|RP11-483P21.2_ENST00000565714.1_RNA|CDH13_ENST00000428848.3_Intron P55290 CAD13_HUMAN cadherin 13 NA NA adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040) anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169) large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TTATACCTTGCCTGTCATTTT 0.363 NA C||| 1528 0.305112 0.0832 0.3804 5008 , , NA 18490 0.5942 NA 0.1978 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 C ,,, 129,1255 6,117,569 136 110 118 ,,, -0.2 0 16 dbSNP_107 118 570,2612 41,488,1062 no intron,intron,intron,intron CDH13 NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4 ,,, 47,605,1631 GG,GC,CC 17.9133,9.3208,15.3088 ,,, ,,, 83828544 699,3867 692 1591 2283 SO:0001627 intron_variant U59288 CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1 16q23.3 2013-08-27 2013-08-27 ENSG00000140945 1012 Cadherins / Major cadherins 1753 protein-coding gene gene with protein product T-cadherin, H-cadherin (heart) 601364 NA 8673923, 9468307 Standard NM_001257 NM_001257 NA Approved CDHH uc010vns.2 P55290 ENST00000268613.10:c.2276-84C>G chr16.hg19:g.83828544C>G NA A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3 hg19 CCDS58485.1 0.02 8.049272 TTGxCTG COVERED NOVEL CDH13-009 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000432918.1 2 7.825391 KEEP 0 0 0 26 915 CC 0.999957 0.999957 0 + 10 60 350 0 0 22.174776 207 60 7766 265 ENST00000268613.10 0.046083 1 OSGIN1 29948 __UNKNOWN__ __UNKNOWN__ 16 83984610 83984610 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:83984610A>C ENST00000361711.3 + 1 440 OSGIN1_ENST00000343939.2_Intron|RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065) growth factor activity (GO:0008083) autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 acacgtgagcacatgtgcaca 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY258066 CCDS10939.1 16q23.3 2010-11-23 ENSG00000140961 ENSG00000140961 29948 30093 protein-coding gene gene with protein product bone marrow stromal cell-derived growth inhibitor, pregnancy induced growth inhibitor 607975 NA 11459809, 14570898 Standard NM_013370 NM_182981 NA Approved BDGI, OKL38 uc002fhc.3 Q9UJX0 OTTHUMG00000137640 ENST00000361711.3:c.-33+1499A>C chr16.hg19:g.83984610A>C NA Q52M33|Q86UQ1|Q96S88|Q9BZ70 hg19 CCDS10939.1 0.02 -0.394783 AGCxCAT COVERED NOVEL OSGIN1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000432616.1 2 4.212479 KEEP 11 0 0 14 434 AA 0.994391 0.921442 0 + 3 43 108 0 0 7.476338 41 60 1462 74 ENST00000361711.3 0.068182 0.92664 NECAB2 54550 __UNKNOWN__ __UNKNOWN__ 16 84035446 84035446 __UNKNOWN__ Missense_Mutation SNP C C G rs2271298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84035446C>G ENST00000305202.4 + 12 1074 c.1057C>G c.(1057-1059)Ctg>Gtg p.L353V NECAB2_ENST00000565691.1_Missense_Mutation_p.L270V NM_019065.2 NP_061938.2 Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 353 ABM. NA L -> V (in dbSNP:rs2271298). cytoplasm (GO:0005737) calcium ion binding (GO:0005509) endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 GCAGAGCCCCCTGTGTAAGGC 0.632 NA G||| 1955 0.390375 0.7307 0.2839 5008 , , NA 17594 0.4683 NA 0.1093 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 G VAL/LEU 2891,1509 474.6+/-357.0 944,1003,253 59 50 53 1057 4.1 0.2 16 dbSNP_100 53 956,7644 772.5+/-407.7 54,848,3398 yes missense NECAB2 NM_019065.2 32 998,1851,3651 GG,GC,CC 11.1163,34.2955,29.5923 benign 353/387 84035446 3847,9153 2200 4300 6500 SO:0001583 missense AY299331 CCDS10940.1 16q23.3-q24.1 2013-01-10 2007-12-06 2007-12-06 ENSG00000103154 ENSG00000103154 54550 N-terminal EF-hand calcium binding proteins, EF-hand domain containing 23746 protein-coding gene gene with protein product EF-hand calcium binding protein 2 EFCBP2 NA 12044471 Standard NM_019065 NM_019065 NA Approved uc002fhd.3 Q7Z6G3 OTTHUMG00000137636 ENST00000305202.4:c.1057C>G chr16.hg19:g.84035446C>G ENSP00000307449:p.Leu353Val NA A2RRG3|O75547|Q6ZSK0 hg19 CCDS10940.1 0.02 7.270793 CCCxTGT COVERED 749 0.34294871794871795 342 0.6951219512195121 82 0.2265193370165746 254 0.44405594405594406 71 0.09366754617414248 G 0 -2.609746 0.00121 0.657045 0.111163 ENSG00000103154 ENST00000305202 T 0.29142 1.58 5.09 4.14 0.48551 Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1); 0.662303 0.14800 N 0.297668 T 0.00012 0.0000 N 0.00146 -1.995 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.36601 -0.9741 9 0.10902 T 0.67 -12.3086 5.5934 0.17313 0.1763:0.1641:0.6597:0.0 rs2271298;rs2271298 353 Q7Z6G3 NECA2_HUMAN V 353 ENSP00000307449:L353V ENSP00000307449:L353V L + 1 2 NECAB2 82592947 0.036000 0.19791 0.205000 0.23548 0.012000 0.07955 0.591000 0.23969 0.565000 0.29255 -0.216000 0.12614 CTG NOVEL NECAB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269077.2 0 7.824681 KEEP 0 0 0 26 888 CC 0.999957 0.999957 0 + 9 60 336 0 0 22.610261 161 60 6159 247 ENST00000305202.4 0.052941 1 MBTPS1 8720 __UNKNOWN__ __UNKNOWN__ 16 84089767 84089767 __UNKNOWN__ Intron SNP C C T rs17849043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84089767C>T ENST00000343411.3 - 22 3327 NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281) endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TAAAACAAAACAAAAATAAGC 0.403 NA T||| 1831 0.365615 0.3283 0.428 5008 , , NA 22197 0.4137 NA 0.3519 False NA ,,, NA NA NA 2504 0.3364 NA NA NA NA 0 T 1467,2933 677.6+/-403.4 264,939,997 58 55 56 -3.1 0 16 dbSNP_123 56 2969,5631 667.0+/-402.4 501,1967,1832 no intron MBTPS1 NM_003791.2 765,2906,2829 TT,TC,CC 34.5233,33.3409,34.1231 84089767 4436,8564 2200 4300 6500 SO:0001627 intron_variant D42053 CCDS10941.1 16q24 2008-08-04 2005-08-17 ENSG00000140943 ENSG00000140943 8720 15456 protein-coding gene gene with protein product 603355 membrane-bound transcription factor protease, site 1 NA 9809072, 10944850 Standard NM_003791 NM_003791 NA Approved S1P, KIAA0091, SKI-1, PCSK8 uc002fhi.3 Q14703 OTTHUMG00000137639 ENST00000343411.3:c.2832-27G>A chr16.hg19:g.84089767C>T NA A8K6V8|Q24JQ2|Q9UF67 hg19 CCDS10941.1 0.02 2.325955 AAAxAAA COVERED NOVEL MBTPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269080.2 1 4.781194 KEEP 0 0 0 16 544 CC 0.997832 0.990773 0 - 6 60 220 0 0 16.216523 58 60 2230 102 ENST00000343411.3 0.09375 0.992926 MBTPS1 8720 __UNKNOWN__ __UNKNOWN__ 16 84115279 84115279 __UNKNOWN__ Intron SNP T T C rs3826139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84115279T>C ENST00000343411.3 - 11 1944 MBTPS1_ENST00000569770.1_Intron NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281) endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AGGCTTGTATTTTGTGCAGAG 0.522 NA T||| 1381 0.275759 0.1241 0.33 5008 , , NA 17543 0.4226 NA 0.3211 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D42053 CCDS10941.1 16q24 2008-08-04 2005-08-17 ENSG00000140943 ENSG00000140943 8720 15456 protein-coding gene gene with protein product 603355 membrane-bound transcription factor protease, site 1 NA 9809072, 10944850 Standard NM_003791 NM_003791 NA Approved S1P, KIAA0091, SKI-1, PCSK8 uc002fhi.3 Q14703 OTTHUMG00000137639 ENST00000343411.3:c.1448+72A>G chr16.hg19:g.84115279T>C NA A8K6V8|Q24JQ2|Q9UF67 hg19 CCDS10941.1 0.02 2.029843 TATxTTG COVERED NOVEL MBTPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269080.2 1 3.307527 KEEP 0 0 0 11 295 TT 0.993072 0.991548 0 - 5 60 177 0 0 12.111153 70 60 2466 88 ENST00000343411.3 0.066667 0.998465 MBTPS1 8720 __UNKNOWN__ __UNKNOWN__ 16 84115483 84115483 __UNKNOWN__ Silent SNP G G A rs3743631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84115483G>A ENST00000343411.3 - 11 1812 c.1317C>T c.(1315-1317)ccC>ccT p.P439P MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 439 Peptidase S8. NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281) endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCATACTGGCGGGATTCACCA 0.517 NA A||| 2650 0.529153 0.5696 0.5159 5008 , , NA 5965 0.6974 NA 0.4384 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 A 2310,2090 572.1+/-383.2 604,1102,494 56 58 57 1317 -5 0.8 16 dbSNP_107 57 3609,4991 626.1+/-397.8 757,2095,1448 no coding-synonymous MBTPS1 NM_003791.2 1361,3197,1942 AA,AG,GG 41.9651,47.5,45.5308 439/1053 84115483 5919,7081 2200 4300 6500 SO:0001819 synonymous_variant D42053 CCDS10941.1 16q24 2008-08-04 2005-08-17 ENSG00000140943 ENSG00000140943 8720 15456 protein-coding gene gene with protein product 603355 membrane-bound transcription factor protease, site 1 NA 9809072, 10944850 Standard NM_003791 NM_003791 NA Approved S1P, KIAA0091, SKI-1, PCSK8 uc002fhi.3 Q14703 OTTHUMG00000137639 ENST00000343411.3:c.1317C>T chr16.hg19:g.84115483G>A NA A8K6V8|Q24JQ2|Q9UF67 hg19 CCDS10941.1 0.02 16.807379 GGCxGGA COVERED NOVEL MBTPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269080.2 2 21.436031 KEEP 0 2 62 93 3135 GG 1 1 0 - 24 60 901 0 0 63.448582 330 60 11583 555 ENST00000343411.3 0.067797 1 MBTPS1 8720 __UNKNOWN__ __UNKNOWN__ 16 84115561 84115561 __UNKNOWN__ Intron SNP G G A rs3743632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84115561G>A ENST00000343411.3 - 11 1782 MBTPS1_ENST00000569770.1_Intron NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281) endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TAAAAGAATGGAAATTGGACC 0.473 NA A||| 1447 0.288938 0.1558 0.33 5008 , , NA 19888 0.4226 NA 0.3161 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 A 787,3613 729.4+/-410.0 73,641,1486 22 24 23 2.2 0 16 dbSNP_107 23 2633,5967 664.4+/-402.2 374,1885,2041 no intron MBTPS1 NM_003791.2 447,2526,3527 AA,AG,GG 30.6163,17.8864,26.3077 84115561 3420,9580 2200 4300 6500 SO:0001627 intron_variant D42053 CCDS10941.1 16q24 2008-08-04 2005-08-17 ENSG00000140943 ENSG00000140943 8720 15456 protein-coding gene gene with protein product 603355 membrane-bound transcription factor protease, site 1 NA 9809072, 10944850 Standard NM_003791 NM_003791 NA Approved S1P, KIAA0091, SKI-1, PCSK8 uc002fhi.3 Q14703 OTTHUMG00000137639 ENST00000343411.3:c.1287-48C>T chr16.hg19:g.84115561G>A NA A8K6V8|Q24JQ2|Q9UF67 hg19 CCDS10941.1 0.02 10.800536 ATGxAAA COVERED NOVEL MBTPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269080.2 1 20.20177 KEEP 0 1 34 79 2815 GG 1 1 0 - 17 60 617 0 0 42.036155 261 60 9687 447 ENST00000343411.3 0.061151 1 MBTPS1 8720 __UNKNOWN__ __UNKNOWN__ 16 84135493 84135493 __UNKNOWN__ 5'UTR SNP A A G rs907045 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84135493A>G ENST00000343411.3 - 0 391 NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281) endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021) serine-type endopeptidase activity (GO:0004252) NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CAACATTACTAATCAGCCATC 0.343 NA G||| 3905 0.779752 0.8215 0.8228 5008 , , NA 20890 0.8333 NA 0.6938 False NA ,,, NA NA NA 2504 0.726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D42053 CCDS10941.1 16q24 2008-08-04 2005-08-17 ENSG00000140943 ENSG00000140943 8720 15456 protein-coding gene gene with protein product 603355 membrane-bound transcription factor protease, site 1 NA 9809072, 10944850 Standard NM_003791 NM_003791 NA Approved S1P, KIAA0091, SKI-1, PCSK8 uc002fhi.3 Q14703 OTTHUMG00000137639 ENST00000343411.3:c.-105T>C chr16.hg19:g.84135493A>G NA A8K6V8|Q24JQ2|Q9UF67 hg19 CCDS10941.1 0.02 11.643632 ACTxATC COVERED NOVEL MBTPS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269080.2 2 6.918595 KEEP 0 0 0 23 662 AA 0.999892 0.999892 0 - 18 60 675 0 0 47.316482 254 60 8964 300 ENST00000343411.3 0.066176 1 DNAAF1 123872 __UNKNOWN__ __UNKNOWN__ 16 84189298 84189298 __UNKNOWN__ Missense_Mutation SNP C C T rs35496754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84189298C>T ENST00000378553.5 + 5 809 c.685C>T c.(685-687)Cac>Tac p.H229Y DNAAF1_ENST00000334315.5_Missense_Mutation_p.H229Y NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 229 NA axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356) axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886) dynein binding (GO:0045502) NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 TGACCTTTCGCACAACAAGCT 0.468 NA C||| 22 0.00439297 0.0 0.0 5008 , , NA 19838 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 142 113 123 NA NA 16 NA 84189298 2200 4300 6500 SO:0001583 missense BC024009 CCDS10943.2 16q24.1 2012-05-03 2011-06-09 2011-06-09 ENSG00000154099 ENSG00000154099 123872 30539 protein-coding gene gene with protein product outer row dynein assembly 7 homolog (Chlamydomonas) 613190 leucine rich repeat containing 50 LRRC50 NA 19944405 Standard NM_178452 NM_178452 NA Approved FLJ25330, ODA7, CILD13 uc002fhl.4 Q8NEP3 OTTHUMG00000128517 ENST00000378553.5:c.685C>T chr16.hg19:g.84189298C>T ENSP00000367815:p.His229Tyr NA B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6 hg19 CCDS10943.2 0.02 8.055859 TCGxACA COVERED 18 0.008241758241758242 0 0.0 0 0.0 18 0.03146853146853147 0 0.0 C 10.76 1.441498 0.25900 . . ENSG00000154099 ENST00000334315;ENST00000378553 T;T 0.21734 1.99;1.99 5.27 3.15 0.36227 . 0.258524 0.38492 N 0.001669 T 0.06371 0.0164 L 0.46614 1.455 0.40025 D 0.975459 B 0.29085 0.232 B 0.30251 0.113 T 0.04467 -1.0949 10 0.39692 T 0.17 -22.751 10.725 0.46064 0.1427:0.781:0.0:0.0763 rs35496754 229 Q8NEP3 DAAF1_HUMAN Y 229 ENSP00000334593:H229Y;ENSP00000367815:H229Y ENSP00000334593:H229Y H + 1 0 DNAAF1 82746799 0.943000 0.32029 0.998000 0.56505 0.357000 0.29423 1.886000 0.39688 2.460000 0.83146 0.655000 0.94253 CAC NOVEL DNAAF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250328.3 1 33.106571 KEEP 0 0 0 110 3902 CC 1 1 0 + 9 60 317 0 0 19.353746 230 60 8675 448 ENST00000378553.5 0.037657 1 TAF1C 9013 __UNKNOWN__ __UNKNOWN__ 16 84213965 84213965 __UNKNOWN__ Intron SNP G G A rs2278043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84213965G>A ENST00000566732.1 - 13 1519 TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000567759.1_Intron|TAF1C_ENST00000378541.4_Intron NM_001243156.1 NP_001230085 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa NA NA gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361) nucleoplasm (GO:0005654) DNA binding (GO:0003677) endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GGCCCGAGAAGGAAGGGGGAT 0.652 NA A||| 2260 0.451278 0.3472 0.487 5008 , , NA 15676 0.5575 NA 0.4543 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 A , 1390,2784 272,846,969 17 18 18 , -2.4 0 16 dbSNP_100 18 3368,4776 806,1756,1510 no intron,intron TAF1C NM_005679.3,NM_139353.2 , 1078,2602,2479 AA,AG,GG 41.3556,33.3014,38.6264 , , 84213965 4758,7560 2087 4072 6159 SO:0001627 intron_variant L39059 CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1 16q24 2008-02-05 2002-08-29 ENSG00000103168 9013 11534 protein-coding gene gene with protein product 604905 TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD NA 7801123 Standard NM_139353 NM_005679 NA Approved TAFI110, TAFI95, SL1, MGC:39976 uc010vnx.2 Q15572 ENST00000566732.1:c.1309-15C>T chr16.hg19:g.84213965G>A NA B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3 hg19 CCDS58489.1 0.02 6.931132 GAAxGAA COVERED NOVEL TAF1C-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000433047.1 0 12.209413 KEEP 0 2 64 63 2200 GG 1 1 0 - 11 60 420 0 0 29.111037 175 60 6532 325 ENST00000566732.1 0.05914 1 KCNG4 93107 __UNKNOWN__ __UNKNOWN__ 16 84271281 84271281 __UNKNOWN__ Intron SNP A A T rs4782598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84271281A>T ENST00000308251.4 - 2 29 KCNG4_ENST00000568181.1_Intron NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 NA NA protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 agttcaacacatatttattga 0.448 NA A||| 876 0.17492 0.0545 0.1816 5008 , , NA 22861 0.2123 NA 0.167 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF348984 CCDS10945.1 16q24.1 2011-07-05 ENSG00000168418 ENSG00000168418 93107 Potassium channels, Voltage-gated ion channels / Potassium channels 19697 protein-coding gene gene with protein product 607603 NA 12060745, 16382104 Standard NM_172347 NM_172347 NA Approved Kv6.4 uc010voc.2 Q8TDN1 OTTHUMG00000137638 ENST00000308251.4:c.40-150T>A chr16.hg19:g.84271281A>T NA Q96H24 hg19 CCDS10945.1 0.02 6.824472 CACxTAT COVERED NOVEL KCNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269079.2 1 8.11086 KEEP 0 0 0 27 787 AA 0.999988 0.999988 0 - 12 60 436 0 0 30.68979 152 60 5545 193 ENST00000308251.4 0.073171 1 WFDC1 58189 __UNKNOWN__ __UNKNOWN__ 16 84360463 84360463 __UNKNOWN__ Intron SNP C C T rs12933194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84360463C>T ENST00000219454.5 + 6 930 WFDC1_ENST00000568638.1_Intron NM_001282466.1|NM_001282467.1 NP_001269395.1|NP_001269396.1 Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 NA NA negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355) extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1) 9 ACATCTACCCCAACAGAGCTG 0.532 NA C||| 751 0.14996 0.2466 0.1037 5008 , , NA 21038 0.1558 NA 0.0835 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 C 1030,3370 378.3+/-322.8 122,786,1292 115 101 106 -1.8 0 16 dbSNP_121 106 985,7615 213.4+/-253.3 59,867,3374 no intron WFDC1 NM_021197.2 181,1653,4666 TT,TC,CC 11.4535,23.4091,15.5 84360463 2015,10985 2200 4300 6500 SO:0001627 intron_variant AF302109 CCDS10946.1 16q24.1 2013-01-21 ENSG00000103175 ENSG00000103175 58189 WAP four-disulfide core domain containing 15466 protein-coding gene gene with protein product 605322 NA 10967136 Standard NM_021197 NA Approved PS20 uc002fhw.3 Q9HC57 OTTHUMG00000137641 ENST00000219454.5:c.605-25C>T chr16.hg19:g.84360463C>T NA D3DUL7|Q8NC27|Q9HAU1 hg19 CCDS10946.1 0.02 19.11175 CCCxAAC COVERED NOVEL WFDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269083.2 1 17.757423 KEEP 0 0 0 59 2097 CC 1 1 0 + 13 70 485 0 0 28.678904 475 60 17766 662 ENST00000219454.5 0.026639 1 WFDC1 58189 __UNKNOWN__ __UNKNOWN__ 16 84360662 84360662 __UNKNOWN__ Intron SNP G G A rs12933776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84360662G>A ENST00000219454.5 + 6 1004 WFDC1_ENST00000568638.1_Intron NM_001282466.1|NM_001282467.1 NP_001269395.1|NP_001269396.1 Q9HC57 WFDC1_HUMAN WAP four-disulfide core domain 1 NA NA negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355) extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1) 9 GGTGAGAGTAGCGCTTTCCCT 0.498 NA G||| 697 0.139177 0.2042 0.098 5008 , , NA 19771 0.1458 NA 0.0964 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF302109 CCDS10946.1 16q24.1 2013-01-21 ENSG00000103175 ENSG00000103175 58189 WAP four-disulfide core domain containing 15466 protein-coding gene gene with protein product 605322 NA 10967136 Standard NM_021197 NA Approved PS20 uc002fhw.3 Q9HC57 OTTHUMG00000137641 ENST00000219454.5:c.660+101G>A chr16.hg19:g.84360662G>A NA D3DUL7|Q8NC27|Q9HAU1 hg19 CCDS10946.1 0.02 6.111518 GTAxCGC COVERED NOVEL WFDC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269083.2 1 3.31055 KEEP 0 0 0 11 382 GG 0.993072 0.993072 0 + 8 60 281 0 0 17.77218 169 60 6235 191 ENST00000219454.5 0.045198 1 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84402133 84402133 __UNKNOWN__ 5'UTR SNP G G T rs13330390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84402133G>T ENST00000416219.2 + 0 1 ATP2C2_ENST00000262429.4_5'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CCTGGTAACCGGGTCCGGCCC 0.771 NA G||| 2041 0.407548 0.5189 0.4784 5008 , , NA 10406 0.4812 NA 0.2674 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.-89G>T chr16.hg19:g.84402133G>T NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 1.992539 ACCxGGT COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 3.603317 KEEP 0 0 0 12 368 GG 0.993634 0.989348 0 + 6 60 212 0 0 15.257091 62 60 1954 91 ENST00000416219.2 0.088235 0.995687 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84449161 84449161 __UNKNOWN__ Silent SNP C C T rs3743651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84449161C>T ENST00000416219.2 + 7 677 c.588C>T c.(586-588)atC>atT p.I196I ATP2C2_ENST00000262429.4_Silent_p.I196I|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 196 NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CTCTCTCGATCGGAGACCGGA 0.498 NA C||| 465 0.0928514 0.0575 0.1009 5008 , , NA 20453 0.121 NA 0.0736 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 C 154,3728 4,146,1791 107 102 104 588 -4.8 0 16 dbSNP_107 104 550,7748 17,516,3616 no coding-synonymous ATP2C2 NM_014861.2 21,662,5407 TT,TC,CC 6.6281,3.967,5.78 196/947 84449161 704,11476 1941 4149 6090 SO:0001819 synonymous_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.588C>T chr16.hg19:g.84449161C>T NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 10.589183 GATxGGA COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 9.630518 KEEP 0 0 0 32 1091 CC 0.999997 0.999997 0 + 8 60 296 0 0 17.802581 260 60 9066 378 ENST00000416219.2 0.029851 1 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84476224 84476224 __UNKNOWN__ Intron SNP G G T rs2288581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84476224G>T ENST00000416219.2 + 15 1490 ATP2C2_ENST00000262429.4_Intron|ATP2C2_ENST00000420010.2_Intron O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TCCTGGGGTGGCTCTGCGGGG 0.562 NA T||| 1416 0.282748 0.1649 0.3487 5008 , , NA 15984 0.5278 NA 0.166 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 T 674,3098 66,542,1278 73 80 78 1.8 0 16 dbSNP_100 78 1206,7022 79,1048,2987 no intron ATP2C2 NM_014861.2 145,1590,4265 TT,TG,GG 14.6573,17.8685,15.6667 84476224 1880,10120 1886 4114 6000 SO:0001627 intron_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.1401+19G>T chr16.hg19:g.84476224G>T NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 3.902017 GTGxCTC COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 7.824859 KEEP 0 0 0 26 900 GG 0.999957 0.999957 0 + 7 60 246 0 0 16.015907 127 60 4670 186 ENST00000416219.2 0.052239 1 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84486866 84486866 __UNKNOWN__ Intron SNP C C T rs2288576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84486866C>T ENST00000416219.2 + 19 2018 ATP2C2_ENST00000262429.4_Intron|ATP2C2_ENST00000420010.2_Intron O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCTTGGCTGGCAGTGGGGCTG 0.632 NA C||| 49 0.00978435 0.0 0.0 5008 , , NA 15310 0.0476 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4123 0,1,2061 77 90 86 -1.6 0 16 dbSNP_100 86 1,8359 0,1,4179 no intron ATP2C2 NM_014861.2 0,2,6240 TT,TC,CC 0.012,0.0242,0.016 84486866 2,12482 2062 4180 6242 SO:0001627 intron_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.1929+25C>T chr16.hg19:g.84486866C>T NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 8.330344 TGGxAGT COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 15.04696 KEEP 0 0 0 50 1696 CC 1 1 0 + 9 60 309 0 0 18.547358 232 60 8027 367 ENST00000416219.2 0.037344 1 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84494450 84494450 __UNKNOWN__ Intron SNP G G A rs381467 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84494450G>A ENST00000416219.2 + 25 2657 ATP2C2_ENST00000262429.4_Intron|ATP2C2_ENST00000420010.2_Intron|RP11-517C16.2_ENST00000565700.1_RNA O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCCCTGGTGCGGTGCAGACGC 0.602 NA g||| 1954 0.390176 0.3722 0.428 5008 , , NA 18422 0.2986 NA 0.5308 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 A 1568,2630 294,980,825 35 38 37 -7.4 0 16 dbSNP_80 37 4141,4291 1032,2077,1107 no intron ATP2C2 NM_014861.2 1326,3057,1932 AA,AG,GG 49.1105,37.3511,45.2019 84494450 5709,6921 2099 4216 6315 SO:0001627 intron_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.2568+43G>A chr16.hg19:g.84494450G>A NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 4.34079 TGCxGTG COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 4.813955 KEEP 0 0 0 16 515 GG 0.997832 0.99783 0 + 8 60 292 0 0 20.318793 110 60 3964 142 ENST00000416219.2 0.067797 0.999998 ATP2C2 9914 __UNKNOWN__ __UNKNOWN__ 16 84497212 84497212 __UNKNOWN__ Intron SNP C C T rs1560247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84497212C>T ENST00000416219.2 + 28 2898 ATP2C2_ENST00000262429.4_Intron|ATP2C2_ENST00000420010.2_Intron|RP11-517C16.2_ENST00000565700.1_RNA O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 NA NA ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TGTTTTCTCCCTTGGCAGATT 0.507 NA T||| 1498 0.299121 0.2806 0.281 5008 , , NA 20749 0.5516 NA 0.1163 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 T 957,2871 116,725,1073 88 94 92 3 0 16 dbSNP_88 92 870,7388 45,780,3304 no intron ATP2C2 NM_014861.2 161,1505,4377 TT,TC,CC 10.5352,25.0,15.1167 84497212 1827,10259 1914 4129 6043 SO:0001627 intron_variant AK091051 CCDS42207.1, CCDS67088.1 16q24.1 2010-04-20 ENSG00000064270 ENSG00000064270 9914 3.6.3.8 ATPases / P-type 29103 protein-coding gene gene with protein product secretory pathway calcium ATPase 2 613082 NA 9734811 Standard NM_014861 XM_006721355 NA Approved KIAA0703, SPCA2 uc002fhx.3 O75185 ENST00000416219.2:c.2810-8C>T chr16.hg19:g.84497212C>T NA B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2 hg19 0.02 13.563207 TCCxTTG COVERED NOVEL ATP2C2-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000433405.1 0 4.922392 KEEP 0 3 99 51 1822 CC 1 1 0 + 12 60 450 0 0 28.610695 302 60 11346 470 ENST00000416219.2 0.038217 1 USP10 9100 __UNKNOWN__ __UNKNOWN__ 16 84774022 84774022 __UNKNOWN__ Intron SNP G G A rs12448489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84774022G>A ENST00000219473.7 + 3 264 USP10_ENST00000562743.1_Intron|USP10_ENST00000570191.1_Intron NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 NA NA autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 TTGGCCATACGTGCTGGGTGG 0.413 NA G||| 882 0.176118 0.0492 0.1888 5008 , , NA 20400 0.2857 NA 0.2018 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 G 286,3546 3,280,1633 99 97 98 -2.8 0 16 dbSNP_120 98 1728,6556 187,1354,2601 no intron USP10 NM_005153.2 190,1634,4234 AA,AG,GG 20.8595,7.4635,16.6226 84774022 2014,10102 1916 4142 6058 SO:0001627 intron_variant D80012 CCDS45537.1, CCDS62004.1 16q 2008-03-25 2005-08-08 ENSG00000103194 9100 Ubiquitin-specific peptidases 12608 protein-coding gene gene with protein product 609818 ubiquitin specific protease 10 NA 12838346 Standard NM_005153 NA Approved UBPO, KIAA0190 uc002fii.3 Q14694 ENST00000219473.7:c.151+47G>A chr16.hg19:g.84774022G>A NA B2RDJ8|B4DS84|Q9BWG7|Q9NSL7 hg19 CCDS45537.1 0.02 4.326109 TACxTGC COVERED NOVEL USP10-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433660.1 1 10.166105 KEEP 0 1 20 41 1421 GG 1 1 0 + 5 60 194 0 0 12.567049 126 60 4566 221 ENST00000219473.7 0.038168 1 USP10 9100 __UNKNOWN__ __UNKNOWN__ 16 84778222 84778222 __UNKNOWN__ Intron SNP G G A rs3751759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84778222G>A ENST00000219473.7 + 4 264 USP10_ENST00000562743.1_Intron|USP10_ENST00000570191.1_Intron NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 NA NA autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 TTAACTAATAGTTTTCTTTCT 0.363 NA G||| 1160 0.231629 0.0507 0.3934 5008 , , NA 16394 0.4028 NA 0.2107 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 G 298,3334 4,290,1522 29 27 28 -9 0 16 dbSNP_107 28 1789,6365 202,1385,2490 no intron USP10 NM_005153.2 206,1675,4012 AA,AG,GG 21.9402,8.2048,17.7074 84778222 2087,9699 1816 4077 5893 SO:0001627 intron_variant D80012 CCDS45537.1, CCDS62004.1 16q 2008-03-25 2005-08-08 ENSG00000103194 9100 Ubiquitin-specific peptidases 12608 protein-coding gene gene with protein product 609818 ubiquitin specific protease 10 NA 12838346 Standard NM_005153 NA Approved UBPO, KIAA0190 uc002fii.3 Q14694 ENST00000219473.7:c.152-17G>A chr16.hg19:g.84778222G>A NA B2RDJ8|B4DS84|Q9BWG7|Q9NSL7 hg19 CCDS45537.1 0.02 13.323297 ATAxTTT COVERED NOVEL USP10-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433660.1 2 27.762368 KEEP 0 2 65 115 4197 GG 1 1 0 + 10 60 381 0 0 23.404574 321 60 12305 600 ENST00000219473.7 0.030211 1 USP10 9100 __UNKNOWN__ __UNKNOWN__ 16 84796603 84796603 __UNKNOWN__ Silent SNP A A G rs12932018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84796603A>G ENST00000219473.7 + 9 1676 c.1563A>G c.(1561-1563)caA>caG p.Q521Q USP10_ENST00000570191.1_Silent_p.Q525Q NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 521 USP. NA autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 AGGGTCGACAAGAAGATGCTG 0.413 NA A||| 1315 0.26258 0.053 0.428 5008 , , NA 19120 0.4087 NA 0.2525 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 A 339,3455 5,329,1563 149 135 140 1563 -5.3 0.9 16 dbSNP_121 140 2207,6047 302,1603,2222 no coding-synonymous USP10 NM_005153.2 307,1932,3785 GG,GA,AA 26.7386,8.9352,21.1321 521/799 84796603 2546,9502 1897 4127 6024 SO:0001819 synonymous_variant D80012 CCDS45537.1, CCDS62004.1 16q 2008-03-25 2005-08-08 ENSG00000103194 9100 Ubiquitin-specific peptidases 12608 protein-coding gene gene with protein product 609818 ubiquitin specific protease 10 NA 12838346 Standard NM_005153 NA Approved UBPO, KIAA0190 uc002fii.3 Q14694 ENST00000219473.7:c.1563A>G chr16.hg19:g.84796603A>G NA B2RDJ8|B4DS84|Q9BWG7|Q9NSL7 hg19 CCDS45537.1 0.02 6.985616 ACAxGAA COVERED NOVEL USP10-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433660.1 1 6.920923 KEEP 0 0 0 23 735 AA 0.999892 0.999892 0 + 9 60 349 0 0 24.228197 148 60 5132 187 ENST00000219473.7 0.057325 1 USP10 9100 __UNKNOWN__ __UNKNOWN__ 16 84808824 84808824 __UNKNOWN__ Silent SNP C C G rs774298 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84808824C>G ENST00000219473.7 + 13 2315 c.2202C>G c.(2200-2202)ctC>ctG p.L734L USP10_ENST00000570191.1_Silent_p.L738L NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 734 USP. NA autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) p.L734L(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CCTATCGGCTCTTTGCAGGTG 0.398 NA c||| 2179 0.435104 0.3079 0.3818 5008 , , NA 20790 0.506 NA 0.6163 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1235,2437 217,801,818 74 71 72 2202 -9.5 0.8 16 dbSNP_86 72 5013,3165 1528,1957,604 no coding-synonymous USP10 NM_005153.2 1745,2758,1422 GG,GC,CC 38.7014,33.6329,47.2743 734/799 84808824 6248,5602 1836 4089 5925 SO:0001819 synonymous_variant D80012 CCDS45537.1, CCDS62004.1 16q 2008-03-25 2005-08-08 ENSG00000103194 9100 Ubiquitin-specific peptidases 12608 protein-coding gene gene with protein product 609818 ubiquitin specific protease 10 NA 12838346 Standard NM_005153 NA Approved UBPO, KIAA0190 uc002fii.3 Q14694 ENST00000219473.7:c.2202C>G chr16.hg19:g.84808824C>G NA B2RDJ8|B4DS84|Q9BWG7|Q9NSL7 hg19 CCDS45537.1 0.02 11.778007 GCTxTTT COVERED NOVEL USP10-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000433660.1 0 20.477351 KEEP 0 3 112 107 3865 CC 1 1 0 + 9 60 345 0 0 21.678807 260 60 9895 482 ENST00000219473.7 0.033457 1 CRISPLD2 83716 __UNKNOWN__ __UNKNOWN__ 16 84902353 84902353 __UNKNOWN__ Intron SNP G G A rs4782676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84902353G>A ENST00000262424.5 + 8 1077 CRISPLD2_ENST00000567845.1_Intron|CRISPLD2_ENST00000564567.1_Intron NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 NA NA extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324) extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133) heparin binding (GO:0008201) endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 AGTATAGCACGGATTGGATTG 0.547 NA g||| 952 0.190096 0.0666 0.2781 5008 , , NA 24471 0.2202 NA 0.1819 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL136861 CCDS10949.1 16q24.1 2008-02-05 2005-02-16 2005-02-16 ENSG00000103196 ENSG00000103196 83716 25248 protein-coding gene gene with protein product 612434 LCCL domain containing cysteine-rich secretory protein 2 LCRISP2 NA 11230166 Standard NM_031476 NM_031476 NA Approved DKFZP434B044 uc010voh.1 Q9H0B8 OTTHUMG00000137644 ENST00000262424.5:c.854-104G>A chr16.hg19:g.84902353G>A NA D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61 hg19 CCDS10949.1 0.02 6.472323 CACxGAT COVERED NOVEL CRISPLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269086.2 0 12.338675 KEEP 0 0 0 41 1381 GG 1 1 0 + 7 60 255 0 0 16.171881 163 60 5583 254 ENST00000262424.5 0.041176 1 CRISPLD2 83716 __UNKNOWN__ __UNKNOWN__ 16 84940525 84940525 __UNKNOWN__ 3'UTR SNP G G C rs3803632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84940525G>C ENST00000262424.5 + 0 1995 CRISPLD2_ENST00000567845.1_3'UTR NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 NA NA extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324) extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133) heparin binding (GO:0008201) endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 GATCTGAGCTGTCTCTTAAAG 0.522 NA G||| 464 0.0926518 0.0356 0.1052 5008 , , NA 17000 0.2143 NA 0.0417 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136861 CCDS10949.1 16q24.1 2008-02-05 2005-02-16 2005-02-16 ENSG00000103196 ENSG00000103196 83716 25248 protein-coding gene gene with protein product 612434 LCCL domain containing cysteine-rich secretory protein 2 LCRISP2 NA 11230166 Standard NM_031476 NM_031476 NA Approved DKFZP434B044 uc010voh.1 Q9H0B8 OTTHUMG00000137644 ENST00000262424.5:c.*277G>C chr16.hg19:g.84940525G>C NA D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61 hg19 CCDS10949.1 0.02 2.15062 GCTxTCT COVERED NOVEL CRISPLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269086.2 3 2.407567 KEEP 0 0 0 8 277 GG 0.99257 0.992133 0 + 4 60 138 0 0 8.744931 80 60 2919 95 ENST00000262424.5 0.047619 0.999559 CRISPLD2 83716 __UNKNOWN__ __UNKNOWN__ 16 84941818 84941818 __UNKNOWN__ 3'UTR SNP C C T rs3751758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:84941818C>T ENST00000262424.5 + 0 3288 NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 NA NA extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324) extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133) heparin binding (GO:0008201) endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 AAACCCACCCCTTTAAGGAGT 0.388 NA C||| 425 0.0848642 0.0038 0.1023 5008 , , NA 20219 0.2192 NA 0.0427 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL136861 CCDS10949.1 16q24.1 2008-02-05 2005-02-16 2005-02-16 ENSG00000103196 ENSG00000103196 83716 25248 protein-coding gene gene with protein product 612434 LCCL domain containing cysteine-rich secretory protein 2 LCRISP2 NA 11230166 Standard NM_031476 NM_031476 NA Approved DKFZP434B044 uc010voh.1 Q9H0B8 OTTHUMG00000137644 ENST00000262424.5:c.*1570C>T chr16.hg19:g.84941818C>T NA D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61 hg19 CCDS10949.1 0.02 6.421994 CCCxTTT COVERED NOVEL CRISPLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269086.2 2 13.242852 KEEP 0 0 0 44 1553 CC 1 1 0 + 6 60 213 0 0 13.177491 147 60 5421 215 ENST00000262424.5 0.039216 1 GSE1 23199 __UNKNOWN__ __UNKNOWN__ 16 85666645 85666645 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85666645C>A ENST00000253458.7 + 2 183 GSE1_ENST00000405402.2_Intron|GSE1_ENST00000393243.1_Intron NM_014615.2 NP_055430.1 Q14687 GSE1_HUMAN Gse1 coiled-coil protein NA NA NA GCTGTCACCACTGGCCGGGAG 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D80004 CCDS10952.1, CCDS45539.1, CCDS62007.1 16q24.1 2012-12-07 2012-12-07 2012-10-02 ENSG00000131149 ENSG00000131149 23199 28979 protein-coding gene gene with protein product genetic suppressor element 1 KIAA0182, Gse1 coiled-coil protein homolog (mouse) KIAA0182 NA 8724849, 8786132 Standard NM_014615 NM_014615 NA Approved uc002fix.4 Q14687 OTTHUMG00000137650 ENST00000253458.7:c.8-875C>A chr16.hg19:g.85666645C>A NA D3DUM4|Q8IY61|Q96GA4|Q9BW09 hg19 CCDS10952.1 0.02 -0.377236 CCAxTGG COVERED NOVEL GSE1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325527.1 0 9.029786 KEEP 0 0 0 30 1097 CC 0.999997 0.909066 0 + 3 60 100 0 0 6.742101 39 60 1442 102 ENST00000253458.7 0.071429 0.909069 GSE1 23199 __UNKNOWN__ __UNKNOWN__ 16 85706564 85706564 __UNKNOWN__ 3'UTR SNP G G A rs709805 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85706564G>A ENST00000253458.7 + 0 4249 GSE1_ENST00000405402.2_3'UTR|GSE1_ENST00000393243.1_3'UTR NM_014615.2 NP_055430.1 Q14687 GSE1_HUMAN Gse1 coiled-coil protein NA NA NA TGCTTTTGCCGCAGCGATGGG 0.463 NA G||| 788 0.157348 0.0386 0.2075 5008 , , NA 18671 0.1984 NA 0.2763 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D80004 CCDS10952.1, CCDS45539.1, CCDS62007.1 16q24.1 2012-12-07 2012-12-07 2012-10-02 ENSG00000131149 ENSG00000131149 23199 28979 protein-coding gene gene with protein product genetic suppressor element 1 KIAA0182, Gse1 coiled-coil protein homolog (mouse) KIAA0182 NA 8724849, 8786132 Standard NM_014615 NM_014615 NA Approved uc002fix.4 Q14687 OTTHUMG00000137650 ENST00000253458.7:c.*419G>A chr16.hg19:g.85706564G>A NA D3DUM4|Q8IY61|Q96GA4|Q9BW09 hg19 CCDS10952.1 0.02 5.911071 GCCxCAG COVERED NOVEL GSE1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325527.1 0 21.668513 KEEP 0 0 0 72 2466 GG 1 1 0 + 7 60 249 0 0 15.073586 193 60 6865 333 ENST00000253458.7 0.035 1 GSE1 23199 __UNKNOWN__ __UNKNOWN__ 16 85706633 85706633 __UNKNOWN__ 3'UTR SNP T T C rs1049868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85706633T>C ENST00000253458.7 + 0 4318 GSE1_ENST00000405402.2_3'UTR|GSE1_ENST00000393243.1_3'UTR NM_014615.2 NP_055430.1 Q14687 GSE1_HUMAN Gse1 coiled-coil protein NA NA NA TTGGGTGCATTGTCAGTAAAA 0.453 NA T||| 1537 0.306909 0.2383 0.2824 5008 , , NA 18691 0.4157 NA 0.2942 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D80004 CCDS10952.1, CCDS45539.1, CCDS62007.1 16q24.1 2012-12-07 2012-12-07 2012-10-02 ENSG00000131149 ENSG00000131149 23199 28979 protein-coding gene gene with protein product genetic suppressor element 1 KIAA0182, Gse1 coiled-coil protein homolog (mouse) KIAA0182 NA 8724849, 8786132 Standard NM_014615 NM_014615 NA Approved uc002fix.4 Q14687 OTTHUMG00000137650 ENST00000253458.7:c.*488T>C chr16.hg19:g.85706633T>C NA D3DUM4|Q8IY61|Q96GA4|Q9BW09 hg19 CCDS10952.1 0.02 6.886357 CATxGTC COVERED NOVEL GSE1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325527.1 2 18.955356 KEEP 0 0 0 63 1954 TT 1 1 0 + 7 60 251 0 0 16.01989 150 60 5509 263 ENST00000253458.7 0.044586 1 GSE1 23199 __UNKNOWN__ __UNKNOWN__ 16 85709316 85709316 __UNKNOWN__ 3'UTR SNP A A G rs11865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85709316A>G ENST00000253458.7 + 0 7001 GSE1_ENST00000393243.1_3'UTR NM_014615.2 NP_055430.1 Q14687 GSE1_HUMAN Gse1 coiled-coil protein NA NA NA CCTGAGCCACATGTTTCACAC 0.418 NA G||| 1962 0.391773 0.4992 0.3127 5008 , , NA 22603 0.4435 NA 0.3131 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D80004 CCDS10952.1, CCDS45539.1, CCDS62007.1 16q24.1 2012-12-07 2012-12-07 2012-10-02 ENSG00000131149 ENSG00000131149 23199 28979 protein-coding gene gene with protein product genetic suppressor element 1 KIAA0182, Gse1 coiled-coil protein homolog (mouse) KIAA0182 NA 8724849, 8786132 Standard NM_014615 NM_014615 NA Approved uc002fix.4 Q14687 OTTHUMG00000137650 ENST00000253458.7:c.*3171A>G chr16.hg19:g.85709316A>G NA D3DUM4|Q8IY61|Q96GA4|Q9BW09 hg19 CCDS10952.1 0.02 4.065106 CACxTGT COVERED NOVEL GSE1-002 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000325527.1 1 17.152035 KEEP 0 0 0 57 1827 AA 1 1 0 + 5 60 178 0 0 10.855176 133 60 4929 259 ENST00000253458.7 0.036232 1 GINS2 51659 __UNKNOWN__ __UNKNOWN__ 16 85722355 85722355 __UNKNOWN__ Intron SNP G G T rs2303204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85722355G>T ENST00000253462.3 - 1 191 NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) NA NA DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278) nucleoplasm (GO:0005654) endometrium(2)|large_intestine(2)|lung(2) 6 TGAAGGCCACGCGGGAGCCCC 0.716 NA G||| 721 0.14397 0.0151 0.1758 5008 , , NA 9819 0.1389 NA 0.2942 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003186 CCDS10953.1 16q24.1 2008-02-05 ENSG00000131153 ENSG00000131153 51659 24575 protein-coding gene gene with protein product 610609 NA 11042152, 10810093 Standard NM_016095 NM_016095 NA Approved PSF2, Pfs2 uc002fja.3 Q9Y248 OTTHUMG00000137646 ENST00000253462.3:c.90+59C>A chr16.hg19:g.85722355G>T NA D3DUM5|Q6IAG9 hg19 CCDS10953.1 0.02 2.229625 CACxCGG COVERED NOVEL GINS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269098.1 0 8.125335 KEEP 0 0 0 27 898 GG 0.999988 0.998453 0 - 5 60 192 0 0 13.609671 70 60 2217 113 ENST00000253462.3 0.066667 0.998465 GINS2 51659 __UNKNOWN__ __UNKNOWN__ 16 85722356 85722356 __UNKNOWN__ Intron SNP C C T rs2303205 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85722356C>T ENST00000253462.3 - 1 191 NM_016095.2 NP_057179.1 Q9Y248 PSF2_HUMAN GINS complex subunit 2 (Psf2 homolog) NA NA DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278) nucleoplasm (GO:0005654) endometrium(2)|large_intestine(2)|lung(2) 6 GAAGGCCACGCGGGAGCCCCG 0.716 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC003186 CCDS10953.1 16q24.1 2008-02-05 ENSG00000131153 ENSG00000131153 51659 24575 protein-coding gene gene with protein product 610609 NA 11042152, 10810093 Standard NM_016095 NM_016095 NA Approved PSF2, Pfs2 uc002fja.3 Q9Y248 OTTHUMG00000137646 ENST00000253462.3:c.90+58G>A chr16.hg19:g.85722356C>T NA D3DUM5|Q6IAG9 hg19 CCDS10953.1 0.02 2.003509 ACGxGGG COVERED NOVEL GINS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269098.1 0 8.427006 KEEP 0 0 0 28 977 CC 0.999997 0.99899 0 - 5 60 186 0 0 12.921703 73 60 2650 118 ENST00000253462.3 0.064103 0.998993 IRF8 3394 __UNKNOWN__ __UNKNOWN__ 16 85953682 85953682 __UNKNOWN__ Intron SNP G G C rs16940005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:85953682G>C ENST00000268638.5 + 8 1410 IRF8_ENST00000562492.1_Intron NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 NA NA cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|nucleus (GO:0005634) regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) TCTCGGCCTTGCTTGCAAACA 0.597 NA G||| 603 0.120407 0.0166 0.1081 5008 , , NA 15796 0.2133 NA 0.17 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 G 169,4227 109.9+/-148.2 6,157,2035 42 37 39 -6.7 0 16 dbSNP_123 39 1404,7196 258.0+/-281.8 123,1158,3019 no intron IRF8 NM_002163.2 129,1315,5054 CC,CG,GG 16.3256,3.8444,12.1037 85953682 1573,11423 2198 4300 6498 SO:0001627 intron_variant M91196 CCDS10956.1 16q24.1 2014-09-17 2004-11-12 2004-11-12 ENSG00000140968 ENSG00000140968 3394 5358 protein-coding gene gene with protein product 601565 interferon consensus sequence binding protein 1 ICSBP1 NA 1460054, 11997525 Standard NM_002163 NM_002163 NA Approved IRF-8, ICSBP uc002fjh.3 Q02556 OTTHUMG00000137648 ENST00000268638.5:c.989-33G>C chr16.hg19:g.85953682G>C NA A0AV82 hg19 CCDS10956.1 0.02 9.542087 CTTxCTT COVERED NOVEL IRF8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269100.2 2 12.039231 KEEP 0 0 0 40 1433 GG 1 1 0 + 11 60 417 0 0 27.794248 218 60 8202 330 ENST00000268638.5 0.048035 1 FOXF1 2294 __UNKNOWN__ __UNKNOWN__ 16 86547063 86547063 __UNKNOWN__ 3'UTR SNP G G A rs74657925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:86547063G>A ENST00000262426.4 + 0 1555 NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 NA NA blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 CAGAAGTGGGGGAAAATTTTT 0.418 NA G||| 130 0.0259585 0.0 0.0043 5008 , , NA 16532 0.1171 NA 0.007 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U13219 CCDS10957.2 16q24 2008-02-05 ENSG00000103241 ENSG00000103241 2294 Forkhead boxes 3809 protein-coding gene gene with protein product 601089 FKHL5 NA 8825632, 7957066 Standard NM_001451 NM_001451 NA Approved FREAC1 uc002fjl.3 Q12946 OTTHUMG00000137651 ENST00000262426.4:c.*372G>A chr16.hg19:g.86547063G>A NA B2RAF4|Q5FWE5 hg19 CCDS10957.2 0.02 4.410547 GGGxGAA COVERED NOVEL FOXF1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000269103.2 0 5.718768 KEEP 0 0 0 19 683 GG 0.99986 0.999852 0 + 5 60 189 0 0 12.454618 105 60 3835 161 ENST00000262426.4 0.045455 0.999993 C16orf95 100506581 __UNKNOWN__ __UNKNOWN__ 16 87126066 87126066 __UNKNOWN__ Intron SNP G G A rs8063607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87126066G>A ENST00000562840.1 - 5 1305 Q9H693 CP095_HUMAN chromosome 16 open reading frame 95 NA NA NA ggtggatcacgaggtcaggag 0.552 NA G||| 1534 0.30631 0.1422 0.3213 5008 , , NA 12693 0.3552 NA 0.3926 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS54049.1, CCDS58491.1, CCDS73921.1 16q24.2 2012-10-10 ENSG00000260456 ENSG00000260456 100506581 40033 protein-coding gene gene with protein product NA Standard NM_001195124 NM_001195124 NA Approved uc021tmh.1 Q9H693 OTTHUMG00000175680 ENST00000562840.1:c.346-8554C>T chr16.hg19:g.87126066G>A NA hg19 0.02 -0.026319 CACxAGG UNCOVERED NOVEL C16orf95-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000430786.1 5 2.407099 KEEP 5 0 0 8 246 GT 0 0 0 - 3 60 107 0 0 12.130926 0 0 0 14 ENST00000562840.1 1 0 ZCCHC14 23174 __UNKNOWN__ __UNKNOWN__ 16 87446368 87446368 __UNKNOWN__ Silent SNP C C T rs2241615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87446368C>T ENST00000268616.4 - 12 1765 c.1548G>A c.(1546-1548)ccG>ccA p.P516P NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 516 NA nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TCCCTCTTTCCGGCTTGTGCA 0.557 NA C||| 973 0.194289 0.1195 0.2392 5008 , , NA 20712 0.4256 NA 0.1193 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 C 514,3882 236.5+/-248.6 30,454,1714 72 73 73 1548 -5.2 0 16 dbSNP_98 73 973,7627 212.0+/-252.4 58,857,3385 no coding-synonymous ZCCHC14 NM_015144.2 88,1311,5099 TT,TC,CC 11.314,11.6924,11.442 516/950 87446368 1487,11509 2198 4300 6498 SO:0001819 synonymous_variant AB011151 CCDS10961.1 16q24.2 2013-01-10 ENSG00000140948 ENSG00000140948 23174 Zinc fingers, CCHC domain containing, Sterile alpha motif (SAM) domain containing 24134 protein-coding gene gene with protein product NA 9628581 Standard NM_015144 XM_005255858 NA Approved BDG29, MGC14139 uc002fjz.1 Q8WYQ9 OTTHUMG00000137655 ENST00000268616.4:c.1548G>A chr16.hg19:g.87446368C>T NA D3DUN1|O60324|Q3MJD8|Q9UFP0 hg19 CCDS10961.1 0.02 17.244365 TTCxGGC COVERED NOVEL ZCCHC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269107.1 0 23.775779 KEEP 0 0 0 79 2718 CC 1 1 0 - 16 60 594 0 0 37.230713 422 60 14456 605 ENST00000268616.4 0.03653 1 ZCCHC14 23174 __UNKNOWN__ __UNKNOWN__ 16 87493737 87493737 __UNKNOWN__ Splice_Site SNP T T C rs11648852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87493737T>C ENST00000268616.4 - 2 377 c.160A>G c.(160-162)Atc>Gtc p.I54V NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 54 NA I -> V (in dbSNP:rs11648852). nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) CTTGGAGTGATCTGAGGGAAC 0.438 NA T||| 637 0.127196 0.0666 0.1182 5008 , , NA 17397 0.2272 NA 0.1183 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 T VAL/ILE 406,3990 199.8+/-223.2 14,378,1806 113 109 110 160 -3 0 16 dbSNP_120 110 1110,7490 230.7+/-264.9 78,954,3268 yes missense-near-splice ZCCHC14 NM_015144.2 29 92,1332,5074 CC,CT,TT 12.907,9.2357,11.6651 benign 54/950 87493737 1516,11480 2198 4300 6498 SO:0001630 splice_region_variant AB011151 CCDS10961.1 16q24.2 2013-01-10 ENSG00000140948 ENSG00000140948 23174 Zinc fingers, CCHC domain containing, Sterile alpha motif (SAM) domain containing 24134 protein-coding gene gene with protein product NA 9628581 Standard NM_015144 XM_005255858 NA Approved BDG29, MGC14139 uc002fjz.1 Q8WYQ9 OTTHUMG00000137655 ENST00000268616.4:c.160-1A>G chr16.hg19:g.87493737T>C NA D3DUN1|O60324|Q3MJD8|Q9UFP0 hg19 CCDS10961.1 0.02 12.870882 TGAxCTG COVERED 321 0.14697802197802198 36 0.07317073170731707 50 0.13812154696132597 139 0.243006993006993 96 0.1266490765171504 T 0.041 -1.284746 0.01398 0.092357 0.12907 ENSG00000140948 ENST00000268616 T 0.15372 2.43 5.01 -3.02 0.05446 . 1.071750 0.07100 N 0.840201 T 0.00012 0.0000 N 0.00436 -1.5 0.58432 P 1.0000000000287557E-6 B 0.09022 0.002 B 0.06405 0.002 T 0.48068 -0.9067 9 0.14656 T 0.56 -10.8316 13.4733 0.61292 0.0:0.6866:0.0:0.3134 rs11648852;rs52791527;rs59463424;rs11648852 54 Q8WYQ9 ZCH14_HUMAN V 54 ENSP00000268616:I54V ENSP00000268616:I54V I - 1 0 ZCCHC14 86051238 0.967000 0.33354 0.020000 0.16555 0.005000 0.04900 0.450000 0.21762 -0.381000 0.07882 -0.290000 0.09829 ATC NOVEL ZCCHC14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269107.1 3 20.462787 KEEP 0 1 31 79 2536 TT 1 1 0 Missense_Mutation - 9 60 332 0 0 19.909522 294 60 10760 493 ENST00000268616.4 0.029703 1 KLHDC4 54758 __UNKNOWN__ __UNKNOWN__ 16 87744756 87744756 __UNKNOWN__ Intron SNP A A C rs60382083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87744756A>C ENST00000270583.5 - 9 1103 KLHDC4_ENST00000566349.1_Intron|KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Intron NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 NA NA breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) CCCCAATACCAAAAGGTGCTG 0.607 NA C||| 619 0.123602 0.0454 0.0951 5008 , , NA 18601 0.1766 NA 0.0855 False NA ,,, NA NA NA 2504 0.2342 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001742 CCDS10963.1, CCDS54050.1, CCDS54051.1 16q24 2008-02-05 ENSG00000104731 ENSG00000104731 54758 25272 protein-coding gene gene with protein product NA Standard NM_017566 NM_001184854 NA Approved DKFZp434G0522 uc002fki.3 Q8TBB5 OTTHUMG00000137657 ENST00000270583.5:c.1044+84T>G chr16.hg19:g.87744756A>C NA D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3 hg19 CCDS10963.1 0.02 5.807103 ACCxAAA COVERED NOVEL KLHDC4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000269109.2 2 2.707279 KEEP 0 0 0 9 268 AA 0.99254 0.99254 0 - 8 60 275 0 0 16.96031 180 60 6580 204 ENST00000270583.5 0.042553 1 SLC7A5 8140 __UNKNOWN__ __UNKNOWN__ 16 87864475 87864475 __UNKNOWN__ 3'UTR SNP G G C rs1060266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87864475G>C ENST00000261622.4 - 0 3690 SLC7A5_ENST00000565644.1_3'UTR NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) GCATGTCCACGTCCCAGAGCA 0.692 NA C||| 1843 0.368011 0.3654 0.4928 5008 , , NA 18307 0.5149 NA 0.2694 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140 CD molecules, Solute carriers 11063 protein-coding gene gene with protein product 600182 NA 9751058, 7829099 Standard NM_003486 XM_006721286 NA Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.*2101C>G chr16.hg19:g.87864475G>C NA Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 hg19 CCDS10964.1 0.02 16.053978 CACxTCC COVERED NOVEL SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269110.2 2 27.382663 KEEP 0 0 0 91 3009 GG 1 1 0 - 10 60 386 0 0 23.274715 372 60 12981 573 ENST00000261622.4 0.026178 1 SLC7A5 8140 __UNKNOWN__ __UNKNOWN__ 16 87865022 87865022 __UNKNOWN__ 3'UTR SNP C C T rs1060258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87865022C>T ENST00000261622.4 - 0 3143 SLC7A5_ENST00000565644.1_3'UTR NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) GGTGCCCAGGCGGGGGCGGCA 0.642 NA C||| 1962 0.391773 0.4138 0.4813 5008 , , NA 16729 0.5794 NA 0.2624 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140 CD molecules, Solute carriers 11063 protein-coding gene gene with protein product 600182 NA 9751058, 7829099 Standard NM_003486 XM_006721286 NA Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.*1554G>A chr16.hg19:g.87865022C>T NA Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 hg19 CCDS10964.1 0.02 12.78391 AGGxGGG COVERED NOVEL SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269110.2 1 9.898936 KEEP 0 2 54 52 1788 CC 1 1 0 - 21 60 724 0 0 48.994801 292 60 10090 434 ENST00000261622.4 0.067093 1 SLC7A5 8140 __UNKNOWN__ __UNKNOWN__ 16 87866138 87866138 __UNKNOWN__ 3'UTR SNP G G C rs1060253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87866138G>C ENST00000261622.4 - 0 2027 SLC7A5_ENST00000565644.1_3'UTR NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) GCAAGTCTGTGGTAGCAATGA 0.552 NA G||| 1512 0.301917 0.112 0.4496 5008 , , NA 14919 0.5794 NA 0.2584 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140 CD molecules, Solute carriers 11063 protein-coding gene gene with protein product 600182 NA 9751058, 7829099 Standard NM_003486 XM_006721286 NA Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.*438C>G chr16.hg19:g.87866138G>C NA Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 hg19 CCDS10964.1 0.02 12.289426 TGTxGTA COVERED NOVEL SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269110.2 2 11.136523 KEEP 0 0 0 37 1327 GG 1 1 0 - 16 60 556 0 0 36.67909 263 60 9980 411 ENST00000261622.4 0.057348 1 SLC7A5 8140 __UNKNOWN__ __UNKNOWN__ 16 87873247 87873247 __UNKNOWN__ Intron SNP A A C rs750950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:87873247A>C ENST00000261622.4 - 5 1005 SLC7A5_ENST00000565644.1_Intron NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042) TCCGGTCTGGAAGGGACGGGC 0.692 NA A||| 2376 0.474441 0.3548 0.5245 5008 , , NA 16154 0.7966 NA 0.3539 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF077866 CCDS10964.1 16q24.3 2013-05-22 2011-07-12 ENSG00000103257 ENSG00000103257 8140 CD molecules, Solute carriers 11063 protein-coding gene gene with protein product 600182 NA 9751058, 7829099 Standard NM_003486 XM_006721286 NA Approved LAT1, E16, D16S469E, MPE16, CD98 uc002fkm.3 Q01650 OTTHUMG00000137658 ENST00000261622.4:c.939+60T>G chr16.hg19:g.87873247A>C NA Q8IV97|Q9UBN8|Q9UP15|Q9UQC0 hg19 CCDS10964.1 0.02 1.99904 TGGxAGG COVERED NOVEL SLC7A5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269110.2 3 3.006528 KEEP 0 0 0 10 309 AA 0.992708 0.972383 0 - 4 60 142 0 0 9.860207 52 60 1686 70 ENST00000261622.4 0.071429 0.979526 BANP 54971 __UNKNOWN__ __UNKNOWN__ 16 88017809 88017809 __UNKNOWN__ Silent SNP C C T rs3815820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88017809C>T ENST00000393207.1 + 4 503 c.282C>T c.(280-282)gtC>gtT p.V94V BANP_ENST00000538234.1_Silent_p.V102V|BANP_ENST00000393208.2_Silent_p.V102V|BANP_ENST00000355163.5_Silent_p.V108V|BANP_ENST00000355022.4_Silent_p.V102V|BANP_ENST00000479780.2_Silent_p.V102V|BANP_ENST00000286122.7_Silent_p.V94V NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein 94 NA cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) CCATCCAGGTCCCCATGGTGG 0.562 NA T||| 2941 0.58726 0.7496 0.7017 5008 , , NA 19107 0.5218 NA 0.6133 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 18 17 17 NA NA 16 NA 88017809 2197 4299 6496 SO:0001819 synonymous_variant AK094158 CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1 16q24 2012-11-22 ENSG00000172530 ENSG00000172530 54971 BEN domain containing 13450 protein-coding gene gene with protein product BEN domain containing 1 611564 NA 10940556, 10950932 Standard NM_017869 NM_017869 NA Approved SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1 uc010vow.2 Q8N9N5 OTTHUMG00000137678 ENST00000393207.1:c.282C>T chr16.hg19:g.88017809C>T NA A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1 hg19 CCDS54054.1 0.02 6.551863 GGTxCCC COVERED NOVEL BANP-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000269166.1 0 29.686001 KEEP 0 0 0 99 3400 CC 1 1 0 + 6 60 224 0 0 13.805024 177 60 6485 379 ENST00000393207.1 0.032787 1 ZNF469 84627 __UNKNOWN__ __UNKNOWN__ 16 88498312 88498312 __UNKNOWN__ Silent SNP C C T rs74032865 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88498312C>T ENST00000565624.1 + 1 4434 c.4434C>T c.(4432-4434)tcC>tcT p.S1478S ZNF469_ENST00000437464.1_Silent_p.S1450S Q96JG9 ZN469_HUMAN zinc finger protein 469 1450 Pro-rich. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6) 20 ACAGGGACTCCGGTCTGCCGT 0.612 NA C||| 170 0.0339457 0.0673 0.0115 5008 , , NA 16828 0.0486 NA 0.0129 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C 59,1325 1,57,634 80 66 70 4350 -1.7 0 16 dbSNP_130 70 46,3136 0,46,1545 no coding-synonymous ZNF469 NM_001127464.1 1,103,2179 TT,TC,CC 1.4456,4.263,2.2996 1450/3926 88498312 105,4461 692 1591 2283 SO:0001819 synonymous_variant AB058761 CCDS45544.1 16q24 2010-08-04 ENSG00000225614 84627 Zinc fingers, C2H2-type 23216 protein-coding gene gene with protein product 612078 NA 11347906 Standard NG_012236 NM_001127464 NA Approved KIAA1858 uc002fku.2 Q96JG9 ENST00000565624.1:c.4434C>T chr16.hg19:g.88498312C>T NA hg19 0.02 28.047707 CTCxGGT COVERED NOVEL ZNF469-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000423023.2 2 37.315461 KEEP 0 0 0 124 4269 CC 1 1 0 + 24 60 862 0 0 52.553365 659 60 22744 982 ENST00000565624.1 0.035139 1 ZNF469 84627 __UNKNOWN__ __UNKNOWN__ 16 88502090 88502090 __UNKNOWN__ Missense_Mutation SNP G G A rs3812955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88502090G>A ENST00000565624.1 + 1 8212 c.8212G>A c.(8212-8214)Gca>Aca p.A2738T ZNF469_ENST00000437464.1_Missense_Mutation_p.A2710T Q96JG9 ZN469_HUMAN zinc finger protein 469 2710 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6) 20 GATGGATGGTGCAGCTCTGGG 0.632 NA G||| 183 0.0365415 0.0756 0.013 5008 , , NA 16503 0.0476 NA 0.0129 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 G THR/ALA 73,1311 2,69,621 57 67 64 8128 2.6 0 16 dbSNP_107 64 45,3137 0,45,1546 yes missense ZNF469 NM_001127464.1 58 2,114,2167 AA,AG,GG 1.4142,5.2746,2.5843 benign 2710/3926 88502090 118,4448 692 1591 2283 SO:0001583 missense AB058761 CCDS45544.1 16q24 2010-08-04 ENSG00000225614 84627 Zinc fingers, C2H2-type 23216 protein-coding gene gene with protein product 612078 NA 11347906 Standard NG_012236 NM_001127464 NA Approved KIAA1858 uc002fku.2 Q96JG9 ENST00000565624.1:c.8212G>A chr16.hg19:g.88502090G>A ENSP00000456500:p.Ala2738Thr NA hg19 0.02 10.004516 GGTxCAG COVERED 86 0.039377289377289376 39 0.07926829268292683 7 0.019337016574585635 30 0.05244755244755245 10 0.013192612137203167 G 8.992 0.977903 0.18812 0.052746 0.014142 ENSG00000225614 ENST00000437464 T 0.06294 3.32 4.56 2.59 0.31030 . . . . . T 0.00178 0.0005 N 0.03608 -0.345 0.09310 N 1 B 0.11235 0.004 B 0.09377 0.004 T 0.48937 -0.8990 9 0.29301 T 0.29 . 6.6294 0.22849 0.1281:0.4519:0.42:0.0 rs3812955;rs3812955 2710 Q96JG9 ZN469_HUMAN T 2710 ENSP00000402343:A2710T ENSP00000402343:A2710T A + 1 0 ZNF469 87029591 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 0.096000 0.15147 0.348000 0.23949 -0.254000 0.11334 GCA NOVEL ZNF469-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000423023.2 3 12.915172 KEEP 0 0 0 43 1498 GG 1 1 0 + 10 60 353 0 0 21.382625 268 60 9878 396 ENST00000565624.1 0.035971 1 ZNF469 84627 __UNKNOWN__ __UNKNOWN__ 16 88504853 88504853 __UNKNOWN__ Missense_Mutation SNP G G A rs3812951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88504853G>A ENST00000565624.1 + 1 10975 c.10975G>A c.(10975-10977)Ggg>Agg p.G3659R ZNF469_ENST00000437464.1_Missense_Mutation_p.G3631R Q96JG9 ZN469_HUMAN zinc finger protein 469 3631 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6) 20 GGTGTCTGAGGGGGGGCCCCG 0.642 NA G||| 144 0.028754 0.0696 0.0115 5008 , , NA 13952 0.0248 NA 0.006 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 7 11 10 NA NA 16 NA 88504853 683 1577 2260 SO:0001583 missense AB058761 CCDS45544.1 16q24 2010-08-04 ENSG00000225614 84627 Zinc fingers, C2H2-type 23216 protein-coding gene gene with protein product 612078 NA 11347906 Standard NG_012236 NM_001127464 NA Approved KIAA1858 uc002fku.2 Q96JG9 ENST00000565624.1:c.10975G>A chr16.hg19:g.88504853G>A ENSP00000456500:p.Gly3659Arg NA hg19 0.02 10.674936 GAGxGGG COVERED 70 0.03205128205128205 44 0.08943089430894309 6 0.016574585635359115 13 0.022727272727272728 7 0.009234828496042216 G 8.104 0.777196 0.16120 . . ENSG00000225614 ENST00000437464 T 0.09911 2.93 4.65 -2.03 0.07365 . . . . . T 0.00241 0.0007 N 0.24115 0.695 0.09310 N 1 B 0.06786 0.001 B 0.06405 0.002 T 0.42799 -0.9430 9 0.87932 D 0 -1.5251 1.5079 0.02490 0.3156:0.1403:0.4013:0.1428 rs3812951 3631 Q96JG9 ZN469_HUMAN R 3631 ENSP00000402343:G3631R ENSP00000402343:G3631R G + 1 0 ZNF469 87032354 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -0.146000 0.10250 0.089000 0.17243 -0.219000 0.12488 GGG NOVEL ZNF469-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000423023.2 2 22.571957 KEEP 0 0 0 75 2606 GG 1 1 0 + 11 60 396 0 0 24.717247 269 60 9743 419 ENST00000565624.1 0.039286 1 ZNF469 84627 __UNKNOWN__ __UNKNOWN__ 16 88505786 88505786 __UNKNOWN__ 3'UTR SNP C C A rs78600508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88505786C>A ENST00000565624.1 + 0 11908 ZNF469_ENST00000437464.1_3'UTR Q96JG9 ZN469_HUMAN zinc finger protein 469 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6) 20 GTTCCTGTCTCGGCCTGCCTC 0.557 NA A||| 377 0.0752796 0.0287 0.0605 5008 , , NA 18633 0.124 NA 0.0875 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 A 39,1339 0,39,650 7 8 8 0.4 0 16 dbSNP_131 8 302,2864 17,268,1298 no utr-3 ZNF469 NM_001127464.1 17,307,1948 AA,AC,CC 9.5389,2.8302,7.5044 88505786 341,4203 689 1583 2272 SO:0001624 3_prime_UTR_variant AB058761 CCDS45544.1 16q24 2010-08-04 ENSG00000225614 84627 Zinc fingers, C2H2-type 23216 protein-coding gene gene with protein product 612078 NA 11347906 Standard NG_012236 NM_001127464 NA Approved KIAA1858 uc002fku.2 Q96JG9 ENST00000565624.1:c.*46C>A chr16.hg19:g.88505786C>A NA hg19 0.02 2.059519 TCTxGGC COVERED NOVEL ZNF469-001 NOVEL basic protein_coding NA protein_coding OTTHUMT00000423023.2 0 4.814122 KEEP 0 0 0 16 529 CC 0.997832 0.99732 0 + 4 60 155 0 0 10.469088 78 60 2615 111 ENST00000565624.1 0.04878 0.999487 ZFPM1 161882 __UNKNOWN__ __UNKNOWN__ 16 88594567 88594567 __UNKNOWN__ Silent SNP C C T rs35121729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88594567C>T ENST00000319555.3 + 6 955 c.633C>T c.(631-633)tgC>tgT p.C211C RP11-21B21.4_ENST00000563243.1_RNA NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 211 NA atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134) central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) AGCCCACGTGCCCGGCCCCTG 0.697 NA c||| 633 0.126398 0.0098 0.1326 5008 , , NA 14718 0.3591 NA 0.0905 False NA ,,, NA NA NA 2504 0.0767 NA NA NA Pancreas(49;850 1106 29641 32847 38344) NA 0 C 84,4268 1,82,2093 18 21 20 633 4.1 0 16 dbSNP_126 20 684,7898 23,638,3630 no coding-synonymous ZFPM1 NM_153813.2 24,720,5723 TT,TC,CC 7.9702,1.9301,5.9378 211/1007 88594567 768,12166 2176 4291 6467 SO:0001819 synonymous_variant AF488691 CCDS32502.1 16q24.2 2013-01-10 2012-11-27 ENSG00000179588 ENSG00000179588 161882 Zinc fingers, C2H2-type, Zinc fingers, C2HC-type containing 19762 protein-coding gene gene with protein product 601950 zinc finger protein, multitype 1 NA Standard NM_153813 NA Approved FOG1, FOG, ZNF89A, ZC2HC11A uc002fkv.3 Q8IX07 OTTHUMG00000173152 ENST00000319555.3:c.633C>T chr16.hg19:g.88594567C>T NA hg19 CCDS32502.1 0.02 -0.342134 GTGxCCG COVERED NOVEL ZFPM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422270.2 0 12.941973 KEEP 0 0 0 43 1539 CC 1 0.865745 0 + 3 60 104 0 0 7.240382 36 60 1326 107 ENST00000319555.3 0.076923 0.865745 ZFPM1 161882 __UNKNOWN__ __UNKNOWN__ 16 88599023 88599023 __UNKNOWN__ Splice_Site SNP A A G rs56041036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88599023A>G ENST00000319555.3 + 8 1270 c.948A>G c.(946-948)ggA>ggG p.G316G NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 316 NA atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134) central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) GTGTTCCAGGAGAGCGGCCCT 0.662 NA a||| 741 0.147963 0.0741 0.1484 5008 , , NA 16600 0.3591 NA 0.0974 False NA ,,, NA NA NA 2504 0.0818 NA NA NA Pancreas(49;850 1106 29641 32847 38344) NA 0 A 345,4013 17,311,1851 29 27 28 948 0.6 1 16 dbSNP_129 28 652,7914 21,610,3652 yes coding-synonymous-near-splice ZFPM1 NM_153813.2 38,921,5503 GG,GA,AA 7.6115,7.9165,7.7143 316/1007 88599023 997,11927 2179 4283 6462 SO:0001630 splice_region_variant AF488691 CCDS32502.1 16q24.2 2013-01-10 2012-11-27 ENSG00000179588 ENSG00000179588 161882 Zinc fingers, C2H2-type, Zinc fingers, C2HC-type containing 19762 protein-coding gene gene with protein product 601950 zinc finger protein, multitype 1 NA Standard NM_153813 NA Approved FOG1, FOG, ZNF89A, ZC2HC11A uc002fkv.3 Q8IX07 OTTHUMG00000173152 ENST00000319555.3:c.947-1A>G chr16.hg19:g.88599023A>G NA hg19 CCDS32502.1 0.02 9.06964 AGGxGAG COVERED NOVEL ZFPM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422270.2 1 32.667145 KEEP 0 2 67 132 4161 AA 1 1 0 Silent + 11 60 401 0 0 26.261169 215 60 7899 466 ENST00000319555.3 0.048673 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 88633052 88633052 __UNKNOWN__ IGR SNP G G C rs56983565 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88633052G>C NA NA ZFPM1 (29628 upstream) : ZC3H18 (3736 downstream) NA NA NA caagaacgctggcaggctaag 0.522 NA C||| 1763 0.352037 0.2368 0.3516 5008 , , NA 19967 0.3671 NA 0.4662 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 C 721,1923 105,511,706 90 79 83 0.2 0 16 dbSNP_129 83 2050,2568 453,1144,712 no intergenic 558,1655,1418 CC,CG,GG 44.3915,27.2693,38.1575 88633052 2771,4491 1322 2309 3631 SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.88633052G>C NA hg19 0.02 9.81655 GCTxGCA COVERED 840 0.38461538461538464 151 0.30691056910569103 151 0.4171270718232044 201 0.3513986013986014 337 0.4445910290237467 C 1.262 -0.615640 0.03663 0.272693 0.443915 ENSG00000205036 ENST00000378416 . . . 0.225 0.225 0.15325 . . . . . T 0.00012 0.0000 . . . . . . B 0.02656 0.0 B 0.01281 0.0 T 0.40496 -0.9560 5 0.87932 D 0 . . . . rs56983565;rs62050266 25 Q6ZSH3 CP085_HUMAN R 25 . ENSP00000367672:P25R P - 2 0 C16orf85 87160553 0.000000 0.05858 0.001000 0.08648 0.001000 0.01503 -1.689000 0.01923 -0.685000 0.05177 -0.676000 0.03789 CCA NOVEL 0 0 6.394025 KEEP 0 2 74 47 1679 GG 1 1 0 11 60 412 0 0 27.740283 198 60 7481 315 0.052632 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 88729578 88729578 __UNKNOWN__ IGR SNP G G C rs3794626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88729578G>C NA NA MVD (60 upstream) : SNAI3-AS1 (127 downstream) NA NA NA CGCTACCACAGGATTGGCCCG 0.692 NA G||| 151 0.0301518 0.0454 0.0101 5008 , , NA 14484 0.0516 NA 0.0 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.88729578G>C NA hg19 0.02 11.838231 ACAxGAT COVERED NOVEL 0 1 54.777775 KEEP 0 0 0 182 6577 GG 1 1 0 10 60 334 0 0 19.074885 296 60 11226 628 0.03268 1 RNF166 115992 __UNKNOWN__ __UNKNOWN__ 16 88772815 88772815 __UNKNOWN__ 5'UTR SNP C C T rs880233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88772815C>T ENST00000312838.4 - 0 14 NM_178841.3 NP_849163.1 Q96A37 RN166_HUMAN ring finger protein 166 NA NA zinc ion binding (GO:0008270) endometrium(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) CTGCGCCGCGCTGACGTCATC 0.781 NA C||| 1727 0.344848 0.1944 0.3429 5008 , , NA 7589 0.7222 NA 0.1918 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK057106 CCDS10969.1, CCDS54056.1, CCDS54057.1 16q24.3 2013-01-09 ENSG00000158717 ENSG00000158717 115992 RING-type (C3HC4) zinc fingers 28856 protein-coding gene gene with protein product NA 12477932 Standard NM_178841 NM_178841 NA Approved MGC2647, MGC14381 uc002flk.3 Q96A37 OTTHUMG00000137863 ENST00000312838.4:c.-82G>A chr16.hg19:g.88772815C>T NA B3KQ03|D3DX75|H3BTU8|Q96DM0 hg19 CCDS10969.1 0.02 -0.280736 GCGxTGA COVERED NOVEL RNF166-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269544.1 0 3.911621 KEEP 0 0 0 13 453 CC 0.994391 0.735522 0 - 4 60 130 0 0 9.673901 28 60 1021 51 ENST00000312838.4 0.125 0.739671 CTU2 348180 __UNKNOWN__ __UNKNOWN__ 16 88779739 88779739 __UNKNOWN__ Missense_Mutation SNP A A G rs11549837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88779739A>G ENST00000453996.2 + 8 825 c.757A>G c.(757-759)Atg>Gtg p.M253V CTU2_ENST00000567949.1_Missense_Mutation_p.M324V|CTU2_ENST00000312060.5_Missense_Mutation_p.M253V|CTU2_ENST00000378384.3_Missense_Mutation_p.M166V NM_001012759.1 NP_001012777.1 cytosolic thiouridylase subunit 2 homolog (S. pombe) NA NA NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GATCCTCCACATGGCCCGAGC 0.652 NA A||| 2267 0.452676 0.4372 0.4308 5008 , , NA 12324 0.6637 NA 0.3439 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 A VAL/MET,VAL/MET 1823,2551 528.6+/-372.4 375,1073,739 55 56 55 757,757 1.5 1 16 dbSNP_120 55 2924,5664 454.5+/-363.5 500,1924,1870 yes missense,missense CTU2 NM_001012759.1,NM_001012762.1 21,21 875,2997,2609 GG,GA,AA 34.0475,41.6781,36.6224 benign,benign 253/516,253/486 88779739 4747,8215 2187 4294 6481 SO:0001583 missense BC021056 CCDS32506.1, CCDS45545.1 16q24.3 2013-10-11 2009-08-19 2009-08-19 ENSG00000174177 348180 28005 protein-coding gene gene with protein product chromosome 16 open reading frame 84 C16orf84 NA 19017811 Standard NM_001012762 NM_001012759 NA Approved NCS2 uc002flm.3 Q2VPK5 ENST00000453996.2:c.757A>G chr16.hg19:g.88779739A>G ENSP00000388320:p.Met253Val NA hg19 CCDS45545.1 0.02 1.854767 CACxTGG COVERED 988 0.4523809523809524 189 0.38414634146341464 145 0.4005524861878453 375 0.6555944055944056 279 0.36807387862796836 A 0.119 -1.128461 0.01756 0.416781 0.340475 ENSG00000174177 ENST00000378384;ENST00000312060;ENST00000453996 T;T;T 0.14766 2.48;2.48;2.48 5.04 1.54 0.23209 Rossmann-like alpha/beta/alpha sandwich fold (1); 0.534670 0.19256 N 0.118787 T 0.00012 0.0000 N 0.00101 -2.135 0.46927 P 7.420000000000204E-4 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.27157 -1.0082 9 0.09843 T 0.71 . 4.674 0.12703 0.2557:0.0:0.5924:0.1518 rs11549837;rs59473378 166;253;253 Q2VPK5-3;Q2VPK5-5;Q2VPK5 .;.;CTU2_HUMAN V 166;253;253 ENSP00000367635:M166V;ENSP00000308617:M253V;ENSP00000388320:M253V ENSP00000308617:M253V M + 1 0 CTU2 87307240 0.000000 0.05858 0.986000 0.45419 0.760000 0.43138 0.845000 0.27668 0.492000 0.27815 -0.177000 0.13119 ATG NOVEL CTU2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000423025.1 2 12.035166 KEEP 0 0 0 40 1228 AA 1 0.999919 0 + 5 60 174 0 0 11.308492 89 60 3253 185 ENST00000453996.2 0.053191 0.999919 CTU2 348180 __UNKNOWN__ __UNKNOWN__ 16 88781040 88781040 __UNKNOWN__ Missense_Mutation SNP A A G rs8059048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88781040A>G ENST00000453996.2 + 12 1315 c.1247A>G c.(1246-1248)cAg>cGg p.Q416R CTU2_ENST00000567949.1_Missense_Mutation_p.Q487R|CTU2_ENST00000312060.5_Missense_Mutation_p.Q416R|CTU2_ENST00000378384.3_Missense_Mutation_p.Q329R NM_001012759.1 NP_001012777.1 cytosolic thiouridylase subunit 2 homolog (S. pombe) NA NA NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 CGTCTCTCCCAGATGCAGTCA 0.697 NA A||| 1612 0.321885 0.1793 0.3746 5008 , , NA 14539 0.6647 NA 0.1958 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 A ARG/GLN,ARG/GLN 890,3492 338.6+/-305.4 104,682,1405 45 46 45 1247,1247 1.9 0.1 16 dbSNP_116 45 1636,6956 299.7+/-304.6 171,1294,2831 yes missense,missense CTU2 NM_001012759.1,NM_001012762.1 43,43 275,1976,4236 GG,GA,AA 19.041,20.3104,19.4697 benign,benign 416/516,416/486 88781040 2526,10448 2191 4296 6487 SO:0001583 missense BC021056 CCDS32506.1, CCDS45545.1 16q24.3 2013-10-11 2009-08-19 2009-08-19 ENSG00000174177 348180 28005 protein-coding gene gene with protein product chromosome 16 open reading frame 84 C16orf84 NA 19017811 Standard NM_001012762 NM_001012759 NA Approved NCS2 uc002flm.3 Q2VPK5 ENST00000453996.2:c.1247A>G chr16.hg19:g.88781040A>G ENSP00000388320:p.Gln416Arg NA hg19 CCDS45545.1 0.02 23.762057 CCCxGAT COVERED 734 0.3360805860805861 84 0.17073170731707318 126 0.34806629834254144 375 0.6555944055944056 149 0.19656992084432717 A 10.10 1.258563 0.23051 0.203104 0.19041 ENSG00000174177 ENST00000378384;ENST00000312060;ENST00000453996 T;T;T 0.52754 0.65;0.65;0.65 4.32 1.86 0.25419 . 0.070349 0.64402 D 0.000019 T 0.00012 0.0000 L 0.52573 1.65 0.58432 P 4.000000000004E-6 B;B;B 0.15473 0.013;0.01;0.012 B;B;B 0.18263 0.013;0.021;0.009 T 0.35475 -0.9787 9 0.39692 T 0.17 . 4.6795 0.12727 0.4951:0.1719:0.0:0.333 rs8059048;rs60525594;rs8059048 329;416;416 Q2VPK5-3;Q2VPK5-5;Q2VPK5 .;.;CTU2_HUMAN R 329;416;416 ENSP00000367635:Q329R;ENSP00000308617:Q416R;ENSP00000388320:Q416R ENSP00000308617:Q416R Q + 2 0 CTU2 87308541 0.004000 0.15560 0.077000 0.20336 0.048000 0.14542 -0.277000 0.08502 0.108000 0.17862 0.379000 0.24179 CAG NOVEL CTU2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000423025.1 2 37.308226 KEEP 0 0 0 124 3862 AA 1 1 0 + 33 60 1163 0 0 78.545747 493 60 18235 794 ENST00000453996.2 0.062738 1 CTU2 348180 __UNKNOWN__ __UNKNOWN__ 16 88781225 88781225 __UNKNOWN__ Intron SNP T T C rs2306047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88781225T>C ENST00000453996.2 + 13 1420 CTU2_ENST00000567949.1_Intron|CTU2_ENST00000312060.5_Intron|CTU2_ENST00000378384.3_Intron NM_001012759.1 NP_001012777.1 cytosolic thiouridylase subunit 2 homolog (S. pombe) NA NA NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 CTGCACGGCATTGAGGTGCCA 0.667 NA T||| 1645 0.328474 0.1808 0.3761 5008 , , NA 15309 0.6667 NA 0.1968 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 T , 893,3483 319.1+/-295.9 104,685,1399 35 36 35 , -0.7 0 16 dbSNP_100 35 1628,6950 286.1+/-297.5 170,1288,2831 no intron,intron CTU2 NM_001012759.1,NM_001012762.1 , 274,1973,4230 CC,CT,TT 18.9788,20.4068,19.4612 , , 88781225 2521,10433 2188 4289 6477 SO:0001627 intron_variant BC021056 CCDS32506.1, CCDS45545.1 16q24.3 2013-10-11 2009-08-19 2009-08-19 ENSG00000174177 348180 28005 protein-coding gene gene with protein product chromosome 16 open reading frame 84 C16orf84 NA 19017811 Standard NM_001012762 NM_001012759 NA Approved NCS2 uc002flm.3 Q2VPK5 ENST00000453996.2:c.1353-43T>C chr16.hg19:g.88781225T>C NA hg19 CCDS45545.1 0.02 6.766644 GCAxTGA COVERED NOVEL CTU2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000423025.1 0 10.230341 KEEP 0 0 0 34 1049 TT 0.999998 0.999998 0 + 8 60 293 0 0 18.872665 174 60 6093 240 ENST00000453996.2 0.043956 1 PIEZO1 9780 __UNKNOWN__ __UNKNOWN__ 16 88789178 88789178 __UNKNOWN__ Intron SNP G G A rs34745095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88789178G>A ENST00000301015.9 - 34 4915 NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 CGCGGGACTAGGCTGTTAAGC 0.677 NA G||| 1633 0.326078 0.1596 0.3703 5008 , , NA 14971 0.6925 NA 0.1948 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87071 CCDS54058.1 16q24.3 2011-08-31 2011-08-31 2011-08-31 ENSG00000103335 ENSG00000103335 9780 28993 protein-coding gene gene with protein product 611184 family with sequence similarity 38, member A FAM38A NA 20813920, 21056836, 21299953, 21696149 Standard NM_014745 NM_001142864 NA Approved KIAA0233 uc010vpb.2 Q92508 OTTHUMG00000156776 ENST00000301015.9:c.4668+66C>T chr16.hg19:g.88789178G>A NA A6NHT9|A7E2B7|Q0KKZ9 hg19 CCDS54058.1 0.02 4.631044 CTAxGCT COVERED NOVEL PIEZO1-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345699.4 1 10.232705 KEEP 0 0 0 34 1190 GG 0.999998 0.999996 0 - 5 60 189 0 0 12.280974 114 60 4307 172 ENST00000301015.9 0.042017 0.999998 PIEZO1 9780 __UNKNOWN__ __UNKNOWN__ 16 88801026 88801026 __UNKNOWN__ Intron SNP G G A rs3214056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88801026G>A ENST00000301015.9 - 15 2244 RP5-1142A6.2_ENST00000440406.2_RNA NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 GGGTTTCGGCGCCCCTGCCCC 0.706 NA G||| 1290 0.257588 0.1551 0.3098 5008 , , NA 13962 0.5536 NA 0.1809 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 33 40 38 NA NA 16 NA 88801026 691 1586 2277 SO:0001627 intron_variant D87071 CCDS54058.1 16q24.3 2011-08-31 2011-08-31 2011-08-31 ENSG00000103335 ENSG00000103335 9780 28993 protein-coding gene gene with protein product 611184 family with sequence similarity 38, member A FAM38A NA 20813920, 21056836, 21299953, 21696149 Standard NM_014745 NM_001142864 NA Approved KIAA0233 uc010vpb.2 Q92508 OTTHUMG00000156776 ENST00000301015.9:c.1997+31C>T chr16.hg19:g.88801026G>A NA A6NHT9|A7E2B7|Q0KKZ9 hg19 CCDS54058.1 0.02 4.239021 GGCxCCC COVERED NOVEL PIEZO1-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345699.4 1 6.452412 KEEP 0 1 33 33 1063 GG 0.999998 0.999987 0 - 12 60 398 0 0 29.291372 94 60 2874 165 ENST00000301015.9 0.113208 0.999989 PIEZO1 9780 __UNKNOWN__ __UNKNOWN__ 16 88804856 88804856 __UNKNOWN__ Intron SNP G G A rs11076706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88804856G>A ENST00000301015.9 - 7 881 RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 TGCCTGCGGGGCAGGGGCACA 0.652 NA G||| 1352 0.269968 0.1747 0.3199 5008 , , NA 15336 0.5675 NA 0.1839 False NA ,,, NA NA NA 2504 0.1452 NA NA NA NA 0 G 273,1111 34,205,453 26 46 40 -3.6 0 16 dbSNP_120 40 580,2594 62,456,1069 no intron PIEZO1 NM_001142864.2 96,661,1522 AA,AG,GG 18.2735,19.7254,18.7143 88804856 853,3705 692 1587 2279 SO:0001627 intron_variant D87071 CCDS54058.1 16q24.3 2011-08-31 2011-08-31 2011-08-31 ENSG00000103335 ENSG00000103335 9780 28993 protein-coding gene gene with protein product 611184 family with sequence similarity 38, member A FAM38A NA 20813920, 21056836, 21299953, 21696149 Standard NM_014745 NM_001142864 NA Approved KIAA0233 uc010vpb.2 Q92508 OTTHUMG00000156776 ENST00000301015.9:c.635-8C>T chr16.hg19:g.88804856G>A NA A6NHT9|A7E2B7|Q0KKZ9 hg19 CCDS54058.1 0.02 4.048523 GGGxCAG COVERED NOVEL PIEZO1-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345699.4 0 11.135192 KEEP 0 0 0 37 1278 GG 1 1 0 - 10 60 346 0 0 23.737707 130 70 4636 205 ENST00000301015.9 0.071429 1 PIEZO1 9780 __UNKNOWN__ __UNKNOWN__ 16 88805183 88805183 __UNKNOWN__ Intron SNP G G A rs7185630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88805183G>A ENST00000301015.9 - 6 712 RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 CAGGTGTATCGCACTGACGCC 0.657 NA g||| 1351 0.269768 0.1732 0.3199 5008 , , NA 17096 0.5675 NA 0.1839 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 C 277,1107 34,209,449 35 33 34 -0.8 0 16 dbSNP_116 34 584,2594 61,462,1066 no intron PIEZO1 NM_001142864.2 95,671,1515 AA,AG,GG 18.3763,20.0145,18.8733 88805183 861,3701 692 1589 2281 SO:0001627 intron_variant D87071 CCDS54058.1 16q24.3 2011-08-31 2011-08-31 2011-08-31 ENSG00000103335 ENSG00000103335 9780 28993 protein-coding gene gene with protein product 611184 family with sequence similarity 38, member A FAM38A NA 20813920, 21056836, 21299953, 21696149 Standard NM_014745 NM_001142864 NA Approved KIAA0233 uc010vpb.2 Q92508 OTTHUMG00000156776 ENST00000301015.9:c.466-39C>T chr16.hg19:g.88805183G>A NA A6NHT9|A7E2B7|Q0KKZ9 hg19 CCDS54058.1 0.02 8.570933 ATCxCAC COVERED NOVEL PIEZO1-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345699.4 1 17.86928 KEEP 0 1 27 69 2308 GG 1 1 0 - 12 60 420 0 0 26.907792 235 60 7948 414 ENST00000301015.9 0.048583 1 PIEZO1 9780 __UNKNOWN__ __UNKNOWN__ 16 88805231 88805231 __UNKNOWN__ Intron SNP G G A rs12443723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88805231G>A ENST00000301015.9 - 6 712 RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 AGGAGCGTGGGAGGCGGCCAC 0.652 NA G||| 1873 0.374002 0.5492 0.353 5008 , , NA 16653 0.5685 NA 0.1839 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D87071 CCDS54058.1 16q24.3 2011-08-31 2011-08-31 2011-08-31 ENSG00000103335 ENSG00000103335 9780 28993 protein-coding gene gene with protein product 611184 family with sequence similarity 38, member A FAM38A NA 20813920, 21056836, 21299953, 21696149 Standard NM_014745 NM_001142864 NA Approved KIAA0233 uc010vpb.2 Q92508 OTTHUMG00000156776 ENST00000301015.9:c.466-87C>T chr16.hg19:g.88805231G>A NA A6NHT9|A7E2B7|Q0KKZ9 hg19 CCDS54058.1 0.02 4.091649 TGGxAGG COVERED NOVEL PIEZO1-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345699.4 0 11.13314 KEEP 0 0 0 37 1227 GG 1 1 0 - 5 60 177 0 0 10.853886 127 60 4640 192 ENST00000301015.9 0.037879 1 PIEZO1 9780 __UNKNOWN__ __UNKNOWN__ 16 88807878 88807878 __UNKNOWN__ Intron SNP G G A rs2242164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88807878G>A ENST00000301015.9 - 5 712 NM_001142864.2 NP_001136336.2 Q92508 PIEZ1_HUMAN piezo-type mechanosensitive ion channel component 1 NA NA cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1) 10 TGACGCAGCTGCCCTCACCAG 0.557 NA G||| 1458 0.291134 0.236 0.3386 5008 , , NA 16147 0.5744 NA 0.1869 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 18 25 23 NA NA 16 NA 88807878 692 1587 2279 SO:0001627 intron_variant D87071 CCDS54058.1 16q24.3 2011-08-31 2011-08-31 2011-08-31 ENSG00000103335 ENSG00000103335 9780 28993 protein-coding gene gene with protein product 611184 family with sequence similarity 38, member A FAM38A NA 20813920, 21056836, 21299953, 21696149 Standard NM_014745 NM_001142864 NA Approved KIAA0233 uc010vpb.2 Q92508 OTTHUMG00000156776 ENST00000301015.9:c.465+7C>T chr16.hg19:g.88807878G>A NA A6NHT9|A7E2B7|Q0KKZ9 hg19 CCDS54058.1 0.02 1.643006 GCTxCCC COVERED NOVEL PIEZO1-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345699.4 1 8.420155 KEEP 0 0 0 28 984 GG 0.999997 0.999619 0 - 9 60 300 0 0 21.828756 76 60 2865 130 ENST00000301015.9 0.105882 0.999622 CDT1 81620 __UNKNOWN__ __UNKNOWN__ 16 88874632 88874632 __UNKNOWN__ Silent SNP C C G rs572275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88874632C>G ENST00000301019.4 + 10 2206 c.1587C>G c.(1585-1587)ctC>ctG p.L529L NM_030928.3 NP_112190.2 chromatin licensing and DNA replication factor 1 NA NA central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(80;0.0476) CCGCGGACCTCGCCCACATCA 0.667 NA G||| 2768 0.552716 0.7489 0.4942 5008 , , NA 17709 0.6637 NA 0.3767 False NA ,,, NA NA NA 2504 0.3957 NA NA NA Melanoma(159;511 3380 30971) NA 0 G 3098,1278 405.1+/-333.4 1101,896,191 46 36 40 1587 1 0 16 dbSNP_83 40 3170,5426 623.9+/-397.5 577,2016,1705 no coding-synonymous CDT1 NM_030928.3 1678,2912,1896 GG,GC,CC 36.8776,29.2048,48.3195 529/547 88874632 6268,6704 2188 4298 6486 SO:0001819 synonymous_variant AF070552 CCDS32510.1 16q24.3 2014-08-12 ENSG00000167513 ENSG00000167513 81620 24576 protein-coding gene gene with protein product 605525 NA 11896191, 11555648 Standard NM_030928 NM_030928 NA Approved DUP, RIS2 uc002flu.3 Q9H211 OTTHUMG00000173467 ENST00000301019.4:c.1587C>G chr16.hg19:g.88874632C>G NA hg19 CCDS32510.1 0.02 11.993174 CCTxGCC COVERED NOVEL CDT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000423215.1 1 41.532182 KEEP 0 0 0 138 4772 CC 1 1 0 + 10 60 379 0 0 24.341273 246 60 8688 519 ENST00000301019.4 0.039062 1 APRT 353 __UNKNOWN__ __UNKNOWN__ 16 88876666 88876666 __UNKNOWN__ Intron SNP C C G rs8191489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88876666C>G ENST00000378364.3 - 4 366 APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Intron NM_000485.2 NP_000476.1 P07741 APT_HUMAN adenine phosphoribosyltransferase NA NA adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208) cervix(1)|endometrium(1)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(80;0.0477) Adenine(DB00173)|Adenosine monophosphate(DB00131) CTTGCTGTTACCTGGCTGTGT 0.572 NA C||| 1318 0.263179 0.0877 0.2781 5008 , , NA 20782 0.5397 NA 0.2584 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32511.1, CCDS45546.1 16q24 2012-10-02 ENSG00000198931 353 2.4.2.7 626 protein-coding gene gene with protein product 102600 NA Standard NM_000485 NM_000485 NA Approved uc002flv.3 P07741 ENST00000378364.3:c.322-110G>C chr16.hg19:g.88876666C>G NA G5E9J2|Q3KP55|Q68DF9 hg19 CCDS32511.1 0.02 4.282257 TTAxCTG COVERED NOVEL APRT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430000.2 2 21.666576 KEEP 0 0 0 72 2435 CC 1 1 0 - 8 60 298 0 0 20.406911 128 60 4703 242 ENST00000378364.3 0.058824 1 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88880146 88880146 __UNKNOWN__ 3'UTR SNP G G C rs77936719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88880146G>C ENST00000268695.5 - 0 2358 GALNS_ENST00000542788.1_3'UTR NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) gaaaaatcaagctgggaatta 0.453 NA G||| 1308 0.261182 0.0802 0.2738 5008 , , NA 15804 0.5248 NA 0.2684 False NA ,,, NA NA NA 2504 0.2178 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.*701C>G chr16.hg19:g.88880146G>C NA Q86VK3 hg19 CCDS10970.1 0.02 2.196519 CAAxCTG COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 0 6.6218 KEEP 0 0 0 22 798 GG 0.999879 0.979408 0 - 5 60 187 0 0 13.769419 51 60 1928 100 ENST00000268695.5 0.089286 0.979526 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88880195 88880195 __UNKNOWN__ 3'UTR SNP T T C rs1135366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88880195T>C ENST00000268695.5 - 0 2309 GALNS_ENST00000542788.1_3'UTR NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) aataacatagttacaatgata 0.443 NA C||| 1404 0.280351 0.149 0.2795 5008 , , NA 16116 0.5238 NA 0.2684 False NA ,,, NA NA NA 2504 0.2198 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.*652A>G chr16.hg19:g.88880195T>C NA Q86VK3 hg19 CCDS10970.1 0.02 2.32075 TAGxTAC COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 0 8.72662 KEEP 0 0 0 29 920 TT 0.999997 0.998693 0 - 4 60 154 0 0 10.528531 71 60 2458 136 ENST00000268695.5 0.053333 0.998696 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88880236 88880236 __UNKNOWN__ 3'UTR SNP T T C rs1135364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88880236T>C ENST00000268695.5 - 0 2268 GALNS_ENST00000542788.1_3'UTR NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) ataattagcgtccagggaaat 0.458 NA C||| 1573 0.314097 0.2753 0.2853 5008 , , NA 17085 0.5238 NA 0.2684 False NA ,,, NA NA NA 2504 0.2178 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.*611A>G chr16.hg19:g.88880236T>C NA Q86VK3 hg19 CCDS10970.1 0.02 2.115637 GCGxCCA COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 0 10.829588 KEEP 0 0 0 36 1089 TT 0.999999 0.999767 0 - 4 60 146 0 0 9.465518 83 60 2871 146 ENST00000268695.5 0.045977 0.999768 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88880480 88880480 __UNKNOWN__ 3'UTR SNP A A G rs1141390 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88880480A>G ENST00000268695.5 - 0 2024 GALNS_ENST00000542788.1_3'UTR NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) cagccacctcaggcacctgtt 0.478 NA G||| 1942 0.38778 0.3442 0.3458 5008 , , NA 20555 0.6101 NA 0.335 False NA ,,, NA NA NA 2504 0.3016 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.*367T>C chr16.hg19:g.88880480A>G NA Q86VK3 hg19 CCDS10970.1 0.02 3.903911 CTCxGGC COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 0 9.927743 KEEP 0 0 0 33 1004 AA 0.999998 0.999998 0 - 8 60 273 0 0 17.683484 137 60 5060 191 ENST00000268695.5 0.055172 1 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88884466 88884466 __UNKNOWN__ Silent SNP C C T rs2303271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88884466C>T ENST00000268695.5 - 13 1519 c.1431G>A c.(1429-1431)gaG>gaA p.E477E GALNS_ENST00000542788.1_Silent_p.E402E NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase 477 NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) GGACCAAGGCCTCCTGGTGCT 0.672 NA C||| 2375 0.474241 0.4947 0.4265 5008 , , NA 16578 0.627 NA 0.3827 False NA ,,, NA NA NA 2504 0.4172 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 C 2024,2324 475,1074,625 61 45 51 1431 -0.9 0 16 dbSNP_100 51 3140,5450 563,2014,1718 no coding-synonymous GALNS NM_000512.4 1038,3088,2343 TT,TC,CC 36.5541,46.5501,39.9134 477/523 88884466 5164,7774 2174 4295 6469 SO:0001819 synonymous_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.1431G>A chr16.hg19:g.88884466C>T NA Q86VK3 hg19 CCDS10970.1 0.02 4.338352 GGCxTCC COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 1 19.563246 KEEP 0 0 0 65 2355 CC 1 1 0 - 6 60 232 0 0 15.289908 135 60 5132 265 ENST00000268695.5 0.042553 1 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88893013 88893013 __UNKNOWN__ Intron SNP C C G rs3859024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88893013C>G ENST00000268695.5 - 10 1228 GALNS_ENST00000542788.1_Intron NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) TGTCCAGAACCAGGAGGGCTG 0.672 NA G||| 2024 0.404153 0.4032 0.3703 5008 , , NA 12418 0.5685 NA 0.3221 False NA ,,, NA NA NA 2504 0.3446 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.1139+96G>C chr16.hg19:g.88893013C>G NA Q86VK3 hg19 CCDS10970.1 0.02 2.427024 AACxAGG COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 0 6.922355 KEEP 0 0 0 23 798 CC 0.999892 0.992819 0 - 6 60 224 0 0 16.622891 58 60 2077 104 ENST00000268695.5 0.09375 0.992926 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88902183 88902183 __UNKNOWN__ Silent SNP G G A rs1064315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88902183G>A ENST00000268695.5 - 7 796 c.708C>T c.(706-708)caC>caT p.H236H GALNS_ENST00000542788.1_Silent_p.H161H NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase 236 Catalytic domain. NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) AGACGGGTGCGTGCGTGGCGT 0.617 NA G||| 1586 0.316693 0.211 0.2767 5008 , , NA 17738 0.5486 NA 0.2724 False NA ,,, NA NA NA 2504 0.2945 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 G 920,3476 351.6+/-311.3 84,752,1362 135 112 119 708 -4.9 0.2 16 dbSNP_86 119 2205,6395 375.8+/-337.9 257,1691,2352 no coding-synonymous GALNS NM_000512.4 341,2443,3714 AA,AG,GG 25.6395,20.9281,24.0459 236/523 88902183 3125,9871 2198 4300 6498 SO:0001819 synonymous_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.708C>T chr16.hg19:g.88902183G>A NA Q86VK3 hg19 CCDS10970.1 0.02 6.598937 TGCxTGC COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 0 6.755715 KEEP 0 1 30 33 1138 GG 0.999999 0.999999 0 - 8 60 297 0 0 19.576092 159 60 5590 246 ENST00000268695.5 0.047904 1 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88902780 88902780 __UNKNOWN__ Intron SNP A A G rs12444543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88902780A>G ENST00000268695.5 - 6 655 GALNS_ENST00000542788.1_Intron NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) AAAGAAGGCTAGggctgggcg 0.498 NA g||| 1789 0.357228 0.2171 0.3487 5008 , , NA 16929 0.5714 NA 0.3101 False NA ,,, NA NA NA 2504 0.3804 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.567-105T>C chr16.hg19:g.88902780A>G NA Q86VK3 hg19 CCDS10970.1 0.02 7.535547 GCTxGGG COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 3 9.320995 KEEP 0 0 0 31 958 AA 0.999997 0.999997 0 - 7 60 256 0 0 16.309376 161 60 6002 243 ENST00000268695.5 0.041667 1 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88902823 88902823 __UNKNOWN__ Intron SNP G G T rs11076723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88902823G>T ENST00000268695.5 - 6 655 GALNS_ENST00000542788.1_Intron NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) cagcattttgggaggctgagg 0.493 NA g||| 1576 0.314696 0.1929 0.281 5008 , , NA 17061 0.5486 NA 0.2823 False NA ,,, NA NA NA 2504 0.2955 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000268695.5:c.567-148C>A chr16.hg19:g.88902823G>T NA Q86VK3 hg19 CCDS10970.1 0.02 4.648915 TTGxGAG COVERED NOVEL GALNS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269543.1 1 6.319924 KEEP 0 0 0 21 707 GG 0.999869 0.999867 0 - 5 60 194 0 0 12.954911 105 60 3782 148 ENST00000268695.5 0.045455 0.999998 GALNS 2588 __UNKNOWN__ __UNKNOWN__ 16 88921634 88921634 __UNKNOWN__ 3'UTR SNP C C G rs34150867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88921634C>G ENST00000568311.1 - 0 604 GALNS_ENST00000268695.5_Intron|GALNS_ENST00000542788.1_Splice_Site|GALNS_ENST00000565364.1_Intron P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202) metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) CCCCGCCTCACCCCTCTGTCC 0.428 NA G||| 2007 0.400759 0.6233 0.2867 5008 , , NA 17227 0.4444 NA 0.2992 False NA ,,, NA NA NA 2504 0.2403 NA NA NA GBM(129;1929 2344 25209 33204) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D17629 CCDS10970.1 16q24.3 2014-07-03 2014-07-03 ENSG00000141012 ENSG00000141012 2588 3.1.6.4 Arylsulfatase family 4122 protein-coding gene gene with protein product Morquio syndrome, mucopolysaccharidosis type IVA 612222 galactosamine (N-acetyl)-6-sulfate sulfatase NA 1755850 Standard NM_000512 NA Approved GAS, GALNAC6S uc002fly.4 P34059 OTTHUMG00000137862 ENST00000568311.1:c.*161G>C chr16.hg19:g.88921634C>G NA Q86VK3 hg19 0.02 7.483408 TCAxCCC COVERED 861 0.3942307692307692 295 0.5995934959349594 99 0.27348066298342544 245 0.42832167832167833 222 0.2928759894459103 G 0.788 -0.759765 0.03019 . . ENSG00000141012 ENST00000542788 . . . 0.676 -0.451 0.12214 . . . . . . . . . . . 0.39062 P 0.039456999999999964 . . . . . . . . . . . . . . . . . rs34150867;rs56675682 . . . . -1 . . . - . . GALNS 87449135 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -0.704000 0.05058 -0.906000 0.03866 -0.647000 0.03941 . NOVEL GALNS-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000430329.1 1 21.068624 KEEP 0 0 0 70 2490 CC 1 1 0 - 10 60 391 0 0 27.103727 170 60 6292 306 ENST00000568311.1 0.055556 1 TRAPPC2L 51693 __UNKNOWN__ __UNKNOWN__ 16 88927221 88927221 __UNKNOWN__ Intron SNP T T C rs3826061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88927221T>C ENST00000567312.1 + 4 300 TRAPPC2L_ENST00000568583.1_Intron|TRAPPC2L_ENST00000561840.1_Intron|TRAPPC2L_ENST00000565504.1_3'UTR|TRAPPC2L_ENST00000301021.3_Intron|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000564365.1_Intron Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like NA NA ER to Golgi vesicle-mediated transport (GO:0006888) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) CTGGAGAAGGTCCCGAGCATC 0.622 NA .||| 2174 0.434105 0.5961 0.3617 5008 , , NA 17344 0.5516 NA 0.3449 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC011369 CCDS10971.1 16q24.3 2008-02-05 ENSG00000167515 ENSG00000167515 51693 30887 protein-coding gene gene with protein product 610970 NA 11042152 Standard NM_016209 NM_016209 NA Approved HSPC176 uc002fmc.3 Q9UL33 OTTHUMG00000137861 ENST00000567312.1:c.285-101T>C chr16.hg19:g.88927221T>C NA B2R4M9|Q6ZTA7|Q9NZZ4 hg19 0.02 4.121662 AGGxCCC COVERED NOVEL TRAPPC2L-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000430345.1 1 7.818973 KEEP 0 0 0 26 730 TT 0.999988 0.999988 0 + 7 60 229 0 0 14.298013 136 60 4662 177 ENST00000567312.1 0.048951 1 TRAPPC2L 51693 __UNKNOWN__ __UNKNOWN__ 16 88928290 88928290 __UNKNOWN__ 3'UTR SNP A A G rs12597391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88928290A>G ENST00000301021.3 + 0 1411 PABPN1L_ENST00000378358.4_Intron|TRAPPC2L_ENST00000565504.1_3'UTR Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like NA NA ER to Golgi vesicle-mediated transport (GO:0006888) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) TTCTTGATACATATTTGCCTT 0.488 NA .||| 1551 0.309704 0.1921 0.3069 5008 , , NA 19292 0.5417 NA 0.3111 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011369 CCDS10971.1 16q24.3 2008-02-05 ENSG00000167515 ENSG00000167515 51693 30887 protein-coding gene gene with protein product 610970 NA 11042152 Standard NM_016209 NM_016209 NA Approved HSPC176 uc002fmc.3 Q9UL33 OTTHUMG00000137861 ENST00000301021.3:c.*923A>G chr16.hg19:g.88928290A>G NA B2R4M9|Q6ZTA7|Q9NZZ4 hg19 CCDS10971.1 0.02 2.312482 TACxTAT COVERED NOVEL TRAPPC2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269542.1 1 4.51316 KEEP 0 0 0 15 465 AA 0.99649 0.995362 0 + 8 60 280 0 0 20.669328 69 60 2484 106 ENST00000301021.3 0.103896 0.998867 TRAPPC2L 51693 __UNKNOWN__ __UNKNOWN__ 16 88928417 88928417 __UNKNOWN__ 3'UTR SNP C C T rs12596491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88928417C>T ENST00000301021.3 + 0 1538 PABPN1L_ENST00000378358.4_Intron|TRAPPC2L_ENST00000565504.1_3'UTR Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like NA NA ER to Golgi vesicle-mediated transport (GO:0006888) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) GAATTGGAAGCCCTGGAATGG 0.502 NA .||| 2151 0.429513 0.5764 0.3573 5008 , , NA 16735 0.5625 NA 0.34 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011369 CCDS10971.1 16q24.3 2008-02-05 ENSG00000167515 ENSG00000167515 51693 30887 protein-coding gene gene with protein product 610970 NA 11042152 Standard NM_016209 NM_016209 NA Approved HSPC176 uc002fmc.3 Q9UL33 OTTHUMG00000137861 ENST00000301021.3:c.*1050C>T chr16.hg19:g.88928417C>T NA B2R4M9|Q6ZTA7|Q9NZZ4 hg19 CCDS10971.1 0.02 6.113437 AAGxCCT COVERED NOVEL TRAPPC2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269542.1 3 8.727895 KEEP 0 0 0 29 1014 CC 0.999997 0.999997 0 + 7 60 252 0 0 15.751852 170 60 6177 239 ENST00000301021.3 0.039548 1 CBFA2T3 863 __UNKNOWN__ __UNKNOWN__ 16 88958282 88958282 __UNKNOWN__ Intron SNP C C G rs3743541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:88958282C>G ENST00000268679.4 - 5 1108 CBFA2T3_ENST00000360302.2_Intron|CBFA2T3_ENST00000327483.5_Intron|CBFA2T3_ENST00000436887.2_Intron|CBFA2T3_ENST00000448839.1_Intron NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 NA NA cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634) chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GGACGGGTTTCGCATTACCTT 0.587 NA T RUNX1 AML N||| 1909 0.38119 0.6256 0.304 5008 , , NA 19504 0.4891 NA 0.2177 False NA ,,, NA NA NA 2504 0.1626 NA NA NA Dom yes 16 16q24 863 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16) L 0 , 2519,1869 521.1+/-370.4 728,1063,403 66 64 65 , -3.4 0 16 dbSNP_107 65 1625,6973 734.5+/-406.9 154,1317,2828 no intron,intron CBFA2T3 NM_005187.5,NM_175931.2 , 882,2380,3231 GG,GC,CC 18.8997,42.5934,31.9113 , , 88958282 4144,8842 2194 4299 6493 SO:0001627 intron_variant AF052213 CCDS10972.1, CCDS10973.1 16q24 2013-10-16 ENSG00000129993 ENSG00000129993 863 Zinc fingers, MYND-type, A-kinase anchor proteins 1537 protein-coding gene gene with protein product myeloid translocation gene 8 and 16b 603870 NA 9790752, 20150326 Standard NM_005187 NM_005187 NA Approved MTGR2, ZMYND4, MTG16 uc002fmm.2 O75081 OTTHUMG00000137864 ENST00000268679.4:c.711+7G>C chr16.hg19:g.88958282C>G NA D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6 hg19 CCDS10972.1 0.02 2.361091 TTTxGCA COVERED NOVEL CBFA2T3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000269545.2 0 4.814764 KEEP 0 0 0 16 537 CC 0.997832 0.985801 0 - 4 60 154 0 0 10.92739 56 60 2049 95 ENST00000268679.4 0.066667 0.987943 RP11-830F9.6 0 __UNKNOWN__ __UNKNOWN__ 16 89017334 89017334 __UNKNOWN__ Missense_Mutation SNP C C T rs28617399 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89017334C>T ENST00000378347.2 + 2 1214 c.808C>T c.(808-810)Cgg>Tgg p.R270W CBFA2T3_ENST00000268679.4_Intron|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Intron|CBFA2T3_ENST00000436887.2_Intron NA NA NA ACCTGTCTTCCGGATCTGTTC 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000378347.2:c.808C>T chr16.hg19:g.89017334C>T ENSP00000367598:p.Arg270Trp NA hg19 0.02 1.927916 TTCxGGA COVERED . . . . . . . . . . - 0.780 -0.762651 0.02996 . . ENSG00000205018 ENST00000378347 . . . . . . . . . . . T 0.35038 0.0918 . . . 0.40400 P 0.02036300000000002 . . . . . . T 0.42965 -0.9420 3 0.56958 D 0.05 . 2.6646 0.05037 0.0:0.5037:0.0:0.4962 . . . . W 270 . ENSP00000367598:R270W R + 1 2 AC092384.1 87544835 0.379000 0.25123 0.096000 0.21009 0.096000 0.18686 -0.068000 0.11561 0.064000 0.16427 0.064000 0.15345 CGG NOVEL RP11-830F9.6-001 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000430363.2 1 5.712323 KEEP 40 0 0 19 624 CC 0.999366 0.999315 0 + 5 49 188 1 0 12.61178 93 58 3309 201 ENST00000378347.2 0.05102 0.999948 ACSF3 197322 __UNKNOWN__ __UNKNOWN__ 16 89180935 89180935 __UNKNOWN__ Intron SNP G G T rs3743980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89180935G>T ENST00000378345.4 + 4 555 ACSF3_ENST00000406948.3_Intron|ACSF3_ENST00000317447.4_Intron|CTD-2555A7.3_ENST00000562782.1_RNA Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 NA NA fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410) mitochondrion (GO:0005739) acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) CTTCCACTGTGCTCTGAGCCC 0.662 NA G||| 2708 0.540735 0.4849 0.7478 5008 , , NA 20299 0.3462 NA 0.7207 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 G , 2312,2084 595.4+/-388.4 613,1086,499 38 41 40 , 0.5 0 16 dbSNP_107 40 6300,2300 699.2+/-405.1 2319,1662,319 no intron,intron ACSF3 NM_001127214.2,NM_174917.3 , 2932,2748,818 TT,TG,GG 26.7442,47.4067,33.7335 , , 89180935 8612,4384 2198 4300 6498 SO:0001627 intron_variant AK075499 CCDS10974.1, CCDS73926.1 16q24.3 2013-01-15 ENSG00000176715 ENSG00000176715 197322 Acyl-CoA synthetase family 27288 protein-coding gene gene with protein product malonyl-CoA synthetase 614245 NA 17762044, 21846720 Standard NM_174917 XM_005256293 NA Approved uc010cig.2 Q4G176 OTTHUMG00000138044 ENST00000378345.4:c.331+40G>T chr16.hg19:g.89180935G>T NA A8K4J8|C9JQL6|Q6INA0|Q8N2F7 hg19 0.02 2.234945 TGTxCTC COVERED NOVEL ACSF3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000395755.1 0 3.009244 KEEP 0 0 0 10 340 GG 0.992708 0.984859 0 + 4 60 143 0 0 9.741025 59 60 2148 79 ENST00000378345.4 0.063492 0.992094 ZNF778 197320 __UNKNOWN__ __UNKNOWN__ 16 89287460 89287460 __UNKNOWN__ 5'UTR SNP A A G rs72819396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89287460A>G ENST00000433976.2 + 0 257 NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) TACCTTCCACATAGATTCACA 0.537 NA A||| 605 0.120807 0.3359 0.0303 5008 , , NA 22464 0.0089 NA 0.0229 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 A , 336,1048 39,258,395 29 29 29 , -1.2 0 16 dbSNP_130 29 48,3134 0,48,1543 no utr-5,utr-5 ZNF778 NM_001201407.1,NM_182531.3 , 39,306,1938 GG,GA,AA 1.5085,24.2775,8.41 , , 89287460 384,4182 692 1591 2283 SO:0001623 5_prime_UTR_variant AK056437 CCDS45550.1, CCDS73928.1 16q24.3 2014-09-17 ENSG00000170100 ENSG00000170100 197320 Zinc fingers, C2H2-type, - 26479 protein-coding gene gene with protein product NA Standard NM_182531 NM_182531 NA Approved FLJ31875 uc021tms.1 Q96MU6 ENST00000433976.2:c.-76A>G chr16.hg19:g.89287460A>G NA Q08AG0 hg19 CCDS45550.1 0.02 1.833515 CACxTAG COVERED NOVEL ZNF778-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430383.1 2 9.011653 KEEP 0 0 0 30 930 AA 0.999997 0.999675 0 + 5 60 181 0 0 12.203576 81 60 2977 141 ENST00000433976.2 0.05814 0.999678 ZNF778 197320 __UNKNOWN__ __UNKNOWN__ 16 89293281 89293281 __UNKNOWN__ Silent SNP G G A rs74033442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89293281G>A ENST00000433976.2 + 6 833 c.501G>A c.(499-501)gaG>gaA p.E167E ZNF778_ENST00000306502.6_Silent_p.E125E|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 167 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) AAATTGGAGAGCAGTTTTCCG 0.433 NA G||| 461 0.0920527 0.2405 0.0159 5008 , , NA 22296 0.0089 NA 0.0099 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 G , 684,3212 68,548,1332 107 106 106 585,501 1.1 0 16 dbSNP_130 106 90,8230 1,88,4071 no coding-synonymous,coding-synonymous ZNF778 NM_001201407.1,NM_182531.3 , 69,636,5403 AA,AG,GG 1.0817,17.5565,6.336 , 195/758,167/730 89293281 774,11442 1948 4160 6108 SO:0001819 synonymous_variant AK056437 CCDS45550.1, CCDS73928.1 16q24.3 2014-09-17 ENSG00000170100 ENSG00000170100 197320 Zinc fingers, C2H2-type, - 26479 protein-coding gene gene with protein product NA Standard NM_182531 NM_182531 NA Approved FLJ31875 uc021tms.1 Q96MU6 ENST00000433976.2:c.501G>A chr16.hg19:g.89293281G>A NA Q08AG0 hg19 CCDS45550.1 0.02 11.528132 AGAxCAG COVERED NOVEL ZNF778-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430383.1 4 23.777015 KEEP 0 0 0 79 2843 GG 1 1 0 + 11 60 364 0 0 20.735406 320 60 12231 491 ENST00000433976.2 0.033233 1 ZNF778 197320 __UNKNOWN__ __UNKNOWN__ 16 89294044 89294044 __UNKNOWN__ Missense_Mutation SNP A A G rs74033443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89294044A>G ENST00000433976.2 + 6 1596 c.1264A>G c.(1264-1266)Acg>Gcg p.T422A ZNF778_ENST00000306502.6_Missense_Mutation_p.T380A|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 422 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) GAAGCCATACACGTGTAAGGA 0.498 NA A||| 498 0.0994409 0.2678 0.0173 5008 , , NA 21622 0.0089 NA 0.0099 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 A ALA/THR,ALA/THR 893,3457 308.8+/-290.8 98,697,1380 102 107 106 1348,1264 -2.3 0 16 dbSNP_130 106 93,8485 49.8+/-109.6 1,91,4197 yes missense,missense ZNF778 NM_001201407.1,NM_182531.3 58,58 99,788,5577 GG,GA,AA 1.0842,20.5287,7.6269 benign,benign 450/758,422/730 89294044 986,11942 2175 4289 6464 SO:0001583 missense AK056437 CCDS45550.1, CCDS73928.1 16q24.3 2014-09-17 ENSG00000170100 ENSG00000170100 197320 Zinc fingers, C2H2-type, - 26479 protein-coding gene gene with protein product NA Standard NM_182531 NM_182531 NA Approved FLJ31875 uc021tms.1 Q96MU6 ENST00000433976.2:c.1264A>G chr16.hg19:g.89294044A>G ENSP00000405289:p.Thr422Ala NA Q08AG0 hg19 CCDS45550.1 0.02 19.508373 TACxCGT COVERED 144 0.06593406593406594 127 0.258130081300813 4 0.011049723756906077 4 0.006993006993006993 9 0.011873350923482849 A 1.660 -0.511717 0.04200 0.205287 0.010842 ENSG00000170100 ENST00000433976;ENST00000306502 T;T 0.19532 2.14;2.14 1.13 -2.26 0.06867 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.04132 -0.27 0.80722 P 0.0 B;B 0.10296 0.002;0.003 B;B 0.17098 0.006;0.017 T 0.41215 -0.9521 8 0.41790 T 0.15 . 4.3247 0.11034 0.3471:0.2669:0.3859:0.0 . 380;422 Q96MU6-2;Q96MU6 .;ZN778_HUMAN A 422;380 ENSP00000405289:T422A;ENSP00000305203:T380A ENSP00000305203:T380A T + 1 0 ZNF778 87821545 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -5.352000 0.00129 -2.327000 0.00636 -1.386000 0.01163 ACG NOVEL ZNF778-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430383.1 3 37.306928 KEEP 0 0 0 124 3765 AA 1 1 0 + 13 60 482 1 0 28.511763 464 60 16638 749 ENST00000433976.2 0.027254 1 ZNF778 197320 __UNKNOWN__ __UNKNOWN__ 16 89294595 89294595 __UNKNOWN__ Silent SNP C C T rs74466939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89294595C>T ENST00000433976.2 + 6 2147 c.1815C>T c.(1813-1815)atC>atT p.I605I ZNF778_ENST00000306502.6_Silent_p.I563I|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 605 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) CACACCTTATCGTGCACATAA 0.473 NA C||| 813 0.16234 0.1248 0.2651 5008 , , NA 22985 0.1746 NA 0.0815 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 C , 557,3831 227.8+/-242.9 39,479,1676 92 96 95 1899,1815 -1.7 0 16 dbSNP_131 95 860,7738 190.1+/-236.7 45,770,3484 no coding-synonymous,coding-synonymous ZNF778 NM_001201407.1,NM_182531.3 , 84,1249,5160 TT,TC,CC 10.0023,12.6937,10.9118 , 633/758,605/730 89294595 1417,11569 2194 4299 6493 SO:0001819 synonymous_variant AK056437 CCDS45550.1, CCDS73928.1 16q24.3 2014-09-17 ENSG00000170100 ENSG00000170100 197320 Zinc fingers, C2H2-type, - 26479 protein-coding gene gene with protein product NA Standard NM_182531 NM_182531 NA Approved FLJ31875 uc021tms.1 Q96MU6 ENST00000433976.2:c.1815C>T chr16.hg19:g.89294595C>T NA Q08AG0 hg19 CCDS45550.1 0.02 6.847069 TATxGTG COVERED NOVEL ZNF778-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430383.1 2 12.631665 KEEP 0 0 0 42 1360 CC 1 1 0 + 8 60 300 0 0 19.753743 165 60 5810 249 ENST00000433976.2 0.046243 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 89299432 89299432 __UNKNOWN__ IGR SNP G G C rs199697753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89299432G>C NA NA ZNF778 (4069 upstream) : RP11-46C24.5 (24154 downstream) NA NA NA TGCAACTCAAGTCGCACTGCG 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.89299432G>C NA hg19 0.02 5.128667 CAAxTCG COVERED . . . . . . . . . . - 3.326 -0.137734 0.06711 . . ENSG00000205014 ENST00000378337 . . . . . . . . . . . T 0.12390 0.0301 . . . . . . . . . . . . T 0.23368 -1.0190 3 0.10636 T 0.68 . 2.6929 0.05126 0.303:0.3938:0.3033:0.0 . . . . L 80 . ENSP00000407866:V80L V + 1 0 AC009113.1 87826933 0.000000 0.05858 0.001000 0.08648 0.003000 0.03518 -0.976000 0.03786 -2.187000 0.00759 -2.366000 0.00237 GTC NOVEL 0 2 5.973357 KEEP 1 0 0 20 675 GG 0.99986 0.99985 0 6 60 219 0 0 14.865059 96 60 3286 146 0.058824 0.999991 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 89299490 89299490 __UNKNOWN__ IGR SNP A A G rs80206473 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89299490A>G NA NA ZNF778 (4127 upstream) : RP11-46C24.5 (24096 downstream) NA NA NA CGCACTGCGTATGCAACTCAG 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.89299490A>G NA hg19 0.02 1.947562 CGTxTGC COVERED 114 0.0521978021978022 91 0.18495934959349594 6 0.016574585635359115 8 0.013986013986013986 9 0.011873350923482849 a 0.713 -0.786495 0.02907 . . ENSG00000205014 ENST00000378337 . . . 0.382 -0.763 0.11030 . . . . . T 0.00073 0.0002 . . . . . . . . . . . . T 0.15809 -1.0424 4 0.87932 D 0 . 2.136 0.03762 0.3324:0.3438:0.3238:0.0 . . . . C 99 . ENSP00000407866:Y99C Y + 2 0 AC009113.1 87826991 0.000000 0.05858 0.001000 0.08648 0.006000 0.05464 -0.984000 0.03755 -0.410000 0.07542 0.102000 0.15555 TAT NOVEL 0 0 4.814436 KEEP 1 0 0 16 495 AA 0.997832 0.995734 0 4 60 147 0 0 10.003481 64 60 2297 101 0.058824 0.997898 ANKRD11 29123 __UNKNOWN__ __UNKNOWN__ 16 89357538 89357538 __UNKNOWN__ Missense_Mutation SNP C C G rs190143218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89357538C>G ENST00000301030.4 - 5 740 c.280G>C c.(280-282)Gcc>Ccc p.A94P ANKRD11_ENST00000378330.2_Missense_Mutation_p.A94P NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 94 NA bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCAGCCCGGCCTTCCGGGTG 0.637 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 16126 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 51 61 58 NA NA 16 NA 89357538 2198 4300 6498 SO:0001583 missense AY373756 CCDS32513.1 16q24.3 2013-01-10 ENSG00000167522 29123 Ankyrin repeat domain containing 21316 protein-coding gene gene with protein product 611192 NA 11483580 Standard NM_013275 NM_001256182 NA Approved LZ16, T13 uc002fnc.2 Q6UB99 ENST00000301030.4:c.280G>C chr16.hg19:g.89357538C>G ENSP00000301030:p.Ala94Pro NA Q6NTG1|Q6QMF8 hg19 CCDS32513.1 0.02 7.185613 CGGxCTT COVERED 8 0.003663003663003663 0 0.0 0 0.0 8 0.013986013986013986 0 0.0 C 14.53 2.562981 0.45694 . . ENSG00000167522 ENST00000301030;ENST00000378330;ENST00000378332 T;T 0.46063 0.88;0.88 5.74 1.08 0.20341 . 0.588299 0.17858 N 0.159640 T 0.09247 0.0228 N 0.01352 -0.895 0.80722 D 1 B;B;B 0.19706 0.001;0.0;0.038 B;B;B 0.09377 0.001;0.0;0.004 T 0.07214 -1.0784 10 0.23302 T 0.38 . 6.5185 0.22262 0.3748:0.3029:0.3224:0.0 . 94;108;94 A8K4M9;Q59GC3;Q6UB99 .;.;ANR11_HUMAN P 94;94;108 ENSP00000301030:A94P;ENSP00000367581:A94P ENSP00000301030:A94P A - 1 0 ANKRD11 87885039 0.997000 0.39634 0.960000 0.40013 0.980000 0.70556 0.855000 0.27805 0.242000 0.21303 -0.182000 0.12963 GCC NOVEL ANKRD11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000430462.3 2 27.388851 KEEP 0 0 0 91 3231 CC 1 1 0 - 6 60 233 0 0 14.746088 174 60 6423 371 ENST00000301030.4 0.033333 1 SPG7 6687 __UNKNOWN__ __UNKNOWN__ 16 89597057 89597057 __UNKNOWN__ Intron SNP G G T rs4785690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89597057G>T ENST00000268704.2 + 7 876 SPG7_ENST00000341316.2_Intron NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) NA NA anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TCCTGACTTCGCCCAGCTCCT 0.542 NA G||| 2492 0.497604 0.3116 0.4697 5008 , , NA 19073 0.6895 NA 0.4851 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 0 G , 1456,2940 470.9+/-355.9 247,962,989 100 91 94 , -7 0 16 dbSNP_111 94 3808,4792 538.0+/-383.3 844,2120,1336 no intron,intron SPG7 NM_003119.2,NM_199367.1 , 1091,3082,2325 TT,TG,GG 44.2791,33.121,40.5048 , , 89597057 5264,7732 2198 4300 6498 SO:0001627 intron_variant Y16610 CCDS10977.1, CCDS10978.1 16q24.3 2010-04-21 2007-04-23 ENSG00000197912 ENSG00000197912 6687 ATPases / AAA-type 11237 protein-coding gene gene with protein product paraplegin 602783 cell matrix adhesion regulator CMAR NA 9635427, 9634528 Standard NM_003119 XM_006721264 NA Approved CAR, SPG5C uc002fnj.3 Q9UQ90 OTTHUMG00000138046 ENST00000268704.2:c.862-34G>T chr16.hg19:g.89597057G>T NA O75756|Q2TB70|Q58F00|Q96IB0 hg19 CCDS10977.1 0.02 2.06385 TTCxCCC COVERED NOVEL SPG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269921.2 1 5.417065 KEEP 0 0 0 18 610 GG 0.999859 0.999767 0 + 4 60 137 0 0 8.434482 90 60 3059 133 ENST00000268704.2 0.042553 0.999907 SPG7 6687 __UNKNOWN__ __UNKNOWN__ 16 89603586 89603586 __UNKNOWN__ Intron SNP A A G rs382745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89603586A>G ENST00000268704.2 + 9 1339 SPG7_ENST00000341316.2_3'UTR NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) NA NA anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CGCACAGGATAGGGCCGACGC 0.592 NA G||| 2698 0.538738 0.4622 0.4769 5008 , , NA 17810 0.6895 NA 0.4861 False NA ,,, NA NA NA 2504 0.5849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y16610 CCDS10977.1, CCDS10978.1 16q24.3 2010-04-21 2007-04-23 ENSG00000197912 ENSG00000197912 6687 ATPases / AAA-type 11237 protein-coding gene gene with protein product paraplegin 602783 cell matrix adhesion regulator CMAR NA 9635427, 9634528 Standard NM_003119 XM_006721264 NA Approved CAR, SPG5C uc002fnj.3 Q9UQ90 OTTHUMG00000138046 ENST00000268704.2:c.1324+4542A>G chr16.hg19:g.89603586A>G NA O75756|Q2TB70|Q58F00|Q96IB0 hg19 CCDS10977.1 0.02 16.859538 GATxGGG COVERED NOVEL SPG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269921.2 3 10.133553 KEEP 0 3 107 71 2190 AA 1 1 0 + 10 60 392 0 0 24.004281 361 60 12947 529 ENST00000268704.2 0.026954 1 SPG7 6687 __UNKNOWN__ __UNKNOWN__ 16 89611199 89611199 __UNKNOWN__ Intron SNP G G A rs79201073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89611199G>A ENST00000268704.2 + 10 1464 NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) NA NA anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508) integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CAGGATCCCAGCCTCTCCCAC 0.622 NA G||| 731 0.145966 0.0613 0.1153 5008 , , NA 16122 0.3363 NA 0.0716 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 G 278,4118 155.9+/-189.0 8,262,1928 65 56 59 1.2 0 16 dbSNP_131 59 538,8062 149.1+/-204.2 20,498,3782 no intron SPG7 NM_003119.2 28,760,5710 AA,AG,GG 6.2558,6.3239,6.2789 89611199 816,12180 2198 4300 6498 SO:0001627 intron_variant Y16610 CCDS10977.1, CCDS10978.1 16q24.3 2010-04-21 2007-04-23 ENSG00000197912 ENSG00000197912 6687 ATPases / AAA-type 11237 protein-coding gene gene with protein product paraplegin 602783 cell matrix adhesion regulator CMAR NA 9635427, 9634528 Standard NM_003119 XM_006721264 NA Approved CAR, SPG5C uc002fnj.3 Q9UQ90 OTTHUMG00000138046 ENST00000268704.2:c.1449+19G>A chr16.hg19:g.89611199G>A NA O75756|Q2TB70|Q58F00|Q96IB0 hg19 CCDS10977.1 0.02 3.680667 CCAxCCT COVERED NOVEL SPG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269921.2 1 10.835169 KEEP 0 0 0 36 1298 GG 0.999999 0.999999 0 + 6 60 203 0 0 12.714987 119 60 4417 196 ENST00000268704.2 0.048 1 CPNE7 27132 __UNKNOWN__ __UNKNOWN__ 16 89656424 89656424 __UNKNOWN__ Intron SNP C C A rs74037233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89656424C>A ENST00000319518.8 + 11 1223 CPNE7_ENST00000268720.5_Intron NM_153636.2 NP_705900.1 Q9UBL6 CPNE7_HUMAN copine VII NA NA lipid metabolic process (GO:0006629)|transport (GO:0006810) extracellular vesicular exosome (GO:0070062) transporter activity (GO:0005215) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) AGGCAGAGGACGGCCTGGCCC 0.637 NA C||| 1138 0.227236 0.1679 0.0476 5008 , , NA 17226 0.5863 NA 0.0497 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 C , 228,1156 29,170,493 34 39 38 , -4.6 0 16 dbSNP_130 38 137,3045 4,129,1458 no intron,intron CPNE7 NM_014427.4,NM_153636.2 , 33,299,1951 AA,AC,CC 4.3055,16.474,7.9939 , , 89656424 365,4201 692 1591 2283 SO:0001627 intron_variant AJ133798 CCDS10980.1, CCDS10981.1 16q24.3 2008-07-03 ENSG00000178773 ENSG00000178773 27132 2320 protein-coding gene gene with protein product 605689 NA Standard NM_014427 NA Approved uc002fnq.3 Q9UBL6 OTTHUMG00000138051 ENST00000319518.8:c.1116+65C>A chr16.hg19:g.89656424C>A NA hg19 CCDS10981.1 0.02 2.010272 GGAxGGC COVERED NOVEL CPNE7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269928.2 0 2.407602 KEEP 0 0 0 8 267 CC 0.99257 0.992533 0 + 4 60 154 0 0 10.034752 95 60 3184 120 ENST00000319518.8 0.040404 0.999962 CPNE7 27132 __UNKNOWN__ __UNKNOWN__ 16 89662063 89662063 __UNKNOWN__ Intron SNP T T C rs76970229 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89662063T>C ENST00000319518.8 + 14 1646 CPNE7_ENST00000268720.5_Intron|CPNE7_ENST00000566398.1_Intron NM_153636.2 NP_705900.1 Q9UBL6 CPNE7_HUMAN copine VII NA NA lipid metabolic process (GO:0006629)|transport (GO:0006810) extracellular vesicular exosome (GO:0070062) transporter activity (GO:0005215) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) TCCCTGTTCATGTCACTGCCC 0.637 NA T||| 319 0.0636981 0.0008 0.0 5008 , , NA 16851 0.3085 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T , 3,2619 0,3,1308 7 9 8 , -1.3 0 16 dbSNP_131 8 3,4581 0,3,2289 no intron,intron CPNE7 NM_014427.4,NM_153636.2 , 0,6,3597 CC,CT,TT 0.0654,0.1144,0.0833 , , 89662063 6,7200 1311 2292 3603 SO:0001627 intron_variant AJ133798 CCDS10980.1, CCDS10981.1 16q24.3 2008-07-03 ENSG00000178773 ENSG00000178773 27132 2320 protein-coding gene gene with protein product 605689 NA Standard NM_014427 NA Approved uc002fnq.3 Q9UBL6 OTTHUMG00000138051 ENST00000319518.8:c.1539+52T>C chr16.hg19:g.89662063T>C NA hg19 CCDS10981.1 0.02 3.869537 TCAxGTC COVERED NOVEL CPNE7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000269928.2 1 4.511467 KEEP 0 0 0 15 434 TT 0.99649 0.99649 0 + 6 60 203 0 0 12.270059 142 60 5031 175 ENST00000319518.8 0.040541 1 CHMP1A 5119 __UNKNOWN__ __UNKNOWN__ 16 89712374 89712374 __UNKNOWN__ 3'UTR SNP A A C rs117555004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89712374A>C ENST00000550102.1 - 0 725 CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.L224R|CHMP1A_ENST00000535997.2_3'UTR Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A NA NA cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192) condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363) metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) TGCCGGCCGCAGCCCCGCGGG 0.672 NA A||| 555 0.110823 0.0008 0.0029 5008 , , NA 13889 0.5218 NA 0.004 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 A ARG/LEU, 16,4018 0,16,2001 34 44 41 671, -3.7 0 16 dbSNP_132 41 22,8278 0,22,4128 no missense,utr-3 CHMP1A NM_001083314.1,NM_002768.2 102, 0,38,6129 CC,CA,AA 0.2651,0.3966,0.3081 , 224/241, 89712374 38,12296 2017 4150 6167 SO:0001624 3_prime_UTR_variant U58048 CCDS45552.1 16q24.3 2011-09-21 2011-09-21 2007-03-20 ENSG00000131165 ENSG00000131165 5119 Charged multivesicular body proteins 8740 protein-coding gene gene with protein product 164010 procollagen (type III) N-endopeptidase, chromatin modifying protein 1A PRSM1, PCOLN3 NA 11559748, 11559747 Standard NM_002768 NM_002768 NA Approved KIAA0047, CHMP1, Vps46A uc002fnu.4 Q9HD42 OTTHUMG00000169521 ENST00000550102.1:c.*100T>G chr16.hg19:g.89712374A>C NA A2RU09|Q14468|Q15779|Q96G31 hg19 0.02 10.560611 CGCxGCC COVERED 392 0.1794871794871795 41 0.08333333333333333 12 0.03314917127071823 293 0.5122377622377622 46 0.06068601583113457 A 9.104 1.004984 0.19199 0.003966 0.002651 ENSG00000131165 ENST00000253475 . . . 3.65 -3.68 0.04463 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.17268 0.007;0.021 B;B 0.17098 0.005;0.017 T 0.47983 -0.9074 7 0.87932 D 0 . 0.9737 0.01421 0.1494:0.1683:0.2904:0.3919 . 224;316 A6NG32;D3DX81 .;. R 224 . ENSP00000253475:L224R L - 2 0 CHMP1A 88239875 0.000000 0.05858 0.001000 0.08648 0.068000 0.16541 -0.091000 0.11146 -0.336000 0.08438 0.383000 0.25322 CTG NOVEL CHMP1A-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404586.1 1 28.513142 KEEP 0 1 5 97 2813 AA 1 1 0 - 11 60 368 0 0 21.155672 317 60 11310 504 ENST00000550102.1 0.033537 1 CHMP1A 5119 __UNKNOWN__ __UNKNOWN__ 16 89712380 89712380 __UNKNOWN__ 3'UTR SNP G G A rs116954456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89712380G>A ENST00000550102.1 - 0 719 CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000253475.5_Missense_Mutation_p.A222V|CHMP1A_ENST00000535997.2_3'UTR Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A NA NA cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192) condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363) metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) CCGCAGCCCCGCGGGGTCAGC 0.667 NA G||| 554 0.110623 0.0008 0.0029 5008 , , NA 14250 0.5218 NA 0.003 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G VAL/ALA, 16,4028 0,16,2006 33 42 39 665, -2 0 16 dbSNP_132 39 22,8282 0,22,4130 yes missense,utr-3 CHMP1A NM_001083314.1,NM_002768.2 64, 0,38,6136 AA,AG,GG 0.2649,0.3956,0.3077 , 222/241, 89712380 38,12310 2022 4152 6174 SO:0001624 3_prime_UTR_variant U58048 CCDS45552.1 16q24.3 2011-09-21 2011-09-21 2007-03-20 ENSG00000131165 ENSG00000131165 5119 Charged multivesicular body proteins 8740 protein-coding gene gene with protein product 164010 procollagen (type III) N-endopeptidase, chromatin modifying protein 1A PRSM1, PCOLN3 NA 11559748, 11559747 Standard NM_002768 NM_002768 NA Approved KIAA0047, CHMP1, Vps46A uc002fnu.4 Q9HD42 OTTHUMG00000169521 ENST00000550102.1:c.*94C>T chr16.hg19:g.89712380G>A NA A2RU09|Q14468|Q15779|Q96G31 hg19 0.02 10.990257 CCCxCGG COVERED 298 0.13644688644688643 1 0.0020325203252032522 1 0.0027624309392265192 293 0.5122377622377622 3 0.00395778364116095 G 12.16 1.855711 0.32791 0.003956 0.002649 ENSG00000131165 ENST00000253475 . . . 5.16 -1.95 0.07548 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 P;D 0.53151 0.733;0.958 B;B 0.37144 0.057;0.242 T 0.46091 -0.9216 7 0.87932 D 0 . 3.7729 0.08649 0.139:0.3639:0.3722:0.125 . 222;314 A6NG32;D3DX81 .;. V 222 . ENSP00000253475:A222V A - 2 0 CHMP1A 88239881 0.013000 0.17824 0.000000 0.03702 0.006000 0.05464 0.847000 0.27696 -0.520000 0.06435 0.655000 0.94253 GCG NOVEL CHMP1A-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404586.1 1 27.08377 KEEP 0 0 0 90 3072 GG 1 1 0 - 12 60 401 0 0 23.742473 301 60 10912 471 ENST00000550102.1 0.038339 1 CHMP1A 5119 __UNKNOWN__ __UNKNOWN__ 16 89715696 89715696 __UNKNOWN__ Intron SNP C C T rs2303773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89715696C>T ENST00000550102.1 - 4 287 CHMP1A_ENST00000397901.3_Intron|CHMP1A_ENST00000253475.5_Intron|CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000535997.2_Intron Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A NA NA cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192) condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363) metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) ATCCAGACCGCAGAGCCCATT 0.637 NA C||| 555 0.110823 0.0008 0.0029 5008 , , NA 12433 0.5228 NA 0.003 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58048 CCDS45552.1 16q24.3 2011-09-21 2011-09-21 2007-03-20 ENSG00000131165 ENSG00000131165 5119 Charged multivesicular body proteins 8740 protein-coding gene gene with protein product 164010 procollagen (type III) N-endopeptidase, chromatin modifying protein 1A PRSM1, PCOLN3 NA 11559748, 11559747 Standard NM_002768 NM_002768 NA Approved KIAA0047, CHMP1, Vps46A uc002fnu.4 Q9HD42 OTTHUMG00000169521 ENST00000550102.1:c.225+89G>A chr16.hg19:g.89715696C>T NA A2RU09|Q14468|Q15779|Q96G31 hg19 0.02 1.638641 CCGxAGA COVERED NOVEL CHMP1A-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404586.1 1 3.912016 KEEP 0 0 0 13 432 CC 0.994391 0.994331 0 - 5 60 176 0 0 11.482605 90 60 3315 111 ENST00000550102.1 0.052632 0.99994 CHMP1A 5119 __UNKNOWN__ __UNKNOWN__ 16 89715916 89715916 __UNKNOWN__ Intron SNP C C G rs3815949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89715916C>G ENST00000550102.1 - 4 167 CHMP1A_ENST00000397901.3_Intron|CHMP1A_ENST00000253475.5_Intron|CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000535997.2_Intron Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A NA NA cytokinesis (GO:0000910)|gene silencing (GO:0016458)|mitotic chromosome condensation (GO:0007076)|negative regulation of transcription by glucose (GO:0045014)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|proteolysis (GO:0006508)|transcription, DNA-templated (GO:0006351)|vesicle-mediated transport (GO:0016192) condensed nuclear chromosome (GO:0000794)|early endosome (GO:0005769)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|nuclear matrix (GO:0016363) metallopeptidase activity (GO:0008237)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) CTGAAACCCGCGGGGGAAAGC 0.522 NA G||| 556 0.111022 0.0008 0.0029 5008 , , NA 16325 0.5228 NA 0.004 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G , 16,3850 0,16,1917 39 42 41 , -1 0 16 dbSNP_107 41 23,8245 0,23,4111 no intron,intron CHMP1A NM_001083314.1,NM_002768.2 , 0,39,6028 GG,GC,CC 0.2782,0.4139,0.3214 , , 89715916 39,12095 1933 4134 6067 SO:0001627 intron_variant U58048 CCDS45552.1 16q24.3 2011-09-21 2011-09-21 2007-03-20 ENSG00000131165 ENSG00000131165 5119 Charged multivesicular body proteins 8740 protein-coding gene gene with protein product 164010 procollagen (type III) N-endopeptidase, chromatin modifying protein 1A PRSM1, PCOLN3 NA 11559748, 11559747 Standard NM_002768 NM_002768 NA Approved KIAA0047, CHMP1, Vps46A uc002fnu.4 Q9HD42 OTTHUMG00000169521 ENST00000550102.1:c.106-11G>C chr16.hg19:g.89715916C>G NA A2RU09|Q14468|Q15779|Q96G31 hg19 0.02 14.645907 CCGxGGG COVERED NOVEL CHMP1A-011 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000404586.1 12 27.087784 KEEP 0 0 0 90 3192 CC 1 1 0 - 12 60 427 0 0 25.099533 384 60 13555 638 ENST00000550102.1 0.030303 1 SPATA33 124045 __UNKNOWN__ __UNKNOWN__ 16 89724268 89724268 __UNKNOWN__ Intron SNP C C T rs35415928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89724268C>T ENST00000301031.4 + 1 34 SPATA33_ENST00000579310.1_5'UTR NM_001271908.1|NM_153025.1 NP_001258837.1|NP_694570.1 Q96N06 SPT33_HUMAN spermatogenesis associated 33 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) NA GCTCCGCGGCCGCGGAGGTGT 0.716 NA C||| 384 0.0766773 0.0113 0.1268 5008 , , NA 9684 0.1121 NA 0.0835 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 25,1737 0,25,856 1 2 1 -0.6 0 16 dbSNP_126 1 195,3671 0,195,1738 no intron C16orf55 NM_153025.1 0,220,2594 TT,TC,CC 5.044,1.4188,3.909 89724268 220,5408 881 1933 2814 SO:0001627 intron_variant AK056168 CCDS10983.1, CCDS62012.1, CCDS73929.1 16q24.3 2013-07-16 2013-07-05 2013-07-05 ENSG00000167523 ENSG00000167523 124045 26463 protein-coding gene gene with protein product 615409 chromosome 16 open reading frame 55 C16orf55 NA 23844118 Standard NM_153025 NM_153025 NA Approved FLJ31606 uc010vpk.2 Q96N06 OTTHUMG00000138048 ENST00000301031.4:c.34+25C>T chr16.hg19:g.89724268C>T NA A8WFL2|B4DZN8 hg19 CCDS10983.1 0.02 1.919222 GGCxGCG COVERED NOVEL SPATA33-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000269924.2 0 30.396686 KEEP 0 0 0 101 3451 CC 1 0.999956 0 + 5 60 187 0 0 12.489431 94 60 3215 270 ENST00000301031.4 0.050505 0.999956 SPATA33 124045 __UNKNOWN__ __UNKNOWN__ 16 89735941 89735941 __UNKNOWN__ 3'UTR SNP G G A rs17177773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89735941G>A ENST00000301031.4 + 0 456 SPATA33_ENST00000579310.1_3'UTR NM_001271908.1|NM_153025.1 NP_001258837.1|NP_694570.1 Q96N06 SPT33_HUMAN spermatogenesis associated 33 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) NA TACTCCCTGCGATAGGCGTCT 0.602 NA G||| 126 0.0251597 0.0 0.0 5008 , , NA 16341 0.125 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 2,4394 0,2,2196 24 29 27 2.8 0 16 dbSNP_123 27 0,8600 0,0,4300 no utr-3 C16orf55 NM_153025.1 0,2,6496 AA,AG,GG 0.0,0.0455,0.0154 89735941 2,12994 2198 4300 6498 SO:0001624 3_prime_UTR_variant AK056168 CCDS10983.1, CCDS62012.1, CCDS73929.1 16q24.3 2013-07-16 2013-07-05 2013-07-05 ENSG00000167523 ENSG00000167523 124045 26463 protein-coding gene gene with protein product 615409 chromosome 16 open reading frame 55 C16orf55 NA 23844118 Standard NM_153025 NM_153025 NA Approved FLJ31606 uc010vpk.2 Q96N06 OTTHUMG00000138048 ENST00000301031.4:c.*36G>A chr16.hg19:g.89735941G>A NA A8WFL2|B4DZN8 hg19 CCDS10983.1 0.02 1.738245 TGCxATA COVERED NOVEL SPATA33-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000269924.2 0 8.427113 KEEP 0 0 0 28 967 GG 0.999997 0.999937 0 + 5 60 180 0 0 11.839438 92 60 3141 146 ENST00000301031.4 0.051546 0.99994 VPS9D1 9605 __UNKNOWN__ __UNKNOWN__ 16 89784065 89784065 __UNKNOWN__ Intron SNP C C T rs76378121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89784065C>T ENST00000389386.3 - 3 300 VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA|VPS9D1_ENST00000561976.1_Intron NM_004913.2 NP_004904.2 Q9Y2B5 VP9D1_HUMAN VPS9 domain containing 1 NA NA ATP synthesis coupled proton transport (GO:0015986) GTPase activator activity (GO:0005096)|transporter activity (GO:0005215) NA CTGCCCTTACCCGTCCCCACC 0.607 NA c||| 260 0.0519169 0.0 0.0 5008 , , NA 14835 0.254 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB018551 CCDS42220.1 16q24.3 2012-10-09 2012-10-09 2012-10-09 ENSG00000075399 ENSG00000075399 9605 13526 protein-coding gene gene with protein product chromosome 16 open reading frame 7 C16orf7 NA 10231027 Standard NM_004913 NM_004913 NA Approved ATP-BL uc002fom.1 Q9Y2B5 OTTHUMG00000173219 ENST00000389386.3:c.176-835G>A chr16.hg19:g.89784065C>T NA hg19 CCDS42220.1 0.02 17.641272 TACxCGT COVERED NOVEL VPS9D1-002 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422508.1 3 39.098709 KEEP 0 0 0 130 4521 CC 1 1 0 - 15 60 557 0 0 34.629358 414 60 14965 686 ENST00000389386.3 0.034965 1 ZNF276 92822 __UNKNOWN__ __UNKNOWN__ 16 89804855 89804855 __UNKNOWN__ 3'UTR SNP C C T rs1230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89804855C>T ENST00000443381.2 + 0 2143 ZNF276_ENST00000289816.5_3'UTR|ZNF276_ENST00000568064.1_3'UTR|FANCA_ENST00000568369.1_3'UTR|FANCA_ENST00000389301.3_3'UTR NM_001113525.1 NP_001106997.1 Q8N554 ZN276_HUMAN zinc finger protein 276 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1) 14 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTGAGTGACTCGGGGCCGGAC 0.517 NA T||| 3494 0.697684 0.8003 0.6009 5008 , , NA 19486 0.9861 NA 0.3907 False NA ,,, NA NA NA 2504 0.6462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026482 CCDS10986.1, CCDS45554.1 16q24.3 2014-02-17 2006-02-10 2006-02-10 ENSG00000158805 ENSG00000158805 92822 Zinc fingers, C2H2-type 23330 protein-coding gene gene with protein product centromere protein Z, zinc finger, AD-type 608460 zinc finger protein 276 homolog (mouse) ZFP276 NA 10936049, 20813266 Standard NM_152287 NM_152287 NA Approved MGC45417, ZNF477, CENPZ, CENP-Z, ZADT uc002fos.4 Q8N554 OTTHUMG00000138050 ENST00000443381.2:c.*201C>T chr16.hg19:g.89804855C>T NA Q0VGA1|Q2TBE8|Q3B7H7 hg19 CCDS45554.1 0.02 4.203471 ACTxGGG COVERED NOVEL ZNF276-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000422517.1 1 6.956151 KEEP 0 1 34 35 1186 CC 0.999999 0.999999 0 + 8 60 302 0 0 20.577914 137 60 4694 231 ENST00000443381.2 0.055172 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89805977 89805977 __UNKNOWN__ Intron SNP G G A rs1061646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89805977G>A ENST00000389301.3 - 40 3965 ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACACCAAGAAGTGGCTCAGGC 0.617 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia G||| 2695 0.538139 0.5825 0.5677 5008 , , NA 18825 0.7073 NA 0.3151 False NA ,,, NA NA NA 2504 0.5123 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 G ,, 1991,1987 509,973,507 14 13 13 ,, 2.3 0 16 dbSNP_86 13 2090,5676 362,1366,2155 no intron,utr-3,utr-3 FANCA,ZNF276 NM_000135.2,NM_001113525.1,NM_152287.3 ,, 871,2339,2662 AA,AG,GG 26.9122,49.9497,34.7497 ,, ,, 89805977 4081,7663 1989 3883 5872 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3935-16C>T chr16.hg19:g.89805977G>A NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 8.900127 GAAxTGG COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 2 12.942549 KEEP 0 0 0 43 1558 GG 1 1 0 - 8 60 302 0 0 19.245066 203 60 7751 331 ENST00000389301.3 0.037915 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89806347 89806347 __UNKNOWN__ Intron SNP A A T rs7195906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89806347A>T ENST00000389301.3 - 39 3965 ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CATTTGCAAGATGCCTCTGAA 0.448 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia T||| 3538 0.70647 0.8238 0.6081 5008 , , NA 19647 0.9871 NA 0.3926 False NA ,,, NA NA NA 2504 0.6513 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3934+54T>A chr16.hg19:g.89806347A>T NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 19.984489 AAGxTGC COVERED 1457 0.6671245421245421 392 0.7967479674796748 200 0.5524861878453039 565 0.9877622377622378 300 0.39577836411609496 T 6.413 0.444375 0.12164 . . ENSG00000187741 ENST00000305699 . . . 3.52 -3.42 0.04825 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.28202 -1.0051 6 0.87932 D 0 . 1.393 0.02254 0.1472:0.3166:0.2996:0.2366 rs7195906;rs17227368;rs17683197;rs59000599;rs7195906 307 B7Z6Y4 . N 307 . ENSP00000306281:I307N I - 2 0 FANCA 88333848 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.584000 0.05800 -1.192000 0.02691 -0.376000 0.06991 ATC NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 5 20.695475 KEEP 0 1 29 79 2503 AA 1 1 0 - 27 60 949 0 0 61.097375 520 60 18907 747 ENST00000389301.3 0.04936 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89809171 89809171 __UNKNOWN__ Intron SNP C C T rs34420680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89809171C>T ENST00000389301.3 - 37 3796 FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACCAAGCTTGCGAGAAAATAA 0.383 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia C||| 360 0.071885 0.0038 0.0202 5008 , , NA 17753 0.2579 NA 0.0646 False NA ,,, NA NA NA 2504 0.0164 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 C 75,4321 64.7+/-102.0 0,75,2123 65 55 58 0.1 0 16 dbSNP_126 58 698,7902 173.0+/-223.6 27,644,3629 no intron FANCA NM_000135.2 27,719,5752 TT,TC,CC 8.1163,1.7061,5.948 89809171 773,12223 2198 4300 6498 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3765+36G>A chr16.hg19:g.89809171C>T NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 8.75329 TTGxGAG COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 7 22.1912 KEEP 0 1 32 85 2948 CC 1 1 0 - 7 60 258 0 0 15.89284 198 60 7299 369 ENST00000389301.3 0.034146 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89811537 89811537 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89811537G>C ENST00000389301.3 - 36 3544 FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CACCTCCGCTGCCCCAGCCAT 0.597 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia NA NA NA NA NA NA NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.3514-58C>G chr16.hg19:g.89811537G>C NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 -0.420493 GCTxCCC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 0 3.30734 KEEP 0 0 0 11 353 GG 0.993072 0.941832 0 - 5 60 114 0 0 6.912057 43 60 1439 100 ENST00000389301.3 0.104167 0.948402 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89825065 89825065 __UNKNOWN__ Silent SNP G G A rs17226980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89825065G>A ENST00000389301.3 - 30 2931 c.2901C>T c.(2899-2901)tcC>tcT p.S967S FANCA_ENST00000568369.1_Silent_p.S967S NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 967 NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CTGAAGCCGAGGACTCAGGGA 0.537 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia G||| 361 0.0720847 0.0038 0.0187 5008 , , NA 22388 0.2599 NA 0.0646 False NA ,,, NA NA NA 2504 0.0164 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 G 76,4320 65.3+/-102.7 0,76,2122 121 110 114 2901 -4.4 0 16 dbSNP_123 114 696,7904 172.9+/-223.5 26,644,3630 no coding-synonymous FANCA NM_000135.2 26,720,5752 AA,AG,GG 8.093,1.7288,5.9403 967/1456 89825065 772,12224 2198 4300 6498 SO:0001819 synonymous_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.2901C>T chr16.hg19:g.89825065G>A NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 6.517238 CGAxGAC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 2 17.140324 KEEP 0 0 0 57 2035 GG 1 1 0 - 7 60 267 0 0 16.882021 192 60 7147 348 ENST00000389301.3 0.035176 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89831520 89831520 __UNKNOWN__ Intron SNP A A T rs11076620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89831520A>T ENST00000389301.3 - 28 2632 FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CGCAAGTTTCACTGTGAGTGG 0.537 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia A||| 359 0.0716853 0.0038 0.0187 5008 , , NA 23224 0.2589 NA 0.0636 False NA ,,, NA NA NA 2504 0.0164 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 A 76,4320 62.3+/-99.4 0,76,2122 28 28 28 -3 0 16 dbSNP_120 28 700,7900 170.3+/-221.5 27,646,3627 no intron FANCA NM_000135.2 27,722,5749 TT,TA,AA 8.1395,1.7288,5.9711 89831520 776,12220 2198 4300 6498 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.2602-46T>A chr16.hg19:g.89831520A>T NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 4.287835 TTCxCTG COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 1 6.317657 KEEP 0 0 0 21 640 AA 0.999869 0.999868 0 - 5 60 185 0 0 11.789969 119 60 4237 180 ENST00000389301.3 0.040323 0.999999 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89836323 89836323 __UNKNOWN__ Missense_Mutation SNP C C T rs7195066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89836323C>T ENST00000389301.3 - 26 2456 c.2426G>A c.(2425-2427)gGt>gAt p.G809D FANCA_ENST00000568369.1_Missense_Mutation_p.G809D NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 809 NA G -> D (common polymorphism; dbSNP:rs7195066). {ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890, ECO:0000269|Ref.4}. DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AAGGCCAGCACCAGGTGCAGG 0.617 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia T||| 3339 0.666733 0.7398 0.5821 5008 , , NA 17886 0.9881 NA 0.3221 False NA ,,, NA NA NA 2504 0.6513 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 T ASP/GLY 2895,1501 476.3+/-357.6 953,989,256 92 68 76 2426 -0.2 0 16 dbSNP_116 76 2702,5898 682.3+/-403.8 438,1826,2036 yes missense FANCA NM_000135.2 94 1391,2815,2292 TT,TC,CC 31.4186,34.1447,43.0671 benign 809/1456 89836323 5597,7399 2198 4300 6498 SO:0001583 missense Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.2426G>A chr16.hg19:g.89836323C>T ENSP00000373952:p.Gly809Asp NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 13.342556 GCAxCAG COVERED 1344 0.6153846153846154 348 0.7073170731707317 190 0.5248618784530387 565 0.9877622377622378 241 0.3179419525065963 T 3.507 -0.100499 0.06967 0.658553 0.314186 ENSG00000187741 ENST00000389301 D 0.84442 -1.85 3.13 -0.167 0.13347 . 0.597657 0.15671 N 0.250384 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.27054 -1.0085 9 0.18710 T 0.47 -0.0117 2.3692 0.04326 0.1117:0.3478:0.3548:0.1856 rs7195066;rs17233043;rs60022722;rs7195066 809;809 B4DRI7;O15360 .;FANCA_HUMAN D 809 ENSP00000373952:G809D ENSP00000373952:G809D G - 2 0 FANCA 88363824 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.305000 0.19254 -0.200000 0.10300 -1.562000 0.00884 GGT NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 1 14.446204 KEEP 0 0 0 48 1686 CC 1 1 0 - 16 60 578 0 0 38.17646 290 60 10597 420 ENST00000389301.3 0.052288 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89839766 89839766 __UNKNOWN__ Missense_Mutation SNP G G C rs17232910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89839766G>C ENST00000389301.3 - 22 1957 c.1927C>G c.(1927-1929)Ccc>Gcc p.P643A FANCA_ENST00000568369.1_Missense_Mutation_p.P643A|FANCA_ENST00000567284.2_5'UTR NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 643 NA P -> A (in dbSNP:rs17232910). DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GCAGAGTTGGGTTCTGCCCTC 0.542 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia G||| 371 0.0740815 0.0038 0.0202 5008 , , NA 17511 0.2698 NA 0.0626 False NA ,,, NA NA NA 2504 0.0174 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 G ALA/PRO 51,4029 0,51,1989 31 26 28 1927 -2.4 0 16 dbSNP_123 28 519,7361 11,497,3432 yes missense FANCA NM_000135.2 27 11,548,5421 CC,CG,GG 6.5863,1.25,4.7659 benign 643/1456 89839766 570,11390 2040 3940 5980 SO:0001583 missense Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.1927C>G chr16.hg19:g.89839766G>C ENSP00000373952:p.Pro643Ala NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 4.814621 TGGxTTC COVERED 190 0.08699633699633699 3 0.006097560975609756 10 0.027624309392265192 127 0.22202797202797203 50 0.06596306068601583 G 6.741 0.505585 0.12822 0.0125 0.065863 ENSG00000187741 ENST00000389301 D 0.83591 -1.74 3.82 -2.44 0.06502 . 0.752143 0.11984 N 0.510486 T 0.00039 0.0001 N 0.08118 0 0.53688 P 2.6999999999999247E-5 B;B 0.09022 0.002;0.001 B;B 0.04013 0.001;0.001 T 0.03706 -1.1011 9 0.07030 T 0.85 -10.2216 2.1006 0.03679 0.1027:0.3278:0.2668:0.3028 rs17232910 643;643 B4DRI7;O15360 .;FANCA_HUMAN A 643 ENSP00000373952:P643A ENSP00000373952:P643A P - 1 0 FANCA 88367267 0.000000 0.05858 0.000000 0.03702 0.085000 0.17905 -0.040000 0.12104 -0.163000 0.10946 -0.131000 0.14894 CCC NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 0 11.136459 KEEP 0 0 0 37 1319 GG 1 0.999999 0 - 5 60 195 0 0 12.845688 116 60 4259 216 ENST00000389301.3 0.041322 0.999999 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89842029 89842029 __UNKNOWN__ Intron SNP C C G rs3785275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89842029C>G ENST00000389301.3 - 21 1931 FANCA_ENST00000568369.1_Intron|FANCA_ENST00000567284.2_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACCCAAAGCACCGGCTTGAGC 0.582 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia C||| 2730 0.545128 0.5877 0.562 5008 , , NA 15180 0.7222 NA 0.3171 False NA ,,, NA NA NA 2504 0.5276 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.1900+120G>C chr16.hg19:g.89842029C>G NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 2.255784 GCAxCGG COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 0 3.611423 KEEP 0 0 0 12 420 CC 0.993634 0.991202 0 - 5 60 191 0 0 13.600941 67 60 2471 95 ENST00000389301.3 0.069444 0.997553 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89858505 89858505 __UNKNOWN__ Intron SNP T T C rs6500452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89858505T>C ENST00000389301.3 - 13 1114 FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CTCCCTTCAATATCCAAGCAA 0.532 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia T||| 2663 0.531749 0.5461 0.5548 5008 , , NA 21884 0.7292 NA 0.3171 False NA ,,, NA NA NA 2504 0.5133 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 T 2227,2169 590.3+/-387.3 548,1131,519 70 69 69 -7.9 0 16 dbSNP_116 69 2581,6019 419.4+/-353.1 402,1777,2121 no intron FANCA NM_000135.2 950,2908,2640 CC,CT,TT 30.0116,49.3403,36.996 89858505 4808,8188 2198 4300 6498 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.1084-29A>G chr16.hg19:g.89858505T>C NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 9.389589 CAAxATC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 2 19.555519 KEEP 0 0 0 65 1964 TT 1 1 0 - 8 60 302 0 0 18.873469 227 70 7993 375 ENST00000389301.3 0.034043 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89858525 89858525 __UNKNOWN__ Intron SNP C C G rs1800287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89858525C>G ENST00000389301.3 - 13 1114 FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACCAATGTGCGACAGATGAC 0.537 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia G||| 3519 0.702676 0.8207 0.598 5008 , , NA 21426 0.9871 NA 0.3897 False NA ,,, NA NA NA 2504 0.6462 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 G 3288,1108 399.0+/-331.0 1227,834,137 51 51 51 0.2 0 16 dbSNP_89 51 3364,5236 641.0+/-399.6 666,2032,1602 no intron FANCA NM_000135.2 1893,2866,1739 GG,GC,CC 39.1163,25.2047,48.815 89858525 6652,6344 2198 4300 6498 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.1084-49G>C chr16.hg19:g.89858525C>G NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 6.552588 GTGxGAC COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 2 3.819615 KEEP 0 3 107 50 1701 CC 1 1 0 - 9 60 329 0 0 21.361899 186 70 6326 304 ENST00000389301.3 0.046154 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89862434 89862434 __UNKNOWN__ Intron SNP T T C rs11648881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89862434T>C ENST00000389301.3 - 11 924 FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AACCTGCCAATGCAGCAGAAA 0.527 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia T||| 378 0.0754792 0.0045 0.0216 5008 , , NA 20068 0.2728 NA 0.0646 False NA ,,, NA NA NA 2504 0.0174 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 T 80,4316 67.6+/-105.2 0,80,2118 63 57 59 -10.1 0 16 dbSNP_120 59 706,7894 174.2+/-224.5 27,652,3621 no intron FANCA NM_000135.2 27,732,5739 CC,CT,TT 8.2093,1.8198,6.048 89862434 786,12210 2198 4300 6498 SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.894-8A>G chr16.hg19:g.89862434T>C NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 4.064174 CAAxGCA COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 0 6.319126 KEEP 0 0 0 21 659 TT 0.999869 0.99985 0 - 5 60 171 0 0 10.782436 99 60 3628 152 ENST00000389301.3 0.048077 0.999981 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89866043 89866043 __UNKNOWN__ Missense_Mutation SNP T T C rs7190823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89866043T>C ENST00000389301.3 - 9 826 c.796A>G c.(796-798)Acg>Gcg p.T266A FANCA_ENST00000389302.3_Missense_Mutation_p.T266A|FANCA_ENST00000534992.1_Missense_Mutation_p.T266A|FANCA_ENST00000543736.1_Missense_Mutation_p.T234A|FANCA_ENST00000563673.1_Missense_Mutation_p.T266A|FANCA_ENST00000568369.1_Missense_Mutation_p.T266A NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 266 NA T -> A (in dbSNP:rs7190823). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:9399890, ECO:0000269|Ref.4}. DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ACATCAACCGTGACCTGTCAA 0.358 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia C||| 3458 0.690495 0.7625 0.6037 5008 , , NA 21218 0.9871 NA 0.3956 False NA ,,, NA NA NA 2504 0.6524 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 C ALA/THR,ALA/THR 3190,1206 421.5+/-339.4 1151,888,159 147 127 134 796,796 1.9 0.1 16 dbSNP_116 134 3386,5214 640.8+/-399.6 677,2032,1591 yes missense,missense FANCA NM_000135.2,NM_001018112.1 58,58 1828,2920,1750 CC,CT,TT 39.3721,27.434,49.3998 benign,benign 266/1456,266/298 89866043 6576,6420 2198 4300 6498 SO:0001583 missense Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.796A>G chr16.hg19:g.89866043T>C ENSP00000373952:p.Thr266Ala NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 7.968973 CCGxGAC COVERED 1435 0.657051282051282 370 0.7520325203252033 199 0.5497237569060773 564 0.986013986013986 302 0.39841688654353563 C 0.399 -0.919409 0.02396 0.72566 0.393721 ENSG00000187741 ENST00000389301;ENST00000389302;ENST00000534992;ENST00000543736 T;T;T;T 0.37584 1.19;1.19;1.19;1.19 4.1 1.85 0.25348 . 0.674836 0.13063 N 0.416735 T 0.00012 0.0000 N 0.00162 -1.95 0.80722 P 0.0 B;B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0;0.0 B;B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0;0.0 T 0.29397 -1.0013 9 0.02654 T 1 -13.3596 5.1091 0.14800 0.4757:0.4147:0.0:0.1096 rs7190823;rs17232400;rs17669765;rs52833740;rs57464202;rs7190823 266;234;266;266;266;266 B4DRI7;Q0VAP4;A0PJU8;F5H8D5;O15360-2;O15360 .;.;.;.;.;FANCA_HUMAN A 266;266;266;234 ENSP00000373952:T266A;ENSP00000373953:T266A;ENSP00000443675:T266A;ENSP00000443409:T234A ENSP00000373952:T266A T - 1 0 FANCA 88393544 0.007000 0.16637 0.078000 0.20375 0.146000 0.21551 0.402000 0.20965 0.381000 0.24851 -0.222000 0.12452 ACG NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 1 14.441842 KEEP 0 0 0 48 1496 TT 1 1 0 - 7 60 252 0 0 14.695533 242 60 8746 376 ENST00000389301.3 0.028112 1 FANCA 2175 __UNKNOWN__ __UNKNOWN__ 16 89874628 89874628 __UNKNOWN__ Intron SNP C C T rs1800285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89874628C>T ENST00000389301.3 - 6 627 FANCA_ENST00000389302.3_Intron|FANCA_ENST00000534992.1_Intron|FANCA_ENST00000543736.1_Intron|FANCA_ENST00000563673.1_Intron|FANCA_ENST00000568369.1_Intron NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A NA NA DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CCGTCTGATTCTGGGCTTTGA 0.378 NA D, Mis, N, F, S AML, leukemia Involved in tolerance or repair of DNA crosslinks Fanconi Anemia T||| 3442 0.6873 0.7617 0.5965 5008 , , NA 16571 0.9871 NA 0.3976 False NA ,,, NA NA NA 2504 0.6401 NA NA NA yes Rec Fanconi anaemia A 16 16q24.3 2175 Fanconi anemia, complementation group A L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database Pancytopenia Dysmelia, FA (several complementation groups) Z83067 CCDS32515.1, CCDS42221.1, CCDS67099.1 16q24.3 2014-09-17 ENSG00000187741 ENSG00000187741 2175 Fanconi anemia, complementation groups 3582 protein-coding gene gene with protein product 607139 FACA, FANCH NA 7581462, 9382107 Standard NM_001286167 NA Approved FAA, FA-H, FAH uc002fou.1 O15360 ENST00000389301.3:c.596+73G>A chr16.hg19:g.89874628C>T NA A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2 hg19 CCDS32515.1 0.02 6.012392 ATTxTGG COVERED NOVEL FANCA-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000421927.1 0 7.825108 KEEP 0 0 0 26 906 CC 0.999957 0.999957 0 - 8 60 282 0 0 17.871266 169 60 6256 229 ENST00000389301.3 0.045198 1 TCF25 22980 __UNKNOWN__ __UNKNOWN__ 16 89970484 89970484 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89970484T>G ENST00000263346.8 + 13 1437 TCF25_ENST00000263347.7_Intron NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) NA NA heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) GTGGCTGGGGTGTGTGCTGAG 0.642 NA NA NA NA NA NA NA NA NA NA NA 0 20 18 18 NA NA 16 NA 89970484 2186 4294 6480 SO:0001627 intron_variant AF322111 CCDS10987.1 16q24.3 2008-02-05 ENSG00000141002 ENSG00000141002 22980 29181 protein-coding gene gene with protein product 612326 NA 12107429, 16574069 Standard NM_014972 NM_014972 NA Approved Nulp1, KIAA1049 uc002fpb.2 Q9BQ70 OTTHUMG00000138986 ENST00000263346.8:c.1382-42T>G chr16.hg19:g.89970484T>G NA Q2MK75|Q9UPV3 hg19 CCDS10987.1 0.02 0.870185 GGGxGTG COVERED NOVEL TCF25-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272875.2 0 7.782083 KEEP 0 1 8 29 729 TT 0.999997 0.998198 0 + 12 60 163 0 0 8.37097 61 60 1486 139 ENST00000263346.8 0.164384 0.9982 TUBB3 10381 __UNKNOWN__ __UNKNOWN__ 16 89986025 89986025 __UNKNOWN__ Missense_Mutation SNP T T C rs33932559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:89986025T>C ENST00000556922.1 + 1 453 c.359T>C c.(358-360)aTt>aCt p.I120T MC1R_ENST00000555427.1_Missense_Mutation_p.I120T|MC1R_ENST00000555147.1_Missense_Mutation_p.I120T Q13509 TBB3_HUMAN tubulin, beta 3 class III 0 NA 'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) Ixabepilone(DB04845) GACAATGTCATTGACGTGATC 0.642 NA T||| 42 0.00838658 0.0 0.0 5008 , , NA 19206 0.0417 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T THR/ILE 0,4392 0,0,2196 64 71 69 359 3.7 0 16 dbSNP_126 69 2,8596 2.2+/-6.3 0,2,4297 yes missense MC1R NM_002386.3 89 0,2,6493 CC,CT,TT 0.0233,0.0,0.0154 120/318 89986025 2,12988 2196 4299 6495 SO:0001583 missense BC000748 CCDS10988.1, CCDS56012.1 16q24.3 2014-02-04 2011-10-10 ENSG00000198211 ENSG00000198211 10381 Tubulins 20772 protein-coding gene gene with protein product class III beta-tubulin 602661 tubulin, beta 3, fibrosis of extraocular muscles, congenital, 3 FEOM3 NA 9473684, 8098743, 20074521 Standard NM_006086 NM_006086 NA Approved beta-4, CFEOM3, CFEOM3A uc002fph.2 Q13509 OTTHUMG00000138985 ENST00000556922.1:c.359T>C chr16.hg19:g.89986025T>C ENSP00000451560:p.Ile120Thr NA A8K854|Q9BTZ0|Q9BW10 hg19 0.02 19.132831 TCAxTGA COVERED 34 0.015567765567765568 0 0.0 0 0.0 34 0.05944055944055944 0 0.0 T 14.41 2.526833 0.44969 0.0 2.33E-4 ENSG00000258947;ENSG00000258947;ENSG00000258839 ENST00000555427;ENST00000556922;ENST00000555147 T;T;T 0.37411 1.2;1.2;1.2 4.81 3.71 0.42584 GPCR, rhodopsin-like superfamily (1); 0.446120 0.16255 N 0.222507 T 0.07638 0.0192 M 0.63843 1.955 0.42614 D 0.993322 P 0.39044 0.656 P 0.48982 0.597 T 0.00747 -1.1583 9 . . . . 9.3276 0.38001 0.0:0.0856:0.0:0.9144 rs33932559 120 Q01726 MSHR_HUMAN T 120 ENSP00000451760:I120T;ENSP00000451560:I120T;ENSP00000451605:I120T . I + 2 0 MC1R;RP11-566K11.2 88513526 1.000000 0.71417 0.008000 0.14137 0.084000 0.17831 6.131000 0.71670 0.707000 0.31934 0.374000 0.22700 ATT NOVEL TUBB3-001 NOVEL basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000412002.1 4 49.639541 KEEP 0 0 0 165 5038 TT 1 1 0 + 13 60 487 0 0 28.786151 483 60 17349 771 ENST00000556922.1 0.02621 1 DEF8 54849 __UNKNOWN__ __UNKNOWN__ 16 90021569 90021569 __UNKNOWN__ Intron SNP T T C rs62052225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90021569T>C ENST00000563594.1 + 4 1121 DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000567874.1_Intron NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) NA NA intracellular signal transduction (GO:0035556) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GTCCCCGTCTTCCTCCAGAGG 0.647 NA T||| 510 0.101837 0.121 0.0216 5008 , , NA 18272 0.2629 NA 0.0487 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 T ,,,,,,,, 458,3938 206.5+/-228.1 26,406,1766 61 61 61 ,,,,,,,, -5.3 0 16 dbSNP_129 61 489,8111 133.8+/-191.2 14,461,3825 no intron,intron,intron,intron,intron,intron,intron,intron,intron DEF8 NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2 ,,,,,,,, 40,867,5591 CC,CT,TT 5.686,10.4186,7.2869 ,,,,,,,, ,,,,,,,, 90021569 947,12049 2198 4300 6498 SO:0001627 intron_variant AK131370 CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1 16q24.3 2011-01-31 ENSG00000140995 ENSG00000140995 54849 25969 protein-coding gene gene with protein product NA 12477932 Standard NM_207514 NM_207514 NA Approved FLJ20186 uc002fpn.2 Q6ZN54 OTTHUMG00000138989 ENST00000563594.1:c.125-8T>C chr16.hg19:g.90021569T>C NA B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0 hg19 CCDS58493.1 0.02 2.117517 TCTxCCT COVERED NOVEL DEF8-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421870.1 0 5.715069 KEEP 0 0 0 19 540 TT 0.99986 0.993563 0 + 4 60 140 0 0 9.385983 61 60 2179 84 ENST00000563594.1 0.061538 0.993703 DEF8 54849 __UNKNOWN__ __UNKNOWN__ 16 90021685 90021685 __UNKNOWN__ Intron SNP A A G rs12597913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90021685A>G ENST00000563594.1 + 4 1219 DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000567874.1_Intron NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) NA NA intracellular signal transduction (GO:0035556) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GTAAGGTTTTAGATCTCGGAG 0.632 NA G||| 476 0.0950479 0.0893 0.0187 5008 , , NA 18641 0.2728 NA 0.0477 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G ,,,,,,,, 340,4056 792.6+/-415.2 17,306,1875 67 65 66 ,,,,,,,, 1 0 16 dbSNP_120 66 500,8100 795.9+/-407.5 14,472,3814 no intron,intron,intron,intron,intron,intron,intron,intron,intron DEF8 NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2 ,,,,,,,, 31,778,5689 GG,GA,AA 5.814,7.7343,6.4635 ,,,,,,,, ,,,,,,,, 90021685 840,12156 2198 4300 6498 SO:0001627 intron_variant AK131370 CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1 16q24.3 2011-01-31 ENSG00000140995 ENSG00000140995 54849 25969 protein-coding gene gene with protein product NA 12477932 Standard NM_207514 NM_207514 NA Approved FLJ20186 uc002fpn.2 Q6ZN54 OTTHUMG00000138989 ENST00000563594.1:c.222+11A>G chr16.hg19:g.90021685A>G NA B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0 hg19 CCDS58493.1 0.02 15.171334 TTTxGAT COVERED NOVEL DEF8-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421870.1 2 21.36165 KEEP 0 0 0 71 2197 AA 1 1 0 + 18 60 685 0 0 47.163751 296 60 10788 496 ENST00000563594.1 0.057325 1 DEF8 54849 __UNKNOWN__ __UNKNOWN__ 16 90025640 90025640 __UNKNOWN__ Intron SNP G G C rs8166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90025640G>C ENST00000563594.1 + 6 1511 DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000418391.2_Missense_Mutation_p.M197I|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000567874.1_Intron NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) NA NA intracellular signal transduction (GO:0035556) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) acattcAGATGtgagctatcc 0.507 NA C||| 609 0.121605 0.1021 0.0303 5008 , , NA 20366 0.2688 NA 0.0557 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 C ,,,,,ILE/MET,ILE/MET,ILE/MET, 278,2366 14,250,1058 23 33 29 ,,,,,591,591,591, -0.3 0 16 dbSNP_52 29 314,4304 9,296,2004 yes intron,intron,intron,intron,intron,missense,missense,missense,intron DEF8 NM_001242816.1,NM_001242817.1,NM_001242818.1,NM_001242819.1,NM_001242820.1,NM_001242821.1,NM_001242822.1,NM_017702.3,NM_207514.2 ,,,,,10,10,10, 23,546,3062 CC,CG,GG 6.7995,10.5144,8.152 ,,,,,,,, ,,,,,197/198,197/198,197/198, 90025640 592,6670 1322 2309 3631 SO:0001627 intron_variant AK131370 CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1 16q24.3 2011-01-31 ENSG00000140995 ENSG00000140995 54849 25969 protein-coding gene gene with protein product NA 12477932 Standard NM_207514 NM_207514 NA Approved FLJ20186 uc002fpn.2 Q6ZN54 OTTHUMG00000138989 ENST00000563594.1:c.514+77G>C chr16.hg19:g.90025640G>C NA B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0 hg19 CCDS58493.1 0.02 11.494111 GATxTGA COVERED 235 0.10760073260073261 55 0.11178861788617886 13 0.03591160220994475 122 0.21328671328671328 45 0.059366754617414245 C 2.530 -0.308796 0.05458 0.105144 0.067995 ENSG00000140995 ENST00000418391 T 0.40476 1.03 1.8 -0.313 0.12754 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30090 -0.9990 6 . . . . 2.9572 0.05881 0.0:0.4513:0.242:0.3067 rs8166;rs1130141;rs3188708 197 Q6ZN54-2 . I 197 ENSP00000412784:M197I . M + 3 0 DEF8 88553141 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -1.291000 0.02775 -0.402000 0.07633 -0.501000 0.04562 ATG NOVEL DEF8-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421870.1 1 11.419516 KEEP 0 0 0 38 1306 GG 1 1 0 + 10 60 375 0 0 23.397034 280 60 10578 384 ENST00000563594.1 0.034483 1 DEF8 54849 __UNKNOWN__ __UNKNOWN__ 16 90034117 90034117 __UNKNOWN__ 3'UTR SNP A A G rs62052244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90034117A>G ENST00000563594.1 + 0 4099 DEF8_ENST00000570182.1_3'UTR|DEF8_ENST00000268676.7_3'UTR NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) NA NA intracellular signal transduction (GO:0035556) zinc ion binding (GO:0008270) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) TGTCATATGGATATTAGCCAT 0.428 NA A||| 439 0.0876597 0.0484 0.0274 5008 , , NA 23238 0.2649 NA 0.0586 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131370 CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1 16q24.3 2011-01-31 ENSG00000140995 ENSG00000140995 54849 25969 protein-coding gene gene with protein product NA 12477932 Standard NM_207514 NM_207514 NA Approved FLJ20186 uc002fpn.2 Q6ZN54 OTTHUMG00000138989 ENST00000563594.1:c.*1746A>G chr16.hg19:g.90034117A>G NA B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0 hg19 CCDS58493.1 0.02 12.956622 TGGxTAT COVERED NOVEL DEF8-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000421870.1 1 9.601766 KEEP 0 0 0 32 958 AA 0.999997 0.999997 0 + 11 60 413 0 0 25.824037 305 60 10942 397 ENST00000563594.1 0.03481 1 AFG3L1P 172 __UNKNOWN__ __UNKNOWN__ 16 90048327 90048327 __UNKNOWN__ RNA SNP G G A rs45456401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90048327G>A ENST00000437774.1 + 0 658 NR_003226.1 AFG3-like AAA ATPase 1, pseudogene NA NA NA CTGGCCAGAGGTCTGGTGAGA 0.512 NA G||| 354 0.0706869 0.0038 0.0115 5008 , , NA 17885 0.2738 NA 0.0457 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 G 15,1369 0,15,677 139 124 129 4.6 1 16 dbSNP_127 129 191,2991 4,183,1404 no intergenic 4,198,2081 AA,AG,GG 6.0025,1.0838,4.5116 90048327 206,4360 692 1591 2283 AJ001495 16q24.3 2013-10-17 2013-10-17 2010-10-28 ENSG00000223959 ENSG00000223959 172 ATPases / AAA-type 314 pseudogene pseudogene 603020 AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene, AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene AFG3, AFG3L1 NA 9545647, 11549317 Standard NR_003226 NR_003228 NA Approved uc002fpz.1 OTTHUMG00000138987 ENST00000437774.1: chr16.hg19:g.90048327G>A NA hg19 0.02 8.519892 GAGxTCT COVERED NOVEL AFG3L1P-004 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000316791.1 3 18.360156 KEEP 0 0 0 61 2186 GG 1 1 0 + 12 60 446 0 0 29.574914 231 60 8593 375 ENST00000437774.1 0.049383 1 AFG3L1P 172 __UNKNOWN__ __UNKNOWN__ 16 90048379 90048379 __UNKNOWN__ RNA SNP T T C rs62052252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90048379T>C ENST00000437774.1 + 0 662 NR_003226.1 AFG3-like AAA ATPase 1, pseudogene NA NA NA GCCGCTGTAGTGGTGCACGTG 0.532 NA T||| 402 0.0802716 0.0356 0.0144 5008 , , NA 16979 0.2738 NA 0.0477 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 T 67,1317 2,63,627 87 76 80 -2.6 0 16 dbSNP_129 80 192,2990 4,184,1403 no intergenic 6,247,2030 CC,CT,TT 6.0339,4.841,5.6724 90048379 259,4307 692 1591 2283 AJ001495 16q24.3 2013-10-17 2013-10-17 2010-10-28 ENSG00000223959 ENSG00000223959 172 ATPases / AAA-type 314 pseudogene pseudogene 603020 AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene, AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene AFG3, AFG3L1 NA 9545647, 11549317 Standard NR_003226 NR_003228 NA Approved uc002fpz.1 OTTHUMG00000138987 ENST00000437774.1: chr16.hg19:g.90048379T>C NA hg19 0.02 4.94348 TAGxGGT COVERED NOVEL AFG3L1P-004 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000316791.1 2 9.626791 KEEP 0 0 0 32 1005 TT 0.999997 0.999997 0 + 5 60 185 0 0 11.705298 124 60 4498 179 ENST00000437774.1 0.03876 1 GAS8 2622 __UNKNOWN__ __UNKNOWN__ 16 90093969 90093969 __UNKNOWN__ Intron SNP T T C rs3743829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90093969T>C ENST00000268699.4 + 2 125 GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 NA NA cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317) Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514) endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) TGCCAAATGTTCCTGGGAGCA 0.502 NA C||| 3222 0.643371 0.5174 0.683 5008 , , NA 17360 0.9444 NA 0.505 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF050079 CCDS10992.1, CCDS67101.1, CCDS73932.1 16q24.3 2014-07-18 2003-01-16 2003-01-17 ENSG00000141013 ENSG00000141013 2622 4166 protein-coding gene gene with protein product 605178 growth arrest-specific 11 GAS11 NA 9790751 Standard NM_001481 NA Approved uc002fqi.1 O95995 OTTHUMG00000138988 ENST00000268699.4:c.4-75T>C chr16.hg19:g.90093969T>C NA B2RCT1|B7Z4U1|G3V1L5|Q2M234 hg19 CCDS10992.1 0.02 6.681046 TGTxCCT COVERED NOVEL GAS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272877.2 0 11.728238 KEEP 0 0 0 39 1111 TT 1 1 0 + 9 60 335 0 0 22.533898 160 60 5727 242 ENST00000268699.4 0.053254 1 GAS8 2622 __UNKNOWN__ __UNKNOWN__ 16 90097544 90097544 __UNKNOWN__ Intron SNP C C T rs4608335 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90097544C>T ENST00000268699.4 + 3 212 GAS8_ENST00000536122.1_Intron|GAS8_ENST00000540721.1_Intron NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 NA NA cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317) Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514) endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) ATTCTGTCTCCGGAGCTTCCT 0.398 NA C||| 1274 0.254393 0.1256 0.2968 5008 , , NA 18694 0.627 NA 0.1262 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF050079 CCDS10992.1, CCDS67101.1, CCDS73932.1 16q24.3 2014-07-18 2003-01-16 2003-01-17 ENSG00000141013 ENSG00000141013 2622 4166 protein-coding gene gene with protein product 605178 growth arrest-specific 11 GAS11 NA 9790751 Standard NM_001481 NA Approved uc002fqi.1 O95995 OTTHUMG00000138988 ENST00000268699.4:c.91-163C>T chr16.hg19:g.90097544C>T NA B2RCT1|B7Z4U1|G3V1L5|Q2M234 hg19 CCDS10992.1 0.02 13.211318 CTCxGGA COVERED NOVEL GAS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272877.2 1 19.261112 KEEP 0 0 0 64 2164 CC 1 1 0 + 10 60 381 0 0 23.539212 311 60 11009 452 ENST00000268699.4 0.031153 1 GAS8 2622 __UNKNOWN__ __UNKNOWN__ 16 90110284 90110284 __UNKNOWN__ 3'UTR SNP G G A rs3743821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90110284G>A ENST00000268699.4 + 0 2090 URAHP_ENST00000517889.1_RNA NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 NA NA cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317) Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514) endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) GCCAGCGTGCGGGAACGGGCA 0.642 NA G||| 1108 0.221246 0.0719 0.268 5008 , , NA 19964 0.6042 NA 0.1024 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF050079 CCDS10992.1, CCDS67101.1, CCDS73932.1 16q24.3 2014-07-18 2003-01-16 2003-01-17 ENSG00000141013 ENSG00000141013 2622 4166 protein-coding gene gene with protein product 605178 growth arrest-specific 11 GAS11 NA 9790751 Standard NM_001481 NA Approved uc002fqi.1 O95995 OTTHUMG00000138988 ENST00000268699.4:c.*531G>A chr16.hg19:g.90110284G>A NA B2RCT1|B7Z4U1|G3V1L5|Q2M234 hg19 CCDS10992.1 0.02 13.5709 TGCxGGA COVERED NOVEL GAS8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000272877.2 1 25.58166 KEEP 0 0 0 85 2928 GG 1 1 0 + 12 60 441 0 0 27.350389 325 60 11260 510 ENST00000268699.4 0.035608 1 TUBB8P7 197331 __UNKNOWN__ __UNKNOWN__ 16 90160377 90160377 __UNKNOWN__ RNA SNP C C T rs369371324 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90160377C>T ENST00000564451.1 + 0 700 tubulin, beta 8 class VIII pseudogene 7 NA NA NA TGGGTCGCTGCGCGTCTGCTC 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 16q24.3 2013-02-18 ENSG00000261812 ENSG00000261812 197331 42345 pseudogene pseudogene NA Standard NG_002334 NG_002334 NA Approved OTTHUMG00000172847 ENST00000564451.1: chr16.hg19:g.90160377C>T NA hg19 0.02 2.174976 CTGxGCG COVERED NOVEL TUBB8P7-004 KNOWN basic processed_transcript NA polymorphic_pseudogene OTTHUMT00000420856.1 2 10.834842 KEEP 6 0 0 36 1262 CC 0.999999 0.997162 0 + 7 60 216 0 0 15.448099 59 60 1990 155 ENST00000564451.1 0.106061 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 16 90246331 90246331 __UNKNOWN__ IGR SNP A A C rs200118869 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr16:90246331A>C NA NA FAM157C (1579 upstream) : AC137934.1 (6073 downstream) NA NA NA TTTAATACGTAAGAGTTACTG 0.259 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr16.hg19:g.90246331A>C NA hg19 0.02 -0.201781 CGTxAGA COVERED NOVEL 0 0 2.708094 KEEP 0 0 0 9 283 AA 0.99254 0.486885 0 4 20 149 0 0 12.193674 19 44 694 38 0.173913 0.490544 DOC2B 8447 __UNKNOWN__ __UNKNOWN__ 17 6115 6115 __UNKNOWN__ Silent SNP G G C rs61739713 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6115G>C ENST00000343572.7 - 6 975 c.819C>G c.(817-819)tcC>tcG p.S273S NM_003585.3 NP_003576 Q14184 DOC2B_HUMAN double C2-like domains, beta 273 C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Mediates interaction with STXBP3. {ECO:0000250}. NA calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion (GO:0032024)|positive regulation of vesicle fusion (GO:0031340)|protein localization (GO:0008104) cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021) calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215) endometrium(2)|ovary(1) 3 TGTACTTGAGGGAGATGAGGA 0.632 NA G||| 3628 0.724441 0.5212 0.804 5008 , , NA 18786 0.8591 NA 0.7326 False NA ,,, NA NA NA 2504 0.7955 NA NA NA NA 0 G 796,588 227,342,123 87 97 94 819 1.5 1 17 dbSNP_129 94 2343,839 864,615,112 no coding-synonymous DOC2B NM_003585.3 1091,957,235 CC,CG,GG 26.3671,42.4855,31.2527 273/413 6115 3139,1427 692 1591 2283 SO:0001819 synonymous_variant D70830 CCDS73934.1 17p13.3 2014-07-16 ENSG00000272636 ENSG00000272636 8447 Synaptotagmins 2986 protein-coding gene gene with protein product 604568 double C2-like domains, beta-like DOC2BL NA 7826360 Standard NM_003585 NM_003585 NA Approved uc010vpx.1 Q14184 OTTHUMG00000154415 ENST00000343572.7:c.819C>G chr17.hg19:g.6115G>C NA hg19 0.02 12.236444 GAGxGAG COVERED NOVEL DOC2B-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000335122.3 0 28.290788 KEEP 0 0 0 94 3276 GG 1 1 0 - 13 60 435 0 0 25.942435 317 60 11839 534 ENST00000343572.7 0.039394 1 NXN 64359 __UNKNOWN__ __UNKNOWN__ 17 703845 703845 __UNKNOWN__ 3'UTR SNP C C G rs376031497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:703845C>G ENST00000336868.3 - 0 1743 NXN_ENST00000538650.1_3'UTR|NXN_ENST00000575801.1_3'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin NA NA cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) AGAGCCCGAGCGGGACCCACC 0.667 NA c||| 2 0.000399361 0.0 0.0 5008 , , NA 14800 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10998.1, CCDS56013.1 17p13 2007-08-10 ENSG00000167693 ENSG00000167693 64359 18008 protein-coding gene gene with protein product 612895 NA Standard NM_022463 NA Approved FLJ12614, NRX uc002fsa.3 Q6DKJ4 OTTHUMG00000090307 ENST00000336868.3:c.*344G>C chr17.hg19:g.703845C>G NA B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1 hg19 CCDS10998.1 0.02 11.106927 GAGxGGG COVERED NOVEL NXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206669.1 1 38.753118 KEEP 0 0 0 129 4419 CC 1 1 0 - 10 60 376 0 0 23.338699 290 60 10224 547 ENST00000336868.3 0.033333 1 NXN 64359 __UNKNOWN__ __UNKNOWN__ 17 704017 704017 __UNKNOWN__ 3'UTR SNP A A G rs2474695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:704017A>G ENST00000336868.3 - 0 1571 NXN_ENST00000537628.2_3'UTR|NXN_ENST00000538650.1_3'UTR|NXN_ENST00000575801.1_3'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin NA NA cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) TGCTGATTCCACACCCCAGGG 0.622 NA N||| 3014 0.601837 0.4917 0.6628 5008 , , NA 16753 0.7937 NA 0.5755 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10998.1, CCDS56013.1 17p13 2007-08-10 ENSG00000167693 ENSG00000167693 64359 18008 protein-coding gene gene with protein product 612895 NA Standard NM_022463 NA Approved FLJ12614, NRX uc002fsa.3 Q6DKJ4 OTTHUMG00000090307 ENST00000336868.3:c.*172T>C chr17.hg19:g.704017A>G NA B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1 hg19 CCDS10998.1 0.02 10.904325 TCCxCAC COVERED NOVEL NXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206669.1 2 22.69657 KEEP 0 1 30 86 2581 AA 1 1 0 - 13 60 470 0 0 30.187948 276 60 9909 463 ENST00000336868.3 0.044983 1 NXN 64359 __UNKNOWN__ __UNKNOWN__ 17 704042 704042 __UNKNOWN__ 3'UTR SNP T T G rs655377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:704042T>G ENST00000336868.3 - 0 1546 NXN_ENST00000537628.2_3'UTR|NXN_ENST00000538650.1_3'UTR|NXN_ENST00000575801.1_3'UTR NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin NA NA cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GGCTGAGGAGTTTACTGCAGA 0.632 NA t||| 990 0.197684 0.0825 0.3069 5008 , , NA 16320 0.2331 NA 0.2565 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS10998.1, CCDS56013.1 17p13 2007-08-10 ENSG00000167693 ENSG00000167693 64359 18008 protein-coding gene gene with protein product 612895 NA Standard NM_022463 NA Approved FLJ12614, NRX uc002fsa.3 Q6DKJ4 OTTHUMG00000090307 ENST00000336868.3:c.*147A>C chr17.hg19:g.704042T>G NA B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1 hg19 CCDS10998.1 0.02 11.237133 GAGxTTA COVERED NOVEL NXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206669.1 2 19.857644 KEEP 0 0 0 66 2089 TT 1 1 0 - 13 60 446 0 0 28.481836 261 60 9022 402 ENST00000336868.3 0.047445 1 NXN 64359 __UNKNOWN__ __UNKNOWN__ 17 706862 706862 __UNKNOWN__ Intron SNP G G C rs598974 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:706862G>C ENST00000336868.3 - 7 1217 NXN_ENST00000537628.2_Intron|NXN_ENST00000538650.1_Intron|NXN_ENST00000575801.1_Intron NM_022463.4 NP_071908.2 Q6DKJ4 NXN_HUMAN nucleoredoxin NA NA cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|nucleus (GO:0005634) protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1) 13 UCEC - Uterine corpus endometrioid carcinoma (25;0.0237) GCCAGGATCAGTCCTGTGCCA 0.612 NA c||| 2370 0.473243 0.6581 0.5274 5008 , , NA 15371 0.3661 NA 0.4205 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS10998.1, CCDS56013.1 17p13 2007-08-10 ENSG00000167693 ENSG00000167693 64359 18008 protein-coding gene gene with protein product 612895 NA Standard NM_022463 NA Approved FLJ12614, NRX uc002fsa.3 Q6DKJ4 OTTHUMG00000090307 ENST00000336868.3:c.1125+59C>G chr17.hg19:g.706862G>C NA B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1 hg19 CCDS10998.1 0.02 3.927165 TCAxTCC COVERED NOVEL NXN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206669.1 0 9.930913 KEEP 0 0 0 33 1144 GG 0.999998 0.999997 0 - 6 60 221 0 0 14.386873 125 60 4634 201 ENST00000336868.3 0.045802 1 ABR 29 __UNKNOWN__ __UNKNOWN__ 17 925764 925764 __UNKNOWN__ Intron SNP A A G rs2663345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:925764A>G ENST00000302538.5 - 17 1938 ABR_ENST00000544583.2_Intron|ABR_ENST00000574437.1_Intron|MIR3183_ENST00000578566.1_RNA|ABR_ENST00000536794.2_Intron|ABR_ENST00000291107.2_Intron|ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Intron NM_001282149.1|NM_021962.3 NP_001269078.1|NP_068781.2 Q12979 ABR_HUMAN active BCR-related NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CGTCAACGTGACTGCTCCGAG 0.692 NA g||| 2522 0.503594 0.7481 0.5951 5008 , , NA 17849 0.4067 NA 0.3419 False NA ,,, NA NA NA 2504 0.3742 NA NA NA Esophageal Squamous(197;2016 2115 4129 29033 46447) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L19704 CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1 17p13 2013-01-10 2012-02-27 ENSG00000159842 ENSG00000159842 29 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 81 protein-coding gene gene with protein product 600365 active BCR-related gene NA 2587217, 7479768 Standard NM_001092 NA Approved MDB uc002fsd.4 Q12979 OTTHUMG00000090313 ENST00000302538.5:c.1792-9360T>C chr17.hg19:g.925764A>G NA B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694 hg19 CCDS10999.1 0.02 4.129942 GTGxCTG COVERED NOVEL ABR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206675.4 1 7.522307 KEEP 0 0 0 25 772 AA 0.999931 0.999931 0 - 6 60 215 0 0 13.593001 135 60 4693 186 ENST00000302538.5 0.042553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 1167232 1167232 __UNKNOWN__ IGR SNP G G A rs11870408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1167232G>A NA NA AC144836.1 (9938 upstream) : BHLHA9 (6620 downstream) NA NA NA gtttcaccatgttggcctgac 0.572 NA G||| 2588 0.516773 0.4781 0.4697 5008 , , NA 16290 0.63 NA 0.4702 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.1167232G>A NA hg19 0.02 -0.026317 CATxTTG UNCOVERED NOVEL 0 12 2.542737 KEEP 7 1 33 20 659 GG 0.997832 0 0 3 60 103 0 0 11.730733 0 0 0 35 1 0 SCARF1 8578 __UNKNOWN__ __UNKNOWN__ 17 1538083 1538083 __UNKNOWN__ Missense_Mutation SNP A A G rs142148792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1538083A>G ENST00000263071.4 - 11 2511 c.2462T>C c.(2461-2463)gTt>gCt p.V821A SCARF1_ENST00000348987.3_Missense_Mutation_p.V735A|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 821 NA cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165) endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888) cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GATGGGTACAACATTCTCATA 0.557 NA A||| 25 0.00499201 0.0008 0.0288 5008 , , NA 18436 0.003 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 ALA/VAL,,ALA/VAL 2,4404 4.2+/-10.8 0,2,2201 156 169 165 2462,,2204 5.1 0.9 17 dbSNP_134 165 5,8595 4.3+/-15.6 0,5,4295 yes missense,utr-3,missense SCARF1 NM_003693.2,NM_145350.1,NM_145352.2 64,,64 0,7,6496 GG,GA,AA 0.0581,0.0454,0.0538 possibly-damaging,,possibly-damaging 821/831,,735/745 1538083 7,12999 2203 4300 6503 SO:0001583 missense D63483 CCDS11007.1, CCDS45564.1 17p13.3 2008-07-18 ENSG00000074660 ENSG00000074660 8578 16820 protein-coding gene gene with protein product scavenger receptor expressed by endothelial cells, acetyl LDL receptor 607873 NA 9395444, 8590280 Standard NM_003693 NM_003693 NA Approved SREC, KIAA0149 uc002fsz.2 Q14162 OTTHUMG00000090555 ENST00000263071.4:c.2462T>C chr17.hg19:g.1538083A>G ENSP00000263071:p.Val821Ala NA A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5 hg19 CCDS11007.1 0.02 24.695317 ACAxCAT COVERED 13 0.005952380952380952 1 0.0020325203252032522 10 0.027624309392265192 1 0.0017482517482517483 1 0.0013192612137203166 a 12.49 1.953214 0.34471 4.54E-4 5.81E-4 ENSG00000074660 ENST00000263071;ENST00000348987 T;T 0.26957 1.7;2.33 5.11 5.11 0.69529 . 0.000000 0.38058 N 0.001839 T 0.08447 0.0210 L 0.32530 0.975 0.26480 N 0.975134 P;P 0.44139 0.827;0.734 B;B 0.43331 0.416;0.237 T 0.03863 -1.0997 10 0.48119 T 0.1 -9.2244 12.3108 0.54927 1.0:0.0:0.0:0.0 . 735;821 Q14162-2;Q14162 .;SREC_HUMAN A 821;735 ENSP00000263071:V821A;ENSP00000323964:V735A ENSP00000263071:V821A V - 2 0 SCARF1 1484833 0.982000 0.34865 0.893000 0.35052 0.196000 0.23810 3.458000 0.53014 1.933000 0.56026 0.393000 0.25936 GTT NOVEL SCARF1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000207081.4 4 28.284465 KEEP 0 0 0 94 2959 AA 1 1 0 - 16 60 609 0 0 36.784107 561 60 19997 817 ENST00000263071.4 0.02773 1 SERPINF1 5176 __UNKNOWN__ __UNKNOWN__ 17 1678338 1678338 __UNKNOWN__ Intron SNP A A T rs3891224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1678338A>T ENST00000254722.4 + 6 806 NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 NA NA aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) serine-type endopeptidase inhibitor activity (GO:0004867) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 ACTATGTCATACACTTCTTTC 0.517 NA T||| 820 0.163738 0.3608 0.147 5008 , , NA 16657 0.127 NA 0.0368 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 T 1321,3085 695.3+/-405.9 192,937,1074 71 71 71 -2.6 0 17 dbSNP_108 71 418,8182 801.0+/-407.4 10,398,3892 no intron SERPINF1 NM_002615.5 202,1335,4966 TT,TA,AA 4.8605,29.9818,13.3708 1678338 1739,11267 2203 4300 6503 SO:0001627 intron_variant M76979 CCDS11012.1 17p13.3 2014-02-18 2005-08-18 ENSG00000132386 ENSG00000132386 5176 Serine (or cysteine) peptidase inhibitors 8824 protein-coding gene gene with protein product pigment epithelium-derived factor, proliferation-inducing protein 35 172860 serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 PEDF NA 8434014, 24172014 Standard NM_002615 NM_002615 NA Approved EPC-1, PIG35 uc002ftl.3 P36955 OTTHUMG00000090571 ENST00000254722.4:c.644-14A>T chr17.hg19:g.1678338A>T NA F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4 hg19 CCDS11012.1 0.02 1.819273 CATxCAC COVERED NOVEL SERPINF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207109.4 1 17.147824 KEEP 0 0 0 57 1748 AA 1 0.999956 0 + 6 60 202 0 0 13.246952 93 60 3331 200 ENST00000254722.4 0.060606 0.999956 SMYD4 114826 __UNKNOWN__ __UNKNOWN__ 17 1687560 1687560 __UNKNOWN__ Intron SNP C C T rs9892714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1687560C>T ENST00000305513.7 - 8 2188 NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 NA NA metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 GAGTCCAAAACGGTATCAGAA 0.502 NA OREG0024075 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 669 0.133586 0.2542 0.1354 5008 , , NA 2049 0.128 NA 0.0368 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB067523 CCDS11013.1 17p13.3 2004-04-21 ENSG00000186532 ENSG00000186532 114826 Zinc fingers, MYND-type 21067 protein-coding gene gene with protein product NA 11572484 Standard XM_056082 NM_052928 NA Approved KIAA1936, ZMYND21 uc002ftm.4 Q8IYR2 OTTHUMG00000090570 ENST00000305513.7:c.2020+59G>A chr17.hg19:g.1687560C>T 597 Q8N1P2|Q8NAT0|Q96LV4|Q96PV2 hg19 CCDS11013.1 0.02 4.326636 AAAxGGT COVERED NOVEL SMYD4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207108.4 0 28.021071 KEEP 0 1 22 101 3421 CC 1 1 0 - 9 60 339 0 0 23.960458 122 60 4330 278 ENST00000305513.7 0.068702 1 RPA1 6117 __UNKNOWN__ __UNKNOWN__ 17 1792174 1792174 __UNKNOWN__ Intron SNP G G A rs2270412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1792174G>A ENST00000254719.5 + 14 1661 NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa NA NA base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697) breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TGAGAACCACGGTTGTGTTCA 0.522 NA Nucleotide excision repair (NER) G||| 850 0.169728 0.0091 0.2118 5008 , , NA 22141 0.2867 NA 0.2237 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 G 178,4228 115.0+/-153.0 5,168,2030 59 51 54 -0.6 0 17 dbSNP_100 54 1793,6807 323.4+/-316.0 172,1449,2679 no intron RPA1 NM_002945.3 177,1617,4709 AA,AG,GG 20.8488,4.0399,15.1545 1792174 1971,11035 2203 4300 6503 SO:0001627 intron_variant M63488 CCDS11014.1 17p13.3 2008-02-05 2002-08-29 ENSG00000132383 ENSG00000132383 6117 10289 protein-coding gene gene with protein product 179835 replication protein A1 (70kD) NA 8454588 Standard NM_002945 NM_002945 NA Approved REPA1, RPA70, HSSB, RF-A, RP-A uc002fto.2 P27694 OTTHUMG00000090579 ENST00000254719.5:c.1551+29G>A chr17.hg19:g.1792174G>A NA A8K0Y9|Q59ES9 hg19 CCDS11014.1 0.02 4.276818 CACxGTT COVERED NOVEL RPA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207118.2 1 8.963596 KEEP 0 1 32 41 1423 GG 1 1 0 + 5 60 181 0 0 11.000749 143 60 5221 240 ENST00000254719.5 0.033784 1 DPH1 1801 __UNKNOWN__ __UNKNOWN__ 17 1942861 1942861 __UNKNOWN__ Intron SNP C C T rs7207466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1942861C>T ENST00000263083.6 + 7 740 DPH1_ENST00000570477.1_Intron NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 NA NA cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 ttagtagagacggggtttcac 0.577 NA C||| 3794 0.757588 0.6626 0.8458 5008 , , NA 14677 0.9236 NA 0.7247 False NA ,,, NA NA NA 2504 0.6861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant S81752 CCDS42228.1 17p13.3 2013-05-02 2013-05-02 2005-06-03 ENSG00000108963 ENSG00000108963 1801 3003 protein-coding gene gene with protein product ovarian tumor suppressor candidate 1 603527 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae) DPH2L, DPH2L1 NA 8603384, 15485916, 22869748 Standard NM_001383 NM_001383 NA Approved OVCA1 uc002fts.3 Q9BZG8 OTTHUMG00000177724 ENST00000263083.6:c.696-188C>T chr17.hg19:g.1942861C>T NA D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0 hg19 CCDS42228.1 0.02 1.918045 AGAxGGG COVERED NOVEL DPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438660.1 1 6.018751 KEEP 0 0 0 20 665 CC 0.999863 0.993566 0 + 4 43 139 0 0 9.2854 61 60 2201 85 ENST00000263083.6 0.061538 0.993703 DPH1 1801 __UNKNOWN__ __UNKNOWN__ 17 1943606 1943606 __UNKNOWN__ Missense_Mutation SNP G G T rs199982638 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1943606G>T ENST00000263083.6 + 8 904 c.859G>T c.(859-861)Gct>Tct p.A287S DPH1_ENST00000570477.1_Missense_Mutation_p.A207S NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 287 NA cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 TGCCCGCTCAGCTAAGTCCTG 0.577 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 20138 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 62 64 64 NA NA 17 NA 1943606 2001 4163 6164 SO:0001583 missense S81752 CCDS42228.1 17p13.3 2013-05-02 2013-05-02 2005-06-03 ENSG00000108963 ENSG00000108963 1801 3003 protein-coding gene gene with protein product ovarian tumor suppressor candidate 1 603527 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae) DPH2L, DPH2L1 NA 8603384, 15485916, 22869748 Standard NM_001383 NM_001383 NA Approved OVCA1 uc002fts.3 Q9BZG8 OTTHUMG00000177724 ENST00000263083.6:c.859G>T chr17.hg19:g.1943606G>T ENSP00000263083:p.Ala287Ser NA D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0 hg19 CCDS42228.1 0.02 6.026849 TCAxCTA COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 16.79 3.220504 0.58560 . . ENSG00000108963 ENST00000263083 T 0.54071 0.59 5.12 5.12 0.69794 . 0.053518 0.85682 D 0.000000 T 0.59197 0.2176 M 0.68952 2.095 0.80722 D 1 P;P;B 0.41498 0.752;0.752;0.41 P;B;B 0.44647 0.456;0.401;0.241 T 0.62469 -0.6848 10 0.48119 T 0.1 -5.08 17.1373 0.86743 0.0:0.0:1.0:0.0 . 297;297;287 E7ENH3;B4DNK0;Q9BZG8 .;.;DPH1_HUMAN S 287 ENSP00000263083:A287S ENSP00000263083:A287S A + 1 0 DPH1 1890356 1.000000 0.71417 0.979000 0.43373 0.035000 0.12851 6.152000 0.71812 2.380000 0.81148 0.491000 0.48974 GCT NOVEL DPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438660.1 3 22.874005 KEEP 0 0 0 76 2709 GG 1 1 0 + 6 60 211 0 0 12.795017 158 60 5886 274 ENST00000263083.6 0.036585 1 DPH1 1801 __UNKNOWN__ __UNKNOWN__ 17 1943888 1943888 __UNKNOWN__ Silent SNP T T C rs2236375 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1943888T>C ENST00000263083.6 + 9 1056 c.1011T>C c.(1009-1011)ccT>ccC p.P337P DPH1_ENST00000570477.1_Silent_p.P257P NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 337 NA cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCCTACTTCCTGAGGTGGATG 0.537 NA C||| 4090 0.816693 0.8321 0.8761 5008 , , NA 22382 0.9306 NA 0.7575 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 C 3267,747 1330,607,70 92 85 87 1011 -10.7 0.1 17 dbSNP_98 87 6472,1854 2503,1466,194 no coding-synonymous DPH1 NM_001383.3 3833,2073,264 CC,CT,TT 22.2676,18.6099,21.0778 337/444 1943888 9739,2601 2007 4163 6170 SO:0001819 synonymous_variant S81752 CCDS42228.1 17p13.3 2013-05-02 2013-05-02 2005-06-03 ENSG00000108963 ENSG00000108963 1801 3003 protein-coding gene gene with protein product ovarian tumor suppressor candidate 1 603527 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae) DPH2L, DPH2L1 NA 8603384, 15485916, 22869748 Standard NM_001383 NM_001383 NA Approved OVCA1 uc002fts.3 Q9BZG8 OTTHUMG00000177724 ENST00000263083.6:c.1011T>C chr17.hg19:g.1943888T>C NA D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0 hg19 CCDS42228.1 0.02 11.881384 TCCxGAG COVERED NOVEL DPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438660.1 4 35.8411 KEEP 0 1 34 131 4163 TT 1 1 0 + 15 60 476 0 0 28.434671 310 60 11588 585 ENST00000263083.6 0.046154 1 DPH1 1801 __UNKNOWN__ __UNKNOWN__ 17 1945041 1945041 __UNKNOWN__ Intron SNP A A G rs7216804 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:1945041A>G ENST00000263083.6 + 12 1287 DPH1_ENST00000570477.1_Intron NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 NA NA cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCGAGACCCTAACCAAAGTCT 0.706 NA G||| 4114 0.821486 0.8343 0.8818 5008 , , NA 14806 0.9306 NA 0.7624 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NA 0 G 3322,714 1373,576,69 9 12 11 -2.4 0 17 dbSNP_116 11 6461,1837 2523,1415,211 no intron DPH1 NM_001383.3 3896,1991,280 GG,GA,AA 22.1379,17.6908,20.6827 1945041 9783,2551 2018 4149 6167 SO:0001627 intron_variant S81752 CCDS42228.1 17p13.3 2013-05-02 2013-05-02 2005-06-03 ENSG00000108963 ENSG00000108963 1801 3003 protein-coding gene gene with protein product ovarian tumor suppressor candidate 1 603527 diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae), DPH-like 1 (S. cerevisiae), DPH1 homolog (S. cerevisiae) DPH2L, DPH2L1 NA 8603384, 15485916, 22869748 Standard NM_001383 NM_001383 NA Approved OVCA1 uc002fts.3 Q9BZG8 OTTHUMG00000177724 ENST00000263083.6:c.1243-21A>G chr17.hg19:g.1945041A>G NA D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0 hg19 CCDS42228.1 0.02 16.405693 CCTxACC COVERED NOVEL DPH1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438660.1 0 65.297239 KEEP 0 6 202 288 8414 AA 1 1 0 + 20 60 733 0 0 48.522264 379 60 13335 902 ENST00000263083.6 0.050125 1 SMG6 23293 __UNKNOWN__ __UNKNOWN__ 17 2091765 2091765 __UNKNOWN__ Missense_Mutation SNP C C T rs903160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:2091765C>T ENST00000263073.6 - 11 2964 c.2914G>A c.(2914-2916)Gca>Aca p.A972T SMG6_ENST00000354901.4_Missense_Mutation_p.A64T|SMG6_ENST00000544865.1_Missense_Mutation_p.A941T|SMG6_ENST00000536871.2_Missense_Mutation_p.A64T NM_017575.4 NP_060045.4 Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 972 NA A -> T (in dbSNP:rs903160). gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697) endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCCAGAGCTGCGGCTTGTTCC 0.587 NA C||| 2022 0.403754 0.5499 0.3012 5008 , , NA 20170 0.3264 NA 0.3091 False NA ,,, NA NA NA 2504 0.456 NA NA NA Melanoma(59;28 1088 11621 25887 46638 50814) NA 0 C THR/ALA,THR/ALA 2166,2240 583.1+/-385.7 532,1102,569 63 57 59 2821,2914 2.5 1 17 dbSNP_86 59 2644,5956 426.6+/-355.3 424,1796,2080 yes missense,missense SMG6 NM_001170957.1,NM_017575.4 58,58 956,2898,2649 TT,TC,CC 30.7442,49.1602,36.9829 benign,benign 941/1389,972/1420 2091765 4810,8196 2203 4300 6503 SO:0001583 missense AB018275 CCDS11016.1, CCDS58498.1 17p13.3 2013-07-02 2013-07-02 2006-02-16 ENSG00000070366 ENSG00000070366 23293 17809 protein-coding gene gene with protein product EST1 telomerase component homolog A (S. cerevisiae) 610963 chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) C17orf31 NA 12676087, 12699629 Standard NM_017575 NA Approved KIAA0732, SMG-6, EST1A uc002fub.1 Q86US8 OTTHUMG00000177578 ENST00000263073.6:c.2914G>A chr17.hg19:g.2091765C>T ENSP00000263073:p.Ala972Thr NA B7Z874|O94837|Q86VH6|Q9UF60 hg19 CCDS11016.1 0.02 12.554074 CTGxGGC COVERED 775 0.35485347985347987 268 0.5447154471544715 109 0.3011049723756906 158 0.2762237762237762 240 0.316622691292876 C 13.05 2.122399 0.37436 0.491602 0.307442 ENSG00000070366 ENST00000263073;ENST00000544865;ENST00000536871 T;T;T 0.28069 1.63;1.63;1.63 4.64 2.5 0.30297 . 0.140304 0.46145 D 0.000318 T 0.00012 0.0000 N 0.02539 -0.55 0.34659 P 0.277548 B 0.02656 0.0 B 0.04013 0.001 T 0.46076 -0.9217 9 0.23891 T 0.37 -5.3127 4.3033 0.10935 0.0:0.5427:0.0:0.4573 rs903160;rs52800764;rs56856254;rs903160 972 Q86US8 EST1A_HUMAN T 972;941;64 ENSP00000263073:A972T;ENSP00000443920:A941T;ENSP00000440283:A64T ENSP00000263073:A972T A - 1 0 SMG6 2038515 0.996000 0.38824 0.997000 0.53966 0.992000 0.81027 1.791000 0.38744 1.176000 0.42840 0.561000 0.74099 GCA NOVEL SMG6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437826.3 2 59.5541 KEEP 0 2 57 218 7571 CC 1 1 0 - 15 60 516 0 0 32.101651 324 60 11838 697 ENST00000263073.6 0.044248 1 SMG6 23293 __UNKNOWN__ __UNKNOWN__ 17 2186100 2186100 __UNKNOWN__ Silent SNP C C T rs749240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:2186100C>T ENST00000263073.6 - 8 2552 c.2502G>A c.(2500-2502)caG>caA p.Q834Q SMG6_ENST00000544865.1_Silent_p.Q803Q NM_017575.4 NP_060045.4 Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 834 NA gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723) chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697) endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTTTCCGCCACTGGTCAGGGC 0.502 NA T||| 2135 0.426318 0.6914 0.3573 5008 , , NA 22864 0.2371 NA 0.3618 False NA ,,, NA NA NA 2504 0.3783 NA NA NA Melanoma(59;28 1088 11621 25887 46638 50814) NA 0 T , 2686,1720 517.8+/-369.5 821,1044,338 126 119 121 2409,2502 -10.5 0.2 17 dbSNP_86 121 3004,5596 664.9+/-402.2 542,1920,1838 no coding-synonymous,coding-synonymous SMG6 NM_001170957.1,NM_017575.4 , 1363,2964,2176 TT,TC,CC 34.9302,39.0377,43.749 , 803/1389,834/1420 2186100 5690,7316 2203 4300 6503 SO:0001819 synonymous_variant AB018275 CCDS11016.1, CCDS58498.1 17p13.3 2013-07-02 2013-07-02 2006-02-16 ENSG00000070366 ENSG00000070366 23293 17809 protein-coding gene gene with protein product EST1 telomerase component homolog A (S. cerevisiae) 610963 chromosome 17 open reading frame 31, smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) C17orf31 NA 12676087, 12699629 Standard NM_017575 NA Approved KIAA0732, SMG-6, EST1A uc002fub.1 Q86US8 OTTHUMG00000177578 ENST00000263073.6:c.2502G>A chr17.hg19:g.2186100C>T NA B7Z874|O94837|Q86VH6|Q9UF60 hg19 CCDS11016.1 0.02 8.89471 CCAxTGG COVERED NOVEL SMG6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437826.3 0 17.792462 KEEP 0 1 34 71 2554 CC 1 1 0 - 17 60 622 1 0 44.220132 206 60 7864 377 ENST00000263073.6 0.076233 1 CLUH 23277 __UNKNOWN__ __UNKNOWN__ 17 2595964 2595964 __UNKNOWN__ Silent SNP G G A rs2302199 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:2595964G>A ENST00000570628.2 - 21 3327 c.3222C>T c.(3220-3222)gcC>gcT p.A1074A CLUH_ENST00000538975.1_Silent_p.A1074A|CLUH_ENST00000435359.1_Silent_p.A1074A O75153 CLU_HUMAN clustered mitochondria (cluA/CLU1) homolog 1074 NA intracellular distribution of mitochondria (GO:0048312) cytoplasm (GO:0005737) NA GCTGGCTGCTGGCGAAGCAGT 0.721 NA G||| 2291 0.457468 0.5219 0.3689 5008 , , NA 14392 0.501 NA 0.4235 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 G 2207,2129 583,1041,544 21 28 26 3222 3.2 1 17 dbSNP_100 26 3114,5350 599,1916,1717 no coding-synonymous KIAA0664 NM_015229.3 1182,2957,2261 AA,AG,GG 36.7911,49.1006,41.5703 1074/1310 2595964 5321,7479 2168 4232 6400 SO:0001819 synonymous_variant AB014564 CCDS45572.1 17p13.3 2012-12-18 2012-11-30 2012-11-30 ENSG00000132361 ENSG00000132361 23277 29094 protein-coding gene gene with protein product KIAA0664 KIAA0664 NA Standard NM_015229 XM_005256567 NA Approved CLU1 uc002fuy.1 O75153 OTTHUMG00000177575 ENST00000570628.2:c.3222C>T chr17.hg19:g.2595964G>A NA Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979 hg19 CCDS45572.1 0.02 3.977498 GCTxGCG COVERED NOVEL CLUH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437807.2 0 13.277829 KEEP 0 1 31 55 1933 GG 1 1 0 - 6 60 205 0 0 12.474747 142 60 5288 259 ENST00000570628.2 0.040541 1 CLUH 23277 __UNKNOWN__ __UNKNOWN__ 17 2600186 2600186 __UNKNOWN__ Missense_Mutation SNP G G A rs11078312 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:2600186G>A ENST00000570628.2 - 11 2003 c.1898C>T c.(1897-1899)gCc>gTc p.A633V CLUH_ENST00000538975.1_Missense_Mutation_p.A633V|CLUH_ENST00000435359.1_Missense_Mutation_p.A633V O75153 CLU_HUMAN clustered mitochondria (cluA/CLU1) homolog 633 NA A -> V (in dbSNP:rs11078312). {ECO:0000269|PubMed:15489334}. intracellular distribution of mitochondria (GO:0048312) cytoplasm (GO:0005737) NA CAGCTGGCTGGCGTTCTGCTG 0.602 NA G||| 956 0.190895 0.0295 0.1254 5008 , , NA 17883 0.3502 NA 0.1213 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 G VAL/ALA 166,3830 1,164,1833 23 25 25 1898 5.7 1 17 dbSNP_120 25 891,7477 42,807,3335 yes missense KIAA0664 NM_015229.3 64 43,971,5168 AA,AG,GG 10.6477,4.1542,8.549 benign 633/1310 2600186 1057,11307 1998 4184 6182 SO:0001583 missense AB014564 CCDS45572.1 17p13.3 2012-12-18 2012-11-30 2012-11-30 ENSG00000132361 ENSG00000132361 23277 29094 protein-coding gene gene with protein product KIAA0664 KIAA0664 NA Standard NM_015229 XM_005256567 NA Approved CLU1 uc002fuy.1 O75153 OTTHUMG00000177575 ENST00000570628.2:c.1898C>T chr17.hg19:g.2600186G>A ENSP00000458986:p.Ala633Val NA Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979 hg19 CCDS45572.1 0.02 1.985903 CTGxCGT COVERED 355 0.16254578754578755 22 0.044715447154471545 41 0.1132596685082873 203 0.3548951048951049 89 0.11741424802110818 G 17.41 3.383584 0.61845 0.041542 0.106477 ENSG00000132361 ENST00000435359;ENST00000322335;ENST00000538975 D;D 0.81579 -1.51;-1.51 5.66 5.66 0.87406 . 0.043820 0.85682 D 0.000000 T 0.00012 0.0000 L 0.55834 1.745 0.20489 P 0.999894413 B;B 0.18166 0.016;0.026 B;B 0.13407 0.009;0.009 T 0.02424 -1.1161 9 0.37606 T 0.19 . 15.8799 0.79195 0.0:0.1354:0.8646:0.0 rs11078312;rs58754036;rs11078312 633;633 O75153;C9J6D7 K0664_HUMAN;. V 633 ENSP00000388872:A633V;ENSP00000439628:A633V ENSP00000320468:A633V A - 2 0 KIAA0664 2546936 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 9.455000 0.97625 2.673000 0.90976 0.591000 0.81541 GCC NOVEL CLUH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437807.2 0 6.01658 KEEP 0 0 0 20 680 GG 0.999863 0.999081 0 - 5 60 183 0 0 12.565164 75 60 2833 129 ENST00000570628.2 0.0625 0.999218 RAP1GAP2 23108 __UNKNOWN__ __UNKNOWN__ 17 2894569 2894569 __UNKNOWN__ Intron SNP C C G rs8071529 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:2894569C>G ENST00000254695.8 + 12 903 RAP1GAP2_ENST00000542807.1_Intron|RAP1GAP2_ENST00000366401.4_Intron|RAP1GAP2_ENST00000540393.2_Intron NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 NA NA negative regulation of neuron projection development (GO:0010977) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965) Rap GTPase activator activity (GO:0046582) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 AATTCCTGCCCTTATTCCTGT 0.488 NA C||| 971 0.19389 0.112 0.1974 5008 , , NA 20410 0.2222 NA 0.329 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 C , 561,3191 48,465,1363 43 40 41 , -2.5 0 17 dbSNP_116 41 2569,5651 408,1753,1949 no intron,intron RAP1GAP2 NM_001100398.1,NM_015085.4 , 456,2218,3312 GG,GC,CC 31.253,14.952,26.1443 , , 2894569 3130,8842 1876 4110 5986 SO:0001627 intron_variant AB028962 CCDS45573.1, CCDS45574.1 17p13.3 2009-09-14 2009-09-14 2009-09-14 ENSG00000132359 23108 29176 protein-coding gene gene with protein product GTPase activating RANGAP domain-like 4, GTPase activating Rap/RanGAP domain-like 4 GARNL4 NA 15632203 Standard NM_015085 NA Approved KIAA1039 uc010ckd.3 Q684P5 ENST00000254695.8:c.814-22C>G chr17.hg19:g.2894569C>G NA B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2 hg19 CCDS45573.1 0.02 6.005791 GCCxTTA COVERED NOVEL RAP1GAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438208.2 1 9.029806 KEEP 0 0 0 30 1096 CC 0.999997 0.999997 0 + 8 60 261 0 0 16.251534 147 60 5556 248 ENST00000254695.8 0.051613 1 RAP1GAP2 23108 __UNKNOWN__ __UNKNOWN__ 17 2908816 2908816 __UNKNOWN__ Intron SNP A A G rs2289648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:2908816A>G ENST00000254695.8 + 15 1362 RAP1GAP2_ENST00000542807.1_Intron|RAP1GAP2_ENST00000366401.4_Intron|RAP1GAP2_ENST00000540393.2_Intron NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 NA NA negative regulation of neuron projection development (GO:0010977) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965) Rap GTPase activator activity (GO:0046582) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GGATGGAGCCAAATTCAGGCT 0.557 NA G||| 1534 0.30631 0.3124 0.2983 5008 , , NA 18878 0.3343 NA 0.3668 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB028962 CCDS45573.1, CCDS45574.1 17p13.3 2009-09-14 2009-09-14 2009-09-14 ENSG00000132359 23108 29176 protein-coding gene gene with protein product GTPase activating RANGAP domain-like 4, GTPase activating Rap/RanGAP domain-like 4 GARNL4 NA 15632203 Standard NM_015085 NA Approved KIAA1039 uc010ckd.3 Q684P5 ENST00000254695.8:c.1272+82A>G chr17.hg19:g.2908816A>G NA B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2 hg19 CCDS45573.1 0.02 6.894914 GCCxAAT COVERED NOVEL RAP1GAP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438208.2 0 19.250947 KEEP 0 0 0 64 1923 AA 1 1 0 + 8 60 292 0 0 19.319149 148 60 5337 279 ENST00000254695.8 0.051282 1 OR1A2 26189 __UNKNOWN__ __UNKNOWN__ 17 3100827 3100827 __UNKNOWN__ Silent SNP T T C rs2241093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3100827T>C ENST00000381951.1 + 1 15 c.15T>C c.(13-15)aaT>aaC p.N5N NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 5 NA positive regulation of cytokinesis (GO:0032467) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.N5N(1) breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 AGAAAGAAAATCAATCCTTTA 0.383 NA T||| 1460 0.291534 0.0613 0.2853 5008 , , NA 20876 0.5605 NA 0.3509 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 513,3893 235.8+/-248.2 33,447,1723 89 86 87 15 -6.1 0 17 dbSNP_98 87 3184,5416 483.2+/-371.1 597,1990,1713 no coding-synonymous OR1A2 NM_012352.1 630,2437,3436 CC,CT,TT 37.0233,11.6432,28.4253 5/310 3100827 3697,9309 2203 4300 6503 SO:0001819 synonymous_variant AF155225 CCDS11021.1 17p13.3 2012-08-09 ENSG00000172150 ENSG00000172150 26189 GPCR / Class A : Olfactory receptors 8180 protein-coding gene gene with protein product NA 10673334 Standard NM_012352 NM_012352 NA Approved OR17-6 uc002fvd.1 Q9Y585 OTTHUMG00000090638 ENST00000381951.1:c.15T>C chr17.hg19:g.3100827T>C NA Q3KPH3|Q6IFM0|Q6NTD8|Q96R86 hg19 CCDS11021.1 0.02 16.238684 AAAxCAA COVERED NOVEL OR1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207293.1 3 8.726664 KEEP 0 0 0 29 931 TT 0.999997 0.999997 0 + 21 60 744 0 0 49.628187 341 60 12545 483 ENST00000381951.1 0.058011 1 OR1A2 26189 __UNKNOWN__ __UNKNOWN__ 17 3101691 3101691 __UNKNOWN__ Missense_Mutation SNP G G T rs12150427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3101691G>T ENST00000381951.1 + 1 879 c.879G>T c.(877-879)tgG>tgT p.W293C NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 293 NA W -> C (in dbSNP:rs12150427). {ECO:0000269|PubMed:15489334}. positive regulation of cytokinesis (GO:0032467) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.W293C(1) breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TGAGAAATTGGGATATGAAGG 0.463 NA G||| 1447 0.288938 0.0598 0.2853 5008 , , NA 18238 0.5595 NA 0.3509 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G CYS/TRP 506,3900 232.3+/-245.9 33,440,1730 102 102 102 879 -3 0 17 dbSNP_120 102 3181,5419 476.1+/-369.3 595,1991,1714 yes missense OR1A2 NM_012352.1 215 628,2431,3444 TT,TG,GG 36.9884,11.4843,28.3485 benign 293/310 3101691 3687,9319 2203 4300 6503 SO:0001583 missense AF155225 CCDS11021.1 17p13.3 2012-08-09 ENSG00000172150 ENSG00000172150 26189 GPCR / Class A : Olfactory receptors 8180 protein-coding gene gene with protein product NA 10673334 Standard NM_012352 NM_012352 NA Approved OR17-6 uc002fvd.1 Q9Y585 OTTHUMG00000090638 ENST00000381951.1:c.879G>T chr17.hg19:g.3101691G>T ENSP00000371377:p.Trp293Cys NA Q3KPH3|Q6IFM0|Q6NTD8|Q96R86 hg19 CCDS11021.1 0.02 8.676257 TTGxGAT COVERED 731 0.3347069597069597 35 0.07113821138211382 119 0.3287292817679558 313 0.5472027972027972 264 0.3482849604221636 G 0.906 -0.720596 0.03182 0.114843 0.369884 ENSG00000172150 ENST00000381951 T 0.37058 1.22 4.0 -3.05 0.05396 . 0.337248 0.21566 N 0.072494 T 0.00012 0.0000 N 0.14661 0.345 0.41321 P 0.012827000000000033 B 0.13145 0.007 B 0.06405 0.002 T 0.45775 -0.9238 9 0.87932 D 0 . 5.0262 0.14385 0.5003:0.0:0.3583:0.1413 rs12150427;rs17822470;rs52823271;rs60260068;rs12150427 293 Q9Y585 OR1A2_HUMAN C 293 ENSP00000371377:W293C ENSP00000371377:W293C W + 3 0 OR1A2 3048441 0.000000 0.05858 0.020000 0.16555 0.009000 0.06853 -0.330000 0.07925 -0.665000 0.05317 0.543000 0.68304 TGG NOVEL OR1A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207293.1 2 5.41455 KEEP 0 0 0 18 597 GG 0.999859 0.999859 0 + 10 60 351 0 0 21.71786 238 60 8605 306 ENST00000381951.1 0.040323 1 OR1E1 8387 __UNKNOWN__ __UNKNOWN__ 17 3300934 3300934 __UNKNOWN__ Silent SNP A A T rs769422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3300934A>T ENST00000322608.2 - 1 770 c.771T>A c.(769-771)ggT>ggA p.G257G NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 257 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(2)|lung(5) 10 ATAAGTAGAGACCAATAACGG 0.478 NA A||| 751 0.14996 0.0787 0.0317 5008 , , NA 18851 0.3909 NA 0.0726 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 A 312,4094 170.1+/-200.6 8,296,1899 103 96 98 771 -8.4 0.8 17 dbSNP_86 98 546,8054 151.2+/-206.0 20,506,3774 no coding-synonymous OR1E1 NM_003553.2 28,802,5673 TT,TA,AA 6.3488,7.0813,6.597 257/315 3300934 858,12148 2203 4300 6503 SO:0001819 synonymous_variant U04642 CCDS11024.1 17p13.3 2012-08-09 ENSG00000180016 ENSG00000180016 8387 GPCR / Class A : Olfactory receptors 8189 protein-coding gene gene with protein product OR1E9P, OR1E5, OR1E6 NA 8004088, 1370859 Standard NM_003553 NM_003553 NA Approved OR17-2, HGM071, OR17-32, OR13-66 uc002fvj.1 P30953 OTTHUMG00000090643 ENST00000322608.2:c.771T>A chr17.hg19:g.3300934A>T NA O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60 hg19 CCDS11024.1 0.02 10.787025 GAGxCCA COVERED NOVEL OR1E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207303.1 2 9.325461 KEEP 0 0 0 31 981 AA 0.999997 0.999997 0 - 15 60 531 0 0 34.611921 276 60 9769 382 ENST00000322608.2 0.051546 1 OR1E2 8388 __UNKNOWN__ __UNKNOWN__ 17 3337057 3337057 __UNKNOWN__ Missense_Mutation SNP A A G rs769431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3337057A>G ENST00000248384.1 - 1 78 c.79T>C c.(79-81)Tgc>Cgc p.C27R NM_003554.1 NP_003545.1 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, member 2 27 NA C -> R (in dbSNP:rs769431). {ECO:0000269|PubMed:15489334}. sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872) endometrium(3)|large_intestine(3)|lung(3) 9 AGGGCATAGCACAGGTTTTGC 0.517 NA A||| 3741 0.747005 0.7693 0.83 5008 , , NA 18735 0.7063 NA 0.7525 False NA ,,, NA NA NA 2504 0.6943 NA NA NA NA 0 60 62 61 NA NA 17 NA 3337057 2201 4280 6481 SO:0001583 missense U04686 CCDS11026.1 17p13.3 2012-08-09 ENSG00000127780 ENSG00000127780 8388 GPCR / Class A : Olfactory receptors 8190 protein-coding gene gene with protein product OR1E4 NA 8004088, 9500546 Standard NM_003554 NA Approved OR17-93, OR17-135 uc010vre.2 P47887 OTTHUMG00000090651 ENST00000248384.1:c.79T>C chr17.hg19:g.3337057A>G ENSP00000248384:p.Cys27Arg NA O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13 hg19 CCDS11026.1 0.02 8.734253 AGCxCAG COVERED 1639 0.7504578754578755 371 0.7540650406504065 291 0.8038674033149171 404 0.7062937062937062 573 0.7559366754617414 A 14.02 2.409332 0.42715 . . ENSG00000127780 ENST00000248384;ENST00000454364 T 0.02944 4.1 5.34 4.24 0.50183 . 0.528714 0.18784 N 0.131252 T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 B 0.13594 0.008 B 0.13407 0.009 T 0.27536 -1.0071 9 0.87932 D 0 . 8.6651 0.34116 0.8587:0.0:0.1413:0.0 rs769431;rs3760470;rs58418056;rs769431 27 P47887 OR1E2_HUMAN R 27;26 ENSP00000248384:C27R ENSP00000248384:C27R C - 1 0 OR1E2 3283807 0.278000 0.24230 0.004000 0.12327 0.717000 0.41224 0.725000 0.25970 2.252000 0.74401 0.473000 0.43528 TGC NOVEL OR1E2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207311.1 5 10.830785 KEEP 62 0 0 36 1098 AA 0.999859 0.999859 0 - 10 40 360 0 0 22.917627 220 50 7826 373 ENST00000248384.1 0.043478 1 SPATA22 84690 __UNKNOWN__ __UNKNOWN__ 17 3343519 3343519 __UNKNOWN__ Silent SNP T T C rs17822627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3343519T>C ENST00000573128.1 - 9 1497 c.1014A>G c.(1012-1014)gaA>gaG p.E338E SPATA22_ENST00000541913.1_Silent_p.E322E|SPATA22_ENST00000397168.3_Silent_p.E338E|SPATA22_ENST00000572969.1_Silent_p.E338E|SPATA22_ENST00000575375.1_Silent_p.E338E|SPATA22_ENST00000355380.4_Silent_p.E295E Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 338 NA fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129) chromosome (GO:0005694) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 AAGTTTTTTGTTCAGAAACAG 0.368 NA T||| 1319 0.263379 0.2095 0.3501 5008 , , NA 15510 0.4147 NA 0.1809 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 T ,,,,, 1048,3358 375.9+/-321.8 128,792,1283 66 73 70 1014,885,1014,1014,,1014 3.5 1 17 dbSNP_123 70 1585,7015 294.4+/-301.9 145,1295,2860 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3,coding-synonymous SPATA22 NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4 ,,,,, 273,2087,4143 CC,CT,TT 18.4302,23.7857,20.2445 ,,,,, 338/364,295/321,338/364,338/364,,338/364 3343519 2633,10373 2203 4300 6503 SO:0001819 synonymous_variant AY035868 CCDS11027.1, CCDS54066.1, CCDS54067.1 17p13.3 2005-12-19 84690 30705 protein-coding gene gene with protein product NA 12477932 Standard NM_032598 NM_001170696 NA Approved NYD-SP20 uc002fvn.3 Q8NHS9 ENST00000573128.1:c.1014A>G chr17.hg19:g.3343519T>C NA B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4 hg19 CCDS11027.1 0.02 11.481701 TTGxTCA COVERED NOVEL SPATA22-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438067.2 1 15.346247 KEEP 0 0 0 51 1623 TT 1 1 0 - 21 60 793 0 0 56.93258 259 60 9302 398 ENST00000573128.1 0.075 1 SPATA22 84690 __UNKNOWN__ __UNKNOWN__ 17 3352294 3352294 __UNKNOWN__ Missense_Mutation SNP A A G rs1488689 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3352294A>G ENST00000573128.1 - 6 962 c.479T>C c.(478-480)aTa>aCa p.I160T SPATA22_ENST00000541913.1_Missense_Mutation_p.I144T|SPATA22_ENST00000268981.5_Missense_Mutation_p.I160T|SPATA22_ENST00000397168.3_Missense_Mutation_p.I160T|SPATA22_ENST00000572969.1_Missense_Mutation_p.I160T|SPATA22_ENST00000575375.1_Missense_Mutation_p.I160T|SPATA22_ENST00000355380.4_Missense_Mutation_p.I117T Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 160 NA I -> T (in dbSNP:rs1488689). {ECO:0000269|PubMed:15489334}. fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129) chromosome (GO:0005694) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 AGGTTCAGGTATTCTTAATTG 0.383 NA a||| 1337 0.266973 0.2209 0.3501 5008 , , NA 15352 0.4187 NA 0.1809 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 A THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE 1088,3318 393.5+/-328.9 136,816,1251 268 258 261 479,350,479,479,479,479 2.8 0 17 dbSNP_88 261 1586,7014 296.9+/-303.1 144,1298,2858 yes missense,missense,missense,missense,missense,missense SPATA22 NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4 89,89,89,89,89,89 280,2114,4109 GG,GA,AA 18.4419,24.6936,20.5597 benign,benign,benign,benign,benign,benign 160/364,117/321,160/364,160/364,160/270,160/364 3352294 2674,10332 2203 4300 6503 SO:0001583 missense AY035868 CCDS11027.1, CCDS54066.1, CCDS54067.1 17p13.3 2005-12-19 84690 30705 protein-coding gene gene with protein product NA 12477932 Standard NM_032598 NM_001170696 NA Approved NYD-SP20 uc002fvn.3 Q8NHS9 ENST00000573128.1:c.479T>C chr17.hg19:g.3352294A>G ENSP00000459580:p.Ile160Thr NA B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4 hg19 CCDS11027.1 0.02 26.814335 GGTxTTC COVERED 593 0.2715201465201465 108 0.21951219512195122 127 0.35082872928176795 219 0.38286713286713286 139 0.18337730870712401 a 0.254 -1.004215 0.02112 0.246936 0.184419 ENSG00000141255 ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913 T;T;T;T 0.17370 2.28;2.3;2.31;2.29 3.87 2.79 0.32731 . 1.568880 0.03690 N 0.246975 T 0.00012 0.0000 N 0.12182 0.205 0.80722 P 0.0 B;B;B;B 0.13145 0.001;0.0;0.007;0.001 B;B;B;B 0.08055 0.003;0.002;0.003;0.003 T 0.44651 -0.9314 9 0.19590 T 0.45 -1.2633 6.7352 0.23405 0.8841:0.0:0.1159:0.0 rs1488689;rs17845887;rs17858862;rs61019090;rs1488689 144;160;117;160 F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9 .;.;.;SPT22_HUMAN T 117;160;160;144 ENSP00000347541:I117T;ENSP00000380354:I160T;ENSP00000268981:I160T;ENSP00000441920:I144T ENSP00000268981:I160T I - 2 0 SPATA22 3299044 0.025000 0.19082 0.003000 0.11579 0.010000 0.07245 0.736000 0.26130 0.851000 0.35264 0.454000 0.30748 ATA NOVEL SPATA22-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438067.2 6 21.961316 KEEP 0 0 0 73 2173 AA 1 1 0 - 26 60 967 0 0 61.846856 617 60 21887 856 ENST00000573128.1 0.040435 1 SPATA22 84690 __UNKNOWN__ __UNKNOWN__ 17 3352331 3352331 __UNKNOWN__ Missense_Mutation SNP C C T rs1488690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3352331C>T ENST00000573128.1 - 6 925 c.442G>A c.(442-444)Gtg>Atg p.V148M SPATA22_ENST00000541913.1_Missense_Mutation_p.V132M|SPATA22_ENST00000268981.5_Missense_Mutation_p.V148M|SPATA22_ENST00000397168.3_Missense_Mutation_p.V148M|SPATA22_ENST00000572969.1_Missense_Mutation_p.V148M|SPATA22_ENST00000575375.1_Missense_Mutation_p.V148M|SPATA22_ENST00000355380.4_Missense_Mutation_p.V105M Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 148 NA V -> M (in dbSNP:rs1488690). {ECO:0000269|PubMed:15489334}. fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129) chromosome (GO:0005694) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 CCCGAACTCACTGGACAAGAA 0.353 NA c||| 1337 0.266973 0.2209 0.3501 5008 , , NA 15865 0.4187 NA 0.1809 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL 1087,3319 392.8+/-328.6 136,815,1252 216 208 211 442,313,442,442,442,442 -9.6 0 17 dbSNP_88 211 1585,7015 296.6+/-303.0 144,1297,2859 yes missense,missense,missense,missense,missense,missense SPATA22 NM_001170695.1,NM_001170696.1,NM_001170697.1,NM_001170698.1,NM_001170699.1,NM_032598.4 21,21,21,21,21,21 280,2112,4111 TT,TC,CC 18.4302,24.6709,20.5444 benign,benign,benign,benign,benign,benign 148/364,105/321,148/364,148/364,148/270,148/364 3352331 2672,10334 2203 4300 6503 SO:0001583 missense AY035868 CCDS11027.1, CCDS54066.1, CCDS54067.1 17p13.3 2005-12-19 84690 30705 protein-coding gene gene with protein product NA 12477932 Standard NM_032598 NM_001170696 NA Approved NYD-SP20 uc002fvn.3 Q8NHS9 ENST00000573128.1:c.442G>A chr17.hg19:g.3352331C>T ENSP00000459580:p.Val148Met NA B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4 hg19 CCDS11027.1 0.02 23.168302 TCAxTGG COVERED 593 0.2715201465201465 108 0.21951219512195122 127 0.35082872928176795 219 0.38286713286713286 139 0.18337730870712401 c 4.615 0.114227 0.08831 0.246709 0.184302 ENSG00000141255 ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913 T;T;T;T 0.18960 2.19;2.2;2.18;2.19 5.07 -9.61 0.00550 . 1.064140 0.07349 N 0.882007 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B;B;B;B 0.12013 0.002;0.001;0.005;0.001 B;B;B;B 0.10450 0.005;0.003;0.005;0.002 T 0.36768 -0.9734 9 0.26408 T 0.33 -26.657 15.7227 0.77724 0.0:0.2877:0.0:0.7123 rs1488690;rs17822669;rs17852662;rs52823975;rs57028597;rs1488690 132;148;105;148 F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9 .;.;.;SPT22_HUMAN M 105;148;148;132 ENSP00000347541:V105M;ENSP00000380354:V148M;ENSP00000268981:V148M;ENSP00000441920:V132M ENSP00000268981:V148M V - 1 0 SPATA22 3299081 0.002000 0.14202 0.019000 0.16419 0.059000 0.15707 -1.651000 0.01989 -1.929000 0.01057 -0.417000 0.06048 GTG NOVEL SPATA22-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438067.2 5 22.87507 KEEP 0 0 0 76 2768 CC 1 1 0 - 27 60 1007 0 0 66.866242 521 60 20000 770 ENST00000573128.1 0.04927 1 SHPK 23729 __UNKNOWN__ __UNKNOWN__ 17 3513127 3513127 __UNKNOWN__ 3'UTR SNP G G A rs224495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3513127G>A ENST00000225519.3 - 0 2266 NM_013276.2 NP_037408 Q9UHJ6 SHPK_HUMAN sedoheptulokinase NA NA carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030) cytoplasm (GO:0005737) ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277) breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 COAD - Colon adenocarcinoma(5;0.0828) CATGCCATCCGCCTCTCCTTC 0.607 NA G||| 724 0.144569 0.0159 0.1326 5008 , , NA 19346 0.245 NA 0.1113 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF163573 CCDS11030.1 17p13 2008-02-08 2008-02-08 2008-02-08 ENSG00000197417 ENSG00000197417 23729 2.7.1.14 1492 protein-coding gene gene with protein product 605060 carbohydrate kinase-like CARKL NA 10673275, 18186520 Standard NM_013276 NA Approved SHK uc002fvz.1 Q9UHJ6 OTTHUMG00000090694 ENST00000225519.3:c.*727C>T chr17.hg19:g.3513127G>A NA B2R640|Q8WUH3 hg19 CCDS11030.1 0.02 4.32427 TCCxCCT COVERED NOVEL SHPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207378.2 1 5.416893 KEEP 0 0 0 18 603 GG 0.999859 0.999858 0 - 6 60 213 0 0 13.825749 114 60 3878 154 ENST00000225519.3 0.05 0.999999 CTNS 1497 __UNKNOWN__ __UNKNOWN__ 17 3564378 3564378 __UNKNOWN__ 3'UTR SNP C C T rs1048649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3564378C>T ENST00000381870.3 + 0 2012 CTNS_ENST00000046640.3_3'UTR NM_001031681.2 NP_001026851.2 O60931 CTNS_HUMAN cystinosin, lysosomal cystine transporter NA NA adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886) L-cystine transmembrane transporter activity (GO:0015184) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2) 10 COAD - Colon adenocarcinoma(5;0.0829) L-Cystine(DB00138) TCTGCCCTCTCTCCTACCTCC 0.498 NA C||| 985 0.196685 0.112 0.2205 5008 , , NA 20149 0.2381 NA 0.2306 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ222967 CCDS11031.1, CCDS32530.1 17p13 2011-06-07 2011-06-07 ENSG00000040531 ENSG00000040531 1497 2518 protein-coding gene gene with protein product 606272 cystinosis, nephropathic NA 9537412, 15128704 Standard NM_004937 NM_004937 NA Approved CTNS-LSB, PQLC4 uc002fwa.3 O60931 OTTHUMG00000090693 ENST00000381870.3:c.*350C>T chr17.hg19:g.3564378C>T NA D3DTJ5|Q8IZ01|Q9UNK6 hg19 CCDS32530.1 0.02 3.769015 TCTxTCC COVERED NOVEL CTNS-002 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000207377.1 0 11.133906 KEEP 0 0 0 37 1273 CC 1 1 0 + 6 60 212 0 0 13.182108 141 60 5294 210 ENST00000381870.3 0.040816 1 P2RX5-TAX1BP3 100533970 __UNKNOWN__ __UNKNOWN__ 17 3568682 3568682 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3568682T>C ENST00000550383.1 - 13 4884 TAX1BP3_ENST00000225525.3_Intron P2RX5-TAX1BP3 readthrough (NMD candidate) NA NA NA CCACAAGGGTTACCATGGCAA 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 17p13.2 2013-09-25 ENSG00000257950 ENSG00000257950 100533970 49191 other readthrough NA Standard NR_037928 NA Approved OTTHUMG00000169623 ENST00000550383.1:c.1297-590A>G chr17.hg19:g.3568682T>C NA hg19 0.02 1.909312 GGTxACC COVERED NOVEL P2RX5-TAX1BP3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000405135.1 1 2.292237 KEEP 5 3 104 44 1290 TT 1 0.994422 0 - 5 27 184 0 0 13.097622 61 60 2186 145 ENST00000550383.1 0.075758 0.994422 P2RX5-TAX1BP3 100533970 __UNKNOWN__ __UNKNOWN__ 17 3577146 3577146 __UNKNOWN__ Intron SNP C C T rs1063497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3577146C>T ENST00000550383.1 - 12 1448 P2RX5_ENST00000435558.1_Intron|P2RX5_ENST00000345901.3_3'UTR|P2RX5_ENST00000552050.1_3'UTR|P2RX5_ENST00000547178.1_3'UTR|P2RX5_ENST00000552276.1_Intron|P2RX5_ENST00000225328.5_3'UTR|P2RX5_ENST00000551178.1_3'UTR P2RX5-TAX1BP3 readthrough (NMD candidate) NA NA NA AGGGCCTGAACGTAAGCAGAG 0.542 NA C||| 606 0.121006 0.0068 0.1196 5008 , , NA 19783 0.2222 NA 0.1093 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 C ,,, 118,4288 88.7+/-127.4 1,116,2086 99 71 80 ,,, -4.1 0 17 dbSNP_86 80 891,7709 200.0+/-243.9 49,793,3458 no utr-3,utr-3,utr-3,utr-3 P2RX5 NM_001204519.1,NM_001204520.1,NM_002561.3,NM_175080.2 ,,, 50,909,5544 TT,TC,CC 10.3605,2.6782,7.758 ,,, ,,, 3577146 1009,11997 2203 4300 6503 SO:0001627 intron_variant 17p13.2 2013-09-25 ENSG00000257950 ENSG00000257950 100533970 49191 other readthrough NA Standard NR_037928 NA Approved OTTHUMG00000169623 ENST00000550383.1:c.1260-1359G>A chr17.hg19:g.3577146C>T NA hg19 0.02 11.128726 GAAxGTA COVERED NOVEL P2RX5-TAX1BP3-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000405135.1 2 14.078088 KEEP 0 1 26 56 1908 CC 1 1 0 - 8 60 301 0 0 18.519198 244 60 8548 385 ENST00000550383.1 0.031746 1 ITGAE 3682 __UNKNOWN__ __UNKNOWN__ 17 3660459 3660459 __UNKNOWN__ Intron SNP C C T rs170214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3660459C>T ENST00000263087.4 - 10 1119 NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) NA NA cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229) external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886) metal ion binding (GO:0046872) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGCGAGTCAGCGCTGCgtgga 0.592 NA C||| 19 0.00379393 0.003 0.0014 5008 , , NA 20162 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NSCLC(182;635 2928 8995 38788) NA 0 C 8,4398 14.3+/-33.2 0,8,2195 114 110 111 -5.2 0 17 dbSNP_79 111 0,8600 0,0,4300 no intron ITGAE NM_002208.4 0,8,6495 TT,TC,CC 0.0,0.1816,0.0615 3660459 8,12998 2203 4300 6503 SO:0001627 intron_variant L25851 CCDS32531.1 17p13 2010-03-23 ENSG00000083457 3682 CD molecules, Integrins 6147 protein-coding gene gene with protein product 604682 NA 8119947 Standard NM_002208 NM_002208 NA Approved CD103, HUMINAE uc002fwo.4 P38570 ENST00000263087.4:c.1021-31G>A chr17.hg19:g.3660459C>T NA Q17RS6|Q9NZU9 hg19 CCDS32531.1 0.02 3.869621 CAGxGCT COVERED NOVEL ITGAE-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438169.1 1 6.620912 KEEP 0 0 0 22 752 CC 0.999879 0.999879 0 - 6 60 218 0 0 13.747114 143 60 4753 193 ENST00000263087.4 0.040268 1 P2RX1 5023 __UNKNOWN__ __UNKNOWN__ 17 3806794 3806794 __UNKNOWN__ Intron SNP C C G rs2074990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3806794C>G ENST00000225538.3 - 6 880 NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310) external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) TGAGAGCTGCCGGAGCGGCCC 0.587 NA C||| 1570 0.313498 0.053 0.3703 5008 , , NA 17657 0.499 NA 0.3211 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 C 435,3971 198.1+/-222.0 26,383,1794 31 34 33 -6.8 0 17 dbSNP_96 33 2713,5887 414.3+/-351.4 424,1865,2011 no intron P2RX1 NM_002558.2 450,2248,3805 GG,GC,CC 31.5465,9.8729,24.2042 3806794 3148,9858 2203 4300 6503 SO:0001627 intron_variant X83688 CCDS11040.1 17p13.3 2012-01-17 ENSG00000108405 5023 Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic 8533 protein-coding gene gene with protein product 600845 NA 8834001 Standard NM_002558 NM_002558 NA Approved P2X1 uc002fww.3 P51575 ENST00000225538.3:c.605+50G>C chr17.hg19:g.3806794C>G NA Q9UK84 hg19 CCDS11040.1 0.02 8.752291 TGCxGGA COVERED NOVEL P2RX1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438391.1 5 18.492797 KEEP 0 1 33 73 2521 CC 1 1 0 - 10 60 353 0 0 22.280744 217 60 7658 373 ENST00000225538.3 0.044053 1 P2RX1 5023 __UNKNOWN__ __UNKNOWN__ 17 3819002 3819002 __UNKNOWN__ Intron SNP T T C rs11078475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3819002T>C ENST00000225538.3 - 1 412 NM_002558.2 NP_002549.1 P51575 P2RX1_HUMAN purinergic receptor P2X, ligand-gated ion channel, 1 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310) external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234) ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) GGGTGTGGGGTATGGCCTCTG 0.607 NA T||| 2601 0.519369 0.1142 0.5317 5008 , , NA 18012 0.8165 NA 0.5795 False NA ,,, NA NA NA 2504 0.6902 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X83688 CCDS11040.1 17p13.3 2012-01-17 ENSG00000108405 5023 Purinergic receptors, Ligand-gated ion channels / Purinergic receptors, ionotropic 8533 protein-coding gene gene with protein product 600845 NA 8834001 Standard NM_002558 NM_002558 NA Approved P2X1 uc002fww.3 P51575 ENST00000225538.3:c.137+380A>G chr17.hg19:g.3819002T>C NA Q9UK84 hg19 CCDS11040.1 0.02 11.958954 GGGxATG COVERED NOVEL P2RX1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438391.1 1 27.313973 KEEP 0 0 0 91 2638 TT 1 1 0 - 16 60 573 0 0 38.109624 275 60 9212 472 ENST00000225538.3 0.054983 1 ATP2A3 489 __UNKNOWN__ __UNKNOWN__ 17 3838626 3838626 __UNKNOWN__ Intron SNP T T C rs2074991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:3838626T>C ENST00000397043.3 - 17 2648 ATP2A3_ENST00000397035.3_Intron|ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000352011.3_Intron|ATP2A3_ENST00000309890.7_Intron|ATP2A3_ENST00000397041.3_Intron|ATP2A3_ENST00000359983.3_Intron Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous NA NA blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ttctggcgtctgtttcccctg 0.597 NA T||| 1015 0.202676 0.0484 0.1916 5008 , , NA 16172 0.5089 NA 0.1054 False NA ,,, NA NA NA 2504 0.2035 NA NA NA GBM(32;29 774 15719 37967) NA 0 T ,,,,,, 85,1299 1,83,608 18 21 20 ,,,,,, 0.4 0 17 dbSNP_96 20 342,2840 20,302,1269 no intron,intron,intron,intron,intron,intron,intron ATP2A3 NM_005173.3,NM_174953.2,NM_174954.2,NM_174955.2,NM_174956.2,NM_174957.2,NM_174958.2 ,,,,,, 21,385,1877 CC,CT,TT 10.748,6.1416,9.3517 ,,,,,, ,,,,,, 3838626 427,4139 692 1591 2283 SO:0001627 intron_variant CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1 17p13.3 2012-10-22 ENSG00000074370 ENSG00000074370 489 3.6.3.8 ATPases / P-type 813 protein-coding gene gene with protein product sarcoplasmic/endoplasmic reticulum calcium ATPase 3, calcium pump 3 601929 NA 8809064 Standard NM_174953 NM_005173 NA Approved SERCA3 uc002fwy.2 Q93084 ENST00000397043.3:c.2525-55A>G chr17.hg19:g.3838626T>C NA A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6 hg19 CCDS45580.1 0.02 1.900494 GTCxGTT COVERED NOVEL ATP2A3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438402.1 0 2.708276 KEEP 0 0 0 9 290 TT 0.99254 0.98766 0 - 4 60 138 0 0 9.131211 63 60 2276 87 ENST00000397043.3 0.059701 0.995084 MYBBP1A 10514 __UNKNOWN__ __UNKNOWN__ 17 4444958 4444958 __UNKNOWN__ Intron SNP G G A rs117568324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4444958G>A ENST00000254718.4 - 24 3502 MYBBP1A_ENST00000381556.2_Intron Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a NA NA cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 ACCGTCTCCTGGGACAACCCC 0.587 NA G||| 100 0.0199681 0.0 0.0 5008 , , NA 16808 0.0972 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF147709 CCDS11046.1, CCDS42238.1 17p13.3 2008-07-18 ENSG00000132382 ENSG00000132382 10514 7546 protein-coding gene gene with protein product p53-activated protein-2 604885 NA 10644447 Standard NM_014520 NM_014520 NA Approved P160, PAP2, FLJ37886 uc002fxz.4 Q9BQG0 OTTHUMG00000090747 ENST00000254718.4:c.3196-99C>T chr17.hg19:g.4444958G>A NA Q86VM3|Q9BW49|Q9P0V5|Q9UF99 hg19 CCDS11046.1 0.02 5.988617 CCTxGGA COVERED NOVEL MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000207488.2 0 13.242597 KEEP 0 0 0 44 1522 GG 1 1 0 - 9 60 315 0 0 20.047802 182 60 6737 281 ENST00000254718.4 0.04712 1 MYBBP1A 10514 __UNKNOWN__ __UNKNOWN__ 17 4449228 4449228 __UNKNOWN__ Missense_Mutation SNP C C T rs78265875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4449228C>T ENST00000254718.4 - 14 2140 c.1834G>A c.(1834-1836)Gag>Aag p.E612K MYBBP1A_ENST00000381556.2_Missense_Mutation_p.E612K Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 612 NA cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TCACAGCTCTCTGCAGGGGAC 0.637 NA c||| 71 0.0141773 0.0 0.0 5008 , , NA 16790 0.0685 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C LYS/GLU,LYS/GLU 0,4404 0,0,2202 27 26 27 1834,1834 5.2 1 17 dbSNP_131 27 4,8596 3.0+/-9.4 0,4,4296 yes missense,missense MYBBP1A NM_001105538.1,NM_014520.3 56,56 0,4,6498 TT,TC,CC 0.0465,0.0,0.0308 probably-damaging,probably-damaging 612/1333,612/1329 4449228 4,13000 2202 4300 6502 SO:0001583 missense AF147709 CCDS11046.1, CCDS42238.1 17p13.3 2008-07-18 ENSG00000132382 ENSG00000132382 10514 7546 protein-coding gene gene with protein product p53-activated protein-2 604885 NA 10644447 Standard NM_014520 NM_014520 NA Approved P160, PAP2, FLJ37886 uc002fxz.4 Q9BQG0 OTTHUMG00000090747 ENST00000254718.4:c.1834G>A chr17.hg19:g.4449228C>T ENSP00000254718:p.Glu612Lys NA Q86VM3|Q9BW49|Q9P0V5|Q9UF99 hg19 CCDS11046.1 0.02 11.797217 TCTxTGC COVERED 39 0.017857142857142856 0 0.0 0 0.0 39 0.06818181818181818 0 0.0 c 29.9 5.046576 0.93740 0.0 4.65E-4 ENSG00000132382 ENST00000381556;ENST00000254718 T;T 0.50548 0.74;0.74 5.18 5.18 0.71444 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.13756 0.0333 M 0.66939 2.045 0.46701 D 0.999163 D;D 0.89917 1.0;1.0 D;D 0.83275 0.996;0.994 T 0.33701 -0.9858 10 0.46703 T 0.11 -48.5225 14.9146 0.70785 0.0:1.0:0.0:0.0 . 612;612 Q9BQG0;Q9BQG0-2 MBB1A_HUMAN;. K 612 ENSP00000370968:E612K;ENSP00000254718:E612K ENSP00000254718:E612K E - 1 0 MYBBP1A 4395977 0.987000 0.35691 0.988000 0.46212 0.782000 0.44232 5.056000 0.64287 2.802000 0.96397 0.542000 0.68232 GAG NOVEL MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000207488.2 1 20.166196 KEEP 0 0 0 67 2426 CC 1 1 0 - 11 60 379 0 0 22.326171 312 60 11995 476 ENST00000254718.4 0.034056 1 MYBBP1A 10514 __UNKNOWN__ __UNKNOWN__ 17 4451453 4451453 __UNKNOWN__ Missense_Mutation SNP C C T rs56716962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4451453C>T ENST00000254718.4 - 12 2015 c.1709G>A c.(1708-1710)cGc>cAc p.R570H MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R570H Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 570 Interaction with MYB. {ECO:0000250}. NA R -> H (in Ref. 1; AAF33021). {ECO:0000305}. cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 CCAGGCCTGGCGCTGCTGCGC 0.657 NA C||| 444 0.0886581 0.0015 0.0677 5008 , , NA 18377 0.3433 NA 0.008 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 C HIS/ARG,HIS/ARG 18,4388 23.3+/-48.9 0,18,2185 57 51 53 1709,1709 0.9 1 17 dbSNP_129 53 71,8529 42.6+/-100.3 0,71,4229 yes missense,missense MYBBP1A NM_001105538.1,NM_014520.3 29,29 0,89,6414 TT,TC,CC 0.8256,0.4085,0.6843 probably-damaging,probably-damaging 570/1333,570/1329 4451453 89,12917 2203 4300 6503 SO:0001583 missense AF147709 CCDS11046.1, CCDS42238.1 17p13.3 2008-07-18 ENSG00000132382 ENSG00000132382 10514 7546 protein-coding gene gene with protein product p53-activated protein-2 604885 NA 10644447 Standard NM_014520 NM_014520 NA Approved P160, PAP2, FLJ37886 uc002fxz.4 Q9BQG0 OTTHUMG00000090747 ENST00000254718.4:c.1709G>A chr17.hg19:g.4451453C>T ENSP00000254718:p.Arg570His NA Q86VM3|Q9BW49|Q9P0V5|Q9UF99 hg19 CCDS11046.1 0.02 8.504711 TGGxGCT COVERED 209 0.09569597069597069 2 0.0040650406504065045 12 0.03314917127071823 188 0.32867132867132864 7 0.009234828496042216 C 15.55 2.865501 0.51588 0.004085 0.008256 ENSG00000132382 ENST00000381556;ENST00000254718 T;T 0.48522 0.81;0.81 5.57 0.857 0.19025 Armadillo-type fold (1); 0.214766 0.45361 N 0.000367 T 0.00012 0.0000 M 0.62723 1.935 0.28802 P 0.898691 D;D 0.89917 1.0;1.0 D;D 0.76071 0.987;0.978 T 0.11665 -1.0578 9 0.46703 T 0.11 -17.2116 6.4776 0.22045 0.0:0.5641:0.0:0.4359 rs56716962 570;570 Q9BQG0;Q9BQG0-2 MBB1A_HUMAN;. H 570 ENSP00000370968:R570H;ENSP00000254718:R570H ENSP00000254718:R570H R - 2 0 MYBBP1A 4398202 0.996000 0.38824 1.000000 0.80357 0.635000 0.38103 0.897000 0.28390 0.412000 0.25729 -0.157000 0.13467 CGC NOVEL MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000207488.2 0 21.050878 KEEP 0 0 0 70 2392 CC 1 1 0 - 8 60 289 0 0 17.425189 237 60 8581 371 ENST00000254718.4 0.032653 1 MYBBP1A 10514 __UNKNOWN__ __UNKNOWN__ 17 4457580 4457580 __UNKNOWN__ Intron SNP G G A rs2306270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4457580G>A ENST00000254718.4 - 3 601 MYBBP1A_ENST00000381556.2_Intron Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a NA NA cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134) p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 ACAGCTGCCAGGAGTTGTGTG 0.512 NA G||| 1003 0.20028 0.1165 0.1484 5008 , , NA 18529 0.4246 NA 0.0795 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 1 Unknown(1) stomach(1) G , 479,3927 225.6+/-241.4 31,417,1755 65 69 67 , 1.6 0.1 17 dbSNP_100 67 793,7807 184.7+/-232.6 34,725,3541 no intron,intron MYBBP1A NM_001105538.1,NM_014520.3 , 65,1142,5296 AA,AG,GG 9.2209,10.8715,9.7801 , , 4457580 1272,11734 2203 4300 6503 SO:0001627 intron_variant AF147709 CCDS11046.1, CCDS42238.1 17p13.3 2008-07-18 ENSG00000132382 ENSG00000132382 10514 7546 protein-coding gene gene with protein product p53-activated protein-2 604885 NA 10644447 Standard NM_014520 NM_014520 NA Approved P160, PAP2, FLJ37886 uc002fxz.4 Q9BQG0 OTTHUMG00000090747 ENST00000254718.4:c.295-7C>T chr17.hg19:g.4457580G>A NA Q86VM3|Q9BW49|Q9P0V5|Q9UF99 hg19 CCDS11046.1 0.02 4.252616 CCAxGAG COVERED NOVEL MYBBP1A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000207488.2 1 13.844705 KEEP 0 0 0 46 1608 GG 1 1 0 - 12 60 448 0 0 33.232605 116 60 4258 201 ENST00000254718.4 0.09375 1 SMTNL2 342527 __UNKNOWN__ __UNKNOWN__ 17 4495740 4495740 __UNKNOWN__ Missense_Mutation SNP G G A rs12449695 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4495740G>A ENST00000389313.4 + 2 551 c.484G>A c.(484-486)Gca>Aca p.A162T SMTNL2_ENST00000338859.4_Missense_Mutation_p.A18T NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 162 NA A -> T (in dbSNP:rs12449695). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) CCAGCCGGGGGCAGGTAGGGC 0.567 NA G||| 1662 0.331869 0.1067 0.4467 5008 , , NA 14261 0.5813 NA 0.3131 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 G THR/ALA,THR/ALA 580,3826 258.3+/-262.4 29,522,1652 55 57 57 484,52 -1.4 0.1 17 dbSNP_120 57 2623,5977 422.8+/-354.1 402,1819,2079 yes missense,missense SMTNL2 NM_001114974.1,NM_198501.2 58,58 431,2341,3731 AA,AG,GG 30.5,13.1639,24.6271 benign,benign 162/462,18/318 4495740 3203,9803 2203 4300 6503 SO:0001583 missense AK124452 CCDS11048.1, CCDS45583.1 17p13.2 2006-04-26 ENSG00000188176 ENSG00000188176 342527 24764 protein-coding gene gene with protein product NA Standard NM_198501 NM_001114974 NA Approved FLJ42461 uc002fyf.1 Q2TAL5 OTTHUMG00000132938 ENST00000389313.4:c.484G>A chr17.hg19:g.4495740G>A ENSP00000373964:p.Ala162Thr NA Q6ZVK6 hg19 CCDS45583.1 0.02 9.837621 GGGxCAG COVERED 776 0.3553113553113553 49 0.09959349593495935 149 0.4116022099447514 340 0.5944055944055944 238 0.31398416886543534 G 11.19 1.566285 0.27915 0.131639 0.305 ENSG00000188176 ENST00000338859;ENST00000389313 D;T 0.81579 -1.51;-1.41 4.85 -1.36 0.09085 . . . . . T 0.00012 0.0000 L 0.38175 1.15 0.53005 P 3.2999999999949736E-5 B 0.19706 0.038 B 0.11329 0.006 T 0.44251 -0.9340 8 0.27785 T 0.31 -0.0062 1.0384 0.01553 0.3536:0.1476:0.3476:0.1511 rs12449695;rs59472147;rs12449695 162 Q2TAL5 SMTL2_HUMAN T 18;162 ENSP00000345143:A18T;ENSP00000373964:A162T ENSP00000345143:A18T A + 1 0 SMTNL2 4442489 0.175000 0.23083 0.112000 0.21494 0.603000 0.37013 0.375000 0.20518 -0.051000 0.13334 0.655000 0.94253 GCA NOVEL SMTNL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439129.1 1 25.2187 KEEP 0 1 35 96 3467 GG 1 1 0 + 11 60 390 0 0 23.831514 286 60 10801 486 ENST00000389313.4 0.037037 1 SMTNL2 342527 __UNKNOWN__ __UNKNOWN__ 17 4500304 4500304 __UNKNOWN__ Intron SNP C C T rs72634012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4500304C>T ENST00000389313.4 + 6 1174 SMTNL2_ENST00000338859.4_Intron NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 NA NA breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) GCTGCTGGGACGCCCCAGCTA 0.662 NA C||| 1428 0.285144 0.0696 0.3242 5008 , , NA 16977 0.5813 NA 0.2276 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 C , 392,3898 26,340,1779 10 10 10 , 1.2 0 17 dbSNP_130 10 1684,6730 155,1374,2678 no intron,intron SMTNL2 NM_001114974.1,NM_198501.2 , 181,1714,4457 TT,TC,CC 20.0143,9.1375,16.3413 , , 4500304 2076,10628 2145 4207 6352 SO:0001627 intron_variant AK124452 CCDS11048.1, CCDS45583.1 17p13.2 2006-04-26 ENSG00000188176 ENSG00000188176 342527 24764 protein-coding gene gene with protein product NA Standard NM_198501 NM_001114974 NA Approved FLJ42461 uc002fyf.1 Q2TAL5 OTTHUMG00000132938 ENST00000389313.4:c.1107+32C>T chr17.hg19:g.4500304C>T NA Q6ZVK6 hg19 CCDS45583.1 0.02 2.051394 GGAxGCC COVERED NOVEL SMTNL2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439129.1 1 15.649006 KEEP 0 0 0 52 1796 CC 1 0.999559 0 + 5 60 186 0 0 12.758002 79 60 2758 186 ENST00000389313.4 0.059524 0.999559 ALOX15 246 __UNKNOWN__ __UNKNOWN__ 17 4535385 4535385 __UNKNOWN__ Intron SNP A A G rs2619112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4535385A>G ENST00000570836.1 - 14 1738 ALOX15_ENST00000545513.1_Intron|ALOX15_ENST00000293761.3_Intron|ALOX15_ENST00000574640.1_Intron P16050 LOX15_HUMAN arachidonate 15-lipoxygenase NA NA apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060) cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886) arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) GTCAGTGCCTACCAAGCACGC 0.632 NA G||| 2766 0.552316 0.5651 0.5346 5008 , , NA 18981 0.5625 NA 0.5557 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 G 2492,1914 546.0+/-376.9 675,1142,386 57 51 53 1.8 0 17 dbSNP_100 53 4486,4114 562.7+/-388.0 1152,2182,966 no intron ALOX15 NM_001140.3 1827,3324,1352 GG,GA,AA 47.8372,43.4408,46.3478 4535385 6978,6028 2203 4300 6503 SO:0001627 intron_variant M23892 CCDS11049.1 17p13.3 2010-09-24 ENSG00000161905 ENSG00000161905 246 1.13.11.33 Arachidonate lipoxygenases 433 protein-coding gene gene with protein product 152392 NA 1570320 Standard NM_001140 NA Approved 15-LOX-1 uc002fyh.3 P16050 OTTHUMG00000090746 ENST00000570836.1:c.1642-34T>C chr17.hg19:g.4535385A>G NA A8K2P4|B7ZA11|Q8N6R7|Q99657 hg19 CCDS11049.1 0.02 15.732333 CCTxCCA COVERED NOVEL ALOX15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207487.2 2 13.752136 KEEP 0 1 38 59 1719 AA 1 1 0 - 10 60 384 0 0 22.906476 387 60 13267 564 ENST00000570836.1 0.025189 1 PLD2 5338 __UNKNOWN__ __UNKNOWN__ 17 4718027 4718027 __UNKNOWN__ Intron SNP G G T rs2286670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4718027G>T ENST00000263088.6 + 12 1304 PLD2_ENST00000572940.1_Intron NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 NA NA cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886) N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630) autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) TGGTCAGGCCGCAGGGGGAGG 0.577 NA G||| 357 0.0712859 0.0174 0.0836 5008 , , NA 19140 0.0575 NA 0.16 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 G 136,4270 95.7+/-134.4 1,134,2068 33 29 30 -6.3 0 17 dbSNP_100 30 1238,7362 242.4+/-272.4 103,1032,3165 no intron PLD2 NM_002663.4 104,1166,5233 TT,TG,GG 14.3953,3.0867,10.5644 4718027 1374,11632 2203 4300 6503 SO:0001627 intron_variant AF035483 CCDS11057.1, CCDS58507.1 17p13.3 2008-04-14 ENSG00000129219 ENSG00000129219 5338 3.1.4.4 9068 protein-coding gene gene with protein product choline phosphatase 2 602384 NA 9858823, 9582313 Standard NM_002663 NM_002663 NA Approved uc002fzc.3 O14939 OTTHUMG00000090779 ENST00000263088.6:c.1173+21G>T chr17.hg19:g.4718027G>T NA I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3 hg19 CCDS11057.1 0.02 4.031704 GCCxCAG COVERED NOVEL PLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207561.3 2 15.650002 KEEP 0 0 0 52 1832 GG 1 1 0 + 5 60 183 0 0 11.294218 137 60 5035 239 ENST00000263088.6 0.035211 1 PLD2 5338 __UNKNOWN__ __UNKNOWN__ 17 4721376 4721376 __UNKNOWN__ Missense_Mutation SNP A A G rs17854914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4721376A>G ENST00000263088.6 + 18 2026 c.1895A>G c.(1894-1896)gAg>gGg p.E632G PLD2_ENST00000572940.1_Missense_Mutation_p.E632G NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 632 Catalytic. NA E -> G (in dbSNP:rs17854914). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886) N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630) p.E632G(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) ACCATCAGGGAGAGCCAGCAC 0.572 NA A||| 380 0.0758786 0.0234 0.0836 5008 , , NA 19234 0.0675 NA 0.163 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A GLY/GLU 162,4244 105.6+/-144.1 2,158,2043 84 65 72 1895 4.8 1 17 dbSNP_123 72 1242,7358 243.9+/-273.3 106,1030,3164 yes missense PLD2 NM_002663.4 98 108,1188,5207 GG,GA,AA 14.4419,3.6768,10.795 possibly-damaging 632/934 4721376 1404,11602 2203 4300 6503 SO:0001583 missense AF035483 CCDS11057.1, CCDS58507.1 17p13.3 2008-04-14 ENSG00000129219 ENSG00000129219 5338 3.1.4.4 9068 protein-coding gene gene with protein product choline phosphatase 2 602384 NA 9858823, 9582313 Standard NM_002663 NM_002663 NA Approved uc002fzc.3 O14939 OTTHUMG00000090779 ENST00000263088.6:c.1895A>G chr17.hg19:g.4721376A>G ENSP00000263088:p.Glu632Gly NA I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3 hg19 CCDS11057.1 0.02 16.621534 GGGxGAG COVERED 200 0.09157509157509157 8 0.016260162601626018 36 0.09944751381215469 41 0.07167832167832168 115 0.1517150395778364 A 14.76 2.631171 0.46944 0.036768 0.144419 ENSG00000129219 ENST00000263088 T 0.30182 1.54 4.77 4.77 0.60923 . 0.170853 0.51477 D 0.000095 T 0.00144 0.0004 N 0.26042 0.785 0.27570 P 0.9499091 B;B;P 0.35139 0.033;0.057;0.486 B;B;B 0.40329 0.022;0.064;0.326 T 0.21484 -1.0244 9 0.31617 T 0.26 -15.9283 12.2194 0.54425 1.0:0.0:0.0:0.0 rs17854914 489;632;632 B7Z905;O14939-2;O14939 .;.;PLD2_HUMAN G 632 ENSP00000263088:E632G ENSP00000263088:E632G E + 2 0 PLD2 4668342 1.000000 0.71417 1.000000 0.80357 0.703000 0.40648 3.862000 0.56009 1.787000 0.52448 0.454000 0.30748 GAG NOVEL PLD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207561.3 4 24.975173 KEEP 0 0 0 83 2628 AA 1 1 0 + 15 60 558 0 0 35.818473 349 60 12860 583 ENST00000263088.6 0.041209 1 SPAG7 9552 __UNKNOWN__ __UNKNOWN__ 17 4863310 4863310 __UNKNOWN__ Intron SNP A A T rs75170185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4863310A>T ENST00000573366.1 - 5 1123 SPAG7_ENST00000206020.3_Intron|SPAG7_ENST00000575142.1_Intron O75391 SPAG7_HUMAN sperm associated antigen 7 NA NA nucleus (GO:0005634) nucleic acid binding (GO:0003676) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TGCAAAGCATAGCTCACCTTC 0.607 NA A||| 284 0.0567093 0.1271 0.0072 5008 , , NA 17746 0.1081 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A 427,3407 21,385,1511 90 87 88 3.8 0.1 17 dbSNP_132 88 22,8262 0,22,4120 no intron SPAG7 NM_004890.2 21,407,5631 TT,TA,AA 0.2656,11.1372,3.7052 4863310 449,11669 1917 4142 6059 SO:0001627 intron_variant AF047437 CCDS42240.1 17p13.2 2008-07-18 ENSG00000091640 9552 11216 protein-coding gene gene with protein product 610056 NA 9653160 Standard NM_004890 NM_004890 NA Approved FSA-1, ACRP, MGC20134 uc002gae.3 O75391 ENST00000573366.1:c.264+6T>A chr17.hg19:g.4863310A>T NA Q96EU5 hg19 0.02 9.038787 CATxGCT COVERED NOVEL SPAG7-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000438748.1 0 20.447559 KEEP 0 0 0 68 2036 AA 1 1 0 - 7 60 264 0 0 16.316357 210 60 7504 349 ENST00000573366.1 0.032258 1 INCA1 388324 __UNKNOWN__ __UNKNOWN__ 17 4893461 4893461 __UNKNOWN__ Silent SNP A A G rs79831737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4893461A>G ENST00000574617.1 - 4 499 c.144T>C c.(142-144)ctT>ctC p.L48L INCA1_ENST00000355025.3_Silent_p.L48L|INCA1_ENST00000575780.1_Silent_p.L48L|INCA1_ENST00000576820.1_Silent_p.L48L|INCA1_ENST00000396829.2_Silent_p.L48L Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 1 48 NA negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235) cytoplasm (GO:0005737)|nucleus (GO:0005634) cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861) upper_aerodigestive_tract(1) 1 GCCTTTGATTAAGGTTCTTCC 0.498 NA a||| 134 0.0267572 0.0605 0.0029 5008 , , NA 20617 0.0506 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A ,,, 211,4195 129.0+/-165.8 4,203,1996 100 82 88 144,144,144,144 -0.4 0.9 17 dbSNP_132 88 4,8596 3.7+/-12.6 0,4,4296 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous INCA1 NM_001167985.1,NM_001167986.1,NM_001167987.1,NM_213726.2 ,,, 4,207,6292 GG,GA,AA 0.0465,4.7889,1.6531 ,,, 48/222,48/237,48/237,48/222 4893461 215,12791 2203 4300 6503 SO:0001819 synonymous_variant AY601906, AAT09152 CCDS11064.1, CCDS54074.1 17p13.2 2010-03-19 2009-04-20 ENSG00000196388 ENSG00000196388 388324 32224 protein-coding gene gene with protein product NA 15159402, 18756329 Standard NM_213726 NM_213726 NA Approved uc002gak.3 Q0VD86 ENST00000574617.1:c.144T>C chr17.hg19:g.4893461A>G NA Q6J273|Q6PKN9 hg19 CCDS54074.1 0.02 10.342585 ATTxAGG COVERED NOVEL INCA1-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000438886.1 1 28.581562 KEEP 0 0 0 95 2923 AA 1 1 0 - 8 60 333 0 0 22.445441 197 60 7113 387 ENST00000574617.1 0.039024 1 SLC52A1 55065 __UNKNOWN__ __UNKNOWN__ 17 4941375 4941375 __UNKNOWN__ Intron SNP G G A rs4790729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:4941375G>A ENST00000512825.2 - 2 1305 Q9NWF4 S52A1_HUMAN solute carrier family 52 (riboflavin transporter), member 1 NA NA riboflavin transport (GO:0032218) integral component of plasma membrane (GO:0005887) riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618) NA caccacgcccggctaattttt 0.577 NA G||| 2702 0.539537 0.7791 0.6311 5008 , , NA 16437 0.2391 NA 0.6322 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY070775 CCDS11066.1 17p13.3 2013-07-17 2013-07-17 2012-02-29 ENSG00000132517 ENSG00000132517 55065 Solute carriers 30225 protein-coding gene gene with protein product riboflavin transporter 1 607883 G protein-coupled receptor 172B GPR172B NA 12740431, 18632736 Standard NM_017986 NM_001104577 NA Approved FLJ10060, GPCR42, PAR2, hRFT1, RFVT1 uc002gao.4 Q9NWF4 OTTHUMG00000099448 ENST00000512825.2:c.107-3367C>T chr17.hg19:g.4941375G>A NA B5MEV1|B5MEV2|Q6P9E0|Q86UT0 hg19 0.02 -0.017542 CCCxGCT UNCOVERED NOVEL SLC52A1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000438891.1 7 3.610937 KEEP 4 0 0 12 382 GG 0.99257 0 0 - 2 40 62 0 0 7.153381 0 0 0 18 ENST00000512825.2 1 0 ZNF232 7775 __UNKNOWN__ __UNKNOWN__ 17 5015151 5015151 __UNKNOWN__ 5'UTR SNP C C A rs77618631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:5015151C>A ENST00000250076.3 - 0 621 AC012146.7_ENST00000571138.1_RNA|ZNF232_ENST00000416429.2_5'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 CACTTACAGCCCTCACCCCAG 0.692 NA C||| 103 0.0205671 0.0325 0.0014 5008 , , NA 14315 0.0565 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 141,4263 94.4+/-133.1 5,131,2066 43 43 43 -0.4 0 17 dbSNP_132 43 1,8597 0,1,4298 no utr-5 ZNF232 NM_014519.2 5,132,6364 AA,AC,CC 0.0116,3.2016,1.0921 5015151 142,12860 2202 4299 6501 SO:0001623 5_prime_UTR_variant AF080169 CCDS11068.1 17p13.2 2013-01-09 ENSG00000167840 ENSG00000167840 7775 -, Zinc fingers, C2H2-type 13026 protein-coding gene gene with protein product NA 11311944 Standard NM_014519 NM_014519 NA Approved ZSCAN11 uc002gat.3 Q9UNY5 OTTHUMG00000099450 ENST00000250076.3:c.-34G>T chr17.hg19:g.5015151C>A NA hg19 CCDS11068.1 0.02 15.587659 AGCxCTC COVERED NOVEL ZNF232-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000216915.1 3 59.894197 KEEP 0 0 0 199 7083 CC 1 1 0 - 15 60 516 0 0 31.600223 353 60 13242 772 ENST00000250076.3 0.040761 1 USP6 9098 __UNKNOWN__ __UNKNOWN__ 17 5037195 5037195 __UNKNOWN__ Missense_Mutation SNP G G A rs74900103 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:5037195G>A ENST00000574788.1 + 15 2628 c.398G>A c.(397-399)aGg>aAg p.R133K USP6_ENST00000332776.4_Missense_Mutation_p.R133K|USP6_ENST00000250066.6_Missense_Mutation_p.R133K|USP6_ENST00000304328.5_5'UTR P35125 UBP6_HUMAN ubiquitin specific peptidase 6 133 Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}. NA cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ATGAAGGAGAGGGGCAAGAGG 0.547 NA T COL1A1, CDH11, ZNF9, OMD aneurysmal bone cysts NA NA NA NA NA NA NA NA NA Dom yes 17 17p13 9098 ubiquitin specific peptidase 6 (Tre-2 oncogene) M 0 185 166 173 NA NA 17 NA 5037195 2203 4300 6503 SO:0001583 missense X63547 CCDS11069.2 17p13 2014-06-12 2014-06-12 ENSG00000129204 ENSG00000129204 9098 3.4.19.12 Ubiquitin-specific peptidases 12629 protein-coding gene gene with protein product ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, Tre-2 oncogene 604334 ubiquitin specific protease 6 (Tre-2 oncogene), TRE oncogene, Smith Magenis syndrome chromosome region, ubiquitin specific peptidase 6 (Tre-2 oncogene) HRP1, TRESMCR NA 12838346, 1349106 Standard NM_004505 NM_004505 NA Approved Tre-2, TRE17, Tre2 uc002gav.1 P35125 OTTHUMG00000099449 ENST00000574788.1:c.398G>A chr17.hg19:g.5037195G>A ENSP00000460380:p.Arg133Lys NA Q15634|Q86WP6|Q8IWT4 hg19 CCDS11069.2 0.02 6.002931 AGAxGGG COVERED . . . . . . . . . . G 0.090 -1.168985 0.01660 . . ENSG00000129204 ENST00000332776;ENST00000250066 T;T 0.26373 1.74;1.74 0.862 -1.72 0.08107 Rab-GAP/TBC domain (4); 0.104487 0.64402 N 0.000003 T 0.05135 0.0137 N 0.01576 -0.805 0.34807 D 0.737346 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.40459 -0.9562 10 0.05351 T 0.99 . 2.1908 0.03898 0.3285:0.3345:0.337:0.0 . 133;133 B9A6N0;P35125 .;UBP6_HUMAN K 133 ENSP00000328010:R133K;ENSP00000250066:R133K ENSP00000250066:R133K R + 2 0 USP6 4977919 0.068000 0.21057 0.092000 0.20876 0.093000 0.18481 0.731000 0.26058 -1.381000 0.02112 -1.368000 0.01194 AGG NOVEL USP6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438990.1 3 6.622006 KEEP 0 0 0 22 820 GG 0.999879 0.999879 0 + 8 60 281 0 0 17.778063 169 60 6384 239 ENST00000574788.1 0.045198 1 USP6 9098 __UNKNOWN__ __UNKNOWN__ 17 5074890 5074890 __UNKNOWN__ Silent SNP A A G rs144325342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:5074890A>G ENST00000574788.1 + 37 6193 c.3963A>G c.(3961-3963)tcA>tcG p.S1321S USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Silent_p.S1321S|USP6_ENST00000304328.5_Silent_p.S1004S P35125 UBP6_HUMAN ubiquitin specific peptidase 6 1321 USP. NA cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511) cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGTGCCATTCAGGAATTCTGA 0.428 NA T COL1A1, CDH11, ZNF9, OMD aneurysmal bone cysts A||| 53 0.0105831 0.0 0.0 5008 , , NA 15125 0.0506 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA Dom yes 17 17p13 9098 ubiquitin specific peptidase 6 (Tre-2 oncogene) M 0 A 2,4404 4.2+/-10.8 0,2,2201 93 80 85 3963 2.3 1 17 dbSNP_134 85 0,8600 0,0,4300 no coding-synonymous USP6 NM_004505.2 0,2,6501 GG,GA,AA 0.0,0.0454,0.0154 1321/1407 5074890 2,13004 2203 4300 6503 SO:0001819 synonymous_variant X63547 CCDS11069.2 17p13 2014-06-12 2014-06-12 ENSG00000129204 ENSG00000129204 9098 3.4.19.12 Ubiquitin-specific peptidases 12629 protein-coding gene gene with protein product ubiquitin carboxyl-terminal hydrolase 6, TBC1D3 and USP32 fusion, Tre-2 oncogene 604334 ubiquitin specific protease 6 (Tre-2 oncogene), TRE oncogene, Smith Magenis syndrome chromosome region, ubiquitin specific peptidase 6 (Tre-2 oncogene) HRP1, TRESMCR NA 12838346, 1349106 Standard NM_004505 NM_004505 NA Approved Tre-2, TRE17, Tre2 uc002gav.1 P35125 OTTHUMG00000099449 ENST00000574788.1:c.3963A>G chr17.hg19:g.5074890A>G NA Q15634|Q86WP6|Q8IWT4 hg19 CCDS11069.2 0.02 3.543034 TTCxGGA COVERED NOVEL USP6-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438990.1 1 5.717402 KEEP 0 0 0 19 601 AA 0.99986 0.999858 0 + 9 60 295 0 0 19.987111 109 60 3975 151 ENST00000574788.1 0.076271 0.999998 AIPL1 23746 __UNKNOWN__ __UNKNOWN__ 17 6330109 6330109 __UNKNOWN__ Intron SNP G G A rs2292545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6330109G>A ENST00000381129.3 - 5 723 AIPL1_ENST00000570466.1_Intron|AIPL1_ENST00000575265.1_Intron|AIPL1_ENST00000576776.1_Intron|AIPL1_ENST00000574506.1_Intron|AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000250087.5_Intron NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 NA NA negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601) cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917) farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082) NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) ATGACCTCAGGCAGCTGCCCA 0.642 NA G||| 1026 0.204872 0.0696 0.245 5008 , , NA 14344 0.3363 NA 0.3091 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G ,, 439,3967 210.8+/-231.2 27,385,1791 62 49 54 ,, 3.9 0 17 dbSNP_100 54 2386,6214 396.4+/-345.4 341,1704,2255 no intron,intron,intron AIPL1 NM_001033054.1,NM_001033055.1,NM_014336.3 ,, 368,2089,4046 AA,AG,GG 27.7442,9.9637,21.7207 ,, ,, 6330109 2825,10181 2203 4300 6503 SO:0001627 intron_variant AF148864 CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1 17p13.1 2013-01-08 2001-11-29 ENSG00000129221 ENSG00000129221 23746 359 protein-coding gene gene with protein product 604392 aryl hydrocarbon receptor-interacting protein-like 1 LCA4 NA 10615133, 14555765, 15365173 Standard NM_014336 NM_001285402 NA Approved uc002gcp.3 Q9NZN9 OTTHUMG00000102043 ENST00000381129.3:c.643-33C>T chr17.hg19:g.6330109G>A NA D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10 hg19 CCDS11075.1 0.02 10.923372 CAGxCAG COVERED NOVEL AIPL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219828.3 0 15.049214 KEEP 0 0 0 50 1781 GG 1 1 0 - 9 60 331 0 0 20.545933 243 60 8852 380 ENST00000381129.3 0.035714 1 AIPL1 23746 __UNKNOWN__ __UNKNOWN__ 17 6330153 6330153 __UNKNOWN__ Intron SNP C C T rs925616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6330153C>T ENST00000381129.3 - 4 723 AIPL1_ENST00000570466.1_Intron|AIPL1_ENST00000575265.1_Intron|AIPL1_ENST00000576776.1_Intron|AIPL1_ENST00000574506.1_Intron|AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000250087.5_Intron NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 NA NA negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601) cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917) farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082) NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) ACTGGGCAGGCCCCCCAGAGT 0.667 NA T||| 1786 0.356629 0.3109 0.2954 5008 , , NA 13936 0.4812 NA 0.3936 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 T ,, 1551,2855 663.2+/-401.2 289,973,941 43 43 43 ,, -1.2 0 17 dbSNP_86 43 3175,5425 647.0+/-400.3 580,2015,1705 no intron,intron,intron AIPL1 NM_001033054.1,NM_001033055.1,NM_014336.3 ,, 869,2988,2646 TT,TC,CC 36.9186,35.202,36.3371 ,, ,, 6330153 4726,8280 2203 4300 6503 SO:0001627 intron_variant AF148864 CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1 17p13.1 2013-01-08 2001-11-29 ENSG00000129221 ENSG00000129221 23746 359 protein-coding gene gene with protein product 604392 aryl hydrocarbon receptor-interacting protein-like 1 LCA4 NA 10615133, 14555765, 15365173 Standard NM_014336 NM_001285402 NA Approved uc002gcp.3 Q9NZN9 OTTHUMG00000102043 ENST00000381129.3:c.642+47G>A chr17.hg19:g.6330153C>T NA D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10 hg19 CCDS11075.1 0.02 8.084714 AGGxCCC COVERED NOVEL AIPL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219828.3 0 14.440151 KEEP 0 0 0 48 1659 CC 1 1 0 - 13 60 418 0 0 26.51096 211 60 7192 309 ENST00000381129.3 0.058036 1 AIPL1 23746 __UNKNOWN__ __UNKNOWN__ 17 6331836 6331836 __UNKNOWN__ Intron SNP T T G rs12453262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6331836T>G ENST00000381129.3 - 3 357 AIPL1_ENST00000570466.1_Intron|AIPL1_ENST00000575265.1_Intron|AIPL1_ENST00000576776.1_Intron|AIPL1_ENST00000574506.1_Intron|AIPL1_ENST00000571740.1_Intron|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000250087.5_Intron NM_001033055.1|NM_014336.3 NP_001028227.1|NP_055151.3 Q9NZN9 AIPL1_HUMAN aryl hydrocarbon receptor interacting protein-like 1 NA NA negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601) cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917) farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082) NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1) 12 COAD - Colon adenocarcinoma(228;0.141) GCTGTGGGGATAAACGGATGG 0.632 NA G||| 2459 0.491014 0.3253 0.6153 5008 , , NA 18878 0.499 NA 0.6044 False NA ,,, NA NA NA 2504 0.502 NA NA NA NA 0 G ,, 1700,2706 648.1+/-398.7 330,1040,833 60 49 53 ,, 0.8 0 17 dbSNP_120 53 4978,3622 517.7+/-379.1 1437,2104,759 no intron,intron,intron AIPL1 NM_001033054.1,NM_001033055.1,NM_014336.3 ,, 1767,3144,1592 GG,GT,TT 42.1163,38.5837,48.6545 ,, ,, 6331836 6678,6328 2203 4300 6503 SO:0001627 intron_variant AF148864 CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1 17p13.1 2013-01-08 2001-11-29 ENSG00000129221 ENSG00000129221 23746 359 protein-coding gene gene with protein product 604392 aryl hydrocarbon receptor-interacting protein-like 1 LCA4 NA 10615133, 14555765, 15365173 Standard NM_014336 NM_001285402 NA Approved uc002gcp.3 Q9NZN9 OTTHUMG00000102043 ENST00000381129.3:c.277-10A>C chr17.hg19:g.6331836T>G NA D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10 hg19 CCDS11075.1 0.02 9.501544 GGAxAAA COVERED NOVEL AIPL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219828.3 0 10.866414 KEEP 0 1 37 49 1478 TT 1 1 0 - 7 60 272 0 0 17.204644 204 60 7067 304 ENST00000381129.3 0.033175 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 6338530 6338530 __UNKNOWN__ IGR SNP G G T rs7211442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6338530G>T NA NA AIPL1 (11 upstream) : FAM64A (9204 downstream) NA NA NA CAGGAGGAGTGGGGGGAAGGG 0.652 NA G||| 674 0.134585 0.0484 0.1383 5008 , , NA 14187 0.3105 NA 0.1243 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.6338530G>T NA hg19 0.02 6.543569 AGTxGGG COVERED NOVEL 0 0 4.814821 KEEP 0 0 0 16 531 GG 0.997832 0.997832 0 9 60 333 0 0 21.74184 187 60 6755 241 0.045918 1 PITPNM3 83394 __UNKNOWN__ __UNKNOWN__ 17 6356818 6356818 __UNKNOWN__ 3'UTR SNP G G A rs4796330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6356818G>A ENST00000262483.8 - 0 4852 PITPNM3_ENST00000421306.3_3'UTR NM_031220.3 NP_112497.2 Q9BZ71 PITM3_HUMAN PITPNM family member 3 NA NA phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914) integral component of membrane (GO:0016021)|intracellular (GO:0005622) calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) agcctgaTCCGCACTCCTCCC 0.567 NA G||| 1734 0.346246 0.2489 0.4611 5008 , , NA 17788 0.2173 NA 0.5089 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF334586 CCDS11076.1, CCDS54080.1 17p13 2013-07-18 2013-07-18 2013-07-18 ENSG00000091622 ENSG00000091622 83394 GPCR / Class A : Chemokine receptors : Atypical 21043 protein-coding gene gene with protein product atypical chemokine receptor 6 608921 cone rod dystrophy 5 CORD5 NA 10022914 Standard NM_031220 NM_031220 NA Approved NIR1, RDGBA3, ACKR6 uc002gdd.4 Q9BZ71 OTTHUMG00000102039 ENST00000262483.8:c.*1840C>T chr17.hg19:g.6356818G>A NA A1A5D0|F8WEW5|Q59GH9|Q9NPQ4 hg19 CCDS11076.1 0.02 3.724386 TCCxCAC COVERED NOVEL PITPNM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219824.2 2 8.42458 KEEP 0 0 0 28 915 GG 0.999997 0.999997 0 - 7 60 255 0 0 16.714039 136 60 4462 199 ENST00000262483.8 0.048951 1 FBXO39 162517 __UNKNOWN__ __UNKNOWN__ 17 6690161 6690161 __UNKNOWN__ Silent SNP C C T rs17853331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6690161C>T ENST00000321535.4 + 3 1216 c.1086C>T c.(1084-1086)atC>atT p.I362I NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 362 NA NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 ACCTCCTCATCATATCCTGCA 0.463 NA C||| 1544 0.308307 0.1944 0.3026 5008 , , NA 18317 0.5823 NA 0.2038 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 C 844,3562 333.1+/-302.8 95,654,1454 110 97 102 1086 3.5 1 17 dbSNP_123 102 1817,6783 326.6+/-317.4 195,1427,2678 no coding-synonymous FBXO39 NM_153230.2 290,2081,4132 TT,TC,CC 21.1279,19.1557,20.4598 362/443 6690161 2661,10345 2203 4300 6503 SO:0001819 synonymous_variant BC034782 CCDS11082.1 17p13.2 2014-01-21 ENSG00000177294 ENSG00000177294 162517 F-boxes / other 28565 protein-coding gene gene with protein product 609106 NA 12477932 Standard NM_153230 NM_153230 NA Approved MGC35179, Fbx39, CT144 uc010vtg.2 Q8N4B4 OTTHUMG00000102062 ENST00000321535.4:c.1086C>T chr17.hg19:g.6690161C>T NA hg19 CCDS11082.1 0.02 6.729904 CATxATA COVERED NOVEL FBXO39-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219866.2 1 10.534187 KEEP 0 0 0 35 1232 CC 0.999999 0.999999 0 + 7 60 261 0 0 17.117514 145 60 5618 239 ENST00000321535.4 0.046053 1 AC027763.2 0 __UNKNOWN__ __UNKNOWN__ 17 6900076 6900076 __UNKNOWN__ Intron SNP G G A rs2073438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6900076G>A ENST00000399541.2 - 3 233 ALOX12_ENST00000251535.6_Intron|RP11-589P10.7_ENST00000572547.1_RNA NA NA NA ACAGGAGCGCGGCTCTGTCCT 0.617 NA G||| 885 0.176717 0.0182 0.1455 5008 , , NA 16241 0.3492 NA 0.2714 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000399541.2:c.98-11217C>T chr17.hg19:g.6900076G>A NA hg19 0.02 6.29682 CGCxGCT COVERED NOVEL AC027763.2-001 PUTATIVE basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000256409.3 0 4.214301 KEEP 0 1 34 26 860 GG 0.999988 0.999988 0 - 6 60 217 0 0 13.525798 150 60 4857 212 ENST00000399541.2 0.038462 1 C17orf49 124944 __UNKNOWN__ __UNKNOWN__ 17 6919232 6919232 __UNKNOWN__ Intron SNP A A C rs1530377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6919232A>C ENST00000439424.2 + 3 294 MIR497HG_ENST00000572453.1_RNA|RP11-589P10.7_ENST00000572547.1_RNA|C17orf49_ENST00000546495.1_Intron|MIR497HG_ENST00000443997.1_RNA|C17orf49_ENST00000552775.1_Intron|RNASEK-C17orf49_ENST00000547302.2_Intron|C17orf49_ENST00000546760.1_Intron|C17orf49_ENST00000552402.1_Intron NM_001142798.2|NM_174893.3 NP_001136270.1|NP_777553.1 Q8IXM2 BAP18_HUMAN chromosome 17 open reading frame 49 NA NA chromatin modification (GO:0016568) MLL1 complex (GO:0071339)|NURF complex (GO:0016589) chromatin binding (GO:0003682)|DNA binding (GO:0003677) kidney(1)|large_intestine(2)|ovary(1) 4 GCGGGTGGGCAGCCTTCTTCC 0.522 NA A||| 97 0.019369 0.0 0.0014 5008 , , NA 18140 0.0952 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A ,, 4,4402 8.1+/-20.4 0,4,2199 60 49 53 ,, 0.5 0.9 17 dbSNP_88 53 0,8600 0,0,4300 no intron,intron,intron C17orf49 NM_001142798.2,NM_001142799.2,NM_174893.3 ,, 0,4,6499 CC,CA,AA 0.0,0.0908,0.0308 ,, ,, 6919232 4,13002 2203 4300 6503 SO:0001627 intron_variant AK055800 CCDS32542.1, CCDS45595.1, CCDS45596.1 17p13.1 2013-02-11 ENSG00000258315 ENSG00000258315 124944 28737 protein-coding gene gene with protein product BPTF associated protein of 18 kDa, human embryo lung cellular protein interacting with SARS-CoV nsp-10 NA Standard NM_174893 NM_174893 NA Approved MGC49942, BAP18, HEPIS Q8IXM2 OTTHUMG00000170147 ENST00000439424.2:c.218+38A>C chr17.hg19:g.6919232A>C NA B4DIV3|C9J4G0|E9PB29 hg19 CCDS32542.1 0.02 6.506303 GGCxGCC COVERED NOVEL C17orf49-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000407666.1 0 36.396225 KEEP 0 0 0 121 3628 AA 1 1 0 + 11 60 371 0 0 24.140349 178 60 6489 377 ENST00000439424.2 0.058201 1 SLC16A13 201232 __UNKNOWN__ __UNKNOWN__ 17 6940065 6940065 __UNKNOWN__ Silent SNP G G A rs3744396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:6940065G>A ENST00000308027.6 + 2 527 c.219G>A c.(217-219)ctG>ctA p.L73L NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 73 NA Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) symporter activity (GO:0015293) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GCAGTGCCCTGAGCACGAAGT 0.642 NA G||| 110 0.0219649 0.0 0.0014 5008 , , NA 16892 0.1062 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G 4,4402 8.1+/-20.4 0,4,2199 97 97 97 219 3.6 1 17 dbSNP_107 97 0,8600 0,0,4300 no coding-synonymous SLC16A13 NM_201566.2 0,4,6499 AA,AG,GG 0.0,0.0908,0.0308 73/427 6940065 4,13002 2203 4300 6503 SO:0001819 synonymous_variant BN000145 CCDS11085.1 17p13.1 2013-07-18 2013-07-18 ENSG00000174327 ENSG00000174327 201232 Solute carriers 31037 protein-coding gene gene with protein product monocarboxylic acid transporter 13 solute carrier family 16 (monocarboxylic acid transporters), member 13 NA Standard NM_201566 NA Approved MCT13 uc002geh.3 Q7RTY0 OTTHUMG00000102089 ENST00000308027.6:c.219G>A chr17.hg19:g.6940065G>A NA A3KMG3|A5PKU5|Q2VP92 hg19 CCDS11085.1 0.02 5.651164 CCTxAGC COVERED NOVEL SLC16A13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000219923.2 0 13.844688 KEEP 0 0 0 46 1609 GG 1 1 0 + 7 60 242 0 0 14.629614 177 60 6714 251 ENST00000308027.6 0.038043 1 DLG4 1742 __UNKNOWN__ __UNKNOWN__ 17 7121785 7121785 __UNKNOWN__ Intron SNP T T C rs2521985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7121785T>C ENST00000399510.2 - 2 971 ACADVL_ENST00000543245.2_Intron NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) NA NA alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021) acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 Guanidine(DB00536) aaatgatctctgggctcccaa 0.592 NA C||| 3437 0.686302 0.8245 0.5994 5008 , , NA 17027 0.6389 NA 0.6362 False NA ,,, NA NA NA 2504 0.6616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U83192 CCDS45599.1, CCDS45600.1 17p13.1 2008-12-15 2001-12-04 ENSG00000132535 ENSG00000132535 1742 2903 protein-coding gene gene with protein product 602887 NA 9286702 Standard NM_001365 NM_001128827 NA Approved PSD-95, PSD95, SAP90, SAP-90 uc010cly.3 P78352 OTTHUMG00000134327 ENST00000399510.2:c.118+74A>G chr17.hg19:g.7121785T>C NA B7Z1S1|G5E939|Q92941|Q9UKK8 hg19 CCDS45599.1 0.02 1.76572 CTCxGGG COVERED NOVEL DLG4-001 KNOWN non_canonical_TEC|basic|CCDS protein_coding NA protein_coding OTTHUMT00000259418.2 3 4.170832 KEEP 0 2 63 36 1100 TT 1 0.997163 0 - 5 60 162 0 0 10.740698 66 60 2414 118 ENST00000399510.2 0.070423 0.997163 DLG4 1742 __UNKNOWN__ __UNKNOWN__ 17 7122624 7122624 __UNKNOWN__ 5'UTR SNP G G A rs2017365 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7122624G>A ENST00000399510.2 - 0 397 ACADVL_ENST00000543245.2_Intron NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) NA NA alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021) acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 Guanidine(DB00536) CTGGGCACATGGTCTCTGGAA 0.552 NA G||| 2499 0.499002 0.3374 0.4942 5008 , , NA 18240 0.4722 NA 0.6213 False NA ,,, NA NA NA 2504 0.6227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U83192 CCDS45599.1, CCDS45600.1 17p13.1 2008-12-15 2001-12-04 ENSG00000132535 ENSG00000132535 1742 2903 protein-coding gene gene with protein product 602887 NA 9286702 Standard NM_001365 NM_001128827 NA Approved PSD-95, PSD95, SAP90, SAP-90 uc010cly.3 P78352 OTTHUMG00000134327 ENST00000399510.2:c.-456C>T chr17.hg19:g.7122624G>A NA B7Z1S1|G5E939|Q92941|Q9UKK8 hg19 CCDS45599.1 0.02 10.118641 CATxGTC COVERED NOVEL DLG4-001 KNOWN non_canonical_TEC|basic|CCDS protein_coding NA protein_coding OTTHUMT00000259418.2 0 50.733777 KEEP 0 2 64 191 6714 GG 1 1 0 - 9 60 322 0 0 18.980157 289 60 10878 626 ENST00000399510.2 0.030201 1 DVL2 1856 __UNKNOWN__ __UNKNOWN__ 17 7129840 7129840 __UNKNOWN__ Silent SNP T T C rs35594616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7129840T>C ENST00000005340.5 - 14 1944 c.1662A>G c.(1660-1662)caA>caG p.Q554Q DVL2_ENST00000575458.1_Silent_p.Q548Q NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 554 NA canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) frizzled binding (GO:0005109)|identical protein binding (GO:0042802) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 GGGCAGGGTATTGGTAGGAGA 0.617 NA T||| 2602 0.519569 0.416 0.4957 5008 , , NA 15735 0.4732 NA 0.6233 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 T 1944,2462 545.8+/-376.9 413,1118,672 51 55 54 1662 -2.7 0.9 17 dbSNP_126 54 5380,3220 646.5+/-400.3 1695,1990,615 no coding-synonymous DVL2 NM_004422.2 2108,3108,1287 CC,CT,TT 37.4419,44.1217,43.6875 554/737 7129840 7324,5682 2203 4300 6503 SO:0001819 synonymous_variant BC014844 CCDS11091.1 17p13.1 2013-05-22 2013-05-22 ENSG00000004975 ENSG00000004975 1856 Dishevelled homologs 3086 protein-coding gene gene with protein product 602151 dishevelled 2 (homologous to Drosophila dsh), dishevelled, dsh homolog 2 (Drosophila) NA 8662242 Standard NM_004422 NM_004422 NA Approved uc002gez.1 O14641 OTTHUMG00000102155 ENST00000005340.5:c.1662A>G chr17.hg19:g.7129840T>C NA D3DTN3|Q53XM0 hg19 CCDS11091.1 0.02 5.004348 GTAxTGG COVERED NOVEL DVL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219999.2 2 11.269242 KEEP 0 1 36 50 1580 TT 1 0.999999 0 - 6 60 235 0 0 15.975275 116 60 4042 201 ENST00000005340.5 0.04918 0.999999 DVL2 1856 __UNKNOWN__ __UNKNOWN__ 17 7132556 7132556 __UNKNOWN__ Silent SNP C C T rs222837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7132556C>T ENST00000005340.5 - 8 1137 c.855G>A c.(853-855)caG>caA p.Q285Q DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.Q279Q NM_004422.2 NP_004413.1 O14641 DVL2_HUMAN dishevelled segment polarity protein 2 285 PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}. NA canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) frizzled binding (GO:0005109)|identical protein binding (GO:0042802) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1) 25 GCTCATTGCTCTGGCCAACAA 0.592 NA T||| 3281 0.655152 0.8487 0.5591 5008 , , NA 17964 0.6359 NA 0.5229 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 T 3543,863 337.8+/-305.0 1427,689,87 82 84 84 855 -2.1 1 17 dbSNP_79 84 4379,4221 570.8+/-389.4 1131,2117,1052 no coding-synonymous DVL2 NM_004422.2 2558,2806,1139 TT,TC,CC 49.0814,19.5869,39.0897 285/737 7132556 7922,5084 2203 4300 6503 SO:0001819 synonymous_variant BC014844 CCDS11091.1 17p13.1 2013-05-22 2013-05-22 ENSG00000004975 ENSG00000004975 1856 Dishevelled homologs 3086 protein-coding gene gene with protein product 602151 dishevelled 2 (homologous to Drosophila dsh), dishevelled, dsh homolog 2 (Drosophila) NA 8662242 Standard NM_004422 NM_004422 NA Approved uc002gez.1 O14641 OTTHUMG00000102155 ENST00000005340.5:c.855G>A chr17.hg19:g.7132556C>T NA D3DTN3|Q53XM0 hg19 CCDS11091.1 0.02 8.279043 GCTxTGG COVERED NOVEL DVL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000219999.2 4 28.928667 KEEP 0 1 34 108 3812 CC 1 1 0 - 8 60 291 0 0 17.920476 217 60 8157 402 ENST00000005340.5 0.035556 1 RP1-4G17.5 0 __UNKNOWN__ __UNKNOWN__ 17 7156186 7156186 __UNKNOWN__ Intron SNP A A G rs2074218 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7156186A>G ENST00000577138.1 - 2 269 ELP5_ENST00000574255.1_Intron|ELP5_ENST00000354429.2_Intron|ELP5_ENST00000396627.2_Intron|ELP5_ENST00000356683.2_Intron|ELP5_ENST00000574993.1_Intron|ELP5_ENST00000396628.2_Intron|ELP5_ENST00000573657.1_Intron NA NA NA CCTACCCTGGATAGGGCACCT 0.557 NA A||| 2421 0.483427 0.3684 0.4784 5008 , , NA 18441 0.3889 NA 0.6203 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 A ,,, 1780,2626 526.2+/-371.8 351,1078,774 96 92 93 ,,, 0.3 0 17 dbSNP_96 93 5247,3353 643.2+/-399.9 1595,2057,648 no intron,intron,intron,intron C17orf81 NM_015362.3,NM_203413.1,NM_203414.1,NM_203415.1 ,,, 1946,3135,1422 GG,GA,AA 38.9884,40.3995,45.9711 ,,, ,,, 7156186 7027,5979 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000577138.1:c.224-5524T>C chr17.hg19:g.7156186A>G NA hg19 0.02 20.822364 TGGxTAG COVERED NOVEL RP1-4G17.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000440209.1 3 63.445075 KEEP 0 2 69 235 7484 AA 1 1 0 - 16 60 563 1 0 32.950614 504 60 18151 954 ENST00000577138.1 0.030769 1 RP1-4G17.5 0 __UNKNOWN__ __UNKNOWN__ 17 7158203 7158203 __UNKNOWN__ Intron SNP T T G rs402514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7158203T>G ENST00000577138.1 - 1 269 ELP5_ENST00000574255.1_Nonstop_Mutation_p.*180E|ELP5_ENST00000354429.2_Intron|ELP5_ENST00000396627.2_Intron|ELP5_ENST00000356683.2_Intron|ELP5_ENST00000574993.1_Intron|ELP5_ENST00000396628.2_Intron|ELP5_ENST00000573657.1_Nonstop_Mutation_p.*180E NA NA NA TACCCTAGAATAAACATCTGG 0.413 NA G||| 3519 0.702676 0.8964 0.5937 5008 , , NA 17334 0.6498 NA 0.6352 False NA ,,, NA NA NA 2504 0.6421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000577138.1:c.223+6936A>C chr17.hg19:g.7158203T>G NA hg19 0.02 18.912486 GAAxAAA COVERED NOVEL RP1-4G17.5-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000440209.1 7 41.882339 KEEP 0 2 74 165 5041 TT 1 1 0 - 15 60 515 0 0 29.605072 485 60 16714 860 ENST00000577138.1 0.03 1 CLDN7 1366 __UNKNOWN__ __UNKNOWN__ 17 7163739 7163739 __UNKNOWN__ Missense_Mutation SNP A A G rs4562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7163739A>G ENST00000360325.7 - 4 1024 c.590T>C c.(589-591)gTa>gCa p.V197A RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000538261.3_3'UTR|CLDN7_ENST00000397317.4_Missense_Mutation_p.V197A NM_001307.5 NP_001298.3 O95471 CLD7_HUMAN claudin 7 197 NA V -> A (in dbSNP:rs4562). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.3, ECO:0000269|Ref.7}. calcium-independent cell-cell adhesion (GO:0016338) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 6 AGAGCGGGGTACACGGTACCC 0.567 NA G||| 3524 0.703674 0.8956 0.5937 5008 , , NA 17005 0.6488 NA 0.6412 False NA ,,, NA NA NA 2504 0.6431 NA NA NA NA 0 G ALA/VAL,,ALA/VAL 3710,696 291.0+/-281.2 1570,570,63 91 74 80 590,,590 4.9 0.2 17 dbSNP_52 80 5352,3248 487.5+/-372.1 1668,2016,616 yes missense,utr-3,missense CLDN7 NM_001185022.1,NM_001185023.1,NM_001307.5 64,,64 3238,2586,679 GG,GA,AA 37.7674,15.7966,30.3245 benign,,benign 197/212,,197/212 7163739 9062,3944 2203 4300 6503 SO:0001583 missense AJ011497 CCDS11096.1, CCDS54081.1 17p13.1 2013-09-20 ENSG00000181885 ENSG00000181885 1366 Claudins 2049 protein-coding gene gene with protein product 609131 CEPTRL2, CPETRL2 NA 9892664 Standard NM_001307 NM_001307 NA Approved Hs.84359 uc002gfm.4 O95471 OTTHUMG00000178005 ENST00000360325.7:c.590T>C chr17.hg19:g.7163739A>G ENSP00000353475:p.Val197Ala NA B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0 hg19 CCDS11096.1 0.02 8.666141 GGTxCAC COVERED 1495 0.6845238095238095 429 0.8719512195121951 220 0.6077348066298343 378 0.6608391608391608 468 0.6174142480211082 G 0.012 -1.674509 0.00758 0.842034 0.622326 ENSG00000181885 ENST00000360325;ENST00000397317 D;D 0.83673 -1.75;-1.75 4.92 4.92 0.64577 . 0.763485 0.12037 N 0.505365 T 0.00012 0.0000 N 0.01250 -0.93 0.52099 P 5.900000000003125E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.41215 -0.9521 9 0.14252 T 0.57 . 6.6125 0.22759 0.0904:0.0:0.7334:0.1762 rs4562;rs222858;rs3180649;rs3744401;rs17856030;rs60901387;rs4562 197 O95471 CLD7_HUMAN A 197 ENSP00000353475:V197A;ENSP00000396638:V197A ENSP00000353475:V197A V - 2 0 CLDN7 7104463 0.012000 0.17670 0.192000 0.23308 0.192000 0.23643 1.686000 0.37669 1.455000 0.47813 -0.320000 0.08662 GTA NOVEL CLDN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440204.2 2 11.899524 KEEP 0 2 76 66 1910 AA 1 1 0 - 9 60 302 0 0 18.328332 206 60 6685 359 ENST00000360325.7 0.04186 1 SLC2A4 6517 __UNKNOWN__ __UNKNOWN__ 17 7187123 7187123 __UNKNOWN__ Silent SNP T T C rs5435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7187123T>C ENST00000317370.8 + 4 658 c.390T>C c.(388-390)aaT>aaC p.N130N SLC2A4_ENST00000571308.1_Silent_p.N130N|SLC2A4_ENST00000424875.2_Silent_p.N120N|RP1-4G17.2_ENST00000576271.1_RNA NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 130 NA amylopectin biosynthetic process (GO:0010021)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|cellular response to osmotic stress (GO:0071470)|glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|membrane organization (GO:0061024)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|endomembrane system (GO:0012505)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|trans-Golgi network transport vesicle (GO:0030140)|vesicle membrane (GO:0012506) D-glucose transmembrane transporter activity (GO:0055056)|glucose transmembrane transporter activity (GO:0005355) breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 GCCTGGCCAATGCTGCTGCCT 0.602 NA C||| 3493 0.697484 0.913 0.6081 5008 , , NA 19792 0.625 NA 0.6064 False NA ,,, NA NA NA 2504 0.638 NA NA NA NA 0 C 3716,690 288.1+/-279.7 1576,564,63 68 61 63 390 -11.5 0 17 dbSNP_52 63 5363,3237 487.6+/-372.2 1696,1971,633 no coding-synonymous SLC2A4 NM_001042.2 3272,2535,696 CC,CT,TT 37.6395,15.6605,30.1938 130/510 7187123 9079,3927 2203 4300 6503 SO:0001819 synonymous_variant M20747 CCDS11097.1 17p13 2013-05-22 ENSG00000181856 ENSG00000181856 6517 Solute carriers 11009 protein-coding gene gene with protein product 138190 GLUT4 NA Standard NM_001042 NA Approved uc002gfp.3 P14672 OTTHUMG00000102181 ENST00000317370.8:c.390T>C chr17.hg19:g.7187123T>C NA Q05BQ3|Q14CX2 hg19 CCDS11097.1 0.02 8.971776 CAAxGCT COVERED NOVEL SLC2A4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220031.3 3 15.212184 KEEP 0 2 61 72 2225 TT 1 1 0 + 7 60 264 0 0 16.044933 230 60 8293 381 ENST00000317370.8 0.029536 1 YBX2 51087 __UNKNOWN__ __UNKNOWN__ 17 7192091 7192091 __UNKNOWN__ 3'UTR SNP C C T rs222842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7192091C>T ENST00000007699.5 - 0 1174 NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 NA NA mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386) cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 TGGGTGTCCTCTGAGTTGAGT 0.572 NA T||| 2371 0.473442 0.3041 0.5331 5008 , , NA 18179 0.3571 NA 0.7068 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 - 1631,2775 658.0+/-400.3 300,1031,872 119 98 105 NA 1 17 dbSNP_79 105 6230,2370 386.1+/-341.7 2275,1680,345 no utr-3 YBX2 NM_015982.3 2575,2711,1217 TT,TC,CC 27.5581,37.0177,39.5587 7192091 7861,5145 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF096834 CCDS11098.1 17p13.1 2013-12-20 ENSG00000006047 ENSG00000006047 51087 17948 protein-coding gene gene with protein product 611447 NA 10100484, 9780336 Standard NM_015982 NM_015982 NA Approved MSY2, CSDA3 uc002gfq.2 Q9Y2T7 OTTHUMG00000177992 ENST00000007699.5:c.*16G>A chr17.hg19:g.7192091C>T NA D3DTP1|Q8N4P0 hg19 CCDS11098.1 0.02 4.094804 CCTxTGA COVERED NOVEL YBX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440172.2 3 16.252748 KEEP 0 0 0 54 1913 CC 1 1 0 - 5 60 188 0 0 11.728679 141 60 5405 259 ENST00000007699.5 0.034247 1 NEURL4 84461 __UNKNOWN__ __UNKNOWN__ 17 7229545 7229545 __UNKNOWN__ Intron SNP C C T rs59200234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7229545C>T ENST00000399464.2 - 6 1309 NEURL4_ENST00000315614.7_Intron|NEURL4_ENST00000570460.1_Intron NM_032442.2 NP_115818.2 Q96JN8 NEUL4_HUMAN neuralized E3 ubiquitin protein ligase 4 NA NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTGCTGAAAGCGGCCCAGGGA 0.587 NA T||| 595 0.11881 0.1626 0.1311 5008 , , NA 18529 0.1845 NA 0.0577 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 T , 467,3457 31,405,1526 38 40 39 , -6.3 0 17 dbSNP_129 39 371,7901 11,349,3776 no intron,intron NEURL4 NM_001005408.1,NM_032442.2 , 42,754,5302 TT,TC,CC 4.485,11.9011,6.8711 , , 7229545 838,11358 1962 4136 6098 SO:0001627 intron_variant CCDS42251.1, CCDS42252.1 17p13 2013-10-24 2013-10-24 ENSG00000215041 ENSG00000215041 84461 34410 protein-coding gene gene with protein product 615865 neuralized homolog 4 (Drosophila) NA 22261722, 22441691 Standard NM_032442 NM_001005408 NA Approved KIAA1787 uc002gga.1 Q96JN8 OTTHUMG00000132319 ENST00000399464.2:c.1293+28G>A chr17.hg19:g.7229545C>T NA Q6GPI8|Q96IU9|Q9H0B0 hg19 CCDS42251.1 0.02 4.061772 AAGxGGC COVERED NOVEL NEURL4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255434.2 1 11.434084 KEEP 0 0 0 38 1257 CC 1 0.999998 0 - 7 60 250 0 0 16.871927 109 60 3754 176 ENST00000399464.2 0.060345 0.999998 ACAP1 9744 __UNKNOWN__ __UNKNOWN__ 17 7239911 7239911 __UNKNOWN__ 5'UTR SNP A A G rs3809827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7239911A>G ENST00000158762.3 + 0 64 NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 NA NA protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312) endosome (GO:0005768)|membrane (GO:0016020) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TTGGGGAAAGAATTGTGCCCC 0.677 NA A||| 2028 0.404952 0.7163 0.2767 5008 , , NA 15203 0.3065 NA 0.2435 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant D30758 CCDS11101.1 17p13.1 2013-01-11 2008-09-22 2008-09-22 ENSG00000072818 ENSG00000072818 9744 ADP-ribosylation factor GTPase activating proteins, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing 16467 protein-coding gene gene with protein product 607763 centaurin, beta 1 CENTB1 NA 11050434, 11062263 Standard NM_014716 NM_014716 NA Approved KIAA0050 uc002ggd.2 Q15027 OTTHUMG00000102199 ENST00000158762.3:c.-143A>G chr17.hg19:g.7239911A>G NA Q53XN9 hg19 CCDS11101.1 0.02 7.994768 AAGxATT COVERED NOVEL ACAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000220049.4 1 25.273019 KEEP 0 0 0 84 2626 AA 1 1 0 + 7 60 249 0 0 14.434334 239 60 8461 417 ENST00000158762.3 0.028455 1 POLR2A 5430 __UNKNOWN__ __UNKNOWN__ 17 7413048 7413048 __UNKNOWN__ Intron SNP G G A rs56197937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7413048G>A ENST00000322644.6 + 22 4212 NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa NA NA 7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032) DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ATTGAGGGGCggccaggcgcg 0.537 NA g||| 38 0.00758786 0.0008 0.0 5008 , , NA 17076 0.0367 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 17p13.1 2013-01-21 2002-08-29 ENSG00000181222 ENSG00000181222 5430 2.7.7.6 RNA polymerase subunits 9187 protein-coding gene gene with protein product DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit, RNA polymerase II subunit B1 180660 polymerase (RNA) II (DNA directed) polypeptide A (220kD) POLR2 NA Standard NM_000937 NM_000937 NA Approved POLRA, RPB1 uc002ghf.4 P24928 OTTHUMG00000177594 ENST00000322644.6:c.3813+97G>A chr17.hg19:g.7413048G>A NA A6NN93|B9EH88|Q6NX41 hg19 CCDS32548.1 0.02 1.998064 GGCxGCC COVERED NOVEL POLR2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437967.1 2 6.62104 KEEP 1 0 0 22 747 GG 0.999869 0.999704 0 + 7 60 260 0 0 18.659562 83 60 3045 121 ENST00000322644.6 0.077778 0.999835 DNAH2 146754 __UNKNOWN__ __UNKNOWN__ 17 7721231 7721231 __UNKNOWN__ Intron SNP T T C rs9916791 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7721231T>C ENST00000572933.1 + 68 11696 DNAH2_ENST00000389173.2_Intron Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCTCTCCCGTAGTGTTCCTT 0.577 NA C||| 1782 0.355831 0.23 0.268 5008 , , NA 18992 0.5843 NA 0.2724 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 C 1049,3357 724.0+/-409.5 127,795,1281 76 73 74 2 0 17 dbSNP_119 74 2353,6247 700.2+/-405.1 317,1719,2264 no intron DNAH2 NM_020877.2 444,2514,3545 CC,CT,TT 27.3605,23.8084,26.1572 7721231 3402,9604 2203 4300 6503 SO:0001627 intron_variant U83570, AK128517 CCDS32551.1 17p13.1 2007-10-05 2006-09-04 ENSG00000183914 146754 Axonemal dyneins 2948 protein-coding gene gene with protein product 603333 dynein, axonemal, heavy polypeptide 2, dynein heavy chain domain 3 DNHD3 NA 9256245 Standard NM_020877 XM_005256470 NA Approved KIAA1503, FLJ46675 uc002giu.1 Q9P225 ENST00000572933.1:c.10237-33T>C chr17.hg19:g.7721231T>C NA A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42 hg19 CCDS32551.1 0.02 17.046073 CCGxAGT COVERED NOVEL DNAH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440241.1 0 15.941341 KEEP 0 0 0 53 1531 TT 1 1 0 + 16 60 614 0 0 40.599852 345 60 11585 518 ENST00000572933.1 0.044321 1 ALOX15B 247 __UNKNOWN__ __UNKNOWN__ 17 7942901 7942901 __UNKNOWN__ Silent SNP C C G rs76589243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:7942901C>G ENST00000572022.1 + 2 467 c.345C>G c.(343-345)acC>acG p.T115T ALOX15B_ENST00000380183.4_Silent_p.T115T|ALOX15B_ENST00000380173.2_Silent_p.T115T|ALOX15B_ENST00000573359.1_Silent_p.T115T O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 115 PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}. NA apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GGGCGGGGACCCTGGTGCTGC 0.726 NA C||| 1320 0.263578 0.1445 0.2608 5008 , , NA 7591 0.3859 NA 0.3598 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 C ,, 443,2741 27,389,1176 2 2 2 345,345,345 0.8 0.7 17 dbSNP_131 2 1700,4778 200,1300,1739 no coding-synonymous,coding-synonymous,coding-synonymous ALOX15B NM_001039130.1,NM_001039131.1,NM_001141.2 ,, 227,1689,2915 GG,GC,CC 26.2427,13.9133,22.1797 ,, 115/648,115/603,115/677 7942901 2143,7519 1592 3239 4831 SO:0001819 synonymous_variant U78294 CCDS11128.1, CCDS32558.1, CCDS32559.1 17p13.1 2013-03-20 2006-01-16 ENSG00000179593 ENSG00000179593 247 1.13.11.33 Arachidonate lipoxygenases 434 protein-coding gene gene with protein product 603697 arachidonate 15-lipoxygenase, second type NA 9177185 Standard NM_001039130 NA Approved 15-LOX-2 uc002gju.3 O15296 OTTHUMG00000108181 ENST00000572022.1:c.345C>G chr17.hg19:g.7942901C>G NA D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4 hg19 0.02 -0.350893 GACxCTG COVERED NOVEL ALOX15B-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441172.1 2 2.70814 KEEP 0 0 0 9 294 CC 0.99254 0.87116 0 + 3 60 107 0 0 7.505371 37 60 1310 60 ENST00000572022.1 0.075 0.877708 AURKB 9212 __UNKNOWN__ __UNKNOWN__ 17 8113628 8113628 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8113628T>G ENST00000585124.1 - 2 69 AURKB_ENST00000534871.1_Intron|AURKB_ENST00000316199.6_Intron NM_004217.3 NP_004208.2 Q96GD4 AURKB_HUMAN aurora kinase B NA NA abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146) chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712) breast(1)|central_nervous_system(1)|lung(2) 4 agggagggGTTGGACCGATCG 0.617 NA NA NA NA NA NA NA NA NA NA NSCLC(134;1161 2470 43664 51568) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF004022 CCDS11134.1, CCDS58514.1, CCDS67162.1 17p13.1 2013-01-17 2003-07-21 2003-07-23 ENSG00000178999 ENSG00000178999 9212 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 11390 protein-coding gene gene with protein product aurora-B, aurora-1, protein phosphatase 1, regulatory subunit 48 604970 serine/threonine kinase 12 STK12 NA 9858806 Standard NM_004217 NM_001256834 NA Approved Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48 uc002gkm.4 Q96GD4 OTTHUMG00000108189 ENST00000585124.1:c.25-61A>C chr17.hg19:g.8113628T>G NA B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46 hg19 CCDS11134.1 0.02 0.922775 GGTxGGA COVERED NOVEL AURKB-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000226995.2 0 10.21378 KEEP 0 1 19 41 1142 TT 1 0.999962 0 - 7 60 145 0 0 7.230637 93 60 2647 197 ENST00000585124.1 0.07 0.999962 ARHGEF15 22899 __UNKNOWN__ __UNKNOWN__ 17 8215534 8215534 __UNKNOWN__ Silent SNP C C T rs3744651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8215534C>T ENST00000361926.3 + 2 287 c.177C>T c.(175-177)acC>acT p.T59T ARHGEF15_ENST00000421050.1_Silent_p.T59T NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 59 Pro-rich. NA negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299) cytoplasm (GO:0005737)|dendrite (GO:0030425) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CAATGTGCACCCCCATCTTCT 0.617 NA C||| 2088 0.416933 0.4062 0.4424 5008 , , NA 11137 0.6468 NA 0.3211 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 C , 1667,2739 508.6+/-367.0 313,1041,849 93 95 94 177,177 2.1 1 17 dbSNP_107 94 2855,5745 447.6+/-361.6 465,1925,1910 no coding-synonymous,coding-synonymous ARHGEF15 NM_025014.1,NM_173728.3 , 778,2966,2759 TT,TC,CC 33.1977,37.8348,34.7686 , 59/842,59/842 8215534 4522,8484 2203 4300 6503 SO:0001819 synonymous_variant AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 22899 Rho guanine nucleotide exchange factors 15590 protein-coding gene gene with protein product Rho guanine exchange factor (GEF) 15 608504 NA 10048485 Standard NM_173728 NM_173728 NA Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.177C>T chr17.hg19:g.8215534C>T NA A8K6G1|Q8N449|Q9H8B4 hg19 CCDS11139.1 0.02 12.713268 CACxCCC COVERED 977 0.44734432234432236 210 0.4268292682926829 153 0.42265193370165743 369 0.6451048951048951 245 0.3232189973614776 c 7.455 0.643538 0.14451 0.378348 0.331977 ENSG00000198844 ENST00000455564 . . . 5.14 2.11 0.27256 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.99999999378766 . . . . . . T 0.41431 -0.9509 4 0.66056 D 0.02 -14.1856 5.1653 0.15082 0.0:0.6475:0.1706:0.182 rs3744651;rs61574661;rs3744651 . . . L 21 . ENSP00000413324:P21L P + 2 0 ARHGEF15 8156259 0.001000 0.12720 0.998000 0.56505 0.894000 0.52154 -0.282000 0.08445 0.358000 0.24211 -0.126000 0.14955 CCC NOVEL ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226993.2 2 5.820705 KEEP 0 3 93 52 1844 CC 1 1 0 + 10 60 358 0 0 21.554278 290 60 10485 520 ENST00000361926.3 0.033333 1 ARHGEF15 22899 __UNKNOWN__ __UNKNOWN__ 17 8216737 8216737 __UNKNOWN__ Intron SNP A A G rs2302867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8216737A>G ENST00000361926.3 + 4 1044 ARHGEF15_ENST00000421050.1_Intron NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 NA NA negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299) cytoplasm (GO:0005737)|dendrite (GO:0030425) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TATAGTAACCATCCCTGCTGG 0.537 NA A||| 2091 0.417532 0.4062 0.4452 5008 , , NA 16128 0.6488 NA 0.3211 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 22899 Rho guanine nucleotide exchange factors 15590 protein-coding gene gene with protein product Rho guanine exchange factor (GEF) 15 608504 NA 10048485 Standard NM_173728 NM_173728 NA Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.935-82A>G chr17.hg19:g.8216737A>G NA A8K6G1|Q8N449|Q9H8B4 hg19 CCDS11139.1 0.02 2.132223 ACCxTCC COVERED NOVEL ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226993.2 2 2.707593 KEEP 0 0 0 9 264 AA 0.99254 0.960208 0 + 4 60 141 0 0 9.887878 48 60 1671 64 ENST00000361926.3 0.076923 0.967425 ARHGEF15 22899 __UNKNOWN__ __UNKNOWN__ 17 8219478 8219478 __UNKNOWN__ Intron SNP A A G rs2270445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8219478A>G ENST00000361926.3 + 9 1814 ARHGEF15_ENST00000421050.1_Intron NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 NA NA negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299) cytoplasm (GO:0005737)|dendrite (GO:0030425) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TACCTGTCCCAGCTGCGGCCG 0.612 NA G||| 3154 0.629792 0.7776 0.6758 5008 , , NA 17059 0.744 NA 0.4692 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 G , 3124,1180 1154,816,182 10 10 10 , 1.2 0 17 dbSNP_100 10 4192,4230 1118,1956,1137 no intron,intron ARHGEF15 NM_025014.1,NM_173728.3 , 2272,2772,1319 GG,GA,AA 49.7744,27.4164,42.5114 , , 8219478 7316,5410 2152 4211 6363 SO:0001627 intron_variant AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 22899 Rho guanine nucleotide exchange factors 15590 protein-coding gene gene with protein product Rho guanine exchange factor (GEF) 15 608504 NA 10048485 Standard NM_173728 NM_173728 NA Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.1704+12A>G chr17.hg19:g.8219478A>G NA A8K6G1|Q8N449|Q9H8B4 hg19 CCDS11139.1 0.02 2.189116 CCCxGCT COVERED NOVEL ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226993.2 0 3.008962 KEEP 0 0 0 10 307 AA 0.992708 0.992571 0 + 4 60 146 0 0 9.385583 87 60 3180 111 ENST00000361926.3 0.043956 0.999862 ARHGEF15 22899 __UNKNOWN__ __UNKNOWN__ 17 8222777 8222777 __UNKNOWN__ Intron SNP G G T rs76317718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8222777G>T ENST00000361926.3 + 15 2379 ARHGEF15_ENST00000421050.1_Intron NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 NA NA negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299) cytoplasm (GO:0005737)|dendrite (GO:0030425) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 TGGGGGAGAAGCTAAACAGAA 0.517 NA G||| 406 0.0810703 0.0 0.0576 5008 , , NA 14646 0.3026 NA 0.0179 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 G , 32,4374 39.2+/-71.8 0,32,2171 112 117 115 , 0.2 0.1 17 dbSNP_132 115 103,8497 55.6+/-116.7 0,103,4197 no intron,intron ARHGEF15 NM_025014.1,NM_173728.3 , 0,135,6368 TT,TG,GG 1.1977,0.7263,1.038 , , 8222777 135,12871 2203 4300 6503 SO:0001627 intron_variant AB020722 CCDS11139.1 17p13.1 2011-11-16 ENSG00000198844 ENSG00000198844 22899 Rho guanine nucleotide exchange factors 15590 protein-coding gene gene with protein product Rho guanine exchange factor (GEF) 15 608504 NA 10048485 Standard NM_173728 NM_173728 NA Approved KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868 uc002glc.3 O94989 OTTHUMG00000108187 ENST00000361926.3:c.2270-40G>T chr17.hg19:g.8222777G>T NA A8K6G1|Q8N449|Q9H8B4 hg19 CCDS11139.1 0.02 4.013705 GAAxCTA COVERED NOVEL ARHGEF15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000226993.2 2 7.223334 KEEP 0 0 0 24 862 GG 0.999909 0.999909 0 + 6 60 195 0 0 11.848413 138 60 5150 203 ENST00000361926.3 0.041667 1 NDEL1 81565 __UNKNOWN__ __UNKNOWN__ 17 8339283 8339283 __UNKNOWN__ 5'UTR SNP C C T rs3744652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8339283C>T ENST00000380025.4 + 0 66 NDEL1_ENST00000299734.7_5'UTR|NDEL1_ENST00000334527.7_5'UTR|NDEL1_ENST00000585098.1_5'UTR|NDEL1_ENST00000402554.3_5'UTR Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 NA NA activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496) axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730) oligopeptidase activity (GO:0070012) large_intestine(6)|lung(4)|skin(3) 13 CTGAGCCGAGCGGCTGGGCGG 0.726 NA C||| 2137 0.426717 0.4289 0.4395 5008 , , NA 9667 0.4405 NA 0.3698 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF182078 CCDS11143.1, CCDS32564.1 17p13.1 2013-08-06 2013-08-06 2003-04-16 ENSG00000166579 ENSG00000166579 81565 17620 protein-coding gene gene with protein product 607538 nudE nuclear distribution gene E homolog (A. nidulans)-like 1, nudE nuclear distribution E homolog (A. nidulans)-like 1 NA 11163260, 11163259 Standard NM_030808 NM_001025579 NA Approved NUDEL, MITAP1, NDE1L1, NDE2 uc002glj.4 Q9GZM8 OTTHUMG00000108193 ENST00000380025.4:c.-93C>T chr17.hg19:g.8339283C>T NA B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50 hg19 0.02 4.595391 GAGxGGC COVERED NOVEL NDEL1-003 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000442478.1 1 38.223474 KEEP 0 0 0 127 4471 CC 1 0.999995 0 + 5 60 177 0 0 11.244759 106 60 3756 320 ENST00000380025.4 0.045045 0.999995 MYH10 4628 __UNKNOWN__ __UNKNOWN__ 17 8378266 8378266 __UNKNOWN__ 3'UTR SNP G G A rs386795089|rs10520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8378266G>A ENST00000269243.4 - 0 6925 MYH10_ENST00000396239.1_3'UTR|MYH10_ENST00000360416.3_3'UTR|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_3'UTR NM_005964.3 NP_005955.3 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle NA NA actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015) actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GGCTGGCGATGGGGAGGGGCC 0.612 NA G||| 1937 0.386781 0.379 0.3948 5008 , , NA 18923 0.4107 NA 0.3221 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M69181 CCDS11144.1, CCDS58515.1, CCDS73984.1 17p13 2011-09-27 2006-09-29 ENSG00000133026 ENSG00000133026 4628 Myosins / Myosin superfamily : Class II 7568 protein-coding gene gene with protein product 160776 myosin, heavy polypeptide 10, non-muscle NA 1860190 Standard NM_001256012 NA Approved NMMHCB uc002glm.4 P35580 OTTHUMG00000108195 ENST00000269243.4:c.*856C>T chr17.hg19:g.8378266G>A NA B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0 hg19 CCDS11144.1 0.02 6.566761 GATxGGG COVERED NOVEL MYH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000227001.2 2 20.397417 KEEP 0 1 32 79 2702 GG 1 1 0 - 7 60 270 0 0 17.45834 175 60 6030 320 ENST00000269243.4 0.038462 1 MYH10 4628 __UNKNOWN__ __UNKNOWN__ 17 8393642 8393642 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8393642G>A ENST00000269243.4 - 33 4930 MYH10_ENST00000396239.1_Intron|MYH10_ENST00000360416.3_Intron|MYH10_ENST00000379980.4_Intron NM_005964.3 NP_005955.3 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle NA NA actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015) actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGTGGAGGCCGCACCCTCTGC 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 101 96 98 NA NA 17 NA 8393642 2203 4300 6503 SO:0001627 intron_variant M69181 CCDS11144.1, CCDS58515.1, CCDS73984.1 17p13 2011-09-27 2006-09-29 ENSG00000133026 ENSG00000133026 4628 Myosins / Myosin superfamily : Class II 7568 protein-coding gene gene with protein product 160776 myosin, heavy polypeptide 10, non-muscle NA 1860190 Standard NM_001256012 NA Approved NMMHCB uc002glm.4 P35580 OTTHUMG00000108195 ENST00000269243.4:c.4791+15C>T chr17.hg19:g.8393642G>A NA B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0 hg19 CCDS11144.1 0.02 1.991416 GCCxCAC COVERED NOVEL MYH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000227001.2 2 7.521934 KEEP 0 0 0 25 783 GG 0.999931 0.999793 0 - 4 60 149 0 0 9.689408 87 60 2811 125 ENST00000269243.4 0.043956 0.999862 MYH10 4628 __UNKNOWN__ __UNKNOWN__ 17 8393900 8393900 __UNKNOWN__ Intron SNP G G C rs2270744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8393900G>C ENST00000269243.4 - 33 4717 MYH10_ENST00000396239.1_Intron|MYH10_ENST00000360416.3_Intron|MYH10_ENST00000379980.4_Intron NM_005964.3 NP_005955.3 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle NA NA actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015) actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GGAAAGAGTTGACCGGGGTGG 0.567 NA G||| 1900 0.379393 0.3419 0.3977 5008 , , NA 20253 0.4177 NA 0.3181 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 G 1456,2950 443.9+/-347.2 235,986,982 36 35 36 2.7 0 17 dbSNP_100 36 2913,5687 417.9+/-352.6 486,1941,1873 no intron MYH10 NM_005964.1 721,2927,2855 CC,CG,GG 33.8721,33.0458,33.5922 8393900 4369,8637 2203 4300 6503 SO:0001627 intron_variant M69181 CCDS11144.1, CCDS58515.1, CCDS73984.1 17p13 2011-09-27 2006-09-29 ENSG00000133026 ENSG00000133026 4628 Myosins / Myosin superfamily : Class II 7568 protein-coding gene gene with protein product 160776 myosin, heavy polypeptide 10, non-muscle NA 1860190 Standard NM_001256012 NA Approved NMMHCB uc002glm.4 P35580 OTTHUMG00000108195 ENST00000269243.4:c.4579-30C>G chr17.hg19:g.8393900G>C NA B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0 hg19 CCDS11144.1 0.02 2.118854 GTTxACC COVERED NOVEL MYH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000227001.2 1 6.320287 KEEP 0 0 0 21 721 GG 0.999869 0.999832 0 - 6 60 232 0 0 16.234799 93 60 3440 138 ENST00000269243.4 0.060606 0.999962 MYH10 4628 __UNKNOWN__ __UNKNOWN__ 17 8397315 8397315 __UNKNOWN__ Intron SNP C C T rs2277670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8397315C>T ENST00000269243.4 - 30 4102 MYH10_ENST00000396239.1_Intron|MYH10_ENST00000360416.3_Intron|MYH10_ENST00000379980.4_Intron NM_005964.3 NP_005955.3 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle NA NA actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015) actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGCATGAGAACGCCCAGTGAC 0.363 NA c||| 2080 0.415335 0.3933 0.428 5008 , , NA 18941 0.4375 NA 0.3708 False NA ,,, NA NA NA 2504 0.4591 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M69181 CCDS11144.1, CCDS58515.1, CCDS73984.1 17p13 2011-09-27 2006-09-29 ENSG00000133026 ENSG00000133026 4628 Myosins / Myosin superfamily : Class II 7568 protein-coding gene gene with protein product 160776 myosin, heavy polypeptide 10, non-muscle NA 1860190 Standard NM_001256012 NA Approved NMMHCB uc002glm.4 P35580 OTTHUMG00000108195 ENST00000269243.4:c.3964-112G>A chr17.hg19:g.8397315C>T NA B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0 hg19 CCDS11144.1 0.02 4.095148 GAAxGCC COVERED NOVEL MYH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000227001.2 0 4.814894 KEEP 0 0 0 16 521 CC 0.997832 0.997826 0 - 5 60 171 0 0 10.634211 107 60 3466 129 ENST00000269243.4 0.044643 0.999995 MYH10 4628 __UNKNOWN__ __UNKNOWN__ 17 8402669 8402669 __UNKNOWN__ Silent SNP C C T rs74852157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8402669C>T ENST00000269243.4 - 28 3915 c.3777G>A c.(3775-3777)gcG>gcA p.A1259A MYH10_ENST00000396239.1_Silent_p.A1280A|MYH10_ENST00000360416.3_Silent_p.A1290A|MYH10_ENST00000379980.4_Silent_p.A1275A NM_005964.3 NP_005955.3 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1259 NA actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015) actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) p.A1259A(1) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CCTGGACCTGCGCGTCGAGCT 0.592 NA C||| 132 0.0263578 0.0 0.0029 5008 , , NA 17541 0.125 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 6,4400 11.4+/-27.6 0,6,2197 158 131 140 3777 -7.4 0.1 17 dbSNP_132 140 3,8597 3.0+/-9.4 0,3,4297 no coding-synonymous MYH10 NM_005964.1 0,9,6494 TT,TC,CC 0.0349,0.1362,0.0692 1259/1977 8402669 9,12997 2203 4300 6503 SO:0001819 synonymous_variant M69181 CCDS11144.1, CCDS58515.1, CCDS73984.1 17p13 2011-09-27 2006-09-29 ENSG00000133026 ENSG00000133026 4628 Myosins / Myosin superfamily : Class II 7568 protein-coding gene gene with protein product 160776 myosin, heavy polypeptide 10, non-muscle NA 1860190 Standard NM_001256012 NA Approved NMMHCB uc002glm.4 P35580 OTTHUMG00000108195 ENST00000269243.4:c.3777G>A chr17.hg19:g.8402669C>T NA B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0 hg19 CCDS11144.1 0.02 6.37655 CTGxGCG COVERED NOVEL MYH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000227001.2 1 22.872871 KEEP 0 0 0 76 2625 CC 1 1 0 - 8 60 293 0 0 18.891291 173 60 6254 338 ENST00000269243.4 0.044199 1 MYH10 4628 __UNKNOWN__ __UNKNOWN__ 17 8416901 8416901 __UNKNOWN__ Silent SNP C C T rs11374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8416901C>T ENST00000269243.4 - 21 2745 c.2607G>A c.(2605-2607)acG>acA p.T869T MYH10_ENST00000396239.1_Silent_p.T890T|MYH10_ENST00000360416.3_Silent_p.T900T|MYH10_ENST00000379980.4_Silent_p.T885T NM_005964.3 NP_005955.3 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 869 NA actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015) actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) p.T869T(1) breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTTCCACCTTCGTCTGCTTCT 0.507 NA C||| 2120 0.423323 0.3835 0.4323 5008 , , NA 18617 0.502 NA 0.3519 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C 1685,2721 510.4+/-367.5 316,1053,834 188 146 160 2607 -10.2 0.2 17 dbSNP_52 160 3299,5301 494.0+/-373.7 626,2047,1627 no coding-synonymous MYH10 NM_005964.1 942,3100,2461 TT,TC,CC 38.3605,38.2433,38.3208 869/1977 8416901 4984,8022 2203 4300 6503 SO:0001819 synonymous_variant M69181 CCDS11144.1, CCDS58515.1, CCDS73984.1 17p13 2011-09-27 2006-09-29 ENSG00000133026 ENSG00000133026 4628 Myosins / Myosin superfamily : Class II 7568 protein-coding gene gene with protein product 160776 myosin, heavy polypeptide 10, non-muscle NA 1860190 Standard NM_001256012 NA Approved NMMHCB uc002glm.4 P35580 OTTHUMG00000108195 ENST00000269243.4:c.2607G>A chr17.hg19:g.8416901C>T NA B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0 hg19 CCDS11144.1 0.02 6.052615 CTTxGTC COVERED NOVEL MYH10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000227001.2 2 9.631012 KEEP 0 0 0 32 1093 CC 0.999997 0.999997 0 - 7 60 237 0 0 14.54874 154 60 5686 230 ENST00000269243.4 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 8696440 8696440 __UNKNOWN__ IGR SNP T T C rs12952135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8696440T>C NA NA SPDYE4 (34563 upstream) : MFSD6L (3995 downstream) NA NA NA gagaccatcctggctaacacg 0.587 NA T||| 1169 0.233427 0.0136 0.3329 5008 , , NA 12155 0.1617 NA 0.3847 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.8696440T>C NA hg19 0.02 -0.026319 TCCxGGC UNCOVERED NOVEL 0 3 2.407483 KEEP 3 0 0 8 257 TT 0 0 0 2 60 68 0 0 6.924677 1 48 37 12 0.666667 0 MFSD6L 162387 __UNKNOWN__ __UNKNOWN__ 17 8701116 8701116 __UNKNOWN__ Silent SNP G G A rs2242374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8701116G>A ENST00000329805.4 - 1 1551 c.1323C>T c.(1321-1323)ctC>ctT p.L441L NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 441 NA integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 GCTGCCCAGCGAGGCAGCTCA 0.572 NA G||| 971 0.19389 0.2625 0.1484 5008 , , NA 19332 0.2748 NA 0.0845 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 G 949,3457 353.3+/-312.1 111,727,1365 89 101 97 1323 -7.4 0.1 17 dbSNP_98 97 850,7750 193.8+/-239.4 34,782,3484 no coding-synonymous MFSD6L NM_152599.3 145,1509,4849 AA,AG,GG 9.8837,21.5388,13.8321 441/587 8701116 1799,11207 2203 4300 6503 SO:0001819 synonymous_variant AK093092 CCDS11146.1 17p13.1 2014-05-30 ENSG00000185156 ENSG00000185156 162387 26656 protein-coding gene gene with protein product NA Standard NM_152599 NM_152599 NA Approved FLJ35773 uc002glp.2 Q8IWD5 OTTHUMG00000178584 ENST00000329805.4:c.1323C>T chr17.hg19:g.8701116G>A NA Q6YL34|Q8NA76 hg19 CCDS11146.1 0.02 16.348911 AGCxAGG COVERED NOVEL MFSD6L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442554.1 3 13.241123 KEEP 0 0 0 44 1457 GG 1 1 0 - 15 60 501 0 0 29.53821 401 60 14128 523 ENST00000329805.4 0.036058 1 MFSD6L 162387 __UNKNOWN__ __UNKNOWN__ 17 8701799 8701799 __UNKNOWN__ Missense_Mutation SNP G G T rs17854013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:8701799G>T ENST00000329805.4 - 1 868 c.640C>A c.(640-642)Cct>Act p.P214T NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 214 NA P -> T (in Ref. 3; AAH40487). {ECO:0000305}. integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 TTCCCCCCAGGAAGCAAGGGG 0.567 NA G||| 1345 0.26857 0.2398 0.2147 5008 , , NA 16754 0.4256 NA 0.1889 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 G THR/PRO 950,3456 358.6+/-314.5 117,716,1370 69 76 74 640 3.9 0.6 17 dbSNP_123 74 1648,6952 303.6+/-306.5 152,1344,2804 yes missense MFSD6L NM_152599.3 38 269,2060,4174 TT,TG,GG 19.1628,21.5615,19.9754 benign 214/587 8701799 2598,10408 2203 4300 6503 SO:0001583 missense AK093092 CCDS11146.1 17p13.1 2014-05-30 ENSG00000185156 ENSG00000185156 162387 26656 protein-coding gene gene with protein product NA Standard NM_152599 NM_152599 NA Approved FLJ35773 uc002glp.2 Q8IWD5 OTTHUMG00000178584 ENST00000329805.4:c.640C>A chr17.hg19:g.8701799G>T ENSP00000330051:p.Pro214Thr NA Q6YL34|Q8NA76 hg19 CCDS11146.1 0.02 7.745215 CAGxAAG COVERED 575 0.2632783882783883 102 0.2073170731707317 80 0.22099447513812154 253 0.4423076923076923 140 0.18469656992084432 G 8.956 0.969329 0.18659 0.215615 0.191628 ENSG00000185156 ENST00000329805 T 0.43688 0.94 4.86 3.89 0.44902 . 0.464570 0.19760 N 0.106692 T 0.00012 0.0000 L 0.44542 1.39 0.58432 P 1.0000000000287557E-6 P 0.49307 0.922 P 0.49012 0.598 T 0.39099 -0.9630 9 0.11182 T 0.66 -27.0946 12.0746 0.53636 0.0:0.2203:0.7797:0.0 rs17854013 214 Q8IWD5 MFS6L_HUMAN T 214 ENSP00000330051:P214T ENSP00000330051:P214T P - 1 0 MFSD6L 8642524 0.002000 0.14202 0.560000 0.28344 0.070000 0.16714 1.414000 0.34736 1.257000 0.44085 0.655000 0.94253 CCT NOVEL MFSD6L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442554.1 1 6.051339 KEEP 0 1 25 29 953 GG 0.999997 0.999997 0 - 9 60 314 0 0 19.226983 220 60 8043 296 ENST00000329805.4 0.039301 1 USP43 124739 __UNKNOWN__ __UNKNOWN__ 17 9578321 9578321 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:9578321G>T ENST00000285199.7 + 4 929 USP43_ENST00000570827.2_Intron|USP43_ENST00000570475.1_Intron NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 NA NA ubiquitin-dependent protein catabolic process (GO:0006511) cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GTCGCGGCTTGCCCGGTGAAC 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 180 174 176 NA NA 17 NA 9578321 2053 4188 6241 SO:0001627 intron_variant AK055188 CCDS45610.1, CCDS58516.1 17p12 2005-08-08 2005-08-08 ENSG00000154914 124739 Ubiquitin-specific peptidases 20072 protein-coding gene gene with protein product ubiquitin specific protease 43 NA 12838346 Standard NM_153210 NM_153210 NA Approved FLJ30626 uc010cod.4 Q70EL4 ENST00000285199.7:c.833+21G>T chr17.hg19:g.9578321G>T NA A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6 hg19 CCDS45610.1 0.02 4.450935 CTTxCCC COVERED NOVEL USP43-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000439855.3 3 5.974905 KEEP 0 1 7 23 577 GG 0.999909 0.999909 0 + 26 60 353 0 0 12.458661 274 60 6799 362 ENST00000285199.7 0.086667 1 RCVRN 5957 __UNKNOWN__ __UNKNOWN__ 17 9799670 9799670 __UNKNOWN__ 3'UTR SNP C C G rs9903816 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:9799670C>G ENST00000226193.5 - 0 2785 NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin NA NA phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601) dendrite (GO:0030425) calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048) endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 CACGTTTGCTCTCCACACAGA 0.453 NA C||| 598 0.119409 0.2231 0.1167 5008 , , NA 22261 0.1181 NA 0.0199 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC001720 CCDS11151.1 17p13.1 2013-01-10 2006-09-26 ENSG00000109047 ENSG00000109047 5957 EF-hand domain containing 9937 protein-coding gene gene with protein product 179618 RCV1 NA 1387789, 12507501, 1467959, 12789533 Standard NM_002903 NM_002903 NA Approved uc002gme.1 P35243 OTTHUMG00000130268 ENST00000226193.5:c.*1742G>C chr17.hg19:g.9799670C>G NA Q53XL0 hg19 CCDS11151.1 0.02 5.021823 GCTxTCC COVERED NOVEL RCVRN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252600.2 0 6.319992 KEEP 0 0 0 21 723 CC 0.999869 0.999868 0 - 5 60 193 0 0 12.662631 115 60 4311 159 ENST00000226193.5 0.041667 0.999999 MYH13 8735 __UNKNOWN__ __UNKNOWN__ 17 10216510 10216510 __UNKNOWN__ Silent SNP G G A rs4791401 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:10216510G>A ENST00000418404.3 - 29 4309 c.4146C>T c.(4144-4146)gaC>gaT p.D1382D MYH13_ENST00000252172.4_Silent_p.D1382D|RP11-401O9.4_ENST00000609088.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1382 NA cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936) extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GCTGAATGGCGTCCGTCTCGT 0.617 NA G||| 1529 0.305312 0.3359 0.4294 5008 , , NA 16501 0.2312 NA 0.3936 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 G 1540,2866 486.4+/-360.6 273,994,936 162 151 155 4146 -0.3 1 17 dbSNP_111 155 3455,5145 507.8+/-376.9 703,2049,1548 no coding-synonymous MYH13 NM_003802.2 976,3043,2484 AA,AG,GG 40.1744,34.9523,38.4054 1382/1939 10216510 4995,8011 2203 4300 6503 SO:0001819 synonymous_variant AF075248 CCDS45613.1 17p13 2011-09-27 2006-09-29 ENSG00000006788 8735 Myosins / Myosin superfamily : Class II 7571 protein-coding gene gene with protein product extraocular muscle myosin heavy chain, extraocular myosin heavy chain 603487 myosin, heavy polypeptide 13, skeletal muscle NA 9806854 Standard NM_003802 NM_003802 NA Approved MyHC-eo uc002gmk.1 Q9UKX3 ENST00000418404.3:c.4146C>T chr17.hg19:g.10216510G>A NA O95252|Q9P0U8 hg19 CCDS45613.1 0.02 7.039642 GGCxTCC COVERED NOVEL MYH13-003 KNOWN alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442255.1 2 8.425539 KEEP 0 0 0 28 929 GG 0.999997 0.999997 0 - 8 60 292 0 0 19.440459 143 60 4921 210 ENST00000418404.3 0.05298 1 MYH13 8735 __UNKNOWN__ __UNKNOWN__ 17 10248876 10248876 __UNKNOWN__ Missense_Mutation SNP T T G rs370306502 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:10248876T>G ENST00000418404.3 - 13 1484 c.1321A>C c.(1321-1323)Atg>Ctg p.M441L MYH13_ENST00000252172.4_Missense_Mutation_p.M441L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 441 Myosin motor. NA cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936) extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CGGGTGACCATCCACAGGAAC 0.517 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 17886 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 175 164 168 NA NA 17 NA 10248876 2203 4298 6501 SO:0001583 missense AF075248 CCDS45613.1 17p13 2011-09-27 2006-09-29 ENSG00000006788 8735 Myosins / Myosin superfamily : Class II 7571 protein-coding gene gene with protein product extraocular muscle myosin heavy chain, extraocular myosin heavy chain 603487 myosin, heavy polypeptide 13, skeletal muscle NA 9806854 Standard NM_003802 NM_003802 NA Approved MyHC-eo uc002gmk.1 Q9UKX3 ENST00000418404.3:c.1321A>C chr17.hg19:g.10248876T>G ENSP00000404570:p.Met441Leu NA O95252|Q9P0U8 hg19 CCDS45613.1 0.02 9.241618 CCAxCCA COVERED . . . . . . . . . . T 13.78 2.338592 0.41398 . . ENSG00000006788 ENST00000252172;ENST00000418404 D 0.84589 -1.87 4.33 4.33 0.51752 Myosin head, motor domain (2); . . . . T 0.57829 0.2080 N 0.00729 -1.24 0.46376 D 0.999012 B 0.02656 0.0 B 0.14023 0.01 T 0.62229 -0.6898 9 0.02654 T 1 . 13.9543 0.64137 0.0:0.0:0.0:1.0 . 441 Q9UKX3 MYH13_HUMAN L 441;116 ENSP00000252172:M441L ENSP00000252172:M441L M - 1 0 MYH13 10189601 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 4.870000 0.63035 1.946000 0.56461 0.459000 0.35465 ATG NOVEL MYH13-003 KNOWN alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442255.1 3 5.113088 KEEP 2 0 0 17 495 TT 0.999366 0.999366 0 - 8 60 313 0 0 20.054716 221 60 8003 290 ENST00000418404.3 0.034934 1 MYH2 4620 __UNKNOWN__ __UNKNOWN__ 17 10427924 10427924 __UNKNOWN__ Intron SNP G G A rs1042236 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:10427924G>A ENST00000532183.2 - 17 2243 CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.A1678A|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000245503.5_Silent_p.A1678A Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult NA NA Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823) A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCTCCACCATGGCCAGCTGTT 0.557 NA g||| 1597 0.31889 0.0976 0.3602 5008 , , NA 18423 0.7302 NA 0.1541 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 G , 498,3908 229.4+/-244.0 31,436,1736 98 87 91 5034,5034 2.1 1 17 dbSNP_86 91 1352,7248 262.0+/-284.2 100,1152,3048 no coding-synonymous,coding-synonymous MYH2 NM_001100112.1,NM_017534.5 , 131,1588,4784 AA,AG,GG 15.7209,11.3028,14.2242 , 1678/1942,1678/1942 10427924 1850,11156 2203 4300 6503 SO:0001627 intron_variant CCDS11156.1 17p13.1 2014-02-04 2006-09-29 ENSG00000125414 ENSG00000125414 4620 Myosins / Myosin superfamily : Class II 7572 protein-coding gene gene with protein product 160740 myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion body myopathy 3, autosomal dominant IBM3 NA 7545970, 11889243 Standard NM_017534 NM_001100112 NA Approved MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A uc010coi.3 Q9UKX2 OTTHUMG00000130363 ENST00000532183.2:c.1975-3175C>T chr17.hg19:g.10427924G>A NA A0AVL4|Q14322|Q16229|Q567P6|Q86T56 hg19 0.02 5.437562 CATxGCC COVERED NOVEL MYH2-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000394461.43 0 3.912749 KEEP 0 0 0 13 457 GG 0.994391 0.994391 0 - 6 60 209 0 0 12.122597 190 60 7038 230 ENST00000532183.2 0.030612 1 MYH3 4621 __UNKNOWN__ __UNKNOWN__ 17 10541741 10541741 __UNKNOWN__ Silent SNP A A G rs201626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:10541741A>G ENST00000583535.1 - 27 3435 c.3348T>C c.(3346-3348)atT>atC p.I1116I MYH3_ENST00000226209.7_Silent_p.I1116I NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1116 NA actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017) actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCAGCTCCTCAATTCGAGCCT 0.622 NA A||| 1307 0.260982 0.1422 0.2853 5008 , , NA 14201 0.5923 NA 0.0815 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 A 566,3786 31,504,1641 19 22 21 3348 -10.7 0 17 dbSNP_79 21 753,7765 37,679,3543 no coding-synonymous MYH3 NM_002470.3 68,1183,5184 GG,GA,AA 8.8401,13.0055,10.2486 1116/1941 10541741 1319,11551 2176 4259 6435 SO:0001819 synonymous_variant CCDS11157.1 17p13.1 2013-09-19 2006-09-29 ENSG00000109063 ENSG00000109063 4621 Myosins / Myosin superfamily : Class II 7573 protein-coding gene gene with protein product myosin, skeletal, heavy chain, embryonic 1, muscle embryonic myosin heavy chain 3 160720 myosin, heavy polypeptide 3, skeletal muscle, embryonic NA 2726495 Standard NM_002470 NM_002470 NA Approved MYHC-EMB, MYHSE1, HEMHC, SMHCE uc002gmq.2 P11055 OTTHUMG00000130367 ENST00000583535.1:c.3348T>C chr17.hg19:g.10541741A>G NA Q15492 hg19 CCDS11157.1 0.02 4.162324 CTCxATT COVERED NOVEL MYH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252734.2 1 11.428099 KEEP 0 0 0 38 1098 AA 1 1 0 - 7 60 262 0 0 17.779405 120 60 4174 218 ENST00000583535.1 0.055118 1 TMEM220 388335 __UNKNOWN__ __UNKNOWN__ 17 10633181 10633181 __UNKNOWN__ 5'UTR SNP A A G rs3826448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:10633181A>G ENST00000578345.1 - 0 122 CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.5_ENST00000583343.1_RNA|TMEM220_ENST00000341871.3_5'UTR|CTC-297N7.5_ENST00000580899.1_RNA|TMEM220_ENST00000455996.2_5'UTR|CTC-297N7.5_ENST00000583012.1_RNA|CTC-297N7.5_ENST00000583115.1_RNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000579114.1_RNA Q6QAJ8 TM220_HUMAN transmembrane protein 220 NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(1)|lung(1)|prostate(2) 5 CTCGGAGAACACGGCGCGGGG 0.736 NA G||| 2697 0.538538 0.7012 0.4697 5008 , , NA 12260 0.5615 NA 0.4881 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 G 1434,1506 384,666,420 2 3 2 -2.4 0 17 dbSNP_107 2 2052,4232 438,1176,1528 no utr-5 TMEM220 NM_001004313.1 822,1842,1948 GG,GA,AA 32.6544,48.7755,37.7927 10633181 3486,5738 1470 3142 4612 SO:0001623 5_prime_UTR_variant CCDS32567.1 17p13.1 2008-08-08 ENSG00000187824 ENSG00000187824 388335 33757 protein-coding gene gene with protein product NA Standard NM_001004313 NM_001004313 NA Approved uc002gmx.3 Q6QAJ8 ENST00000578345.1:c.-13T>C chr17.hg19:g.10633181A>G NA A1YRJ4|B2RNE4|B4DJ52|B9EGW3 hg19 0.02 4.16832 AACxCGG COVERED NOVEL TMEM220-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000440335.1 1 22.943507 KEEP 0 3 107 114 3373 AA 1 0.999997 0 - 6 60 187 0 0 11.375438 108 60 3600 327 ENST00000578345.1 0.052632 0.999997 SHISA6 388336 __UNKNOWN__ __UNKNOWN__ 17 11166782 11166782 __UNKNOWN__ Silent SNP G G A rs62000368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:11166782G>A ENST00000441885.3 + 2 898 c.738G>A c.(736-738)acG>acA p.T246T SHISA6_ENST00000409168.3_Silent_p.T246T|SHISA6_ENST00000432116.3_Silent_p.T246T NM_207386.3 NP_997269.2 Q6ZSJ9 SHSA6_HUMAN shisa family member 6 246 NA alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281) breast(1)|endometrium(4) 5 AAGAGAACACGCCGGTCAGAT 0.517 NA G||| 502 0.10024 0.1067 0.0605 5008 , , NA 18952 0.1677 NA 0.0706 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 G ,, 149,1235 8,133,551 192 154 165 738,738,738 -5.5 0.9 17 dbSNP_129 165 223,2959 7,209,1375 no coding-synonymous,coding-synonymous,coding-synonymous SHISA6 NM_001173461.1,NM_001173462.1,NM_207386.3 ,, 15,342,1926 AA,AG,GG 7.0082,10.7659,8.1472 ,, 246/501,246/533,246/552 11166782 372,4194 692 1591 2283 SO:0001819 synonymous_variant AK127379, AK128003 CCDS45615.1, CCDS54089.1, CCDS54090.1 17p13.1-p12 2013-07-31 2013-07-31 ENSG00000188803 ENSG00000188803 388336 Shisa homologs 34491 protein-coding gene gene with protein product shisa homolog 6 (Xenopus laevis) NA Standard NM_207386 NM_207386 NA Approved FLJ45455 uc002gnc.2 Q6ZSJ9 OTTHUMG00000154121 ENST00000441885.3:c.738G>A chr17.hg19:g.11166782G>A NA B3KXV5|Q4PL63 hg19 CCDS45615.1 0.02 5.782379 CACxCCG COVERED NOVEL SHISA6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000333969.3 2 8.728298 KEEP 0 0 0 29 1029 GG 0.999997 0.999997 0 + 8 60 276 0 0 16.987055 184 60 6630 275 ENST00000441885.3 0.041667 1 MYOCD 93649 __UNKNOWN__ __UNKNOWN__ 17 12664177 12664177 __UNKNOWN__ Intron SNP T T C rs16946572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:12664177T>C ENST00000343344.4 + 12 2245 MYOCD_ENST00000425538.1_Intron|RP11-1090M7.1_ENST00000584772.1_RNA Q8IZQ8 MYCD_HUMAN myocardin NA NA cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012) nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TCTCGCACATTTTTAGAGCTG 0.423 NA T||| 1180 0.235623 0.0439 0.2219 5008 , , NA 19967 0.4058 NA 0.3042 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF532596 CCDS11163.1, CCDS54091.1 17p11.2 2004-03-01 ENSG00000141052 ENSG00000141052 93649 16067 protein-coding gene gene with protein product 606127 NA 11439182, 12397177 Standard NM_153604 XM_005256863 NA Approved MYCD uc002gno.2 Q8IZQ8 OTTHUMG00000058767 ENST00000343344.4:c.2245+153T>C chr17.hg19:g.12664177T>C NA Q5UBU5|Q8N7Q1 hg19 CCDS11163.1 0.02 2.350369 CATxTTT COVERED NOVEL MYOCD-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129950.1 0 2.708284 KEEP 0 0 0 9 295 TT 0.99254 0.992102 0 + 5 60 192 0 0 13.355565 79 60 2814 100 ENST00000343344.4 0.059524 0.999559 COX10 1352 __UNKNOWN__ __UNKNOWN__ 17 14095195 14095195 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:14095195A>G ENST00000261643.3 + 6 772 COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_Intron NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) NA NA aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495) cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CCAGATCAGTACTGCCTCTAC 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U09466 CCDS11166.1 17p12 2013-05-24 2012-10-15 ENSG00000006695 ENSG00000006695 1352 Mitochondrial respiratory chain complex assembly factors 2260 protein-coding gene gene with protein product heme A: farnesyltransferase, protoheme IX farnesyltransferase, mitochondrial, heme O synthase 602125 COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase), COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) NA 9177788, 12928484 Standard NM_001303 NM_001303 NA Approved uc002gof.4 Q12887 OTTHUMG00000058814 ENST00000261643.3:c.696-111A>G chr17.hg19:g.14095195A>G NA B2R6U5|B4DJ50|O15334|Q969F7 hg19 CCDS11166.1 0.02 16.348037 AGTxCTG COVERED NOVEL COX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130003.1 5 12.970943 KEEP 25 1 37 56 1702 AA 1 1 0 + 18 40 692 0 0 46.017494 377 60 13274 539 ENST00000261643.3 0.04557 1 COX10 1352 __UNKNOWN__ __UNKNOWN__ 17 14095752 14095752 __UNKNOWN__ Intron SNP A A G rs369739032 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:14095752A>G ENST00000261643.3 + 6 1005 COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_Intron NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) NA NA aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495) cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) ACTTTCCCTTATAGGGAATGT 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U09466 CCDS11166.1 17p12 2013-05-24 2012-10-15 ENSG00000006695 ENSG00000006695 1352 Mitochondrial respiratory chain complex assembly factors 2260 protein-coding gene gene with protein product heme A: farnesyltransferase, protoheme IX farnesyltransferase, mitochondrial, heme O synthase 602125 COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase), COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) NA 9177788, 12928484 Standard NM_001303 NM_001303 NA Approved uc002gof.4 Q12887 OTTHUMG00000058814 ENST00000261643.3:c.928+214A>G chr17.hg19:g.14095752A>G NA B2R6U5|B4DJ50|O15334|Q969F7 hg19 CCDS11166.1 0.02 4.683693 CTTxTAG COVERED NOVEL COX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130003.1 1 2.406969 KEEP 1 0 0 8 239 AA 0.99257 0.992566 0 + 9 27 335 0 0 24.159757 104 60 3788 129 ENST00000261643.3 0.079646 0.999995 COX10 1352 __UNKNOWN__ __UNKNOWN__ 17 14111504 14111504 __UNKNOWN__ 3'UTR SNP C C A rs2071245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:14111504C>A ENST00000261643.3 + 0 2383 NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) NA NA aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495) cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) CTCCTGAATTCAGAAATTAGC 0.483 NA C||| 197 0.0393371 0.0023 0.0879 5008 , , NA 19464 0.0843 NA 0.0099 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U09466 CCDS11166.1 17p12 2013-05-24 2012-10-15 ENSG00000006695 ENSG00000006695 1352 Mitochondrial respiratory chain complex assembly factors 2260 protein-coding gene gene with protein product heme A: farnesyltransferase, protoheme IX farnesyltransferase, mitochondrial, heme O synthase 602125 COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase), COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) NA 9177788, 12928484 Standard NM_001303 NM_001303 NA Approved uc002gof.4 Q12887 OTTHUMG00000058814 ENST00000261643.3:c.*974C>A chr17.hg19:g.14111504C>A NA B2R6U5|B4DJ50|O15334|Q969F7 hg19 CCDS11166.1 0.02 6.542654 ATTxAGA COVERED NOVEL COX10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130003.1 0 4.514701 KEEP 0 0 0 15 527 CC 0.99649 0.99649 0 + 8 60 283 0 0 18.286843 154 60 5900 208 ENST00000261643.3 0.049383 1 HS3ST3B1 9953 __UNKNOWN__ __UNKNOWN__ 17 14249433 14249433 __UNKNOWN__ 3'UTR SNP C C T rs73979332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:14249433C>T ENST00000360954.2 + 0 2079 NM_006041.1 NP_006032.1 Q9Y662 HS3SB_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1 NA NA carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887) [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872) large_intestine(3)|lung(3)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CAGCAGCCTCCTTGCAGATGT 0.562 NA C||| 697 0.139177 0.1407 0.098 5008 , , NA 14630 0.2242 NA 0.0596 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF105377 CCDS11167.1 17p12 2007-04-02 ENSG00000125430 ENSG00000125430 9953 2.8.2.23 Sulfotransferases, membrane-bound 5198 protein-coding gene gene with protein product 604058 NA 9988767 Standard NM_006041 NM_006041 NA Approved 3OST3B1, 30ST3B1 uc002goh.1 Q9Y662 OTTHUMG00000058810 ENST00000360954.2:c.*470C>T chr17.hg19:g.14249433C>T NA B3KN58|D3DTS6 hg19 CCDS11167.1 0.02 9.09455 CTCxTTG COVERED NOVEL HS3ST3B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129998.1 6 16.251666 KEEP 0 0 0 54 1882 CC 1 1 0 + 12 60 444 0 0 29.834466 211 60 7816 323 ENST00000360954.2 0.053812 1 TVP23C-CDRT4 100533496 __UNKNOWN__ __UNKNOWN__ 17 15458722 15458722 __UNKNOWN__ Intron SNP T T C rs148282820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15458722T>C ENST00000522212.2 - 2 125 TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Intron|TVP23C_ENST00000584811.1_Intron|TVP23C_ENST00000428082.2_Intron|TVP23C_ENST00000518321.1_Intron NM_001204478.1 NP_001191407.1 TVP23C-CDRT4 readthrough NA NA NA CAAAATTCAGTGTTTACACAG 0.373 NA .||| 1450 0.289537 0.1415 0.3127 5008 , , NA 22993 0.5119 NA 0.2614 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 T ,, 632,3774 40,552,1611 87 80 82 ,, -0.1 0 17 dbSNP_134 82 2145,6455 271,1603,2426 no intron,intron,intron FAM18B2,FAM18B2-CDRT4 NM_001135036.1,NM_001204478.1,NM_145301.2 ,, 311,2155,4037 CC,CT,TT 24.9419,14.3441,21.3517 ,, ,, 15458722 2777,10229 2203 4300 6503 SO:0001627 intron_variant CCDS56021.1 17p12 2012-11-29 2012-11-29 2012-11-29 ENSG00000259024 ENSG00000259024 100533496 42961 other readthrough FAM18B2-CDRT4 readthrough FAM18B2-CDRT4 NA Standard NM_001204478 NA Approved OTTHUMG00000165004 ENST00000522212.2:c.13-44A>G chr17.hg19:g.15458722T>C NA hg19 CCDS56021.1 0.02 12.26829 CAGxGTT COVERED NOVEL TVP23C-CDRT4-001 PUTATIVE non_canonical_other|basic|appris_principal|readthrough_transcript|CCDS protein_coding NA protein_coding OTTHUMT00000413531.1 6 13.411469 KEEP 2 2 67 68 2189 TT 1 1 0 - 18 54 595 0 0 38.151685 297 55 10811 474 ENST00000522212.2 0.057143 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15475080 15475080 __UNKNOWN__ 3'UTR SNP T T A rs377482971 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15475080T>A ENST00000455584.2 - 0 5238 NA NA NA gataaacaaattacggctgaa 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000455584.2:c.*2333A>T chr17.hg19:g.15475080T>A NA hg19 0.02 11.106032 AAAxTAC COVERED NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 5 4.648954 KEEP 14 4 130 61 1888 TT 1 1 0 - 17 47 582 0 0 36.905305 328 60 11794 493 ENST00000455584.2 0.049275 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15475319 15475319 __UNKNOWN__ 3'UTR SNP C C T rs2323747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15475319C>T ENST00000455584.2 - 0 4999 NA NA NA gaattggctacagaggggcat 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000455584.2:c.*2094G>A chr17.hg19:g.15475319C>T NA hg19 0.02 4.17077 CTAxAGA COVERED NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 6 4.448518 KEEP 0 1 29 25 899 CC 0.999957 0.999956 0 - 6 60 220 0 0 14.543894 113 60 4166 178 ENST00000455584.2 0.05042 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15475601 15475601 __UNKNOWN__ 3'UTR SNP C C G rs236803 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15475601C>G ENST00000455584.2 - 0 4717 NA NA NA caccatgcaaccctgaccata 0.448 NA .||| 1306 0.260783 0.4206 0.2176 5008 , , NA 16955 0.495 NA 0.0268 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000455584.2:c.*1812G>C chr17.hg19:g.15475601C>G NA hg19 0.02 36.618036 CAAxCCT COVERED NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 5 30.700484 KEEP 1 0 0 102 3652 CC 1 1 0 - 37 60 1414 1 0 94.287638 749 60 27917 1079 ENST00000455584.2 0.047074 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15476190 15476190 __UNKNOWN__ 3'UTR SNP A A T rs236802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15476190A>T ENST00000455584.2 - 0 4128 NA NA NA agccagaaataagttgtacaa 0.488 NA .||| 762 0.152157 0.1188 0.1556 5008 , , NA 17282 0.4167 NA 0.0179 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000455584.2:c.*1223T>A chr17.hg19:g.15476190A>T NA hg19 0.02 12.463693 AATxAGT COVERED NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 6 9.961562 KEEP 5 1 34 45 1350 AA 1 1 0 - 12 60 439 0 0 27.122254 326 60 11539 446 ENST00000455584.2 0.035503 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15477358 15477358 __UNKNOWN__ 3'UTR SNP C C G rs236801 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15477358C>G ENST00000455584.2 - 0 2960 SNORA74_ENST00000516320.1_RNA NA NA NA GTGTCTCTCACGCTGCTGGGA 0.493 NA .||| 947 0.189097 0.2254 0.1715 5008 , , NA 17069 0.4444 NA 0.0179 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000455584.2:c.*55G>C chr17.hg19:g.15477358C>G NA hg19 0.02 14.630005 TCAxGCT COVERED NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 3 13.240207 KEEP 2 0 0 44 1460 CC 1 1 0 - 14 49 524 0 0 33.928779 316 60 10896 428 ENST00000455584.2 0.042424 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15477417 15477417 __UNKNOWN__ Missense_Mutation SNP A A G rs28420774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15477417A>G ENST00000455584.2 - 17 2901 c.2858T>C c.(2857-2859)cTc>cCc p.L953P SNORA74_ENST00000516320.1_RNA NA NA NA ACTGTTCTAGAGGCTTCTGGC 0.512 NA .||| 2442 0.48762 0.8714 0.4121 5008 , , NA 15409 0.5476 NA 0.2515 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000455584.2:c.2858T>C chr17.hg19:g.15477417A>G ENSP00000402644:p.Leu953Pro NA hg19 0.02 10.243416 TAGxGGC COVERED 1004 0.4597069597069597 402 0.8170731707317073 131 0.36187845303867405 302 0.527972027972028 169 0.22295514511873352 . 1.929 -0.446481 0.04604 . . ENSG00000251537 ENST00000455584 . . . . . . . . . . . T 0.00012 0.0000 . . . 0.54753 P 1.7000000000044757E-5 . . . . . . T 0.28554 -1.0040 2 . . . . 1.4576 0.02388 0.3342:0.0:0.3319:0.3338 rs28420774 . . . P 968 . . S - 1 0 RP11-385D13.1 15418142 0.153000 0.22777 0.011000 0.14972 0.162000 0.22319 -0.259000 0.08721 -1.986000 0.00983 -1.973000 0.00462 TCT NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 2 12.638588 KEEP 0 0 0 42 1344 AA 1 1 0 - 8 49 285 0 0 16.799134 253 60 9429 359 ENST00000455584.2 0.030651 1 RP11-385D13.1 0 __UNKNOWN__ __UNKNOWN__ 17 15508521 15508521 __UNKNOWN__ Intron SNP T T C rs2190756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15508521T>C ENST00000455584.2 - 13 2407 CDRT1_ENST00000395906.3_Intron NA NA NA GATCATGATGTCTTTGGACTC 0.493 NA C||| 2292 0.457668 0.7179 0.3372 5008 , , NA 16711 0.4851 NA 0.2475 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 31 60 51 NA NA 17 NA 15508521 2025 4256 6281 SO:0001627 intron_variant NA NA NA NA ENST00000455584.2:c.2363+15A>G chr17.hg19:g.15508521T>C NA hg19 0.02 1.938772 ATGxCTT COVERED NOVEL RP11-385D13.1-001 NOVEL basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363271.2 0 3.007301 KEEP 3 0 0 10 289 TT 0.992708 0.990921 0 - 4 40 145 0 0 9.652689 70 60 2505 95 ENST00000455584.2 0.054054 0.9982 AC005324.6 0 __UNKNOWN__ __UNKNOWN__ 17 15652147 15652147 __UNKNOWN__ RNA SNP C C T rs113579739 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15652147C>T ENST00000580194.1 - 0 359 NA NA NA GGACCAACCACCCTGGGCCTC 0.547 NA .||| 1636 0.326677 0.3956 0.2824 5008 , , NA 11510 0.252 NA 0.3807 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000580194.1: chr17.hg19:g.15652147C>T NA hg19 0.02 2.155985 CCAxCCT COVERED NOVEL AC005324.6-003 KNOWN basic antisense NA antisense OTTHUMT00000444652.1 0 3.61107 KEEP 0 0 0 12 396 CC 0.993634 0.991202 0 - 16 40 568 0 0 47.872244 56 50 1974 109 ENST00000580194.1 0.222222 0.997553 NCOR1 9611 __UNKNOWN__ __UNKNOWN__ 17 15942336 15942336 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:15942336G>A ENST00000268712.3 - 44 7213 NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 NA NA CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) gcccgcctccgccccccaaag 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF044209 CCDS11175.1, CCDS54094.1, CCDS54095.1 17p11.2 2014-06-12 2010-06-10 ENSG00000141027 ENSG00000141027 9611 7672 protein-coding gene gene with protein product thyroid hormone- and retinoic acid receptor-associated corepressor 1, protein phosphatase 1, regulatory subunit 109 600849 nuclear receptor co-repressor 1 NA 7566114, 9724795 Standard NM_006311 NM_006311 NA Approved N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109 uc002gpo.3 O75376 OTTHUMG00000059309 ENST00000268712.3:c.6955+410C>T chr17.hg19:g.15942336G>A NA B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18 hg19 CCDS11175.1 0.02 -0.052636 TCCxCCC UNCOVERED NOVEL NCOR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131751.5 2 3.009308 KEEP 0 0 0 10 331 GG 0.992708 0.036498 0 - 2 60 74 0 0 6.695707 4 60 137 23 ENST00000268712.3 0.333333 0.036766 TRPV2 51393 __UNKNOWN__ __UNKNOWN__ 17 16321032 16321032 __UNKNOWN__ Missense_Mutation SNP G G C rs3813768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16321032G>C ENST00000338560.7 + 2 449 c.50G>C c.(49-51)gGa>gCa p.G17A TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 17 Required for interaction with SLC50A1. {ECO:0000250}. NA G -> A (in dbSNP:rs3813768). calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810) axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075) p.G17A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ACATTAGATGGAGGCCAAGAA 0.582 NA G||| 240 0.0479233 0.0 0.0115 5008 , , NA 20115 0.1994 NA 0.0 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ALA/GLY 12,4394 19.1+/-41.9 0,12,2191 74 65 68 50 3.5 0 17 dbSNP_107 68 20,8580 14.0+/-48.4 0,20,4280 yes missense TRPV2 NM_016113.4 60 0,32,6471 CC,CG,GG 0.2326,0.2724,0.246 benign 17/765 16321032 32,12974 2203 4300 6503 SO:0001583 missense AF129112 CCDS32576.1 17p11.2 2013-01-10 ENSG00000187688 ENSG00000187688 51393 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18082 protein-coding gene gene with protein product 606676 NA 10201375, 16382100 Standard NM_016113 NM_016113 NA Approved VRL, VRL-1, VRL1 uc002gpy.3 Q9Y5S1 OTTHUMG00000058989 ENST00000338560.7:c.50G>C chr17.hg19:g.16321032G>C ENSP00000342222:p.Gly17Ala NA A6NML2|A8K0Z0|Q9Y670 hg19 CCDS32576.1 0.02 8.70823 ATGxAGG COVERED 141 0.06456043956043957 0 0.0 5 0.013812154696132596 136 0.23776223776223776 0 0.0 G 12.12 1.842586 0.32606 0.002724 0.002326 ENSG00000187688 ENST00000338560 D 0.87650 -2.28 5.45 3.48 0.39840 . 1.778940 0.02574 N 0.098097 T 0.00109 0.0003 L 0.36672 1.1 0.38824 P 0.04430400000000001 B 0.11235 0.004 B 0.09377 0.004 T 0.16928 -1.0386 9 0.51188 T 0.08 -8.9443 9.5678 0.39409 0.164:0.0:0.836:0.0 rs3813768;rs52804576;rs3813768 17 Q9Y5S1 TRPV2_HUMAN A 17 ENSP00000342222:G17A ENSP00000342222:G17A G + 2 0 TRPV2 16261757 0.128000 0.22383 0.005000 0.12908 0.019000 0.09904 2.220000 0.42908 0.781000 0.33589 0.557000 0.71058 GGA NOVEL TRPV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130464.2 3 36.417743 KEEP 0 0 0 121 4240 GG 1 1 0 + 9 60 341 0 0 21.851641 224 60 8321 444 ENST00000338560.7 0.038627 1 TRPV2 51393 __UNKNOWN__ __UNKNOWN__ 17 16325968 16325968 __UNKNOWN__ Silent SNP A A G rs8121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16325968A>G ENST00000338560.7 + 4 789 c.390A>G c.(388-390)ggA>ggG p.G130G TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 130 Required for interaction with SLC50A1. {ECO:0000250}. NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810) axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075) p.G130G(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTAAGGACGGAGTCAATGCCT 0.572 NA G||| 1960 0.391374 0.6475 0.3818 5008 , , NA 18556 0.2321 NA 0.3877 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 2586,1820 532.3+/-373.4 765,1056,382 82 67 72 390 -5.9 0 17 dbSNP_52 72 3364,5236 641.2+/-399.7 648,2068,1584 no coding-synonymous TRPV2 NM_016113.4 1413,3124,1966 GG,GA,AA 39.1163,41.3073,45.7481 130/765 16325968 5950,7056 2203 4300 6503 SO:0001819 synonymous_variant AF129112 CCDS32576.1 17p11.2 2013-01-10 ENSG00000187688 ENSG00000187688 51393 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18082 protein-coding gene gene with protein product 606676 NA 10201375, 16382100 Standard NM_016113 NM_016113 NA Approved VRL, VRL-1, VRL1 uc002gpy.3 Q9Y5S1 OTTHUMG00000058989 ENST00000338560.7:c.390A>G chr17.hg19:g.16325968A>G NA A6NML2|A8K0Z0|Q9Y670 hg19 CCDS32576.1 0.02 4.698008 CGGxGTC COVERED 889 0.40705128205128205 301 0.6117886178861789 153 0.42265193370165743 148 0.25874125874125875 287 0.3786279683377309 G 0.717 -0.784796 0.02907 0.586927 0.391163 ENSG00000187688 ENST00000455666 . . . 5.24 -5.94 0.02247 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999999999865 . . . . . . T 0.46569 -0.9182 3 . . . -7.0661 0.4381 0.00482 0.2267:0.1978:0.2647:0.3108 rs8121;rs1129232;rs3186904;rs60740001;rs8121 . . . G 88 . . S + 1 0 TRPV2 16266693 0.000000 0.05858 0.029000 0.17559 0.089000 0.18198 -1.548000 0.02184 -1.326000 0.02266 -0.812000 0.03155 AGT NOVEL TRPV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130464.2 1 5.984891 KEEP 0 1 34 32 946 AA 0.999998 0.999997 0 + 5 60 180 0 0 11.317292 118 60 4057 182 ENST00000338560.7 0.04065 0.999999 TRPV2 51393 __UNKNOWN__ __UNKNOWN__ 17 16326005 16326005 __UNKNOWN__ Silent SNP A A C rs1129235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16326005A>C ENST00000338560.7 + 4 826 c.427A>C c.(427-429)Agg>Cgg p.R143R TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 143 Required for interaction with SLC50A1. {ECO:0000250}. NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810) axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GCAGATCGACAGGGACTCTGG 0.557 NA C||| 1861 0.371605 0.5938 0.366 5008 , , NA 20463 0.2302 NA 0.3867 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 C 2362,2044 561.1+/-380.6 643,1076,484 73 60 64 427 -2.9 0 17 dbSNP_86 64 3361,5239 636.2+/-399.1 648,2065,1587 no coding-synonymous TRPV2 NM_016113.4 1291,3141,2071 CC,CA,AA 39.0814,46.3913,44.0028 143/765 16326005 5723,7283 2203 4300 6503 SO:0001819 synonymous_variant AF129112 CCDS32576.1 17p11.2 2013-01-10 ENSG00000187688 ENSG00000187688 51393 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18082 protein-coding gene gene with protein product 606676 NA 10201375, 16382100 Standard NM_016113 NM_016113 NA Approved VRL, VRL-1, VRL1 uc002gpy.3 Q9Y5S1 OTTHUMG00000058989 ENST00000338560.7:c.427A>C chr17.hg19:g.16326005A>C NA A6NML2|A8K0Z0|Q9Y670 hg19 CCDS32576.1 0.02 5.722499 GACxGGG COVERED 867 0.39697802197802196 285 0.5792682926829268 148 0.4088397790055249 147 0.256993006993007 287 0.3786279683377309 C 8.991 0.977622 0.18812 0.536087 0.390814 ENSG00000187688 ENST00000455666 . . . 5.24 -2.87 0.05700 . . . . . T 0.00012 0.0000 . . . 0.40404 P 0.020321000000000033 . . . . . . T 0.37056 -0.9722 3 . . . -11.1604 14.0002 0.64429 0.6578:0.2566:0.0856:0.0 rs1129235;rs3186911;rs16959673;rs58276834;rs1129235 . . . P 100 . . Q + 2 0 TRPV2 16266730 0.001000 0.12720 0.005000 0.12908 0.899000 0.52679 -0.477000 0.06583 -0.859000 0.04105 -0.121000 0.15023 CAG NOVEL TRPV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130464.2 0 10.466495 KEEP 0 1 38 48 1498 AA 1 1 0 + 11 60 378 0 0 25.190596 165 60 6074 283 ENST00000338560.7 0.0625 1 TRPV2 51393 __UNKNOWN__ __UNKNOWN__ 17 16335191 16335191 __UNKNOWN__ Intron SNP C C A rs34786363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16335191C>A ENST00000583241.1 + 3 224 TRPV2_ENST00000577397.1_Intron|TRPV2_ENST00000338560.7_Intron Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810) axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GCCCCCTCCCCCTTCCCCACG 0.612 NA C||| 1430 0.285543 0.2769 0.3444 5008 , , NA 16337 0.2222 NA 0.3877 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 C 1325,3081 443.5+/-347.0 210,905,1088 93 84 87 -3.5 0 17 dbSNP_126 87 3425,5175 504.6+/-376.2 673,2079,1548 no intron TRPV2 NM_016113.4 883,2984,2636 AA,AC,CC 39.8256,30.0726,36.5216 16335191 4750,8256 2203 4300 6503 SO:0001627 intron_variant AF129112 CCDS32576.1 17p11.2 2013-01-10 ENSG00000187688 ENSG00000187688 51393 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18082 protein-coding gene gene with protein product 606676 NA 10201375, 16382100 Standard NM_016113 NM_016113 NA Approved VRL, VRL-1, VRL1 uc002gpy.3 Q9Y5S1 OTTHUMG00000058989 ENST00000583241.1:c.225-89C>A chr17.hg19:g.16335191C>A NA A6NML2|A8K0Z0|Q9Y670 hg19 0.02 9.699491 CCCxCTT COVERED NOVEL TRPV2-008 PUTATIVE NMD_likely_if_extended|basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000444957.1 4 8.665358 KEEP 0 4 117 70 2490 CC 1 1 0 + 13 60 420 0 0 25.213143 277 60 10180 460 ENST00000583241.1 0.044828 1 TRPV2 51393 __UNKNOWN__ __UNKNOWN__ 17 16336828 16336828 __UNKNOWN__ Intron SNP G G A rs7213055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16336828G>A ENST00000338560.7 + 13 2388 TRPV2_ENST00000577397.1_Intron NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810) axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CTTGCCTTGTGTGCCTTTGCC 0.552 NA G||| 1390 0.277556 0.2761 0.3343 5008 , , NA 23249 0.2222 NA 0.3579 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF129112 CCDS32576.1 17p11.2 2013-01-10 ENSG00000187688 ENSG00000187688 51393 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18082 protein-coding gene gene with protein product 606676 NA 10201375, 16382100 Standard NM_016113 NM_016113 NA Approved VRL, VRL-1, VRL1 uc002gpy.3 Q9Y5S1 OTTHUMG00000058989 ENST00000338560.7:c.1990-60G>A chr17.hg19:g.16336828G>A NA A6NML2|A8K0Z0|Q9Y670 hg19 CCDS32576.1 0.02 4.317298 TGTxTGC COVERED NOVEL TRPV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130464.2 4 8.427346 KEEP 0 0 0 28 995 GG 0.999997 0.999997 0 + 9 60 301 0 0 20.146947 123 60 4777 194 ENST00000338560.7 0.068182 1 TRPV2 51393 __UNKNOWN__ __UNKNOWN__ 17 16340316 16340316 __UNKNOWN__ 3'UTR SNP A A C rs7214366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16340316A>C ENST00000338560.7 + 0 2807 NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810) axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TTCACTAACTAACTCTTCTGG 0.488 NA A||| 1378 0.27516 0.267 0.3343 5008 , , NA 20470 0.2262 NA 0.3569 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF129112 CCDS32576.1 17p11.2 2013-01-10 ENSG00000187688 ENSG00000187688 51393 Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing 18082 protein-coding gene gene with protein product 606676 NA 10201375, 16382100 Standard NM_016113 NM_016113 NA Approved VRL, VRL-1, VRL1 uc002gpy.3 Q9Y5S1 OTTHUMG00000058989 ENST00000338560.7:c.*113A>C chr17.hg19:g.16340316A>C NA A6NML2|A8K0Z0|Q9Y670 hg19 CCDS32576.1 0.02 6.989021 ACTxACT COVERED NOVEL TRPV2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130464.2 0 14.13606 KEEP 0 0 0 47 1339 AA 1 1 0 + 10 60 360 0 0 24.314645 158 60 5571 250 ENST00000338560.7 0.059524 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 16340374 16340374 __UNKNOWN__ IGR SNP C C G rs75610630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16340374C>G NA NA TRPV2 (57 upstream) : C17orf76-AS1 (1761 downstream) NA NA NA CTGGCAATGTCTGCATGTCTC 0.512 NA C||| 259 0.0517173 0.0 0.0447 5008 , , NA 20690 0.1706 NA 0.008 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.16340374C>G NA hg19 0.02 1.900442 TGTxTGC COVERED NOVEL 0 0 3.310729 KEEP 0 0 0 11 387 CC 0.993072 0.98819 0 4 60 137 0 0 9.032017 63 60 2388 79 0.059701 0.995084 C17orf76-AS1 0 __UNKNOWN__ __UNKNOWN__ 17 16342813 16342813 __UNKNOWN__ RNA SNP T T C rs4072454|rs11540320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16342813T>C ENST00000475953.1 + 0 370 C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA NR_027667.1 NA NA NA GGAAGACTTATTCGACTGTCC 0.493 NA T||| 1370 0.273562 0.2625 0.3343 5008 , , NA 20584 0.2232 NA 0.3569 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 T 496,1256 78,340,458 153 144 147 -6.1 0 17 dbSNP_108 147 1486,2496 278,930,783 no intergenic 356,1270,1241 CC,CT,TT 37.3179,28.3105,34.5657 16342813 1982,3752 876 1991 2867 NA NA NA NA ENST00000475953.1: chr17.hg19:g.16342813T>C NA hg19 0.02 9.856253 TTAxTCG COVERED NOVEL C17orf76-AS1-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000130469.3 3 36.735598 KEEP 0 1 37 135 4212 TT 1 1 0 + 9 60 360 0 0 23.468371 241 60 8719 477 ENST00000475953.1 0.036 1 C17orf76-AS1 0 __UNKNOWN__ __UNKNOWN__ 17 16344600 16344600 __UNKNOWN__ RNA SNP T T C rs4617905|rs386795855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16344600T>C ENST00000475953.1 + 0 540 C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA NR_027667.1 NA NA NA GGTGAACCTATGGTTTTCTGA 0.378 NA C||| 2452 0.489617 0.531 0.5403 5008 , , NA 22314 0.3214 NA 0.6461 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 C 971,781 280,411,185 59 53 55 -11.3 0 17 dbSNP_111 55 2668,1314 901,866,224 yes near-gene-3 1181,1277,409 CC,CT,TT 32.9985,44.5776,36.5364 16344600 3639,2095 876 1991 2867 NA NA NA NA ENST00000475953.1: chr17.hg19:g.16344600T>C NA hg19 0.02 11.194682 CTAxGGT COVERED NOVEL C17orf76-AS1-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000130469.3 2 17.021157 KEEP 0 2 70 81 2557 TT 1 1 0 + 9 60 341 0 0 20.980969 281 60 10350 475 ENST00000475953.1 0.031034 1 C17orf76-AS1 0 __UNKNOWN__ __UNKNOWN__ 17 16344601 16344601 __UNKNOWN__ RNA SNP G G C rs386795855|rs4622550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16344601G>C ENST00000475953.1 + 0 540 C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA NR_027667.1 NA NA NA GTGAACCTATGGTTTTCTGAA 0.373 NA G||| 1402 0.279952 0.2867 0.3372 5008 , , NA 22379 0.2212 NA 0.3569 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 G 533,1219 92,349,435 59 52 54 5.9 1 17 dbSNP_111 54 1486,2496 278,930,783 no near-gene-3 370,1279,1218 CC,CG,GG 37.3179,30.4224,35.211 16344601 2019,3715 876 1991 2867 NA NA NA NA ENST00000475953.1: chr17.hg19:g.16344601G>C NA hg19 0.02 10.968877 TATxGTT COVERED NOVEL C17orf76-AS1-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000130469.3 2 17.127605 KEEP 0 2 69 81 2882 GG 1 1 0 + 9 60 330 0 0 19.843259 284 60 10841 480 ENST00000475953.1 0.030717 1 FAM211A 0 __UNKNOWN__ __UNKNOWN__ 17 16346757 16346757 __UNKNOWN__ 3'UTR SNP A A C rs1141283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16346757A>C ENST00000409083.3 - 0 1226 C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|FAM211A_ENST00000470794.1_3'UTR|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA NM_207387.3 NP_997270.2 NA NA lung(1) 1 TCCCCAGATGATATGGTTTGC 0.527 NA C||| 2776 0.554313 0.7663 0.5576 5008 , , NA 20612 0.3224 NA 0.6461 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000409083.3:c.*425T>G chr17.hg19:g.16346757A>C NA hg19 CCDS11178.2 0.02 7.619787 ATGxTAT COVERED NOVEL FAM211A-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000130461.2 0 8.157755 KEEP 0 1 34 39 1194 AA 1 1 0 - 13 60 495 0 0 36.387512 140 60 5115 234 ENST00000409083.3 0.084967 1 FAM211A 0 __UNKNOWN__ __UNKNOWN__ 17 16346932 16346932 __UNKNOWN__ 3'UTR SNP G G T rs4792745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:16346932G>T ENST00000409083.3 - 0 1051 C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|FAM211A_ENST00000470794.1_Silent_p.G335G|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA NM_207387.3 NP_997270.2 NA NA lung(1) 1 CAGTCTCCTTGCCCTCATGGT 0.652 NA G||| 1372 0.273962 0.2655 0.3343 5008 , , NA 18678 0.2212 NA 0.3569 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 G , 398,984 65,268,358 7 9 9 1005, 2.5 0 17 dbSNP_111 9 1183,1985 249,685,650 no coding-synonymous,utr-3 C17orf76 NM_001113567.1,NM_207387.2 , 314,953,1008 TT,TG,GG 37.3422,28.7988,34.7473 , 335/345, 16346932 1581,2969 691 1584 2275 SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000409083.3:c.*250C>A chr17.hg19:g.16346932G>T NA hg19 CCDS11178.2 0.02 6.568609 CTTxCCC COVERED NOVEL FAM211A-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000130461.2 2 12.675706 KEEP 0 1 34 54 1938 GG 1 1 0 - 10 60 352 0 0 23.760935 149 60 5634 267 ENST00000409083.3 0.062893 1 PLD6 201164 __UNKNOWN__ __UNKNOWN__ 17 17104714 17104714 __UNKNOWN__ 3'UTR SNP C C T rs14003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17104714C>T ENST00000321560.3 - 0 2154 NM_178836.3 NP_849158.2 Q8N2A8 PLD6_HUMAN phospholipase D family, member 6 NA NA DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803) endometrium(1)|lung(1) 2 CAGATGTCATCGGAGCTATCT 0.453 NA T||| 3172 0.633387 0.5234 0.6758 5008 , , NA 19392 0.7579 NA 0.659 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090899 CCDS11182.1 17p11.2 2008-08-14 ENSG00000179598 ENSG00000179598 201164 30447 protein-coding gene gene with protein product 614960 NA 12477932 Standard NM_178836 NM_178836 NA Approved uc002gqz.3 Q8N2A8 OTTHUMG00000059278 ENST00000321560.3:c.*1367G>A chr17.hg19:g.17104714C>T NA Q8N5Y1 hg19 CCDS11182.1 0.02 12.589864 CATxGGA COVERED NOVEL PLD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131600.2 0 19.831473 KEEP 0 2 69 90 2962 CC 1 1 0 - 10 60 334 0 0 19.50296 291 60 10348 463 ENST00000321560.3 0.033223 1 PLD6 201164 __UNKNOWN__ __UNKNOWN__ 17 17105682 17105682 __UNKNOWN__ 3'UTR SNP G G A rs4985749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17105682G>A ENST00000321560.3 - 0 1186 NM_178836.3 NP_849158.2 Q8N2A8 PLD6_HUMAN phospholipase D family, member 6 NA NA DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741) cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803) endometrium(1)|lung(1) 2 CATGGAGAGAGGGATGAAATC 0.562 NA G||| 2517 0.502596 0.0998 0.6499 5008 , , NA 17996 0.756 NA 0.671 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK090899 CCDS11182.1 17p11.2 2008-08-14 ENSG00000179598 ENSG00000179598 201164 30447 protein-coding gene gene with protein product 614960 NA 12477932 Standard NM_178836 NM_178836 NA Approved uc002gqz.3 Q8N2A8 OTTHUMG00000059278 ENST00000321560.3:c.*399C>T chr17.hg19:g.17105682G>A NA Q8N5Y1 hg19 CCDS11182.1 0.02 8.857561 AGAxGGA COVERED NOVEL PLD6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131600.2 1 19.570369 KEEP 0 3 82 94 3313 GG 1 1 0 - 21 60 713 0 0 50.044353 229 60 8424 417 ENST00000321560.3 0.084 1 FLCN 201163 __UNKNOWN__ __UNKNOWN__ 17 17122327 17122327 __UNKNOWN__ Intron SNP G G A rs8065832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17122327G>A ENST00000285071.4 - 9 1517 RP11-45M22.4_ENST00000427497.3_Intron NM_144997.5 NP_659434.2 Q8NFG4 FLCN_HUMAN folliculin NA NA cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929) cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886) protein complex binding (GO:0032403) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGCCCCTGCCGCCTACCTGCC 0.662 NA Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dubé syndrome G||| 2519 0.502995 0.3714 0.536 5008 , , NA 14623 0.6974 NA 0.495 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 GRCh37 CS033516 FLCN S rs8065832 G 1625,2781 477.0+/-357.8 303,1019,881 31 35 34 -4.8 0 17 dbSNP_116 34 4216,4384 544.6+/-384.6 1021,2174,1105 no intron FLCN NM_144997.5 1324,3193,1986 AA,AG,GG 49.0233,36.8815,44.91 17122327 5841,7165 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis AF517523 CCDS32579.1, CCDS32580.1 17p11.2 2014-09-17 ENSG00000154803 ENSG00000154803 201163 27310 protein-coding gene gene with protein product 607273 NA Standard NM_144606 NM_144997 NA Approved BHD, MGC17998, MGC23445 uc002gra.4 Q8NFG4 OTTHUMG00000059275 ENST00000285071.4:c.1062+5C>T chr17.hg19:g.17122327G>A NA A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4 hg19 CCDS32579.1 0.02 1.824882 GCCxCCT COVERED NOVEL FLCN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131577.1 1 4.812761 KEEP 0 0 0 16 491 GG 0.997832 0.9976 0 - 4 60 142 0 0 9.107197 81 60 2594 108 ENST00000285071.4 0.047059 0.999768 COPS3 8533 __UNKNOWN__ __UNKNOWN__ 17 17165136 17165136 __UNKNOWN__ Intron SNP C C A rs1736210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17165136C>A ENST00000439936.2 - 7 834 COPS3_ENST00000539941.2_Intron|COPS3_ENST00000268717.5_Intron Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 NA NA cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737) NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GAATGTGTAGCAGACATTCAA 0.358 NA C||| 2019 0.403155 0.0908 0.5173 5008 , , NA 17342 0.6558 NA 0.5089 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF031647 CCDS11183.1, CCDS56022.1 17p11.2 2013-03-14 2013-03-14 ENSG00000141030 ENSG00000141030 8533 2239 protein-coding gene gene with protein product 604665 COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3, COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) NA 9535219, 10191102 Standard NM_003653 NA Approved SGN3, CSN3 uc002grd.3 Q9UNS2 OTTHUMG00000059281 ENST00000439936.2:c.702+143G>T chr17.hg19:g.17165136C>A NA B2R683|B4DY81|O43191|Q7LDR6 hg19 0.02 1.555418 TAGxAGA COVERED NOVEL COPS3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000131604.3 1 4.815793 KEEP 0 0 0 16 574 CC 0.997832 0.997751 0 - 4 60 140 0 0 8.728892 90 60 3386 127 ENST00000439936.2 0.042553 0.999919 COPS3 8533 __UNKNOWN__ __UNKNOWN__ 17 17168164 17168164 __UNKNOWN__ Silent SNP G G A rs3182911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17168164G>A ENST00000439936.2 - 6 644 c.513C>T c.(511-513)atC>atT p.I171I COPS3_ENST00000539941.2_Silent_p.I171I|COPS3_ENST00000268717.5_Silent_p.I191I Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 191 NA cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737) NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GCCCAGTATAGATCATCCCTC 0.358 NA G||| 2435 0.486222 0.3215 0.5317 5008 , , NA 18745 0.6558 NA 0.5119 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 G , 1436,2970 466.0+/-354.4 239,958,1006 93 89 90 513,573 3.8 1 17 dbSNP_105 90 4292,4308 575.5+/-390.2 1062,2168,1070 no coding-synonymous,coding-synonymous COPS3 NM_001199125.1,NM_003653.3 , 1301,3126,2076 AA,AG,GG 49.907,32.5919,44.0412 , 171/404,191/424 17168164 5728,7278 2203 4300 6503 SO:0001819 synonymous_variant AF031647 CCDS11183.1, CCDS56022.1 17p11.2 2013-03-14 2013-03-14 ENSG00000141030 ENSG00000141030 8533 2239 protein-coding gene gene with protein product 604665 COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3, COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) NA 9535219, 10191102 Standard NM_003653 NA Approved SGN3, CSN3 uc002grd.3 Q9UNS2 OTTHUMG00000059281 ENST00000439936.2:c.513C>T chr17.hg19:g.17168164G>A NA B2R683|B4DY81|O43191|Q7LDR6 hg19 0.02 3.99165 ATAxATC COVERED NOVEL COPS3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000131604.3 1 9.02943 KEEP 0 0 0 30 1061 GG 0.999997 0.999997 0 - 8 60 289 0 0 19.533822 127 60 4764 193 ENST00000439936.2 0.059259 1 COPS3 8533 __UNKNOWN__ __UNKNOWN__ 17 17179481 17179481 __UNKNOWN__ Intron SNP G G A rs4985761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17179481G>A ENST00000439936.2 - 2 127 COPS3_ENST00000539941.2_Intron|COPS3_ENST00000268717.5_Intron Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 NA NA cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737) NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 CATTTGCCCTGGAAAACAGGA 0.453 NA G||| 2006 0.400559 0.0832 0.5173 5008 , , NA 17662 0.6548 NA 0.5089 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 G , 645,3761 274.0+/-271.7 60,525,1618 125 94 104 , 4 1 17 dbSNP_111 104 4281,4319 576.1+/-390.3 1056,2169,1075 no intron,intron COPS3 NM_001199125.1,NM_003653.3 , 1116,2694,2693 AA,AG,GG 49.7791,14.6391,37.8748 , , 17179481 4926,8080 2203 4300 6503 SO:0001627 intron_variant AF031647 CCDS11183.1, CCDS56022.1 17p11.2 2013-03-14 2013-03-14 ENSG00000141030 ENSG00000141030 8533 2239 protein-coding gene gene with protein product 604665 COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3, COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) NA 9535219, 10191102 Standard NM_003653 NA Approved SGN3, CSN3 uc002grd.3 Q9UNS2 OTTHUMG00000059281 ENST00000439936.2:c.5-3C>T chr17.hg19:g.17179481G>A NA B2R683|B4DY81|O43191|Q7LDR6 hg19 0.02 8.331614 CCTxGAA COVERED NOVEL COPS3-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000131604.3 0 14.446717 KEEP 0 0 0 48 1663 GG 1 1 0 - 10 60 363 0 0 23.453289 208 60 7743 345 ENST00000439936.2 0.045872 1 ATPAF2 91647 __UNKNOWN__ __UNKNOWN__ 17 17921733 17921733 __UNKNOWN__ 3'UTR SNP A A G rs117739515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:17921733A>G ENST00000474627.3 - 0 1154 ATPAF2_ENST00000585101.1_Intron NM_145691.3 NP_663729.1 Q8N5M1 ATPF2_HUMAN ATP synthase mitochondrial F1 complex assembly factor 2 NA NA proton-transporting ATP synthase complex assembly (GO:0043461) mitochondrion (GO:0005739)|nuclear speck (GO:0016607) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 8 all_neural(463;0.228) CTCGGGGGGAATCTCAGGGTG 0.637 NA a||| 60 0.0119808 0.0 0.0 5008 , , NA 16969 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF052185 CCDS32585.1 17p11.2 2012-10-12 ENSG00000171953 ENSG00000171953 91647 Mitochondrial respiratory chain complex assembly factors 18802 protein-coding gene gene with protein product 608918 NA 11410595, 11997338 Standard NM_145691 NM_145691 NA Approved Atp12p, ATP12, LP3663, MGC29736 uc002gse.1 Q8N5M1 OTTHUMG00000059354 ENST00000474627.3:c.*130T>C chr17.hg19:g.17921733A>G NA A6NDE5|A8K2J2|Q6XYC7 hg19 CCDS32585.1 0.02 4.552724 GGAxTCT COVERED NOVEL ATPAF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131934.3 0 8.698223 KEEP 0 0 0 29 837 AA 0.999997 0.999997 0 - 6 60 226 0 0 14.949149 122 60 4235 182 ENST00000474627.3 0.046875 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18041507 18041507 __UNKNOWN__ Silent SNP C C T rs2280777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18041507C>T ENST00000205890.5 + 17 5292 c.4954C>T c.(4954-4956)Ctg>Ttg p.L1652L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1652 Myosin motor. NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTCATCTCACTGAAGCCTTA 0.562 NA C||| 2397 0.478634 0.4047 0.5735 5008 , , NA 15838 0.5933 NA 0.5209 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C 1901,2475 491.5+/-362.1 428,1045,715 109 111 111 4954 2.5 0.7 17 dbSNP_100 111 4595,3985 580.7+/-391.1 1247,2101,942 yes coding-synonymous MYO15A NM_016239.3 1675,3146,1657 TT,TC,CC 46.4452,43.4415,49.8611 1652/3531 18041507 6496,6460 2188 4290 6478 SO:0001819 synonymous_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.4954C>T chr17.hg19:g.18041507C>T NA B4DFC7 hg19 CCDS42271.1 0.02 13.17036 TCAxTGA COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 1 17.693111 KEEP 0 1 32 70 2515 CC 1 1 0 + 14 60 509 0 0 32.301588 323 60 12153 520 ENST00000205890.5 0.041543 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18042976 18042976 __UNKNOWN__ Intron SNP C C A rs854782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18042976C>A ENST00000205890.5 + 19 5549 MYO15A_ENST00000412324.1_Intron NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) ATGTCCCCACCCCCACACCCA 0.657 NA C||| 2251 0.449481 0.3177 0.5648 5008 , , NA 14868 0.5843 NA 0.5129 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 C 1524,2638 296,932,853 25 29 28 -0.4 0 17 dbSNP_86 28 4404,3980 1177,2050,965 no intron MYO15A NM_016239.3 1473,2982,1818 AA,AC,CC 47.4714,36.617,47.2501 18042976 5928,6618 2081 4192 6273 SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.5211+51C>A chr17.hg19:g.18042976C>A NA B4DFC7 hg19 CCDS42271.1 0.02 1.977143 CACxCCC COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 0 7.853934 KEEP 0 1 5 28 982 CC 0.999997 0.999314 0 + 5 60 176 0 0 11.838132 76 60 2790 121 ENST00000205890.5 0.061728 0.999317 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18043766 18043766 __UNKNOWN__ Intron SNP C C G rs854780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18043766C>G ENST00000205890.5 + 20 5549 MYO15A_ENST00000412324.1_Intron NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTGCTCTCTCTTCCTCCTCA 0.592 NA OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 3407 0.680312 0.8026 0.7651 5008 , , NA 18008 0.5972 NA 0.7256 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.5212-65C>G chr17.hg19:g.18043766C>G 722 B4DFC7 hg19 CCDS42271.1 0.02 8.945798 TCTxTTC COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 1 18.931851 KEEP 0 2 72 88 3009 CC 1 1 0 + 9 60 334 0 0 21.035318 231 60 8635 422 ENST00000205890.5 0.0375 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18043817 18043817 __UNKNOWN__ Intron SNP C C T rs2072652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18043817C>T ENST00000205890.5 + 20 5549 MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TTCCCTGCCCCGACCCCTGCC 0.622 NA OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1186 0.236821 0.1445 0.2709 5008 , , NA 18513 0.5149 NA 0.1213 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 C 554,3428 42,470,1479 94 109 104 -5.9 0 17 dbSNP_96 104 958,7330 58,842,3244 no intron MYO15A NM_016239.3 100,1312,4723 TT,TC,CC 11.5589,13.9126,12.3227 18043817 1512,10758 1991 4144 6135 SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.5212-14C>T chr17.hg19:g.18043817C>T 722 B4DFC7 hg19 CCDS42271.1 0.02 13.406784 CCCxGAC COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 2 37.90149 KEEP 0 0 0 126 4318 CC 1 1 0 + 16 60 563 0 0 36.144522 316 60 11003 598 ENST00000205890.5 0.048193 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18045098 18045098 __UNKNOWN__ Intron SNP G G A rs2072653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18045098G>A ENST00000205890.5 + 23 5987 MYO15A_ENST00000412324.1_Intron NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGTCCTGCCCGACAGTCAGCC 0.562 NA OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1185 0.236621 0.1452 0.2709 5008 , , NA 19894 0.5129 NA 0.1213 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 G 574,3568 41,492,1538 78 84 82 0.5 0 17 dbSNP_96 82 979,7423 56,867,3278 no intron MYO15A NM_016239.3 97,1359,4816 AA,AG,GG 11.652,13.858,12.3804 18045098 1553,10991 2071 4201 6272 SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.5649+14G>A chr17.hg19:g.18045098G>A 722 B4DFC7 hg19 CCDS42271.1 0.02 12.680575 CCCxACA COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 0 29.626842 KEEP 0 1 21 106 3609 GG 1 1 0 + 15 60 552 0 0 36.460496 287 60 10127 530 ENST00000205890.5 0.049669 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18046058 18046058 __UNKNOWN__ Intron SNP A A C rs854778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18046058A>C ENST00000205890.5 + 25 6163 NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTCCCCACTACCCCAACCCA 0.602 NA C||| 3427 0.684305 0.8101 0.7651 5008 , , NA 18088 0.6012 NA 0.7276 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 C 3190,804 1278,634,85 30 33 32 1.9 0 17 dbSNP_86 32 6298,2046 2377,1544,251 no intron MYO15A NM_016239.3 3655,2178,336 CC,CA,AA 24.5206,20.1302,23.0994 18046058 9488,2850 1997 4172 6169 SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.5826-12A>C chr17.hg19:g.18046058A>C NA B4DFC7 hg19 CCDS42271.1 0.02 4.752076 ACTxCCC COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 0 9.85925 KEEP 0 4 135 80 2446 AA 1 1 0 + 9 60 334 0 0 23.555618 119 60 4120 281 ENST00000205890.5 0.070312 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18047189 18047189 __UNKNOWN__ Missense_Mutation SNP G G A rs2272571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18047189G>A ENST00000205890.5 + 28 6390 c.6052G>A c.(6052-6054)Ggg>Agg p.G2018R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2018 Neck or regulatory domain. NA G -> R (in dbSNP:rs2272571). inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CACAGGCCTCGGGCTGGCCCA 0.657 NA G||| 1193 0.238219 0.1452 0.2695 5008 , , NA 17612 0.5179 NA 0.1213 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 G ARG/GLY 566,3560 41,484,1538 21 24 23 6052 2.7 0.6 17 dbSNP_100 23 967,7431 54,859,3286 yes missense MYO15A NM_016239.3 125 95,1343,4824 AA,AG,GG 11.5146,13.7179,12.2405 benign 2018/3531 18047189 1533,10991 2063 4199 6262 SO:0001583 missense AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.6052G>A chr17.hg19:g.18047189G>A ENSP00000205890:p.Gly2018Arg NA B4DFC7 hg19 CCDS42271.1 0.02 11.279707 CTCxGGC COVERED 546 0.25 72 0.14634146341463414 75 0.20718232044198895 303 0.5297202797202797 96 0.1266490765171504 G 0.031 -1.333383 0.01298 0.137179 0.115146 ENSG00000091536 ENST00000205890 D 0.86769 -2.17 4.98 2.73 0.32206 . . . . . T 0.00012 0.0000 N 0.00210 -1.845 0.21950 P 0.999455902 B 0.02656 0.0 B 0.01281 0.0 T 0.38887 -0.9640 8 0.02654 T 1 . 7.9865 0.30216 0.8356:0.0:0.1644:0.0 rs2272571;rs60920238;rs2272571 2018 Q9UKN7 MYO15_HUMAN R 2018 ENSP00000205890:G2018R ENSP00000205890:G2018R G + 1 0 MYO15A 17987914 0.046000 0.20272 0.650000 0.29550 0.075000 0.17131 1.152000 0.31663 0.341000 0.23771 -0.487000 0.04747 GGG NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 0 26.784409 KEEP 0 0 0 89 3048 GG 1 1 0 + 8 60 307 0 0 18.901018 260 60 9098 454 ENST00000205890.5 0.029851 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18054692 18054692 __UNKNOWN__ Intron SNP G G A rs2056841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18054692G>A ENST00000205890.5 + 40 7992 NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TGTTCCCACCGCGCCCCTTGC 0.607 NA A||| 1200 0.239617 0.1475 0.2695 5008 , , NA 16081 0.5208 NA 0.1243 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 A 580,3568 42,496,1536 61 67 65 -10.2 0 17 dbSNP_94 65 1004,7374 57,890,3242 no intron MYO15A NM_016239.3 99,1386,4778 AA,AG,GG 11.9838,13.9826,12.6457 18054692 1584,10942 2074 4189 6263 SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000205890.5:c.7655-17G>A chr17.hg19:g.18054692G>A NA B4DFC7 hg19 CCDS42271.1 0.02 15.36663 ACCxCGC COVERED NOVEL MYO15A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132048.1 2 29.787225 KEEP 0 0 0 99 3334 GG 1 1 0 + 15 60 509 0 0 29.707554 423 60 14642 618 ENST00000205890.5 0.034247 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18057272 18057272 __UNKNOWN__ Intron SNP A A G rs712271 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18057272A>G ENST00000418233.3 + 1 502 MYO15A_ENST00000205890.5_Intron Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCTGAAGCGAGCAGAGGAGG 0.642 NA G||| 3415 0.681909 0.8041 0.7651 5008 , , NA 9365 0.6022 NA 0.7256 False NA ,,, NA NA NA 2504 0.4949 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000418233.3:c.-121+62A>G chr17.hg19:g.18057272A>G NA B4DFC7 hg19 0.02 4.244269 GCGxGCA COVERED NOVEL MYO15A-009 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446125.1 1 7.847348 KEEP 0 1 34 38 1094 AA 1 1 0 + 5 60 180 0 0 11.204315 124 60 4485 187 ENST00000418233.3 0.03876 1 MYO15A 51168 __UNKNOWN__ __UNKNOWN__ 17 18059454 18059454 __UNKNOWN__ Intron SNP G G A rs2242595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18059454G>A ENST00000418233.3 + 6 873 MYO15A_ENST00000205890.5_Intron|MYO15A_ENST00000585180.1_Intron Q9UKN7 MYO15_HUMAN myosin XVA NA NA inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420) ATP binding (GO:0005524)|motor activity (GO:0003774) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGCACAATAGGTGGAAGGAGG 0.587 NA G||| 1205 0.240615 0.149 0.2709 5008 , , NA 19963 0.5228 NA 0.1243 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF144094 CCDS42271.1 17p11.2 2011-09-27 ENSG00000091536 ENSG00000091536 51168 Myosins / Myosin superfamily : Class XV 7594 protein-coding gene gene with protein product 602666 DFNB3, MYO15 NA 9603736 Standard NM_016239 NM_016239 NA Approved uc021trl.1 Q9UKN7 OTTHUMG00000059390 ENST00000418233.3:c.252-55G>A chr17.hg19:g.18059454G>A NA B4DFC7 hg19 0.02 1.973917 TAGxTGG COVERED NOVEL MYO15A-009 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446125.1 0 4.513899 KEEP 0 0 0 15 492 GG 0.99649 0.993226 0 + 7 60 237 0 0 17.167437 63 60 2239 90 ENST00000418233.3 0.1 0.996724 ALKBH5 54890 __UNKNOWN__ __UNKNOWN__ 17 18087299 18087299 __UNKNOWN__ Intron SNP C C T rs1064629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18087299C>T ENST00000541285.1 + 1 188 RP11-258F1.1_ENST00000577847.1_RNA|RP11-258F1.1_ENST00000583062.1_RNA Q6P6C2 ALKB5_HUMAN AlkB family member 5, RNA demethylase NA NA cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283) nuclear speck (GO:0016607)|nucleus (GO:0005634) metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) GAGGCGCTGCCGGCGCCCCTG 0.731 NA C||| 1177 0.235024 0.1029 0.2695 5008 , , NA 8501 0.5417 NA 0.1223 False NA ,,, NA NA NA 2504 0.1892 NA NA NA Ovarian(166;154 1953 40235 46283 46309) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000315 CCDS42272.1 17p11.2 2014-07-23 2014-07-23 2006-02-09 ENSG00000091542 ENSG00000091542 54890 1.14.11.- Alkylation repair homologs 25996 protein-coding gene gene with protein product 613303 oxoglutarate and iron-dependent oxygenase domain containing, alkB, alkylation repair homolog 5 (E. coli) OFOXD1 NA 11997338, 24778178 Standard NM_017758 NM_017758 NA Approved FLJ20308 uc010cpw.3 Q6P6C2 OTTHUMG00000059397 ENST00000541285.1:c.-254+720C>T chr17.hg19:g.18087299C>T NA B4DVJ4|D3DXC6|Q9NXD6 hg19 0.02 6.929595 TGCxGGC COVERED 566 0.2591575091575092 66 0.13414634146341464 75 0.20718232044198895 324 0.5664335664335665 101 0.13324538258575197 C 2.124 -0.400836 0.04865 . . ENSG00000091542 ENST00000500385 . . . 3.81 0.703 0.18116 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999999792402 . . . . . . T 0.43605 -0.9381 4 0.87932 D 0 . 2.096 0.03668 0.1589:0.5018:0.1548:0.1844 rs1064629;rs3205605;rs3752017 . . . W 5 . ENSP00000437638:R5W R + 1 2 ALKBH5 18028024 0.000000 0.05858 0.989000 0.46669 0.071000 0.16799 -1.221000 0.02968 0.202000 0.20498 0.557000 0.71058 CGG NOVEL ALKBH5-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000400296.2 6 61.058538 KEEP 0 0 0 203 7031 CC 1 1 0 + 8 60 300 0 0 20.210079 144 60 5099 535 ENST00000541285.1 0.052632 1 LLGL1 3996 __UNKNOWN__ __UNKNOWN__ 17 18144720 18144720 __UNKNOWN__ Intron SNP C C T rs2245737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18144720C>T ENST00000316843.4 + 18 2598 NM_004140.3 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) NA NA axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461) cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588) protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCCCTGGGGACGAGGACAGGG 0.642 NA T||| 2727 0.544529 0.7398 0.5893 5008 , , NA 19155 0.4067 NA 0.6054 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 T 3181,1225 1134,913,156 24 20 21 -9.2 0 17 dbSNP_100 21 5281,3317 1634,2013,652 no intron LLGL1 NM_004140.3 2768,2926,808 TT,TC,CC 38.5787,27.803,34.9277 18144720 8462,4542 2203 4299 6502 SO:0001627 intron_variant CCDS32586.1 17p11.2 2013-01-10 2001-11-28 ENSG00000131899 ENSG00000131899 3996 WD repeat domain containing 6628 protein-coding gene gene with protein product 600966 lethal giant larvae (Drosophila) homolog 1 DLG4, LLGL, HUGL, HUGL-1 NA 7542763, 8565641 Standard XM_005256643 NA Approved uc002gsp.3 Q15334 OTTHUMG00000059396 ENST00000316843.4:c.2503-45C>T chr17.hg19:g.18144720C>T NA A7MBM7|O00188|Q58F11|Q86UK6 hg19 CCDS32586.1 0.02 10.524808 GGAxGAG COVERED NOVEL LLGL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132067.3 0 14.145025 KEEP 0 0 0 47 1596 CC 1 1 0 + 12 60 398 0 0 24.068454 275 60 9675 373 ENST00000316843.4 0.041812 1 FLII 2314 __UNKNOWN__ __UNKNOWN__ 17 18149854 18149854 __UNKNOWN__ Intron SNP A A G rs2856289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18149854A>G ENST00000327031.4 - 23 3277 FLII_ENST00000379450.4_Intron|FLII_ENST00000579294.1_Intron|FLII_ENST00000545457.2_Intron|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) NA NA multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634) actin binding (GO:0003779) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GCTGGGTCTGAGCCCCACCAC 0.662 NA G||| 3636 0.726038 0.9244 0.7752 5008 , , NA 16752 0.629 NA 0.7326 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U01184 CCDS11192.1, CCDS58521.1, CCDS58522.1 17p11.2 2008-07-18 2001-11-28 ENSG00000177731 ENSG00000177731 2314 3750 protein-coding gene gene with protein product 600362 flightless I (Drosophila) homolog NA 7825574 Standard NM_002018 NM_002018 NA Approved FLI, FLIL, Fli1, MGC39265 uc002gsr.2 Q13045 OTTHUMG00000059389 ENST00000327031.4:c.3051+53T>C chr17.hg19:g.18149854A>G NA B4DIL0|F5H407|J3QLG3 hg19 CCDS11192.1 0.02 14.361141 CTGxGCC COVERED NOVEL FLII-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132032.2 1 29.523623 KEEP 0 4 131 144 4496 AA 1 1 0 - 17 60 636 0 0 43.289474 286 60 10257 549 ENST00000327031.4 0.056106 1 FLII 2314 __UNKNOWN__ __UNKNOWN__ 17 18154510 18154510 __UNKNOWN__ Intron SNP T T C rs2071242 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18154510T>C ENST00000327031.4 - 13 1822 FLII_ENST00000379450.4_Intron|FLII_ENST00000579294.1_Intron|FLII_ENST00000545457.2_Intron|FLII_ENST00000578558.1_Intron NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) NA NA multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634) actin binding (GO:0003779) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) AACTCTGGAGTTGGGGACTGA 0.607 NA T||| 1079 0.215455 0.1483 0.2334 5008 , , NA 16310 0.3234 NA 0.2445 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U01184 CCDS11192.1, CCDS58521.1, CCDS58522.1 17p11.2 2008-07-18 2001-11-28 ENSG00000177731 ENSG00000177731 2314 3750 protein-coding gene gene with protein product 600362 flightless I (Drosophila) homolog NA 7825574 Standard NM_002018 NM_002018 NA Approved FLI, FLIL, Fli1, MGC39265 uc002gsr.2 Q13045 OTTHUMG00000059389 ENST00000327031.4:c.1596+68A>G chr17.hg19:g.18154510T>C NA B4DIL0|F5H407|J3QLG3 hg19 CCDS11192.1 0.02 3.994906 GAGxTGG COVERED NOVEL FLII-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132032.2 3 6.014556 KEEP 0 0 0 20 586 TT 0.999863 0.999863 0 - 5 60 182 0 0 11.130519 141 60 4942 178 ENST00000327031.4 0.034247 1 TOP3A 7156 __UNKNOWN__ __UNKNOWN__ 17 18194011 18194011 __UNKNOWN__ Intron SNP C C A rs3817992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18194011C>A ENST00000321105.5 - 13 1682 TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Intron NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha NA NA DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126) chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605) DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CTACAGGGAGCGGCAGGTGCA 0.542 NA C||| 1071 0.213858 0.146 0.2334 5008 , , NA 20669 0.3185 NA 0.2435 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 C 681,3725 286.9+/-279.0 64,553,1586 65 48 54 1.8 0.1 17 dbSNP_107 54 2182,6418 369.2+/-335.4 281,1620,2399 no intron TOP3A NM_004618.3 345,2173,3985 AA,AC,CC 25.3721,15.4562,22.0129 18194011 2863,10143 2203 4300 6503 SO:0001627 intron_variant U43431 CCDS11194.1 17p12-p11.2 2014-02-18 ENSG00000177302 ENSG00000177302 7156 11992 protein-coding gene gene with protein product zinc finger, GRF-type containing 7 601243 TOP3 NA 9450867 Standard NM_004618 NA Approved ZGRF7 uc002gsx.1 Q13472 OTTHUMG00000059391 ENST00000321105.5:c.1468-11G>T chr17.hg19:g.18194011C>A NA A8KA61|B4DK80|D3DXC7|Q13473 hg19 CCDS11194.1 0.02 4.871427 GAGxGGC COVERED NOVEL TOP3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132052.2 1 7.523459 KEEP 0 0 0 25 839 CC 0.999931 0.999908 0 - 9 60 324 0 0 23.443493 94 60 3242 159 ENST00000321105.5 0.087379 0.999978 TOP3A 7156 __UNKNOWN__ __UNKNOWN__ 17 18202996 18202996 __UNKNOWN__ Intron SNP C C T rs2294913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18202996C>T ENST00000321105.5 - 9 1130 TOP3A_ENST00000542570.1_Intron NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha NA NA DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126) chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605) DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 AGTGCATCATCTCCATCCTTC 0.502 NA C||| 1070 0.213658 0.1452 0.2334 5008 , , NA 21933 0.3185 NA 0.2435 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 C 683,3723 287.8+/-279.5 64,555,1584 129 111 117 1.1 0 17 dbSNP_100 117 2184,6416 369.4+/-335.5 282,1620,2398 no intron TOP3A NM_004618.3 346,2175,3982 TT,TC,CC 25.3953,15.5016,22.0437 18202996 2867,10139 2203 4300 6503 SO:0001627 intron_variant U43431 CCDS11194.1 17p12-p11.2 2014-02-18 ENSG00000177302 ENSG00000177302 7156 11992 protein-coding gene gene with protein product zinc finger, GRF-type containing 7 601243 TOP3 NA 9450867 Standard NM_004618 NA Approved ZGRF7 uc002gsx.1 Q13472 OTTHUMG00000059391 ENST00000321105.5:c.916-49G>A chr17.hg19:g.18202996C>T NA A8KA61|B4DK80|D3DXC7|Q13473 hg19 CCDS11194.1 0.02 10.006394 CATxTCC COVERED NOVEL TOP3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132052.2 0 23.777464 KEEP 0 0 0 79 2818 CC 1 1 0 - 8 60 286 0 0 16.54122 281 60 10651 449 ENST00000321105.5 0.027682 1 SMCR8 140775 __UNKNOWN__ __UNKNOWN__ 17 18218804 18218804 __UNKNOWN__ 5'UTR SNP T T C rs1563634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18218804T>C ENST00000406438.3 + 0 181 NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 NA NA nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TGCAGGTGATTTCGCAGCAGG 0.642 NA C||| 3388 0.676518 0.9047 0.6916 5008 , , NA 15147 0.5407 NA 0.662 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF467440 CCDS11195.2 17p11.2 2014-06-12 ENSG00000176994 ENSG00000176994 140775 17921 protein-coding gene gene with protein product NA 11997338, 23248642 Standard NM_144775 NM_144775 NA Approved FLJ34716 uc002gsy.4 Q8TEV9 OTTHUMG00000059394 ENST00000406438.3:c.-300T>C chr17.hg19:g.18218804T>C NA A5PKZ5|Q3ZCN0|Q6PJL3 hg19 CCDS11195.2 0.02 12.089636 GATxTCG COVERED NOVEL SMCR8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132065.2 1 48.228035 KEEP 0 3 102 196 5851 TT 1 1 0 + 9 60 354 0 0 22.446664 269 60 9605 615 ENST00000406438.3 0.032374 1 SMCR8 140775 __UNKNOWN__ __UNKNOWN__ 17 18219835 18219835 __UNKNOWN__ Silent SNP T T C rs3829956 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18219835T>C ENST00000406438.3 + 1 1212 c.732T>C c.(730-732)atT>atC p.I244I NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 244 NA nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 AGTCCATCATTGAACATCAAG 0.488 NA T||| 1076 0.214856 0.1452 0.2421 5008 , , NA 22242 0.3185 NA 0.2435 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 T 684,3722 288.4+/-279.8 65,554,1584 69 56 60 732 -0.1 1 17 dbSNP_107 60 2196,6404 371.9+/-336.4 284,1628,2388 no coding-synonymous SMCR8 NM_144775.2 349,2182,3972 CC,CT,TT 25.5349,15.5243,22.1436 244/938 18219835 2880,10126 2203 4300 6503 SO:0001819 synonymous_variant AF467440 CCDS11195.2 17p11.2 2014-06-12 ENSG00000176994 ENSG00000176994 140775 17921 protein-coding gene gene with protein product NA 11997338, 23248642 Standard NM_144775 NM_144775 NA Approved FLJ34716 uc002gsy.4 Q8TEV9 OTTHUMG00000059394 ENST00000406438.3:c.732T>C chr17.hg19:g.18219835T>C NA A5PKZ5|Q3ZCN0|Q6PJL3 hg19 CCDS11195.2 0.02 8.193851 CATxGAA COVERED NOVEL SMCR8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132065.2 1 43.321177 KEEP 0 0 0 144 4411 TT 1 1 0 + 13 60 446 0 0 28.721286 233 60 8654 485 ENST00000406438.3 0.052846 1 SMCR8 140775 __UNKNOWN__ __UNKNOWN__ 17 18220770 18220770 __UNKNOWN__ Missense_Mutation SNP G G A rs1563632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18220770G>A ENST00000406438.3 + 1 2147 c.1667G>A c.(1666-1668)cGc>cAc p.R556H NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 556 NA R -> H (in dbSNP:rs1563632). {ECO:0000269|PubMed:15489334}. nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 GGAGCCATCCGCTTCCAGGCA 0.507 NA A||| 3384 0.675719 0.9039 0.6916 5008 , , NA 22204 0.5407 NA 0.659 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 A HIS/ARG 3725,681 286.0+/-278.5 1569,587,47 118 124 122 1667 3.8 1 17 dbSNP_88 122 5804,2796 443.8+/-360.5 1955,1894,451 yes missense SMCR8 NM_144775.2 29 3524,2481,498 AA,AG,GG 32.5116,15.4562,26.7338 benign 556/938 18220770 9529,3477 2203 4300 6503 SO:0001583 missense AF467440 CCDS11195.2 17p11.2 2014-06-12 ENSG00000176994 ENSG00000176994 140775 17921 protein-coding gene gene with protein product NA 11997338, 23248642 Standard NM_144775 NM_144775 NA Approved FLJ34716 uc002gsy.4 Q8TEV9 OTTHUMG00000059394 ENST00000406438.3:c.1667G>A chr17.hg19:g.18220770G>A ENSP00000385025:p.Arg556His NA A5PKZ5|Q3ZCN0|Q6PJL3 hg19 CCDS11195.2 0.02 8.79371 TCCxCTT COVERED 1502 0.6877289377289377 436 0.8861788617886179 245 0.6767955801104972 311 0.5437062937062938 510 0.6728232189973615 A 0.003 -2.464307 0.00171 0.845438 0.674884 ENSG00000176994 ENST00000406438 T 0.28666 1.6 6.03 3.78 0.43462 . 0.416650 0.24490 N 0.038063 T 0.00012 0.0000 N 0.02916 -0.46 0.51012 P 9.199999999998099E-5 B 0.02656 0.0 B 0.01281 0.0 T 0.39210 -0.9625 9 0.02654 T 1 -47.3335 5.2516 0.15524 0.6731:0.0:0.1979:0.129 rs1563632;rs52825368;rs58128253;rs1563632 556 Q8TEV9 SMCR8_HUMAN H 556 ENSP00000385025:R556H ENSP00000385025:R556H R + 2 0 SMCR8 18161495 0.094000 0.21725 0.999000 0.59377 0.014000 0.08584 0.419000 0.21247 0.485000 0.27652 -0.254000 0.11334 CGC NOVEL SMCR8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132065.2 1 19.998718 KEEP 0 1 33 78 2675 GG 1 1 0 + 10 60 354 0 0 22.683906 202 60 7197 354 ENST00000406438.3 0.04717 1 SMCR8 140775 __UNKNOWN__ __UNKNOWN__ 17 18221010 18221010 __UNKNOWN__ Missense_Mutation SNP A A G rs12449313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18221010A>G ENST00000406438.3 + 1 2387 c.1907A>G c.(1906-1908)aAc>aGc p.N636S NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 636 NA N -> S (in dbSNP:rs12449313). nucleus (GO:0005634) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 GAAAATGCCAACCCTTCTTCC 0.587 NA A||| 1075 0.214657 0.1452 0.2421 5008 , , NA 20342 0.3185 NA 0.2425 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 A SER/ASN 683,3723 288.7+/-280.0 64,555,1584 67 64 65 1907 -7.7 0 17 dbSNP_120 65 2197,6403 372.7+/-336.7 284,1629,2387 yes missense SMCR8 NM_144775.2 46 348,2184,3971 GG,GA,AA 25.5465,15.5016,22.1436 benign 636/938 18221010 2880,10126 2203 4300 6503 SO:0001583 missense AF467440 CCDS11195.2 17p11.2 2014-06-12 ENSG00000176994 ENSG00000176994 140775 17921 protein-coding gene gene with protein product NA 11997338, 23248642 Standard NM_144775 NM_144775 NA Approved FLJ34716 uc002gsy.4 Q8TEV9 OTTHUMG00000059394 ENST00000406438.3:c.1907A>G chr17.hg19:g.18221010A>G ENSP00000385025:p.Asn636Ser NA A5PKZ5|Q3ZCN0|Q6PJL3 hg19 CCDS11195.2 0.02 11.748432 CCAxCCC COVERED 527 0.2413003663003663 81 0.16463414634146342 86 0.23756906077348067 167 0.291958041958042 193 0.2546174142480211 A 0.006 -2.101022 0.00360 0.155016 0.255465 ENSG00000176994 ENST00000406438 T 0.38240 1.15 5.87 -7.65 0.01281 . 1.269400 0.05095 N 0.486016 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.30650 -0.9971 9 0.13108 T 0.6 -32.4624 20.8995 0.99940 0.3953:0.0:0.6047:0.0 rs12449313;rs52833335;rs58781335;rs12449313 636 Q8TEV9 SMCR8_HUMAN S 636 ENSP00000385025:N636S ENSP00000385025:N636S N + 2 0 SMCR8 18161735 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -1.038000 0.03553 -2.092000 0.00857 -1.139000 0.01908 AAC NOVEL SMCR8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132065.2 3 33.998047 KEEP 0 0 0 113 3507 AA 1 1 0 + 13 60 490 0 0 32.772181 248 60 8565 480 ENST00000406438.3 0.049808 1 SHMT1 6470 __UNKNOWN__ __UNKNOWN__ 17 18236339 18236339 __UNKNOWN__ Intron SNP G G A rs2273029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18236339G>A ENST00000316694.3 - 9 1189 SHMT1_ENST00000539052.1_Intron|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) NA NA carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116) AGTTGGAGGCGAGGCTGACCT 0.587 NA G||| 1067 0.213059 0.1452 0.2334 5008 , , NA 19824 0.3165 NA 0.2425 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11196.1, CCDS11197.1, CCDS62112.1 17p11.2 2010-04-23 ENSG00000176974 ENSG00000176974 6470 2.1.2.1 10850 protein-coding gene gene with protein product cytoplasmic serine hydroxymethyltransferase, 14 kDa protein 182144 NA 8505317 Standard NM_004169 NM_004169 NA Approved CSHMT, SHMT, MGC15229, MGC24556 uc002gta.3 P34896 OTTHUMG00000059094 ENST00000316694.3:c.1054+140C>T chr17.hg19:g.18236339G>A NA B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2 hg19 CCDS11196.1 0.02 5.540231 GGCxAGG COVERED NOVEL SHMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130831.2 0 10.83441 KEEP 0 0 0 36 1225 GG 0.999999 0.999999 0 - 8 60 277 0 0 16.998919 189 60 6486 285 ENST00000316694.3 0.040609 1 SHMT1 6470 __UNKNOWN__ __UNKNOWN__ 17 18252010 18252010 __UNKNOWN__ Intron SNP T T C rs3866955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18252010T>C ENST00000316694.3 - 4 377 SHMT1_ENST00000539052.1_Intron|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) NA NA carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116) GGGTTTTggctgggagaggtg 0.498 NA C||| 2236 0.446486 0.5613 0.4135 5008 , , NA 17675 0.4802 NA 0.3509 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 C , 894,858 221,452,203 112 114 113 , -1.8 0 17 dbSNP_108 113 1468,2514 277,914,800 no intron,intron SHMT1 NM_004169.3,NM_148918.1 , 498,1366,1003 CC,CT,TT 36.8659,48.9726,41.1929 , , 18252010 2362,3372 876 1991 2867 SO:0001627 intron_variant CCDS11196.1, CCDS11197.1, CCDS62112.1 17p11.2 2010-04-23 ENSG00000176974 ENSG00000176974 6470 2.1.2.1 10850 protein-coding gene gene with protein product cytoplasmic serine hydroxymethyltransferase, 14 kDa protein 182144 NA 8505317 Standard NM_004169 NM_004169 NA Approved CSHMT, SHMT, MGC15229, MGC24556 uc002gta.3 P34896 OTTHUMG00000059094 ENST00000316694.3:c.243-256A>G chr17.hg19:g.18252010T>C NA B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2 hg19 CCDS11196.1 0.02 2.136366 GGCxGGG COVERED NOVEL SHMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000130831.2 0 7.523058 KEEP 0 0 0 25 797 TT 0.999931 0.99987 0 - 8 60 287 0 0 20.524362 89 60 3269 137 ENST00000316694.3 0.082474 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 18301191 18301191 __UNKNOWN__ IGR SNP C C T rs71281033|rs145743096 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18301191C>T NA NA EVPLL (8230 upstream) : RP1-37N7.3 (13281 downstream) NA NA NA GTGAAACTAACAGCATCTGCA 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.18301191C>T NA hg19 0.02 6.766075 TAAxAGC COVERED NOVEL 0 2 2.210543 KEEP 52 3 90 39 1383 CC 0.999997 0.999997 0 17 49 623 0 0 46.599589 149 50 5673 353 0.10241 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 18379722 18379722 __UNKNOWN__ IGR SNP A A G rs200102717 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18379722A>G NA NA KRT16P4 (488 upstream) : LGALS9C (328 downstream) NA NA NA atgtaaaatgagTTGAAGCCA 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.18379722A>G NA hg19 0.02 7.32549 ATGxGTT COVERED NOVEL 0 1 10.229305 KEEP 1 0 0 34 1069 AA 0.999998 0.999998 0 11 47 409 0 0 27.705857 187 60 6810 276 0.055556 1 ZNF286B 729288 __UNKNOWN__ __UNKNOWN__ 17 18563305 18563305 __UNKNOWN__ 3'UTR SNP C C T rs78622756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18563305C>T ENST00000285274.5 - 0 3581 ZNF286B_ENST00000545289.1_3'UTR P0CG31 Z286B_HUMAN zinc finger protein 286B NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|lung(1) 2 agtttgtcaactcctgCTCTA 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS58523.1 17p11.2 2013-01-08 ENSG00000249459 ENSG00000249459 729288 Zinc fingers, C2H2-type 33241 protein-coding gene gene with protein product zinc finger protein 590 zinc finger protein 286-like, zinc finger 286C pseudogene ZNF286L, ZNF286C NA Standard XM_001723047 NM_001145045 NA Approved ZNF590 uc010vyd.1 P0CG31 OTTHUMG00000178136 ENST00000285274.5:c.*3164G>A chr17.hg19:g.18563305C>T NA hg19 0.02 28.041546 CAAxTCC COVERED NOVEL ZNF286B-003 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000131052.3 12 18.935531 KEEP 1 5 157 118 4191 CC 1 1 0 - 55 60 2071 1 0 152.381879 573 60 21843 977 ENST00000285274.5 0.08758 1 FBXW10 10517 __UNKNOWN__ __UNKNOWN__ 17 18647539 18647539 __UNKNOWN__ 5'UTR SNP G G A rs62073745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:18647539G>A ENST00000395665.4 + 0 203 FBXW10_ENST00000395667.1_5'UTR|FBXW10_ENST00000308799.4_5'UTR|FBXW10_ENST00000301938.4_5'UTR Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 NA NA NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GGCTAAAATGGACTGGTTATC 0.478 NA .||| 3164 0.631789 0.6936 0.6066 5008 , , NA 17090 0.4653 NA 0.7843 False NA ,,, NA NA NA 2504 0.5808 NA NA NA NA 0 100 79 86 NA NA 17 NA 18647539 2072 3981 6053 SO:0001623 5_prime_UTR_variant BC028364 CCDS11199.2, CCDS11199.3, CCDS58524.1 17p11 2013-01-09 2007-02-08 2004-07-21 ENSG00000171931 ENSG00000171931 10517 F-boxes / WD-40 domains, WD repeat domain containing 1211 protein-coding gene gene with protein product 611679 chromosome 17 open reading frame 1A, F-box and WD-40 domain protein 10 C17orf1, C17orf1A NA 9787083, 7586531 Standard NM_031456 NM_001267585 NA Approved SM2SH2, HREP, Fbw10 uc002guk.3 Q5XX13 OTTHUMG00000059048 ENST00000395665.4:c.-19G>A chr17.hg19:g.18647539G>A NA C9JRY8|C9JZD7|Q8TC00|Q9H0F0 hg19 CCDS11199.3 0.02 26.965792 ATGxACT COVERED NOVEL FBXW10-003 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000313531.2 3 14.984931 KEEP 2 7 187 116 4054 GG 1 1 0 + 101 42 3647 1 0 292.099595 534 60 19750 904 ENST00000395665.4 0.159055 1 RNF112 7732 __UNKNOWN__ __UNKNOWN__ 17 19318031 19318031 __UNKNOWN__ Intron SNP A A G rs1295330 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:19318031A>G ENST00000461366.1 + 10 1223 NM_007148.4 NP_009079.2 Q9ULX5 RN112_HUMAN ring finger protein 112 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 GGTGGGGAAGACATGGGAGGC 0.617 NA .||| 2846 0.568291 0.5257 0.5648 5008 , , NA 17708 0.4048 NA 0.7276 False NA ,,, NA NA NA 2504 0.6329 NA NA NA NA 0 G 804,580 214,376,102 60 61 61 -0.4 0 17 dbSNP_87 61 2286,896 826,634,131 no intron RNF112 NM_007148.4 1040,1010,233 GG,GA,AA 28.1584,41.9075,32.3259 19318031 3090,1476 692 1591 2283 SO:0001627 intron_variant AF054587 CCDS58529.1 17p11.2 2013-01-16 2008-06-13 2008-06-13 ENSG00000128482 ENSG00000128482 7732 RING-type (C3HC4) zinc fingers 12968 protein-coding gene gene with protein product 601237 zinc finger protein 179 ZNF179 NA 8660987, 9806830 Standard NM_007148 NM_007148 NA Approved BFP uc010vyw.2 Q9ULX5 OTTHUMG00000059601 ENST00000461366.1:c.1009-52A>G chr17.hg19:g.19318031A>G NA O60633|Q7Z5V9 hg19 CCDS58529.1 0.02 10.930485 AAGxCAT COVERED NOVEL RNF112-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132549.4 4 6.992098 KEEP 0 2 74 49 1531 AA 1 1 0 + 9 60 329 0 0 19.843685 277 60 9808 408 ENST00000461366.1 0.031469 1 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19552476 19552476 __UNKNOWN__ Intron SNP C C T rs4646793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:19552476C>T ENST00000339618.4 + 1 374 ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000581518.1_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000176643.6_Intron NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 NA NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) AAACTGGCCCCCGCCGCGCAC 0.592 NA c||| 1679 0.335264 0.1498 0.3256 5008 , , NA 16831 0.5238 NA 0.2883 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 C , 753,3513 82,589,1462 7 8 7 , -2.2 0 17 dbSNP_111 7 2350,6042 365,1620,2211 no intron,intron ALDH3A2 NM_000382.2,NM_001031806.1 , 447,2209,3673 TT,TC,CC 28.0029,17.6512,24.5141 , , 19552476 3103,9555 2133 4196 6329 SO:0001627 intron_variant L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000339618.4:c.153+39C>T chr17.hg19:g.19552476C>T NA Q6I9T3|Q93011|Q96J37 hg19 CCDS32589.1 0.02 6.440529 CCCxCGC COVERED NOVEL ALDH3A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132269.1 0 42.135379 KEEP 0 0 0 140 5014 CC 1 1 0 + 8 60 266 0 0 16.148125 177 60 6545 428 ENST00000339618.4 0.043243 1 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19555976 19555976 __UNKNOWN__ Intron SNP T T C rs1004491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:19555976T>C ENST00000339618.4 + 3 692 ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000581518.1_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000176643.6_Intron NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 NA NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) CTCCAACATATGTGTTTACTG 0.408 NA t||| 1640 0.327476 0.1225 0.3228 5008 , , NA 19855 0.5258 NA 0.2843 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 T , 688,3718 286.3+/-278.7 60,568,1575 86 80 82 , -6.7 0 17 dbSNP_86 82 2562,6038 418.1+/-352.7 376,1810,2114 no intron,intron ALDH3A2 NM_000382.2,NM_001031806.1 , 436,2378,3689 CC,CT,TT 29.7907,15.6151,24.9885 , , 19555976 3250,9756 2203 4300 6503 SO:0001627 intron_variant L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000339618.4:c.471+31T>C chr17.hg19:g.19555976T>C NA Q6I9T3|Q93011|Q96J37 hg19 CCDS32589.1 0.02 1.737015 ATAxGTG COVERED NOVEL ALDH3A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132269.1 0 3.578515 KEEP 0 2 60 33 1042 TT 0.999999 0.999938 0 + 5 60 178 0 0 11.635764 92 60 3362 164 ENST00000339618.4 0.051546 0.99994 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19559623 19559623 __UNKNOWN__ Intron SNP G G A rs2072332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:19559623G>A ENST00000339618.4 + 4 692 ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000581518.1_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000176643.6_Intron NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 NA NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) GATTGCTGATGTTAGACGTTA 0.423 NA g||| 1684 0.336262 0.1551 0.3256 5008 , , NA 22609 0.5248 NA 0.2843 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000339618.4:c.472-56G>A chr17.hg19:g.19559623G>A NA Q6I9T3|Q93011|Q96J37 hg19 CCDS32589.1 0.02 6.207857 GATxTTA COVERED NOVEL ALDH3A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132269.1 2 7.825457 KEEP 0 0 0 26 908 GG 0.999957 0.999957 0 + 12 60 438 0 0 30.8202 154 60 5807 193 ENST00000339618.4 0.072289 1 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19578873 19578873 __UNKNOWN__ Nonsense_Mutation SNP A A T rs7216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:19578873A>T ENST00000571163.1 + 3 229 c.229A>T c.(229-231)Aga>Tga p.R77* ALDH3A2_ENST00000339618.4_3'UTR|ALDH3A2_ENST00000395575.2_Silent_p.A482A|ALDH3A2_ENST00000574597.1_3'UTR|ALDH3A2_ENST00000581518.1_Splice_Site|ALDH3A2_ENST00000579855.1_Silent_p.A482A|ALDH3A2_ENST00000176643.6_Silent_p.A482A P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 213 NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) CTCTCCAGGCAGAATATTACT 0.398 NA T||| 3398 0.678514 0.5045 0.6715 5008 , , NA 19666 0.9861 NA 0.5616 False NA ,,, NA NA NA 2504 0.7219 NA NA NA NA 0 T , 2348,2058 569.2+/-382.6 618,1112,473 199 191 194 1446, 1.6 0.2 17 dbSNP_52 194 4814,3786 535.3+/-382.8 1329,2156,815 no coding-synonymous,utr-3 ALDH3A2 NM_000382.2,NM_001031806.1 , 1947,3268,1288 TT,TA,AA 44.0233,46.709,44.9331 , 482/486, 19578873 7162,5844 2203 4300 6503 SO:0001587 stop_gained L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000571163.1:c.229A>T chr17.hg19:g.19578873A>T ENSP00000459977:p.Arg77* NA Q6I9T3|Q93011|Q96J37 hg19 0.02 30.973441 GGCxGAA COVERED NOVEL ALDH3A2-010 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441026.2 2 34.168144 KEEP 0 2 58 134 4212 AA 1 1 0 + 36 60 1366 0 0 92.639431 644 60 24094 1018 ENST00000571163.1 0.052941 1 ALDH3A2 224 __UNKNOWN__ __UNKNOWN__ 17 19580494 19580494 __UNKNOWN__ 3'UTR SNP A A G rs7215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:19580494A>G ENST00000339618.4 + 0 3413 ALDH3A2_ENST00000395575.2_3'UTR|ALDH3A2_ENST00000579855.1_3'UTR|ALDH3A2_ENST00000176643.6_3'UTR NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 NA NA cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777) aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) CCCACACTCAAAAAGACTCAG 0.438 NA A||| 3026 0.604233 0.3328 0.6398 5008 , , NA 21260 0.9018 NA 0.5388 False NA ,,, NA NA NA 2504 0.7065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L47162 CCDS11210.1, CCDS32589.1 17p11.2 2010-05-07 ENSG00000072210 ENSG00000072210 224 1.2.1.3 Aldehyde dehydrogenases 403 protein-coding gene gene with protein product fatty aldehyde dehydrogenase 609523 SLS, ALDH10 NA 7894487 Standard NM_000382 NA Approved FALDH uc002gwa.1 P51648 OTTHUMG00000059471 ENST00000339618.4:c.*1665A>G chr17.hg19:g.19580494A>G NA Q6I9T3|Q93011|Q96J37 hg19 CCDS32589.1 0.02 7.042347 TCAxAAA COVERED NOVEL ALDH3A2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000132269.1 1 4.583016 KEEP 0 2 74 41 1265 AA 1 1 0 + 9 60 344 0 0 23.629489 152 60 5369 244 ENST00000339618.4 0.055901 1 SPECC1 92521 __UNKNOWN__ __UNKNOWN__ 17 20218014 20218014 __UNKNOWN__ 3'UTR SNP A A C rs371116316 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:20218014A>C ENST00000261503.5 + 0 3894 SPECC1_ENST00000395530.2_3'UTR|AC004702.2_ENST00000580225.1_lincRNA NM_001033553.2 NP_001028725.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 NA NA cell adhesion (GO:0007155) nucleus (GO:0005634) breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) CTCCCCCCCCAAAAAAAAACA 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY816329, AB041533 CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1 17p11.2 2012-11-19 2010-09-17 2010-09-17 ENSG00000128487 ENSG00000128487 92521 30615 protein-coding gene gene with protein product sperm antigen HCMOGT 1, cytokinesis and spindle organization B, cytospin B 608793 NA 15602574, 18763323, 15087372 Standard NM_152904 NM_001033553 NA Approved HCMOGT-1, FLJ36955, NSP, CYTSB uc002gwq.3 Q5M775 OTTHUMG00000179808 ENST00000261503.5:c.*636A>C chr17.hg19:g.20218014A>C NA B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3 hg19 CCDS32590.1 0.02 -0.309227 CCCxAAA COVERED NOVEL SPECC1-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441206.1 4 4.812262 KEEP 0 0 0 16 458 AA 0.997832 0.81669 0 + 9 70 134 0 1 9.512795 22 70 610 67 ENST00000261503.5 0.290323 0.818465 SPECC1 92521 __UNKNOWN__ __UNKNOWN__ 17 20218040 20218040 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:20218040T>A ENST00000261503.5 + 0 3920 SPECC1_ENST00000395530.2_3'UTR|AC004702.2_ENST00000580225.1_lincRNA NM_001033553.2 NP_001028725.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 NA NA cell adhesion (GO:0007155) nucleus (GO:0005634) breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ACACAAAAAATAAACATTTGT 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY816329, AB041533 CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1 17p11.2 2012-11-19 2010-09-17 2010-09-17 ENSG00000128487 ENSG00000128487 92521 30615 protein-coding gene gene with protein product sperm antigen HCMOGT 1, cytokinesis and spindle organization B, cytospin B 608793 NA 15602574, 18763323, 15087372 Standard NM_152904 NM_001033553 NA Approved HCMOGT-1, FLJ36955, NSP, CYTSB uc002gwq.3 Q5M775 OTTHUMG00000179808 ENST00000261503.5:c.*662T>A chr17.hg19:g.20218040T>A NA B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3 hg19 CCDS32590.1 0.02 1.030331 AAAxAAA COVERED NOVEL SPECC1-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441206.1 6 6.610352 KEEP 0 0 0 22 621 TT 0.999879 0.998574 0 + 9 60 178 1 0 10.411489 65 60 2291 125 ENST00000261503.5 0.121622 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 20420551 20420551 __UNKNOWN__ IGR SNP A A G rs28393568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:20420551A>G NA NA AC025627.9 (1001 upstream) : AC015818.3 (2073 downstream) NA NA NA CTCACCTCCGACCAGCAGCCC 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.20420551A>G NA hg19 0.02 -0.254409 CCGxCCA COVERED NOVEL 0 0 3.008199 KEEP 0 0 0 10 301 AA 0.993072 0.663892 0 11 49 406 0 0 37.488636 18 60 630 55 0.37931 0.668523 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768447 20768447 __UNKNOWN__ 3'UTR SNP A A G rs201525365 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:20768447A>G ENST00000327925.5 - 0 1066 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 AAAAATTTAGATACTATCTCT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*281T>C chr17.hg19:g.20768447A>G NA hg19 CCDS32591.1 0.02 21.200122 TAGxTAC COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 5 3.581652 KEEP 42 2 69 36 1165 AA 0.999998 0.999998 0 - 19 40 662 0 0 42.444863 367 60 13351 627 ENST00000327925.5 0.049223 1 CCDC144NL 339184 __UNKNOWN__ __UNKNOWN__ 17 20768458 20768458 __UNKNOWN__ 3'UTR SNP T T C rs76842998 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:20768458T>C ENST00000327925.5 - 0 1055 CCDC144NL_ENST00000539484.1_Intron NM_001004306.1 NP_001004306.1 Q6NUI1 C144L_HUMAN coiled-coil domain containing 144 family, N-terminal like NA NA large_intestine(3)|lung(3)|skin(1) 7 TACTATCTCTTCAAAATAAGC 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32591.1 17p11.2 2009-01-15 ENSG00000205212 ENSG00000205212 339184 33735 protein-coding gene gene with protein product NA Standard NM_001004306 NM_001004306 NA Approved MGC87631 uc002gyf.3 Q6NUI1 OTTHUMG00000132271 ENST00000327925.5:c.*270A>G chr17.hg19:g.20768458T>C NA hg19 CCDS32591.1 0.02 25.344643 TCTxCAA COVERED NOVEL CCDC144NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255361.2 6 5.083663 KEEP 80 2 66 40 1248 TT 0.999998 0.999998 0 - 19 40 710 0 0 45.962185 427 60 15424 728 ENST00000327925.5 0.042601 1 MAP2K3 5606 __UNKNOWN__ __UNKNOWN__ 17 21216951 21216951 __UNKNOWN__ Intron SNP C C G rs1673839 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21216951C>G ENST00000342679.4 + 11 1209 MAP2K3_ENST00000316920.6_Intron|MAP2K3_ENST00000361818.5_Intron NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 NA NA activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) NA COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) TGGGTAGCTCCTCTGGCTGGC 0.637 NA C||| 1 0.000199681 0.0 0.0014 5008 , , NA 15888 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36719 CCDS11217.1, CCDS11218.1 17q11.2 2011-06-09 ENSG00000034152 ENSG00000034152 5606 Mitogen-activated protein kinase cascade / Kinase kinases 6843 protein-coding gene gene with protein product MAPK/ERK kinase 3, MAP kinase kinase 3, dual specificity mitogen activated protein kinase kinase 3 602315 PRKMK3 NA 9465908 Standard NM_145109 NM_145109 NA Approved MEK3, MKK3, MAPKK3 uc002gys.3 P46734 OTTHUMG00000134322 ENST00000342679.4:c.960+102C>G chr17.hg19:g.21216951C>G NA B3KSK7|Q99441|Q9UE71|Q9UE72 hg19 CCDS11217.1 0.02 2.303257 CTCxTCT COVERED NOVEL MAP2K3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259374.2 1 3.000113 KEEP 0 0 0 10 325 CC 0.992708 0.991708 0 + 26 60 960 0 0 89.413507 39 60 1395 95 ENST00000342679.4 0.4 0.998993 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21249129 21249129 __UNKNOWN__ IGR SNP T T G rs2363145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21249129T>G NA NA MAP2K3 (30577 upstream) : KCNJ12 (30379 downstream) NA NA NA ccccggctaatttttgtattt 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21249129T>G NA hg19 0.02 -0.061409 TAAxTTT UNCOVERED NOVEL 0 3 2.40692 KEEP 0 0 0 8 244 TT 0.99257 0.043461 0 2 60 74 0 0 6.535568 5 60 180 19 0.285714 0.043787 C17orf51 339263 __UNKNOWN__ __UNKNOWN__ 17 21431819 21431819 __UNKNOWN__ 3'UTR SNP T T C rs6587161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21431819T>C ENST00000391411.5 - 0 7665 NM_001113434.3 NP_001106905.1 A8MQB3 CQ051_HUMAN chromosome 17 open reading frame 51 NA NA endometrium(1) 1 CCTAGACGCCTCCTTTCCGGC 0.572 NA N||| 2129 0.42512 0.8109 0.366 5008 , , NA 15192 0.0744 NA 0.4443 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC010612 CCDS45629.1 17p11.2 2012-10-11 ENSG00000212719 ENSG00000212719 339263 27904 protein-coding gene gene with protein product NA Standard NM_001113434 XM_005256621 NA Approved FLJ12977, FLJ31874, FLJ33618 uc002gyw.4 A8MQB3 OTTHUMG00000132832 ENST00000391411.5:c.*6742A>G chr17.hg19:g.21431819T>C NA B2RN29|B5MCL4 hg19 CCDS45629.1 0.02 6.652212 GCCxCCT COVERED NOVEL C17orf51-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256298.3 2 6.555218 KEEP 0 1 38 35 1102 TT 0.999999 0.999999 0 - 7 60 230 0 0 14.095061 154 60 5653 251 ENST00000391411.5 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21558258 21558258 __UNKNOWN__ IGR SNP C C T rs2364065|rs397833263 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21558258C>T NA NA AC138710.1 (77087 upstream) : UBBP4 (171342 downstream) NA NA NA ACATAAGGCCCCAGTTCGACA 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21558258C>T NA hg19 0.02 -0.368442 GCCxCAG COVERED NOVEL 0 2 3.611812 KEEP 0 0 0 12 430 CC 0.993634 0.893588 0 4 60 161 0 0 13.478956 18 60 650 71 0.181818 0.899314 UBBP4 23666 __UNKNOWN__ __UNKNOWN__ 17 21730916 21730916 __UNKNOWN__ Missense_Mutation SNP G G T rs111245273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21730916G>T ENST00000578713.1 + 1 222 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L ubiquitin B pseudogene 4 NA NA p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552 NA .||| 27 0.00539137 0.0182 0.0029 5008 , , NA 20752 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 24 Substitution - Missense(24) kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense X07499 17p11.2 2011-08-10 ENSG00000263563 23666 12467 pseudogene pseudogene NA 2834222 Standard NG_002285 NA Approved uc002gyy.3 ENST00000578713.1:c.218G>T chr17.hg19:g.21730916G>T ENSP00000464265:p.Arg73Leu NA hg19 0.02 3.967337 GTCxGAG COVERED NOVEL UBBP4-004 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000444589.2 1 2.708592 KEEP 1 0 0 9 307 GG 0.99254 0.99254 0 + 5 40 187 0 0 11.756545 133 60 4562 173 ENST00000578713.1 0.036232 1 FAM27L 284123 __UNKNOWN__ __UNKNOWN__ 17 21826256 21826256 __UNKNOWN__ lincRNA SNP A A G rs9989450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21826256A>G ENST00000426869.3 + 0 439 NR_028336.1 Q8N5T8 FA27L_HUMAN family with sequence similarity 27-like NA NA central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) AGAGGAAGCCAGGAATGGGAG 0.557 NA G||| 2240 0.447284 0.4955 0.4308 5008 , , NA 19940 0.5923 NA 0.337 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 G 1756,2248 398,960,644 54 60 58 -0.3 0 17 dbSNP_119 58 2697,5643 440,1817,1913 no intergenic 838,2777,2557 GG,GA,AA 32.3381,43.8561,36.0742 21826256 4453,7891 2002 4170 6172 BC031617 17p11.2 2014-01-28 ENSG00000178130 284123 32410 protein-coding gene gene with protein product NA Standard NM_203392 NR_028336 NA Approved MGC35151 uc002gyz.4 Q8N5T8 ENST00000426869.3: chr17.hg19:g.21826256A>G NA hg19 0.02 7.231177 GCCxGGA COVERED 941 0.4308608058608059 228 0.4634146341463415 140 0.3867403314917127 319 0.5576923076923077 254 0.33509234828496043 G 0.017 -1.507592 0.00984 0.438561 0.323381 ENSG00000178130 ENST00000426869 . . . 0.158 -0.317 0.12736 . . . . . T 0.00012 0.0000 . . . 0.20821 P 0.999846 . . . . . . T 0.49485 -0.8935 3 0.02654 T 1 . . . . rs9989450;rs17845966;rs17858948;rs60498512 . . . G 79 . ENSP00000388448:R79G R + 1 2 FAM27L 21750383 0.008000 0.16893 0.002000 0.10522 0.002000 0.02628 -2.815000 0.00752 -4.419000 0.00050 -4.428000 0.00006 AGG NOVEL FAM27L-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000389059.2 0 5.115076 KEEP 0 0 0 17 531 AA 0.999366 0.999366 0 + 12 60 411 0 0 27.525897 174 60 6428 255 ENST00000426869.3 0.064516 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21904231 21904231 __UNKNOWN__ IGR SNP C C T rs112631890 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21904231C>T NA NA FAM27L (77732 upstream) : RP11-744K17.9 (2185 downstream) NA NA NA cccgagaagtcgtgcccccgt 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21904231C>T NA hg19 0.02 3.956977 AGTxGTG COVERED NOVEL 0 0 3.911122 KEEP 15 0 0 13 398 CC 0.993072 0.993072 0 7 47 241 0 0 15.404698 132 48 4312 183 0.05036 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21905007 21905007 __UNKNOWN__ IGR SNP C C T rs4577138 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21905007C>T NA NA FAM27L (78508 upstream) : RP11-744K17.9 (1409 downstream) NA NA NA CTTGCTCTGTCTCCCCTGTTT 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21905007C>T NA hg19 0.02 5.639316 TGTxTCC COVERED NOVEL 0 1 3.683302 KEEP 82 2 68 36 1289 CC 0.999997 0.999997 0 9 40 307 0 0 19.6244 165 40 6116 314 0.051724 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21906260 21906260 __UNKNOWN__ IGR SNP A A G rs71269701 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21906260A>G NA NA FAM27L (79761 upstream) : RP11-744K17.9 (156 downstream) NA NA NA cctgactgccaggagccaagc 0.697 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21906260A>G NA hg19 0.02 2.019352 GCCxGGA COVERED NOVEL 0 4 3.611046 KEEP 7 0 0 12 379 AA 0.993634 0.99359 0 6 49 209 0 0 13.94052 93 50 3367 136 0.060606 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 21906306 21906306 __UNKNOWN__ IGR SNP C C T rs4248515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:21906306C>T NA NA FAM27L (79807 upstream) : RP11-744K17.9 (110 downstream) NA NA NA gcgcgaggcgcgcgccgcttt 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.21906306C>T NA hg19 0.02 6.033501 GCGxGCG COVERED NOVEL 0 4 2.640719 KEEP 0 1 23 17 560 CC 0.999859 0.999859 0 9 60 312 0 0 19.88038 176 60 6135 236 0.048649 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22064988 22064988 __UNKNOWN__ IGR SNP G G A rs1969345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:22064988G>A NA NA MTND1P15 (39966 upstream) : RP11-285M22.3 (111033 downstream) NA NA NA aaaatttagtgcaggggatag 0.333 NA A||| 2343 0.467851 0.6694 0.4366 5008 , , NA 15940 0.5129 NA 0.3042 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.22064988G>A NA hg19 0.02 10.292881 AGTxCAG COVERED NOVEL 0 2 6.621625 KEEP 0 0 0 22 787 GG 0.999879 0.999879 0 12 60 418 0 0 26.062091 267 60 10215 365 0.043011 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22065173 22065173 __UNKNOWN__ IGR SNP A A G rs8067434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:22065173A>G NA NA MTND1P15 (40151 upstream) : RP11-285M22.3 (110848 downstream) NA NA NA ggccttacctagaagttgaac 0.393 NA A||| 1792 0.357827 0.3585 0.3934 5008 , , NA 17127 0.5069 NA 0.2396 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.22065173A>G NA hg19 0.02 14.132055 CCTxGAA COVERED NOVEL 0 1 9.923666 KEEP 0 0 0 33 1019 AA 0.999998 0.999998 0 15 60 547 0 0 35.590706 314 60 11599 430 0.045593 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22253144 22253144 __UNKNOWN__ IGR SNP T T C rs4107688 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:22253144T>C NA NA RP11-285M22.1 (60204 upstream) : None (None downstream) NA NA NA cttgggcctctctgaggattt 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.22253144T>C NA hg19 0.02 14.931759 CTCxCTG COVERED NOVEL 0 52 3.18501 KEEP 68 5 179 73 2277 TT 1 1 0 10 44 364 0 0 26.662792 99 60 3628 627 0.091743 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22254705 22254705 __UNKNOWN__ IGR SNP A A T rs141684771|rs7219174 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:22254705A>T NA NA RP11-285M22.1 (61765 upstream) : None (None downstream) NA NA NA atcttcacataaaaactaaac 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.22254705A>T NA hg19 0.02 3.973456 CATxAAA COVERED NOVEL 0 3 6.751929 KEEP 46 1 27 32 1003 AA 0.999863 0.99984 0 5 37 176 0 0 13.330137 37 50 1262 199 0.119048 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 22258631 22258631 __UNKNOWN__ IGR SNP T T C rs150279470 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:22258631T>C NA NA RP11-285M22.1 (65691 upstream) : None (None downstream) NA NA NA acagaagcattctcaggaact 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.22258631T>C NA hg19 0.02 7.212103 CATxCTC COVERED NOVEL 0 3 3.981355 KEEP 57 2 68 37 1171 TT 0.999931 0.999931 0 11 40 397 0 0 39.723621 7 25 265 296 0.611111 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 25264912 25264912 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:25264912G>A NA NA None (None upstream) : RP11-260A9.6 (51302 downstream) NA NA NA gtggagtggagtggtgtggaa 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.25264912G>A NA hg19 0.02 -0.280749 GGAxTGG COVERED NOVEL 0 8 3.009559 KEEP 3 0 0 10 351 GG 0.992708 0.734278 0 2 60 75 0 0 6.500539 6 60 227 52 0.25 0.739671 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 25309196 25309196 __UNKNOWN__ IGR SNP A A G rs11655572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:25309196A>G NA NA None (None upstream) : RP11-260A9.6 (7018 downstream) NA NA NA CAGGCTGGCGACGGGGCCCTG 0.692 NA .||| 2347 0.46865 0.6384 0.4568 5008 , , NA 16256 0.4683 NA 0.3449 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.25309196A>G NA hg19 0.02 -0.193003 GCGxCGG COVERED NOVEL 0 1 2.406192 KEEP 0 0 0 8 224 AA 0.99257 0.454356 0 3 60 115 0 0 9.126136 19 60 657 39 0.136364 0.457757 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 25410639 25410639 __UNKNOWN__ IGR SNP T T C rs11652017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:25410639T>C NA NA RP11-260A9.6 (83688 upstream) : RP11-663N22.1 (154245 downstream) NA NA NA TCAAGGGGTGTGGTGCCCGTG 0.552 NA N||| 2355 0.470248 0.6369 0.451 5008 , , NA 19919 0.506 NA 0.328 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.25410639T>C NA hg19 0.02 5.473155 GTGxGGT COVERED NOVEL 0 1 3.309485 KEEP 0 0 0 11 339 TT 0.993072 0.993072 0 8 60 270 0 0 16.367631 185 60 6532 211 0.041451 1 NOS2 4843 __UNKNOWN__ __UNKNOWN__ 17 26093543 26093543 __UNKNOWN__ Missense_Mutation SNP T T C rs28944173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:26093543T>C ENST00000313735.6 - 19 2472 c.2239A>G c.(2239-2241)Aca>Gca p.T747A NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 747 FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}. NA T -> A (in dbSNP:rs28944173). {ECO:0000269|Ref.10}. arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801) cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777) arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814) TACCTGGATGTCGGACTTTGT 0.483 NA T||| 23 0.00459265 0.0 0.0 5008 , , NA 21057 0.0228 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 298 260 273 NA NA 17 NA 26093543 2203 4300 6503 SO:0001583 missense U20141 CCDS11223.1 17q11.2 2014-06-12 2008-09-16 2008-09-16 ENSG00000007171 ENSG00000007171 4843 1.14.13.39 7873 protein-coding gene gene with protein product 163730 nitric oxide synthase 2A (inducible, hepatocytes) NOS2A NA 7682706 Standard NM_000625 NM_000625 NA Approved iNOS, NOS, HEP-NOS uc002gzu.3 P35228 OTTHUMG00000132445 ENST00000313735.6:c.2239A>G chr17.hg19:g.26093543T>C ENSP00000327251:p.Thr747Ala NA A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42 hg19 CCDS11223.1 0.02 18.410411 ATGxCGG COVERED 12 0.005494505494505495 0 0.0 0 0.0 12 0.02097902097902098 0 0.0 T 10.75 1.438208 0.25900 . . ENSG00000007171 ENST00000313735;ENST00000379105 T 0.32753 1.44 4.82 4.82 0.62117 Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1); 0.325126 0.31976 N 0.006777 T 0.09335 0.0230 N 0.05383 -0.06 0.28244 N 0.925562 B 0.14438 0.01 B 0.21360 0.034 T 0.11324 -1.0592 10 0.56958 D 0.05 . 13.852 0.63504 0.0:0.0:0.0:1.0 rs28944173 747 P35228 NOS2_HUMAN A 747;708 ENSP00000327251:T747A ENSP00000327251:T747A T - 1 0 NOS2 23117670 0.979000 0.34478 0.219000 0.23793 0.026000 0.11368 2.071000 0.41500 1.941000 0.56285 0.379000 0.24179 ACA NOVEL NOS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255597.1 1 13.240088 KEEP 0 0 0 44 1402 TT 1 1 0 - 16 60 609 0 0 39.010431 405 60 14402 584 ENST00000313735.6 0.038005 1 TMEM199 147007 __UNKNOWN__ __UNKNOWN__ 17 26686416 26686416 __UNKNOWN__ Missense_Mutation SNP G G A rs11538927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:26686416G>A ENST00000509083.1 + 3 388 c.364G>A c.(364-366)Gtc>Atc p.V122I CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000581386.1_3'UTR|TMEM199_ENST00000292114.3_Missense_Mutation_p.V122I|TMEM199_ENST00000395404.3_5'UTR Q8N511 TM199_HUMAN transmembrane protein 199 122 NA integral component of membrane (GO:0016021) endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 6 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CACCCGCAACGTCACTTGTCA 0.463 NA G||| 383 0.0764776 0.0015 0.0389 5008 , , NA 19726 0.2431 NA 0.0229 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 G ILE/VAL 28,4378 33.5+/-64.1 0,28,2175 90 75 80 364 4.5 1 17 dbSNP_120 80 101,8499 56.0+/-117.1 1,99,4200 yes missense TMEM199 NM_152464.1 29 1,127,6375 AA,AG,GG 1.1744,0.6355,0.9918 possibly-damaging 122/209 26686416 129,12877 2203 4300 6503 SO:0001583 missense AY074907 CCDS11228.1 17q11.2 2007-12-17 2007-12-17 2007-12-17 ENSG00000244045 ENSG00000244045 147007 18085 protein-coding gene gene with protein product chromosome 17 open reading frame 32 C17orf32 NA Standard NM_152464 NM_152464 NA Approved MGC45714 uc002hba.3 Q8N511 OTTHUMG00000132498 ENST00000509083.1:c.364G>A chr17.hg19:g.26686416G>A ENSP00000427614:p.Val122Ile NA hg19 0.02 4.511597 AACxTCA COVERED 134 0.06135531135531135 2 0.0040650406504065045 15 0.04143646408839779 100 0.17482517482517482 17 0.022427440633245383 G 18.49 3.634402 0.67130 0.006355 0.011744 ENSG00000244045 ENST00000292114;ENST00000509083;ENST00000395404 T;T 0.35421 1.31;1.31 5.56 4.48 0.54585 . 0.107611 0.64402 N 0.000005 T 0.00073 0.0002 L 0.39245 1.2 0.18873 P 0.9999800222 B;B 0.33841 0.428;0.081 B;B 0.23574 0.047;0.029 T 0.18587 -1.0332 9 0.25106 T 0.35 -11.9005 8.9184 0.35596 0.2982:0.0:0.7018:0.0 rs11538927;rs34731032;rs57276264 122;122 E9PBQ3;Q8N511 .;TM199_HUMAN I 122;122;40 ENSP00000292114:V122I;ENSP00000427614:V122I ENSP00000292114:V122I V + 1 0 TMEM199 23710543 1.000000 0.71417 1.000000 0.80357 0.804000 0.45430 2.787000 0.47798 1.189000 0.43028 0.591000 0.81541 GTC NOVEL TMEM199-201 KNOWN basic|exp_conf protein_coding NA protein_coding 0 25.88328 KEEP 0 0 0 86 2966 GG 1 1 0 + 8 60 300 0 0 20.403031 136 60 4903 294 ENST00000509083.1 0.055556 1 SUPT6H 6830 __UNKNOWN__ __UNKNOWN__ 17 27009749 27009749 __UNKNOWN__ Silent SNP C C T rs12051648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:27009749C>T ENST00000314616.6 + 14 1885 c.1602C>T c.(1600-1602)ggC>ggT p.G534G SUPT6H_ENST00000347486.4_Silent_p.G534G NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 534 Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1. NA chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CTTTAGATGGCCTGGCCAAAA 0.527 NA C||| 2018 0.402955 0.0318 0.4568 5008 , , NA 20230 0.5962 NA 0.5646 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 C 539,3867 242.8+/-252.7 32,475,1696 78 77 77 1602 -3.9 0.1 17 dbSNP_120 77 4963,3637 622.6+/-397.3 1451,2061,788 no coding-synonymous SUPT6H NM_003170.3 1483,2536,2484 TT,TC,CC 42.2907,12.2333,42.3036 534/1727 27009749 5502,7504 2203 4300 6503 SO:0001819 synonymous_variant U38658 CCDS32596.1 17q11.2 2013-02-14 2001-11-28 ENSG00000109111 6830 SH2 domain containing 11470 protein-coding gene gene with protein product 601333 suppressor of Ty (S.cerevisiae) 6 homolog NA 8786132 Standard NM_003170 XM_005258026 NA Approved KIAA0162, SPT6H uc002hby.3 Q7KZ85 ENST00000314616.6:c.1602C>T chr17.hg19:g.27009749C>T NA A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2 hg19 CCDS32596.1 0.02 6.389332 TGGxCTG COVERED NOVEL SUPT6H-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446422.2 2 15.651218 KEEP 0 0 0 52 1863 CC 1 1 0 + 7 60 246 0 0 15.526141 150 60 5412 253 ENST00000314616.6 0.044586 1 SUPT6H 6830 __UNKNOWN__ __UNKNOWN__ 17 27014962 27014962 __UNKNOWN__ Intron SNP A A T rs368556030 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:27014962A>T ENST00000314616.6 + 24 3289 SUPT6H_ENST00000347486.4_Intron NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) NA NA chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) tttttttttaattttGAGTGG 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U38658 CCDS32596.1 17q11.2 2013-02-14 2001-11-28 ENSG00000109111 6830 SH2 domain containing 11470 protein-coding gene gene with protein product 601333 suppressor of Ty (S.cerevisiae) 6 homolog NA 8786132 Standard NM_003170 XM_005258026 NA Approved KIAA0162, SPT6H uc002hby.3 Q7KZ85 ENST00000314616.6:c.3007-147A>T chr17.hg19:g.27014962A>T NA A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2 hg19 CCDS32596.1 0.02 1.727315 TTAxTTT COVERED NOVEL SUPT6H-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446422.2 0 2.49304 KEEP 0 2 28 19 463 AA 0.999869 0.999869 0 + 22 60 352 1 0 21.493877 94 60 2523 165 ENST00000314616.6 0.189655 1 PIPOX 51268 __UNKNOWN__ __UNKNOWN__ 17 27379121 27379121 __UNKNOWN__ Intron SNP G G A rs4795491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:27379121G>A ENST00000323372.4 + 3 589 PIPOX_ENST00000583215.1_Intron NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase NA NA L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653) peroxisome (GO:0005777) L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115) endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) cacaaaacaggcagcctctGA 0.502 NA G||| 1487 0.296925 0.5393 0.2478 5008 , , NA 21117 0.248 NA 0.1968 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF134593 CCDS11248.1 17p13.2 2008-07-18 ENSG00000179761 ENSG00000179761 51268 17804 protein-coding gene gene with protein product L-pipecolic acid oxidase NA 10772957, 10642506 Standard NM_016518 NM_016518 NA Approved LPIPOX uc002hdr.1 Q9P0Z9 OTTHUMG00000132679 ENST00000323372.4:c.264-817G>A chr17.hg19:g.27379121G>A NA B3KNH0|Q96H28|Q9C070 hg19 CCDS11248.1 0.02 4.17544 CAGxCAG COVERED NOVEL PIPOX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255954.1 0 8.728643 KEEP 0 0 0 29 1035 GG 0.999997 0.999997 0 + 11 60 393 0 0 27.931997 126 60 4621 207 ENST00000323372.4 0.080292 1 NUFIP2 57532 __UNKNOWN__ __UNKNOWN__ 17 27613663 27613663 __UNKNOWN__ Missense_Mutation SNP G G C rs151310824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:27613663G>C ENST00000225388.4 - 2 1407 c.1349C>G c.(1348-1350)aCa>aGa p.T450R NUFIP2_ENST00000579665.1_Intron NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 450 NA cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) AACTGAATCTGTCCCAGAAGA 0.438 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 20333 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 84 84 84 NA NA 17 NA 27613663 2203 4300 6503 SO:0001583 missense AB037742 CCDS32600.1 17q11.1 2006-03-01 ENSG00000108256 57532 17634 protein-coding gene gene with protein product 609356 NA 12837692, 16407062 Standard NM_020772 NM_020772 NA Approved KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP uc002hdy.4 Q7Z417 ENST00000225388.4:c.1349C>G chr17.hg19:g.27613663G>C ENSP00000225388:p.Thr450Arg NA A1L3A6|Q9P2M5 hg19 CCDS32600.1 0.02 11.12412 TCTxTCC COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 13.98 2.398902 0.42512 . . ENSG00000108256 ENST00000225388 . . . 6.17 4.2 0.49525 . 0.388274 0.27549 N 0.018874 T 0.42743 0.1216 N 0.19112 0.55 0.80722 D 1 B 0.21905 0.062 B 0.19946 0.027 T 0.41502 -0.9505 9 0.62326 D 0.03 -19.2845 12.3076 0.54910 0.1366:0.0:0.8634:0.0 . 450 Q7Z417 NUFP2_HUMAN R 450 . ENSP00000225388:T450R T - 2 0 NUFIP2 24637789 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.551000 0.53698 1.627000 0.50400 0.655000 0.94253 ACA NOVEL NUFIP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447015.2 2 15.650551 KEEP 0 0 0 52 1842 GG 1 1 0 - 9 60 340 0 0 20.773922 289 60 10940 398 ENST00000225388.4 0.030201 1 CPD 1362 __UNKNOWN__ __UNKNOWN__ 17 28796428 28796428 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:28796428T>A ENST00000225719.4 + 0 8815 NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 gtttctctactggttgaataa 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U65090 CCDS11257.1, CCDS56025.1 17q11.2 2012-02-10 ENSG00000108582 ENSG00000108582 1362 3.4.17.22 2301 protein-coding gene gene with protein product metallocarboxypeptidase D 603102 NA 9628828, 9355738 Standard NM_001304 NM_001304 NA Approved GP180 uc002hfb.2 O75976 OTTHUMG00000132797 ENST00000225719.4:c.*4596T>A chr17.hg19:g.28796428T>A NA B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6 hg19 CCDS11257.1 0.02 8.384641 TACxGGT COVERED NOVEL CPD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256214.3 2 13.240186 KEEP 0 0 0 44 1394 TT 1 1 0 + 7 60 264 0 0 15.915976 240 60 8855 329 ENST00000225719.4 0.02834 1 SUZ12P 0 __UNKNOWN__ __UNKNOWN__ 17 29061941 29061941 __UNKNOWN__ RNA SNP T T C rs112064181 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:29061941T>C ENST00000582557.1 + 0 861 NA NA NA TAGATTTCTTTGAACTCGGAA 0.303 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000582557.1: chr17.hg19:g.29061941T>C NA hg19 0.02 3.101864 CTTxGAA COVERED NOVEL SUZ12P-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000444260.1 1 7.822027 KEEP 0 0 0 26 810 TT 0.999957 0.999956 0 + 5 27 163 0 0 9.613679 118 50 4293 190 ENST00000582557.1 0.04065 0.999999 SUZ12P 0 __UNKNOWN__ __UNKNOWN__ 17 29086657 29086657 __UNKNOWN__ RNA SNP A A G rs12103440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:29086657A>G ENST00000582557.1 + 0 1064 NA NA NA TATAAAATTAAGTTTAATGGA 0.333 NA A||| 810 0.161741 0.1354 0.1902 5008 , , NA 16091 0.1359 NA 0.1074 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000582557.1: chr17.hg19:g.29086657A>G NA hg19 0.02 -0.192978 TTAxGTT COVERED NOVEL SUZ12P-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000444260.1 0 3.008514 KEEP 0 0 0 10 297 AA 0.992708 0.454419 0 + 12 60 406 0 0 39.738848 10 60 366 33 ENST00000582557.1 0.545455 0.457757 EVI2B 2124 __UNKNOWN__ __UNKNOWN__ 17 29630970 29630970 __UNKNOWN__ 3'UTR SNP A A G rs3087591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:29630970A>G ENST00000330927.4 - 0 1812 NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B NA NA integral component of plasma membrane (GO:0005887) p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTTTCAGGGGAAAAAAAACTG 0.289 NA A||| 1672 0.333866 0.2352 0.4352 5008 , , NA 14511 0.4544 NA 0.2674 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 11 Whole gene deletion(8)|Unknown(3) soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11266.1 17q11.2 2011-08-11 ENSG00000185862 ENSG00000185862 2124 CD molecules 3500 protein-coding gene gene with protein product 158381 NA 1903357 Standard NM_006495 NM_006495 NA Approved D17S376, EVDB, CD361 uc002hgk.2 P34910 OTTHUMG00000132869 ENST00000330927.4:c.*311T>C chr17.hg19:g.29630970A>G NA B7Z4A7 hg19 CCDS11266.1 0.02 10.25226 GGGxAAA COVERED NOVEL EVI2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256349.2 1 18.955632 KEEP 0 0 0 63 1966 AA 1 1 0 - 13 60 507 0 0 34.980089 226 60 8221 384 ENST00000330927.4 0.054393 1 RAB11FIP4 84440 __UNKNOWN__ __UNKNOWN__ 17 29851024 29851024 __UNKNOWN__ Intron SNP G G T rs73988086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:29851024G>T ENST00000325874.8 + 9 1362 RAB11FIP4_ENST00000394744.2_Intron NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) NA NA cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032) cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038) ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGTCAAGCAGGCAGCGGCGCT 0.587 NA G||| 423 0.0844649 0.2224 0.0303 5008 , , NA 20703 0.0397 NA 0.0288 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 G 761,3639 287.8+/-279.5 49,663,1488 40 34 36 0.5 0 17 dbSNP_130 36 268,8332 99.3+/-160.8 7,254,4039 no intron RAB11FIP4 NM_032932.3 56,917,5527 TT,TG,GG 3.1163,17.2955,7.9154 29851024 1029,11971 2200 4300 6500 SO:0001627 intron_variant AB058724 CCDS11267.1 17q11.2 2013-01-10 ENSG00000131242 ENSG00000131242 84440 EF-hand domain containing 30267 protein-coding gene gene with protein product 611999 NA 11347906, 11468690 Standard NM_032932 NM_032932 NA Approved RAB11-FIP4, KIAA1821, MGC11316, FLJ00131 uc002hgn.1 Q86YS3 OTTHUMG00000132787 ENST00000325874.8:c.1133+10G>T chr17.hg19:g.29851024G>T NA Q52LI1|Q8N829|Q8NDT7|Q969D8 hg19 CCDS11267.1 0.02 2.000217 CAGxCAG COVERED NOVEL RAB11FIP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256195.2 0 5.417651 KEEP 0 0 0 18 636 GG 0.999859 0.994943 0 + 5 60 168 0 0 11.465736 62 60 2324 93 ENST00000325874.8 0.074627 0.995084 RAB11FIP4 84440 __UNKNOWN__ __UNKNOWN__ 17 29860769 29860769 __UNKNOWN__ 3'UTR SNP C C T rs9911071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:29860769C>T ENST00000325874.8 + 0 4162 NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) NA NA cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032) cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038) ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GAAAGGTGGGCGGAAGCAGCT 0.637 NA C||| 432 0.086262 0.2262 0.0331 5008 , , NA 16181 0.0397 NA 0.0268 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058724 CCDS11267.1 17q11.2 2013-01-10 ENSG00000131242 ENSG00000131242 84440 EF-hand domain containing 30267 protein-coding gene gene with protein product 611999 NA 11347906, 11468690 Standard NM_032932 NM_032932 NA Approved RAB11-FIP4, KIAA1821, MGC11316, FLJ00131 uc002hgn.1 Q86YS3 OTTHUMG00000132787 ENST00000325874.8:c.*2019C>T chr17.hg19:g.29860769C>T NA Q52LI1|Q8N829|Q8NDT7|Q969D8 hg19 CCDS11267.1 0.02 9.73455 GGGxGGA COVERED NOVEL RAB11FIP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256195.2 1 18.355168 KEEP 0 0 0 61 2109 CC 1 1 0 + 11 60 369 1 0 21.736696 287 60 9684 426 ENST00000325874.8 0.036913 1 ZNF207 7756 __UNKNOWN__ __UNKNOWN__ 17 30688415 30688415 __UNKNOWN__ Intron SNP G G T rs551928059 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:30688415G>T ENST00000394670.4 + 6 720 ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000577908.1_Intron|ZNF207_ENST00000394673.2_Intron|ZNF207_ENST00000321233.6_Intron|ZNF207_ENST00000342555.6_Intron NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 NA NA attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355) kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634) DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GATGTGAGAGGTATACAATAC 0.318 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 19316 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 84 68 73 NA NA 17 NA 30688415 692 1587 2279 SO:0001627 intron_variant AF046001 CCDS11271.1, CCDS32614.1, CCDS42294.1 17q11.2 2008-07-10 ENSG00000010244 ENSG00000010244 7756 Zinc fingers, C2H2-type 12998 protein-coding gene gene with protein product 603428 NA 9799612 Standard NM_001098507 NA Approved uc002hhj.4 O43670 OTTHUMG00000132810 ENST00000394670.4:c.552-72G>T chr17.hg19:g.30688415G>T NA A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7 hg19 CCDS42294.1 0.02 1.616559 GAGxTAT COVERED NOVEL ZNF207-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256249.2 1 4.514352 KEEP 0 0 0 15 500 GG 0.99649 0.996259 0 + 4 60 142 0 0 9.04482 84 60 3061 110 ENST00000394670.4 0.045455 0.999768 CDK5R1 8851 __UNKNOWN__ __UNKNOWN__ 17 30816988 30816988 __UNKNOWN__ 3'UTR SNP C C T rs548141431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:30816988C>T ENST00000313401.3 + 0 3039 NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) NA NA axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722) axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539) cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) GGATTAAGTTCGAGGTGGCTA 0.493 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 18952 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X80343 CCDS11273.1 17q12 2006-03-28 ENSG00000176749 ENSG00000176749 8851 1775 protein-coding gene gene with protein product 603460 NA 8090221 Standard NM_003885 NM_003885 NA Approved p35nck5a, Nck5a uc002hhn.3 Q15078 OTTHUMG00000132814 ENST00000313401.3:c.*1426C>T chr17.hg19:g.30816988C>T NA E1P664|Q5U0G3 hg19 CCDS11273.1 0.02 4.123562 GTTxGAG COVERED NOVEL CDK5R1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256264.1 1 8.425035 KEEP 0 0 0 28 895 CC 0.999997 0.999996 0 + 7 60 238 0 0 15.565473 113 60 3985 161 ENST00000313401.3 0.058333 0.999999 ASIC2 40 __UNKNOWN__ __UNKNOWN__ 17 31340444 31340444 __UNKNOWN__ 3'UTR SNP A A G rs28935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:31340444A>G ENST00000359872.6 - 0 2839 ASIC2_ENST00000225823.2_3'UTR NM_001094.4 NP_001085.2 Q16515 ASIC2_HUMAN acid-sensing (proton-gated) ion channel 2 NA NA central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248) NA Amiloride(DB00594) CCGAAGCCCCATGGGCAGCTT 0.602 NA A||| 1464 0.292332 0.3888 0.1037 5008 , , NA 17197 0.4137 NA 0.171 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL834182 CCDS11276.1, CCDS42296.1 17q11.2-q12 2012-02-23 2012-02-22 2012-02-22 ENSG00000108684 ENSG00000108684 40 Ion channels / Acid-sensing (proton-gated) ion channels 99 protein-coding gene gene with protein product degenerin 601784 amiloride-sensitive cation channel 1, neuronal ACCN, ACCN1 NA 8921408 Standard NM_183377, NM_001094 NM_183377 NA Approved ASIC2a, BNC1, BNaC1, hBNaC1, MDEG uc002hhu.3 Q16515 OTTHUMG00000132885 ENST00000359872.6:c.*539T>C chr17.hg19:g.31340444A>G NA E9PBX2|Q13553|Q6DJU1|Q8N3E2 hg19 CCDS42296.1 0.02 6.426067 CCCxTGG COVERED NOVEL ASIC2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447552.1 0 9.92734 KEEP 0 0 0 33 993 AA 0.999998 0.999998 0 - 11 60 368 0 0 24.557369 153 60 5421 224 ENST00000359872.6 0.067073 1 ASIC2 40 __UNKNOWN__ __UNKNOWN__ 17 32365986 32365986 __UNKNOWN__ Intron SNP G G A rs3744517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:32365986G>A ENST00000359872.6 - 1 1317 NM_001094.4 NP_001085.2 Q16515 ASIC2_HUMAN acid-sensing (proton-gated) ion channel 2 NA NA central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085) dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248) NA Amiloride(DB00594) GCTCCGTGTCGGACGTAGTAA 0.423 NA G||| 1339 0.267372 0.3782 0.1888 5008 , , NA 19812 0.3105 NA 0.2416 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834182 CCDS11276.1, CCDS42296.1 17q11.2-q12 2012-02-23 2012-02-22 2012-02-22 ENSG00000108684 ENSG00000108684 40 Ion channels / Acid-sensing (proton-gated) ion channels 99 protein-coding gene gene with protein product degenerin 601784 amiloride-sensitive cation channel 1, neuronal ACCN, ACCN1 NA 8921408 Standard NM_183377, NM_001094 NM_183377 NA Approved ASIC2a, BNC1, BNaC1, hBNaC1, MDEG uc002hhu.3 Q16515 OTTHUMG00000132885 ENST00000359872.6:c.555+117010C>T chr17.hg19:g.32365986G>A NA E9PBX2|Q13553|Q6DJU1|Q8N3E2 hg19 CCDS42296.1 0.02 9.655429 GTCxGAC COVERED NOVEL ASIC2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447552.1 1 9.028197 KEEP 0 0 0 30 1015 GG 0.999997 0.999997 0 - 18 60 677 0 0 49.38848 198 60 6777 293 ENST00000359872.6 0.083333 1 C17orf102 400591 __UNKNOWN__ __UNKNOWN__ 17 32903299 32903299 __UNKNOWN__ 3'UTR SNP C C T rs4795007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:32903299C>T ENST00000357754.1 - 0 1839 NM_207454.2 NP_997337.2 A2RUQ5 CQ102_HUMAN chromosome 17 open reading frame 102 NA NA central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1) 9 TTGGTGAAAGCTCTTGAACTT 0.398 NA C||| 2065 0.41234 0.5673 0.4366 5008 , , NA 20177 0.2907 NA 0.3787 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS42297.1 17q12 2009-02-11 ENSG00000197322 ENSG00000197322 400591 34412 protein-coding gene gene with protein product NA Standard NM_207454 NM_207454 NA Approved FLJ44815 uc002hie.1 A2RUQ5 OTTHUMG00000156883 ENST00000357754.1:c.*1247G>A chr17.hg19:g.32903299C>T NA A5PKX0|Q6ZTB3 hg19 CCDS42297.1 0.02 6.180204 AAGxTCT COVERED NOVEL C17orf102-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346435.1 2 6.6204 KEEP 0 0 0 22 786 CC 0.999879 0.999879 0 - 9 60 320 0 0 20.547322 182 60 6903 260 ENST00000357754.1 0.04712 1 CCT6B 10693 __UNKNOWN__ __UNKNOWN__ 17 33286664 33286664 __UNKNOWN__ Missense_Mutation SNP A A G rs2230552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33286664A>G ENST00000314144.5 - 2 258 c.143T>C c.(142-144)gTt>gCt p.V48A CCT6B_ENST00000436961.3_Missense_Mutation_p.V48A|CCT6B_ENST00000421975.3_Missense_Mutation_p.V48A NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 48 NA V -> A (in dbSNP:rs2230552). {ECO:0000269|PubMed:15489334}. chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283) chaperonin-containing T-complex (GO:0005832) ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TGCACCAGAAACAAGCCTGTT 0.443 NA A||| 1457 0.290935 0.1225 0.2968 5008 , , NA 18889 0.5278 NA 0.2018 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 A ALA/VAL,ALA/VAL,ALA/VAL 547,3859 246.2+/-254.9 27,493,1683 116 101 106 143,143,143 4.3 1 17 dbSNP_98 106 1829,6771 326.4+/-317.4 196,1437,2667 yes missense,missense,missense CCT6B NM_001193529.1,NM_001193530.1,NM_006584.3 64,64,64 223,1930,4350 GG,GA,AA 21.2674,12.4149,18.2685 probably-damaging,probably-damaging,probably-damaging 48/494,48/486,48/531 33286664 2376,10630 2203 4300 6503 SO:0001583 missense D78333 CCDS32617.1, CCDS54105.1, CCDS54106.1 17q 2011-09-02 ENSG00000132141 ENSG00000132141 10693 Heat Shock Proteins / Chaperonins 1621 protein-coding gene gene with protein product 610730 NA 8812458, 9013858 Standard NM_006584 NM_006584 NA Approved Cctz2, TSA303 uc002hig.3 Q92526 ENST00000314144.5:c.143T>C chr17.hg19:g.33286664A>G ENSP00000327191:p.Val48Ala NA B4DX20|B4DYB0|Q8TC34 hg19 CCDS32617.1 0.02 14.521547 GAAxCAA COVERED 635 0.2907509157509158 62 0.12601626016260162 103 0.2845303867403315 322 0.5629370629370629 148 0.19525065963060687 A 23.1 4.379366 0.82682 0.124149 0.212674 ENSG00000132141 ENST00000421975;ENST00000314144;ENST00000436961 T;T;T 0.80566 -1.39;-1.39;-1.39 4.29 4.29 0.51040 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 H 0.99415 4.555 0.09310 P 0.999999893117 D;D;D 0.76494 0.996;0.998;0.999 D;D;D 0.72982 0.973;0.973;0.979 T 0.20306 -1.0279 9 0.87932 D 0 -19.3143 11.7011 0.51571 1.0:0.0:0.0:0.0 rs2230552;rs11658803;rs17845802;rs17855522;rs17858764;rs52817302;rs59421844;rs11658803 48;48;48 B4DYB0;B4DX20;Q92526 .;.;TCPW_HUMAN A 48 ENSP00000398044:V48A;ENSP00000327191:V48A;ENSP00000400917:V48A ENSP00000327191:V48A V - 2 0 CCT6B 30310777 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 8.208000 0.89748 1.909000 0.55274 0.455000 0.32223 GTT NOVEL CCT6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448014.1 0 27.379005 KEEP 0 0 0 91 2844 AA 1 1 0 - 11 60 431 0 0 27.397986 320 60 11295 524 ENST00000314144.5 0.033233 1 ZNF830 91603 __UNKNOWN__ __UNKNOWN__ 17 33289046 33289046 __UNKNOWN__ Missense_Mutation SNP G G C rs3744355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33289046G>C ENST00000361952.3 + 1 498 c.461G>C c.(460-462)aGt>aCt p.S154T NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 154 NA S -> T (in dbSNP:rs3744355). {ECO:0000269|PubMed:15489334}. blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634) metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) TCAGGACTCAGTTTACTCCCC 0.532 NA G||| 637 0.127196 0.0333 0.1138 5008 , , NA 19736 0.3214 NA 0.0934 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 G THR/SER 184,4222 118.4+/-156.1 2,180,2021 70 73 72 461 4.7 1 17 dbSNP_107 72 834,7766 192.4+/-238.4 31,772,3497 yes missense ZNF830 NM_052857.3 58 33,952,5518 CC,CG,GG 9.6977,4.1761,7.8272 benign 154/373 33289046 1018,11988 2203 4300 6503 SO:0001583 missense AK055707 CCDS32618.1 17q12 2013-10-23 2008-03-25 2008-03-25 ENSG00000198783 ENSG00000198783 91603 28291 protein-coding gene gene with protein product orphan maintenance of genome 1 coiled-coil domain containing 16 CCDC16 NA 23066043 Standard NM_052857 NM_052857 NA Approved MGC20398, OMCG1 uc002hih.4 Q96NB3 OTTHUMG00000179771 ENST00000361952.3:c.461G>C chr17.hg19:g.33289046G>C ENSP00000354518:p.Ser154Thr NA Q96F60|Q96GZ5|Q9BU38 hg19 CCDS32618.1 0.02 11.551843 TCAxTTT COVERED 323 0.1478937728937729 21 0.042682926829268296 38 0.10497237569060773 196 0.34265734265734266 68 0.08970976253298153 G 2.252 -0.371313 0.05034 0.041761 0.096977 ENSG00000198783 ENST00000361952 T 0.15487 2.42 5.65 4.67 0.58626 . 0.296173 0.35235 N 0.003350 T 0.00012 0.0000 N 0.17474 0.49 0.48511 P 3.330000000000277E-4 B 0.09022 0.002 B 0.06405 0.002 T 0.46442 -0.9191 9 0.12766 T 0.61 -6.8146 12.4397 0.55617 0.0:0.1677:0.8323:0.0 rs3744355;rs17845297;rs17858132;rs52809710;rs3744355 154 Q96NB3 ZN830_HUMAN T 154 ENSP00000354518:S154T ENSP00000354518:S154T S + 2 0 ZNF830 30313159 1.000000 0.71417 0.975000 0.42487 0.797000 0.45037 4.666000 0.61554 1.604000 0.50143 0.655000 0.94253 AGT NOVEL ZNF830-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448018.1 1 43.016201 KEEP 0 0 0 143 5083 GG 1 1 0 + 17 60 624 0 0 42.976863 253 60 9458 508 ENST00000361952.3 0.062963 1 FNDC8 54752 __UNKNOWN__ __UNKNOWN__ 17 33454415 33454415 __UNKNOWN__ Silent SNP C C A rs2306508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33454415C>A ENST00000158009.5 + 2 679 c.564C>A c.(562-564)acC>acA p.T188T NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 188 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA nucleus (GO:0005634) breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) TTGAGCACACCGTCAACAATT 0.542 NA C||| 2226 0.444489 0.1044 0.5447 5008 , , NA 21013 0.7123 NA 0.4354 False NA ,,, NA NA NA 2504 0.5665 NA NA NA NA 0 C 702,3704 283.1+/-276.9 67,568,1568 103 92 95 564 -7.7 1 17 dbSNP_100 95 3647,4953 525.0+/-380.7 779,2089,1432 no coding-synonymous FNDC8 NM_017559.2 846,2657,3000 AA,AC,CC 42.407,15.9328,33.4384 188/325 33454415 4349,8657 2203 4300 6503 SO:0001819 synonymous_variant BC024002 CCDS11290.1 17q12 2013-02-11 ENSG00000073598 ENSG00000073598 54752 Fibronectin type III domain containing 25286 protein-coding gene gene with protein product NA 12477932 Standard NM_017559 XM_005257993 NA Approved DKFZp434H2215 uc002hix.3 Q8TC99 OTTHUMG00000132932 ENST00000158009.5:c.564C>A chr17.hg19:g.33454415C>A NA B2R9G6|Q9UFC2 hg19 CCDS11290.1 0.02 8.568239 CACxGTC COVERED NOVEL FNDC8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256459.2 1 14.280032 KEEP 0 1 33 59 2005 CC 1 1 0 + 8 60 300 0 0 18.463824 241 60 8034 373 ENST00000158009.5 0.032129 1 UNC45B 146862 __UNKNOWN__ __UNKNOWN__ 17 33513591 33513591 __UNKNOWN__ 3'UTR SNP A A C rs3744365 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33513591A>C ENST00000268876.5 + 0 2906 UNC45B_ENST00000394570.2_3'UTR|UNC45B_ENST00000433649.1_3'UTR|UNC45B_ENST00000378449.1_3'UTR NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) NA NA cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517) cytoplasm (GO:0005737)|cytosol (GO:0005829) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) AGCGACCCTCAGGGATGCTGG 0.493 NA A||| 855 0.170727 0.1006 0.3055 5008 , , NA 22340 0.1141 NA 0.173 False NA ,,, NA NA NA 2504 0.226 NA NA NA NA 0 A , 562,3844 251.2+/-258.0 42,478,1683 87 77 80 , -8 0 17 dbSNP_107 80 1738,6862 313.8+/-311.5 180,1378,2742 no utr-3,utr-3 UNC45B NM_001033576.1,NM_173167.2 , 222,1856,4425 CC,CA,AA 20.2093,12.7553,17.6841 , , 33513591 2300,10706 2203 4300 6503 SO:0001624 3_prime_UTR_variant AW755253 CCDS11292.1, CCDS45648.1 17q12 2008-02-05 2005-11-17 2005-11-17 ENSG00000141161 ENSG00000141161 146862 14304 protein-coding gene gene with protein product 611220 cardiomyopathy associated 4 CMYA4 NA 12356907 Standard NM_173167 NM_001267052 NA Approved UNC45 uc002hja.3 Q8IWX7 OTTHUMG00000132931 ENST00000268876.5:c.*13A>C chr17.hg19:g.33513591A>C NA Q495Q8|Q495Q9 hg19 CCDS11292.1 0.02 27.731264 CTCxGGG COVERED NOVEL UNC45B-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256458.2 3 16.5446 KEEP 0 0 0 55 1718 AA 1 1 0 + 21 60 749 1 0 44.493516 642 60 24136 884 ENST00000268876.5 0.031674 1 SLFN12 55106 __UNKNOWN__ __UNKNOWN__ 17 33748939 33748939 __UNKNOWN__ Intron SNP G G A rs2671817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33748939G>A ENST00000394562.1 - 4 1563 SLFN12_ENST00000304905.5_Intron|SLFN12_ENST00000452764.3_Intron Q8IYM2 SLN12_HUMAN schlafen family member 12 NA NA ATP binding (GO:0005524) breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTTGCCCCAGATCCCATAGA 0.517 NA A||| 1962 0.391773 0.2927 0.5432 5008 , , NA 18498 0.3562 NA 0.505 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001122 CCDS11295.1 17q12 2006-04-05 ENSG00000172123 ENSG00000172123 55106 25500 protein-coding gene gene with protein product 614955 NA 12477932 Standard NM_018042 NM_018042 NA Approved FLJ10260 uc002hji.4 Q8IYM2 OTTHUMG00000132952 ENST00000394562.1:c.1039+69C>T chr17.hg19:g.33748939G>A NA A8K711|Q9NP47 hg19 CCDS11295.1 0.02 6.671847 CCAxATC COVERED NOVEL SLFN12-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256491.1 5 3.346361 KEEP 0 1 34 23 822 GG 0.999909 0.999909 0 - 14 60 519 0 0 37.581415 156 60 5883 223 ENST00000394562.1 0.082353 1 SLFN12 55106 __UNKNOWN__ __UNKNOWN__ 17 33749919 33749919 __UNKNOWN__ Missense_Mutation SNP A A C rs1849733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33749919A>C ENST00000394562.1 - 4 652 c.129T>G c.(127-129)agT>agG p.S43R SLFN12_ENST00000304905.5_Missense_Mutation_p.S43R|SLFN12_ENST00000452764.3_Missense_Mutation_p.S43R Q8IYM2 SLN12_HUMAN schlafen family member 12 43 NA S -> R (in dbSNP:rs1849733). {ECO:0000269|PubMed:15489334}. ATP binding (GO:0005524) breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTCGTGAGACACTTTCATTCT 0.403 NA A||| 1884 0.376198 0.2685 0.5375 5008 , , NA 18787 0.3462 NA 0.4881 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 A ARG/SER 1433,2973 466.2+/-354.4 241,951,1011 142 121 128 129 -6.4 0 17 dbSNP_92 128 4207,4393 569.1+/-389.1 1014,2179,1107 yes missense SLFN12 NM_018042.3 110 1255,3130,2118 CC,CA,AA 48.9186,32.5238,43.3646 benign 43/579 33749919 5640,7366 2203 4300 6503 SO:0001583 missense AK001122 CCDS11295.1 17q12 2006-04-05 ENSG00000172123 ENSG00000172123 55106 25500 protein-coding gene gene with protein product 614955 NA 12477932 Standard NM_018042 NM_018042 NA Approved FLJ10260 uc002hji.4 Q8IYM2 OTTHUMG00000132952 ENST00000394562.1:c.129T>G chr17.hg19:g.33749919A>C ENSP00000378063:p.Ser43Arg NA A8K711|Q9NP47 hg19 CCDS11295.1 0.02 24.103617 GACxCTT COVERED 910 0.4166666666666667 134 0.27235772357723576 182 0.5027624309392266 201 0.3513986013986014 393 0.5184696569920845 a 2.100 -0.406307 0.04832 0.325238 0.489186 ENSG00000172123 ENST00000394562;ENST00000304905;ENST00000452764;ENST00000447040;ENST00000445092 T;T;T;T;T 0.28666 3.93;3.93;3.93;2.02;1.6 3.2 -6.41 0.01938 . . . . . T 0.00012 0.0000 N 0.11313 0.125 0.80722 P 0.0 B 0.19331 0.035 B 0.08055 0.003 T 0.47341 -0.9125 8 0.09338 T 0.73 . 3.679 0.08304 0.1948:0.0:0.3113:0.4939 rs1849733;rs17548986;rs17846141;rs17859149;rs52813912;rs56957697;rs1849733 43 Q8IYM2 SLN12_HUMAN R 43 ENSP00000378063:S43R;ENSP00000302077:S43R;ENSP00000394903:S43R;ENSP00000398315:S43R;ENSP00000404175:S43R ENSP00000302077:S43R S - 3 2 SLFN12 30774032 0.000000 0.05858 0.000000 0.03702 0.155000 0.21991 -2.082000 0.01365 -0.829000 0.04268 0.358000 0.22013 AGT NOVEL SLFN12-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256491.1 4 11.204354 KEEP 0 5 174 98 3014 AA 1 1 0 - 23 60 776 0 0 45.836113 622 60 22313 914 ENST00000394562.1 0.035659 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 33787357 33787357 __UNKNOWN__ IGR SNP G G C rs7219934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33787357G>C NA NA SLFN13 (11501 upstream) : SLFN12L (13350 downstream) NA NA NA ATACTCCACAGAATGCACAAC 0.473 NA G||| 1832 0.365815 0.4402 0.3343 5008 , , NA 16760 0.3958 NA 0.4165 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.33787357G>C NA hg19 0.02 -0.28947 ACAxAAT COVERED NOVEL 0 1 2.407797 KEEP 0 0 0 8 279 GG 0.99257 0.755234 0 3 60 114 0 0 8.466245 30 60 1086 42 0.090909 0.760887 SLFN12L 100506736 __UNKNOWN__ __UNKNOWN__ 17 33814758 33814758 __UNKNOWN__ Start_Codon_SNP SNP T T C rs4796089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33814758T>C ENST00000260908.7 - 1 118 c.1A>G c.(1-3)Atg>Gtg p.M1V SLFN12L_ENST00000361112.4_Intron|SLFN12L_ENST00000449046.1_Missense_Mutation_p.M32V NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 1 NA integral component of membrane (GO:0016021) ATP binding (GO:0005524) breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 GCGAGGTCCATGTCTGCGCAC 0.483 NA T||| 559 0.111621 0.1203 0.085 5008 , , NA 17136 0.1885 NA 0.1034 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001582 initiator_codon_variant AK172761 CCDS56026.1 17q12 2011-05-24 ENSG00000205045 100506736 33920 protein-coding gene gene with protein product 614956 NA 9846487 Standard XM_496206 NM_001195790 NA Approved uc021tuy.1 Q6IEE8 ENST00000260908.7:c.1A>G chr17.hg19:g.33814758T>C ENSP00000437635:p.Met1Val NA F5H6G3 hg19 CCDS56026.1 0.02 26.989034 CCAxGTC COVERED 290 0.13278388278388278 64 0.13008130081300814 30 0.08287292817679558 125 0.21853146853146854 71 0.09366754617414248 T 1.899 -0.453584 0.04540 . . ENSG00000205045 ENST00000260908;ENST00000449046 T;T 0.03524 3.94;3.9 0.745 -1.49 0.08718 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 . . . . . . T 0.46679 -0.9174 5 0.62326 D 0.03 . . . . rs4796089;rs59928007;rs4796089 . . . V 1;32 ENSP00000437635:M1V;ENSP00000389348:M32V ENSP00000437635:M1V M - 1 0 SLFN12L 30838871 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 -1.630000 0.02028 -1.636000 0.01533 -1.073000 0.02249 ATG NOVEL SLFN12L-004 NOVEL not_organism_supported|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000395748.2 1 40.319249 KEEP 0 0 0 134 4187 TT 1 1 0 Missense_Mutation - 22 60 801 0 0 49.314671 600 70 22151 980 ENST00000260908.7 0.03537 1 SLFN12L 100506736 __UNKNOWN__ __UNKNOWN__ 17 33818130 33818130 __UNKNOWN__ Intron SNP G G A rs17631940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33818130G>A ENST00000361112.4 - 3 980 Q6IEE8 SN12L_HUMAN schlafen family member 12-like NA NA integral component of membrane (GO:0016021) ATP binding (GO:0005524) breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 GCTGCAAGATGACCATTTGTG 0.522 NA G||| 2088 0.416933 0.5696 0.3963 5008 , , NA 18947 0.2679 NA 0.5179 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK172761 CCDS56026.1 17q12 2011-05-24 ENSG00000205045 100506736 33920 protein-coding gene gene with protein product 614956 NA 9846487 Standard XM_496206 NM_001195790 NA Approved uc021tuy.1 Q6IEE8 ENST00000361112.4:c.102-10916C>T chr17.hg19:g.33818130G>A NA F5H6G3 hg19 0.02 4.111465 GATxACC COVERED NOVEL SLFN12L-005 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000399529.1 2 4.514269 KEEP 0 0 0 15 507 GG 0.99649 0.996483 0 - 5 60 172 0 0 10.759303 105 60 3834 133 ENST00000361112.4 0.045455 0.999993 SLFN14 342618 __UNKNOWN__ __UNKNOWN__ 17 33876083 33876083 __UNKNOWN__ Silent SNP G G A rs1001441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33876083G>A ENST00000415846.3 - 4 1949 c.1914C>T c.(1912-1914)acC>acT p.T638T NM_001129820.1 NP_001123292.1 P0C7P3 SLN14_HUMAN schlafen family member 14 638 NA ATP binding (GO:0005524) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3) 9 CTTGGCAGGTGGTTTGTTGGC 0.433 NA G||| 950 0.189696 0.2231 0.1902 5008 , , NA 21612 0.2976 NA 0.0954 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 G 291,1093 29,233,430 76 64 68 1914 -0.2 0 17 dbSNP_86 68 276,2906 11,254,1326 no coding-synonymous SLFN14 NM_001129820.1 40,487,1756 AA,AG,GG 8.6738,21.026,12.4179 638/913 33876083 567,3999 692 1591 2283 SO:0001819 synonymous_variant CCDS45650.1 17q12 2009-09-22 ENSG00000236320 342618 32689 protein-coding gene gene with protein product 614958 NA 9846487 Standard NM_001129820 NM_001129820 NA Approved uc010ctu.1 P0C7P3 ENST00000415846.3:c.1914C>T chr17.hg19:g.33876083G>A NA B2RTW9 hg19 CCDS45650.1 0.02 11.050362 GGTxGTT COVERED NOVEL SLFN14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448928.1 4 9.932165 KEEP 0 0 0 33 1163 GG 0.999998 0.999998 0 - 9 60 336 1 0 20.90062 252 60 9142 347 ENST00000415846.3 0.034483 1 SLFN14 342618 __UNKNOWN__ __UNKNOWN__ 17 33884804 33884804 __UNKNOWN__ Missense_Mutation SNP T T C rs10512472 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:33884804T>C ENST00000415846.3 - 1 313 c.278A>G c.(277-279)cAg>cGg p.Q93R NM_001129820.1 NP_001123292.1 P0C7P3 SLN14_HUMAN schlafen family member 14 93 NA Q -> R (in dbSNP:rs10512472). ATP binding (GO:0005524) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3) 9 AAGGTATTTCTGTGAACCTGA 0.433 NA T||| 1178 0.235224 0.2284 0.2522 5008 , , NA 20357 0.3056 NA 0.172 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 T ARG/GLN 288,1096 36,216,440 88 71 76 http://www.ncbi.nlm.nih.gov/pubmed?term 278 4.3 1 17 dbSNP_119 76 549,2633 44,461,1086 yes missense SLFN14 NM_001129820.1 43 80,677,1526 CC,CT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 17.2533,20.8092,18.3311 possibly-damaging 93/913 33884804 837,3729 692 1591 2283 SO:0001583 missense CCDS45650.1 17q12 2009-09-22 ENSG00000236320 342618 32689 protein-coding gene gene with protein product 614958 NA 9846487 Standard NM_001129820 NM_001129820 NA Approved uc010ctu.1 P0C7P3 ENST00000415846.3:c.278A>G chr17.hg19:g.33884804T>C ENSP00000391101:p.Gln93Arg NA B2RTW9 hg19 CCDS45650.1 0.02 14.531412 TTCxGTG COVERED 505 0.23122710622710624 111 0.22560975609756098 95 0.26243093922651933 179 0.3129370629370629 120 0.158311345646438 T 14.25 2.478941 0.44044 0.208092 0.172533 ENSG00000236320 ENST00000415846 T 0.01998 4.51 4.28 4.28 0.50868 . . . . . T 0.00012 0.0000 L 0.45422 1.42 0.47621 P 5.209999999999937E-4 P 0.43094 0.799 B 0.34722 0.188 T 0.52646 -0.8548 8 0.62326 D 0.03 -3.1007 9.9792 0.41802 0.0:0.0:0.0:1.0 rs10512472;rs61277257;rs10512472 93 P0C7P3 SLN14_HUMAN R 93 ENSP00000391101:Q93R ENSP00000391101:Q93R Q - 2 0 SLFN14 30908917 0.985000 0.35326 1.000000 0.80357 0.998000 0.95712 1.662000 0.37418 1.908000 0.55244 0.533000 0.62120 CAG NOVEL SLFN14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448928.1 5 14.745446 KEEP 0 0 0 49 1568 TT 1 1 0 - 16 60 567 0 0 35.428185 370 60 13782 503 ENST00000415846.3 0.041451 1 C17orf66 0 __UNKNOWN__ __UNKNOWN__ 17 34182341 34182341 __UNKNOWN__ Missense_Mutation SNP G G A rs2306630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34182341G>A ENST00000311880.2 - 15 1587 c.1439C>T c.(1438-1440)tCt>tTt p.S480F C17orf66_ENST00000592980.1_Missense_Mutation_p.S440F NM_152781.2 NP_689994.2 A2RTY3 HEAT9_HUMAN 480 NA S -> F (in dbSNP:rs2306630). {ECO:0000269|PubMed:14702039}. hematopoietic progenitor cell differentiation (GO:0002244) p.S480F(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CTCATATACAGAGAGAACCTT 0.428 NA A||| 919 0.183506 0.1914 0.1988 5008 , , NA 21248 0.3075 NA 0.1113 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A PHE/SER 873,3533 743.2+/-411.4 98,677,1428 92 89 90 1439 3 0 17 dbSNP_100 90 1106,7494 768.3+/-407.6 71,964,3265 yes missense C17orf66 NM_152781.2 155 169,1641,4693 AA,AG,GG 12.8605,19.8139,15.2161 benign 480/571 34182341 1979,11027 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000311880.2:c.1439C>T chr17.hg19:g.34182341G>A ENSP00000309560:p.Ser480Phe NA B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46 hg19 CCDS11299.1 0.02 9.997724 ACAxAGA COVERED 439 0.20100732600732601 95 0.19308943089430894 76 0.20994475138121546 182 0.3181818181818182 86 0.11345646437994723 A 0.010 -1.766657 0.00651 0.198139 0.128605 ENSG00000172653 ENST00000311880 T 0.41065 1.01 4.08 2.99 0.34606 . 0.309092 0.23631 N 0.046139 T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.39961 -0.9588 9 0.07175 T 0.84 . 6.0215 0.19632 0.785:0.0:0.215:0.0 rs2306630;rs57240152;rs2306630 440;480 A2RTY3-3;A2RTY3 .;CQ066_HUMAN F 480 ENSP00000309560:S480F ENSP00000309560:S480F S - 2 0 C17orf66 31206454 0.008000 0.16893 0.002000 0.10522 0.006000 0.05464 0.087000 0.14958 0.235000 0.21160 -1.434000 0.01081 TCT NOVEL C17orf66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256487.1 3 13.242932 KEEP 0 0 0 44 1558 GG 1 1 0 - 9 60 313 0 0 18.202324 281 60 10710 395 ENST00000311880.2 0.031034 1 C17orf66 0 __UNKNOWN__ __UNKNOWN__ 17 34195739 34195739 __UNKNOWN__ Missense_Mutation SNP T T C rs77630516 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34195739T>C ENST00000311880.2 - 1 156 c.8A>G c.(7-9)tAt>tGt p.Y3C C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Missense_Mutation_p.Y3C NM_152781.2 NP_689994.2 A2RTY3 HEAT9_HUMAN 3 NA Y -> C (in Ref. 3; AAI32682). {ECO:0000305}. hematopoietic progenitor cell differentiation (GO:0002244) p.Y3C(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGATTTTTCATAGGCCATCTT 0.532 NA T||| 127 0.0253594 0.003 0.0086 5008 , , NA 19213 0.0952 NA 0.0119 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T CYS/TYR 18,4388 25.3+/-52.1 0,18,2185 112 92 98 8 -5.6 0 17 dbSNP_131 98 221,8379 92.3+/-154.4 3,215,4082 yes missense C17orf66 NM_152781.2 194 3,233,6267 CC,CT,TT 2.5698,0.4085,1.8376 benign 3/571 34195739 239,12767 2203 4300 6503 SO:0001583 missense NA NA NA NA ENST00000311880.2:c.8A>G chr17.hg19:g.34195739T>C ENSP00000309560:p.Tyr3Cys NA B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46 hg19 CCDS11299.1 0.02 13.826157 TCAxAGG COVERED 80 0.03663003663003663 3 0.006097560975609756 5 0.013812154696132596 64 0.11188811188811189 8 0.010554089709762533 T 5.654 0.305310 0.10678 0.004085 0.025698 ENSG00000172653 ENST00000311880 T 0.46451 0.87 4.15 -5.58 0.02512 . 1.565530 0.03792 N 0.262968 T 0.00412 0.0013 N 0.17082 0.46 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.08055 0.003;0.001 T 0.05818 -1.0862 9 0.42905 T 0.14 . 2.0125 0.03491 0.1345:0.3517:0.2751:0.2388 . 3;3 A2RTY3-3;A2RTY3 .;CQ066_HUMAN C 3 ENSP00000309560:Y3C ENSP00000309560:Y3C Y - 2 0 C17orf66 31219852 0.000000 0.05858 0.021000 0.16686 0.016000 0.09150 -1.997000 0.01470 -1.344000 0.02216 -1.931000 0.00510 TAT NOVEL C17orf66-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256487.1 1 14.140658 KEEP 0 0 0 47 1442 TT 1 1 0 - 15 60 537 0 0 34.310186 327 60 11888 482 ENST00000311880.2 0.04386 1 CCL5 6352 __UNKNOWN__ __UNKNOWN__ 17 34207405 34207405 __UNKNOWN__ 5'UTR SNP G G C rs2280788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34207405G>C ENST00000293272.3 - 0 107 AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Intron NM_002985.2 NP_002976.2 P13501 CCL5_HUMAN chemokine (C-C motif) ligand 5 NA NA activation of phospholipase D activity (GO:0031584)|calcium ion transport (GO:0006816)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular protein complex assembly (GO:0043623)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|eosinophil chemotaxis (GO:0048245)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of T cell apoptotic process (GO:0070233)|negative regulation of viral genome replication (GO:0045071)|neutrophil activation (GO:0042119)|positive chemotaxis (GO:0050918)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of innate immune response (GO:0045089)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell apoptotic process (GO:0070234)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of translational initiation (GO:0045948)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|positive regulation of viral genome replication (GO:0045070)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein tetramerization (GO:0051262)|regulation of chronic inflammatory response (GO:0002676)|regulation of insulin secretion (GO:0050796)|regulation of neuron death (GO:1901214)|regulation of T cell activation (GO:0050863)|response to toxic substance (GO:0009636)|response to virus (GO:0009615) extracellular region (GO:0005576)|extracellular space (GO:0005615) CCR1 chemokine receptor binding (GO:0031726)|CCR4 chemokine receptor binding (GO:0031729)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|chemokine receptor antagonist activity (GO:0046817)|chemokine receptor binding (GO:0042379)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase activator activity (GO:0016004)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|receptor signaling protein tyrosine kinase activator activity (GO:0030298) breast(1)|kidney(1)|lung(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0183) AGGGCCAGTTGAGGGGCATCC 0.507 NA OREG0001920 type=REGULATORY POLYMORPHISM|Gene=CCL5|EvidenceSubtype=Resequencing; Transient transfection luciferase assay G||| 127 0.0253594 0.003 0.0086 5008 , , NA 20420 0.0952 NA 0.0119 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 GRCh37 CR994614 CCL5 R rs2280788 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF043341 CCDS11300.1 17q11.2-q12 2014-04-17 2002-08-22 2002-08-23 ENSG00000161570 ENSG00000271503 6352 Chemokine ligands, Endogenous ligands 10632 protein-coding gene gene with protein product T-cell specific protein p288, T-cell specific RANTES protein, SIS-delta, regulated upon activation, normally T-expressed, and presumably secreted, beta-chemokine RANTES, small inducible cytokine subfamily A (Cys-Cys), member 5 187011 small inducible cytokine A5 (RANTES) D17S136E, SCYA5 NA 1691736 Standard NM_002985 NM_002985 NA Approved RANTES, SISd, TCP228, MGC17164 uc002hkf.3 P13501 OTTHUMG00000188396 ENST00000293272.3:c.-96C>G chr17.hg19:g.34207405G>C 845 O43646|Q0QVW8|Q4ZGJ1|Q9NYA2|Q9UBG2|Q9UC99 hg19 CCDS11300.1 0.02 4.728882 GTTxAGG COVERED NOVEL CCL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256486.3 0 6.922452 KEEP 0 0 0 23 802 GG 0.999892 0.999892 0 - 5 60 187 0 0 11.691587 137 60 5220 194 ENST00000293272.3 0.035211 1 CCL3 6348 __UNKNOWN__ __UNKNOWN__ 17 34416536 34416536 __UNKNOWN__ Missense_Mutation SNP C C T rs1130374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34416536C>T ENST00000225245.5 - 2 263 c.181G>A c.(181-183)Ggt>Agt p.G61S AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA NM_002983.2 NP_002974.1 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 61 NA astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622) calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672) breast(2)|lung(3)|urinary_tract(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TACATGACACCGGGCTTGGAG 0.582 NA c||| 18 0.00359425 0.0136 0.0 5008 , , NA 19071 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T SER/GLY 41,4365 1,39,2163 152 148 149 181 4.4 0 17 dbSNP_86 149 1,8599 0,1,4299 no missense CCL3 NM_002983.2 56 1,40,6462 TT,TC,CC 0.0116,0.9305,0.3229 benign 61/93 34416536 42,12964 2203 4300 6503 SO:0001583 missense M23178 CCDS11307.1 17q12 2014-05-06 2002-08-22 2002-08-23 ENSG00000006075 ENSG00000277632 6348 Chemokine ligands, Endogenous ligands 10627 protein-coding gene gene with protein product 182283 small inducible cytokine A3 (homologous to mouse Mip-1a) SCYA3 NA Standard NM_002983 NM_002983 NA Approved G0S19-1, LD78ALPHA, MIP-1-alpha uc002hkv.3 P10147 OTTHUMG00000188413 ENST00000225245.5:c.181G>A chr17.hg19:g.34416536C>T ENSP00000225245:p.Gly61Ser NA hg19 CCDS11307.1 0.02 2.015571 CACxGGG COVERED 4 0.0018315018315018315 4 0.008130081300813009 0 0.0 0 0.0 0 0.0 . 13.99 2.401622 0.42613 0.009305 1.16E-4 ENSG00000006075 ENST00000225245 T 0.15487 2.42 5.4 4.44 0.53790 CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3); 0.141907 0.44097 D 0.000484 T 0.10035 0.0246 . . . 0.21256 N 0.999748 B 0.18968 0.032 B 0.24006 0.05 T 0.15150 -1.0447 9 0.51188 T 0.08 . 10.2668 0.43460 0.0:0.9116:0.0:0.0884 rs1130374 61 P10147 CCL3_HUMAN S 61 ENSP00000225245:G61S ENSP00000225245:G61S G - 1 0 CCL3 31440649 0.005000 0.15991 0.000000 0.03702 0.817000 0.46193 1.970000 0.40520 1.545000 0.49373 -0.132000 0.14878 GGT NOVEL CCL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256581.1 0 3.611526 KEEP 1 0 0 12 403 CC 0.993634 0.993403 0 - 5 25 184 0 0 12.452495 83 60 3020 108 ENST00000225245.5 0.056818 0.999768 CCL4 6351 __UNKNOWN__ __UNKNOWN__ 17 34431403 34431403 __UNKNOWN__ Intron SNP G G A rs1719144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34431403G>A ENST00000394495.1 + 1 155 CCL4_ENST00000250151.4_Intron P13236 CCL4_HUMAN chemokine (C-C motif) ligand 4 NA NA cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|establishment or maintenance of cell polarity (GO:0007163)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of natural killer cell chemotaxis (GO:2000503)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|signal transduction (GO:0007165) extracellular region (GO:0005576)|extracellular space (GO:0005615) CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemokine activity (GO:0008009)|cytokine activity (GO:0005125)|identical protein binding (GO:0042802) endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGCTATTTCGAGTCAAGGTG 0.507 NA G||| 883 0.176318 0.0242 0.1124 5008 , , NA 25063 0.2996 NA 0.2465 False NA ,,, NA NA NA 2504 0.228 NA NA NA Colon(139;824 1752 21188 21615 24765) NA 0 G 215,4191 15,185,2003 254 225 235 1.5 0 17 dbSNP_89 235 1914,6686 228,1458,2614 no intron CCL4 NM_002984.2 243,1643,4617 AA,AG,GG 22.2558,4.8797,16.3694 34431403 2129,10877 2203 4300 6503 SO:0001627 intron_variant M23502 CCDS11308.1 17q21-q23 2014-05-06 2002-08-22 2002-08-23 ENSG00000129277 ENSG00000275302 6351 Chemokine ligands, Endogenous ligands 10630 protein-coding gene gene with protein product 182284 small inducible cytokine A4 (homologous to mouse Mip-1b) LAG1, SCYA4 NA 1972563 Standard NM_002984 NM_002984 NA Approved MIP-1-beta, Act-2, AT744.1 uc002hkw.1 P13236 OTTHUMG00000188414 ENST00000394495.1:c.76+29G>A chr17.hg19:g.34431403G>A NA P22617|Q13704|Q3SXL8|Q6FGI8 hg19 0.02 19.965215 TTCxAGT COVERED NOVEL CCL4-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450615.1 0 14.446471 KEEP 0 0 0 48 1644 GG 1 1 0 + 16 60 575 0 0 33.909866 520 60 19197 670 ENST00000394495.1 0.029851 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 34433029 34433029 __UNKNOWN__ IGR SNP A A G rs1634518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34433029A>G NA NA CCL4 (15 upstream) : RN7SL301P (4513 downstream) NA NA NA TGTGATTTTAATTTGATTTGG 0.343 NA A||| 870 0.173722 0.0121 0.1124 5008 , , NA 20540 0.3036 NA 0.2445 False NA ,,, NA NA NA 2504 0.229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.34433029A>G NA hg19 0.02 7.332229 TTAxTTT COVERED NOVEL 0 2 3.30871 KEEP 0 0 0 11 315 AA 0.993072 0.993072 0 8 60 304 0 0 20.360468 155 60 5677 178 0.04908 1 ZNHIT3 9326 __UNKNOWN__ __UNKNOWN__ 17 34849697 34849697 __UNKNOWN__ Intron SNP C C G rs2277662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34849697C>G ENST00000590858.1 + 2 82 ZNHIT3_ENST00000490126.2_Intron|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000225410.4_Intron|ZNHIT3_ENST00000592616.1_Intron Q15649 ZNHI3_HUMAN zinc finger, HIT-type containing 3 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966) lung(1)|pancreas(1)|prostate(1) 3 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0188) TTATCCTGTTCAAGTAGTGGT 0.413 NA G||| 1253 0.2502 0.3525 0.1571 5008 , , NA 19285 0.3244 NA 0.1541 False NA ,,, NA NA NA 2504 0.2004 NA NA NA Pancreas(89;112 2361 26810) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L40410 CCDS11312.1, CCDS62156.1 17q21.1 2014-04-10 2010-09-15 2005-09-08 ENSG00000108278 ENSG00000273611 9326 Zinc fingers, HIT-type 12309 protein-coding gene gene with protein product 604500 thyroid hormone receptor interactor 3, zinc finger, HIT type 3 TRIP3 NA 7776974 Standard NM_004773 NM_004773 NA Approved uc002hms.1 Q15649 OTTHUMG00000188436 ENST00000590858.1:c.-89-3753C>G chr17.hg19:g.34849697C>G NA A8K493|K7EQP1|Q8WVJ3 hg19 0.02 9.308356 GTTxAAG COVERED NOVEL ZNHIT3-008 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450958.2 2 14.145832 KEEP 0 0 0 47 1653 CC 1 1 0 + 7 60 272 0 0 17.215331 203 60 7756 329 ENST00000590858.1 0.033333 1 PIGW 284098 __UNKNOWN__ __UNKNOWN__ 17 34893326 34893326 __UNKNOWN__ Missense_Mutation SNP A A G rs72818370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:34893326A>G ENST00000592983.1 + 2 956 c.376A>G c.(376-378)Aat>Gat p.N126D PIGW_ENST00000328396.2_Missense_Mutation_p.N126D|MYO19_ENST00000590081.1_Intron Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 126 NA N -> D (in Ref. 2; BAC04413). {ECO:0000305}. C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) transferase activity, transferring acyl groups (GO:0016746) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATCAGAATACAATCCAGCCAT 0.413 NA A||| 377 0.0752796 0.0038 0.0634 5008 , , NA 20758 0.1617 NA 0.0845 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 A ASP/ASN 46,4360 48.2+/-83.0 0,46,2157 215 205 209 376 2.4 0.4 17 dbSNP_130 209 457,8143 136.5+/-193.6 12,433,3855 yes missense PIGW NM_178517.3 23 12,479,6012 GG,GA,AA 5.314,1.044,3.8674 benign 126/505 34893326 503,12503 2203 4300 6503 SO:0001583 missense AB097818 CCDS11313.1 17q21.1 2014-05-06 2006-06-28 ENSG00000184886 ENSG00000277161 284098 Phosphatidylinositol glycan anchor biosynthesis 23213 protein-coding gene gene with protein product 610275 phosphatidylinositol glycan, class W NA 14517336, 12714589 Standard NM_178517 XM_005257238 NA Approved Gwt1, FLJ37433 uc002hmz.1 Q7Z7B1 OTTHUMG00000188438 ENST00000592983.1:c.376A>G chr17.hg19:g.34893326A>G ENSP00000468778:p.Asn126Asp NA Q8N9G3 hg19 CCDS11313.1 0.02 17.094156 TACxATC COVERED 169 0.07738095238095238 3 0.006097560975609756 19 0.052486187845303865 82 0.14335664335664336 65 0.08575197889182058 A 10.76 1.441338 0.25900 0.01044 0.05314 ENSG00000184886 ENST00000328396 . . . 5.77 2.42 0.29668 . 0.554960 0.19174 N 0.120876 T 0.00210 0.0006 L 0.29908 0.895 0.09310 N 1 B 0.17667 0.023 B 0.15052 0.012 T 0.07539 -1.0767 8 . . . 0.1183 9.365 0.38219 0.7206:0.0:0.2794:0.0 . 126 Q7Z7B1 PIGW_HUMAN D 126 . . N + 1 0 PIGW 31967439 0.997000 0.39634 0.414000 0.26521 0.855000 0.48748 2.399000 0.44495 0.140000 0.18849 -0.250000 0.11733 AAT NOVEL PIGW-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451318.1 4 39.715924 KEEP 0 0 0 132 4097 AA 1 1 0 + 13 60 437 0 0 24.281795 444 60 16207 702 ENST00000592983.1 0.028446 1 ACACA 31 __UNKNOWN__ __UNKNOWN__ 17 35540524 35540524 __UNKNOWN__ Intron SNP A A G rs9905678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:35540524A>G ENST00000394406.2 - 40 4856 ACACA_ENST00000353139.5_Intron|ACACA_ENST00000360679.3_Intron|ACACA_ENST00000335166.5_Intron NM_198836.1 NP_942133.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha NA NA acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) caatcccagcactttgggagg 0.488 NA A||| 1843 0.368011 0.2443 0.3847 5008 , , NA 15192 0.2381 NA 0.6581 False NA ,,, NA NA NA 2504 0.3589 NA NA NA Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U19822 CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1 17q21 2014-05-06 2010-04-30 ENSG00000132142 ENSG00000278540 31 6.4.1.2 84 protein-coding gene gene with protein product acetyl-CoA carboxylase 1 200350 acetyl-Coenzyme A carboxylase alpha ACAC, ACC NA Standard NM_198836 NM_198837 NA Approved ACC1 uc002hno.3 Q13085 OTTHUMG00000188463 ENST00000394406.2:c.4666-2227T>C chr17.hg19:g.35540524A>G NA B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3 hg19 CCDS11317.1 0.02 -0.087729 AGCxCTT UNCOVERED NOVEL ACACA-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256696.1 2 2.405418 KEEP 1 0 0 8 233 AA 0 0 0 - 5 60 181 0 0 17.475058 5 60 175 21 ENST00000394406.2 0.5 0.099721 SYNRG 11276 __UNKNOWN__ __UNKNOWN__ 17 35937637 35937637 __UNKNOWN__ Intron SNP T T C rs12602536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:35937637T>C ENST00000394378.2 - 7 615 SYNRG_ENST00000588194.1_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.T222A|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000339208.6_Missense_Mutation_p.T222A|SYNRG_ENST00000345615.4_Intron NM_198882.1 NP_942583.1 Q9UMZ2 SYNRG_HUMAN synergin, gamma NA NA endocytosis (GO:0006897)|intracellular protein transport (GO:0006886) AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509) p.T222A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACTTCAGAAGTATTTAATTTA 0.428 NA T||| 849 0.169529 0.0877 0.2176 5008 , , NA 16631 0.1389 NA 0.2097 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 1 Substitution - Missense(1) prostate(1) T ,,,,ALA/THR,, 442,3964 213.5+/-233.1 19,404,1780 154 161 159 ,,,,664,, 2 0.9 17 dbSNP_120 159 1525,7075 288.1+/-298.6 127,1271,2902 yes intron,intron,intron,intron,missense,intron,intron SYNRG NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1 ,,,,58,, 146,1675,4682 CC,CT,TT 17.7326,10.0318,15.1238 ,,,,benign,, ,,,,222/1315,, 35937637 1967,11039 2203 4300 6503 SO:0001627 intron_variant AF169548 CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1 17q12 2014-04-16 2009-07-20 2009-07-20 ENSG00000006114 ENSG00000275066 11276 557 protein-coding gene gene with protein product gamma-synergin, adaptor-related protein complex 1 gamma subunit-binding protein 1 607291 AP1 gamma subunit binding protein 1 AP1GBP1 NA 10477754 Standard NM_007247 XM_005256980 NA Approved SYNG, MGC104959 uc010wdf.2 Q9UMZ2 OTTHUMG00000188473 ENST00000394378.2:c.590-1121A>G chr17.hg19:g.35937637T>C NA A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17 hg19 CCDS54114.1 0.02 11.781556 AAGxATT COVERED 353 0.16163003663003664 40 0.08130081300813008 72 0.19889502762430938 77 0.1346153846153846 164 0.21635883905013192 T 11.99 1.802382 0.31869 0.100318 0.177326 ENSG00000006114 ENST00000346661;ENST00000345615;ENST00000394379 T 0.30182 1.54 5.46 1.97 0.26223 . 0.346213 0.30302 N 0.009933 T 0.00012 0.0000 L 0.41236 1.265 0.35584 P 0.193465 P;B;B 0.37207 0.587;0.004;0.004 B;B;B 0.32724 0.151;0.006;0.006 T 0.28996 -1.0026 9 0.09590 T 0.72 -9.3107 4.795 0.13269 0.291:0.0787:0.0:0.6303 rs12602536;rs52810147;rs59102053;rs12602536 323;222;222 A8MYE0;Q9UMZ2-5;Q9UMZ2 .;.;SYNRG_HUMAN A 222;222;323 ENSP00000005279:T222A ENSP00000315722:T222A T - 1 0 SYNRG 33011750 0.997000 0.39634 0.931000 0.37212 0.899000 0.52679 0.400000 0.20932 0.320000 0.23234 0.482000 0.46254 ACT NOVEL SYNRG-008 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000359433.1 0 11.427434 KEEP 0 0 0 38 1146 TT 1 1 0 - 9 60 342 0 0 21.229288 271 60 9614 374 ENST00000394378.2 0.032143 1 DDX52 11056 __UNKNOWN__ __UNKNOWN__ 17 35971028 35971028 __UNKNOWN__ 3'UTR SNP A A G rs4795209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:35971028A>G ENST00000349699.2 - 0 5156 RP11-697E22.1_ENST00000591689.1_RNA NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 NA NA membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822) biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) GATACTTTAAACAGACACAAT 0.348 NA A||| 854 0.170527 0.0885 0.219 5008 , , NA 24045 0.1438 NA 0.2078 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF077033 CCDS11323.1 17q21.1 2014-05-06 ENSG00000141141 ENSG00000278053 11056 DEAD-boxes 20038 protein-coding gene gene with protein product 612500 NA 11124703 Standard NM_152300 XM_006721650 NA Approved ROK1 uc002hoi.2 Q9Y2R4 OTTHUMG00000188475 ENST00000349699.2:c.*3313T>C chr17.hg19:g.35971028A>G NA Q86YG1|Q8N213|Q9NVE0|Q9Y482 hg19 CCDS11323.1 0.02 4.112211 TAAxCAG COVERED NOVEL DDX52-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256795.1 3 12.940485 KEEP 0 0 0 43 1405 AA 1 1 0 - 6 60 222 0 0 14.234784 138 60 4916 218 ENST00000349699.2 0.041667 1 HNF1B 6928 __UNKNOWN__ __UNKNOWN__ 17 36059246 36059246 __UNKNOWN__ Intron SNP A A C rs2269842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:36059246A>C ENST00000560016.1 - 7 1668 HNF1B_ENST00000561193.1_Intron|HNF1B_ENST00000225893.4_Intron|HNF1B_ENST00000427275.2_Intron P35680 HNF1B_HUMAN HNF1 homeobox B NA NA anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TACACAGGCAAAGACACAGGT 0.507 NA C||| 1727 0.344848 0.5371 0.3084 5008 , , NA 19932 0.2639 NA 0.2922 False NA ,,, NA NA NA 2504 0.2485 NA NA NA Colon(71;102 1179 9001 27917 43397) NA 0 C , 2088,2318 603.5+/-390.1 511,1066,626 59 55 57 , -5 0 17 dbSNP_100 57 2438,6162 697.8+/-405.0 343,1752,2205 no intron,intron HNF1B NM_000458.2,NM_001165923.1 , 854,2818,2831 CC,CA,AA 28.3488,47.3899,34.7993 , , 36059246 4526,8480 2203 4300 6503 SO:0001627 intron_variant BC017714 CCDS11324.1, CCDS58538.1 17q12 2014-05-06 2007-08-24 2007-08-24 ENSG00000108753 ENSG00000275410 6928 Homeoboxes / HNF class 11630 protein-coding gene gene with protein product 189907 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor TCF2 NA 1677179, 10484768 Standard NM_000458 NM_000458 NA Approved LFB3, VHNF1, HNF1beta, MODY5 uc002hok.4 P35680 OTTHUMG00000188478 ENST00000560016.1:c.1534+1741T>G chr17.hg19:g.36059246A>C NA B4DKM3|E0YMJ9 hg19 0.02 7.394411 GCAxAGA COVERED NOVEL HNF1B-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000417065.1 0 4.814402 KEEP 0 0 0 16 496 AA 0.997832 0.997832 0 - 8 60 308 0 0 20.918468 148 60 5377 219 ENST00000560016.1 0.051282 1 ARHGAP23 57636 __UNKNOWN__ __UNKNOWN__ 17 36614524 36614524 __UNKNOWN__ Intron SNP G G A rs16965349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:36614524G>A ENST00000431231.2 + 2 293 ARHGAP23_ENST00000443378.1_Intron|ARHGAP23_ENST00000437668.3_Intron NM_001199417.1 NP_001186346.1 Q9P227 RHG23_HUMAN Rho GTPase activating protein 23 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) GTPase activator activity (GO:0005096) breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2) 20 CCGGCTCGCCGCTGCCCTGGT 0.607 NA G||| 1509 0.301318 0.2012 0.4337 5008 , , NA 18652 0.4097 NA 0.2406 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040934 CCDS56027.1 17q12 2014-05-06 ENSG00000225485 ENSG00000275832 57636 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 29293 protein-coding gene gene with protein product 610590 NA 10819331, 15254754 Standard XM_290799 NM_001199417 NA Approved KIAA1501 uc021twd.1 Q9P227 OTTHUMG00000188547 ENST00000431231.2:c.225+17G>A chr17.hg19:g.36614524G>A NA hg19 CCDS56027.1 0.02 8.485707 GCCxCTG COVERED NOVEL ARHGAP23-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441789.1 1 29.49295 KEEP 0 0 0 98 3425 GG 1 1 0 + 11 60 400 0 0 25.725749 236 60 8397 427 ENST00000431231.2 0.044534 1 ARHGAP23 57636 __UNKNOWN__ __UNKNOWN__ 17 36614563 36614563 __UNKNOWN__ Intron SNP C C T rs16965350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:36614563C>T ENST00000431231.2 + 2 293 ARHGAP23_ENST00000443378.1_Intron|ARHGAP23_ENST00000437668.3_Intron NM_001199417.1 NP_001186346.1 Q9P227 RHG23_HUMAN Rho GTPase activating protein 23 NA NA regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) GTPase activator activity (GO:0005096) breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2) 20 GGGAGGGAGACTCTTTTGTGC 0.627 NA C||| 1569 0.313299 0.202 0.4467 5008 , , NA 18029 0.4087 NA 0.2694 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB040934 CCDS56027.1 17q12 2014-05-06 ENSG00000225485 ENSG00000275832 57636 Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing 29293 protein-coding gene gene with protein product 610590 NA 10819331, 15254754 Standard XM_290799 NM_001199417 NA Approved KIAA1501 uc021twd.1 Q9P227 OTTHUMG00000188547 ENST00000431231.2:c.225+56C>T chr17.hg19:g.36614563C>T NA hg19 CCDS56027.1 0.02 6.246824 AGAxTCT COVERED NOVEL ARHGAP23-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441789.1 1 18.359498 KEEP 0 0 0 61 2173 CC 1 1 0 + 7 60 258 0 0 16.41748 166 60 6193 294 ENST00000431231.2 0.040462 1 CISD3 284106 __UNKNOWN__ __UNKNOWN__ 17 36887090 36887090 __UNKNOWN__ Intron SNP C C G rs117131107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:36887090C>G ENST00000439660.2 + 2 208 CISD3_ENST00000578573.1_Intron NM_001136498.1 NP_001129970.1 P0C7P0 CISD3_HUMAN CDGSH iron sulfur domain 3 NA NA mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872) endometrium(2) 2 ACAAGACCCCCAGGCACGGAG 0.617 NA C||| 22 0.00439297 0.0 0.0 5008 , , NA 17217 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 51 49 49 NA NA 17 NA 36887090 692 1591 2283 SO:0001627 intron_variant AK097047 CCDS45662.1 17q12 2007-08-10 ENSG00000277972 284106 CDGSH iron sulfur domain containing 27578 protein-coding gene gene with protein product mitoNEET related 2 611933 NA 17376863, 17584744 Standard NM_001136498 NA Approved Miner2 uc010wds.1 P0C7P0 ENST00000439660.2:c.84+42C>G chr17.hg19:g.36887090C>G NA hg19 CCDS45662.1 0.02 15.458107 CCCxAGG COVERED NOVEL CISD3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441921.1 0 47.251081 KEEP 0 0 0 157 5581 CC 1 1 0 + 14 60 518 0 0 32.231226 380 60 14290 672 ENST00000439660.2 0.035533 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 37011929 37011929 __UNKNOWN__ IGR SNP C C A rs72625942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37011929C>A NA NA RPL23 (1833 upstream) : LASP1 (14182 downstream) NA NA NA CTTAAGTCAACTATTTTAATA 0.338 NA C||| 560 0.111821 0.0023 0.0562 5008 , , NA 17499 0.369 NA 0.0875 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.37011929C>A NA hg19 0.02 1.728661 CAAxTAT COVERED NOVEL 0 1 8.728563 KEEP 2 0 0 29 1040 CC 0.999997 0.999945 0 5 60 179 0 0 11.71455 93 60 3453 144 0.05102 0.999948 LASP1 3927 __UNKNOWN__ __UNKNOWN__ 17 37076434 37076434 __UNKNOWN__ 3'UTR SNP C C T rs117437224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37076434C>T ENST00000318008.6 + 0 2520 RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000435347.3_Intron NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 NA NA ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967) cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270) breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 TGGGGCTAAGCGGTGGAGGAA 0.587 NA T MLL AML c||| 132 0.0263578 0.0008 0.0 5008 , , NA 17751 0.0923 NA 0.0 False NA ,,, NA NA NA 2504 0.0389 NA NA NA Dom yes 17 17q11-q21.3 3927 LIM and SH3 protein 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11331.1, CCDS62164.1 17q11-q21.3 2008-07-18 ENSG00000002834 ENSG00000002834 3927 6513 protein-coding gene gene with protein product 602920 NA 7490069 Standard NM_006148 NM_006148 NA Approved MLN50, Lasp-1 uc010cvq.3 Q14847 OTTHUMG00000133182 ENST00000318008.6:c.*1403C>T chr17.hg19:g.37076434C>T NA B4DGQ0|Q96ED2|Q96IG0 hg19 CCDS11331.1 0.02 6.436823 AAGxGGT COVERED NOVEL LASP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256890.3 1 18.058456 KEEP 0 0 0 60 2109 CC 1 1 0 + 7 60 256 0 0 15.820649 190 60 6581 333 ENST00000318008.6 0.035533 1 FBXO47 494188 __UNKNOWN__ __UNKNOWN__ 17 37119295 37119295 __UNKNOWN__ De_novo_Start_OutOfFrame SNP C C T rs8065507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37119295C>T ENST00000378079.2 - 0 183 NM_001008777.2 NP_001008777.2 Q5MNV8 FBX47_HUMAN F-box protein 47 NA NA NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 TCTTGTCTCACAAATTTATCC 0.328 NA T||| 284 0.0567093 0.1127 0.0058 5008 , , NA 17417 0.0933 NA 0.0 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 T 455,3951 781.2+/-414.5 25,405,1773 104 108 106 3.6 0.1 17 dbSNP_116 106 5,8595 818.2+/-406.9 0,5,4295 no utr-5 FBXO47 NM_001008777.2 25,410,6068 TT,TC,CC 0.0581,10.3268,3.5368 37119295 460,12546 2203 4300 6503 CCDS32639.1 17q12 2014-08-12 ENSG00000204952 ENSG00000204952 494188 F-boxes / other 31969 protein-coding gene gene with protein product 609498 NA 15723337 Standard NM_001008777 NM_001008777 NA Approved uc002hrc.2 Q5MNV8 OTTHUMG00000178945 ENST00000378079.2:c.-17G>A chr17.hg19:g.37119295C>T NA B2RTZ4 hg19 CCDS32639.1 0.02 7.398821 TCAxAAA COVERED NOVEL FBXO47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444073.1 1 12.641757 KEEP 0 0 0 42 1523 CC 1 1 0 - 8 60 259 0 0 14.806198 215 60 8238 322 ENST00000378079.2 0.035874 1 STAC2 342667 __UNKNOWN__ __UNKNOWN__ 17 37366988 37366988 __UNKNOWN__ 3'UTR SNP C C T rs519512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37366988C>T ENST00000333461.5 - 0 3162 NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 NA NA intracellular signal transduction (GO:0035556) metal ion binding (GO:0046872) NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CCTTTGGGTACGAGGGTCTGT 0.612 NA C||| 252 0.0503195 0.0575 0.0476 5008 , , NA 13741 0.0565 NA 0.0537 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ608762 CCDS11335.1 17q21.2 2012-11-19 ENSG00000141750 ENSG00000141750 342667 23990 protein-coding gene gene with protein product NA Standard NM_198993 NM_198993 NA Approved 24b2 uc002hrs.3 Q6ZMT1 OTTHUMG00000179039 ENST00000333461.5:c.*1557G>A chr17.hg19:g.37366988C>T NA Q32MA3 hg19 CCDS11335.1 0.02 6.337099 GTAxGAG COVERED NOVEL STAC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444533.2 0 9.313869 KEEP 0 0 0 31 1030 CC 0.999997 0.999997 0 - 7 60 246 0 0 15.410849 156 70 5185 222 ENST00000333461.5 0.042945 1 STAC2 342667 __UNKNOWN__ __UNKNOWN__ 17 37367206 37367206 __UNKNOWN__ 3'UTR SNP G G T rs521397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37367206G>T ENST00000333461.5 - 0 2944 NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 NA NA intracellular signal transduction (GO:0035556) metal ion binding (GO:0046872) NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 CACCTTCCTTGTCTGTCTTCC 0.562 NA G||| 253 0.0505192 0.0575 0.0476 5008 , , NA 17686 0.0575 NA 0.0537 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ608762 CCDS11335.1 17q21.2 2012-11-19 ENSG00000141750 ENSG00000141750 342667 23990 protein-coding gene gene with protein product NA Standard NM_198993 NM_198993 NA Approved 24b2 uc002hrs.3 Q6ZMT1 OTTHUMG00000179039 ENST00000333461.5:c.*1339C>A chr17.hg19:g.37367206G>T NA Q32MA3 hg19 CCDS11335.1 0.02 17.35411 CTTxTCT COVERED NOVEL STAC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444533.2 2 33.699957 KEEP 0 0 0 112 3977 GG 1 1 0 - 11 60 409 0 0 24.104829 404 60 15396 675 ENST00000333461.5 0.026506 1 STARD3 10948 __UNKNOWN__ __UNKNOWN__ 17 37814080 37814080 __UNKNOWN__ Missense_Mutation SNP G G A rs1877031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37814080G>A ENST00000580611.1 + 3 402 c.272G>A c.(271-273)cGg>cAg p.R91Q STARD3_ENST00000394250.4_Missense_Mutation_p.R117Q|STARD3_ENST00000336308.5_Missense_Mutation_p.R117Q|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.R117Q Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 117 MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}. NA cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739) cholesterol binding (GO:0015485) p.R117Q(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCCGTGCTGCGGCTCCGGCAC 0.637 NA G||| 2349 0.46905 0.1853 0.5043 5008 , , NA 19160 0.4157 NA 0.673 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G GLN/ARG,GLN/ARG,GLN/ARG 1043,3363 381.8+/-324.2 121,801,1281 97 101 99 350,350,350 4.4 1 17 dbSNP_92 99 5613,2987 664.1+/-402.1 1830,1953,517 yes missense,missense,missense STARD3 NM_001165937.1,NM_001165938.1,NM_006804.3 43,43,43 1951,2754,1798 AA,AG,GG 34.7326,23.6723,48.8236 benign,benign,benign 117/446,117/428,117/446 37814080 6656,6350 2203 4300 6503 SO:0001583 missense CCDS11341.1, CCDS54117.1, CCDS54118.1 17q11-q12 2011-09-12 2007-08-16 ENSG00000131748 ENSG00000131748 10948 StAR-related lipid transfer (START) domain containing 17579 protein-coding gene gene with protein product 607048 START domain containing 3 NA Standard NM_006804 NA Approved es64, MLN64 uc002hsd.3 Q14849 OTTHUMG00000133213 ENST00000580611.1:c.272G>A chr17.hg19:g.37814080G>A ENSP00000463613:p.Arg91Gln NA A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9 hg19 0.02 8.323885 TGCxGCT COVERED 1072 0.4908424908424908 91 0.18495934959349594 192 0.5303867403314917 277 0.48426573426573427 512 0.6754617414248021 G 16.60 3.168811 0.57584 0.236723 0.652674 ENSG00000131748 ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521 T;T;T;T 0.43688 0.94;0.94;0.94;0.94 4.38 4.38 0.52667 MENTAL domain (2); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.40543 1.245 0.09310 P 0.999999127011 D;B;B 0.55172 0.97;0.127;0.132 P;B;B 0.50314 0.637;0.183;0.109 T 0.35549 -0.9784 9 0.27785 T 0.31 . 17.3051 0.87192 0.0:0.0:1.0:0.0 rs1877031;rs3817159;rs17850374;rs59894565;rs1877031 117;117;117 F5H0G2;A8MXA4;Q14849 .;.;STAR3_HUMAN Q 117 ENSP00000337446:R117Q;ENSP00000439869:R117Q;ENSP00000377794:R117Q;ENSP00000411710:R117Q ENSP00000337446:R117Q R + 2 0 STARD3 35067606 0.991000 0.36638 1.000000 0.80357 0.665000 0.39181 3.666000 0.54540 2.125000 0.65367 0.561000 0.74099 CGG NOVEL STARD3-013 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444971.1 2 24.76698 KEEP 0 1 33 94 3130 GG 1 1 0 + 7 60 249 0 0 14.781015 213 60 7391 390 ENST00000580611.1 0.031818 1 STARD3 10948 __UNKNOWN__ __UNKNOWN__ 17 37815899 37815899 __UNKNOWN__ Intron SNP G G A rs11658786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37815899G>A ENST00000580611.1 + 8 847 STARD3_ENST00000394250.4_Intron|STARD3_ENST00000336308.5_Intron|STARD3_ENST00000544210.2_Intron Q14849 STAR3_HUMAN StAR-related lipid transfer (START) domain containing 3 NA NA cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202) cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739) cholesterol binding (GO:0015485) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AAGATTACATGGGTTGGAGCC 0.572 NA G||| 2375 0.474241 0.2057 0.5072 5008 , , NA 11311 0.4117 NA 0.674 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11341.1, CCDS54117.1, CCDS54118.1 17q11-q12 2011-09-12 2007-08-16 ENSG00000131748 ENSG00000131748 10948 StAR-related lipid transfer (START) domain containing 17579 protein-coding gene gene with protein product 607048 START domain containing 3 NA Standard NM_006804 NA Approved es64, MLN64 uc002hsd.3 Q14849 OTTHUMG00000133213 ENST00000580611.1:c.717+93G>A chr17.hg19:g.37815899G>A NA A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9 hg19 0.02 6.16741 CATxGGT COVERED NOVEL STARD3-013 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444971.1 1 18.660312 KEEP 0 0 0 62 2183 GG 1 1 0 + 6 60 219 0 0 13.314982 176 70 6462 304 ENST00000580611.1 0.032967 1 PNMT 5409 __UNKNOWN__ __UNKNOWN__ 17 37824545 37824545 __UNKNOWN__ Intron SNP G G A rs876493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:37824545G>A ENST00000394246.1 + 1 90 PNMT_ENST00000269582.2_De_novo_Start_InFrame P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase NA NA catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) phenylethanolamine N-methyltransferase activity (GO:0004603) NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ACTCACCTCCGGTGTGTCTGC 0.736 NA g||| 2068 0.412939 0.3041 0.3415 5008 , , NA 8109 0.3185 NA 0.5805 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11343.1 17q 2010-04-16 ENSG00000141744 ENSG00000141744 5409 2.1.1.28 9160 protein-coding gene gene with protein product 171190 PENT NA 3372503 Standard NM_002686 NM_002686 NA Approved uc002hsi.2 P11086 OTTHUMG00000133209 ENST00000394246.1:c.-93+222G>A chr17.hg19:g.37824545G>A NA hg19 0.02 11.233234 TCCxGTG COVERED NOVEL PNMT-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000256924.1 2 16.297267 KEEP 0 5 153 108 3627 GG 1 1 0 + 10 60 370 0 0 23.340283 252 60 8740 498 ENST00000394246.1 0.038168 1 MED24 9862 __UNKNOWN__ __UNKNOWN__ 17 38189805 38189805 __UNKNOWN__ Intron SNP A A C rs187981826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:38189805A>C ENST00000394128.2 - 7 641 MED24_ENST00000356271.3_Intron|MED24_ENST00000501516.3_Intron|MED24_ENST00000394126.1_Intron|MED24_ENST00000394127.2_Intron NM_014815.3 NP_055630.2 O75448 MED24_HUMAN mediator complex subunit 24 NA NA androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809) autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) CCTCCGGCACACGAAACCACA 0.587 NA A||| 26 0.00519169 0.0 0.0 5008 , , NA 17633 0.0258 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055995 CCDS11359.1, CCDS42315.1 17q21.2 2007-07-30 2007-07-30 2007-07-30 ENSG00000008838 ENSG00000008838 9862 22963 protein-coding gene gene with protein product 607000 thyroid hormone receptor associated protein 4, cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa THRAP4, CRSP4 NA Standard NM_014815 NM_001079518 NA Approved TRAP100, KIAA0130, DRIP100, CRSP100 uc002htt.3 O75448 OTTHUMG00000133329 ENST00000394128.2:c.560-96T>G chr17.hg19:g.38189805A>C NA A8K4S5|B3KMR9|Q14143|Q9NNY5 hg19 CCDS11359.1 0.02 1.517046 CACxCGA COVERED NOVEL MED24-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257147.2 0 7.219362 KEEP 0 0 0 24 705 AA 0.999909 0.999677 0 - 4 60 137 0 0 8.545982 84 60 2989 121 ENST00000394128.2 0.045455 0.999768 NR1D1 9572 __UNKNOWN__ __UNKNOWN__ 17 38252660 38252660 __UNKNOWN__ Intron SNP G G A rs883871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:38252660G>A ENST00000246672.3 - 4 1235 NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 NA NA cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) AACTTTGGGCGGAAGAAGGGG 0.493 NA G||| 1514 0.302316 0.323 0.2752 5008 , , NA 20922 0.5833 NA 0.1501 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 G 1280,3126 431.2+/-342.8 178,924,1101 50 48 48 1.8 0 17 dbSNP_86 48 1128,7472 231.5+/-265.5 79,970,3251 no intron NR1D1 NM_021724.3 257,1894,4352 AA,AG,GG 13.1163,29.0513,18.5145 38252660 2408,10598 2203 4300 6503 SO:0001627 intron_variant X72631 CCDS11361.1 17q11.2 2013-01-16 ENSG00000126368 ENSG00000126368 9572 Nuclear hormone receptors 7962 protein-coding gene gene with protein product 602408 THRAL NA 1971514 Standard NM_021724 NA Approved ear-1, hRev, Rev-ErbAalpha, THRA1 uc002htz.3 P20393 OTTHUMG00000133327 ENST00000246672.3:c.604+35C>T chr17.hg19:g.38252660G>A NA Q0P5Z4|Q15304 hg19 CCDS11361.1 0.02 4.385989 GGCxGAA COVERED NOVEL NR1D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257135.1 0 18.659277 KEEP 0 0 0 62 2120 GG 1 1 0 - 6 60 229 0 0 14.880346 141 60 4693 262 ENST00000246672.3 0.040816 1 CASC3 22794 __UNKNOWN__ __UNKNOWN__ 17 38297618 38297618 __UNKNOWN__ Intron SNP G G A rs141877802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:38297618G>A ENST00000264645.7 + 2 485 NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 NA NA gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380) cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529) enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625) endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 TTGTAACATAGTGGTTAAGAG 0.398 NA G||| 18 0.00359425 0.0 0.0 5008 , , NA 20321 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X80199 CCDS11362.1 17q21.1 2012-09-20 ENSG00000108349 ENSG00000108349 22794 17040 protein-coding gene gene with protein product 606504 NA 7490069, 18332872 Standard NM_007359 NM_007359 NA Approved MLN51, BTZ uc002hue.3 O15234 OTTHUMG00000133323 ENST00000264645.7:c.259+131G>A chr17.hg19:g.38297618G>A NA A8K8R0 hg19 CCDS11362.1 0.02 1.837507 ATAxTGG COVERED NOVEL CASC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257127.3 1 2.708833 KEEP 0 0 0 9 318 GG 0.99254 0.99248 0 + 5 60 153 0 0 9.461237 91 60 3316 107 ENST00000264645.7 0.052083 0.99994 RAPGEFL1 51195 __UNKNOWN__ __UNKNOWN__ 17 38351383 38351383 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:38351383C>T ENST00000436615.3 + 0 3204 RAPGEFL1_ENST00000264644.6_3'UTR NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264) membrane (GO:0016020) guanyl-nucleotide exchange factor activity (GO:0005085) breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 ATTTTTTACCCAAAGCTCTGG 0.403 NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(28;274 750 6870 14218 42203) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF117946 CCDS11363.1 17q21.2 2006-08-01 2004-03-26 ENSG00000108352 ENSG00000108352 51195 17428 protein-coding gene gene with protein product Link guanine nucleotide exchange factor II RAP guanine-nucleotide-exchange factor (GEF)-like 1 NA Standard NM_016339 NM_016339 NA Approved Link-GEFII uc010cwu.1 Q9UHV5 OTTHUMG00000133325 ENST00000436615.3:c.*1343C>T chr17.hg19:g.38351383C>T NA hg19 CCDS11363.1 0.02 1.936584 ACCxAAA COVERED NOVEL RAPGEFL1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000397521.3 0 9.329814 KEEP 0 0 0 31 1079 CC 0.999997 0.999937 0 + 4 60 149 0 0 9.57126 93 60 3496 145 ENST00000436615.3 0.041237 0.99994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 38948438 38948438 __UNKNOWN__ IGR SNP G G T rs2429546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:38948438G>T NA NA KRT27 (9652 upstream) : KRT28 (16 downstream) NA NA NA CTCTATGAATGAGACATAGAA 0.279 NA T||| 1933 0.385982 0.4644 0.2666 5008 , , NA 17889 0.3571 NA 0.3777 False NA ,,, NA NA NA 2504 0.4029 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.38948438G>T NA hg19 0.02 5.783545 AATxAGA COVERED NOVEL 0 3 12.640057 KEEP 0 0 0 42 1486 GG 1 1 0 7 60 252 0 0 15.891169 162 60 6085 249 0.04142 1 TMEM99 147184 __UNKNOWN__ __UNKNOWN__ 17 38991003 38991003 __UNKNOWN__ Missense_Mutation SNP T T C rs10558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:38991003T>C ENST00000301665.3 + 3 539 c.235T>C c.(235-237)Tat>Cat p.Y79H NM_001195386.1|NM_001195387.1|NM_145274.3 NP_001182315.1|NP_001182316.1|NP_660317.2 Q8N816 TMM99_HUMAN transmembrane protein 99 79 NA Y -> H (in dbSNP:rs10558). integral component of membrane (GO:0016021) cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1) 10 Breast(137;0.000301) CTTTCTTCGCTATCTTGGGAC 0.468 NA T||| 1690 0.33746 0.4758 0.1499 5008 , , NA 20764 0.4077 NA 0.1839 False NA ,,, NA NA NA 2504 0.3691 NA NA NA NA 0 T HIS/TYR,HIS/TYR,HIS/TYR 1614,2202 360,894,654 229 228 228 235,235,235 -0.5 0 17 dbSNP_52 228 1357,6897 120,1117,2890 yes missense,missense,missense TMEM99 NM_001195386.1,NM_001195387.1,NM_145274.3 83,83,83 480,2011,3544 CC,CT,TT 16.4405,42.2956,24.6147 benign,benign,benign 79/259,79/259,79/259 38991003 2971,9099 1908 4127 6035 SO:0001583 missense AK097454 CCDS42319.1 17q21.2 2008-11-06 ENSG00000167920 ENSG00000167920 147184 28305 protein-coding gene gene with protein product NA 12477932 Standard NM_145274 NM_001195386 NA Approved MGC21518 uc021txc.1 Q8N816 OTTHUMG00000133579 ENST00000301665.3:c.235T>C chr17.hg19:g.38991003T>C ENSP00000301665:p.Tyr79His NA B4DQ34|Q96BP9 hg19 CCDS42319.1 0.02 18.986032 CGCxATC COVERED 651 0.2980769230769231 221 0.4491869918699187 63 0.17403314917127072 231 0.40384615384615385 136 0.17941952506596306 T 1.938 -0.444291 0.04604 0.422956 0.164405 ENSG00000167920 ENST00000436612;ENST00000301665 T;T 0.31247 1.5;1.5 0.235 -0.47 0.12131 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.25955 0.138 B 0.20577 0.03 T 0.45440 -0.9261 7 0.87932 D 0 . . . . rs10558;rs3169918;rs52809908;rs58229259;rs10558 79 Q8N816 TMM99_HUMAN H 79 ENSP00000390036:Y79H;ENSP00000301665:Y79H ENSP00000301665:Y79H Y + 1 0 TMEM99 36244529 0.002000 0.14202 0.001000 0.08648 0.001000 0.01503 -1.878000 0.01630 -0.905000 0.03871 -0.946000 0.02672 TAT NOVEL TMEM99-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257681.1 2 26.779169 KEEP 0 0 0 89 2761 TT 1 1 0 + 14 60 520 0 0 31.949953 421 60 15396 657 ENST00000301665.3 0.032184 1 RP5-1110E20.1 0 __UNKNOWN__ __UNKNOWN__ 17 39017369 39017369 __UNKNOWN__ RNA SNP C C T rs67401513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39017369C>T ENST00000579136.1 + 0 61 NA NA NA gggggtctctctatgttgtcc 0.428 NA C||| 1826 0.364617 0.5772 0.1556 5008 , , NA 16715 0.4077 NA 0.1839 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000579136.1: chr17.hg19:g.39017369C>T NA hg19 0.02 4.202145 TCTxTAT COVERED NOVEL RP5-1110E20.1-001 KNOWN basic antisense NA antisense OTTHUMT00000448164.1 2 6.020039 KEEP 0 0 0 20 752 CC 0.999863 0.999857 0 + 6 60 214 0 0 14.154469 104 60 3934 139 ENST00000579136.1 0.054545 0.999994 KRT40 125115 __UNKNOWN__ __UNKNOWN__ 17 39134659 39134659 __UNKNOWN__ Intron SNP C C T rs3817148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39134659C>T ENST00000398486.2 - 9 1357 KRT40_ENST00000377755.4_Intron NM_182497.3 NP_872303.2 Q6A162 K1C40_HUMAN keratin 40 NA NA intermediate filament (GO:0005882) structural molecule activity (GO:0005198) endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GAAAAAAACTCTGCACAATAG 0.358 NA C||| 1082 0.216054 0.0628 0.317 5008 , , NA 18721 0.251 NA 0.2425 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093919 CCDS42320.1 17q21.2 2013-01-16 ENSG00000204889 ENSG00000204889 125115 -, Intermediate filaments type I, keratins (acidic) 26707 protein-coding gene gene with protein product NA 16831889 Standard NM_182497 NM_182497 NA Approved FLJ36600, KA36 uc010cxh.1 Q6A162 OTTHUMG00000133596 ENST00000398486.2:c.1197-111G>A chr17.hg19:g.39134659C>T NA Q6IFU5 hg19 CCDS42320.1 0.02 4.091345 ACTxTGC COVERED NOVEL KRT40-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257701.3 1 4.849709 KEEP 0 1 28 26 920 CC 0.999988 0.999988 0 - 6 60 217 0 0 14.265701 112 60 4302 180 ENST00000398486.2 0.050847 1 KRT40 125115 __UNKNOWN__ __UNKNOWN__ 17 39140458 39140458 __UNKNOWN__ Missense_Mutation SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39140458G>C ENST00000398486.2 - 3 228 c.68C>G c.(67-69)cCt>cGt p.P23R KRT40_ENST00000377755.4_Missense_Mutation_p.P23R NM_182497.3 NP_872303.2 Q6A162 K1C40_HUMAN keratin 40 23 Head. NA intermediate filament (GO:0005882) structural molecule activity (GO:0005198) endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) GCTTGAGGCAGGTGCACAACC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 34 43 40 NA NA 17 NA 39140458 2093 4217 6310 SO:0001583 missense AK093919 CCDS42320.1 17q21.2 2013-01-16 ENSG00000204889 ENSG00000204889 125115 -, Intermediate filaments type I, keratins (acidic) 26707 protein-coding gene gene with protein product NA 16831889 Standard NM_182497 NM_182497 NA Approved FLJ36600, KA36 uc010cxh.1 Q6A162 OTTHUMG00000133596 ENST00000398486.2:c.68C>G chr17.hg19:g.39140458G>C ENSP00000381500:p.Pro23Arg NA Q6IFU5 hg19 CCDS42320.1 0.02 14.425113 GCAxGTG COVERED . . . . . . . . . . G 7.971 0.749042 0.15710 . . ENSG00000204889 ENST00000377755;ENST00000398486 T;T 0.81415 -1.49;-1.49 4.92 1.47 0.22746 . 2.527550 0.01998 N 0.046062 T 0.71542 0.3352 L 0.29908 0.895 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.51403 -0.8710 10 0.14252 T 0.57 . 9.8062 0.40795 0.2376:0.0:0.7624:0.0 . 23 Q6A162 K1C40_HUMAN R 23 ENSP00000366984:P23R;ENSP00000381500:P23R ENSP00000366984:P23R P - 2 0 KRT40 36393984 . . 0.013000 0.15412 0.054000 0.15201 . . 0.092000 0.17331 0.591000 0.81541 CCT NOVEL KRT40-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257701.3 2 13.844692 KEEP 0 0 0 46 1612 GG 1 1 0 - 16 60 523 0 0 31.747847 348 60 13167 474 ENST00000398486.2 0.043956 1 KRTAP4-8 728224 __UNKNOWN__ __UNKNOWN__ 17 39253311 39253311 __UNKNOWN__ 3'UTR SNP A A G rs6416911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39253311A>G ENST00000333822.4 - 0 1082 NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 NA NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 AAAAATTCTGACAAACTTGAA 0.343 NA g||| 3231 0.645168 0.9433 0.634 5008 , , NA 15482 0.4187 NA 0.6193 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ406940 CCDS45674.1 17q21.2 2013-06-25 ENSG00000204880 ENSG00000204880 728224 Keratin associated proteins 17230 protein-coding gene gene with protein product NA 11279113 Standard NM_031960 NM_031960 NA Approved KAP4.8 uc010wfo.2 Q9BYQ9 OTTHUMG00000133580 ENST00000333822.4:c.*468T>C chr17.hg19:g.39253311A>G NA A8MSH3 hg19 CCDS45674.1 0.02 5.880179 CTGxCAA COVERED NOVEL KRTAP4-8-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257684.1 1 2.781045 KEEP 0 2 74 35 1147 AA 1 1 0 - 8 60 291 0 0 18.480502 184 60 6508 284 ENST00000333822.4 0.041667 1 KRTAP4-8 728224 __UNKNOWN__ __UNKNOWN__ 17 39253337 39253337 __UNKNOWN__ 3'UTR SNP A A G rs6416912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39253337A>G ENST00000333822.4 - 0 1056 NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 NA NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 AGAGAAAGAGAGAGCAGGGAG 0.358 NA a||| 2832 0.565495 0.6536 0.6124 5008 , , NA 15508 0.4187 NA 0.6183 False NA ,,, NA NA NA 2504 0.5102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ406940 CCDS45674.1 17q21.2 2013-06-25 ENSG00000204880 ENSG00000204880 728224 Keratin associated proteins 17230 protein-coding gene gene with protein product NA 11279113 Standard NM_031960 NM_031960 NA Approved KAP4.8 uc010wfo.2 Q9BYQ9 OTTHUMG00000133580 ENST00000333822.4:c.*442T>C chr17.hg19:g.39253337A>G NA A8MSH3 hg19 CCDS45674.1 0.02 8.97934 GAGxGAG COVERED NOVEL KRTAP4-8-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257684.1 1 3.783367 KEEP 0 2 73 38 1236 AA 1 1 0 - 7 60 260 0 0 16.137692 195 60 7104 293 ENST00000333822.4 0.034653 1 KRTAP4-8 728224 __UNKNOWN__ __UNKNOWN__ 17 39253521 39253521 __UNKNOWN__ 3'UTR SNP A A T rs6503593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39253521A>T ENST00000333822.4 - 0 872 NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 NA NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 GGATTGGAATAATTTCTTAGC 0.333 NA a||| 2829 0.564896 0.6558 0.6124 5008 , , NA 17838 0.4157 NA 0.6183 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ406940 CCDS45674.1 17q21.2 2013-06-25 ENSG00000204880 ENSG00000204880 728224 Keratin associated proteins 17230 protein-coding gene gene with protein product NA 11279113 Standard NM_031960 NM_031960 NA Approved KAP4.8 uc010wfo.2 Q9BYQ9 OTTHUMG00000133580 ENST00000333822.4:c.*258T>A chr17.hg19:g.39253521A>T NA A8MSH3 hg19 CCDS45674.1 0.02 5.538402 AATxATT COVERED NOVEL KRTAP4-8-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257684.1 3 2.238977 KEEP 0 1 30 18 532 AA 0.99986 0.99986 0 - 6 60 202 0 0 11.915832 157 60 5504 198 ENST00000333822.4 0.03681 1 KRTAP4-8 728224 __UNKNOWN__ __UNKNOWN__ 17 39253581 39253581 __UNKNOWN__ 3'UTR SNP G G T rs8067655 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39253581G>T ENST00000333822.4 - 0 812 NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 NA NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 GGAAGAAAAAGAAAGCAAGGG 0.383 NA g||| 2828 0.564696 0.6558 0.6124 5008 , , NA 18248 0.4147 NA 0.6183 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ406940 CCDS45674.1 17q21.2 2013-06-25 ENSG00000204880 ENSG00000204880 728224 Keratin associated proteins 17230 protein-coding gene gene with protein product NA 11279113 Standard NM_031960 NM_031960 NA Approved KAP4.8 uc010wfo.2 Q9BYQ9 OTTHUMG00000133580 ENST00000333822.4:c.*198C>A chr17.hg19:g.39253581G>T NA A8MSH3 hg19 CCDS45674.1 0.02 6.519385 AAAxAAA COVERED NOVEL KRTAP4-8-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257684.1 2 2.407897 KEEP 0 0 0 8 288 GG 0.99257 0.99257 0 - 8 60 287 0 0 18.392739 168 60 6294 190 ENST00000333822.4 0.045455 1 KRTAP4-8 728224 __UNKNOWN__ __UNKNOWN__ 17 39253685 39253685 __UNKNOWN__ 3'UTR SNP A A C rs7212517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39253685A>C ENST00000333822.4 - 0 708 NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 NA NA aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 TGAATGACATAAATCCCACTC 0.502 NA c||| 2826 0.564297 0.6543 0.6124 5008 , , NA 19095 0.4147 NA 0.6183 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ406940 CCDS45674.1 17q21.2 2013-06-25 ENSG00000204880 ENSG00000204880 728224 Keratin associated proteins 17230 protein-coding gene gene with protein product NA 11279113 Standard NM_031960 NM_031960 NA Approved KAP4.8 uc010wfo.2 Q9BYQ9 OTTHUMG00000133580 ENST00000333822.4:c.*94T>G chr17.hg19:g.39253685A>C NA A8MSH3 hg19 CCDS45674.1 0.02 14.535051 CATxAAT COVERED NOVEL KRTAP4-8-001 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257684.1 0 7.521512 KEEP 0 0 0 25 764 AA 0.999931 0.999931 0 - 10 60 384 0 0 23.901827 308 60 11059 404 ENST00000333822.4 0.031447 1 KRTAP4-5 85289 __UNKNOWN__ __UNKNOWN__ 17 39305956 39305956 __UNKNOWN__ Missense_Mutation SNP G G A rs1497383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39305956G>A ENST00000343246.4 - 1 98 c.64C>T c.(64-66)Cgc>Tgc p.R22C NM_033188.3 NP_149445.3 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 22 26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC]. NA R -> C (in dbSNP:rs1497383). {ECO:0000269|PubMed:11279113}. aging (GO:0007568)|hair cycle (GO:0042633) keratin filament (GO:0045095) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGCTGGGGCGGCAGCAGTTC 0.632 NA G||| 2209 0.441094 0.3699 0.5144 5008 , , NA 16738 0.3532 NA 0.4861 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 G CYS/ARG 1658,2746 319,1020,863 30 34 33 64 1.5 0.5 17 dbSNP_88 33 4137,4449 994,2149,1150 yes missense KRTAP4-5 NM_033188.3 180 1313,3169,2013 AA,AG,GG 48.1831,37.6476,44.6112 benign 22/182 39305956 5795,7195 2202 4293 6495 SO:0001583 missense AJ406937 CCDS32650.1 17q21.2 2013-06-25 ENSG00000198271 ENSG00000198271 85289 Keratin associated proteins 18899 protein-coding gene gene with protein product NA 11279113 Standard NM_033188 NA Approved KAP4.5 uc002hwb.3 Q9BYR2 OTTHUMG00000133638 ENST00000343246.4:c.64C>T chr17.hg19:g.39305956G>A ENSP00000340546:p.Arg22Cys NA hg19 CCDS32650.1 0.02 10.534565 GGCxGCA COVERED 954 0.4368131868131868 186 0.3780487804878049 187 0.5165745856353591 216 0.3776223776223776 365 0.4815303430079156 . 4.323 0.059209 0.08339 0.376476 0.481831 ENSG00000198271 ENST00000343246 T 0.01446 4.88 3.52 1.46 0.22682 . 0.915314 0.08847 U 0.884953 T 0.00012 0.0000 M 0.72576 2.205 0.41445 P 0.012055999999999956 B 0.21753 0.06 B 0.15484 0.013 T 0.35624 -0.9781 9 0.49607 T 0.09 . 2.1325 0.03754 0.1118:0.1821:0.4821:0.224 rs1497383;rs6503605;rs1497383 22 Q9BYR2 KRA45_HUMAN C 22 ENSP00000340546:R22C ENSP00000340546:R22C R - 1 0 KRTAP4-5 36559482 0.022000 0.18835 0.504000 0.27639 0.011000 0.07611 -0.126000 0.10563 0.421000 0.25980 -0.254000 0.11334 CGC NOVEL KRTAP4-5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257783.1 1 6.754788 KEEP 0 1 33 34 1150 GG 0.999999 0.999999 0 - 14 60 513 0 0 33.503634 282 60 9411 380 ENST00000343246.4 0.047297 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 39344592 39344592 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39344592A>G NA NA KRTAP4-1 (2998 upstream) : KRTAP9-1 (104 downstream) NA NA NA ACCAGCAAACAGAGGCTGTGT 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.39344592A>G NA hg19 0.02 4.983905 AACxGAG COVERED NOVEL 0 0 3.310326 KEEP 0 0 0 11 354 AA 0.993072 0.993072 0 6 60 198 0 0 11.610841 151 60 5626 190 0.038217 1 JUP 3728 __UNKNOWN__ __UNKNOWN__ 17 39919451 39919451 __UNKNOWN__ Silent SNP C C T rs373544304 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:39919451C>T ENST00000393931.3 - 8 1399 c.1281G>A c.(1279-1281)acG>acA p.T427T JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Silent_p.T427T|JUP_ENST00000393930.1_Silent_p.T427T NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 427 NA adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005) actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915) alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GTGTCACCAGCGTCTTGTTCT 0.577 NA NA NA NA NA NA NA NA NA NA Colon(16;42 520 6044 17852 28530) NA 0 186 141 156 NA NA 17 NA 39919451 2203 4300 6503 SO:0001819 synonymous_variant AF233882 CCDS11407.1 17q21 2014-09-17 2004-08-09 ENSG00000173801 ENSG00000173801 3728 Armadillo repeat containing 6207 protein-coding gene gene with protein product 173325 catenin (cadherin-associated protein), gamma 80kDa CTNNG NA 1889810, 7604000 Standard NM_021991 NA Approved DP3, PDGB, PKGB, DPIII uc002hxs.2 P14923 OTTHUMG00000133494 ENST00000393931.3:c.1281G>A chr17.hg19:g.39919451C>T NA Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9 hg19 CCDS11407.1 0.02 8.073419 CAGxGTC COVERED NOVEL JUP-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257406.1 2 21.575959 KEEP 0 1 32 83 2808 CC 1 1 0 - 7 60 252 0 0 14.847096 230 60 8138 402 ENST00000393931.3 0.029536 1 KLHL10 317719 __UNKNOWN__ __UNKNOWN__ 17 40003756 40003756 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:40003756G>T ENST00000293303.4 + 4 1605 NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 NA NA cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286) cytoplasm (GO:0005737) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) GTAAGTATTTGAAAAGCtttt 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057224 CCDS42340.1 17q21.2 2013-01-30 2013-01-30 ENSG00000161594 ENSG00000161594 317719 Kelch-like, BTB/POZ domain containing 18829 protein-coding gene gene with protein product 608778 kelch-like 10 (Drosophila) NA Standard NM_152467 NM_152467 NA Approved FLJ32662 uc010cxr.3 Q6JEL2 OTTHUMG00000152510 ENST00000293303.4:c.1452+94G>T chr17.hg19:g.40003756G>T NA Q6NW28|Q96MC0 hg19 CCDS42340.1 0.02 4.639468 TTTxAAA COVERED NOVEL KLHL10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326535.1 3 7.514316 KEEP 0 0 0 25 827 GG 0.999931 0.999931 0 + 18 60 295 0 0 14.39882 158 60 5312 228 ENST00000293303.4 0.102273 1 ACLY 47 __UNKNOWN__ __UNKNOWN__ 17 40034288 40034288 __UNKNOWN__ Intron SNP C C T rs143071331 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:40034288C>T ENST00000352035.2 - 22 2618 ACLY_ENST00000353196.1_Intron|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Intron|ACLY_ENST00000393896.2_Intron NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase NA NA ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CAAATCAACGCGAAACCCACC 0.478 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 17872 0.0109 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Colon(64;807 1396 15971 30971) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X64330 CCDS11412.1, CCDS11413.1 17q21.2 2010-04-27 ENSG00000131473 ENSG00000131473 47 2.3.3.8 115 protein-coding gene gene with protein product ATP citrate synthase 108728 NA 1371749, 8088842 Standard NM_001096 NM_001096 NA Approved ATPCL, CLATP, ACL uc002hyg.3 P53396 OTTHUMG00000133507 ENST00000352035.2:c.2487+67G>A chr17.hg19:g.40034288C>T NA B4DIM0|B4E3P0|Q13037|Q9BRL0 hg19 CCDS11412.1 0.02 1.63006 ACGxGAA COVERED NOVEL ACLY-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000257465.1 1 5.116259 KEEP 0 0 0 17 588 CC 0.999366 0.999315 0 - 5 60 171 0 0 10.918613 93 60 3336 128 ENST00000352035.2 0.05102 0.999948 EZH1 2145 __UNKNOWN__ __UNKNOWN__ 17 40881015 40881015 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:40881015T>A ENST00000590078.1 - 3 118 EZH1_ENST00000435174.1_Intron|EZH1_ENST00000428826.2_Intron|EZH1_ENST00000415827.2_Intron|EZH1_ENST00000585893.1_Intron|EZH1_ENST00000592743.1_Intron Q92800 EZH1_HUMAN enhancer of zeste 1 polycomb repressive complex 2 subunit NA NA anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976) breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TGCCTGGAAATAAAGCATTCC 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32659.1 17q21.1-q21.3 2014-05-28 2014-05-28 ENSG00000108799 2145 Chromatin-modifying enzymes / K-methyltransferases 3526 protein-coding gene gene with protein product 601674 enhancer of zeste (Drosophila) homolog 1, enhancer of zeste homolog 1 (Drosophila) NA 8921387 Standard NM_001991 NM_001991 NA Approved KIAA0388, KMT6B uc002iaz.3 Q92800 ENST00000590078.1:c.93-1234A>T chr17.hg19:g.40881015T>A NA A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3 hg19 0.02 1.946201 AAAxAAA COVERED NOVEL EZH1-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000452353.1 0 2.714222 KEEP 0 1 16 15 418 TT 0.997832 0.997826 0 - 16 60 243 0 0 12.632998 94 60 2746 143 ENST00000590078.1 0.145455 0.999995 RPL27 6155 __UNKNOWN__ __UNKNOWN__ 17 41150949 41150949 __UNKNOWN__ Intron SNP G G A rs2271539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41150949G>A ENST00000589913.1 + 1 355 RPL27_ENST00000589037.1_Intron|RPL27_ENST00000253788.5_Intron P61353 RL27_HUMAN ribosomal protein L27 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1)|kidney(1) 3 Breast(137;0.000717)|Ovarian(249;0.0776) BRCA - Breast invasive adenocarcinoma(366;0.157) TGGGGCAGTAGCCAGTGAGCA 0.582 NA G||| 2405 0.480232 0.1331 0.6527 5008 , , NA 14533 0.5754 NA 0.6421 False NA ,,, NA NA NA 2504 0.5624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11449.1 17q21 2011-04-06 ENSG00000131469 6155 L ribosomal proteins 10328 protein-coding gene gene with protein product 60S ribosomal protein L27 607526 NA 1302024 Standard NM_000988 NM_000988 NA Approved L27 uc002icj.3 P61353 ENST00000589913.1:c.81+101G>A chr17.hg19:g.41150949G>A NA P08526|Q4G0A9 hg19 CCDS11449.1 0.02 5.790954 GTAxCCA COVERED NOVEL RPL27-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452472.1 2 34.044777 KEEP 0 1 31 124 4383 GG 1 1 0 + 9 60 317 0 0 21.038054 148 60 5336 350 ENST00000589913.1 0.057325 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 41400385 41400385 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41400385G>A NA NA LINC00854 (17047 upstream) : LINC00910 (64208 downstream) NA NA NA ggcgtgaagcgagggaaacac 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.41400385G>A NA hg19 0.02 -0.429637 AGCxAGG COVERED NOVEL 0 2 3.009661 KEEP 0 0 0 10 346 GG 0.992708 0.947531 0 5 60 161 0 0 11.483771 44 60 1524 68 0.102041 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 41400527 41400527 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41400527C>T NA NA LINC00854 (17189 upstream) : LINC00910 (64066 downstream) NA NA NA tttctcttcgcgtgtgtgcgg 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.41400527C>T NA hg19 0.02 3.953534 TCGxGTG COVERED NOVEL 0 2 6.588969 KEEP 0 2 57 42 1445 CC 1 1 0 8 60 278 0 0 18.626587 120 60 4310 208 0.0625 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 41400647 41400647 __UNKNOWN__ IGR SNP C C G rs141933503 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41400647C>G NA NA LINC00854 (17309 upstream) : LINC00910 (63946 downstream) NA NA NA gtagtggccccgagtgcctgg 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.41400647C>G NA hg19 0.02 9.263812 CCCxGAG COVERED NOVEL 0 0 2.251139 KEEP 0 7 224 86 2833 CC 1 1 0 12 60 421 0 0 28.022737 192 60 6633 344 0.058824 1 DHX8 1659 __UNKNOWN__ __UNKNOWN__ 17 41570427 41570427 __UNKNOWN__ Intron SNP T T C rs2279191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41570427T>C ENST00000262415.3 + 6 935 DHX8_ENST00000540306.1_Intron NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 NA NA ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TGGTGCTCTTTTGTTCACACC 0.398 NA C||| 1134 0.226438 0.1415 0.2349 5008 , , NA 20504 0.3254 NA 0.2286 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NSCLC(56;1548 1661 49258 49987) NA 0 C 609,3797 768.3+/-413.6 53,503,1647 127 119 122 -1.3 0 17 dbSNP_100 122 2170,6430 710.6+/-405.8 286,1598,2416 no intron DHX8 NM_004941.1 339,2101,4063 CC,CT,TT 25.2326,13.8221,21.3671 41570427 2779,10227 2203 4300 6503 SO:0001627 intron_variant D50487 CCDS11464.1 17q21.31 2005-08-19 2003-06-13 2003-06-20 ENSG00000067596 1659 DEAH-boxes 2749 protein-coding gene gene with protein product 600396 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase) DDX8 NA 7935475 Standard NM_004941 NA Approved HRH1, PRP22, PRPF22 uc002idu.1 Q14562 ENST00000262415.3:c.863+19T>C chr17.hg19:g.41570427T>C NA hg19 CCDS11464.1 0.02 1.798832 CTTxTGT COVERED NOVEL DHX8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453485.1 2 5.115921 KEEP 0 0 0 17 558 TT 0.999366 0.999202 0 + 4 60 147 0 0 9.505215 86 60 3068 121 ENST00000262415.3 0.044444 0.999835 DHX8 1659 __UNKNOWN__ __UNKNOWN__ 17 41598940 41598940 __UNKNOWN__ Intron SNP T T C rs71361531|rs2271957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41598940T>C ENST00000262415.3 + 21 3335 DHX8_ENST00000540306.1_Intron NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 NA NA ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ACAGGTAAGCTGGAATCTGAT 0.473 NA C||| 1400 0.279553 0.3374 0.2406 5008 , , NA 21011 0.3244 NA 0.2306 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NSCLC(56;1548 1661 49258 49987) NA 0 C 1494,2912 676.1+/-403.2 255,984,964 102 85 91 -6.9 0 17 dbSNP_100 91 2216,6384 710.4+/-405.8 299,1618,2383 no intron DHX8 NM_004941.1 554,2602,3347 CC,CT,TT 25.7674,33.9083,28.5253 41598940 3710,9296 2203 4300 6503 SO:0001627 intron_variant D50487 CCDS11464.1 17q21.31 2005-08-19 2003-06-13 2003-06-20 ENSG00000067596 1659 DEAH-boxes 2749 protein-coding gene gene with protein product 600396 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase) DDX8 NA 7935475 Standard NM_004941 NA Approved HRH1, PRP22, PRPF22 uc002idu.1 Q14562 ENST00000262415.3:c.3263+7T>C chr17.hg19:g.41598940T>C NA hg19 CCDS11464.1 0.02 8.892828 AGCxGGA COVERED NOVEL DHX8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453485.1 1 20.762517 KEEP 0 0 0 69 2197 TT 1 1 0 + 12 60 420 0 0 26.914699 234 60 8681 402 ENST00000262415.3 0.04878 1 DHX8 1659 __UNKNOWN__ __UNKNOWN__ 17 41599383 41599383 __UNKNOWN__ Intron SNP G G A rs2271958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41599383G>A ENST00000262415.3 + 22 3335 DHX8_ENST00000540306.1_Intron NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 NA NA ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) TGAAAGCTGAGTGGGCTCATA 0.498 NA G||| 1134 0.226438 0.143 0.2363 5008 , , NA 20740 0.3244 NA 0.2276 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NSCLC(56;1548 1661 49258 49987) NA 0 G 633,3773 272.2+/-270.6 57,519,1627 172 163 166 -3.8 0 17 dbSNP_100 166 2198,6402 374.9+/-337.6 293,1612,2395 no intron DHX8 NM_004941.1 350,2131,4022 AA,AG,GG 25.5581,14.3668,21.7669 41599383 2831,10175 2203 4300 6503 SO:0001627 intron_variant D50487 CCDS11464.1 17q21.31 2005-08-19 2003-06-13 2003-06-20 ENSG00000067596 1659 DEAH-boxes 2749 protein-coding gene gene with protein product 600396 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase) DDX8 NA 7935475 Standard NM_004941 NA Approved HRH1, PRP22, PRPF22 uc002idu.1 Q14562 ENST00000262415.3:c.3264-32G>A chr17.hg19:g.41599383G>A NA hg19 CCDS11464.1 0.02 4.454392 TGAxTGG COVERED NOVEL DHX8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453485.1 1 8.126907 KEEP 0 0 0 27 993 GG 0.999988 0.999972 0 + 5 60 180 0 0 11.660757 100 60 3768 159 ENST00000262415.3 0.047619 0.999984 MEOX1 4222 __UNKNOWN__ __UNKNOWN__ 17 41718063 41718063 __UNKNOWN__ 3'UTR SNP C C T rs11422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41718063C>T ENST00000318579.4 - 0 2399 MEOX1_ENST00000329168.3_3'UTR NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 NA NA multicellular organismal development (GO:0007275)|somite specification (GO:0001757) nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) GGGCTTCAGTCCCCCATGCTC 0.537 NA C||| 669 0.133586 0.0219 0.2767 5008 , , NA 18509 0.2004 NA 0.1451 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11466.1, CCDS11467.1, CCDS42343.1 17q21.31 2014-07-15 2005-12-22 4222 Homeoboxes / ANTP class : HOXL subclass 7013 protein-coding gene gene with protein product 600147 mesenchyme homeo box 1 NA 7987315 Standard NM_013999 NA Approved MOX1 uc002idz.3 P50221 OTTHUMG00000170513 ENST00000318579.4:c.*1215G>A chr17.hg19:g.41718063C>T NA A8K524|A8MWF9|Q15069 hg19 CCDS11466.1 0.02 8.481572 AGTxCCC COVERED NOVEL MEOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000409452.1 2 17.451367 KEEP 0 0 0 58 1971 CC 1 1 0 - 8 60 285 0 0 17.707298 194 60 7104 297 ENST00000318579.4 0.039604 1 MPP2 4355 __UNKNOWN__ __UNKNOWN__ 17 41987062 41987062 __UNKNOWN__ 5'UTR SNP A A G rs3744416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:41987062A>G ENST00000518766.1 - 0 6 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) NA NA nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) guanylate kinase activity (GO:0004385) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GTATCTCTCTAATAAAGGCCT 0.483 NA OREG0024444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1588 0.317093 0.1626 0.3343 5008 , , NA 17824 0.3462 NA 0.493 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1 17q12-q21 2008-07-18 ENSG00000108852 ENSG00000108852 4355 7220 protein-coding gene gene with protein product MAGUK p55 subfamily member 2, discs large, homolog 2 600723 DLG2 NA 7590743 Standard NM_005374 NM_001278370 NA Approved DKFZp761D0712 uc002ieo.1 Q14168 OTTHUMG00000133840 ENST00000518766.1:c.-51T>C chr17.hg19:g.41987062A>G 905 B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2 hg19 0.02 13.355942 TCTxATA COVERED NOVEL MPP2-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000380313.1 2 29.785175 KEEP 0 0 0 99 3010 AA 1 1 0 - 11 60 404 0 0 24.92748 305 60 10896 529 ENST00000518766.1 0.03481 1 PYY 5697 __UNKNOWN__ __UNKNOWN__ 17 42030409 42030409 __UNKNOWN__ 3'UTR SNP G G A rs162430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42030409G>A ENST00000592796.1 - 0 427 PYY_ENST00000360085.2_Intron P10082 PYY_HUMAN peptide YY NA NA cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179) endometrium(1)|ovary(1) 2 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.12) ACGTCGTTAAGTGATGTTGCC 0.662 NA G||| 1830 0.365415 0.4781 0.2954 5008 , , NA 16969 0.6627 NA 0.0934 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 GRCh37 CS035721 PYY S rs162430 G 603,781 140,323,229 55 58 57 2.2 0.1 17 dbSNP_79 57 306,2876 15,276,1300 no intron PYY NM_004160.4 155,599,1529 AA,AG,GG 9.6166,43.5694,19.908 42030409 909,3657 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS32662.1 17q21.1 2013-02-28 ENSG00000131096 5697 Endogenous ligands 9748 protein-coding gene gene with protein product prepro-PYY 600781 NA 7782089 Standard NM_004160 NM_004160 NA Approved PYY1 uc002ieq.3 P10082 ENST00000592796.1:c.*64C>T chr17.hg19:g.42030409G>A NA Q5U5Q6|Q6FGH8 hg19 0.02 18.272814 TAAxTGA COVERED NOVEL PYY-002 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000457659.1 0 14.082317 KEEP 0 1 35 59 2160 GG 1 1 0 - 24 60 854 0 0 56.885829 400 60 15101 605 ENST00000592796.1 0.056604 1 G6PC3 92579 __UNKNOWN__ __UNKNOWN__ 17 42152103 42152103 __UNKNOWN__ Silent SNP G G A rs3815076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42152103G>A ENST00000269097.4 + 3 612 c.381G>A c.(379-381)acG>acA p.T127T NM_138387.3 NP_612396.1 Q9BUM1 G6PC3_HUMAN glucose 6 phosphatase, catalytic, 3 127 NA carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucose-6-phosphatase activity (GO:0004346) endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 11 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) CCATAATGACGGCCCTGTCTT 0.587 NA G||| 1352 0.269968 0.0908 0.3213 5008 , , NA 18006 0.7093 NA 0.0825 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 G 469,3937 219.7+/-237.4 28,413,1762 39 38 38 381 -10.1 0.2 17 dbSNP_107 38 641,7959 163.5+/-216.0 27,587,3686 no coding-synonymous G6PC3 NM_138387.3 55,1000,5448 AA,AG,GG 7.4535,10.6446,8.5345 127/347 42152103 1110,11896 2203 4300 6503 SO:0001819 synonymous_variant BC021574 CCDS11476.1 17q21.31 2014-09-17 ENSG00000141349 92579 24861 protein-coding gene gene with protein product 611045 NA 12370122, 12965222 Standard NM_138387 NM_138387 NA Approved UGRP uc002iex.3 Q9BUM1 ENST00000269097.4:c.381G>A chr17.hg19:g.42152103G>A NA Q8WU15 hg19 CCDS11476.1 0.02 9.299673 GACxGCC COVERED NOVEL G6PC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457675.1 1 5.923561 KEEP 0 3 98 54 1847 GG 1 1 0 + 8 60 288 0 0 17.862131 203 60 7032 327 ENST00000269097.4 0.037915 1 C17orf53 78995 __UNKNOWN__ __UNKNOWN__ 17 42225547 42225547 __UNKNOWN__ Missense_Mutation SNP A A C rs227584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42225547A>C ENST00000585683.1 + 3 611 c.376A>C c.(376-378)Aca>Cca p.T126P C17orf53_ENST00000245382.6_Missense_Mutation_p.T126P|C17orf53_ENST00000319977.4_Missense_Mutation_p.T126P Q8N3J3 CQ053_HUMAN chromosome 17 open reading frame 53 126 NA T -> P (in dbSNP:rs227584). {ECO:0000269|PubMed:15489334}. NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) GCTCAGAGAGACAGCAAGACC 0.522 NA C||| 2887 0.576478 0.9047 0.4582 5008 , , NA 20956 0.7589 NA 0.2992 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C PRO/THR,PRO/THR 3497,909 350.8+/-311.0 1401,695,107 130 136 134 http://www.ncbi.nlm.nih.gov/pubmed?term 376,376 1.5 0.7 17 dbSNP_79 134 2666,5934 685.3+/-404.0 417,1832,2051 yes missense,missense C17orf53 NM_001171251.1,NM_024032.3 38,38 1818,2527,2158 CC,CA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 31.0,20.631,47.3858 benign,benign 126/647,126/648 42225547 6163,6843 2203 4300 6503 SO:0001583 missense AK021656 CCDS11477.1, CCDS59293.1 17q21.31 2012-10-11 ENSG00000125319 ENSG00000125319 78995 28460 protein-coding gene gene with protein product NA Standard NM_024032 NM_001171251 NA Approved MGC3130 uc002ifi.2 Q8N3J3 OTTHUMG00000181808 ENST00000585683.1:c.376A>C chr17.hg19:g.42225547A>C ENSP00000466618:p.Thr126Pro NA A8K7A9|Q9BWM9|Q9HAI1 hg19 CCDS59293.1 0.02 9.799239 GAGxCAG COVERED 1253 0.5737179487179487 445 0.9044715447154471 149 0.4116022099447514 424 0.7412587412587412 235 0.3100263852242744 C 0.355 -0.942870 0.02322 0.79369 0.31 ENSG00000125319 ENST00000319977;ENST00000245382 T;T 0.42513 0.97;0.97 4.61 1.5 0.22942 . 0.782162 0.11770 N 0.531181 T 0.00012 0.0000 N 0.00308 -1.67 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.33343 -0.9872 9 0.02654 T 1 -1.4987 3.1789 0.06578 0.319:0.4178:0.0:0.2632 rs227584;rs3744431;rs17844825;rs17857536;rs57825870;rs227584 126;126;126 A8K7A9;Q8N3J3-3;Q8N3J3 .;.;CQ053_HUMAN P 126 ENSP00000313500:T126P;ENSP00000245382:T126P ENSP00000245382:T126P T + 1 0 C17orf53 39581073 0.082000 0.21442 0.737000 0.30932 0.059000 0.15707 0.105000 0.15333 0.023000 0.15187 -0.217000 0.12591 ACA NOVEL C17orf53-001 NOVEL NAGNAG_splice_site|basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000457698.1 3 16.668502 KEEP 0 1 36 68 2082 AA 1 1 0 + 12 60 399 0 0 24.305241 278 60 9851 438 ENST00000585683.1 0.041379 1 ASB16 92591 __UNKNOWN__ __UNKNOWN__ 17 42254011 42254011 __UNKNOWN__ Intron SNP C C G rs7220138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42254011C>G ENST00000293414.1 + 3 653 ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GGACCTCAAGCTGAGAGGGGT 0.537 NA G||| 2605 0.520168 0.7057 0.4452 5008 , , NA 15393 0.752 NA 0.2972 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 G , 2752,1654 506.9+/-366.5 871,1010,322 90 89 89 , 0.9 0 17 dbSNP_116 89 2662,5938 685.3+/-404.0 416,1830,2054 no intron,utr-3 ASB16,C17orf65 NM_080863.4,NM_178542.3 , 1287,2840,2376 GG,GC,CC 30.9535,37.5397,41.6269 , , 42254011 5414,7592 2203 4300 6503 SO:0001627 intron_variant AK054727 CCDS11478.1 17q21.31 2013-01-10 2011-01-25 ENSG00000161664 ENSG00000161664 92591 Ankyrin repeat domain containing 19768 protein-coding gene gene with protein product 615056 ankyrin repeat and SOCS box-containing 16 NA 12076535 Standard NM_080863 NA Approved FLJ30165 uc002ifl.1 Q96NS5 OTTHUMG00000181809 ENST00000293414.1:c.570-95C>G chr17.hg19:g.42254011C>G NA B2RBC0|Q8WXK0 hg19 CCDS11478.1 0.02 4.487444 AAGxTGA COVERED NOVEL ASB16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457703.1 2 8.126454 KEEP 0 0 0 27 966 CC 0.999988 0.999987 0 + 6 60 221 0 0 14.533055 118 60 4484 185 ENST00000293414.1 0.048387 0.999999 ASB16 92591 __UNKNOWN__ __UNKNOWN__ 17 42255097 42255097 __UNKNOWN__ Intron SNP T T C rs3826412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42255097T>C ENST00000293414.1 + 4 1260 ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GAAGGTATGTTTGCCTCAGGG 0.622 NA C||| 2873 0.573682 0.9009 0.4597 5008 , , NA 13878 0.752 NA 0.2992 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 C , 3482,924 350.5+/-310.9 1389,704,110 97 78 84 , 3.8 0.3 17 dbSNP_107 84 2667,5933 682.9+/-403.8 417,1833,2050 no intron,utr-5 ASB16,C17orf65 NM_080863.4,NM_178542.3 , 1806,2537,2160 CC,CT,TT 31.0116,20.9714,47.2782 , , 42255097 6149,6857 2203 4300 6503 SO:0001627 intron_variant AK054727 CCDS11478.1 17q21.31 2013-01-10 2011-01-25 ENSG00000161664 ENSG00000161664 92591 Ankyrin repeat domain containing 19768 protein-coding gene gene with protein product 615056 ankyrin repeat and SOCS box-containing 16 NA 12076535 Standard NM_080863 NA Approved FLJ30165 uc002ifl.1 Q96NS5 OTTHUMG00000181809 ENST00000293414.1:c.1176+7T>C chr17.hg19:g.42255097T>C NA B2RBC0|Q8WXK0 hg19 CCDS11478.1 0.02 11.118207 TGTxTGC COVERED NOVEL ASB16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457703.1 0 6.187275 KEEP 0 2 70 45 1402 TT 1 1 0 + 10 60 372 1 0 23.309839 266 60 9331 407 ENST00000293414.1 0.036232 1 ASB16 92591 __UNKNOWN__ __UNKNOWN__ 17 42255127 42255127 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42255127C>G ENST00000293414.1 + 4 1260 ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GGAGGAGGGACGAGCCACAGG 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 47 39 42 NA NA 17 NA 42255127 2203 4300 6503 SO:0001627 intron_variant AK054727 CCDS11478.1 17q21.31 2013-01-10 2011-01-25 ENSG00000161664 ENSG00000161664 92591 Ankyrin repeat domain containing 19768 protein-coding gene gene with protein product 615056 ankyrin repeat and SOCS box-containing 16 NA 12076535 Standard NM_080863 NA Approved FLJ30165 uc002ifl.1 Q96NS5 OTTHUMG00000181809 ENST00000293414.1:c.1176+37C>G chr17.hg19:g.42255127C>G NA B2RBC0|Q8WXK0 hg19 CCDS11478.1 0.02 1.873465 GGAxGAG COVERED NOVEL ASB16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457703.1 0 5.901124 KEEP 0 0 0 20 500 CC 0.999869 0.999869 0 + 22 60 273 0 0 10.564123 151 60 3414 249 ENST00000293414.1 0.127168 1 UBTF 7343 __UNKNOWN__ __UNKNOWN__ 17 42287519 42287519 __UNKNOWN__ Silent SNP C C T rs2071167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42287519C>T ENST00000302904.4 - 15 2091 c.1599G>A c.(1597-1599)aaG>aaA p.K533K UBTF_ENST00000526094.1_Silent_p.K496K|UBTF_ENST00000529383.1_Silent_p.K533K|UBTF_ENST00000343638.5_Silent_p.K496K|UBTF_ENST00000393606.3_Silent_p.K496K|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_Silent_p.K533K|UBTF_ENST00000527034.1_Silent_p.K496K|UBTF_ENST00000533177.1_Silent_p.K496K P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 533 NA chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CTTCGGCTGCCTTCTTAATCC 0.512 NA OREG0024456 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2261 0.451478 0.6157 0.3646 5008 , , NA 21021 0.6915 NA 0.2416 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 C ,, 2335,2071 605.8+/-390.6 617,1101,485 187 195 192 1488,1488,1599 3.3 1 17 dbSNP_96 192 2174,6426 372.0+/-336.5 280,1614,2406 no coding-synonymous,coding-synonymous,coding-synonymous UBTF NM_001076683.1,NM_001076684.2,NM_014233.3 ,, 897,2715,2891 TT,TC,CC 25.2791,47.0041,34.6686 ,, 496/728,496/728,533/765 42287519 4509,8497 2203 4300 6503 SO:0001819 synonymous_variant BC042297 CCDS11480.1, CCDS42346.1 17q21.31 2014-03-25 ENSG00000108312 ENSG00000108312 7343 12511 protein-coding gene gene with protein product 600673 NA 9126496 Standard NM_014233 NM_001076683 NA Approved UBF, NOR-90, UBF1, UBF2 uc010czs.3 P17480 OTTHUMG00000167585 ENST00000302904.4:c.1599G>A chr17.hg19:g.42287519C>T 907 A8K6R8 hg19 CCDS11480.1 0.02 11.292832 TGCxTTC COVERED NOVEL UBTF-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395205.1 2 23.346682 KEEP 0 2 67 101 3621 CC 1 1 0 - 11 60 408 0 0 26.347744 245 60 9162 450 ENST00000302904.4 0.042969 1 UBTF 7343 __UNKNOWN__ __UNKNOWN__ 17 42294198 42294198 __UNKNOWN__ Intron SNP G G C rs2269908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42294198G>C ENST00000302904.4 - 3 551 UBTF_ENST00000526094.1_Intron|UBTF_ENST00000529383.1_Intron|UBTF_ENST00000343638.5_Intron|UBTF_ENST00000393606.3_Intron|UBTF_ENST00000436088.1_Intron|UBTF_ENST00000527034.1_Intron|UBTF_ENST00000533177.1_Intron|UBTF_ENST00000537550.1_Intron P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I NA NA chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CCCATCTGAAGGCACAGACAA 0.552 NA G||| 2959 0.590855 0.9576 0.4496 5008 , , NA 21439 0.753 NA 0.3191 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC042297 CCDS11480.1, CCDS42346.1 17q21.31 2014-03-25 ENSG00000108312 ENSG00000108312 7343 12511 protein-coding gene gene with protein product 600673 NA 9126496 Standard NM_014233 NM_001076683 NA Approved UBF, NOR-90, UBF1, UBF2 uc010czs.3 P17480 OTTHUMG00000167585 ENST00000302904.4:c.59-126C>G chr17.hg19:g.42294198G>C NA A8K6R8 hg19 CCDS11480.1 0.02 5.112543 GAAxGCA COVERED NOVEL UBTF-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395205.1 1 17.454154 KEEP 0 0 0 58 1913 GG 1 1 0 - 10 60 322 1 0 20.574444 156 60 5611 238 ENST00000302904.4 0.060241 1 UBTF 7343 __UNKNOWN__ __UNKNOWN__ 17 42294215 42294215 __UNKNOWN__ Intron SNP G G A rs2269907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42294215G>A ENST00000302904.4 - 3 551 UBTF_ENST00000526094.1_Intron|UBTF_ENST00000529383.1_Intron|UBTF_ENST00000343638.5_Intron|UBTF_ENST00000393606.3_Intron|UBTF_ENST00000436088.1_Intron|UBTF_ENST00000527034.1_Intron|UBTF_ENST00000533177.1_Intron|UBTF_ENST00000537550.1_Intron P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I NA NA chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361) nucleolus (GO:0005730)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) ACAAGATATGGCTCAGCCCta 0.547 NA G||| 2959 0.590855 0.9576 0.4496 5008 , , NA 21584 0.753 NA 0.3191 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC042297 CCDS11480.1, CCDS42346.1 17q21.31 2014-03-25 ENSG00000108312 ENSG00000108312 7343 12511 protein-coding gene gene with protein product 600673 NA 9126496 Standard NM_014233 NM_001076683 NA Approved UBF, NOR-90, UBF1, UBF2 uc010czs.3 P17480 OTTHUMG00000167585 ENST00000302904.4:c.59-143C>T chr17.hg19:g.42294215G>A NA A8K6R8 hg19 CCDS11480.1 0.02 3.865573 ATGxCTC COVERED NOVEL UBTF-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395205.1 1 11.134956 KEEP 0 0 0 37 1241 GG 1 1 0 - 8 60 288 0 0 19.35538 130 60 4754 177 ENST00000302904.4 0.057971 1 SLC4A1 6521 __UNKNOWN__ __UNKNOWN__ 17 42327493 42327493 __UNKNOWN__ 3'UTR SNP G G T rs2072081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42327493G>T ENST00000262418.6 - 0 3224 NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 (Diego blood group) NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018) anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCCACCTCCTGCCTTTGCTTC 0.547 NA G||| 2236 0.446486 0.5946 0.3473 5008 , , NA 18208 0.6944 NA 0.2326 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11481.1 17q21.31 2014-07-19 2014-01-02 ENSG00000004939 ENSG00000004939 6521 CD molecules, Blood group antigens, Solute carriers 11027 protein-coding gene gene with protein product Froese blood group, Swann blood group, Wright blood group 109270 Waldner blood group, erythrocyte membrane protein band 3, Diego blood group, solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), solute carrier family 4 (anion exchanger), member 1 EPB3, AE1, DI, WD NA 8434259 Standard NM_000342 NM_000342 NA Approved RTA1A, CD233, FR, SW, WR uc002igf.4 P02730 OTTHUMG00000156843 ENST00000262418.6:c.*333C>A chr17.hg19:g.42327493G>T NA G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1 hg19 CCDS11481.1 0.02 8.161917 CCTxCCT COVERED NOVEL SLC4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346194.1 2 7.960506 KEEP 0 1 30 37 1313 GG 1 1 0 - 12 60 392 0 0 25.152354 204 60 7591 330 ENST00000262418.6 0.055556 1 SLC4A1 6521 __UNKNOWN__ __UNKNOWN__ 17 42337091 42337091 __UNKNOWN__ Intron SNP C C T rs2857082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42337091C>T ENST00000262418.6 - 7 765 AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 (Diego blood group) NA NA anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018) anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TGCTTGTGGTCGGTTTTTCAG 0.602 NA C||| 1541 0.307708 0.2753 0.2277 5008 , , NA 17625 0.623 NA 0.1431 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11481.1 17q21.31 2014-07-19 2014-01-02 ENSG00000004939 ENSG00000004939 6521 CD molecules, Blood group antigens, Solute carriers 11027 protein-coding gene gene with protein product Froese blood group, Swann blood group, Wright blood group 109270 Waldner blood group, erythrocyte membrane protein band 3, Diego blood group, solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group), solute carrier family 4 (anion exchanger), member 1 EPB3, AE1, DI, WD NA 8434259 Standard NM_000342 NM_000342 NA Approved RTA1A, CD233, FR, SW, WR uc002igf.4 P02730 OTTHUMG00000156843 ENST00000262418.6:c.609+85G>A chr17.hg19:g.42337091C>T NA G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1 hg19 CCDS11481.1 0.02 4.103775 GGTxGGT COVERED NOVEL SLC4A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346194.1 0 3.546251 KEEP 0 1 32 23 778 CC 0.999909 0.999909 0 - 8 60 293 0 0 19.679239 137 60 4746 192 ENST00000262418.6 0.055172 1 GPATCH8 23131 __UNKNOWN__ __UNKNOWN__ 17 42475983 42475983 __UNKNOWN__ Silent SNP G G C rs936019 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42475983G>C ENST00000591680.1 - 8 3492 c.3462C>G c.(3460-3462)acC>acG p.T1154T GPATCH8_ENST00000434000.1_Silent_p.T1076T NM_001002909.2 NP_001002909.1 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1154 NA metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGGGCTTTCGGGTAGCTGGGA 0.562 NA G||| 2462 0.491613 0.4009 0.5937 5008 , , NA 18050 0.497 NA 0.6014 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 G 1816,2588 505.6+/-366.2 383,1050,769 134 140 138 3462 1.7 1 17 dbSNP_86 138 5354,3246 638.5+/-399.3 1659,2036,605 no coding-synonymous GPATCH8 NM_001002909.2 2042,3086,1374 CC,CG,GG 37.7442,41.2352,44.8631 1154/1503 42475983 7170,5834 2202 4300 6502 SO:0001819 synonymous_variant AB011125 CCDS32666.1 17q21.31 2013-01-28 2006-08-22 2006-12-13 ENSG00000186566 ENSG00000186566 23131 G patch domain containing 29066 protein-coding gene gene with protein product 614396 KIAA0553 KIAA0553, GPATC8 NA 9628581 Standard NM_001002909 NM_001002909 NA Approved uc002igw.2 Q9UKJ3 OTTHUMG00000181818 ENST00000591680.1:c.3462C>G chr17.hg19:g.42475983G>C NA B9EGP9|O60300|Q8TB99 hg19 CCDS32666.1 0.02 8.595516 TCGxGTA COVERED NOVEL GPATCH8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457797.1 2 3.183455 KEEP 0 2 76 37 1289 GG 1 1 0 - 8 60 280 0 0 16.857862 215 60 7807 317 ENST00000591680.1 0.035874 1 GPATCH8 23131 __UNKNOWN__ __UNKNOWN__ 17 42501692 42501692 __UNKNOWN__ Intron SNP C C A rs1869495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:42501692C>A ENST00000591680.1 - 6 523 GPATCH8_ENST00000434000.1_Intron NM_001002909.2 NP_001002909.1 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 NA NA metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) GTACCTTCTTCTGTTAGCAAG 0.368 NA C||| 2231 0.445487 0.233 0.5807 5008 , , NA 19941 0.497 NA 0.6014 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 C 1249,3157 431.4+/-342.9 203,843,1157 121 112 115 0.5 0 17 dbSNP_92 115 5348,3252 649.8+/-400.7 1654,2040,606 no intron GPATCH8 NM_001002909.2 1857,2883,1763 AA,AC,CC 37.814,28.3477,49.2773 42501692 6597,6409 2203 4300 6503 SO:0001627 intron_variant AB011125 CCDS32666.1 17q21.31 2013-01-28 2006-08-22 2006-12-13 ENSG00000186566 ENSG00000186566 23131 G patch domain containing 29066 protein-coding gene gene with protein product 614396 KIAA0553 KIAA0553, GPATC8 NA 9628581 Standard NM_001002909 NM_001002909 NA Approved uc002igw.2 Q9UKJ3 OTTHUMG00000181818 ENST00000591680.1:c.492+24G>T chr17.hg19:g.42501692C>A NA B9EGP9|O60300|Q8TB99 hg19 CCDS32666.1 0.02 3.864759 CTTxTGT COVERED NOVEL GPATCH8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457797.1 0 4.212666 KEEP 0 0 0 14 461 CC 0.995343 0.995324 0 - 6 60 214 0 0 14.303645 98 60 3747 126 ENST00000591680.1 0.057692 0.999981 DCAKD 79877 __UNKNOWN__ __UNKNOWN__ 17 43111558 43111558 __UNKNOWN__ Missense_Mutation SNP G G A rs117298907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:43111558G>A ENST00000452796.2 - 2 568 c.313C>T c.(313-315)Cgg>Tgg p.R105W DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000342350.5_Missense_Mutation_p.R105W|DCAKD_ENST00000588499.1_Missense_Mutation_p.R105W|DCAKD_ENST00000310604.4_Missense_Mutation_p.R105W Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 105 DPCK. NA coenzyme A biosynthetic process (GO:0015937) membrane (GO:0016020)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140) cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) CACTTACCCCGGAGGAAGTAC 0.627 NA G||| 151 0.0301518 0.0008 0.0576 5008 , , NA 15892 0.0298 NA 0.0129 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 G TRP/ARG,TRP/ARG 9,4397 15.5+/-35.6 0,9,2194 49 52 51 313,313 5.2 1 17 dbSNP_132 51 44,8556 29.0+/-79.6 0,44,4256 yes missense,missense DCAKD NM_001128631.1,NM_024819.4 101,101 0,53,6450 AA,AG,GG 0.5116,0.2043,0.4075 probably-damaging,probably-damaging 105/232,105/232 43111558 53,12953 2203 4300 6503 SO:0001583 missense BC006546 CCDS11493.1 17q21.31 2005-12-20 ENSG00000172992 79877 26238 protein-coding gene gene with protein product NA Standard NM_024819 XM_005257688 NA Approved FLJ22955 uc010daa.1 Q8WVC6 ENST00000452796.2:c.313C>T chr17.hg19:g.43111558G>A ENSP00000413483:p.Arg105Trp NA A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1 hg19 CCDS11493.1 0.02 6.168112 CCCxGAG COVERED 54 0.024725274725274724 2 0.0040650406504065045 15 0.04143646408839779 25 0.043706293706293704 12 0.0158311345646438 G 25.4 4.635751 0.87760 0.002043 0.005116 ENSG00000172992 ENST00000342350;ENST00000452796;ENST00000310604 T;T;T 0.51071 0.92;0.92;0.72 5.15 5.15 0.70609 . 0.539513 0.21531 N 0.073051 T 0.33411 0.0862 M 0.70595 2.14 0.36639 D 0.87671 D;D 0.71674 0.998;0.995 P;P 0.58970 0.827;0.849 T 0.62220 -0.6900 10 0.52906 T 0.07 . 18.8172 0.92081 0.0:0.0:1.0:0.0 . 105;105 Q8WVC6-2;Q8WVC6 .;DCAKD_HUMAN W 105 ENSP00000341504:R105W;ENSP00000413483:R105W;ENSP00000308515:R105W ENSP00000308515:R105W R - 1 2 DCAKD 40467084 0.950000 0.32346 1.000000 0.80357 0.805000 0.45488 3.829000 0.55760 2.677000 0.91161 0.561000 0.74099 CGG NOVEL DCAKD-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449066.1 4 21.665203 KEEP 0 0 0 72 2364 GG 1 1 0 - 8 60 283 0 0 17.875146 174 60 5877 327 ENST00000452796.2 0.043956 1 NMT1 4836 __UNKNOWN__ __UNKNOWN__ 17 43173516 43173516 __UNKNOWN__ Intron SNP A A G rs8073097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:43173516A>G ENST00000592782.1 + 6 635 NMT1_ENST00000590114.1_Intron|NMT1_ENST00000258960.2_Intron P30419 NMT1_HUMAN N-myristoyltransferase 1 NA NA apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886) catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379) breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GAGTTGGTCTACTACCTGGCA 0.458 NA A||| 193 0.0385383 0.003 0.0533 5008 , , NA 20357 0.0367 NA 0.0467 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 A 38,4368 41.6+/-74.8 1,36,2166 91 83 86 -1.5 0 17 dbSNP_116 86 163,8437 77.5+/-140.1 1,161,4138 no intron NMT1 NM_021079.3 2,197,6304 GG,GA,AA 1.8953,0.8625,1.5454 43173516 201,12805 2203 4300 6503 SO:0001627 intron_variant CCDS11494.1 17q21.31 2012-10-02 ENSG00000136448 ENSG00000136448 4836 7857 protein-coding gene gene with protein product alternative, short form NMT-S, myristoyl-CoA:protein N-myristoyltransferase, long form, NMT-L 160993 NA 1570339 Standard NM_021079 NM_021079 NA Approved NMT uc002ihz.3 P30419 OTTHUMG00000180003 ENST00000592782.1:c.505-46A>G chr17.hg19:g.43173516A>G NA A8K7C1|Q9UE09 hg19 CCDS11494.1 0.02 6.193659 TCTxCTA COVERED NOVEL NMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449239.1 1 18.354637 KEEP 0 0 0 61 1874 AA 1 1 0 + 6 60 226 0 0 14.057206 173 60 6119 292 ENST00000592782.1 0.03352 1 MAP3K14 9020 __UNKNOWN__ __UNKNOWN__ 17 43380666 43380666 __UNKNOWN__ RNA SNP A A C rs7221403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:43380666A>C ENST00000344686.2 - 0 89 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 NA NA cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295) cytosol (GO:0005829) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 gtggctcatgactgtaatccc 0.483 NA C||| 2989 0.596845 0.5643 0.6657 5008 , , NA 18635 0.8591 NA 0.4761 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Y10256 CCDS74079.1 17q21.31 2014-06-16 ENSG00000006062 ENSG00000006062 9020 2.7.11.25 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6853 protein-coding gene gene with protein product serine/threonine protein-kinase 604655 NA 9020361 Standard NM_003954 NM_003954 NA Approved NIK, HSNIK, FTDCR1B, HS uc002iiw.1 Q99558 OTTHUMG00000180364 ENST00000344686.2: chr17.hg19:g.43380666A>C NA A8K2D8|D3DX67|Q8IYN1 hg19 0.02 -0.043866 ATGxCTG UNCOVERED NOVEL MAP3K14-201 KNOWN basic processed_transcript NA processed_transcript 5 3.31012 KEEP 0 0 0 11 351 AA 0.993072 0.023907 0 - 2 60 73 0 0 6.792797 3 60 107 16 ENST00000344686.2 0.4 0.024074 RP11-259G18.1 0 __UNKNOWN__ __UNKNOWN__ 17 44344769 44344769 __UNKNOWN__ RNA SNP C C G rs3744462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:44344769C>G ENST00000570002.2 + 0 367 NA NA NA TCGGGACGGGCTGTACAAGAT 0.567 NA .||| 258 0.0515176 0.0008 0.0634 5008 , , NA 17968 0.1558 NA 0.0348 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000570002.2: chr17.hg19:g.44344769C>G NA hg19 0.02 16.382586 GGGxTGT COVERED NOVEL RP11-259G18.1-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000431423.2 2 45.395629 KEEP 0 1 11 155 5592 CC 1 1 0 + 13 60 495 0 0 31.484657 343 60 13060 690 ENST00000570002.2 0.036517 1 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45196481 45196481 __UNKNOWN__ 3'UTR SNP A A G rs150229852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45196481A>G ENST00000066544.3 - 0 4388 NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 NA NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 Caattaaaaaaataaaagaat 0.318 NA A||| 22 0.00439297 0.0 0.0 5008 , , NA 15642 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000066544.3:c.*1820T>C chr17.hg19:g.45196481A>G NA G3V1C4|Q16349|Q96F35 hg19 CCDS11509.1 0.02 4.769442 AAAxATA COVERED NOVEL CDC27-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000389742.2 3 11.732831 KEEP 0 0 0 39 1203 AA 1 0.999999 0 - 6 60 226 0 0 14.990881 120 60 4284 196 ENST00000066544.3 0.047619 1 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45214564 45214564 __UNKNOWN__ Missense_Mutation SNP A A T rs201184967 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45214564A>T ENST00000531206.1 - 14 1888 c.1885T>A c.(1885-1887)Tgt>Agt p.C629S CDC27_ENST00000527547.1_Missense_Mutation_p.C622S|CDC27_ENST00000066544.3_Missense_Mutation_p.C623S|CDC27_ENST00000446365.2_Missense_Mutation_p.C562S P30260 CDC27_HUMAN cell division cycle 27 623 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTTCGAAAACAAGCTAATGCT 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 59 61 60 NA NA 17 NA 45214564 2203 4300 6503 SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.1885T>A chr17.hg19:g.45214564A>T ENSP00000434614:p.Cys629Ser NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 34.557919 AACxAGC COVERED . . . . . . . . . . A 15.90 2.968854 0.53614 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547 T;T;T;T 0.36878 1.23;1.23;1.23;1.23 5.81 5.81 0.92471 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.42245 0.1194 L 0.33485 1.01 0.80722 D 1 D;P;P;P 0.55172 0.97;0.698;0.698;0.936 P;B;B;P 0.56751 0.805;0.112;0.112;0.491 T 0.12889 -1.0530 10 0.25751 T 0.34 -10.7595 14.1085 0.65107 1.0:0.0:0.0:0.0 . 562;622;629;623 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN S 623;629;562;622 ENSP00000066544:C623S;ENSP00000434614:C629S;ENSP00000392802:C562S;ENSP00000437339:C622S ENSP00000066544:C623S C - 1 0 CDC27 42569563 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 7.529000 0.81952 2.228000 0.72767 0.477000 0.44152 TGT NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 66 64.22509 KEEP 4 7 224 292 9028 AA 1 1 0 - 16 60 580 0 0 50.00464 48 60 1728 1433 ENST00000531206.1 0.25 1 CDC27 996 __UNKNOWN__ __UNKNOWN__ 17 45214606 45214606 __UNKNOWN__ Missense_Mutation SNP G G T rs79260965 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45214606G>T ENST00000531206.1 - 14 1846 c.1843C>A c.(1843-1845)Cat>Aat p.H615N CDC27_ENST00000527547.1_Missense_Mutation_p.H608N|CDC27_ENST00000066544.3_Missense_Mutation_p.H609N|CDC27_ENST00000446365.2_Missense_Mutation_p.H548N P30260 CDC27_HUMAN cell division cycle 27 609 NA anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) protein phosphatase binding (GO:0019903) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 ACAAACTCATGCCCTAATAGA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 60 63 62 NA NA 17 NA 45214606 2203 4300 6503 SO:0001583 missense U00001 CCDS11509.1, CCDS45720.1, CCDS74090.1 17q21.32 2013-01-17 2013-01-17 ENSG00000004897 ENSG00000004897 996 Anaphase promoting complex subunits, Tetratricopeptide (TTC) repeat domain containing 1728 protein-coding gene gene with protein product anaphase promoting complex subunit 3 116946 cell division cycle 27, cell division cycle 27 homolog (S. cerevisiae) D0S1430E, D17S978E NA 8234252 Standard XM_005257892 NA Approved APC3, ANAPC3, NUC2 uc002ile.4 P30260 OTTHUMG00000166429 ENST00000531206.1:c.1843C>A chr17.hg19:g.45214606G>T ENSP00000434614:p.His615Asn NA G3V1C4|Q16349|Q96F35 hg19 CCDS45720.1 0.02 19.369028 CATxCCC COVERED . . . . . . . . . . G 35 5.460249 0.96240 . . ENSG00000004897 ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547 T;T;T;T 0.50813 0.73;0.73;0.73;0.73 5.81 5.81 0.92471 Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1); 0.000000 0.85682 D 0.000000 T 0.72431 0.3459 M 0.93507 3.425 0.80722 D 1 D;D;P;D 0.59767 0.986;0.982;0.95;0.97 P;P;P;P 0.55260 0.772;0.662;0.728;0.705 T 0.79727 -0.1682 10 0.62326 D 0.03 -29.2384 17.5633 0.87913 0.0:0.0:1.0:0.0 . 548;608;615;609 B4DL80;G5EA36;G3V1C4;P30260 .;.;.;CDC27_HUMAN N 609;615;548;608 ENSP00000066544:H609N;ENSP00000434614:H615N;ENSP00000392802:H548N;ENSP00000437339:H608N ENSP00000066544:H609N H - 1 0 CDC27 42569605 1.000000 0.71417 0.998000 0.56505 0.997000 0.91878 9.869000 0.99810 2.761000 0.94854 0.585000 0.79938 CAT NOVEL CDC27-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389745.1 29 39.129947 KEEP 4 3 94 163 5678 GG 1 1 0 - 15 60 547 0 0 45.959822 56 60 2087 723 ENST00000531206.1 0.211268 1 ITGB3 3690 __UNKNOWN__ __UNKNOWN__ 17 45385012 45385012 __UNKNOWN__ Intron SNP C C T rs3809863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45385012C>T ENST00000559488.1 + 14 2317 RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000560629.1_Intron|ITGB3_ENST00000435993.2_Intron NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) NA NA activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060) alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587) cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775) CAGTAAGAGACGGGGCTGGGC 0.488 NA C||| 1998 0.398962 0.497 0.3487 5008 , , NA 18872 0.252 NA 0.4642 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 C 2138,2268 574.8+/-383.8 514,1110,579 42 33 36 0.5 0 17 dbSNP_107 36 4092,4508 553.5+/-386.3 983,2126,1191 no intron ITGB3 NM_000212.2 1497,3236,1770 TT,TC,CC 47.5814,48.5247,47.901 45385012 6230,6776 2203 4300 6503 SO:0001627 intron_variant CCDS11511.1 17q21.32 2014-09-17 ENSG00000259207 ENSG00000259207 3690 CD molecules, Integrins 6156 protein-coding gene gene with protein product platelet glycoprotein IIIa 173470 GP3A NA 2454952 Standard NM_000212 NM_000212 NA Approved CD61, GPIIIa uc002ilj.3 P05106 OTTHUMG00000171956 ENST00000559488.1:c.2301+9C>T chr17.hg19:g.45385012C>T NA A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499 hg19 CCDS11511.1 0.02 4.344279 AGAxGGG COVERED NOVEL ITGB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416111.3 2 17.755194 KEEP 0 0 0 59 2031 CC 1 1 0 + 7 60 259 0 0 17.430463 122 60 4234 250 ENST00000559488.1 0.054264 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45668087 45668087 __UNKNOWN__ Nonsense_Mutation SNP G G A rs376523771 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45668087G>A ENST00000322157.4 + 10 1337 c.1100G>A c.(1099-1101)tGg>tAg p.W367* NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W363*|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W287* NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 367 NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TTTTAGGAATGGTGGACTCAT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 78 71 73 NA NA 17 NA 45668087 1824 4076 5900 SO:0001587 stop_gained Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.1100G>A chr17.hg19:g.45668087G>A ENSP00000320324:p.Trp367* NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 10.00238 AATxGTG COVERED . . . . . . . . . . G 25.5 4.640414 0.87859 . . ENSG00000141279 ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360 . . . 5.75 5.75 0.90469 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 19.9233 0.97095 0.0:0.0:1.0:0.0 . . . . X 363;367;354;287;50;64 . ENSP00000320324:W367X W + 2 0 NPEPPS 43023086 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 9.703000 0.98714 2.704000 0.92352 0.591000 0.81541 TGG NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 2 2.810236 KEEP 94 3 75 36 1247 GG 0.999909 0.999909 0 + 12 27 435 0 0 27.777321 265 60 10028 421 ENST00000322157.4 0.043321 1 NPEPPS 9520 __UNKNOWN__ __UNKNOWN__ 17 45669359 45669359 __UNKNOWN__ Missense_Mutation SNP T T G rs200616431 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45669359T>G ENST00000322157.4 + 11 1535 c.1298T>G c.(1297-1299)tTt>tGt p.F433C NPEPPS_ENST00000530173.1_Missense_Mutation_p.F429C|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.F353C NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 433 NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) p.F433C(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 GATGAGATATTTGATGCTATA 0.383 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) upper_aerodigestive_tract(1) 123 78 93 NA NA 17 NA 45669359 2020 4149 6169 SO:0001583 missense Y07701 CCDS45721.1 17q12-q21 2008-07-18 ENSG00000141279 ENSG00000141279 9520 3.4.11.2 7900 protein-coding gene gene with protein product puromycin-sensitive aminopeptidase, metalloproteinase MP100 606793 NA 9048733, 10329370 Standard NM_006310 NM_006310 NA Approved PSA, MP100 uc002ilr.4 P55786 OTTHUMG00000165471 ENST00000322157.4:c.1298T>G chr17.hg19:g.45669359T>G ENSP00000320324:p.Phe433Cys NA B7Z463|Q6P145|Q9NP16|Q9UEM2 hg19 CCDS45721.1 0.02 33.421262 TATxTGA COVERED . . . . . . . . . . T 24.3 4.519381 0.85495 . . ENSG00000141279 ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360 T;T;T;T;T 0.09911 2.93;2.93;2.93;2.93;2.93 5.51 5.51 0.81932 Peptidase M1, membrane alanine aminopeptidase, N-terminal (2); 0.000000 0.85682 D 0.000000 T 0.54532 0.1864 H 0.99435 4.565 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 T 0.76427 -0.2963 10 0.87932 D 0 . 15.6257 0.76855 0.0:0.0:0.0:1.0 . 433;429;433 A6NEC2;E9PLK3;P55786 PSAL_HUMAN;.;PSA_HUMAN C 429;433;420;353;116;130 ENSP00000433287:F429C;ENSP00000320324:F433C;ENSP00000442461:F353C;ENSP00000435639:F116C;ENSP00000435966:F130C ENSP00000320324:F433C F + 2 0 NPEPPS 43024358 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.850000 0.86915 2.099000 0.63709 0.528000 0.53228 TTT NOVEL NPEPPS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384269.1 3 11.817836 KEEP 18 8 280 137 4389 TT 1 1 0 + 84 60 3193 0 0 248.143663 612 60 22365 1093 ENST00000322157.4 0.12069 1 TBKBP1 9755 __UNKNOWN__ __UNKNOWN__ 17 45788076 45788076 __UNKNOWN__ 3'UTR SNP G G T rs188825452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:45788076G>T ENST00000361722.3 + 0 2781 NM_014726.2 NP_055541.1 TBK1 binding protein 1 NA NA endometrium(5)|kidney(1)|lung(1) 7 TGAATCTCGTGGGGGGTCCCT 0.577 NA G||| 17 0.00339457 0.0 0.0 5008 , , NA 18388 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB018318 CCDS45722.1 17q21.32 2012-05-17 ENSG00000198933 9755 30140 protein-coding gene gene with protein product 608476 NA 14743216, 19481056 Standard NM_014726 NM_014726 NA Approved ProSAPiP2, KIAA0775 uc002ilu.3 A7MCY6 ENST00000361722.3:c.*84G>T chr17.hg19:g.45788076G>T NA hg19 CCDS45722.1 0.02 8.491774 CGTxGGG COVERED NOVEL TBKBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441363.1 0 9.631423 KEEP 0 0 0 32 1151 GG 0.999997 0.999997 0 + 8 60 296 0 0 18.823141 193 60 6979 275 ENST00000361722.3 0.039801 1 COPZ2 51226 __UNKNOWN__ __UNKNOWN__ 17 46114620 46114620 __UNKNOWN__ Intron SNP C C T rs12940701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46114620C>T ENST00000584666.1 - 2 112 COPZ2_ENST00000006101.4_Intron Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126) lung(3)|upper_aerodigestive_tract(1) 4 GACAGCGGGCCGAGCCTCCTT 0.662 NA OREG0024511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1446 0.288738 0.1906 0.3977 5008 , , NA 15429 0.2589 NA 0.2823 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 C 577,2487 74,429,1029 18 19 19 0.1 0.6 17 dbSNP_121 19 1991,5099 303,1385,1857 no intron COPZ2 NM_016429.2 377,1814,2886 TT,TC,CC 28.0818,18.8316,25.2905 46114620 2568,7586 1532 3545 5077 SO:0001627 intron_variant AB037938 CCDS74092.1 17q21.2 2008-07-18 ENSG00000005243 51226 19356 protein-coding gene gene with protein product nonclathrin coat protein zeta-COP, zeta2-COP, zeta-2 coat protein 615526 NA 11056392 Standard NM_016429 NM_016429 NA Approved MGC23008 uc002imy.3 Q9P299 ENST00000584666.1:c.780-329G>A chr17.hg19:g.46114620C>T 936 hg19 0.02 4.891307 GGCxGAG COVERED NOVEL COPZ2-001 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000442953.1 1 18.051355 KEEP 0 0 0 60 2041 CC 1 0.999968 0 - 9 60 353 0 0 26.42774 92 60 3115 221 ENST00000584666.1 0.089109 0.999968 CBX1 10951 __UNKNOWN__ __UNKNOWN__ 17 46147945 46147945 __UNKNOWN__ 3'UTR SNP G G A rs8438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46147945G>A ENST00000393408.3 - 0 1890 CBX1_ENST00000225603.4_3'UTR NM_006807.4 NP_006798.1 P83916 CBX1_HUMAN chromobox homolog 1 NA NA negative regulation of transcription, DNA-templated (GO:0045892) chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819) chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226) breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 TTATAACTTCGTTACTGGAAA 0.443 NA G||| 1287 0.256989 0.1778 0.2968 5008 , , NA 19320 0.2827 NA 0.2247 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NSCLC(136;694 2497 38792 39034) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U35451 CCDS11525.1 17q21.32 2010-07-06 2010-06-24 ENSG00000108468 ENSG00000108468 10951 1551 protein-coding gene gene with protein product HP1 beta homolog (Drosophila ) 604511 chromobox homolog 1 (Drosophila HP1 beta) NA 9169582 Standard NM_006807 NM_001127228 NA Approved HP1Hs-beta, M31, MOD1, CBX, HP1-BETA uc002ind.4 P83916 OTTHUMG00000150417 ENST00000393408.3:c.*852C>T chr17.hg19:g.46147945G>A NA P23197 hg19 CCDS11525.1 0.02 34.172636 TTCxTTA COVERED NOVEL CBX1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318016.1 2 34.905373 KEEP 0 0 0 116 3944 GG 1 1 0 - 35 60 1264 0 0 79.8161 813 60 27720 1093 ENST00000393408.3 0.041274 1 HOXB6 3216 __UNKNOWN__ __UNKNOWN__ 17 46673172 46673172 __UNKNOWN__ 3'UTR SNP C C T rs12949454 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46673172C>T ENST00000484302.2 - 0 1900 HOXB6_ENST00000225648.3_3'UTR|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA P17509 HXB6_HUMAN homeobox B6 NA NA anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 ttattatcatcatcatcatca 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11531.1 17q21.32 2011-06-20 2005-12-22 ENSG00000108511 ENSG00000108511 3216 Homeoboxes / ANTP class : HOXL subclass 5117 protein-coding gene gene with protein product 142961 homeo box B6 HOX2, HOX2B NA 1973146, 1358459 Standard XM_005257284 NA Approved uc002ins.1 P17509 OTTHUMG00000159912 ENST00000484302.2:c.*603G>A chr17.hg19:g.46673172C>T NA A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2 hg19 CCDS11531.1 0.02 7.24791 CATxATC COVERED NOVEL HOXB6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358146.2 3 9.062949 KEEP 0 1 31 41 1382 CC 1 1 0 - 8 60 297 0 0 19.270512 174 70 6504 283 ENST00000484302.2 0.043956 1 HOXB7 3217 __UNKNOWN__ __UNKNOWN__ 17 46688135 46688135 __UNKNOWN__ Missense_Mutation SNP G G A rs79247310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46688135G>A ENST00000239165.7 - 1 244 c.146C>T c.(145-147)gCt>gTt p.A49V HOXB7_ENST00000567101.2_Intron NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 49 NA A -> V (in Ref. 2; BAF83342 and 3; BAD96969). {ECO:0000305}. anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 GGCGAAGGAAGCGCCCGAACC 0.687 NA G||| 429 0.0856629 0.0469 0.0216 5008 , , NA 12239 0.2341 NA 0.0497 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 G VAL/ALA 175,4173 1,173,2000 12 15 14 146 4.3 0.9 17 dbSNP_132 14 241,8277 3,235,4021 no missense HOXB7 NM_004502.3 64 4,408,6021 AA,AG,GG 2.8293,4.0248,3.2333 possibly-damaging 49/218 46688135 416,12450 2174 4259 6433 SO:0001583 missense CCDS11532.1 17q21.32 2013-05-22 2005-12-22 3217 Homeoboxes / ANTP class : HOXL subclass 5118 protein-coding gene gene with protein product 142962 homeo box B7 HOX2, HOX2C NA 1973146, 1358459 Standard NM_004502 NA Approved uc002inv.3 P09629 OTTHUMG00000170231 ENST00000239165.7:c.146C>T chr17.hg19:g.46688135G>A ENSP00000239165:p.Ala49Val NA A8K3N8|Q15957|Q53FN3|Q96BQ6 hg19 CCDS11532.1 0.02 10.266856 GAAxCGC COVERED 218 0.09981684981684982 22 0.044715447154471545 8 0.022099447513812154 148 0.25874125874125875 40 0.052770448548812667 G 16.68 3.190187 0.58017 0.040248 0.028293 ENSG00000120087 ENST00000239165 T 0.34275 1.37 4.26 4.26 0.50523 . 0.286515 0.33401 N 0.004954 T 0.00012 0.0000 M 0.81239 2.535 0.32650 P 0.5194840000000001 B 0.22003 0.063 B 0.19666 0.026 T 0.12344 -1.0551 9 0.62326 D 0.03 . 14.6281 0.68638 0.0:0.0:1.0:0.0 . 49 P09629 HXB7_HUMAN V 49 ENSP00000239165:A49V ENSP00000239165:A49V A - 2 0 HOXB7 44043134 0.001000 0.12720 0.922000 0.36590 0.967000 0.64934 1.156000 0.31712 2.207000 0.71202 0.555000 0.69702 GCT NOVEL HOXB7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358097.3 4 24.679426 KEEP 0 0 0 82 2944 GG 1 1 0 - 14 60 503 0 0 32.805679 268 60 9909 438 ENST00000239165.7 0.049645 1 HOXB7 3217 __UNKNOWN__ __UNKNOWN__ 17 46688371 46688371 __UNKNOWN__ 5'UTR SNP A A G rs16942475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46688371A>G ENST00000239165.7 - 0 8 HOXB7_ENST00000567101.2_Intron NM_004502.3 NP_004493.3 P09629 HXB7_HUMAN homeobox B7 NA NA anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 8 CCAGATTTACACCAAAAAGGA 0.522 NA A||| 430 0.0858626 0.0492 0.0216 5008 , , NA 14160 0.2321 NA 0.0497 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS11532.1 17q21.32 2013-05-22 2005-12-22 3217 Homeoboxes / ANTP class : HOXL subclass 5118 protein-coding gene gene with protein product 142962 homeo box B7 HOX2, HOX2C NA 1973146, 1358459 Standard NM_004502 NA Approved uc002inv.3 P09629 OTTHUMG00000170231 ENST00000239165.7:c.-91T>C chr17.hg19:g.46688371A>G NA A8K3N8|Q15957|Q53FN3|Q96BQ6 hg19 CCDS11532.1 0.02 23.911262 TACxCCA COVERED NOVEL HOXB7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358097.3 3 29.784806 KEEP 0 0 0 99 3010 AA 1 1 0 - 29 60 1046 0 0 70.155856 480 60 16457 717 ENST00000239165.7 0.056974 1 HOXB9 3219 __UNKNOWN__ __UNKNOWN__ 17 46699563 46699563 __UNKNOWN__ 3'UTR SNP G G A rs2303485 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46699563G>A ENST00000311177.5 - 0 1659 HOXB7_ENST00000567101.2_Intron NM_024017.4 NP_076922.1 P17482 HXB9_HUMAN homeobox B9 NA NA anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) mitochondrion (GO:0005739)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565) breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1) 12 CTAGCCCACCGGCTTGGGGGC 0.512 NA G||| 396 0.0790735 0.0454 0.0245 5008 , , NA 20572 0.2163 NA 0.0457 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11534.1 17q21.32 2011-06-20 2005-12-22 ENSG00000170689 ENSG00000170689 3219 Homeoboxes / ANTP class : HOXL subclass 5120 protein-coding gene gene with protein product 142964 homeo box B9 HOX2E, HOX2 NA 1973146, 1358459 Standard NM_024017 NA Approved uc002inx.3 P17482 OTTHUMG00000159907 ENST00000311177.5:c.*699C>T chr17.hg19:g.46699563G>A NA B2RDB7|Q9H1I1 hg19 CCDS11534.1 0.02 9.658345 ACCxGCT COVERED NOVEL HOXB9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358101.2 2 9.028946 KEEP 0 0 0 30 1050 GG 0.999997 0.999997 0 - 10 60 391 0 0 26.108658 215 60 7702 315 ENST00000311177.5 0.044444 1 TTLL6 284076 __UNKNOWN__ __UNKNOWN__ 17 46847364 46847364 __UNKNOWN__ Missense_Mutation SNP C C A rs2032844 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46847364C>A ENST00000393382.3 - 14 2277 c.2136G>T c.(2134-2136)gaG>gaT p.E712D TTLL6_ENST00000433608.2_Missense_Mutation_p.E405D NM_001130918.1 NP_001124390.1 tubulin tyrosine ligase-like family, member 6 NA NA endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGCCACTGTACTCAGAGCTGG 0.517 NA C||| 1193 0.238219 0.2602 0.3905 5008 , , NA 15857 0.1736 NA 0.2445 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 C ASP/GLU,ASP/GLU 1137,3269 402.6+/-332.4 148,841,1214 68 72 70 2136,1215 -3.8 0 17 dbSNP_94 70 2144,6456 368.4+/-335.1 262,1620,2418 yes missense,missense TTLL6 NM_001130918.1,NM_173623.3 45,45 410,2461,3632 AA,AC,CC 24.9302,25.8057,25.2268 probably-damaging,probably-damaging 712/892,405/585 46847364 3281,9725 2203 4300 6503 SO:0001583 missense AK093127 CCDS11537.2, CCDS45724.1 17q21.32 2013-02-14 ENSG00000170703 ENSG00000170703 284076 Tubulin tyrosine ligase-like family 26664 protein-coding gene gene with protein product 610849 NA 15890843 Standard NM_173623 NM_173623 NA Approved FLJ35808 uc021tzm.1 Q8N841 OTTHUMG00000156978 ENST00000393382.3:c.2136G>T chr17.hg19:g.46847364C>A ENSP00000377043:p.Glu712Asp NA hg19 CCDS45724.1 0.02 4.320743 GTAxTCA COVERED 537 0.24587912087912087 129 0.2621951219512195 133 0.3674033149171271 89 0.1555944055944056 186 0.24538258575197888 C 18.07 3.541315 0.65085 0.258057 0.249302 ENSG00000170703 ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382 . . . 4.36 -3.84 0.04256 . 6.187980 0.00357 N 0.000038 T 0.00012 0.0000 L 0.59436 1.845 0.80722 P 0.0 P;D 0.76494 0.954;0.999 B;D 0.80764 0.437;0.994 T 0.23476 -1.0187 8 0.49607 T 0.09 . 5.6836 0.17790 0.1313:0.5714:0.0:0.2972 rs2032844;rs52819623;rs58091541;rs2032844 664;405 Q8N841;G5E937 TTLL6_HUMAN;. D 712;405;390;664 . ENSP00000302547:E405D E - 3 2 TTLL6 44202363 0.000000 0.05858 0.002000 0.10522 0.210000 0.24377 -1.741000 0.01837 -0.440000 0.07211 0.655000 0.94253 GAG NOVEL TTLL6-003 KNOWN downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346939.3 0 3.912207 KEEP 0 0 0 13 442 CC 0.994391 0.994391 0 - 8 60 289 0 0 19.328979 135 60 5151 180 ENST00000393382.3 0.055944 1 TTLL6 284076 __UNKNOWN__ __UNKNOWN__ 17 46894377 46894377 __UNKNOWN__ Missense_Mutation SNP A A C rs3959442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46894377A>C ENST00000393382.3 - 1 199 c.58T>G c.(58-60)Tgg>Ggg p.W20G TTLL6_ENST00000470462.2_5'UTR NM_001130918.1 NP_001124390.1 tubulin tyrosine ligase-like family, member 6 NA NA endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CTGCTAGTCCAGCTTGCAACC 0.667 NA A||| 1360 0.271565 0.3434 0.4063 5008 , , NA 12670 0.1875 NA 0.2664 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 A GLY/TRP 456,928 79,298,315 40 51 48 58 -0.6 0 17 dbSNP_108 48 862,2320 120,622,849 yes missense TTLL6 NM_001130918.1 184 199,920,1164 CC,CA,AA 27.0899,32.948,28.8655 20/892 46894377 1318,3248 692 1591 2283 SO:0001583 missense AK093127 CCDS11537.2, CCDS45724.1 17q21.32 2013-02-14 ENSG00000170703 ENSG00000170703 284076 Tubulin tyrosine ligase-like family 26664 protein-coding gene gene with protein product 610849 NA 15890843 Standard NM_173623 NM_173623 NA Approved FLJ35808 uc021tzm.1 Q8N841 OTTHUMG00000156978 ENST00000393382.3:c.58T>G chr17.hg19:g.46894377A>C ENSP00000377043:p.Trp20Gly NA hg19 CCDS45724.1 0.02 11.949352 TCCxGCT COVERED 606 0.2774725274725275 163 0.3313008130081301 145 0.4005524861878453 95 0.1660839160839161 203 0.2678100263852243 A 0.930 -0.713124 0.03206 0.32948 0.270899 ENSG00000170703 ENST00000440941;ENST00000418322 . . . 4.19 -0.634 0.11516 . . . . . T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 . . . . . . T 0.47509 -0.9112 5 0.29301 T 0.29 . 5.1484 0.14996 0.5233:0.3665:0.0:0.1101 rs3959442 . . . G 20;22 . ENSP00000403514:W22G W - 1 0 TTLL6 44249376 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.112000 0.10791 -0.138000 0.11434 -0.294000 0.09567 TGG NOVEL TTLL6-003 KNOWN downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346939.3 3 28.219571 KEEP 0 1 35 106 3305 AA 1 1 0 - 12 60 445 0 0 29.097149 249 60 8892 484 ENST00000393382.3 0.045977 1 TTLL6 284076 __UNKNOWN__ __UNKNOWN__ 17 46894379 46894379 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:46894379C>T ENST00000393382.3 - 1 197 c.56G>A c.(55-57)aGc>aAc p.S19N TTLL6_ENST00000470462.2_5'UTR NM_001130918.1 NP_001124390.1 tubulin tyrosine ligase-like family, member 6 NA NA endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GCTAGTCCAGCTTGCAACCAC 0.662 NA NA NA NA NA NA NA NA NA NA NA 0 41 52 48 NA NA 17 NA 46894379 692 1591 2283 SO:0001583 missense AK093127 CCDS11537.2, CCDS45724.1 17q21.32 2013-02-14 ENSG00000170703 ENSG00000170703 284076 Tubulin tyrosine ligase-like family 26664 protein-coding gene gene with protein product 610849 NA 15890843 Standard NM_173623 NM_173623 NA Approved FLJ35808 uc021tzm.1 Q8N841 OTTHUMG00000156978 ENST00000393382.3:c.56G>A chr17.hg19:g.46894379C>T ENSP00000377043:p.Ser19Asn NA hg19 CCDS45724.1 0.02 10.252529 CAGxTTG COVERED . . . . . . . . . . C 13.03 2.116859 0.37339 . . ENSG00000170703 ENST00000440941;ENST00000418322 . . . 4.19 1.0 0.19881 . . . . . T 0.21718 0.0523 N 0.14661 0.345 0.09310 N 1 . . . . . . T 0.23048 -1.0199 6 0.39692 T 0.17 . 6.6535 0.22975 0.0:0.6875:0.0:0.3125 . . . . N 19;21 . ENSP00000403514:S21N S - 2 0 TTLL6 44249378 0.001000 0.12720 0.000000 0.03702 0.003000 0.03518 1.116000 0.31221 0.155000 0.19261 0.557000 0.71058 AGC NOVEL TTLL6-003 KNOWN downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346939.3 3 32.780889 KEEP 0 0 0 109 3893 CC 1 1 0 - 12 60 429 0 0 27.497897 249 60 9144 490 ENST00000393382.3 0.045977 1 GIP 2695 __UNKNOWN__ __UNKNOWN__ 17 47036042 47036042 __UNKNOWN__ 3'UTR SNP C C A rs55936433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47036042C>A ENST00000357424.2 - 0 589 NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide NA NA adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774) hormone activity (GO:0005179) lung(2)|skin(1)|stomach(1) 4 AGGGCAGAATCCAGTCCTGAG 0.502 NA C||| 1161 0.231829 0.1929 0.4049 5008 , , NA 14043 0.1756 NA 0.2634 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 C 999,3407 109,781,1313 112 90 98 2.9 1 17 dbSNP_129 98 2369,6227 322,1725,2251 no utr-3 GIP NM_004123.2 431,2506,3564 AA,AC,CC 27.5593,22.6736,25.9037 47036042 3368,9634 2203 4298 6501 SO:0001624 3_prime_UTR_variant CCDS11542.1 17q21.3-q22 2013-02-26 ENSG00000159224 ENSG00000159224 2695 Endogenous ligands 4270 protein-coding gene gene with protein product glucose-dependent insulinotropic polypeptide 137240 NA 2739653 Standard NM_004123 NM_004123 NA Approved uc002iol.1 P09681 OTTHUMG00000161171 ENST00000357424.2:c.*27G>T chr17.hg19:g.47036042C>A NA Q4VB42|Q6NTD3 hg19 CCDS11542.1 0.02 10.709371 AATxCAG COVERED NOVEL GIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364044.1 4 10.534115 KEEP 0 0 0 35 1219 CC 0.999999 0.999999 0 - 21 60 732 0 0 50.943305 256 60 9393 378 ENST00000357424.2 0.075812 1 GIP 2695 __UNKNOWN__ __UNKNOWN__ 17 47038377 47038377 __UNKNOWN__ Intron SNP A A C rs187490606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47038377A>C ENST00000357424.2 - 5 451 NM_004123.2 NP_004114.1 P09681 GIP_HUMAN gastric inhibitory polypeptide NA NA adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|digestive system development (GO:0055123)|endocrine pancreas development (GO:0031018)|exploration behavior (GO:0035640)|female pregnancy (GO:0007565)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of glucagon secretion (GO:0070094)|positive regulation of glucose transport (GO:0010828)|positive regulation of insulin secretion (GO:0032024)|regulation of insulin secretion (GO:0050796)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to lipid (GO:0033993)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|response to selenium ion (GO:0010269)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|secretory granule lumen (GO:0034774) hormone activity (GO:0005179) lung(2)|skin(1)|stomach(1) 4 CTGGCTAACTATTTTAGCCTG 0.582 NA A||| 6 0.00119808 0.0 0.0 5008 , , NA 17788 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 33 29 30 NA NA 17 NA 47038377 2203 4297 6500 SO:0001627 intron_variant CCDS11542.1 17q21.3-q22 2013-02-26 ENSG00000159224 ENSG00000159224 2695 Endogenous ligands 4270 protein-coding gene gene with protein product glucose-dependent insulinotropic polypeptide 137240 NA 2739653 Standard NM_004123 NM_004123 NA Approved uc002iol.1 P09681 OTTHUMG00000161171 ENST00000357424.2:c.351-28T>G chr17.hg19:g.47038377A>C NA Q4VB42|Q6NTD3 hg19 CCDS11542.1 0.02 2.259186 ACTxTTT COVERED NOVEL GIP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364044.1 0 3.903267 KEEP 0 0 0 13 360 AA 0.994391 0.993881 0 - 9 60 336 0 0 25.524874 74 60 2684 103 ENST00000357424.2 0.108434 0.999487 B4GALNT2 124872 __UNKNOWN__ __UNKNOWN__ 17 47219542 47219542 __UNKNOWN__ Intron SNP G G A rs12453819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47219542G>A ENST00000393354.2 + 3 377 B4GALNT2_ENST00000300404.2_Intron|B4GALNT2_ENST00000504681.1_Intron NM_001159387.1 NP_001152859.1 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 NA NA lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047) integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021) acetylgalactosaminyltransferase activity (GO:0008376) endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GAGGTAATGCGGGTCATGAAG 0.498 NA A||| 1807 0.360823 0.4175 0.3242 5008 , , NA 18396 0.4494 NA 0.2734 False NA ,,, NA NA NA 2504 0.3088 NA NA NA GBM(124;244 1635 8663 18097 33175) NA 0 A ,, 1755,2651 646.1+/-398.3 351,1053,799 84 78 80 ,, -0.7 0 17 dbSNP_120 80 2426,6174 699.3+/-405.1 354,1718,2228 no intron,intron,intron B4GALNT2 NM_001159387.1,NM_001159388.1,NM_153446.2 ,, 705,2771,3027 AA,AG,GG 28.2093,39.832,32.1467 ,, ,, 47219542 4181,8825 2203 4300 6503 SO:0001627 intron_variant AJ517770 CCDS11544.1, CCDS54139.1, CCDS54140.1 17q21.33 2013-02-22 2006-01-08 2006-01-08 ENSG00000167080 ENSG00000167080 124872 2.4.1.- Beta 4-glycosyltransferases, Glycosyltransferase family 2 domain containing 24136 protein-coding gene gene with protein product 111730 UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase GALGT2 NA 8782649, 12678917 Standard NM_153446 NM_153446 NA Approved Sda, Cad uc002ion.2 Q8NHY0 OTTHUMG00000161307 ENST00000393354.2:c.353+8G>A chr17.hg19:g.47219542G>A NA B4DZE4|Q14CP1|Q86Y40 hg19 CCDS54139.1 0.02 2.154912 TGCxGGT COVERED NOVEL B4GALNT2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364478.1 0 3.611701 KEEP 0 0 0 12 424 GG 0.993634 0.993553 0 + 9 60 347 0 0 26.072455 86 60 3014 136 ENST00000393354.2 0.094737 0.999919 GNGT2 2793 __UNKNOWN__ __UNKNOWN__ 17 47284683 47284683 __UNKNOWN__ Intron SNP C C T rs2293215 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47284683C>T ENST00000511277.1 - 3 264 GNGT2_ENST00000503070.1_Intron|GNGT2_ENST00000515635.1_Intron|GNGT2_ENST00000511673.1_Intron|GNGT2_ENST00000300406.2_Intron|GNGT2_ENST00000507680.1_Intron NM_001198756.1 NP_001185685.1 O14610 GBGT2_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|phototransduction (GO:0007602)|synaptic transmission (GO:0007268) heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|signal transducer activity (GO:0004871) endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) AGAGCAGGGACGGGGCGAGGA 0.572 NA C||| 1297 0.258986 0.2179 0.3098 5008 , , NA 21663 0.4514 NA 0.173 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 C ,,, 810,3596 324.2+/-298.5 66,678,1459 287 268 274 ,,, -7.4 0 17 dbSNP_100 274 1627,6973 300.6+/-305.0 162,1303,2835 no intron,intron,intron,intron GNGT2 NM_001198754.1,NM_001198755.1,NM_001198756.1,NM_031498.2 ,,, 228,1981,4294 TT,TC,CC 18.9186,18.384,18.7375 ,,, ,,, 47284683 2437,10569 2203 4300 6503 SO:0001627 intron_variant CCDS11545.1 17q21 2003-12-17 ENSG00000167083 2793 4412 protein-coding gene gene with protein product 139391 NA 9286705 Standard NM_031498 NM_031498 NA Approved GNG9 uc021tzq.1 O14610 ENST00000511277.1:c.84+17G>A chr17.hg19:g.47284683C>T NA B2R746|D3DTW5 hg19 CCDS11545.1 0.02 8.11881 GGAxGGG COVERED NOVEL GNGT2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364482.1 1 6.621511 KEEP 0 0 0 22 764 CC 0.999879 0.999879 0 - 11 60 379 0 0 23.941314 221 60 7833 302 ENST00000511277.1 0.047414 1 ZNF652 22834 __UNKNOWN__ __UNKNOWN__ 17 47394319 47394319 __UNKNOWN__ Missense_Mutation SNP G G A rs185865954 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47394319G>A ENST00000362063.2 - 2 1087 c.769C>T c.(769-771)Cgc>Tgc p.R257C ZNF652_ENST00000430262.2_Missense_Mutation_p.R257C NM_014897.2 NP_055712.1 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 257 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) AGGTACCAGCGAGTGTTAAAT 0.493 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 20272 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 174 147 156 NA NA 17 NA 47394319 2203 4300 6503 SO:0001583 missense AB023141 CCDS32677.1 17q21.32 2013-01-08 ENSG00000198740 22834 Zinc fingers, C2H2-type 29147 protein-coding gene gene with protein product 613907 NA 10231032 Standard NM_014897 NM_014897 NA Approved KIAA0924 uc002iow.3 Q9Y2D9 ENST00000362063.2:c.769C>T chr17.hg19:g.47394319G>A ENSP00000354686:p.Arg257Cys NA A4QPD9|Q5H9Q0 hg19 CCDS32677.1 0.02 8.688699 AGCxAGT COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 0 0.0 1 0.0013192612137203166 G 18.73 3.685682 0.68157 . . ENSG00000198740 ENST00000362063;ENST00000430262 T;T 0.53640 0.61;0.61 5.59 5.59 0.84812 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3); 0.000000 0.85682 D 0.000000 T 0.66376 0.2783 L 0.53780 1.695 0.80722 D 1 D 0.89917 1.0 D 0.79784 0.993 T 0.67003 -0.5780 10 0.66056 D 0.02 -16.3757 19.1921 0.93671 0.0:0.0:1.0:0.0 . 257 Q9Y2D9 ZN652_HUMAN C 257 ENSP00000354686:R257C;ENSP00000416305:R257C ENSP00000354686:R257C R - 1 0 ZNF652 44749318 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.863000 0.87023 2.639000 0.89480 0.655000 0.94253 CGC NOVEL ZNF652-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000364524.1 0 20.142583 KEEP 0 0 0 67 2209 GG 1 1 0 - 10 60 364 0 0 23.913644 191 60 6494 336 ENST00000362063.2 0.049751 1 SPOP 8405 __UNKNOWN__ __UNKNOWN__ 17 47700315 47700315 __UNKNOWN__ Intron SNP G G A rs3815474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47700315G>A ENST00000393328.2 - 3 300 SPOP_ENST00000503676.1_Intron|SPOP_ENST00000393331.3_Intron|SPOP_ENST00000504102.1_Intron|SPOP_ENST00000347630.2_Intron|SPOP_ENST00000513080.1_Intron NM_003563.3 NP_003554.1 O43791 SPOP_HUMAN speckle-type POZ protein NA NA glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634) ubiquitin protein ligase binding (GO:0031625) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 ACCTGATAGAGGCTGGAAATT 0.378 NA Prostate(2;0.17) G||| 1083 0.216254 0.2171 0.1758 5008 , , NA 19781 0.3462 NA 0.1481 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000644 CCDS11551.1 17q21.33 2013-01-09 ENSG00000121067 ENSG00000121067 8405 BTB/POZ domain containing 11254 protein-coding gene gene with protein product 602650 NA 9414087 Standard NM_003563 NM_001007227 NA Approved TEF2, BTBD32 uc002ipg.3 O43791 OTTHUMG00000161496 ENST00000393328.2:c.66-77C>T chr17.hg19:g.47700315G>A NA B2R6S3|D3DTW7|Q53HJ1 hg19 CCDS11551.1 0.02 4.499939 AGAxGCT COVERED NOVEL SPOP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000365154.2 3 7.82459 KEEP 0 0 0 26 872 GG 0.999957 0.999957 0 - 13 60 458 0 0 33.573897 121 70 4348 172 ENST00000393328.2 0.097015 1 KAT7 11143 __UNKNOWN__ __UNKNOWN__ 17 47903381 47903381 __UNKNOWN__ Silent SNP C C T rs61749929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:47903381C>T ENST00000259021.4 + 13 1780 c.1500C>T c.(1498-1500)gtC>gtT p.V500V KAT7_ENST00000509773.1_Silent_p.V390V|KAT7_ENST00000503935.2_Silent_p.V344V|KAT7_ENST00000424009.2_Silent_p.V470V|KAT7_ENST00000454930.2_Silent_p.V361V|KAT7_ENST00000510819.1_Silent_p.V331V|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000435742.2_Silent_p.V314V NM_007067.4 NP_008998.1 O95251 KAT7_HUMAN K(lysine) acetyltransferase 7 500 MYST-type HAT. NA chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA TTTCCAAAGTCGAAGAAAAAG 0.428 NA C||| 1015 0.202676 0.0113 0.1571 5008 , , NA 19951 0.4792 NA 0.1014 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 C ,,,, 163,4243 109.5+/-147.8 1,161,2041 89 86 87 1410,1083,1170,993,1500 -1.4 1 17 dbSNP_129 87 1013,7587 217.0+/-255.8 53,907,3340 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous KAT7 NM_001199155.1,NM_001199156.1,NM_001199157.1,NM_001199158.1,NM_007067.4 ,,,, 54,1068,5381 TT,TC,CC 11.7791,3.6995,9.042 ,,,, 470/582,361/473,390/502,331/443,500/612 47903381 1176,11830 2203 4300 6503 SO:0001819 synonymous_variant AF074606 CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1 17q21.32 2013-01-10 2011-07-21 2011-07-21 ENSG00000136504 ENSG00000136504 11143 2.3.1.48 Chromatin-modifying enzymes / K-acetyltransferases, Zinc fingers, C2HC-type containing 17016 protein-coding gene gene with protein product histone acetyltransferase binding to ORC1 609880 MYST histone acetyltransferase 2 MYST2 NA 10438470, 10930412 Standard NM_007067 NM_001199155 NA Approved HBOA, HBO1, ZC2HC7 uc002ipm.3 O95251 OTTHUMG00000161770 ENST00000259021.4:c.1500C>T chr17.hg19:g.47903381C>T NA B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7 hg19 CCDS11554.1 0.02 1.642873 AGTxGAA COVERED NOVEL KAT7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366032.1 2 6.92167 KEEP 0 0 0 23 755 CC 0.999892 0.999514 0 + 5 60 177 0 0 11.829955 80 60 3006 109 ENST00000259021.4 0.058824 0.999622 DLX3 1747 __UNKNOWN__ __UNKNOWN__ 17 48067439 48067439 __UNKNOWN__ 3'UTR SNP G G A rs3803876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48067439G>A ENST00000434704.2 - 0 2531 NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 NA NA blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890) nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 TGAGAAGGCTGGGAGGGGGTG 0.488 NA G||| 3243 0.647564 0.3707 0.7939 5008 , , NA 12769 0.7034 NA 0.8449 False NA ,,, NA NA NA 2504 0.6575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11556.1 17q21.33 2011-06-20 2005-12-22 ENSG00000064195 1747 Homeoboxes / ANTP class : NKL subclass 2916 protein-coding gene gene with protein product 600525 distal-less homeo box 3 NA 7613049 Standard NM_005220 NA Approved uc002ipy.3 O60479 ENST00000434704.2:c.*1442C>T chr17.hg19:g.48067439G>A NA B3KQL6 hg19 CCDS11556.1 0.02 1.836752 GCTxGGA COVERED NOVEL DLX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366307.1 0 3.043525 KEEP 0 1 25 19 675 GG 0.999863 0.999802 0 - 7 60 246 0 0 17.024982 90 60 3426 133 ENST00000434704.2 0.072165 0.99994 DLX3 1747 __UNKNOWN__ __UNKNOWN__ 17 48067953 48067953 __UNKNOWN__ 3'UTR SNP T T C rs12452477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48067953T>C ENST00000434704.2 - 0 2017 NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 NA NA blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890) nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 TCTTGCCTGGTATGTCTCTTT 0.552 NA T||| 3272 0.653355 0.3926 0.7939 5008 , , NA 14652 0.7034 NA 0.8449 False NA ,,, NA NA NA 2504 0.6575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11556.1 17q21.33 2011-06-20 2005-12-22 ENSG00000064195 1747 Homeoboxes / ANTP class : NKL subclass 2916 protein-coding gene gene with protein product 600525 distal-less homeo box 3 NA 7613049 Standard NM_005220 NA Approved uc002ipy.3 O60479 ENST00000434704.2:c.*928A>G chr17.hg19:g.48067953T>C NA B3KQL6 hg19 CCDS11556.1 0.02 10.737379 TGGxATG COVERED NOVEL DLX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366307.1 1 12.333297 KEEP 0 0 0 41 1215 TT 1 1 0 - 12 60 417 0 0 26.388909 262 60 9118 371 ENST00000434704.2 0.043796 1 DLX3 1747 __UNKNOWN__ __UNKNOWN__ 17 48072496 48072496 __UNKNOWN__ 5'UTR SNP G G T rs10459948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48072496G>T ENST00000434704.2 - 0 92 NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 NA NA blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890) nucleus (GO:0005634) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 CGCGTCTGGGGGGAGGGGGAG 0.677 NA G||| 697 0.139177 0.0666 0.0562 5008 , , NA 12843 0.3869 NA 0.0835 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS11556.1 17q21.33 2011-06-20 2005-12-22 ENSG00000064195 1747 Homeoboxes / ANTP class : NKL subclass 2916 protein-coding gene gene with protein product 600525 distal-less homeo box 3 NA 7613049 Standard NM_005220 NA Approved uc002ipy.3 O60479 ENST00000434704.2:c.-134C>A chr17.hg19:g.48072496G>T NA B3KQL6 hg19 CCDS11556.1 0.02 1.936594 GGGxGGA COVERED NOVEL DLX3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000366307.1 0 15.952385 KEEP 0 0 0 53 1915 GG 1 0.99994 0 - 5 60 173 0 0 11.144934 92 60 3478 205 ENST00000434704.2 0.051546 0.99994 PPP1R9B 84687 __UNKNOWN__ __UNKNOWN__ 17 48218819 48218819 __UNKNOWN__ Intron SNP C C T rs140820112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48218819C>T ENST00000501501.2 - 4 1738 PPP1R9B_ENST00000316878.6_Intron|AC002401.1_ENST00000451776.1_RNA Q96SB3 NEB2_HUMAN protein phosphatase 1, regulatory subunit 9B NA NA actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380) cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202) protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 TCAGAAACTCCAGGCTCCcca 0.512 NA C||| 22 0.00439297 0.0 0.0 5008 , , NA 18218 0.0218 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ401189 CCDS74102.1 17q21.33 2013-01-31 2011-10-04 2001-07-02 ENSG00000108819 ENSG00000108819 84687 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 9298 protein-coding gene gene with protein product spinophilin, Neurabin-2 603325 protein phosphatase 1, regulatory subunit 9B, spinophilin, protein phosphatase 1, regulatory (inhibitor) subunit 9B PPP1R6, PPP1R9 NA 9275233 Standard NM_032595 NM_032595 NA Approved Spn, SPINO uc002iqh.4 Q96SB3 OTTHUMG00000162008 ENST00000501501.2:c.2421-81G>A chr17.hg19:g.48218819C>T NA Q8TCR9 hg19 0.02 4.223248 CTCxAGG COVERED NOVEL PPP1R9B-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000366722.2 0 7.824937 KEEP 0 0 0 26 895 CC 0.999957 0.999956 0 - 5 60 182 0 0 11.562852 115 60 4387 173 ENST00000501501.2 0.041667 0.999999 COL1A1 1277 __UNKNOWN__ __UNKNOWN__ 17 48269428 48269428 __UNKNOWN__ Intron SNP C C G rs117746137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48269428C>G ENST00000225964.5 - 30 2102 NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 NA NA blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601) collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048) GCAAAACCCACCTGGGGCCAC 0.582 NA T PDGFB, USP6 dermatofibrosarcoma protuberans, aneurysmal bone cyst Osteogenesis imperfecta C||| 230 0.0459265 0.0333 0.0403 5008 , , NA 17778 0.124 NA 0.001 False NA ,,, NA NA NA 2504 0.0327 NA NA NA Dom yes 17 17q21.31-q22 1277 collagen, type I, alpha 1 yes M 0 C 107,4295 1,105,2095 26 26 26 0.5 0 17 dbSNP_132 26 3,8595 0,3,4296 no intron COL1A1 NM_000088.3 1,108,6391 GG,GC,CC 0.0349,2.4307,0.8462 48269428 110,12890 2201 4299 6500 SO:0001627 intron_variant Z74615 CCDS11561.1 17q21.33 2014-09-17 ENSG00000108821 ENSG00000108821 1277 Collagens 2197 protein-coding gene gene with protein product 120150 NA 3178743, 2857713 Standard NM_000088 NA Approved OI4 uc002iqm.3 P02452 OTTHUMG00000148674 ENST00000225964.5:c.1984-43G>C chr17.hg19:g.48269428C>G NA O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7 hg19 CCDS11561.1 0.02 7.342408 CCAxCTG COVERED NOVEL COL1A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309036.2 0 15.951067 KEEP 0 0 0 53 1852 CC 1 1 0 - 17 60 645 0 0 49.044921 144 60 5206 255 ENST00000225964.5 0.10559 1 COL1A1 1277 __UNKNOWN__ __UNKNOWN__ 17 48270117 48270117 __UNKNOWN__ Intron SNP C C G rs41316671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48270117C>G ENST00000225964.5 - 27 1994 NM_000088.3 NP_000079 P02452 CO1A1_HUMAN collagen, type I, alpha 1 NA NA blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601) collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615) extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407) COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048) AGGGTGTCTCCCCTTTTCTGC 0.642 NA T PDGFB, USP6 dermatofibrosarcoma protuberans, aneurysmal bone cyst Osteogenesis imperfecta C||| 228 0.0455272 0.0325 0.0403 5008 , , NA 16936 0.123 NA 0.001 False NA ,,, NA NA NA 2504 0.0327 NA NA NA Dom yes 17 17q21.31-q22 1277 collagen, type I, alpha 1 yes M 0 C 109,4297 83.9+/-122.4 1,107,2095 48 55 53 -7.6 0 17 dbSNP_127 53 11,8589 8.4+/-32.0 0,11,4289 no intron COL1A1 NM_000088.3 1,118,6384 GG,GC,CC 0.1279,2.4739,0.9227 48270117 120,12886 2203 4300 6503 SO:0001627 intron_variant Z74615 CCDS11561.1 17q21.33 2014-09-17 ENSG00000108821 ENSG00000108821 1277 Collagens 2197 protein-coding gene gene with protein product 120150 NA 3178743, 2857713 Standard NM_000088 NA Approved OI4 uc002iqm.3 P02452 OTTHUMG00000148674 ENST00000225964.5:c.1875+40G>C chr17.hg19:g.48270117C>G NA O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7 hg19 CCDS11561.1 0.02 9.623374 CTCxCCT COVERED NOVEL COL1A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000309036.2 2 37.621018 KEEP 0 0 0 125 4332 CC 1 1 0 - 10 60 300 0 0 16.769142 255 60 9295 488 ENST00000225964.5 0.037736 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 48418919 48418919 __UNKNOWN__ IGR SNP C C A rs112840447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48418919C>A NA NA RP11-893F2.9 (53703 upstream) : XYLT2 (4533 downstream) NA NA NA gttgcccaggctagtctcaaa 0.488 NA C||| 776 0.154952 0.1785 0.2507 5008 , , NA 14781 0.0327 NA 0.2038 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.48418919C>A NA hg19 0.02 -0.070187 AGGxTAG UNCOVERED NOVEL 0 2 2.70888 KEEP 1 0 0 9 322 CC 0.99257 0.053735 0 3 60 108 0 0 9.932782 5 60 194 20 0.375 0.054137 XYLT2 64132 __UNKNOWN__ __UNKNOWN__ 17 48438055 48438055 __UNKNOWN__ 3'UTR SNP G G T rs2526537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48438055G>T ENST00000017003.2 + 0 3050 XYLT2_ENST00000507602.1_Intron NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II NA NA chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) TGGGGAGCAGGGGCTTGCTGA 0.577 NA G||| 2790 0.557109 0.2821 0.4179 5008 , , NA 14160 0.8889 NA 0.5537 False NA ,,, NA NA NA 2504 0.6892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ277442 CCDS11563.1 17q21.33 2013-02-25 ENSG00000015532 ENSG00000015532 64132 2.4.2.26 15517 protein-coding gene gene with protein product protein xylosyltransferase 2 608125 NA 11099377 Standard NM_022167 NM_022167 NA Approved XT-II, PXYLT2 uc002iqo.3 Q9H1B5 OTTHUMG00000162057 ENST00000017003.2:c.*403G>T chr17.hg19:g.48438055G>T NA Q6UY41|Q86V00 hg19 CCDS11563.1 0.02 4.208718 CAGxGGC COVERED NOVEL XYLT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367046.1 2 9.765162 KEEP 0 1 27 42 1456 GG 1 1 0 + 7 60 248 0 0 16.236436 126 60 4651 219 ENST00000017003.2 0.052632 1 RSAD1 55316 __UNKNOWN__ __UNKNOWN__ 17 48563172 48563172 __UNKNOWN__ 3'UTR SNP C C T rs3744531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48563172C>T ENST00000258955.2 + 0 2364 NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 NA NA porphyrin-containing compound biosynthetic process (GO:0006779) mitochondrion (GO:0005739) 4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) ACTTCCTTCCCCCTGTGCCTT 0.498 NA C||| 682 0.136182 0.2655 0.1484 5008 , , NA 20207 0.0774 NA 0.0716 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002026 CCDS11569.1 17q21.33 2004-11-08 ENSG00000136444 ENSG00000136444 55316 25634 protein-coding gene gene with protein product NA 12477932 Standard NM_018346 NM_018346 NA Approved FLJ11164 uc002iqw.1 Q9HA92 OTTHUMG00000162126 ENST00000258955.2:c.*950C>T chr17.hg19:g.48563172C>T NA B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7 hg19 CCDS11569.1 0.02 12.100555 TCCxCCT COVERED NOVEL RSAD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367413.1 4 16.82826 KEEP 0 0 0 56 1932 CC 1 1 0 + 18 60 682 0 0 48.56948 236 60 8659 372 ENST00000258955.2 0.070866 1 EPN3 55040 __UNKNOWN__ __UNKNOWN__ 17 48617493 48617493 __UNKNOWN__ Intron SNP A A G rs62059698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48617493A>G ENST00000268933.3 + 6 1470 EPN3_ENST00000541226.1_Intron|EPN3_ENST00000537145.1_Intron NM_017957.2 NP_060427.2 Q9H201 EPN3_HUMAN epsin 3 NA NA clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) lipid binding (GO:0008289) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) gatcatgaataGGTATCTGTG 0.507 NA A||| 1752 0.34984 0.0772 0.2954 5008 , , NA 23499 0.8363 NA 0.1779 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF324241 CCDS11570.1 17q21.33 2008-07-18 ENSG00000049283 55040 18235 protein-coding gene gene with protein product 607264 NA 10951261, 11359770 Standard NM_017957 NM_017957 NA Approved FLJ20778, MGC129899 uc002ira.4 Q9H201 ENST00000268933.3:c.892-115A>G chr17.hg19:g.48617493A>G NA A8K6J3|A8KAB2|Q9BVN6|Q9NWK2 hg19 CCDS11570.1 0.02 1.93489 AATxGGT COVERED NOVEL EPN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000367573.1 0 6.017107 KEEP 0 0 0 20 628 AA 0.999863 0.99954 0 + 4 60 145 0 0 9.389838 82 60 2835 123 ENST00000268933.3 0.046512 0.999678 SPATA20 64847 __UNKNOWN__ __UNKNOWN__ 17 48625543 48625543 __UNKNOWN__ Intron SNP G G A rs12943759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48625543G>A ENST00000006658.6 + 3 245 SPATA20_ENST00000356488.4_Intron|SPATA20_ENST00000393244.3_Intron|SPATA20_ENST00000511937.1_Intron NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) extracellular region (GO:0005576) catalytic activity (GO:0003824) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CTGGGAGCAGGGGTCCTACTG 0.622 NA G||| 2152 0.429712 0.121 0.3991 5008 , , NA 16219 0.8562 NA 0.3588 False NA ,,, NA NA NA 2504 0.502 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11571.1, CCDS58563.1, CCDS58564.1 17q21.33 2011-03-17 ENSG00000006282 ENSG00000006282 64847 26125 protein-coding gene gene with protein product hypothetical protein FLJ21347 613939 NA 12477932 Standard NM_022827 NM_022827 NA Approved FLJ21347, SSP411, Tisp78 uc002ird.3 Q8TB22 OTTHUMG00000162162 ENST00000006658.6:c.126-101G>A chr17.hg19:g.48625543G>A NA Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747 hg19 CCDS11571.1 0.02 6.953796 CAGxGGT COVERED NOVEL SPATA20-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000367648.2 1 7.993184 KEEP 0 2 49 44 1556 GG 1 1 0 + 14 60 502 0 0 35.810139 158 60 5682 255 ENST00000006658.6 0.081395 1 CACNA1G 8913 __UNKNOWN__ __UNKNOWN__ 17 48647011 48647011 __UNKNOWN__ Intron SNP T T G rs12946808 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48647011T>G ENST00000515411.1 + 4 488 CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000416767.4_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000502264.1_Intron NM_001256324.1 NP_001243253.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit NA NA axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TTGACCTCTTTTGACCCCACT 0.572 NA T||| 2763 0.551717 0.1959 0.5548 5008 , , NA 17881 0.9127 NA 0.4881 False NA ,,, NA NA NA 2504 0.7239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AC004590 CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1 17q22 2012-03-07 2007-02-16 ENSG00000006283 ENSG00000006283 8913 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1394 protein-coding gene gene with protein product 604065 NA 9495342, 16382099 Standard NM_018896 NM_001256334 NA Approved Cav3.1, NBR13 uc002irk.2 O43497 OTTHUMG00000162180 ENST00000515411.1:c.489-56T>G chr17.hg19:g.48647011T>G NA D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3 hg19 CCDS58568.1 0.02 9.033276 CTTxTGA COVERED NOVEL CACNA1G-034 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000367938.1 2 7.126171 KEEP 0 3 110 62 1901 TT 1 1 0 + 12 60 454 1 0 30.691526 217 60 7903 379 ENST00000515411.1 0.052402 1 CACNA1G 8913 __UNKNOWN__ __UNKNOWN__ 17 48653354 48653354 __UNKNOWN__ Silent SNP C C A rs12449998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48653354C>A ENST00000515411.1 + 8 1591 c.1591C>A c.(1591-1593)Cgg>Agg p.R531R CACNA1G_ENST00000515765.1_Silent_p.R531R|CACNA1G_ENST00000515165.1_Silent_p.R531R|CACNA1G_ENST00000513964.1_Silent_p.R531R|CACNA1G_ENST00000503485.1_Silent_p.R531R|CACNA1G_ENST00000510366.1_Silent_p.R531R|CACNA1G_ENST00000354983.4_Silent_p.R531R|CACNA1G_ENST00000429973.2_Silent_p.R531R|CACNA1G_ENST00000514181.1_Silent_p.R531R|CACNA1G_ENST00000514079.1_Silent_p.R531R|CACNA1G_ENST00000360761.4_Silent_p.R531R|CACNA1G_ENST00000442258.2_Silent_p.R531R|CACNA1G_ENST00000507609.1_Silent_p.R531R|CACNA1G_ENST00000505165.1_Silent_p.R531R|CACNA1G_ENST00000513689.2_Silent_p.R531R|CACNA1G_ENST00000352832.5_Silent_p.R531R|CACNA1G_ENST00000507336.1_Silent_p.R531R|CACNA1G_ENST00000358244.5_Silent_p.R531R|CACNA1G_ENST00000510115.1_Silent_p.R531R|CACNA1G_ENST00000512389.1_Silent_p.R531R|CACNA1G_ENST00000507896.1_Silent_p.R531R|CACNA1G_ENST00000416767.4_Silent_p.R531R|CACNA1G_ENST00000359106.5_Silent_p.R531R|CACNA1G_ENST00000514717.1_Silent_p.R531R|CACNA1G_ENST00000507510.2_Silent_p.R531R|CACNA1G_ENST00000502264.1_Silent_p.R531R NM_001256324.1 NP_001243253.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 531 NA axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGGGTCCCGCCGGCTCATGCT 0.682 NA C||| 2624 0.523962 0.143 0.5562 5008 , , NA 14607 0.9177 NA 0.4642 False NA ,,, NA NA NA 2504 0.6718 NA NA NA NA 0 C ,,,,,,,,,,,,,, 769,3071 99,571,1250 10 18 15 1591,1591,1591,1591,1591,1591,1591,1591,1591,1591,1591,1591,1591,1591,1591 3.4 1 17 dbSNP_120 15 3739,4467 927,1885,1291 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CACNA1G NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1,NM_198397.1 ,,,,,,,,,,,,,, 1026,2456,2541 AA,AC,CC 45.5642,20.026,37.4232 ,,,,,,,,,,,,,, 531/2378,531/2172,531/2355,531/2274,531/2299,531/2322,531/2262,531/2307,531/2285,531/2333,531/2267,531/2251,531/2244,531/2344,531/1556 48653354 4508,7538 1920 4103 6023 SO:0001819 synonymous_variant AC004590 CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1 17q22 2012-03-07 2007-02-16 ENSG00000006283 ENSG00000006283 8913 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1394 protein-coding gene gene with protein product 604065 NA 9495342, 16382099 Standard NM_018896 NM_001256334 NA Approved Cav3.1, NBR13 uc002irk.2 O43497 OTTHUMG00000162180 ENST00000515411.1:c.1591C>A chr17.hg19:g.48653354C>A NA D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3 hg19 CCDS58568.1 0.02 13.314068 CGCxGGC COVERED NOVEL CACNA1G-034 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000367938.1 2 22.111616 KEEP 0 4 130 119 4151 CC 1 1 0 + 17 60 615 0 0 40.502115 315 60 11106 607 ENST00000515411.1 0.051205 1 CACNA1G 8913 __UNKNOWN__ __UNKNOWN__ 17 48703752 48703752 __UNKNOWN__ Silent SNP T T C rs739925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48703752T>C ENST00000515411.1 + 36 6585 c.6585T>C c.(6583-6585)ccT>ccC p.P2195P CACNA1G_ENST00000515765.1_Silent_p.P2202P|CACNA1G_ENST00000515165.1_Silent_p.P2165P|CACNA1G_ENST00000513964.1_Silent_p.P2120P|CACNA1G_ENST00000503485.1_Silent_p.P2131P|CACNA1G_ENST00000510366.1_Silent_p.P2113P|CACNA1G_ENST00000354983.4_Silent_p.P2224P|CACNA1G_ENST00000429973.2_Silent_p.P2147P|CACNA1G_ENST00000514181.1_Silent_p.P2140P|CACNA1G_ENST00000514079.1_Silent_p.P2172P|CACNA1G_ENST00000360761.4_Silent_p.P2142P|CACNA1G_ENST00000442258.2_Silent_p.P2124P|CACNA1G_ENST00000507609.1_Silent_p.P2158P|CACNA1G_ENST00000505165.1_Silent_p.P2086P|CACNA1G_ENST00000513689.2_Silent_p.P2168P|CACNA1G_ENST00000352832.5_Silent_p.P2131P|CACNA1G_ENST00000507336.1_Silent_p.P2247P|CACNA1G_ENST00000358244.5_Silent_p.P2052P|CACNA1G_ENST00000510115.1_Silent_p.P2179P|CACNA1G_ENST00000512389.1_Silent_p.P2154P|CACNA1G_ENST00000507896.1_Silent_p.P2075P|CACNA1G_ENST00000359106.5_Silent_p.P2258P|CACNA1G_ENST00000514717.1_Silent_p.P2108P|CACNA1G_ENST00000507510.2_Silent_p.P2213P|CACNA1G_ENST00000502264.1_Silent_p.P2187P NM_001256324.1 NP_001243253.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2258 NA axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810) plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCGCCGGCCTACGTCCTGGC 0.677 NA OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1839 0.367212 0.5393 0.2651 5008 , , NA 14167 0.1786 NA 0.4433 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 C ,,,,,,,,,,,,, 2057,2001 538,981,510 16 21 19 6774,6156,6705,6462,6537,6606,6426,6561,6495,6639,6441,6393,6372,6672 -10.9 0 17 dbSNP_86 19 3608,4724 780,2048,1338 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CACNA1G NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1 ,,,,,,,,,,,,, 1318,3029,1848 CC,CT,TT 43.3029,49.31,45.7224 ,,,,,,,,,,,,, 2258/2378,2052/2172,2235/2355,2154/2274,2179/2299,2202/2322,2142/2262,2187/2307,2165/2285,2213/2333,2147/2267,2131/2251,2124/2244,2224/2344 48703752 5665,6725 2029 4166 6195 SO:0001819 synonymous_variant AC004590 CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1 17q22 2012-03-07 2007-02-16 ENSG00000006283 ENSG00000006283 8913 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1394 protein-coding gene gene with protein product 604065 NA 9495342, 16382099 Standard NM_018896 NM_001256334 NA Approved Cav3.1, NBR13 uc002irk.2 O43497 OTTHUMG00000162180 ENST00000515411.1:c.6585T>C chr17.hg19:g.48703752T>C 956 D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3 hg19 CCDS58568.1 0.02 13.782301 GCCxACG COVERED NOVEL CACNA1G-034 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000367938.1 0 24.063304 KEEP 0 0 0 80 2410 TT 1 1 0 + 20 60 734 0 0 49.741263 327 60 11596 500 ENST00000515411.1 0.057637 1 LINC00483 55018 __UNKNOWN__ __UNKNOWN__ 17 48844381 48844381 __UNKNOWN__ RNA SNP T T C rs16949266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48844381T>C ENST00000502517.1 - 0 95 Q53H64 CQ073_HUMAN long intergenic non-protein coding RNA 483 NA NA NA GTCTGCAAGGTAACAACAGTG 0.473 NA C||| 315 0.0628994 0.028 0.0692 5008 , , NA 23081 0.2073 NA 0.0109 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK000701 17q21.33 2013-12-05 2013-12-05 2013-12-05 ENSG00000167117 ENSG00000167117 55018 Long non-coding RNAs 26080 non-coding RNA RNA, long non-coding chromosome 17 open reading frame 73 C17orf73 NA Standard NR_073199 NA Approved FLJ20694 uc031rdf.1 Q53H64 OTTHUMG00000132429 ENST00000502517.1: chr17.hg19:g.48844381T>C NA Q9NWQ1 hg19 0.02 11.370026 AGGxAAC COVERED NOVEL LINC00483-004 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000368129.1 2 21.961856 KEEP 0 0 0 73 2222 TT 1 1 0 - 15 60 558 1 0 37.80511 255 60 9058 431 ENST00000502517.1 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 48874895 48874895 __UNKNOWN__ IGR SNP A A G rs9807047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:48874895A>G NA NA LINC00483 (29977 upstream) : WFIKKN2 (37115 downstream) NA NA NA CAAAAATCCAAGGAACTCCTT 0.453 NA G||| 1439 0.28734 0.4811 0.2622 5008 , , NA 18955 0.2927 NA 0.172 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.48874895A>G NA hg19 0.02 2.250393 CCAxGGA COVERED NOVEL 0 0 8.424816 KEEP 0 0 0 28 896 AA 0.999997 0.999556 0 6 60 236 0 0 17.076832 78 60 2914 142 0.071429 0.999559 MBTD1 54799 __UNKNOWN__ __UNKNOWN__ 17 49281133 49281133 __UNKNOWN__ Intron SNP G G A rs17574235 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:49281133G>A ENST00000586178.1 - 8 1083 MBTD1_ENST00000376381.2_Intron|MBTD1_ENST00000415868.1_Intron NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 NA NA chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) ATTACGGTAAGGGTAAATAAA 0.393 NA -||| 2131 0.425519 0.0567 0.4553 5008 , , NA 17486 0.6091 NA 0.505 False NA ,,, NA NA NA 2504 0.6319 NA NA NA NA 0 566,3840 37,492,1674 70 71 71 -1.1 0 17 dbSNP_123 71 4233,4367 1076,2081,1143 no intron MBTD1 NM_017643.2 1113,2573,2817 AA,AG,GG 49.2209,12.8461,36.8984 49281133 4799,8207 2203 4300 6503 SO:0001627 intron_variant AK000062 CCDS11581.2 17q24.1 2003-01-15 ENSG00000011258 ENSG00000011258 54799 19866 protein-coding gene gene with protein product NA Standard NM_017643 NA Approved SA49P01, FLJ20055 uc002itr.4 Q05BQ5 OTTHUMG00000150442 ENST00000586178.1:c.739+18C>T chr17.hg19:g.49281133G>A NA Q6ZVU7|Q9NXU1 hg19 CCDS11581.2 0.02 12.817195 TAAxGGT COVERED NOVEL MBTD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318124.1 1 4.988536 KEEP 0 2 70 41 1478 GG 1 1 0 - 19 60 660 0 0 44.122254 290 60 11100 392 ENST00000586178.1 0.061489 1 MBTD1 54799 __UNKNOWN__ __UNKNOWN__ 17 49302721 49302721 __UNKNOWN__ Intron SNP A A T rs8076651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:49302721A>T ENST00000586178.1 - 3 296 MBTD1_ENST00000593259.1_Intron|MBTD1_ENST00000376381.2_Intron NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 NA NA chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) ttctttttttaaaaaatgctt 0.418 NA -||| 3308 0.660543 0.7579 0.5519 5008 , , NA 18538 0.6548 NA 0.5636 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000062 CCDS11581.2 17q24.1 2003-01-15 ENSG00000011258 ENSG00000011258 54799 19866 protein-coding gene gene with protein product NA Standard NM_017643 NA Approved SA49P01, FLJ20055 uc002itr.4 Q05BQ5 OTTHUMG00000150442 ENST00000586178.1:c.48-151T>A chr17.hg19:g.49302721A>T NA Q6ZVU7|Q9NXU1 hg19 CCDS11581.2 0.02 5.836245 TTTxAAA COVERED NOVEL MBTD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318124.1 1 4.945828 KEEP 0 1 30 27 768 AA 0.999997 0.999997 0 - 12 70 426 0 0 28.754422 183 60 6418 226 ENST00000586178.1 0.061538 1 CA10 56934 __UNKNOWN__ __UNKNOWN__ 17 49726596 49726596 __UNKNOWN__ Missense_Mutation SNP G G C rs78297325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:49726596G>C ENST00000285273.4 - 7 1692 c.581C>G c.(580-582)cCa>cGa p.P194R CA10_ENST00000451037.2_Missense_Mutation_p.P194R|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.P200R|CA10_ENST00000442502.2_Missense_Mutation_p.P194R|CA10_ENST00000570565.1_Missense_Mutation_p.P119R NM_001082533.1 NP_001076002.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 194 NA brain development (GO:0007420) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) Zonisamide(DB00909) ATTAAGAAATGGGTTTGATGA 0.353 NA G||| 21 0.00419329 0.0 0.0 5008 , , NA 22140 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 112 117 116 NA NA 17 NA 49726596 2203 4300 6503 SO:0001583 missense AF288385 CCDS32684.1 17q21 2012-08-21 ENSG00000154975 ENSG00000154975 56934 Carbonic anhydrases 1369 protein-coding gene gene with protein product 604642 NA 8673298, 9921901 Standard NM_020178 NM_020178 NA Approved CARPX, CA-RPX, HUCEP-15 uc002itx.4 Q9NS85 OTTHUMG00000177544 ENST00000285273.4:c.581C>G chr17.hg19:g.49726596G>C ENSP00000285273:p.Pro194Arg NA B2R7J0|B4DGL6 hg19 CCDS32684.1 0.02 15.856228 AATxGGT COVERED 4 0.0018315018315018315 0 0.0 0 0.0 4 0.006993006993006993 0 0.0 G 14.75 2.627777 0.46944 . . ENSG00000154975 ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813 T;T;T;T 0.73152 -0.72;-0.72;-0.72;-0.72 5.37 5.37 0.77165 Carbonic anhydrase, alpha-class, catalytic domain (4); 0.114239 0.64402 D 0.000007 T 0.65780 0.2724 M 0.66506 2.035 0.43977 D 0.996669 B;B;B 0.29590 0.25;0.25;0.142 B;B;B 0.38655 0.157;0.157;0.278 T 0.71331 -0.4625 10 0.59425 D 0.04 . 11.5487 0.50708 0.0815:0.0:0.9185:0.0 . 194;200;119 Q9NS85;Q68D28;B4DGL6 CAH10_HUMAN;.;. R 194;194;194;200 ENSP00000390666:P194R;ENSP00000285273:P194R;ENSP00000405388:P194R;ENSP00000340363:P200R ENSP00000285273:P194R P - 2 0 CA10 47081595 1.000000 0.71417 1.000000 0.80357 0.953000 0.61014 6.069000 0.71209 2.494000 0.84150 0.591000 0.81541 CCA NOVEL CA10-003 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000437480.1 3 17.155555 KEEP 0 0 0 57 2015 GG 1 1 0 - 13 60 441 0 0 25.381453 392 60 14733 555 ENST00000285273.4 0.032099 1 KIF2B 84643 __UNKNOWN__ __UNKNOWN__ 17 51900433 51900433 __UNKNOWN__ Silent SNP C C G rs7216557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:51900433C>G ENST00000268919.4 + 1 195 c.39C>G c.(37-39)ctC>ctG p.L13L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 13 NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983) cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCCCATGTCTCTCGCCCCTGA 0.602 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 16086 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 68 61 64 NA NA 17 NA 51900433 2203 4300 6503 SO:0001819 synonymous_variant AF333335 CCDS32685.1 17q22 2014-08-12 ENSG00000141200 ENSG00000141200 84643 Kinesins 29443 protein-coding gene gene with protein product 615142 NA 11416179 Standard NM_032559 NM_032559 NA Approved uc002iua.2 Q8N4N8 OTTHUMG00000177756 ENST00000268919.4:c.39C>G chr17.hg19:g.51900433C>G NA Q96MA2|Q9BXG6 hg19 CCDS32685.1 0.02 21.597081 TCTxTCG COVERED NOVEL KIF2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438854.1 4 14.145943 KEEP 0 0 0 47 1677 CC 1 1 0 + 18 60 697 0 0 45.389337 437 60 16253 620 ENST00000268919.4 0.03956 1 COX11 1353 __UNKNOWN__ __UNKNOWN__ 17 53038745 53038745 __UNKNOWN__ 3'UTR SNP A A G rs17817901 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:53038745A>G ENST00000299335.3 - 0 2318 TOM1L1_ENST00000536554.1_3'UTR|TOM1L1_ENST00000540336.1_3'UTR|TOM1L1_ENST00000348161.4_3'UTR|TOM1L1_ENST00000445275.2_3'UTR|TOM1L1_ENST00000575882.1_3'UTR NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) NA NA hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055) endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 ATTAAATAGAATAACAGTTCC 0.378 NA A||| 759 0.151558 0.0605 0.1585 5008 , , NA 19995 0.129 NA 0.2714 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 48 40 42 NA NA 17 NA 53038745 692 1591 2283 SO:0001624 3_prime_UTR_variant AF044321 CCDS11583.1, CCDS58579.1 17q22 2012-10-15 2012-10-15 ENSG00000166260 1353 Mitochondrial respiratory chain complex assembly factors 2261 protein-coding gene gene with protein product cytochrome c oxidase subunit 11, cytochrome c oxidase assembly protein COX11 603648 COX11 (yeast) homolog, cytochrome c oxidase assembly protein, COX11 cytochrome c oxidase assembly homolog (yeast) NA 9878253 Standard NM_004375 NM_004375 NA Approved COX11P uc010wng.1 Q9Y6N1 ENST00000299335.3:c.*1349T>C chr17.hg19:g.53038745A>G NA D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8 hg19 CCDS11583.1 0.02 4.186713 AGAxTAA COVERED NOVEL COX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439182.1 0 7.521473 KEEP 0 0 0 25 751 AA 0.999931 0.999931 0 - 5 60 184 0 0 11.315891 142 60 5149 197 ENST00000299335.3 0.034014 1 COX11 1353 __UNKNOWN__ __UNKNOWN__ 17 53046072 53046072 __UNKNOWN__ 5'UTR SNP C C G rs17209882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:53046072C>G ENST00000299335.3 - 0 74 NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) NA NA hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055) endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 GAGGCGTGCTCCGTCTCGCGA 0.637 NA C||| 925 0.184704 0.1036 0.389 5008 , , NA 16067 0.3393 NA 0.1034 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF044321 CCDS11583.1, CCDS58579.1 17q22 2012-10-15 2012-10-15 ENSG00000166260 1353 Mitochondrial respiratory chain complex assembly factors 2261 protein-coding gene gene with protein product cytochrome c oxidase subunit 11, cytochrome c oxidase assembly protein COX11 603648 COX11 (yeast) homolog, cytochrome c oxidase assembly protein, COX11 cytochrome c oxidase assembly homolog (yeast) NA 9878253 Standard NM_004375 NM_004375 NA Approved COX11P uc010wng.1 Q9Y6N1 ENST00000299335.3:c.-65G>C chr17.hg19:g.53046072C>G NA D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8 hg19 CCDS11583.1 0.02 15.229191 GCTxCGT COVERED NOVEL COX11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439182.1 1 32.194721 KEEP 0 0 0 107 3787 CC 1 1 0 - 17 60 623 1 0 42.051617 300 60 11007 546 ENST00000299335.3 0.053628 1 MMD 23531 __UNKNOWN__ __UNKNOWN__ 17 53491455 53491455 __UNKNOWN__ Intron SNP C C A rs11659004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:53491455C>A ENST00000262065.3 - 2 405 NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated NA NA cytolysis (GO:0019835) endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020) receptor activity (GO:0004872) breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 ATAACTACCCCTTCCTCCCAC 0.463 NA c||| 1073 0.214257 0.062 0.196 5008 , , NA 19190 0.4494 NA 0.1412 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 T 70,1314 2,66,624 98 83 88 -2.1 0 17 dbSNP_120 88 471,2711 37,397,1157 no intron MMD NM_012329.2 39,463,1781 AA,AC,CC 14.802,5.0578,11.8484 53491455 541,4025 692 1591 2283 SO:0001627 intron_variant X85750 CCDS11586.1 17q 2008-05-02 ENSG00000108960 23531 7153 protein-coding gene gene with protein product 604467 NA 7503749, 16044242 Standard NM_012329 NA Approved MMA, PAQR11 uc002iui.3 Q15546 ENST00000262065.3:c.108+56G>T chr17.hg19:g.53491455C>A NA B2R6X9|D3DTY6|Q8TAN7 hg19 CCDS11586.1 0.02 6.642189 CCCxTTC COVERED NOVEL MMD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439214.1 1 10.231731 KEEP 0 0 0 34 1164 CC 0.999998 0.999998 0 - 8 60 293 0 0 19.283632 154 60 5667 228 ENST00000262065.3 0.049383 1 DGKE 8526 __UNKNOWN__ __UNKNOWN__ 17 54926511 54926511 __UNKNOWN__ Intron SNP C C T rs2271899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:54926511C>T ENST00000284061.3 + 7 1226 NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa NA NA blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TATTGTAAAACGTGCTGTTTT 0.323 NA C||| 74 0.0147764 0.0 0.0259 5008 , , NA 20495 0.0476 NA 0.006 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C 2,4404 4.2+/-10.8 0,2,2201 141 134 136 -0.9 0 17 dbSNP_100 136 9,8591 7.1+/-27.0 0,9,4291 no intron DGKE NM_003647.2 0,11,6492 TT,TC,CC 0.1047,0.0454,0.0846 54926511 11,12995 2203 4300 6503 SO:0001627 intron_variant U49379 CCDS11590.1 17q22 2008-07-18 2002-08-29 ENSG00000153933 8526 2.7.1.107 2852 protein-coding gene gene with protein product 601440 diacylglycerol kinase, epsilon (64kD) NA 8626589, 10051413 Standard NM_003647 NM_003647 NA Approved DAGK6, DGK uc002iur.3 P52429 ENST00000284061.3:c.1047-31C>T chr17.hg19:g.54926511C>T NA Q8TBM4|Q9UKQ3 hg19 CCDS11590.1 0.02 2.021021 AAAxGTG COVERED NOVEL DGKE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440601.1 0 3.009559 KEEP 0 0 0 10 337 CC 0.992708 0.991413 0 + 5 60 184 0 0 12.780041 71 60 2591 94 ENST00000284061.3 0.065789 0.998696 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 54961912 54961912 __UNKNOWN__ IGR SNP A A G rs58456651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:54961912A>G NA NA RNU6-1158P (13275 upstream) : TRIM25 (3357 downstream) NA NA NA CAGTATGGGGAAAGGCACAAG 0.567 NA G||| 527 0.105232 0.239 0.0706 5008 , , NA 20425 0.0179 NA 0.0646 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.54961912A>G NA hg19 0.02 4.161133 GGGxAAG COVERED NOVEL 0 0 4.81416 KEEP 0 0 0 16 502 AA 0.997832 0.997832 0 5 60 185 0 0 11.372796 145 60 5192 212 0.033333 1 SCPEP1 59342 __UNKNOWN__ __UNKNOWN__ 17 55074469 55074469 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:55074469G>A ENST00000262288.3 + 9 935 NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 NA NA negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) serine-type carboxypeptidase activity (GO:0004185) endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) CATGCAAAAAGAAACCTGTTT 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 44 34 37 NA NA 17 NA 55074469 692 1591 2283 SO:0001627 intron_variant AF282618 CCDS11593.1 17q22 2012-09-20 ENSG00000121064 ENSG00000121064 59342 29507 protein-coding gene gene with protein product retinoid inducible serine carboxypeptidase NA 11447226, 12975309 Standard NM_021626 NM_021626 NA Approved RISC uc002iuv.4 Q9HB40 OTTHUMG00000178129 ENST00000262288.3:c.880+53G>A chr17.hg19:g.55074469G>A NA Q96A94|Q9H3F0 hg19 CCDS11593.1 0.02 2.264228 AAAxAAA COVERED NOVEL SCPEP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440622.1 0 3.328448 KEEP 0 4 42 27 876 GG 0.999997 0.999997 0 + 11 60 194 0 0 8.969046 118 60 3911 185 ENST00000262288.3 0.085271 1 AKAP1 8165 __UNKNOWN__ __UNKNOWN__ 17 55183203 55183203 __UNKNOWN__ Silent SNP T T C rs2230772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:55183203T>C ENST00000337714.3 + 2 611 c.378T>C c.(376-378)gaT>gaC p.D126D AKAP1_ENST00000539273.1_Silent_p.D126D|AKAP1_ENST00000572557.1_Silent_p.D126D|AKAP1_ENST00000571629.1_Silent_p.D126D|AKAP1_ENST00000314126.3_Silent_p.D126D NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 126 NA blood coagulation (GO:0007596) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CACGCAGAGATGACAGTACAA 0.527 NA t||| 2395 0.478235 0.3548 0.4798 5008 , , NA 21186 0.8046 NA 0.4026 False NA ,,, NA NA NA 2504 0.3855 NA NA NA NA 0 T ,, 1526,2880 482.1+/-359.3 260,1006,937 121 107 111 378,378,378 -11.6 0 17 dbSNP_98 111 3564,5036 516.3+/-378.8 736,2092,1472 no coding-synonymous,coding-synonymous,coding-synonymous AKAP1 NM_001242902.1,NM_001242903.1,NM_003488.3 ,, 996,3098,2409 CC,CT,TT 41.4419,34.6346,39.1358 ,, 126/904,126/904,126/904 55183203 5090,7916 2203 4300 6503 SO:0001819 synonymous_variant X97335 CCDS11594.1 17q22 2013-01-23 ENSG00000121057 ENSG00000121057 8165 A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Tudor domain containing 367 protein-coding gene gene with protein product protein kinase anchoring protein 1, dual specificity A-kinase-anchoring protein 1, protein phosphatase 1, regulatory subunit 43, tudor domain containing 17 602449 PRKA1 NA 8769136, 7499250 Standard NM_003488 NA Approved AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17 uc002iux.3 Q92667 OTTHUMG00000140369 ENST00000337714.3:c.378T>C chr17.hg19:g.55183203T>C NA A8K8Q1|D3DTZ0|Q13320|Q9BW14 hg19 CCDS11594.1 0.02 13.123471 AGAxGAC COVERED NOVEL AKAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277069.1 4 29.700892 KEEP 0 1 26 108 3317 TT 1 1 0 + 15 60 501 0 0 29.525651 384 60 13995 618 ENST00000337714.3 0.037594 1 AKAP1 8165 __UNKNOWN__ __UNKNOWN__ 17 55184503 55184503 __UNKNOWN__ Missense_Mutation SNP G G A rs201781643 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:55184503G>A ENST00000337714.3 + 2 1911 c.1678G>A c.(1678-1680)Gga>Aga p.G560R AKAP1_ENST00000539273.1_Missense_Mutation_p.G560R|AKAP1_ENST00000572557.1_Missense_Mutation_p.G560R|AKAP1_ENST00000571629.1_Missense_Mutation_p.G560R|AKAP1_ENST00000314126.3_Missense_Mutation_p.G560R NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 560 NA blood coagulation (GO:0007596) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GGCTGAGGATGGATGGACCAT 0.582 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 19778 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 99 109 106 NA NA 17 NA 55184503 2203 4300 6503 SO:0001583 missense X97335 CCDS11594.1 17q22 2013-01-23 ENSG00000121057 ENSG00000121057 8165 A-kinase anchor proteins, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Tudor domain containing 367 protein-coding gene gene with protein product protein kinase anchoring protein 1, dual specificity A-kinase-anchoring protein 1, protein phosphatase 1, regulatory subunit 43, tudor domain containing 17 602449 PRKA1 NA 8769136, 7499250 Standard NM_003488 NA Approved AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17 uc002iux.3 Q92667 OTTHUMG00000140369 ENST00000337714.3:c.1678G>A chr17.hg19:g.55184503G>A ENSP00000337736:p.Gly560Arg NA A8K8Q1|D3DTZ0|Q13320|Q9BW14 hg19 CCDS11594.1 0.02 11.927668 GATxGAT COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 G 15.12 2.739281 0.49045 . . ENSG00000121057 ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273 T;T;T 0.18016 2.38;2.24;2.38 5.81 2.43 0.29744 . 0.215706 0.49916 D 0.000138 T 0.12902 0.0313 L 0.49640 1.575 0.32274 N 0.568496 B 0.23990 0.095 B 0.23419 0.046 T 0.05683 -1.0870 10 0.30078 T 0.28 -11.6089 4.2479 0.10680 0.2307:0.3603:0.409:0.0 . 560 Q92667 AKAP1_HUMAN R 560;560;602;560 ENSP00000337736:G560R;ENSP00000314075:G560R;ENSP00000443139:G560R ENSP00000314075:G560R G + 1 0 AKAP1 52539502 0.767000 0.28508 1.000000 0.80357 0.832000 0.47134 0.439000 0.21575 1.477000 0.48234 0.655000 0.94253 GGA NOVEL AKAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277069.1 2 18.961366 KEEP 0 0 0 63 2216 GG 1 1 0 + 16 60 599 0 0 41.690833 235 60 8644 374 ENST00000337714.3 0.063745 1 OR4D1 26689 __UNKNOWN__ __UNKNOWN__ 17 56233034 56233034 __UNKNOWN__ Missense_Mutation SNP C C A rs7218964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56233034C>A ENST00000268912.5 + 1 541 c.520C>A c.(520-522)Cta>Ata p.L174I NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 174 NA L -> I (in dbSNP:rs7218964). {ECO:0000269|PubMed:12213199, ECO:0000269|PubMed:9119360}. detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.L174I(1) kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 CCCCAATATCCTAGATAACTT 0.542 NA C||| 1329 0.265375 0.4539 0.2378 5008 , , NA 18842 0.1478 NA 0.1809 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C ILE/LEU 1783,2623 526.0+/-371.8 365,1053,785 113 110 111 520 5.6 1 17 dbSNP_116 111 1627,6973 301.3+/-305.4 151,1325,2824 yes missense OR4D1 NM_012374.1 5 516,2378,3609 AA,AC,CC 18.9186,40.4675,26.2187 probably-damaging 174/311 56233034 3410,9596 2203 4300 6503 SO:0001583 missense X89670 CCDS42365.1 17q22 2012-08-09 ENSG00000141194 ENSG00000141194 26689 GPCR / Class A : Olfactory receptors 8293 protein-coding gene gene with protein product OR4D3 NA 9119360 Standard NM_012374 NA Approved TPCR16 uc010wno.2 Q15615 ENST00000268912.5:c.520C>A chr17.hg19:g.56233034C>A ENSP00000365451:p.Leu174Ile NA B2RN14|Q8NGB1|Q96R76 hg19 CCDS42365.1 0.02 13.062248 ATCxTAG COVERED 508 0.2326007326007326 210 0.4268292682926829 72 0.19889502762430938 83 0.1451048951048951 143 0.18865435356200527 c 8.333 0.827031 0.16749 0.404675 0.189186 ENSG00000141194 ENST00000268912 T 0.00029 8.91 5.63 5.63 0.86233 GPCR, rhodopsin-like superfamily (1); 0.000000 0.32314 U 0.006262 T 0.00012 0.0000 N 0.04335 -0.225 0.34968 P 0.24717500000000003 B 0.31581 0.329 P 0.47075 0.536 T 0.04178 -1.0971 9 0.02654 T 1 -10.5232 12.168 0.54141 0.1708:0.8292:0.0:0.0 rs7218964;rs60643647;rs7218964 174 Q15615 OR4D1_HUMAN I 174 ENSP00000365451:L174I ENSP00000365451:L174I L + 1 2 OR4D1 53588033 0.000000 0.05858 0.984000 0.44739 0.100000 0.18952 -0.453000 0.06778 2.652000 0.90054 0.543000 0.68304 CTA NOVEL OR4D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000443364.1 1 11.7376 KEEP 0 0 0 39 1363 CC 1 1 0 + 13 60 483 0 0 30.582803 325 60 12080 432 ENST00000268912.5 0.038462 1 OR4D1 26689 __UNKNOWN__ __UNKNOWN__ 17 56233499 56233499 __UNKNOWN__ 3'UTR SNP C C T rs3863502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56233499C>T ENST00000268912.5 + 0 1006 NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 NA NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTTATTTTCCCACATGAAAA 0.353 NA C||| 1190 0.23762 0.3555 0.2248 5008 , , NA 15508 0.1478 NA 0.1809 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 C 339,1209 30,279,465 3 4 4 -1.2 0 17 dbSNP_108 4 428,2694 27,374,1160 no near-gene-3 57,653,1625 TT,TC,CC 13.7092,21.8992,16.424 56233499 767,3903 774 1561 2335 SO:0001624 3_prime_UTR_variant X89670 CCDS42365.1 17q22 2012-08-09 ENSG00000141194 ENSG00000141194 26689 GPCR / Class A : Olfactory receptors 8293 protein-coding gene gene with protein product OR4D3 NA 9119360 Standard NM_012374 NA Approved TPCR16 uc010wno.2 Q15615 ENST00000268912.5:c.*52C>T chr17.hg19:g.56233499C>T NA B2RN14|Q8NGB1|Q96R76 hg19 CCDS42365.1 0.02 2.404959 TTCxCAC COVERED NOVEL OR4D1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000443364.1 1 2.407801 KEEP 0 0 0 8 280 CC 0.99257 0.969607 0 + 6 60 215 0 0 16.133265 49 60 1735 66 ENST00000268912.5 0.109091 0.976865 RNF43 54894 __UNKNOWN__ __UNKNOWN__ 17 56492800 56492800 __UNKNOWN__ Missense_Mutation SNP T T C rs3744093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56492800T>C ENST00000584437.1 - 1 2094 c.139A>G c.(139-141)Att>Gtt p.I47V RNF43_ENST00000577716.1_Missense_Mutation_p.I47V|RNF43_ENST00000583753.1_Missense_Mutation_p.I47V|RNF43_ENST00000500597.2_Missense_Mutation_p.I47V|RNF43_ENST00000407977.2_Missense_Mutation_p.I47V|RNF43_ENST00000581868.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA Q68DV7 RNF43_HUMAN ring finger protein 43 47 NA I -> V (in dbSNP:rs3744093). {ECO:0000269|PubMed:14702039}. negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055) endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTCTGATAATAGCTTTCTGT 0.517 NA T||| 1872 0.373802 0.1694 0.5317 5008 , , NA 17973 0.5258 NA 0.3718 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 T VAL/ILE 958,3448 362.1+/-316.0 116,726,1361 100 92 95 139 3.2 1 17 dbSNP_107 95 3312,5288 494.7+/-373.9 638,2036,1626 yes missense RNF43 NM_017763.4 29 754,2762,2987 CC,CT,TT 38.5116,21.7431,32.831 benign 47/784 56492800 4270,8736 2203 4300 6503 SO:0001583 missense CCDS11607.1 17q23.2 2013-01-09 54894 RING-type (C3HC4) zinc fingers 18505 protein-coding gene gene with protein product 612482 NA Standard NM_017763 NM_017763 NA Approved FLJ20315, DKFZp781H0392, URCC uc002iwh.4 Q68DV7 ENST00000584437.1:c.139A>G chr17.hg19:g.56492800T>C ENSP00000463069:p.Ile47Val NA A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0 hg19 CCDS11607.1 0.02 15.071256 TAAxAGC COVERED 855 0.3914835164835165 94 0.1910569105691057 184 0.5082872928176796 298 0.5209790209790209 279 0.36807387862796836 T 9.051 0.992132 0.18966 0.217431 0.385116 ENSG00000108375 ENST00000407977;ENST00000500597 T;T 0.09350 3.24;2.99 5.49 3.19 0.36642 . 0.436978 0.21813 N 0.068731 T 0.00012 0.0000 N 0.14661 0.345 0.42420 P 0.007365999999999984 B;B 0.09022 0.002;0.001 B;B 0.08055 0.003;0.001 T 0.40924 -0.9537 9 0.17832 T 0.49 -11.177 6.2359 0.20762 0.0:0.1484:0.1361:0.7155 rs3744093;rs52822933;rs58301389;rs3744093 47;47 Q68DV7-2;Q68DV7 .;RNF43_HUMAN V 47 ENSP00000385328:I47V;ENSP00000441969:I47V ENSP00000385328:I47V I - 1 0 RNF43 53847799 0.997000 0.39634 1.000000 0.80357 0.998000 0.95712 1.086000 0.30853 0.973000 0.38340 0.533000 0.62120 ATT NOVEL RNF43-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444713.1 0 18.651058 KEEP 0 0 0 62 1872 TT 1 1 0 - 29 60 1099 0 0 80.397313 319 60 11492 497 ENST00000584437.1 0.083333 1 MTMR4 9110 __UNKNOWN__ __UNKNOWN__ 17 56584205 56584205 __UNKNOWN__ Missense_Mutation SNP A A C rs2302189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56584205A>C ENST00000323456.5 - 10 1014 c.890T>G c.(889-891)gTg>gGg p.V297G MTMR4_ENST00000579925.1_Missense_Mutation_p.V297G NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 297 Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}. NA V -> G (in dbSNP:rs2302189). negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGTGCTCTCCACTCCAGAGCA 0.587 NA A||| 1989 0.397165 0.2451 0.5591 5008 , , NA 19316 0.5298 NA 0.3688 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 A GLY/VAL 1228,3178 419.3+/-338.6 178,872,1153 53 50 51 http://www.ncbi.nlm.nih.gov/pubmed?term 890 4.6 1 17 dbSNP_100 51 3236,5364 479.8+/-370.2 625,1986,1689 yes missense MTMR4 NM_004687.4 109 803,2858,2842 CC,CA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 37.6279,27.8711,34.3226 possibly-damaging 297/1196 56584205 4464,8542 2203 4300 6503 SO:0001583 missense AB014547 CCDS11608.1 17q22-q23 2011-06-09 ENSG00000108389 9110 Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 7452 protein-coding gene gene with protein product 603559 NA 9736772 Standard NM_004687 NM_004687 NA Approved KIAA0647, ZFYVE11 uc002iwj.2 Q9NYA4 ENST00000323456.5:c.890T>G chr17.hg19:g.56584205A>C ENSP00000325285:p.Val297Gly NA D3DTZ6|Q8IV27|Q9Y4D5 hg19 CCDS11608.1 0.02 4.589325 TCCxCTC COVERED 892 0.4084249084249084 115 0.23373983739837398 192 0.5303867403314917 303 0.5297202797202797 282 0.3720316622691293 A 16.51 3.143399 0.57044 0.278711 0.376279 ENSG00000108389 ENST00000323456 D 0.92752 -3.1 5.63 4.55 0.56014 Myotubularin phosphatase domain (1);Myotubularin-related (1); 0.122608 0.56097 D 0.000038 T 0.00012 0.0000 L 0.55834 1.745 0.09310 P 0.99999917349 P 0.47191 0.891 P 0.49999 0.628 T 0.15521 -1.0434 9 0.30078 T 0.28 . 10.8537 0.46786 0.9263:0.0:0.0737:0.0 rs2302189;rs59550144;rs2302189 297 Q9NYA4 MTMR4_HUMAN G 297 ENSP00000325285:V297G ENSP00000325285:V297G V - 2 0 MTMR4 53939204 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 3.781000 0.55394 1.091000 0.41335 0.524000 0.50904 GTG NOVEL MTMR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444721.1 0 10.227378 KEEP 0 0 0 34 1017 AA 0.999998 0.999966 0 - 6 60 221 0 0 15.081887 95 60 3328 176 ENST00000323456.5 0.059406 0.999968 MTMR4 9110 __UNKNOWN__ __UNKNOWN__ 17 56585872 56585872 __UNKNOWN__ Missense_Mutation SNP G G C rs3744108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56585872G>C ENST00000323456.5 - 7 632 c.508C>G c.(508-510)Ctg>Gtg p.L170V MTMR4_ENST00000579925.1_Missense_Mutation_p.L170V NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 170 Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}. NA L -> V (in dbSNP:rs3744108). {ECO:0000269|PubMed:11302699, ECO:0000269|PubMed:9734811}. negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179) cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615) metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACGTTCTGCAGGTCAAAGCCC 0.527 NA G||| 1978 0.394968 0.2481 0.5591 5008 , , NA 22277 0.5188 NA 0.3648 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 G VAL/LEU 1248,3158 427.0+/-341.4 181,886,1136 200 153 169 508 5.1 1 17 dbSNP_107 169 3222,5378 485.9+/-371.7 619,1984,1697 yes missense MTMR4 NM_004687.4 32 800,2870,2833 CC,CG,GG 37.4651,28.325,34.3688 benign 170/1196 56585872 4470,8536 2203 4300 6503 SO:0001583 missense AB014547 CCDS11608.1 17q22-q23 2011-06-09 ENSG00000108389 9110 Zinc fingers, FYVE domain containing, Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins 7452 protein-coding gene gene with protein product 603559 NA 9736772 Standard NM_004687 NM_004687 NA Approved KIAA0647, ZFYVE11 uc002iwj.2 Q9NYA4 ENST00000323456.5:c.508C>G chr17.hg19:g.56585872G>C ENSP00000325285:p.Leu170Val NA D3DTZ6|Q8IV27|Q9Y4D5 hg19 CCDS11608.1 0.02 5.719209 GCAxGTC COVERED 879 0.4024725274725275 111 0.22560975609756098 192 0.5303867403314917 297 0.5192307692307693 279 0.36807387862796836 G 12.30 1.896361 0.33442 0.28325 0.374651 ENSG00000108389 ENST00000323456 D 0.92752 -3.1 6.08 5.11 0.69529 Myotubularin phosphatase domain (1); 0.134831 0.51477 D 0.000086 T 0.00012 0.0000 N 0.21545 0.675 0.22253 P 0.99925004 B 0.29590 0.25 B 0.29267 0.1 T 0.37407 -0.9707 9 0.35671 T 0.21 . 8.4868 0.33076 0.2239:0.0:0.7761:0.0 rs3744108;rs3744108 170 Q9NYA4 MTMR4_HUMAN V 170 ENSP00000325285:L170V ENSP00000325285:L170V L - 1 2 MTMR4 53940871 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.698000 0.37794 1.585000 0.49928 0.655000 0.94253 CTG NOVEL MTMR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444721.1 1 12.641506 KEEP 0 0 0 42 1518 GG 1 1 0 - 9 60 305 0 0 18.888048 190 60 7248 296 ENST00000323456.5 0.045226 1 SEPT4 5414 __UNKNOWN__ __UNKNOWN__ 17 56598439 56598439 __UNKNOWN__ Silent SNP T T C rs1057068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56598439T>C ENST00000317268.3 - 10 1373 c.1197A>G c.(1195-1197)acA>acG p.T399T SEPT4_ENST00000579371.1_Silent_p.T300T|SEPT4_ENST00000580844.1_Silent_p.T300T|SEPT4_ENST00000583114.1_Silent_p.T252T|SEPT4_ENST00000457347.2_Silent_p.T414T|SEPT4_ENST00000317256.6_Silent_p.T380T|SEPT4_ENST00000426861.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.T380T|SEPT4_ENST00000412945.3_Silent_p.T391T NM_004574.3 NP_004565.1 O43236 SEPT4_HUMAN septin 4 399 Septin-type G. NA apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382) cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTGTCTCCCGTGTCACATCCT 0.547 NA OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2007 0.400759 0.2693 0.5778 5008 , , NA 21447 0.5188 NA 0.3708 False NA ,,, NA NA NA 2504 0.362 NA NA NA NA 0 C ,,, 1323,3083 697.1+/-406.2 204,915,1084 182 158 166 1173,1197,,1140 -11 0 17 dbSNP_86 166 3292,5308 647.1+/-400.3 650,1992,1658 no coding-synonymous,coding-synonymous,utr-3,coding-synonymous SEPT4 NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2 ,,, 854,2907,2742 CC,CT,TT 38.2791,30.0272,35.4836 ,,, 391/471,399/479,,380/460 56598439 4615,8391 2203 4300 6503 SO:0001819 synonymous_variant AF073312 CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1 17q22 2013-01-21 2005-01-11 2005-01-12 ENSG00000108387 ENSG00000108387 5414 Septins 9165 protein-coding gene gene with protein product bradeoin, septin-M 603696 peanut-like 2 (Drosophila) PNUTL2 NA 9889007 Standard NM_080417 NM_001198713 NA Approved H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART uc002iwm.2 O43236 ENST00000317268.3:c.1197A>G chr17.hg19:g.56598439T>C 1016 B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58 hg19 CCDS11610.1 0.02 6.843376 CCGxGTC COVERED NOVEL SEPT4-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445420.1 0 13.836424 KEEP 0 0 0 46 1346 TT 1 1 0 - 12 60 445 0 0 30.626102 184 60 6439 292 ENST00000317268.3 0.061224 1 SEPT4 5414 __UNKNOWN__ __UNKNOWN__ 17 56603978 56603978 __UNKNOWN__ Intron SNP G G A rs2079703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56603978G>A ENST00000317268.3 - 2 534 SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000580844.1_Intron|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000583114.1_Intron|SEPT4_ENST00000457347.2_Intron|SEPT4_ENST00000317256.6_Intron|SEPT4_ENST00000580791.1_Intron|SEPT4_ENST00000426861.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Intron|SEPT4_ENST00000412945.3_Intron|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000578022.1_RNA NM_004574.3 NP_004565.1 O43236 SEPT4_HUMAN septin 4 NA NA apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382) cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) cacacacTCTGCTCCCTGCCC 0.552 NA G||| 1969 0.393171 0.2511 0.5692 5008 , , NA 13818 0.5198 NA 0.3668 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF073312 CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1 17q22 2013-01-21 2005-01-11 2005-01-12 ENSG00000108387 ENSG00000108387 5414 Septins 9165 protein-coding gene gene with protein product bradeoin, septin-M 603696 peanut-like 2 (Drosophila) PNUTL2 NA 9889007 Standard NM_080417 NM_001198713 NA Approved H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART uc002iwm.2 O43236 ENST00000317268.3:c.357+64C>T chr17.hg19:g.56603978G>A NA B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58 hg19 CCDS11610.1 0.02 -0.350865 TCTxCTC COVERED NOVEL SEPT4-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445420.1 3 7.222166 KEEP 0 0 0 24 831 GG 0.999909 0.877628 0 - 3 60 105 0 0 7.30552 37 60 1310 84 ENST00000317268.3 0.075 0.877708 TEX14 56155 __UNKNOWN__ __UNKNOWN__ 17 56654690 56654690 __UNKNOWN__ Intron SNP T T C rs1267542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56654690T>C ENST00000240361.8 - 22 3544 TEX14_ENST00000389934.3_Intron|TEX14_ENST00000349033.5_Intron Q8IWB6 TEX14_HUMAN testis expressed 14 NA NA attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091) cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496) ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCATTTAACATTGCATCTATG 0.358 NA T||| 1965 0.392372 0.2504 0.5663 5008 , , NA 15270 0.5188 NA 0.3658 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 T ,, 1272,3132 192,888,1122 63 58 60 ,, -8.7 0 17 dbSNP_87 60 3227,5373 627,1973,1700 no intron,intron,intron TEX14 NM_001201457.1,NM_031272.4,NM_198393.3 ,, 819,2861,2822 CC,CT,TT 37.5233,28.8828,34.597 ,, ,, 56654690 4499,8505 2202 4300 6502 SO:0001627 intron_variant AF285601 CCDS32692.1, CCDS32693.1, CCDS56042.1 17q22 2013-09-20 2007-03-13 ENSG00000121101 ENSG00000121101 56155 11737 protein-coding gene gene with protein product cancer/testis antigen 113 605792 testis expressed sequence 14 NA 11279525, 12711554 Standard NM_031272 NA Approved CT113 uc010dcz.2 Q8IWB6 OTTHUMG00000179245 ENST00000240361.8:c.3458+45A>G chr17.hg19:g.56654690T>C NA A6NH19|Q7RTP3|Q8ND97|Q9BXT9 hg19 CCDS56042.1 0.02 2.253824 ACAxTGC COVERED NOVEL TEX14-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445446.1 1 7.222053 KEEP 0 0 0 24 770 TT 0.999909 0.999829 0 - 8 60 316 0 0 23.497687 87 60 3237 155 ENST00000240361.8 0.084211 0.999919 RAD51C 5889 __UNKNOWN__ __UNKNOWN__ 17 56772341 56772341 __UNKNOWN__ Silent SNP A A G rs45511291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:56772341A>G ENST00000337432.4 + 2 266 c.195A>G c.(193-195)agA>agG p.R65R RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000421782.2_Silent_p.R65R|RAD51C_ENST00000583539.1_Silent_p.R65R NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 65 Required for Holliday junction resolution activity. NA blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657) ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094) upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAATTATCAGAAGAGAATGTC 0.373 NA Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 A||| 41 0.0081869 0.0008 0.0 5008 , , NA 19356 0.0397 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A , 5,4401 9.9+/-24.2 0,5,2198 91 98 95 195,195 4.7 1 17 dbSNP_127 95 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous RAD51C NM_002876.2,NM_058216.1 , 0,6,6497 GG,GA,AA 0.0116,0.1135,0.0461 , 65/136,65/377 56772341 6,13000 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database BRCAX AF029670 CCDS11611.1, CCDS45745.1 17q25.1 2014-09-17 2013-07-02 ENSG00000108384 ENSG00000108384 5889 Fanconi anemia, complementation groups 9820 protein-coding gene gene with protein product 602774 RAD51 (S. cerevisiae) homolog C, RAD51 homolog C (S. cerevisiae) NA 9469824, 22167183 Standard NM_058216 NM_058216 NA Approved RAD51L2, FANCO uc002iwu.3 O43502 OTTHUMG00000141292 ENST00000337432.4:c.195A>G chr17.hg19:g.56772341A>G NA O43503|Q3B783 hg19 CCDS11611.1 0.02 6.035322 CAGxAGA COVERED NOVEL RAD51C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280540.2 1 11.735444 KEEP 0 0 0 39 1272 AA 1 1 0 + 9 60 320 0 0 21.182291 154 60 5517 227 ENST00000337432.4 0.055215 1 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57721910 57721910 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:57721910T>G ENST00000269122.3 + 2 524 CLTC_ENST00000393043.1_Intron|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) gttttttttttgtttgtttgt 0.393 NA T ALK, TFE3 ALCL, renal NA NA NA NA NA NA NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.250+66T>G chr17.hg19:g.57721910T>G NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 2.108784 TTTxGTT COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 0 2.241364 KEEP 0 1 33 19 598 TT 0.999869 0.994292 0 + 10 60 348 0 2 27.382379 56 70 2018 89 ENST00000269122.3 0.151515 0.994422 CLTC 1213 __UNKNOWN__ __UNKNOWN__ 17 57754591 57754591 __UNKNOWN__ Intron SNP A A G rs28465103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:57754591A>G ENST00000269122.3 + 17 3070 CLTC_ENST00000393043.1_Intron|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572) clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982) clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198) CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTGCATTTTTAAAAACCTGTT 0.373 NA T ALK, TFE3 ALCL, renal A||| 1539 0.307308 0.3608 0.1585 5008 , , NA 20272 0.4812 NA 0.1004 False NA ,,, NA NA NA 2504 0.3742 NA NA NA Dom yes 17 17q11-qter 1213 clathrin, heavy polypeptide (Hc) L 0 A 1336,3068 204,928,1070 32 31 31 -5.3 0 17 dbSNP_125 31 799,7797 40,719,3539 no intron CLTC NM_004859.3 244,1647,4609 GG,GA,AA 9.295,30.3361,16.4231 57754591 2135,10865 2202 4298 6500 SO:0001627 intron_variant X55878 CCDS32696.1, CCDS74115.1 17q23.1 2013-09-19 2006-09-29 ENSG00000141367 ENSG00000141367 1213 2092 protein-coding gene gene with protein product 118955 clathrin, heavy polypeptide (Hc), clathrin, heavy chain, clathrin, heavy polypeptide-like 2 CLTCL2 NA 1765375, 7584026 Standard NM_004859 NM_004859 NA Approved Hc uc002ixq.1 Q00610 OTTHUMG00000134279 ENST00000269122.3:c.2796+42A>G chr17.hg19:g.57754591A>G NA D3DU00|Q6N0A0|Q86TF2 hg19 CCDS32696.1 0.02 1.935548 TTTxAAA COVERED NOVEL CLTC-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258859.1 0 3.884711 KEEP 0 0 0 13 368 AA 0.994391 0.986529 0 + 6 60 217 0 0 15.959699 57 60 2041 80 ENST00000269122.3 0.095238 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 57927724 57927724 __UNKNOWN__ IGR SNP A A G rs79417738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:57927724A>G NA NA RNU6-450P (2819 upstream) : TUBD1 (9126 downstream) NA NA NA cgaaagagcgagactccgtct 0.577 NA A||| 1137 0.227037 0.0356 0.1455 5008 , , NA 11570 0.4177 NA 0.1829 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.57927724A>G NA hg19 0.02 -0.042503 GCGxGAC UNCOVERED NOVEL 0 1 2.407672 KEEP 1 0 0 8 267 AA 0 0 0 5 60 150 0 0 17.220088 0 0 0 19 1 0.024074 TBC1D3P1-DHX40P1 653645 __UNKNOWN__ __UNKNOWN__ 17 58086503 58086503 __UNKNOWN__ lincRNA SNP G G A rs62083675 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:58086503G>A ENST00000407042.3 - 0 1027 TBC1D3P1-DHX40P1 readthrough transcribed pseudogene NA NA NA GGAGTCCTCGGGGTCTCTGTG 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 17q23.1 2014-09-10 2012-12-07 ENSG00000267104 ENSG00000267104 653645 42362 other readthrough TBC1D3P1-DHX40P1 readthrough (non-protein coding) NA Standard NR_002924 NR_002924 NA Approved uc002iyf.2 OTTHUMG00000179977 ENST00000407042.3: chr17.hg19:g.58086503G>A NA hg19 0.02 -0.228102 TCGxGGT COVERED NOVEL TBC1D3P1-DHX40P1-201 KNOWN basic lincRNA NA lincRNA 0 2.708564 KEEP 8 0 0 9 313 GG 0.99254 0.578582 0 - 8 30 283 0 0 25.147245 18 47 677 50 ENST00000407042.3 0.307692 0.58293 USP32 84669 __UNKNOWN__ __UNKNOWN__ 17 58284554 58284554 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:58284554C>G ENST00000300896.4 - 25 3120 USP32_ENST00000592339.1_Intron NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 NA NA protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) Golgi apparatus (GO:0005794)|membrane (GO:0016020) calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843) NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) GAAAAGTTCTCTCTCTAACAT 0.363 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF533230 CCDS32697.1 17q23.3 2013-01-10 2005-08-08 ENSG00000170832 ENSG00000170832 84669 Ubiquitin-specific peptidases, EF-hand domain containing 19143 protein-coding gene gene with protein product 607740 ubiquitin specific protease 32 NA 12838346 Standard NM_032582 NM_032582 NA Approved NY-REN-60, USP10 uc002iyo.1 Q8NFA0 ENST00000300896.4:c.2926-61G>C chr17.hg19:g.58284554C>G NA Q7Z5T3|Q9BX85|Q9Y591 hg19 CCDS32697.1 0.02 7.830243 TCTxTCT COVERED NOVEL USP32-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449235.2 2 7.223538 KEEP 44 0 0 24 860 CC 0.997832 0.997832 0 - 7 60 250 0 0 14.583463 235 60 8842 328 ENST00000300896.4 0.028926 1 TBX4 9496 __UNKNOWN__ __UNKNOWN__ 17 59533868 59533868 __UNKNOWN__ Missense_Mutation SNP G G C rs3744448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:59533868G>C ENST00000240335.1 + 1 62 c.17G>C c.(16-18)gGc>gCc p.G6A TBX4_ENST00000393853.4_Missense_Mutation_p.G6A NM_018488.2 NP_060958.2 P57082 TBX4_HUMAN T-box 4 6 NA G -> A (in dbSNP:rs3744448). {ECO:0000269|PubMed:15106123, ECO:0000269|PubMed:15489334}. angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CAGGATAAGGGCCTGTCCGAG 0.726 NA G||| 902 0.180112 0.1067 0.2104 5008 , , NA 11470 0.3016 NA 0.1571 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G ALA/GLY 456,3900 24,408,1746 14 12 13 17 4.3 1 17 dbSNP_107 13 1074,7492 78,918,3287 yes missense TBX4 NM_018488.2 60 102,1326,5033 CC,CG,GG 12.5379,10.4683,11.8403 possibly-damaging 6/546 59533868 1530,11392 2178 4283 6461 SO:0001583 missense AF188703 CCDS11629.1 17q21-q22 2005-10-11 ENSG00000121075 9496 T-boxes 11603 protein-coding gene gene with protein product 601719 NA 10945475 Standard NM_018488 NM_018488 NA Approved uc002izi.3 P57082 ENST00000240335.1:c.17G>C chr17.hg19:g.59533868G>C ENSP00000240335:p.Gly6Ala NA A5PKU7|B2RMT1|B7ZLV3 hg19 CCDS11629.1 0.02 3.702243 AGGxCCT COVERED 451 0.2065018315018315 70 0.14227642276422764 71 0.19613259668508287 181 0.31643356643356646 129 0.17018469656992086 G 11.83 1.756541 0.31137 0.104683 0.125379 ENSG00000121075 ENST00000393853;ENST00000240335 D;D 0.85484 -1.99;-1.99 4.33 4.33 0.51752 . 0.549969 0.14940 N 0.289590 T 0.00012 0.0000 N 0.08118 0 0.34440 P 0.300478 B;B 0.31968 0.349;0.349 B;B 0.32533 0.147;0.147 T 0.03514 -1.1029 8 . . . . 13.955 0.64142 0.0:0.0:1.0:0.0 rs3744448;rs3744448 6;6 A5PKU7;P57082 .;TBX4_HUMAN A 6 ENSP00000377435:G6A;ENSP00000240335:G6A . G + 2 0 TBX4 56888650 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.673000 0.54591 1.938000 0.56188 0.561000 0.74099 GGC NOVEL TBX4-002 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000449649.1 0 12.039086 KEEP 0 0 0 40 1408 GG 1 1 0 + 7 60 236 0 0 15.030011 127 60 4708 221 ENST00000240335.1 0.052239 1 TBX4 9496 __UNKNOWN__ __UNKNOWN__ 17 59534987 59534987 __UNKNOWN__ Silent SNP T T G rs3744447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:59534987T>G ENST00000240335.1 + 2 321 c.276T>G c.(274-276)gcT>gcG p.A92A TBX4_ENST00000393853.4_Silent_p.A92A NM_018488.2 NP_060958.2 P57082 TBX4_HUMAN T-box 4 92 NA angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TCACTAAGGCTGGCAGGTCAG 0.627 NA T||| 1015 0.202676 0.1097 0.2219 5008 , , NA 14846 0.3353 NA 0.166 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 T 541,3865 242.5+/-252.5 34,473,1696 81 75 77 276 -3.4 1 17 dbSNP_107 77 1364,7236 265.7+/-286.3 102,1160,3038 no coding-synonymous TBX4 NM_018488.2 136,1633,4734 GG,GT,TT 15.8605,12.2787,14.6471 92/546 59534987 1905,11101 2203 4300 6503 SO:0001819 synonymous_variant AF188703 CCDS11629.1 17q21-q22 2005-10-11 ENSG00000121075 9496 T-boxes 11603 protein-coding gene gene with protein product 601719 NA 10945475 Standard NM_018488 NM_018488 NA Approved uc002izi.3 P57082 ENST00000240335.1:c.276T>G chr17.hg19:g.59534987T>G NA A5PKU7|B2RMT1|B7ZLV3 hg19 CCDS11629.1 0.02 9.212089 GGCxGGC COVERED NOVEL TBX4-002 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000449649.1 0 8.423247 KEEP 0 0 0 28 856 TT 0.999997 0.999997 0 + 9 60 340 0 0 21.961055 212 60 7729 288 ENST00000240335.1 0.040724 1 TBX4 9496 __UNKNOWN__ __UNKNOWN__ 17 59544810 59544810 __UNKNOWN__ Intron SNP G G A rs3744442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:59544810G>A ENST00000240335.1 + 4 446 TBX4_ENST00000393853.4_Intron NM_018488.2 NP_060958.2 P57082 TBX4_HUMAN T-box 4 NA NA angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 AAGAGGGGACGGGGAATCTGG 0.547 NA G||| 597 0.119209 0.062 0.1326 5008 , , NA 17487 0.1964 NA 0.0994 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF188703 CCDS11629.1 17q21-q22 2005-10-11 ENSG00000121075 9496 T-boxes 11603 protein-coding gene gene with protein product 601719 NA 10945475 Standard NM_018488 NM_018488 NA Approved uc002izi.3 P57082 ENST00000240335.1:c.402-61G>A chr17.hg19:g.59544810G>A NA A5PKU7|B2RMT1|B7ZLV3 hg19 CCDS11629.1 0.02 4.557154 GACxGGG COVERED NOVEL TBX4-002 KNOWN alternative_5_UTR|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000449649.1 1 2.404987 KEEP 0 0 0 8 234 GG 0.99257 0.99257 0 + 11 60 411 0 0 29.657852 128 60 4149 162 ENST00000240335.1 0.079137 1 INTS2 57508 __UNKNOWN__ __UNKNOWN__ 17 59969000 59969000 __UNKNOWN__ Silent SNP T T C rs753765 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:59969000T>C ENST00000251334.6 - 14 2104 c.1749A>G c.(1747-1749)caA>caG p.Q583Q INTS2_ENST00000444766.3_Silent_p.Q591Q Q9H0H0 INT2_HUMAN integrator complex subunit 2 591 NA snRNA processing (GO:0016180) integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 AAGGAAGTAATTGAGGATGAA 0.368 NA T||| 669 0.133586 0.0136 0.0504 5008 , , NA 15194 0.2381 NA 0.0646 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 T 63,3675 1,61,1807 100 97 98 1773 -7.1 0.4 17 dbSNP_86 98 507,7695 20,467,3614 no coding-synonymous INTS2 NM_020748.2 21,528,5421 CC,CT,TT 6.1814,1.6854,4.7739 591/1205 59969000 570,11370 1869 4101 5970 SO:0001819 synonymous_variant AB033113 CCDS45750.1 17q23.2 2006-04-26 2006-03-15 2006-03-15 ENSG00000108506 57508 29241 protein-coding gene gene with protein product 611346 KIAA1287 KIAA1287 NA 16239144 Standard NM_020748 NR_026641 NA Approved INT2 uc002izn.3 Q9H0H0 ENST00000251334.6:c.1749A>G chr17.hg19:g.59969000T>C NA Q9ULD3 hg19 0.02 9.828418 TAAxTGA COVERED NOVEL INTS2-002 NOVEL basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000445369.1 2 13.842943 KEEP 0 0 0 46 1493 TT 1 1 0 - 12 60 472 0 0 32.727896 207 60 7504 334 ENST00000251334.6 0.054795 1 EFCAB3 146779 __UNKNOWN__ __UNKNOWN__ 17 60447714 60447714 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:60447714T>G ENST00000450662.2 + 1 105 NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 NA NA calcium ion binding (GO:0005509) cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TTATGTTACCTTCTTAGAAGT 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 323 285 297 NA NA 17 NA 60447714 692 1591 2283 SO:0001627 intron_variant AK098684 CCDS11632.1, CCDS45751.1 17q23.3 2013-01-10 ENSG00000172421 ENSG00000172421 146779 EF-hand domain containing 26379 protein-coding gene gene with protein product NA 12477932 Standard NM_173503 NM_173503 NA Approved FLJ25818 uc010wpc.2 Q8N7B9 OTTHUMG00000179175 ENST00000450662.2:c.34+31T>G chr17.hg19:g.60447714T>G NA J3KQM8 hg19 CCDS45751.1 0.02 17.390684 ACCxTCT COVERED NOVEL EFCAB3-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000379315.1 2 6.920355 KEEP 0 0 0 23 729 TT 0.999892 0.999892 0 + 33 60 1196 0 0 84.256665 413 60 14742 514 ENST00000450662.2 0.073991 1 TLK2 11011 __UNKNOWN__ __UNKNOWN__ 17 60654327 60654327 __UNKNOWN__ Intron SNP C C T rs59523807|rs552478770|rs369158508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:60654327C>T ENST00000346027.5 + 13 1459 TLK2_ENST00000343388.7_Intron|TLK2_ENST00000326270.9_Intron|TLK2_ENST00000542523.1_Intron|TLK2_ENST00000582809.1_Intron NM_006852.3 NP_006843.2 Q86UE8 TLK2_HUMAN tousled-like kinase 2 NA NA cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672) intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 ctttcttcttctttttttttt 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB004884 CCDS11633.1, CCDS45753.1, CCDS62283.1 17q23 2008-07-18 11011 11842 protein-coding gene gene with protein product 608439 NA 9427565, 10523312 Standard NM_006852 NM_006852 NA Approved PKU-ALPHA, MGC44450 uc002izz.4 Q86UE8 ENST00000346027.5:c.1188+191C>T chr17.hg19:g.60654327C>T NA D3DU07|Q9UKI7|Q9Y4F7 hg19 CCDS11633.1 0.02 1.727557 CTTxTTT COVERED NOVEL TLK2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445139.1 1 3.007271 KEEP 1 0 0 10 311 CC 0.992708 0.992513 0 + 12 60 165 0 1 8.26551 68 60 2120 103 ENST00000346027.5 0.15 0.999804 MRC2 9902 __UNKNOWN__ __UNKNOWN__ 17 60753904 60753904 __UNKNOWN__ Intron SNP A A C rs4968617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:60753904A>C ENST00000303375.5 + 11 2236 NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 NA NA collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649) focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020) carbohydrate binding (GO:0030246)|collagen binding (GO:0005518) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 TGAGCCCCTTATTTGACTTGC 0.617 NA C||| 2413 0.481829 0.4992 0.4553 5008 , , NA 19520 0.5794 NA 0.3479 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 C 2131,2275 597.8+/-388.9 536,1059,608 72 79 76 1.6 0 17 dbSNP_111 76 3020,5580 664.2+/-402.1 527,1966,1807 no intron MRC2 NM_006039.3 1063,3025,2415 CC,CA,AA 35.1163,48.3659,39.6048 60753904 5151,7855 2203 4300 6503 SO:0001627 intron_variant AB014609 CCDS11634.1 17q23 2011-08-30 ENSG00000011028 9902 CD molecules, C-type lectin domain containing 16875 protein-coding gene gene with protein product 612264 NA 9734811, 8702911 Standard NM_006039 NA Approved KIAA0709, ENDO180, CLEC13E, CD280 uc002jad.4 Q9UBG0 ENST00000303375.5:c.1834+12A>C chr17.hg19:g.60753904A>C NA A6H8K4|D3DU08|Q7LGE7|Q9Y5P9 hg19 CCDS11634.1 0.02 7.382929 CTTxTTT COVERED NOVEL MRC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445152.1 2 12.935898 KEEP 0 0 0 43 1275 AA 1 1 0 + 16 60 591 0 0 43.294608 164 60 5942 272 ENST00000303375.5 0.088889 1 MARCH10 162333 __UNKNOWN__ __UNKNOWN__ 17 60813245 60813245 __UNKNOWN__ Intron SNP T T C rs17683602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:60813245T>C ENST00000311269.5 - 6 2212 RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Intron|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Intron|MARCH10_ENST00000456609.2_Intron|RP11-156L14.1_ENST00000582564.1_RNA NM_152598.2 NP_689811.2 Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 ATGCTAATTTTGGCCTTGGGA 0.363 NA C||| 1836 0.366613 0.4781 0.4107 5008 , , NA 17952 0.2083 NA 0.4225 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 C , 1906,2436 451,1004,716 22 24 23 , -2.2 0 17 dbSNP_123 23 3196,5202 723,1750,1726 no intron,intron MARCH10 NM_001100875.1,NM_152598.2 , 1174,2754,2442 CC,CT,TT 38.0567,43.8968,40.0471 , , 60813245 5102,7638 2171 4199 6370 SO:0001627 intron_variant AK093076 CCDS11635.1, CCDS74122.1, CCDS74123.1 17q23.3 2013-01-09 2012-02-23 2007-08-20 ENSG00000173838 162333 RING-type (C3HC4) zinc fingers, MARCH membrane-associated ring fingers 26655 protein-coding gene gene with protein product 613337 ring finger protein 190, membrane-associated ring finger (C3HC4) 10 RNF190 NA 17604280 Standard NM_152598 XM_005257103 NA Approved FLJ35757, MARCH-X uc002jag.4 Q8NA82 ENST00000311269.5:c.1937+46A>G chr17.hg19:g.60813245T>C NA D3DU09|Q8IYS7|Q8N7Z7 hg19 CCDS11635.1 0.02 1.798416 TTTxGGC COVERED NOVEL MARCH10-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445252.1 0 3.909442 KEEP 0 0 0 13 371 TT 0.994391 0.994227 0 - 4 60 139 0 0 8.706654 86 60 3051 113 ENST00000311269.5 0.044444 0.999835 KCNH6 81033 __UNKNOWN__ __UNKNOWN__ 17 61600717 61600717 __UNKNOWN__ 5'UTR SNP A A G rs71376915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:61600717A>G ENST00000581784.1 + 0 23 KCNH6_ENST00000456941.2_5'UTR|KCNH6_ENST00000580652.1_5'Flank NM_173092.1 NP_775115.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 NA NA potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162) CCGAGGACAGACGGAGACGCC 0.781 NA G||| 2463 0.491813 0.6891 0.4452 5008 , , NA 6935 0.255 NA 0.6153 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 G , 914,470 309,296,87 10 12 11 , -5.3 0 17 dbSNP_130 11 1867,1309 583,701,304 no utr-5,utr-5 KCNH6 NM_030779.2,NM_173092.1 , 892,997,391 GG,GA,AA 41.2154,33.9595,39.0132 , , 61600717 2781,1779 692 1588 2280 SO:0001623 5_prime_UTR_variant AF311913 CCDS11638.1, CCDS11639.1, CCDS62290.1 17q23.3 2012-07-05 ENSG00000173826 81033 Potassium channels, Voltage-gated ion channels / Potassium channels 18862 protein-coding gene gene with protein product 608168 NA 16382104 Standard NM_030779 NM_030779 NA Approved Kv11.2, erg2, HERG2 uc002jay.3 Q9H252 ENST00000581784.1:c.-58A>G chr17.hg19:g.61600717A>G NA Q9BRD7 hg19 CCDS11639.1 0.02 1.901213 CAGxCGG COVERED NOVEL KCNH6-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000443849.1 0 4.81452 KEEP 0 0 0 16 504 AA 0.997832 0.992926 0 + 5 60 167 0 0 11.36883 62 60 2156 88 ENST00000581784.1 0.074627 0.995084 MAP3K3 4215 __UNKNOWN__ __UNKNOWN__ 17 61710166 61710166 __UNKNOWN__ Intron SNP T T C rs56394992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:61710166T>C ENST00000577395.1 + 2 176 MAP3K3_ENST00000361357.3_Intron|MAP3K3_ENST00000579585.1_Intron|MAP3K3_ENST00000361733.3_Intron|MAP3K3_ENST00000584573.1_Intron Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 NA NA activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777) cytosol (GO:0005829) ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672) breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 TAGGCAGGTGTGTGTGACCCT 0.488 NA T||| 39 0.00778754 0.0 0.0 5008 , , NA 19168 0.0387 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T , 1,4405 2.1+/-5.4 0,1,2202 100 95 97 , 0.6 1 17 dbSNP_129 97 2,8598 2.2+/-6.3 0,2,4298 no intron,intron MAP3K3 NM_002401.3,NM_203351.1 , 0,3,6500 CC,CT,TT 0.0233,0.0227,0.0231 , , 61710166 3,13003 2203 4300 6503 SO:0001627 intron_variant U78876 CCDS32701.1, CCDS32702.1 17q 2011-06-09 ENSG00000198909 4215 Mitogen-activated protein kinase cascade / Kinase kinase kinases 6855 protein-coding gene gene with protein product MAP/ERK kinase kinase 3, MAPK/ERK kinase kinase 3 602539 MEKK3 NA 9006902 Standard NM_002401 NM_002401 NA Approved MAPKKK3 uc002jbf.3 Q99759 ENST00000577395.1:c.126+4T>C chr17.hg19:g.61710166T>C NA B2RCW2|D3DU15|Q5BKZ6|Q8N3I9 hg19 0.02 5.209664 GTGxGTG COVERED NOVEL MAP3K3-005 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000443869.1 0 9.026443 KEEP 0 0 0 30 926 TT 0.999997 0.999991 0 + 8 60 262 0 0 17.582817 102 60 3616 176 ENST00000577395.1 0.072727 0.999994 DDX42 11325 __UNKNOWN__ __UNKNOWN__ 17 61884079 61884079 __UNKNOWN__ Intron SNP A A C rs148412819 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:61884079A>C ENST00000578681.1 + 9 1447 DDX42_ENST00000359353.5_Intron|DDX42_ENST00000389924.2_Intron|DDX42_ENST00000457800.2_Intron|DDX42_ENST00000583590.1_Intron NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 NA NA protein localization (GO:0008104) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 TTAATTTAAAAACAAATCACA 0.323 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 18694 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015505 CCDS32704.1 17q23 2014-02-14 2013-05-13 ENSG00000198231 11325 DEAD-boxes 18676 protein-coding gene gene with protein product splicing factor 3b, subunit 8 613369 DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 NA 10727850, 16397294 Standard NM_007372 NM_007372 NA Approved RNAHP, RHELP, SF3b125, SF3B8 uc002jbv.3 Q86XP3 ENST00000578681.1:c.846+65A>C chr17.hg19:g.61884079A>C NA A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8 hg19 CCDS32704.1 0.02 4.460997 AAAxACA COVERED NOVEL DDX42-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000444368.1 0 3.911057 KEEP 0 0 0 13 380 AA 0.995343 0.995343 0 + 5 60 195 0 0 12.735527 122 60 4360 146 ENST00000578681.1 0.03937 1 ICAM2 3384 __UNKNOWN__ __UNKNOWN__ 17 62081120 62081120 __UNKNOWN__ Missense_Mutation SNP G G A rs200838101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:62081120G>A ENST00000412356.1 - 5 887 c.533C>T c.(532-534)aCg>aTg p.T178M ICAM2_ENST00000418105.1_Missense_Mutation_p.T178M|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Missense_Mutation_p.T154M|ICAM2_ENST00000578379.1_Missense_Mutation_p.T77M|ICAM2_ENST00000579687.1_Missense_Mutation_p.T178M|ICAM2_ENST00000449662.2_Missense_Mutation_p.T178M|ICAM2_ENST00000579788.1_Missense_Mutation_p.T178M|C17orf72_ENST00000412177.1_3'UTR NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 178 Ig-like C2-type 2. NA extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931) integrin binding (GO:0005178) large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 TCTGTCAGCCGTGCTGTTGAA 0.587 NA G||| 5 0.000998403 0.0 0.0014 5008 , , NA 20782 0.003 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,,,, 0,4406 0,0,2203 76 64 68 533,533,533,533,533,,,, 1.3 0 17 68 1,8599 1.2+/-3.3 0,1,4299 yes missense,missense,missense,missense,missense,utr-3,utr-3,utr-3,utr-3 ICAM2,C17orf72 NM_000873.3,NM_001099786.1,NM_001099787.1,NM_001099788.1,NM_001099789.1,NM_001164257.1,NM_001191029.1,NM_001191030.1,NM_001191031.1 81,81,81,81,81,,,, 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 benign,benign,benign,benign,benign,,,, 178/276,178/276,178/276,178/276,178/276,,,, 62081120 1,13005 2203 4300 6503 SO:0001583 missense CCDS11657.1 17q23.3 2014-01-30 ENSG00000108622 ENSG00000108622 3384 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Endogenous ligands 5345 protein-coding gene gene with protein product 146630 NA 1769660 Standard NM_001099786 NA Approved CD102 uc002jdx.4 P13598 ENST00000412356.1:c.533C>T chr17.hg19:g.62081120G>A ENSP00000415283:p.Thr178Met NA Q14600 hg19 CCDS11657.1 0.02 13.373504 GCCxTGC COVERED 3 0.0013736263736263737 0 0.0 1 0.0027624309392265192 2 0.0034965034965034965 0 0.0 G 9.707 1.156047 0.21454 0.0 1.16E-4 ENSG00000108622 ENST00000412356;ENST00000418105;ENST00000449662 T;T;T 0.04454 3.62;3.62;3.62 5.54 1.33 0.21861 Immunoglobulin-like fold (1); 0.788223 0.12105 N 0.499096 T 0.03263 0.0095 L 0.37507 1.11 0.09310 N 1 P 0.38473 0.633 B 0.24974 0.057 T 0.43523 -0.9386 10 0.39692 T 0.17 -4.0273 6.0204 0.19626 0.2364:0.0:0.6279:0.1357 . 178 P13598 ICAM2_HUMAN M 178 ENSP00000415283:T178M;ENSP00000388666:T178M;ENSP00000392634:T178M ENSP00000415283:T178M T - 2 0 ICAM2 59434852 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.111000 0.15458 0.045000 0.15804 -1.134000 0.01955 ACG NOVEL ICAM2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000443687.1 2 17.455118 KEEP 0 0 0 58 1940 GG 1 1 0 - 19 60 687 0 0 45.767995 329 60 11346 471 ENST00000412356.1 0.054598 1 RGS9 8787 __UNKNOWN__ __UNKNOWN__ 17 63173756 63173756 __UNKNOWN__ Intron SNP A A G rs9896245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:63173756A>G ENST00000262406.9 + 9 649 RGS9_ENST00000443584.3_Intron|RGS9_ENST00000449996.3_Intron|RGS9_ENST00000577186.1_Intron NM_003835.3 NP_003826.2 O75916 RGS9_HUMAN regulator of G-protein signaling 9 NA NA dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601) cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 TTCTCAGCTCAATCTCACAAT 0.473 NA G||| 2364 0.472045 0.8434 0.4654 5008 , , NA 23267 0.3323 NA 0.2247 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF071476 CCDS42373.1, CCDS45764.1 17q24 2008-07-18 2007-08-14 ENSG00000108370 8787 Regulators of G-protein signaling 10004 protein-coding gene gene with protein product regulator of G protein signalling 9, regulator of G protein signalling 9L, regulator of G-protein signaling 9L 604067 regulator of G-protein signalling 9 NA 9765512 Standard NM_003835 NM_003835 NA Approved PERRS, RGS9L, MGC26458, MGC111763 uc002jfe.3 O75916 ENST00000262406.9:c.583-94A>G chr17.hg19:g.63173756A>G NA A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33 hg19 CCDS42373.1 0.02 15.727217 CTCxATC COVERED NOVEL RGS9-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445885.1 0 7.326127 KEEP 0 3 99 59 1874 AA 1 1 0 + 21 60 713 0 0 46.797282 331 60 12303 526 ENST00000262406.9 0.059659 1 AXIN2 8313 __UNKNOWN__ __UNKNOWN__ 17 63532517 63532517 __UNKNOWN__ Silent SNP G G A rs35415678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:63532517G>A ENST00000375702.5 - 6 1975 c.1867C>T c.(1867-1869)Ctg>Ttg p.L623L AXIN2_ENST00000307078.5_Silent_p.L688L Q9Y2T1 AXIN2_HUMAN axin 2 672 NA Missing (in Ref. 2; AAF22799). {ECO:0000305}. bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244) beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625) p.L688fs*1(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GGTGGGGTCAGGGGAGGCATC 0.687 NA Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome G||| 823 0.164337 0.2156 0.1715 5008 , , NA 15659 0.2887 NA 0.0636 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 1 Deletion - Frameshift(1) large_intestine(1) GRCh37 CM067349 AXIN2 M rs35415678 G 908,3496 310.8+/-291.8 105,698,1399 24 25 25 2062 2.4 1 17 dbSNP_126 25 349,8251 113.1+/-173.2 5,339,3956 no coding-synonymous AXIN2 NM_004655.3 110,1037,5355 AA,AG,GG 4.0581,20.6176,9.6663 688/844 63532517 1257,11747 2202 4300 6502 SO:0001819 synonymous_variant Familial Cancer Database Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome AF078165 CCDS11662.1 17q24.1 2014-09-17 2008-08-01 ENSG00000168646 8313 904 protein-coding gene gene with protein product conductin, axil 604025 NA 10049590 Standard NM_004655 NM_004655 NA Approved MGC126582, DKFZp781B0869 uc002jfi.3 Q9Y2T1 OTTHUMG00000179353 ENST00000375702.5:c.1867C>T chr17.hg19:g.63532517G>A NA Q3MJ88|Q9H3M6|Q9UH84 hg19 0.02 4.354805 TCAxGGG COVERED NOVEL AXIN2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000445901.1 1 13.216651 KEEP 0 0 0 44 1536 GG 1 0.999984 0 - 7 60 239 0 0 16.078289 98 60 3713 171 ENST00000375702.5 0.066667 0.999984 AXIN2 8313 __UNKNOWN__ __UNKNOWN__ 17 63554307 63554307 __UNKNOWN__ Silent SNP A A G rs2240307 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:63554307A>G ENST00000375702.5 - 1 540 c.432T>C c.(430-432)atT>atC p.I144I AXIN2_ENST00000307078.5_Silent_p.I144I|CTD-2535L24.2_ENST00000577662.1_3'UTR Q9Y2T1 AXIN2_HUMAN axin 2 144 RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}. NA bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244) beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCTTGGAGACAATGCTGTTGT 0.468 NA Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome A||| 394 0.0786741 0.0703 0.1297 5008 , , NA 17073 0.1399 NA 0.0089 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 A 333,4073 174.8+/-204.3 13,307,1883 309 266 280 432 -2 1 17 dbSNP_98 280 36,8564 25.1+/-72.6 0,36,4264 no coding-synonymous AXIN2 NM_004655.3 13,343,6147 GG,GA,AA 0.4186,7.5579,2.8372 144/844 63554307 369,12637 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome AF078165 CCDS11662.1 17q24.1 2014-09-17 2008-08-01 ENSG00000168646 8313 904 protein-coding gene gene with protein product conductin, axil 604025 NA 10049590 Standard NM_004655 NM_004655 NA Approved MGC126582, DKFZp781B0869 uc002jfi.3 Q9Y2T1 OTTHUMG00000179353 ENST00000375702.5:c.432T>C chr17.hg19:g.63554307A>G NA Q3MJ88|Q9H3M6|Q9UH84 hg19 0.02 15.929429 GACxATG COVERED NOVEL AXIN2-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000445901.1 5 37.911446 KEEP 0 0 0 126 3901 AA 1 1 0 - 19 60 644 0 0 40.982595 367 60 13325 606 ENST00000375702.5 0.049223 1 CEP112 201134 __UNKNOWN__ __UNKNOWN__ 17 63639762 63639762 __UNKNOWN__ Intron SNP A A G rs7211088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:63639762A>G ENST00000392769.2 - 25 2916 CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Intron|CEP112_ENST00000317442.8_Intron|CEP112_ENST00000537949.1_Intron NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa NA NA receptor localization to synapse (GO:0097120) centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 GTGGAGCGTTAGCAACAGGTT 0.537 NA G||| 1037 0.207069 0.1362 0.2205 5008 , , NA 18639 0.4851 NA 0.1004 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF458591 CCDS32710.1, CCDS32711.1 17q24.2 2014-02-20 2011-05-06 2011-05-06 ENSG00000154240 ENSG00000154240 201134 28514 protein-coding gene gene with protein product coiled-coil domain containing 46 CCDC46 NA 21399614 Standard NM_145036 NM_145036 NA Approved MGC33887 uc002jfl.3 Q8N8E3 ENST00000392769.2:c.2698-2579T>C chr17.hg19:g.63639762A>G NA Q6PIB5|Q8NCR4|Q8NFR4 hg19 CCDS32710.1 0.02 -0.296907 GTTxGCA COVERED NOVEL CEP112-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446582.1 0 3.911784 KEEP 0 0 0 13 403 AA 0.994391 0.776679 0 - 3 60 102 0 0 7.233747 31 60 1090 58 ENST00000392769.2 0.088235 0.78106 CEP112 201134 __UNKNOWN__ __UNKNOWN__ 17 63957694 63957694 __UNKNOWN__ Missense_Mutation SNP G G C rs77905043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:63957694G>C ENST00000392769.2 - 18 1977 c.1759C>G c.(1759-1761)Cgt>Ggt p.R587G CEP112_ENST00000541355.1_Missense_Mutation_p.R222G|CEP112_ENST00000535342.2_Missense_Mutation_p.R587G|CEP112_ENST00000537949.1_Missense_Mutation_p.R545G NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 587 NA receptor localization to synapse (GO:0097120) centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 TCAGTCACACGAGTTAGCTGC 0.458 NA G||| 49 0.00978435 0.0 0.0 5008 , , NA 16566 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 80 79 79 NA NA 17 NA 63957694 2203 4300 6503 SO:0001583 missense AF458591 CCDS32710.1, CCDS32711.1 17q24.2 2014-02-20 2011-05-06 2011-05-06 ENSG00000154240 ENSG00000154240 201134 28514 protein-coding gene gene with protein product coiled-coil domain containing 46 CCDC46 NA 21399614 Standard NM_145036 NM_145036 NA Approved MGC33887 uc002jfl.3 Q8N8E3 ENST00000392769.2:c.1759C>G chr17.hg19:g.63957694G>C ENSP00000376522:p.Arg587Gly NA Q6PIB5|Q8NCR4|Q8NFR4 hg19 CCDS32710.1 0.02 2.282101 CACxAGT COVERED 28 0.01282051282051282 0 0.0 0 0.0 28 0.04895104895104895 0 0.0 G 14.93 2.682606 0.47991 . . ENSG00000154240 ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949 T;T;T;T 0.19250 2.16;2.16;2.16;2.16 5.34 4.36 0.52297 . 0.130064 0.51477 D 0.000100 T 0.07908 0.0198 L 0.60455 1.87 0.35290 D 0.782155 D;P;D 0.61697 0.98;0.946;0.99 P;P;P 0.57960 0.736;0.736;0.83 T 0.31052 -0.9957 10 0.48119 T 0.1 -9.5189 15.5959 0.76578 0.0:0.0:0.8617:0.1383 . 545;545;587 F5GYE8;A2RRR7;Q8N8E3 .;.;CE112_HUMAN G 587;587;222;545 ENSP00000442784:R587G;ENSP00000376522:R587G;ENSP00000443711:R222G;ENSP00000440775:R545G ENSP00000376522:R587G R - 1 0 CEP112 61388156 0.999000 0.42202 0.765000 0.31456 0.969000 0.65631 3.550000 0.53691 1.224000 0.43551 0.591000 0.81541 CGT NOVEL CEP112-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446582.1 0 5.116196 KEEP 0 0 0 17 567 GG 0.999366 0.995602 0 - 4 60 150 0 0 10.277246 65 60 2414 98 ENST00000392769.2 0.057971 0.996233 APOH 350 __UNKNOWN__ __UNKNOWN__ 17 64208285 64208285 __UNKNOWN__ Missense_Mutation SNP C C G rs1801690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:64208285C>G ENST00000205948.6 - 8 1041 c.1004G>C c.(1003-1005)tGg>tCg p.W335S NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 335 Sushi-like. NA W -> S (in allele APOH*3W; loss of phosphatidylserine-binding; dbSNP:rs1801690). {ECO:0000269|PubMed:9063752, ECO:0000269|Ref.8}. blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197) cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361) glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) ATCAGTTTTCCAAAAAGCCAG 0.368 NA C||| 183 0.0365415 0.0023 0.0288 5008 , , NA 17997 0.0546 NA 0.0567 False NA ,,, NA NA NA 2504 0.0491 NA NA NA Melanoma(155;624 1882 16869 48804 51309) NA 0 GRCh37 CM970095 APOH M rs1801690 C SER/TRP 38,4368 42.3+/-75.8 2,34,2167 97 98 98 1004 5.7 1 17 dbSNP_89 98 441,8159 133.8+/-191.2 10,421,3869 yes missense APOH NM_000042.2 177 12,455,6036 GG,GC,CC 5.1279,0.8625,3.6829 possibly-damaging 335/346 64208285 479,12527 2203 4300 6503 SO:0001583 missense CCDS11663.1 17q24.2 2013-01-24 ENSG00000091583 350 Apolipoproteins 616 protein-coding gene gene with protein product beta-2-glycoprotein I 138700 B2G1 NA 1582254 Standard NM_000042 NM_000042 NA Approved BG uc002jfn.4 P02749 ENST00000205948.6:c.1004G>C chr17.hg19:g.64208285C>G ENSP00000205948:p.Trp335Ser NA B2R9M3|Q9UCN7 hg19 CCDS11663.1 0.02 8.302671 TTCxAAA COVERED 98 0.04487179487179487 1 0.0020325203252032522 13 0.03591160220994475 38 0.06643356643356643 46 0.06068601583113457 c 17.13 3.310302 0.60414 0.008625 0.051279 ENSG00000091583 ENST00000205948 T 0.22336 1.96 5.7 5.7 0.88788 Complement control module (2);Beta-2-glycoprotein-1 fifth domain (2); 0.362482 0.30151 N 0.010297 T 0.04679 0.0127 M 0.75447 2.3 0.09310 P 0.99999727626 D 0.76494 0.999 D 0.67900 0.954 T 0.02933 -1.1092 9 0.17832 T 0.49 . 15.3453 0.74330 0.0:1.0:0.0:0.0 rs1801690;rs8178862;rs17763527;rs1801690 335 P02749 APOH_HUMAN S 335 ENSP00000205948:W335S ENSP00000205948:W335S W - 2 0 APOH 61638747 1.000000 0.71417 1.000000 0.80357 0.667000 0.39255 3.506000 0.53364 2.679000 0.91253 0.555000 0.69702 TGG NOVEL APOH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446926.1 2 12.641714 KEEP 0 0 0 42 1524 CC 1 1 0 - 11 60 396 0 0 25.363777 234 60 8959 364 ENST00000205948.6 0.044898 1 APOH 350 __UNKNOWN__ __UNKNOWN__ 17 64216815 64216815 __UNKNOWN__ Missense_Mutation SNP C C T rs8178847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:64216815C>T ENST00000205948.6 - 5 498 c.461G>A c.(460-462)cGt>cAt p.R154H NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 154 Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA R -> H (in dbSNP:rs8178847). {ECO:0000269|Ref.8}. blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197) cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361) glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CTTATAAACACGAAGTGTTGC 0.383 NA c||| 352 0.0702875 0.115 0.0418 5008 , , NA 19173 0.0516 NA 0.0696 False NA ,,, NA NA NA 2504 0.0501 NA NA NA Melanoma(155;624 1882 16869 48804 51309) NA 0 T HIS/ARG 397,4009 790.4+/-415.0 17,363,1823 116 113 114 461 1.6 0 17 dbSNP_117 114 560,8040 794.3+/-407.5 17,526,3757 yes missense APOH NM_000042.2 29 34,889,5580 TT,TC,CC 6.5116,9.0104,7.3581 benign 154/346 64216815 957,12049 2203 4300 6503 SO:0001583 missense CCDS11663.1 17q24.2 2013-01-24 ENSG00000091583 350 Apolipoproteins 616 protein-coding gene gene with protein product beta-2-glycoprotein I 138700 B2G1 NA 1582254 Standard NM_000042 NM_000042 NA Approved BG uc002jfn.4 P02749 ENST00000205948.6:c.461G>A chr17.hg19:g.64216815C>T ENSP00000205948:p.Arg154His NA B2R9M3|Q9UCN7 hg19 CCDS11663.1 0.02 8.593071 ACAxGAA COVERED 167 0.07646520146520147 62 0.12601626016260162 16 0.04419889502762431 35 0.06118881118881119 54 0.0712401055408971 t 3.786 -0.044700 0.07452 0.090104 0.065116 ENSG00000091583 ENST00000205948 T 0.63417 -0.04 5.42 1.59 0.23543 Complement control module (2);Sushi/SCR/CCP (3); 1.273270 0.04813 N 0.435553 T 0.00356 0.0011 N 0.08118 0 0.80722 P 0.0 P 0.40731 0.728 B 0.25884 0.064 T 0.03008 -1.1083 9 0.33141 T 0.24 . 4.8598 0.13577 0.0:0.3473:0.2571:0.3956 rs8178847;rs61420267;rs8178847 154 P02749 APOH_HUMAN H 154 ENSP00000205948:R154H ENSP00000205948:R154H R - 2 0 APOH 61647277 0.000000 0.05858 0.000000 0.03702 0.150000 0.21749 0.005000 0.13129 0.492000 0.27815 -0.213000 0.12676 CGT NOVEL APOH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446926.1 1 7.522722 KEEP 0 0 0 25 841 CC 0.999931 0.999931 0 - 15 60 534 0 0 36.063719 230 60 7886 324 ENST00000205948.6 0.061224 1 APOH 350 __UNKNOWN__ __UNKNOWN__ 17 64216854 64216854 __UNKNOWN__ Missense_Mutation SNP A A G rs52797880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:64216854A>G ENST00000205948.6 - 5 459 c.422T>C c.(421-423)aTc>aCc p.I141T NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 141 Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}. NA blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197) cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361) glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TGGAGGGCAGATGATGGCTGG 0.368 NA G||| 352 0.0702875 0.115 0.0418 5008 , , NA 18261 0.0516 NA 0.0696 False NA ,,, NA NA NA 2504 0.0501 NA NA NA Melanoma(155;624 1882 16869 48804 51309) NA 0 G THR/ILE 397,4009 17,363,1823 85 85 85 422 3.4 0.1 17 dbSNP_128 85 560,8040 17,526,3757 yes missense APOH NM_000042.2 89 34,889,5580 GG,GA,AA 6.5116,9.0104,7.3581 benign 141/346 64216854 957,12049 2203 4300 6503 SO:0001583 missense CCDS11663.1 17q24.2 2013-01-24 ENSG00000091583 350 Apolipoproteins 616 protein-coding gene gene with protein product beta-2-glycoprotein I 138700 B2G1 NA 1582254 Standard NM_000042 NM_000042 NA Approved BG uc002jfn.4 P02749 ENST00000205948.6:c.422T>C chr17.hg19:g.64216854A>G ENSP00000205948:p.Ile141Thr NA B2R9M3|Q9UCN7 hg19 CCDS11663.1 0.02 6.484244 CAGxTGA COVERED 167 0.07646520146520147 62 0.12601626016260162 16 0.04419889502762431 35 0.06118881118881119 54 0.0712401055408971 N 1.071 -0.670004 0.03403 0.090104 0.065116 ENSG00000091583 ENST00000205948 T 0.22743 1.94 5.4 3.37 0.38596 Complement control module (1);Sushi/SCR/CCP (1); 0.221461 0.46145 N 0.000314 T 0.00039 0.0001 N 0.00223 -1.815 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.34179 -0.9839 9 0.02654 T 1 . 5.9326 0.19148 0.1474:0.0:0.5803:0.2723 rs52797880 141 P02749 APOH_HUMAN T 141 ENSP00000205948:I141T ENSP00000205948:I141T I - 2 0 APOH 61647316 1.000000 0.71417 0.060000 0.19600 0.045000 0.14185 1.743000 0.38258 0.253000 0.21552 -0.229000 0.12294 ATC NOVEL APOH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446926.1 1 3.008763 KEEP 0 0 0 10 303 AA 0.992708 0.992708 0 - 9 60 332 0 0 22.003387 170 60 6217 207 ENST00000205948.6 0.050279 1 APOH 350 __UNKNOWN__ __UNKNOWN__ 17 64225529 64225529 __UNKNOWN__ 5'UTR SNP G G T rs8178822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:64225529G>T ENST00000205948.6 - 0 6 NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) NA NA blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197) cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361) glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CTACCAAAGTGGTTTTCGTCT 0.388 NA OREG0000089 type=REGULATORY POLYMORPHISM|Gene=APOH|TFbs=TFIID|EvidenceSubtype=Direct gel shift; Transient transfection luciferase assay G||| 316 0.063099 0.0885 0.0403 5008 , , NA 18335 0.0516 NA 0.0696 False NA ,,, NA NA NA 2504 0.0501 NA NA NA Melanoma(155;624 1882 16869 48804 51309) NA 0 GRCh37 CR033517 APOH R rs8178822 G 300,4106 158.5+/-191.2 12,276,1915 49 45 46 3.5 0 17 dbSNP_117 46 561,8039 148.2+/-203.4 17,527,3756 no utr-5 APOH NM_000042.2 29,803,5671 TT,TG,GG 6.5233,6.8089,6.62 64225529 861,12145 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS11663.1 17q24.2 2013-01-24 ENSG00000091583 350 Apolipoproteins 616 protein-coding gene gene with protein product beta-2-glycoprotein I 138700 B2G1 NA 1582254 Standard NM_000042 NM_000042 NA Approved BG uc002jfn.4 P02749 ENST00000205948.6:c.-32C>A chr17.hg19:g.64225529G>T 1075 B2R9M3|Q9UCN7 hg19 CCDS11663.1 0.02 16.558753 AGTxGTT COVERED NOVEL APOH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446926.1 1 14.446485 KEEP 0 0 0 48 1686 GG 1 1 0 - 21 60 796 0 0 54.610879 349 60 12938 513 ENST00000205948.6 0.056757 1 PRKCA 5578 __UNKNOWN__ __UNKNOWN__ 17 64795053 64795053 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:64795053G>A ENST00000413366.3 + 17 1880 NM_002737.2 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha NA NA activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163) ggtggtggtggtggtggtggt 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11664.1 17q22-q24 2009-07-10 ENSG00000154229 5578 2.7.11.1 9393 protein-coding gene gene with protein product 176960 PKCA NA Standard NM_002737 NA Approved uc002jfp.1 P17252 ENST00000413366.3:c.1855-4938G>A chr17.hg19:g.64795053G>A NA B5BU22|Q15137|Q32M72|Q96RE4 hg19 CCDS11664.1 0.02 -0.157903 GTGxTGG UNCOVERED NOVEL PRKCA-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446976.1 2 2.926724 KEEP 33 1 26 19 623 GG 0 0 0 + 4 22 127 0 1 11.476341 7 25 264 85 ENST00000413366.3 0.363636 0.353947 CACNG4 27092 __UNKNOWN__ __UNKNOWN__ 17 65027740 65027740 __UNKNOWN__ 3'UTR SNP G G C rs740555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:65027740G>C ENST00000262138.3 + 0 1606 AC005544.1_ENST00000375684.1_Missense_Mutation_p.G65R NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 NA NA membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) voltage-gated calcium channel activity (GO:0005245) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) CGCTGTCCCGGGGCCAGCTTC 0.602 NA G||| 1752 0.34984 0.0681 0.3228 5008 , , NA 18254 0.6954 NA 0.3221 False NA ,,, NA NA NA 2504 0.4223 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AH008289 CCDS11667.1 17q24 2006-01-23 ENSG00000075461 27092 Calcium channel subunits 1408 protein-coding gene gene with protein product 606404 NA 10613843 Standard NM_014405 NM_014405 NA Approved MGC11138, MGC24983 uc002jft.2 Q9UBN1 ENST00000262138.3:c.*620G>C chr17.hg19:g.65027740G>C NA B2RCK0 hg19 CCDS11667.1 0.02 15.840189 CCGxGGC COVERED 777 0.3557692307692308 34 0.06910569105691057 120 0.3314917127071823 391 0.6835664335664335 232 0.30606860158311344 G 3.099 -0.185196 0.06340 . . ENSG00000214167 ENST00000375684 . . . 3.96 0.808 0.18719 . . . . . T 0.00012 0.0000 . . . 0.46096 P 0.0011379999999999724 . . . . . . T 0.37454 -0.9705 4 0.87932 D 0 . 3.6359 0.08148 0.2334:0.2114:0.5552:0.0 rs740555;rs740555 . . . R 65 . ENSP00000364836:G65R G + 1 0 AC005544.1 62458202 0.110000 0.22057 0.295000 0.24960 0.242000 0.25591 -0.106000 0.10890 0.404000 0.25506 -0.136000 0.14681 GGG NOVEL CACNG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447036.1 1 10.534218 KEEP 0 0 0 35 1233 GG 0.999999 0.999999 0 + 19 60 665 0 0 43.238361 343 60 12467 439 ENST00000262138.3 0.052486 1 HELZ 9931 __UNKNOWN__ __UNKNOWN__ 17 65157277 65157277 __UNKNOWN__ Intron SNP A A T rs2287127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:65157277A>T ENST00000358691.5 - 16 2062 HELZ_ENST00000580168.1_Intron NM_014877.3 NP_055692 P42694 HELZ_HUMAN helicase with zinc finger NA NA membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ATTTCAGTGAACCATTAAAAC 0.308 NA A||| 2012 0.401757 0.1415 0.4236 5008 , , NA 20732 0.6845 NA 0.3171 False NA ,,, NA NA NA 2504 0.5337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D29677 CCDS42374.1 17q24.2 2013-01-18 ENSG00000198265 ENSG00000198265 9931 Zinc fingers, CCCH-type domain containing 16878 protein-coding gene gene with protein product down-regulated in human cancers 606699 NA 10471385, 12691822 Standard NM_014877 NM_014877 NA Approved KIAA0054, HUMORF5, DHRC uc002jfx.4 P42694 OTTHUMG00000179555 ENST00000358691.5:c.1896-85T>A chr17.hg19:g.65157277A>T NA I6L9H4 hg19 CCDS42374.1 0.02 1.947618 TGAxCCA COVERED NOVEL HELZ-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000447068.1 1 2.405187 KEEP 0 0 0 8 220 AA 0.99257 0.990484 0 - 5 60 174 0 0 11.872314 68 60 2353 81 ENST00000358691.5 0.068493 0.997898 NOL11 25926 __UNKNOWN__ __UNKNOWN__ 17 65717525 65717525 __UNKNOWN__ Missense_Mutation SNP T T C rs2291284 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:65717525T>C ENST00000253247.4 + 4 459 c.344T>C c.(343-345)gTg>gCg p.V115A NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 115 NA V -> A (in dbSNP:rs2291284). {ECO:0000269|PubMed:17974005}. maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|t-UTP complex (GO:0034455) poly(A) RNA binding (GO:0044822) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) ATACTTTCAGTGCAAGGGACA 0.368 NA T||| 314 0.0626997 0.0 0.0576 5008 , , NA 15071 0.2411 NA 0.0 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 T ALA/VAL 13,4393 21.2+/-45.6 0,13,2190 102 100 101 344 4.2 0.9 17 dbSNP_100 101 6,8594 5.0+/-18.6 0,6,4294 yes missense NOL11 NM_015462.3 64 0,19,6484 CC,CT,TT 0.0698,0.2951,0.1461 benign 115/720 65717525 19,12987 2203 4300 6503 SO:0001583 missense AK023702 CCDS11671.1 17q24.2 2005-08-08 25926 24557 protein-coding gene gene with protein product 615366 NA 12477932 Standard NM_015462 NM_015462 NA Approved DKFZP586L0724 uc002jgd.1 Q9H8H0 ENST00000253247.4:c.344T>C chr17.hg19:g.65717525T>C ENSP00000253247:p.Val115Ala NA B7Z5V9|Q7L5S1|Q9UG18 hg19 CCDS11671.1 0.02 4.00926 CAGxGCA COVERED 171 0.0782967032967033 0 0.0 17 0.04696132596685083 154 0.2692307692307692 0 0.0 T 9.648 1.140701 0.21205 0.002951 6.98E-4 ENSG00000130935 ENST00000253247 T 0.21191 2.02 5.28 4.19 0.49359 . 0.781238 0.12829 N 0.435747 T 0.00012 0.0000 L 0.31664 0.95 0.46376 P 9.829999999999561E-4 B 0.27791 0.189 B 0.25140 0.058 T 0.42464 -0.9450 9 0.26408 T 0.33 -4.1594 8.9548 0.35812 0.0:0.0868:0.0:0.9132 rs2291284;rs52823609;rs2291284 115 Q9H8H0 NOL11_HUMAN A 115 ENSP00000253247:V115A ENSP00000253247:V115A V + 2 0 NOL11 63147987 0.068000 0.21057 0.889000 0.34880 0.799000 0.45148 2.552000 0.45828 0.952000 0.37798 0.459000 0.35465 GTG NOVEL NOL11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448074.1 1 8.120301 KEEP 0 0 0 27 785 TT 0.999988 0.999987 0 + 5 60 185 0 0 11.634881 128 60 4467 181 ENST00000253247.4 0.037594 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 66121807 66121807 __UNKNOWN__ IGR SNP C C T rs1964244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:66121807C>T NA NA LINC00674 (10148 upstream) : LRRC37A16P (4583 downstream) NA NA NA CAGCCTTAAACGACTGAAGAA 0.393 NA C||| 1287 0.256989 0.1445 0.1182 5008 , , NA 18318 0.6171 NA 0.1819 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.66121807C>T NA hg19 0.02 11.745254 AAAxGAC COVERED NOVEL 0 3 16.252253 KEEP 0 0 0 54 1862 CC 1 1 0 16 60 591 0 0 40.920988 234 60 8468 386 0.064 1 LRRC37A16P 651250 __UNKNOWN__ __UNKNOWN__ 17 66131095 66131095 __UNKNOWN__ RNA SNP T T C rs1873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:66131095T>C ENST00000590019.1 - 0 298 leucine rich repeat containing 37, member A16, pseudogene NA NA NA GCTGCGCCTCTGCCAAGGCCG 0.612 NA C||| 1681 0.335663 0.4198 0.147 5008 , , NA 17529 0.627 NA 0.1809 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 17q24.2 2012-10-18 ENSG00000267023 651250 43820 pseudogene pseudogene NA Standard NG_023507 NA Approved OTTHUMG00000180160 ENST00000590019.1: chr17.hg19:g.66131095T>C NA hg19 0.02 2.096709 CTCxGCC COVERED NOVEL LRRC37A16P-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000450078.1 1 2.707493 KEEP 0 0 0 9 268 TT 0.99254 0.972219 0 - 5 60 162 0 0 11.273687 51 60 1876 77 ENST00000590019.1 0.089286 0.979526 FAM20A 54757 __UNKNOWN__ __UNKNOWN__ 17 66596463 66596463 __UNKNOWN__ Silent SNP C C T rs986099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:66596463C>T ENST00000592554.1 - 1 1067 c.345G>A c.(343-345)tcG>tcA p.S115S NM_001243746.1|NM_017565.3 NP_001230675.1|NP_060035.2 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 115 NA calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691) cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) TGGCCAGGAGCGAGTCCTCGG 0.716 NA c||| 849 0.169529 0.0961 0.2522 5008 , , NA 12777 0.2748 NA 0.163 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 375,3867 18,339,1764 5 8 7 345 1.2 1 17 dbSNP_86 7 1255,7133 85,1085,3024 no coding-synonymous FAM20A NM_017565.3 103,1424,4788 TT,TC,CC 14.9619,8.8402,12.9058 115/542 66596463 1630,11000 2121 4194 6315 SO:0001819 synonymous_variant AK056789 CCDS11679.1 17q24.2 2014-02-07 ENSG00000108950 ENSG00000108950 54757 23015 protein-coding gene gene with protein product 611062 NA Standard NM_017565 NM_017565 NA Approved DKFZp434F2322 uc002jho.3 Q96MK3 OTTHUMG00000180152 ENST00000592554.1:c.345G>A chr17.hg19:g.66596463C>T NA B2RN47|B2RN49|Q9UF95 hg19 CCDS11679.1 0.02 11.949806 GAGxGAG COVERED NOVEL FAM20A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450029.2 3 48.87105 KEEP 0 1 30 173 5985 CC 1 1 0 - 18 60 594 1 0 38.350622 286 60 10238 618 ENST00000592554.1 0.059211 1 ABCA6 23460 __UNKNOWN__ __UNKNOWN__ 17 67085508 67085508 __UNKNOWN__ Intron SNP A A G rs12602396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67085508A>G ENST00000284425.2 - 27 3781 ABCA6_ENST00000446604.2_Intron NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCATATAAAAACACTTTCAA 0.343 NA A||| 286 0.0571086 0.0393 0.1369 5008 , , NA 17932 0.1161 NA 0.006 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U66680 CCDS11683.1 17q21 2012-03-14 ENSG00000154262 ENSG00000154262 23460 ATP binding cassette transporters / subfamily A 36 protein-coding gene gene with protein product 612504 NA 8894702 Standard NM_080284 NM_080284 NA Approved EST155051 uc002jhw.1 Q8N139 ENST00000284425.2:c.3606+97T>C chr17.hg19:g.67085508A>G NA Q6NSH9|Q8N856|Q8WWZ6 hg19 CCDS11683.1 0.02 4.520482 AAAxACA COVERED NOVEL ABCA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450463.1 3 5.41685 KEEP 0 0 0 18 595 AA 0.999859 0.999859 0 - 11 60 417 0 0 30.109491 132 60 4714 171 ENST00000284425.2 0.076923 1 ABCA6 23460 __UNKNOWN__ __UNKNOWN__ 17 67108362 67108362 __UNKNOWN__ Missense_Mutation SNP C C G rs9282553 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67108362C>G ENST00000284425.2 - 16 2268 c.2094G>C c.(2092-2094)atG>atC p.M698I NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 698 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA M -> I (in dbSNP:rs9282553). transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) p.M698I(1) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTTTCAAAAACATAGAAGAAC 0.378 NA G||| 1040 0.207668 0.4826 0.2089 5008 , , NA 19606 0.12 NA 0.0646 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ILE/MET 1789,2617 640.9+/-397.4 354,1081,768 158 166 164 2094 -1.6 0.2 17 dbSNP_118 164 460,8140 798.3+/-407.4 12,436,3852 yes missense ABCA6 NM_080284.2 10 366,1517,4620 GG,GC,CC 5.3488,40.6037,17.292 benign 698/1618 67108362 2249,10757 2203 4300 6503 SO:0001583 missense U66680 CCDS11683.1 17q21 2012-03-14 ENSG00000154262 ENSG00000154262 23460 ATP binding cassette transporters / subfamily A 36 protein-coding gene gene with protein product 612504 NA 8894702 Standard NM_080284 NM_080284 NA Approved EST155051 uc002jhw.1 Q8N139 ENST00000284425.2:c.2094G>C chr17.hg19:g.67108362C>G ENSP00000284425:p.Met698Ile NA Q6NSH9|Q8N856|Q8WWZ6 hg19 CCDS11683.1 0.02 7.494924 AAAxATA COVERED 421 0.19276556776556777 228 0.4634146341463415 71 0.19613259668508287 73 0.12762237762237763 49 0.06464379947229551 G 6.648 0.488107 0.12641 0.406037 0.053488 ENSG00000154262 ENST00000284425 T 0.58060 0.36 4.65 -1.59 0.08453 ABC transporter-like (1); 0.882076 0.09484 N 0.795984 T 0.00012 0.0000 N 0.10916 0.065 0.09310 P 0.99999999786943 B 0.02656 0.0 B 0.01281 0.0 T 0.45323 -0.9269 9 0.40728 T 0.16 . 5.1909 0.15209 0.147:0.4432:0.3114:0.0984 rs9282553;rs9909703;rs52824711;rs9282553 698 Q8N139 ABCA6_HUMAN I 698 ENSP00000284425:M698I ENSP00000284425:M698I M - 3 0 ABCA6 64619957 0.012000 0.17670 0.197000 0.23402 0.348000 0.29142 -0.902000 0.04088 -0.224000 0.09928 -0.736000 0.03550 ATG NOVEL ABCA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450463.1 2 15.650077 KEEP 0 0 0 52 1863 CC 1 1 0 - 11 60 435 0 0 30.504346 179 60 6842 314 ENST00000284425.2 0.057895 1 ABCA6 23460 __UNKNOWN__ __UNKNOWN__ 17 67109833 67109833 __UNKNOWN__ Missense_Mutation SNP T T A rs9282554 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67109833T>A ENST00000284425.2 - 14 2002 c.1828A>T c.(1828-1830)Aac>Tac p.N610Y NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 610 ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA N -> Y (in dbSNP:rs9282554). transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) p.N610Y(1) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTAGCAAGGTTATCTTGAATG 0.338 NA T||| 468 0.0934505 0.0719 0.17 5008 , , NA 20897 0.12 NA 0.0636 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T TYR/ASN 301,4105 164.7+/-196.3 11,279,1913 139 124 129 1828 -0.5 0 17 dbSNP_118 129 450,8150 134.6+/-191.9 12,426,3862 yes missense ABCA6 NM_080284.2 143 23,705,5775 AA,AT,TT 5.2326,6.8316,5.7743 benign 610/1618 67109833 751,12255 2203 4300 6503 SO:0001583 missense U66680 CCDS11683.1 17q21 2012-03-14 ENSG00000154262 ENSG00000154262 23460 ATP binding cassette transporters / subfamily A 36 protein-coding gene gene with protein product 612504 NA 8894702 Standard NM_080284 NM_080284 NA Approved EST155051 uc002jhw.1 Q8N139 ENST00000284425.2:c.1828A>T chr17.hg19:g.67109833T>A ENSP00000284425:p.Asn610Tyr NA Q6NSH9|Q8N856|Q8WWZ6 hg19 CCDS11683.1 0.02 7.98606 GGTxATC COVERED 222 0.10164835164835165 43 0.08739837398373984 58 0.16022099447513813 73 0.12762237762237763 48 0.0633245382585752 T 7.745 0.702102 0.15172 0.068316 0.052326 ENSG00000154262 ENST00000284425 D 0.94046 -3.34 4.96 -0.508 0.11980 ATPase, AAA+ type, core (1);ABC transporter-like (2); 1.157300 0.06296 N 0.700062 T 0.03739 0.0106 L 0.35644 1.08 0.80722 P 0.0 B 0.28783 0.222 B 0.42593 0.392 T 0.62407 -0.6861 9 0.52906 T 0.07 . 5.6594 0.17660 0.0:0.514:0.1879:0.2981 rs9282554;rs60607861;rs9282554 610 Q8N139 ABCA6_HUMAN Y 610 ENSP00000284425:N610Y ENSP00000284425:N610Y N - 1 0 ABCA6 64621428 0.000000 0.05858 0.012000 0.15200 0.185000 0.23345 -0.111000 0.10807 0.010000 0.14839 0.477000 0.44152 AAC NOVEL ABCA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450463.1 0 13.842313 KEEP 0 0 0 46 1463 TT 1 1 0 - 12 60 420 0 0 27.68494 201 60 7283 333 ENST00000284425.2 0.056338 1 ABCA10 10349 __UNKNOWN__ __UNKNOWN__ 17 67149557 67149557 __UNKNOWN__ Intron SNP A A T rs12601012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67149557A>T ENST00000269081.4 - 35 4951 ABCA10_ENST00000416101.2_Intron|ABCA10_ENST00000519732.1_Intron NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 NA NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TGCAAGGAACAGCCCGTCGGC 0.572 NA A||| 441 0.0880591 0.0711 0.1686 5008 , , NA 14896 0.1111 NA 0.0656 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 A 325,4081 173.0+/-202.9 12,301,1890 103 105 104 0.4 0 17 dbSNP_120 104 456,8144 135.9+/-193.0 13,430,3857 no intron ABCA10 NM_080282.3 25,731,5747 TT,TA,AA 5.3023,7.3763,6.0049 67149557 781,12225 2203 4300 6503 SO:0001627 intron_variant AY247065 CCDS11684.1 17q24 2012-03-14 ENSG00000154263 ENSG00000154263 10349 ATP binding cassette transporters / subfamily A 30 protein-coding gene gene with protein product 612508 NA 12821155, 11435397 Standard NM_080282 NM_080282 NA Approved EST698739 uc010dfa.1 Q8WWZ4 OTTHUMG00000164716 ENST00000269081.4:c.4042-17T>A chr17.hg19:g.67149557A>T NA C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2 hg19 CCDS11684.1 0.02 8.878501 AACxGCC COVERED NOVEL ABCA10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379881.4 0 26.775884 KEEP 0 0 0 89 2772 AA 1 1 0 - 15 60 554 0 0 38.634611 210 60 7779 416 ENST00000269081.4 0.066667 1 ABCA10 10349 __UNKNOWN__ __UNKNOWN__ 17 67150118 67150118 __UNKNOWN__ Silent SNP C C T rs16973656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67150118C>T ENST00000269081.4 - 33 4728 c.3819G>A c.(3817-3819)agG>agA p.R1273R ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1273 ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}. NA transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) p.R1273R(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CATGCTGTTGCCTTACTGATG 0.478 NA C||| 440 0.0878594 0.0711 0.1686 5008 , , NA 15570 0.1111 NA 0.0656 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 325,4081 172.3+/-202.3 12,301,1890 116 95 102 3819 1.1 0 17 dbSNP_123 102 456,8144 135.7+/-192.9 13,430,3857 no coding-synonymous ABCA10 NM_080282.3 25,731,5747 TT,TC,CC 5.3023,7.3763,6.0049 1273/1544 67150118 781,12225 2203 4300 6503 SO:0001819 synonymous_variant AY247065 CCDS11684.1 17q24 2012-03-14 ENSG00000154263 ENSG00000154263 10349 ATP binding cassette transporters / subfamily A 30 protein-coding gene gene with protein product 612508 NA 12821155, 11435397 Standard NM_080282 NM_080282 NA Approved EST698739 uc010dfa.1 Q8WWZ4 OTTHUMG00000164716 ENST00000269081.4:c.3819G>A chr17.hg19:g.67150118C>T NA C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2 hg19 CCDS11684.1 0.02 6.469885 TTGxCTT COVERED NOVEL ABCA10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379881.4 2 18.660187 KEEP 0 0 0 62 2212 CC 1 1 0 - 9 60 342 0 0 22.700343 184 60 6829 325 ENST00000269081.4 0.046632 1 ABCA5 23461 __UNKNOWN__ __UNKNOWN__ 17 67252275 67252275 __UNKNOWN__ Intron SNP C C T rs80160851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67252275C>T ENST00000392676.3 - 29 3923 ABCA5_ENST00000392677.2_Intron|ABCA5_ENST00000588877.1_Intron Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 NA NA cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) Tacrolimus(DB00864) TTTACTATGACTTAGCCATAA 0.323 NA C||| 353 0.0704872 0.084 0.0447 5008 , , NA 12897 0.0526 NA 0.0885 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 C , 398,4008 195.7+/-220.2 21,356,1826 127 128 128 , -0.2 0 17 dbSNP_132 128 783,7817 182.5+/-230.9 33,717,3550 no intron,intron ABCA5 NM_018672.3,NM_172232.2 , 54,1073,5376 TT,TC,CC 9.1047,9.0331,9.0804 , , 67252275 1181,11825 2203 4300 6503 SO:0001627 intron_variant U66672 CCDS11685.1 17q24.3 2012-03-14 ENSG00000154265 ENSG00000154265 23461 ATP binding cassette transporters / subfamily A 35 protein-coding gene gene with protein product 612503 NA 8894702 Standard NM_018672 NM_172232 NA Approved EST90625 uc002jig.2 Q8WWZ7 ENST00000392676.3:c.3858+22G>A chr17.hg19:g.67252275C>T NA Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14 hg19 CCDS11685.1 0.02 10.289475 TGAxTTA COVERED NOVEL ABCA5-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000450654.1 3 14.447221 KEEP 0 0 0 48 1730 CC 1 1 0 - 10 60 359 0 0 22.138736 258 60 9799 374 ENST00000392676.3 0.037313 1 ABCA5 23461 __UNKNOWN__ __UNKNOWN__ 17 67267317 67267317 __UNKNOWN__ Missense_Mutation SNP T T C rs557491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67267317T>C ENST00000392676.3 - 21 2942 c.2878A>G c.(2878-2880)Atg>Gtg p.M960V ABCA5_ENST00000392677.2_Missense_Mutation_p.M961V|ABCA5_ENST00000588877.1_Missense_Mutation_p.M960V Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 960 NA M -> V (in dbSNP:rs557491). {ECO:0000269|PubMed:11572484}. cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764) ATP binding (GO:0005524)|ATPase activity (GO:0016887) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) Tacrolimus(DB00864) TCTGAATGCATCACATTTAAA 0.348 NA T||| 2491 0.497404 0.4327 0.5893 5008 , , NA 16231 0.6002 NA 0.4404 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 T VAL/MET,VAL/MET 1989,2417 557.9+/-379.9 441,1107,655 106 92 97 2878,2878 2 0.9 17 dbSNP_83 97 3967,4633 551.1+/-385.9 897,2173,1230 yes missense,missense ABCA5 NM_018672.3,NM_172232.2 21,21 1338,3280,1885 CC,CT,TT 46.1279,45.143,45.7942 benign,benign 960/1643,960/1643 67267317 5956,7050 2203 4300 6503 SO:0001583 missense U66672 CCDS11685.1 17q24.3 2012-03-14 ENSG00000154265 ENSG00000154265 23461 ATP binding cassette transporters / subfamily A 35 protein-coding gene gene with protein product 612503 NA 8894702 Standard NM_018672 NM_172232 NA Approved EST90625 uc002jig.2 Q8WWZ7 ENST00000392676.3:c.2878A>G chr17.hg19:g.67267317T>C ENSP00000376443:p.Met960Val NA Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14 hg19 CCDS11685.1 0.02 9.097562 GCAxCAC COVERED 1106 0.5064102564102564 228 0.4634146341463415 183 0.505524861878453 362 0.6328671328671329 333 0.4393139841688654 T 0.009 -1.827882 0.00584 0.45143 0.461279 ENSG00000154265 ENST00000392677;ENST00000392676 D;D 0.86497 -2.13;-2.13 5.5 1.95 0.26073 . 0.388405 0.24861 N 0.035020 T 0.00012 0.0000 N 0.13043 0.29 0.51482 P 7.199999999996098E-5 B 0.02656 0.0 B 0.04013 0.001 T 0.46442 -0.9191 8 . . . . 3.3547 0.07164 0.2829:0.3545:0.0:0.3626 rs557491;rs52818855;rs60930051;rs557491 960 Q8WWZ7 ABCA5_HUMAN V 961;960 ENSP00000376444:M961V;ENSP00000376443:M960V . M - 1 0 ABCA5 64778912 0.058000 0.20735 0.853000 0.33588 0.149000 0.21700 0.306000 0.19279 0.057000 0.16193 0.482000 0.46254 ATG NOVEL ABCA5-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000450654.1 0 14.139815 KEEP 0 0 0 47 1441 TT 1 1 0 - 15 60 541 0 0 37.070681 219 60 8089 349 ENST00000392676.3 0.064103 1 MAP2K6 5608 __UNKNOWN__ __UNKNOWN__ 17 67513003 67513003 __UNKNOWN__ Silent SNP C C A rs1133228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67513003C>A ENST00000590474.1 + 3 378 c.91C>A c.(91-93)Cga>Aga p.R31R MAP2K6_ENST00000589647.1_5'UTR NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 31 NA activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TAGACCACCTCGAGATTTAGA 0.373 NA C||| 2140 0.427316 0.4206 0.366 5008 , , NA 18878 0.4573 NA 0.4374 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 C 1818,2588 532.5+/-373.5 379,1060,764 156 145 149 91 3.6 1 17 dbSNP_100 149 3778,4822 535.2+/-382.8 831,2116,1353 no coding-synonymous MAP2K6 NM_002758.3 1210,3176,2117 AA,AC,CC 43.9302,41.2619,43.0263 31/335 67513003 5596,7410 2203 4300 6503 SO:0001819 synonymous_variant U39064 CCDS11686.1 17q 2011-06-09 5608 Mitogen-activated protein kinase cascade / Kinase kinases 6846 protein-coding gene gene with protein product protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) 601254 PRKMK6 NA 8621675 Standard NM_002758 XM_005257515 NA Approved MEK6, MKK6, SAPKK3, MAPKK6 uc002jij.3 P52564 ENST00000590474.1:c.91C>A chr17.hg19:g.67513003C>A NA hg19 CCDS11686.1 0.02 25.80459 CCTxGAG COVERED NOVEL MAP2K6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450689.1 3 24.979949 KEEP 0 0 0 83 2837 CC 1 1 0 + 32 70 1154 0 0 77.808588 522 60 18894 816 ENST00000590474.1 0.057762 1 MAP2K6 5608 __UNKNOWN__ __UNKNOWN__ 17 67513055 67513055 __UNKNOWN__ Intron SNP A A G rs2251855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67513055A>G ENST00000590474.1 + 3 419 MAP2K6_ENST00000589647.1_Intron NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 NA NA activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) GTAAGAAAAAATCATGTCTGC 0.373 NA A||| 2146 0.428514 0.4228 0.3703 5008 , , NA 19504 0.4573 NA 0.4374 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 A 1816,2590 529.0+/-372.6 384,1048,771 138 128 131 -1.7 0 17 dbSNP_100 131 3768,4830 530.8+/-381.9 832,2104,1363 no intron MAP2K6 NM_002758.3 1216,3152,2134 GG,GA,AA 43.8241,41.2165,42.9406 67513055 5584,7420 2203 4299 6502 SO:0001627 intron_variant U39064 CCDS11686.1 17q 2011-06-09 5608 Mitogen-activated protein kinase cascade / Kinase kinases 6846 protein-coding gene gene with protein product protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) 601254 PRKMK6 NA 8621675 Standard NM_002758 XM_005257515 NA Approved MEK6, MKK6, SAPKK3, MAPKK6 uc002jij.3 P52564 ENST00000590474.1:c.132+11A>G chr17.hg19:g.67513055A>G NA hg19 CCDS11686.1 0.02 21.852076 AAAxTCA COVERED NOVEL MAP2K6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450689.1 2 20.462586 KEEP 0 0 0 68 2161 AA 1 1 0 + 23 60 887 0 0 60.025221 437 60 16180 659 ENST00000590474.1 0.05 1 MAP2K6 5608 __UNKNOWN__ __UNKNOWN__ 17 67519542 67519542 __UNKNOWN__ Intron SNP G G A rs2251160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67519542G>A ENST00000590474.1 + 8 822 MAP2K6_ENST00000589647.1_Intron NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 NA NA activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) GTGTTGGGCAGCTTGGGGAAA 0.438 NA A||| 2934 0.585863 0.7118 0.4712 5008 , , NA 21071 0.4722 NA 0.6272 False NA ,,, NA NA NA 2504 0.5716 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U39064 CCDS11686.1 17q 2011-06-09 5608 Mitogen-activated protein kinase cascade / Kinase kinases 6846 protein-coding gene gene with protein product protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) 601254 PRKMK6 NA 8621675 Standard NM_002758 XM_005257515 NA Approved MEK6, MKK6, SAPKK3, MAPKK6 uc002jij.3 P52564 ENST00000590474.1:c.536-113G>A chr17.hg19:g.67519542G>A NA hg19 CCDS11686.1 0.02 7.798005 GCAxCTT COVERED NOVEL MAP2K6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450689.1 1 3.912095 KEEP 0 0 0 13 439 GG 0.994391 0.994391 0 + 8 60 277 0 0 16.556072 215 60 8062 243 ENST00000590474.1 0.035874 1 MAP2K6 5608 __UNKNOWN__ __UNKNOWN__ 17 67532388 67532388 __UNKNOWN__ Intron SNP A A G rs3815035 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:67532388A>G ENST00000590474.1 + 11 1214 MAP2K6_ENST00000589647.1_Intron NM_002758.3 NP_002749.2 P52564 MP2K6_HUMAN mitogen-activated protein kinase kinase 6 NA NA activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713) central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 20 Breast(10;6.05e-10) TCACATCACCATATTGGAAGA 0.378 NA A||| 1146 0.228834 0.3283 0.1369 5008 , , NA 17372 0.2937 NA 0.161 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U39064 CCDS11686.1 17q 2011-06-09 5608 Mitogen-activated protein kinase cascade / Kinase kinases 6846 protein-coding gene gene with protein product protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6) 601254 PRKMK6 NA 8621675 Standard NM_002758 XM_005257515 NA Approved MEK6, MKK6, SAPKK3, MAPKK6 uc002jij.3 P52564 ENST00000590474.1:c.927+87A>G chr17.hg19:g.67532388A>G NA hg19 CCDS11686.1 0.02 1.973853 ACCxTAT COVERED NOVEL MAP2K6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450689.1 1 3.910563 KEEP 0 0 0 13 390 AA 0.994391 0.991133 0 + 4 60 143 0 0 9.552193 66 60 2442 94 ENST00000590474.1 0.057143 0.996724 COG1 9382 __UNKNOWN__ __UNKNOWN__ 17 71189182 71189182 __UNKNOWN__ 5'UTR SNP A A G rs3764359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71189182A>G ENST00000299886.4 + 0 54 RP11-143K11.5_ENST00000580671.1_RNA NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 NA NA Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GGGCGTAGGTAGATCGCCGGG 0.697 NA G||| 2634 0.525958 0.5083 0.5014 5008 , , NA 7992 0.6171 NA 0.5527 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 G 2259,2013 633,993,510 10 12 12 3.8 0.8 17 dbSNP_107 12 4557,3843 1330,1897,973 no utr-5 COG1 NM_018714.2 1963,2890,1483 GG,GA,AA 45.75,47.1208,46.2121 71189182 6816,5856 2136 4200 6336 SO:0001623 5_prime_UTR_variant CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382 Components of oligomeric golgi complex 6545 protein-coding gene gene with protein product 606973 low density lipoprotein receptor defect B complementing LDLB NA 9927668 Standard NM_018714 NA Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.-27A>G chr17.hg19:g.71189182A>G NA Q9NPV9|Q9P2G6 hg19 CCDS11692.1 0.02 4.918869 GGTxGAT COVERED NOVEL COG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441638.1 1 7.31911 KEEP 0 3 105 61 1822 AA 1 0.999992 0 + 7 60 252 0 0 17.269596 102 60 3360 238 ENST00000299886.4 0.06422 0.999992 COG1 9382 __UNKNOWN__ __UNKNOWN__ 17 71192663 71192663 __UNKNOWN__ Silent SNP G G A rs1052706|rs368159231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71192663G>A ENST00000299886.4 + 2 413 c.333G>A c.(331-333)caG>caA p.Q111Q RP11-143K11.5_ENST00000580671.1_RNA NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 111 NA Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) AGCCATCCCAGGAGAAGTTCT 0.512 NA G||| 2251 0.449481 0.2405 0.4726 5008 , , NA 19202 0.6171 NA 0.5457 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 G 1213,3193 416.7+/-337.7 179,855,1169 82 89 86 333 2.1 1 17 dbSNP_86 86 4598,4002 596.6+/-393.6 1250,2098,952 no coding-synonymous COG1 NM_018714.2 1429,2953,2121 AA,AG,GG 46.5349,27.5306,44.6794 111/981 71192663 5811,7195 2203 4300 6503 SO:0001819 synonymous_variant CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382 Components of oligomeric golgi complex 6545 protein-coding gene gene with protein product 606973 low density lipoprotein receptor defect B complementing LDLB NA 9927668 Standard NM_018714 NA Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.333G>A chr17.hg19:g.71192663G>A NA Q9NPV9|Q9P2G6 hg19 CCDS11692.1 0.02 4.329735 CCAxGAG COVERED NOVEL COG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441638.1 0 7.827962 KEEP 0 3 88 57 2001 GG 1 1 0 + 6 60 220 1 0 14.073362 136 60 5119 240 ENST00000299886.4 0.042254 1 COG1 9382 __UNKNOWN__ __UNKNOWN__ 17 71192873 71192873 __UNKNOWN__ Silent SNP A A G rs11544800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71192873A>G ENST00000299886.4 + 2 623 c.543A>G c.(541-543)gcA>gcG p.A181A NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 181 NA Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GGCAGGTGGCAGCCGCCAGCC 0.572 NA A||| 2260 0.451278 0.2451 0.4755 5008 , , NA 13936 0.6181 NA 0.5457 False NA ,,, NA NA NA 2504 0.4438 NA NA NA NA 0 A 1226,3180 186,854,1163 29 31 30 543 -0.1 0.9 17 dbSNP_120 30 4610,3990 1268,2074,958 no coding-synonymous COG1 NM_018714.2 1454,2928,2121 GG,GA,AA 46.3953,27.8257,44.8716 181/981 71192873 5836,7170 2203 4300 6503 SO:0001819 synonymous_variant CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382 Components of oligomeric golgi complex 6545 protein-coding gene gene with protein product 606973 low density lipoprotein receptor defect B complementing LDLB NA 9927668 Standard NM_018714 NA Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.543A>G chr17.hg19:g.71192873A>G NA Q9NPV9|Q9P2G6 hg19 CCDS11692.1 0.02 6.290405 GGCxGCC COVERED NOVEL COG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441638.1 1 8.863427 KEEP 0 2 55 49 1371 AA 1 1 0 + 9 60 312 0 0 20.543349 148 60 4516 313 ENST00000299886.4 0.057325 1 COG1 9382 __UNKNOWN__ __UNKNOWN__ 17 71193594 71193594 __UNKNOWN__ Intron SNP G G A rs7221701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71193594G>A ENST00000299886.4 + 4 993 NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 NA NA Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) tttgctcagcgtctaccgtgt 0.512 NA G||| 2612 0.521565 0.4932 0.5 5008 , , NA 20111 0.6171 NA 0.5527 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382 Components of oligomeric golgi complex 6545 protein-coding gene gene with protein product 606973 low density lipoprotein receptor defect B complementing LDLB NA 9927668 Standard NM_018714 NA Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.913+59G>A chr17.hg19:g.71193594G>A NA Q9NPV9|Q9P2G6 hg19 CCDS11692.1 0.02 4.413865 AGCxTCT COVERED NOVEL COG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441638.1 2 13.177732 KEEP 0 1 32 55 1938 GG 1 0.999999 0 + 6 60 223 0 0 14.79823 115 60 4162 221 ENST00000299886.4 0.049587 0.999999 COG1 9382 __UNKNOWN__ __UNKNOWN__ 17 71196809 71196809 __UNKNOWN__ Missense_Mutation SNP A A G rs1026128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71196809A>G ENST00000299886.4 + 6 1255 c.1175A>G c.(1174-1176)aAt>aGt p.N392S NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 392 NA N -> S (in dbSNP:rs1026128). Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) TTACTTACCAATGAGTCCACC 0.507 NA A||| 2609 0.520966 0.4909 0.5 5008 , , NA 19824 0.6171 NA 0.5527 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 A SER/ASN 2280,2126 597.3+/-388.8 589,1102,512 106 98 101 1175 -2.4 0 17 dbSNP_86 101 4641,3959 602.2+/-394.5 1272,2097,931 yes missense COG1 NM_018714.2 46 1861,3199,1443 GG,GA,AA 46.0349,48.2524,46.7861 benign 392/981 71196809 6921,6085 2203 4300 6503 SO:0001583 missense CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382 Components of oligomeric golgi complex 6545 protein-coding gene gene with protein product 606973 low density lipoprotein receptor defect B complementing LDLB NA 9927668 Standard NM_018714 NA Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.1175A>G chr17.hg19:g.71196809A>G ENSP00000299886:p.Asn392Ser NA Q9NPV9|Q9P2G6 hg19 CCDS11692.1 0.02 9.378314 CCAxTGA COVERED 1213 0.5554029304029304 254 0.516260162601626 187 0.5165745856353591 358 0.6258741258741258 414 0.5461741424802111 A 10.44 1.350473 0.24512 0.517476 0.539651 ENSG00000166685 ENST00000438720;ENST00000299886 T;T 0.21361 2.01;2.02 5.53 -2.44 0.06502 . 0.547822 0.21825 N 0.068579 T 0.00012 0.0000 N 0.11201 0.11 0.44918 P 0.0020609999999999795 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.38972 -0.9636 9 0.02654 T 1 -4.4923 8.4993 0.33148 0.1936:0.0:0.6478:0.1586 rs1026128;rs17781537;rs60629125;rs1026128 392;392 E9PBL8;Q8WTW3 .;COG1_HUMAN S 392 ENSP00000400111:N392S;ENSP00000299886:N392S ENSP00000299886:N392S N + 2 0 COG1 68708404 0.859000 0.29813 0.000000 0.03702 0.704000 0.40688 1.233000 0.32648 -0.404000 0.07610 0.460000 0.39030 AAT NOVEL COG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441638.1 0 10.818417 KEEP 0 3 103 72 2203 AA 1 1 0 + 10 60 385 0 0 26.032336 190 60 6923 350 ENST00000299886.4 0.05 1 COG1 9382 __UNKNOWN__ __UNKNOWN__ 17 71197748 71197748 __UNKNOWN__ Silent SNP G G A rs1037256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71197748G>A ENST00000299886.4 + 7 1862 c.1782G>A c.(1780-1782)gaG>gaA p.E594E NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 594 NA Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031) Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) GCATTGAAGAGGGTGTGCAAG 0.592 NA A||| 2631 0.525359 0.5068 0.5014 5008 , , NA 22822 0.6171 NA 0.5527 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 A 2318,2088 574.9+/-383.9 608,1102,493 82 66 71 1782 -8.9 0 17 dbSNP_86 71 4641,3959 550.8+/-385.8 1272,2097,931 no coding-synonymous COG1 NM_018714.2 1880,3199,1424 AA,AG,GG 46.0349,47.3899,46.4939 594/981 71197748 6959,6047 2203 4300 6503 SO:0001819 synonymous_variant CCDS11692.1 17q25.1 2008-05-14 2002-05-28 2002-05-31 ENSG00000166685 9382 Components of oligomeric golgi complex 6545 protein-coding gene gene with protein product 606973 low density lipoprotein receptor defect B complementing LDLB NA 9927668 Standard NM_018714 NA Approved KIAA1381 uc002jjg.3 Q8WTW3 ENST00000299886.4:c.1782G>A chr17.hg19:g.71197748G>A NA Q9NPV9|Q9P2G6 hg19 CCDS11692.1 0.02 15.21125 AGAxGGT COVERED NOVEL COG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441638.1 3 5.893392 KEEP 0 5 161 76 2685 GG 1 1 0 + 16 60 583 0 0 37.644863 338 60 12625 538 ENST00000299886.4 0.045198 1 C17orf80 55028 __UNKNOWN__ __UNKNOWN__ 17 71231604 71231604 __UNKNOWN__ Intron SNP A A C rs3751925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71231604A>C ENST00000535032.2 + 2 106 C17orf80_ENST00000268942.8_Intron|C17orf80_ENST00000255557.4_Intron|C17orf80_ENST00000577615.1_Intron|C17orf80_ENST00000426147.2_Intron|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Intron|C17orf80_ENST00000582793.1_Intron Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 NA NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) TCTCACATTTACCTTTTTCAG 0.343 NA A||| 2604 0.519968 0.4879 0.5014 5008 , , NA 20388 0.6379 NA 0.5577 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 A ,, 2261,2145 586.0+/-386.4 578,1105,520 47 40 42 ,, -5.3 0 17 dbSNP_107 42 4623,3977 586.5+/-392.0 1264,2095,941 no intron,intron,intron C17orf80 NM_001100621.1,NM_001100622.1,NM_017941.4 ,, 1842,3200,1461 CC,CA,AA 46.2442,48.6836,47.0706 ,, ,, 71231604 6884,6122 2203 4300 6503 SO:0001627 intron_variant AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028 29601 protein-coding gene gene with protein product sperm-expressed protein 1, migration-inducing protein 3 NA 12477932 Standard NM_017941 NM_017941 NA Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.-7-11A>C chr17.hg19:g.71231604A>C NA A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 hg19 CCDS11694.1 0.02 13.228468 TTTxCCT COVERED NOVEL C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441893.1 3 4.712194 KEEP 0 3 92 48 1467 AA 1 1 0 + 15 60 556 0 0 36.534223 302 60 10684 406 ENST00000535032.2 0.047319 1 C17orf80 55028 __UNKNOWN__ __UNKNOWN__ 17 71232687 71232687 __UNKNOWN__ Missense_Mutation SNP T T C rs745143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71232687T>C ENST00000535032.2 + 2 1179 c.1066T>C c.(1066-1068)Ttc>Ctc p.F356L C17orf80_ENST00000268942.8_Missense_Mutation_p.F356L|C17orf80_ENST00000255557.4_Missense_Mutation_p.F356L|C17orf80_ENST00000577615.1_Missense_Mutation_p.F356L|C17orf80_ENST00000426147.2_Missense_Mutation_p.F356L|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.F356L|C17orf80_ENST00000582793.1_Intron Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 356 NA F -> L (in dbSNP:rs745143). {ECO:0000269|Ref.1}. extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) TTTAAGTTTGTTCATTCCGAG 0.453 NA C||| 2601 0.519369 0.4879 0.5029 5008 , , NA 21212 0.6329 NA 0.5586 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 C LEU/PHE,LEU/PHE,LEU/PHE 2261,2145 582.9+/-385.7 578,1105,520 72 67 69 1066,1066,1066 1.8 0 17 dbSNP_86 69 4644,3956 550.8+/-385.8 1273,2098,929 yes missense,missense,missense C17orf80 NM_001100621.1,NM_001100622.1,NM_017941.4 22,22,22 1851,3203,1449 CC,CT,TT 46.0,48.6836,46.9091 benign,benign,benign 356/574,356/584,356/610 71232687 6905,6101 2203 4300 6503 SO:0001583 missense AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028 29601 protein-coding gene gene with protein product sperm-expressed protein 1, migration-inducing protein 3 NA 12477932 Standard NM_017941 NM_017941 NA Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.1066T>C chr17.hg19:g.71232687T>C ENSP00000440551:p.Phe356Leu NA A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 hg19 CCDS11694.1 0.02 16.980793 TTGxTCA COVERED 1229 0.5627289377289377 253 0.5142276422764228 189 0.5220994475138122 366 0.6398601398601399 421 0.5554089709762533 C 1.554 -0.538527 0.04082 0.513164 0.54 ENSG00000141219 ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032 T;T;T;T;T 0.11277 2.8;2.97;2.79;2.98;2.97 5.28 1.81 0.25067 . 0.547091 0.17892 N 0.158484 T 0.00012 0.0000 L 0.47716 1.5 0.80722 P 0.0 B;B;B;B 0.06786 0.0;0.0;0.0;0.001 B;B;B;B 0.09377 0.002;0.003;0.003;0.004 T 0.23368 -1.0190 9 0.27785 T 0.31 -0.1307 9.1155 0.36755 0.0:0.24:0.0:0.76 rs745143;rs17781723;rs59471097;rs745143 356;356;356;356 B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3 .;CQ080_HUMAN;.;. L 356 ENSP00000255557:F356L;ENSP00000351937:F356L;ENSP00000268942:F356L;ENSP00000396970:F356L;ENSP00000440551:F356L ENSP00000255557:F356L F + 1 0 C17orf80 68744282 0.004000 0.15560 0.000000 0.03702 0.040000 0.13550 -0.218000 0.09240 -0.214000 0.10078 -1.195000 0.01675 TTC NOVEL C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441893.1 2 6.859311 KEEP 0 4 141 72 2235 TT 1 1 0 + 15 60 569 0 0 37.047077 342 60 12128 490 ENST00000535032.2 0.042017 1 C17orf80 55028 __UNKNOWN__ __UNKNOWN__ 17 71232807 71232807 __UNKNOWN__ Missense_Mutation SNP T T C rs904383 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71232807T>C ENST00000535032.2 + 2 1299 c.1186T>C c.(1186-1188)Tgt>Cgt p.C396R C17orf80_ENST00000268942.8_Missense_Mutation_p.C396R|C17orf80_ENST00000255557.4_Missense_Mutation_p.C396R|C17orf80_ENST00000577615.1_Missense_Mutation_p.C396R|C17orf80_ENST00000426147.2_Missense_Mutation_p.C396R|FAM104A_ENST00000583178.1_5'UTR|C17orf80_ENST00000359042.2_Missense_Mutation_p.C396R|C17orf80_ENST00000582793.1_Intron Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 396 NA C -> R (in dbSNP:rs904383). {ECO:0000269|Ref.1}. extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) GAATCATCATTGTGTCCCTGA 0.443 NA C||| 2616 0.522364 0.4879 0.5101 5008 , , NA 21491 0.6329 NA 0.5666 False NA ,,, NA NA NA 2504 0.4182 NA NA NA NA 0 C ARG/CYS,ARG/CYS,ARG/CYS 2262,2144 582.5+/-385.6 578,1106,519 56 54 54 1186,1186,1186 2.7 0 17 dbSNP_86 54 4677,3923 547.2+/-385.1 1290,2097,913 yes missense,missense,missense C17orf80 NM_001100621.1,NM_001100622.1,NM_017941.4 180,180,180 1868,3203,1432 CC,CT,TT 45.6163,48.6609,46.6477 benign,benign,benign 396/574,396/584,396/610 71232807 6939,6067 2203 4300 6503 SO:0001583 missense AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028 29601 protein-coding gene gene with protein product sperm-expressed protein 1, migration-inducing protein 3 NA 12477932 Standard NM_017941 NM_017941 NA Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.1186T>C chr17.hg19:g.71232807T>C ENSP00000440551:p.Cys396Arg NA A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 hg19 CCDS11694.1 0.02 15.574869 CATxGTG COVERED 1242 0.5686813186813187 253 0.5142276422764228 195 0.5386740331491713 366 0.6398601398601399 428 0.5646437994722955 C 7.309 0.614691 0.14129 0.513391 0.543837 ENSG00000141219 ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032 T;T;T;T;T 0.10763 2.84;2.84;2.84;2.84;2.84 4.71 2.65 0.31530 . 2.230900 0.01871 N 0.037232 T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.43327 -0.9398 9 0.02654 T 1 5.8066 5.6895 0.17821 0.0:0.6451:0.1651:0.1898 rs904383;rs52801950;rs60166906 396;396;396;396 B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3 .;CQ080_HUMAN;.;. R 396 ENSP00000255557:C396R;ENSP00000351937:C396R;ENSP00000268942:C396R;ENSP00000396970:C396R;ENSP00000440551:C396R ENSP00000255557:C396R C + 1 0 C17orf80 68744402 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 0.898000 0.28404 0.542000 0.28846 -1.147000 0.01851 TGT NOVEL C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441893.1 1 17.921445 KEEP 0 2 70 84 2618 TT 1 1 0 + 11 60 395 0 0 23.478413 343 60 12464 537 ENST00000535032.2 0.031073 1 C17orf80 55028 __UNKNOWN__ __UNKNOWN__ 17 71232881 71232881 __UNKNOWN__ Missense_Mutation SNP G G C rs745142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71232881G>C ENST00000535032.2 + 2 1373 c.1260G>C c.(1258-1260)caG>caC p.Q420H C17orf80_ENST00000268942.8_Missense_Mutation_p.Q420H|C17orf80_ENST00000255557.4_Missense_Mutation_p.Q420H|C17orf80_ENST00000577615.1_Missense_Mutation_p.Q420H|C17orf80_ENST00000426147.2_Missense_Mutation_p.Q420H|FAM104A_ENST00000583178.1_5'UTR|C17orf80_ENST00000359042.2_Missense_Mutation_p.Q420H|C17orf80_ENST00000582793.1_Intron Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 420 NA Q -> H (in dbSNP:rs745142). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}. extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) CTGATAGTCAGTTCCAAGCAT 0.517 NA G||| 2613 0.521765 0.4879 0.5101 5008 , , NA 19948 0.6329 NA 0.5646 False NA ,,, NA NA NA 2504 0.4172 NA NA NA NA 0 G HIS/GLN,HIS/GLN,HIS/GLN 2263,2143 594.9+/-388.3 578,1107,518 77 68 71 1260,1260,1260 1.6 0 17 dbSNP_86 71 4678,3922 604.7+/-394.9 1291,2096,913 yes missense,missense,missense C17orf80 NM_001100621.1,NM_001100622.1,NM_017941.4 24,24,24 1869,3203,1431 CC,CG,GG 45.6047,48.6382,46.6323 benign,benign,benign 420/574,420/584,420/610 71232881 6941,6065 2203 4300 6503 SO:0001583 missense AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028 29601 protein-coding gene gene with protein product sperm-expressed protein 1, migration-inducing protein 3 NA 12477932 Standard NM_017941 NM_017941 NA Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.1260G>C chr17.hg19:g.71232881G>C ENSP00000440551:p.Gln420His NA A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 hg19 CCDS11694.1 0.02 13.655423 TCAxTTC COVERED 1240 0.5677655677655677 253 0.5142276422764228 195 0.5386740331491713 366 0.6398601398601399 426 0.5620052770448549 G 8.505 0.865125 0.17250 0.513618 0.543953 ENSG00000141219 ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032 T;T;T;T;T 0.13089 2.62;2.84;2.62;2.82;2.84 4.87 1.64 0.23874 . 4.068360 0.00397 N 0.000059 T 0.00012 0.0000 L 0.29908 0.895 0.80722 P 0.0 P;P;P;P 0.42649 0.504;0.504;0.504;0.786 B;B;B;B 0.43251 0.318;0.318;0.413;0.323 T 0.42241 -0.9463 9 0.28530 T 0.3 4.528 3.771 0.08642 0.0928:0.162:0.578:0.1671 rs745142;rs17184322;rs52801932;rs57160198;rs745142 420;420;420;420 B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3 .;CQ080_HUMAN;.;. H 420 ENSP00000255557:Q420H;ENSP00000351937:Q420H;ENSP00000268942:Q420H;ENSP00000396970:Q420H;ENSP00000440551:Q420H ENSP00000255557:Q420H Q + 3 2 C17orf80 68744476 0.000000 0.05858 0.005000 0.12908 0.091000 0.18340 -0.011000 0.12721 0.439000 0.26476 0.561000 0.74099 CAG NOVEL C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441893.1 6 6.903889 KEEP 0 5 178 85 3076 GG 1 1 0 + 13 60 464 0 0 28.559729 333 60 12553 531 ENST00000535032.2 0.037572 1 C17orf80 55028 __UNKNOWN__ __UNKNOWN__ 17 71233130 71233130 __UNKNOWN__ Silent SNP A A G rs11869253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71233130A>G ENST00000535032.2 + 2 1622 c.1509A>G c.(1507-1509)tcA>tcG p.S503S C17orf80_ENST00000268942.8_Silent_p.S503S|C17orf80_ENST00000255557.4_Silent_p.S503S|C17orf80_ENST00000577615.1_Silent_p.S503S|C17orf80_ENST00000426147.2_Silent_p.S503S|C17orf80_ENST00000359042.2_Silent_p.S503S|C17orf80_ENST00000582793.1_Intron Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 503 NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) AAAGACTCTCACAAGGTAAAC 0.443 NA G||| 2602 0.519569 0.4887 0.5029 5008 , , NA 20938 0.6329 NA 0.5586 False NA ,,, NA NA NA 2504 0.4162 NA NA NA NA 0 G ,, 2266,2052 611,1044,504 26 30 28 1509,1509,1509 -9.4 0 17 dbSNP_120 28 4641,3883 1289,2063,910 no coding-synonymous,coding-synonymous,coding-synonymous C17orf80 NM_001100621.1,NM_001100622.1,NM_017941.4 ,, 1900,3107,1414 GG,GA,AA 45.5537,47.522,46.2155 ,, 503/574,503/584,503/610 71233130 6907,5935 2159 4262 6421 SO:0001819 synonymous_variant AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028 29601 protein-coding gene gene with protein product sperm-expressed protein 1, migration-inducing protein 3 NA 12477932 Standard NM_017941 NM_017941 NA Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.1509A>G chr17.hg19:g.71233130A>G NA A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 hg19 CCDS11694.1 0.02 18.461148 CTCxCAA COVERED NOVEL C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441893.1 3 24.710173 KEEP 0 1 37 95 2988 AA 1 1 0 + 17 60 626 0 0 39.908699 398 60 14548 652 ENST00000535032.2 0.040964 1 C17orf80 55028 __UNKNOWN__ __UNKNOWN__ 17 71238433 71238433 __UNKNOWN__ Missense_Mutation SNP G G A rs1566286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71238433G>A ENST00000535032.2 + 3 1677 c.1564G>A c.(1564-1566)Gcc>Acc p.A522T C17orf80_ENST00000268942.8_Intron|C17orf80_ENST00000255557.4_Intron|C17orf80_ENST00000577615.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.A522T|C17orf80_ENST00000359042.2_Missense_Mutation_p.A522T|C17orf80_ENST00000582793.1_5'UTR Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 522 NA A -> T (in dbSNP:rs1566286). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}. extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) GGAACCCCCTGCCGGACTTAC 0.468 NA A||| 2584 0.515974 0.4781 0.5 5008 , , NA 17636 0.6379 NA 0.5577 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 A ,THR/ALA,THR/ALA 2211,2195 589.8+/-387.2 552,1107,544 117 125 122 ,1564,1564 -11.3 0 17 dbSNP_88 122 4636,3964 551.5+/-385.9 1268,2100,932 yes intron,missense,missense C17orf80 NM_001100621.1,NM_001100622.1,NM_017941.4 ,58,58 1820,3207,1476 AA,AG,GG 46.093,49.8184,47.3551 ,benign,benign ,522/584,522/610 71238433 6847,6159 2203 4300 6503 SO:0001583 missense AY163812 CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1 17q25.1 2012-02-24 2012-02-24 2012-02-24 ENSG00000141219 ENSG00000141219 55028 29601 protein-coding gene gene with protein product sperm-expressed protein 1, migration-inducing protein 3 NA 12477932 Standard NM_017941 NM_017941 NA Approved HLC-8, MIG3, FLJ20721, SPEP1 uc002jjl.4 Q9BSJ5 ENST00000535032.2:c.1564G>A chr17.hg19:g.71238433G>A ENSP00000440551:p.Ala522Thr NA A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5 hg19 CCDS11694.1 0.02 11.879129 CCTxCCG COVERED 1224 0.5604395604395604 249 0.5060975609756098 189 0.5220994475138122 366 0.6398601398601399 420 0.554089709762533 A 0.061 -1.223528 0.01530 0.501816 0.53907 ENSG00000141219 ENST00000359042;ENST00000426147;ENST00000535032 T;T;T 0.12255 2.7;2.7;2.7 5.67 -11.3 0.00108 . 1.029440 0.07656 N 0.932748 T 0.00012 0.0000 N 0.00729 -1.24 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.45789 -0.9237 9 0.02654 T 1 0.6809 13.613 0.62091 0.1361:0.0883:0.6821:0.0934 rs1566286;rs3764364;rs17184385;rs52792569;rs60222902;rs1566286 522;522 Q9BSJ5;Q9BSJ5-3 CQ080_HUMAN;. T 522 ENSP00000351937:A522T;ENSP00000396970:A522T;ENSP00000440551:A522T ENSP00000351937:A522T A + 1 0 C17orf80 68750028 0.000000 0.05858 0.000000 0.03702 0.269000 0.26545 -0.879000 0.04188 -2.805000 0.00350 -1.204000 0.01649 GCC NOVEL C17orf80-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000441893.1 1 3.883254 KEEP 0 5 148 65 2341 GG 1 1 0 + 13 60 431 0 0 25.684919 312 60 11935 497 ENST00000535032.2 0.04 1 SDK2 54549 __UNKNOWN__ __UNKNOWN__ 17 71332663 71332663 __UNKNOWN__ 3'UTR SNP C C T rs868837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71332663C>T ENST00000392650.3 - 0 8582 SDK2_ENST00000388726.3_3'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGCATCTCCCCGTTCACATTT 0.562 NA C||| 1382 0.275958 0.1884 0.2248 5008 , , NA 19019 0.3185 NA 0.3767 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040947 CCDS45769.1 17q21.31 2013-02-11 2011-12-09 ENSG00000069188 ENSG00000069188 54549 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 19308 protein-coding gene gene with protein product 607217 sidekick homolog 2 (chicken) NA 12230981, 15213259 Standard NM_019064 NM_001144952 NA Approved FLJ10832, KIAA1514 uc010dfm.3 Q58EX2 OTTHUMG00000152726 ENST00000392650.3:c.*2063G>A chr17.hg19:g.71332663C>T NA A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214 hg19 CCDS45769.1 0.02 9.369629 CCCxGTT COVERED NOVEL SDK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327598.2 0 14.446214 KEEP 0 0 0 48 1657 CC 1 1 0 - 9 60 337 0 0 21.999832 194 60 6899 301 ENST00000392650.3 0.044335 1 SDK2 54549 __UNKNOWN__ __UNKNOWN__ 17 71333186 71333186 __UNKNOWN__ 3'UTR SNP A A G rs1105587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71333186A>G ENST00000392650.3 - 0 8059 SDK2_ENST00000388726.3_3'UTR NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CAGATtgtgtatgtgtatgtg 0.517 NA G||| 519 0.103634 0.1104 0.0893 5008 , , NA 20285 0.1587 NA 0.0586 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB040947 CCDS45769.1 17q21.31 2013-02-11 2011-12-09 ENSG00000069188 ENSG00000069188 54549 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 19308 protein-coding gene gene with protein product 607217 sidekick homolog 2 (chicken) NA 12230981, 15213259 Standard NM_019064 NM_001144952 NA Approved FLJ10832, KIAA1514 uc010dfm.3 Q58EX2 OTTHUMG00000152726 ENST00000392650.3:c.*1540T>C chr17.hg19:g.71333186A>G NA A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214 hg19 CCDS45769.1 0.02 10.851776 TGTxTGT COVERED NOVEL SDK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327598.2 3 15.674374 KEEP 0 1 34 64 1858 AA 1 1 0 - 13 60 452 2 2 29.146264 242 60 8163 361 ENST00000392650.3 0.05098 1 SDK2 54549 __UNKNOWN__ __UNKNOWN__ 17 71397366 71397366 __UNKNOWN__ Intron SNP G G A rs11653524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:71397366G>A ENST00000392650.3 - 21 2780 SDK2_ENST00000388726.3_Intron NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 NA NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GAGAGCCGCCGTGTTGGCATG 0.572 NA G||| 1526 0.304712 0.1717 0.2392 5008 , , NA 19905 0.4435 NA 0.2465 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 G 678,3520 65,548,1486 49 34 39 -1.7 0 17 dbSNP_120 39 1796,6310 221,1354,2478 no intron SDK2 NM_001144952.1 286,1902,3964 AA,AG,GG 22.1564,16.1505,20.1073 71397366 2474,9830 2099 4053 6152 SO:0001627 intron_variant AB040947 CCDS45769.1 17q21.31 2013-02-11 2011-12-09 ENSG00000069188 ENSG00000069188 54549 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 19308 protein-coding gene gene with protein product 607217 sidekick homolog 2 (chicken) NA 12230981, 15213259 Standard NM_019064 NM_001144952 NA Approved FLJ10832, KIAA1514 uc010dfm.3 Q58EX2 OTTHUMG00000152726 ENST00000392650.3:c.2780-16C>T chr17.hg19:g.71397366G>A NA A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214 hg19 CCDS45769.1 0.02 6.102869 GCCxTGT COVERED NOVEL SDK2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327598.2 3 12.63247 KEEP 0 0 0 42 1403 GG 1 1 0 - 9 60 324 0 0 21.249828 168 60 5930 270 ENST00000392650.3 0.050847 1 TTYH2 94015 __UNKNOWN__ __UNKNOWN__ 17 72256449 72256449 __UNKNOWN__ 3'UTR SNP C C T rs191801504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72256449C>T ENST00000269346.4 + 0 1780 CTD-2514K5.4_ENST00000583018.1_RNA|TTYH2_ENST00000529107.1_3'UTR|TTYH2_ENST00000441391.2_3'UTR NM_032646.5 NP_116035.5 Q9BSA4 TTYH2_HUMAN tweety family member 2 NA NA chloride channel complex (GO:0034707)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 ATCTGGAGCCCGAGAGGCCTC 0.547 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 18278 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32717.1, CCDS45770.1 17q25.1 2013-09-02 2013-09-02 ENSG00000141540 ENSG00000141540 94015 13877 protein-coding gene gene with protein product 608855 tweety (Drosophila) homolog 2, tweety homolog 2 (Drosophila) NA 11597145 Standard XM_005257824 NA Approved C17orf29 uc002jkc.3 Q9BSA4 OTTHUMG00000166018 ENST00000269346.4:c.*101C>T chr17.hg19:g.72256449C>T NA B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1 hg19 CCDS32717.1 0.02 10.743622 GCCxGAG COVERED NOVEL TTYH2-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000387459.1 1 16.550808 KEEP 0 0 0 55 1844 CC 1 1 0 + 21 60 774 0 0 54.513399 275 60 9179 381 ENST00000269346.4 0.070946 1 KIF19 124602 __UNKNOWN__ __UNKNOWN__ 17 72349067 72349067 __UNKNOWN__ Silent SNP C C T rs2280108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72349067C>T ENST00000389916.4 + 15 2226 c.2088C>T c.(2086-2088)agC>agT p.S696S NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 696 NA ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462) cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TGCAGAACAGCGCCCTCCCTC 0.607 NA C||| 1655 0.330471 0.0287 0.4409 5008 , , NA 17871 0.3988 NA 0.5109 False NA ,,, NA NA NA 2504 0.4039 NA NA NA NA 0 C 424,3614 31,362,1626 69 75 73 2088 3 0.1 17 dbSNP_100 73 4254,4102 1065,2124,989 no coding-synonymous KIF19 NM_153209.3 1096,2486,2615 TT,TC,CC 49.0905,10.5002,37.7441 696/999 72349067 4678,7716 2019 4178 6197 SO:0001819 synonymous_variant AK094619 CCDS32718.2 17q25 2007-02-13 ENSG00000196169 ENSG00000196169 124602 Kinesins 26735 protein-coding gene gene with protein product NA 11416179 Standard NM_153209 NM_153209 NA Approved FLJ37300, KIF19A uc031rei.1 Q2TAC6 OTTHUMG00000150694 ENST00000389916.4:c.2088C>T chr17.hg19:g.72349067C>T NA A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6 hg19 CCDS32718.2 0.02 6.0118 CAGxGCC COVERED NOVEL KIF19-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319644.2 0 6.018928 KEEP 0 0 0 20 679 CC 0.999863 0.999863 0 + 9 60 283 0 0 16.966916 191 60 6244 246 ENST00000389916.4 0.045 1 BTBD17 388419 __UNKNOWN__ __UNKNOWN__ 17 72357805 72357805 __UNKNOWN__ Intron SNP C C T rs12939498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72357805C>T ENST00000375366.3 - 1 212 NM_001080466.1 NP_001073935.1 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 NA NA negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615) extracellular region (GO:0005576)|plasma membrane (GO:0005886) endometrium(1)|kidney(1)|lung(4) 6 CCTGGCCGGCCGCGTGCAGCC 0.716 NA C||| 1687 0.336861 0.0348 0.4597 5008 , , NA 12353 0.3909 NA 0.4871 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32719.1 17q25.1 2013-01-08 ENSG00000204347 ENSG00000204347 388419 BTB/POZ domain containing 33758 protein-coding gene gene with protein product transport and golgi organization 10 homolog A (Drosophila) NA Standard NM_001080466 NM_001080466 NA Approved LGALS3BPL, BTBD17A, TANGO10A uc002jkn.2 A6NE02 OTTHUMG00000178580 ENST00000375366.3:c.85+68G>A chr17.hg19:g.72357805C>T NA hg19 CCDS32719.1 0.02 4.006875 GGCxGCG COVERED NOVEL BTBD17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442542.1 0 7.220709 KEEP 0 0 0 24 779 CC 0.999909 0.999908 0 - 8 60 247 0 0 15.748132 114 60 3799 171 ENST00000375366.3 0.065574 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 72575441 72575441 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72575441A>T NA NA CD300C (33159 upstream) : CD300LD (62 downstream) NA NA NA GGAGACTTGAACCCCACGGAA 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.72575441A>T NA hg19 0.02 -0.368458 TGAxCCC COVERED NOVEL 0 1 2.406891 KEEP 0 0 0 8 242 AA 0.99257 0.892632 0 3 60 100 0 0 6.741457 39 60 1395 54 0.071429 0.899314 RAB37 326624 __UNKNOWN__ __UNKNOWN__ 17 72738324 72738324 __UNKNOWN__ Intron SNP C C G rs3803786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72738324C>G ENST00000392613.5 + 3 260 RAB37_ENST00000392615.5_Intron|RAB37_ENST00000392610.1_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000392614.4_Intron|RAB37_ENST00000392612.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron NM_001006638.2 NP_001006639.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family NA NA protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141) GTP binding (GO:0005525) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GGGAACAAGACAGGACGTCTG 0.572 NA c||| 442 0.0882588 0.053 0.0879 5008 , , NA 20096 0.1409 NA 0.1083 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 ,,, 78,1306 1,76,615 93 97 96 ,,, -2.5 0 17 dbSNP_107 96 308,2874 16,276,1299 no intron,intron,intron,intron RAB37 NM_001006638.2,NM_001163989.1,NM_001163990.1,NM_175738.4 ,,, 17,352,1914 GG,GC,CC 9.6794,5.6358,8.4538 ,,, ,,, 72738324 386,4180 692 1591 2283 SO:0001627 intron_variant BC040547 CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1 17q25.2 2008-02-05 ENSG00000172794 ENSG00000172794 326624 RAB, member RAS oncogene 30268 protein-coding gene gene with protein product 609956 NA 10722846 Standard NM_175738 NM_175738 NA Approved uc002jlk.3 Q96AX2 OTTHUMG00000134282 ENST00000392613.5:c.205-69C>G chr17.hg19:g.72738324C>G NA A8MXF5|A8MYT0|Q8IWA7 hg19 CCDS32722.1 0.02 2.189011 AGAxAGG COVERED NOVEL RAB37-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258872.2 0 7.222921 KEEP 0 0 0 24 825 CC 0.999909 0.999771 0 + 6 60 236 0 0 16.861033 85 60 3134 145 ENST00000392613.5 0.065934 0.999862 NAT9 26151 __UNKNOWN__ __UNKNOWN__ 17 72769739 72769739 __UNKNOWN__ Missense_Mutation SNP A A G rs2305213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72769739A>G ENST00000580632.1 - 2 171 c.163T>C c.(163-165)Tgc>Cgc p.C55R NAT9_ENST00000580301.1_Missense_Mutation_p.C55R|NAT9_ENST00000583757.1_Missense_Mutation_p.C55R|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000581136.1_Missense_Mutation_p.C56R|NAT9_ENST00000357814.3_Missense_Mutation_p.C56R|NAT9_ENST00000582524.1_Missense_Mutation_p.C56R|NAT9_ENST00000583476.1_Missense_Mutation_p.C56R|NAT9_ENST00000582870.1_Missense_Mutation_p.C60R|NAT9_ENST00000578822.1_Missense_Mutation_p.C61R Q9BTE0 NAT9_HUMAN N-acetyltransferase 9 (GCN5-related, putative) 56 N-acetyltransferase. NA protein complex (GO:0043234) N-acetyltransferase activity (GO:0008080) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3) 8 TGCCAGCTGCACTGCATGGCA 0.607 NA G||| 618 0.123403 0.2481 0.1974 5008 , , NA 19822 0.0308 NA 0.0716 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 G ARG/CYS 929,3477 738.3+/-411.0 98,733,1372 112 99 104 166 3 0.4 17 dbSNP_100 104 634,7966 790.8+/-407.6 28,578,3694 yes missense NAT9 NM_015654.3 180 126,1311,5066 GG,GA,AA 7.3721,21.0849,12.0175 benign 56/208 72769739 1563,11443 2203 4300 6503 SO:0001583 missense AK123115 CCDS11706.1 17q25.2 2011-11-25 2008-09-24 ENSG00000109065 ENSG00000109065 26151 23133 protein-coding gene gene with protein product N-acetyltransferase 9 NA 14608357 Standard NM_015654 NM_015654 NA Approved DKFZP564C103 uc002jlq.3 Q9BTE0 ENST00000580632.1:c.163T>C chr17.hg19:g.72769739A>G ENSP00000463523:p.Cys55Arg NA B2R7F0|Q9BTD0|Q9Y3T3 hg19 0.02 9.065297 TGCxCTG COVERED 250 0.11446886446886446 128 0.2601626016260163 51 0.1408839779005525 20 0.03496503496503497 51 0.06728232189973615 G 9.888 1.203566 0.22121 0.210849 0.073721 ENSG00000109065 ENST00000357814 T 0.39056 1.1 5.0 2.99 0.34606 Acyl-CoA N-acyltransferase (2); 1.053250 0.07300 N 0.873929 T 0.00012 0.0000 N 0.00275 -1.725 0.24718 P 0.99316618 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.35251 -0.9796 9 0.08837 T 0.75 -0.0851 9.9094 0.41397 0.2264:0.0:0.7736:0.0 rs2305213;rs61327448;rs2305213 55;56 Q9BTE0-2;Q9BTE0 .;NAT9_HUMAN R 56 ENSP00000350467:C56R ENSP00000350467:C56R C - 1 0 NAT9 70281334 0.509000 0.26163 0.361000 0.25849 0.903000 0.53119 0.785000 0.26830 0.234000 0.21139 -0.355000 0.07637 TGC NOVEL NAT9-026 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444114.1 1 18.955211 KEEP 0 0 0 63 1923 AA 1 1 0 - 12 60 404 0 0 26.045326 203 60 7331 344 ENST00000580632.1 0.055814 1 NAT9 26151 __UNKNOWN__ __UNKNOWN__ 17 72771766 72771766 __UNKNOWN__ Silent SNP C C G rs4788850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72771766C>G ENST00000580632.1 - 1 80 c.72G>C c.(70-72)gtG>gtC p.V24V NAT9_ENST00000580301.1_Silent_p.V24V|NAT9_ENST00000583757.1_Silent_p.V24V|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000581136.1_Silent_p.V24V|NAT9_ENST00000357814.3_Silent_p.V24V|NAT9_ENST00000582524.1_Silent_p.V24V|NAT9_ENST00000583476.1_Silent_p.V24V|NAT9_ENST00000582870.1_Silent_p.V29V|NAT9_ENST00000578822.1_Silent_p.V29V Q9BTE0 NAT9_HUMAN N-acetyltransferase 9 (GCN5-related, putative) 24 NA protein complex (GO:0043234) N-acetyltransferase activity (GO:0008080) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3) 8 GATACCTGGGCACATGCTCCG 0.542 NA C||| 504 0.100639 0.1747 0.1888 5008 , , NA 19699 0.0288 NA 0.0686 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 C 670,3736 282.2+/-276.4 52,566,1585 156 108 124 72 -0.5 1 17 dbSNP_111 124 621,7979 161.0+/-214.0 28,565,3707 no coding-synonymous NAT9 NM_015654.3 80,1131,5292 GG,GC,CC 7.2209,15.2065,9.9262 24/208 72771766 1291,11715 2203 4300 6503 SO:0001819 synonymous_variant AK123115 CCDS11706.1 17q25.2 2011-11-25 2008-09-24 ENSG00000109065 ENSG00000109065 26151 23133 protein-coding gene gene with protein product N-acetyltransferase 9 NA 14608357 Standard NM_015654 NM_015654 NA Approved DKFZP564C103 uc002jlq.3 Q9BTE0 ENST00000580632.1:c.72G>C chr17.hg19:g.72771766C>G NA B2R7F0|Q9BTD0|Q9Y3T3 hg19 0.02 9.491897 GGGxACA COVERED NOVEL NAT9-026 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444114.1 1 26.184998 KEEP 0 0 0 87 3085 CC 1 1 0 - 10 60 376 0 0 24.233567 235 60 9071 431 ENST00000580632.1 0.040816 1 TMEM104 54868 __UNKNOWN__ __UNKNOWN__ 17 72832928 72832928 __UNKNOWN__ Intron SNP G G A rs11558036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72832928G>A ENST00000417024.2 + 10 915 TMEM104_ENST00000335464.5_3'UTR|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_3'UTR Q8NE00 TM104_HUMAN transmembrane protein 104 NA NA integral component of membrane (GO:0016021) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1) 19 all_lung(278;0.23) TCATGGGGCAGGTGGGACTGT 0.657 NA G||| 1078 0.215256 0.0136 0.1643 5008 , , NA 16498 0.376 NA 0.2952 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074029 CCDS32723.1 17q25.1 2005-12-19 ENSG00000109066 54868 25984 protein-coding gene gene with protein product NA Standard NM_017728 NM_017728 NA Approved FLJ20255, FLJ00021 uc002jls.4 Q8NE00 ENST00000417024.2:c.770-2098G>A chr17.hg19:g.72832928G>A NA Q8TEU1|Q9NT56|Q9NXH1 hg19 0.02 2.225107 GCAxGTG COVERED NOVEL TMEM104-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000444438.1 1 2.705917 KEEP 0 0 0 9 276 GG 0.99254 0.992268 0 + 5 60 194 0 0 13.479625 82 60 2880 97 ENST00000417024.2 0.057471 0.999726 FDXR 2232 __UNKNOWN__ __UNKNOWN__ 17 72860654 72860654 __UNKNOWN__ Silent SNP G G A rs2070921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72860654G>A ENST00000544854.1 - 7 781 c.594C>T c.(592-594)gcC>gcT p.A198A FDXR_ENST00000420580.2_Silent_p.A210A|FDXR_ENST00000581530.1_Silent_p.A256A|FDXR_ENST00000455107.2_Silent_p.A206A|FDXR_ENST00000413947.2_Silent_p.A281A|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000293195.5_Silent_p.A250A|FDXR_ENST00000582944.1_Silent_p.A242A|FDXR_ENST00000442102.2_Silent_p.A293A NM_001258016.1 NP_001244945.1 P22570 ADRO_HUMAN ferredoxin reductase 250 NA cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) Flavin adenine dinucleotide(DB03147) AAATGGGCCGGGCTCCCGGTA 0.617 NA OREG0024720 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 277 0.0553115 0.0023 0.0663 5008 , , NA 14594 0.1458 NA 0.0139 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 G , 13,4393 19.1+/-41.9 0,13,2190 46 51 49 768,750 -0.2 1 17 dbSNP_96 49 81,8519 46.3+/-105.2 0,81,4219 no coding-synonymous,coding-synonymous FDXR NM_004110.3,NM_024417.2 , 0,94,6409 AA,AG,GG 0.9419,0.2951,0.7227 , 256/498,250/492 72860654 94,12912 2203 4300 6503 SO:0001819 synonymous_variant J03826 CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1 17q25.1 2013-06-18 ENSG00000161513 ENSG00000161513 2232 1.18.1.6 3642 protein-coding gene gene with protein product adrenodoxin-NADP(+) reductase, adrenodoxin reductase 103270 ADXR NA 2969697 Standard NM_004110 NM_001258014 NA Approved uc010wrl.2 P22570 OTTHUMG00000179026 ENST00000544854.1:c.594C>T chr17.hg19:g.72860654G>A 1140 B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12 hg19 CCDS58591.1 0.02 8.738643 CCGxGCT COVERED NOVEL FDXR-011 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000444450.2 0 25.415803 KEEP 0 1 27 94 3300 GG 1 1 0 - 16 60 593 0 0 41.387784 225 60 8120 423 ENST00000544854.1 0.06639 1 FDXR 2232 __UNKNOWN__ __UNKNOWN__ 17 72861980 72861980 __UNKNOWN__ Intron SNP G G A rs2070920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72861980G>A ENST00000544854.1 - 5 539 FDXR_ENST00000420580.2_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000455107.2_Intron|FDXR_ENST00000413947.2_Intron|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000293195.5_Intron|FDXR_ENST00000582944.1_Intron|FDXR_ENST00000442102.2_Intron NM_001258016.1 NP_001244945.1 P22570 ADRO_HUMAN ferredoxin reductase NA NA cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) Flavin adenine dinucleotide(DB03147) CCCCGGCCTCGCTCCACTCAG 0.637 NA G||| 668 0.133387 0.0446 0.1441 5008 , , NA 18119 0.2381 NA 0.0427 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 G , 203,4199 8,187,2006 45 33 37 , 3.2 0 17 dbSNP_96 37 249,8347 4,241,4053 no intron,intron FDXR NM_004110.3,NM_024417.2 , 12,428,6059 AA,AG,GG 2.8967,4.6115,3.4775 , , 72861980 452,12546 2201 4298 6499 SO:0001627 intron_variant J03826 CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1 17q25.1 2013-06-18 ENSG00000161513 ENSG00000161513 2232 1.18.1.6 3642 protein-coding gene gene with protein product adrenodoxin-NADP(+) reductase, adrenodoxin reductase 103270 ADXR NA 2969697 Standard NM_004110 NM_001258014 NA Approved uc010wrl.2 P22570 OTTHUMG00000179026 ENST00000544854.1:c.352-38C>T chr17.hg19:g.72861980G>A NA B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12 hg19 CCDS58591.1 0.02 1.939952 CTCxCTC COVERED NOVEL FDXR-011 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000444450.2 1 18.311285 KEEP 0 0 0 61 2094 GG 1 0.9982 0 - 5 60 176 0 0 12.044943 69 60 2421 190 ENST00000544854.1 0.067568 0.9982 HID1 283987 __UNKNOWN__ __UNKNOWN__ 17 72949649 72949649 __UNKNOWN__ Silent SNP C C T rs2087718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72949649C>T ENST00000425042.2 - 15 2039 c.1962G>A c.(1960-1962)ccG>ccA p.P654P NM_030630.2 NP_085133.1 Q8IV36 HID1_HUMAN HID1 domain containing 654 NA intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001) cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138) NA CCCCCTTAGCCGGGCTGCCAT 0.672 NA T||| 728 0.145367 0.0076 0.0879 5008 , , NA 15227 0.503 NA 0.0189 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 T 40,4366 821.8+/-416.4 0,40,2163 54 53 53 1962 -8.9 0 17 dbSNP_96 53 204,8396 809.5+/-407.2 5,194,4101 no coding-synonymous C17orf28 NM_030630.2 5,234,6264 TT,TC,CC 2.3721,0.9079,1.8761 654/789 72949649 244,12762 2203 4300 6503 SO:0001819 synonymous_variant CCDS32726.1 17q25.1 2012-10-10 2012-10-10 2012-10-10 ENSG00000167861 ENSG00000167861 283987 15736 protein-coding gene gene with protein product downregulated in multiple cancer 1 605752 chromosome 17 open reading frame 28 C17orf28 NA 11281419, 21337012 Standard NM_030630 NM_030630 NA Approved DMC1, HID-1 uc002jmj.4 Q8IV36 OTTHUMG00000166490 ENST00000425042.2:c.1962G>A chr17.hg19:g.72949649C>T NA Q8N5L6|Q8TE83|Q9NT34 hg19 CCDS32726.1 0.02 1.760119 AGCxGGG COVERED NOVEL HID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390011.2 0 3.912147 KEEP 0 0 0 13 439 CC 0.994391 0.993881 0 - 6 60 195 0 0 13.022104 77 60 2760 106 ENST00000425042.2 0.072289 0.999487 HID1 283987 __UNKNOWN__ __UNKNOWN__ 17 72950472 72950472 __UNKNOWN__ Intron SNP G G A rs3816876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72950472G>A ENST00000425042.2 - 14 1714 NM_030630.2 NP_085133.1 Q8IV36 HID1_HUMAN HID1 domain containing NA NA intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001) cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138) NA TGTGGGCAGGGAGCATGCCTC 0.657 NA G||| 777 0.155152 0.0454 0.0879 5008 , , NA 16427 0.502 NA 0.0189 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 G 161,4199 2,157,2021 43 29 34 2.5 0 17 dbSNP_107 34 174,8344 1,172,4086 no intron C17orf28 NM_030630.2 3,329,6107 AA,AG,GG 2.0427,3.6927,2.6013 72950472 335,12543 2180 4259 6439 SO:0001627 intron_variant CCDS32726.1 17q25.1 2012-10-10 2012-10-10 2012-10-10 ENSG00000167861 ENSG00000167861 283987 15736 protein-coding gene gene with protein product downregulated in multiple cancer 1 605752 chromosome 17 open reading frame 28 C17orf28 NA 11281419, 21337012 Standard NM_030630 NM_030630 NA Approved DMC1, HID-1 uc002jmj.4 Q8IV36 OTTHUMG00000166490 ENST00000425042.2:c.1637-12C>T chr17.hg19:g.72950472G>A NA Q8N5L6|Q8TE83|Q9NT34 hg19 CCDS32726.1 0.02 2.065202 AGGxAGC COVERED NOVEL HID1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000390011.2 0 4.815265 KEEP 0 0 0 16 562 GG 0.997832 0.99539 0 - 7 60 248 0 0 18.215936 64 60 2379 106 ENST00000425042.2 0.098592 0.997553 CDR2L 30850 __UNKNOWN__ __UNKNOWN__ 17 72994803 72994803 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:72994803C>G ENST00000337231.5 + 2 491 NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like NA NA NA all_lung(278;0.226) gagaagttgacaggcacagac 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11710.2 17q25.1 2006-03-28 ENSG00000109089 ENSG00000109089 30850 29999 protein-coding gene gene with protein product paraneoplastic antigen NA Standard NM_014603 NM_014603 NA Approved HUMPPA uc002jml.4 Q86X02 OTTHUMG00000150435 ENST00000337231.5:c.80-796C>G chr17.hg19:g.72994803C>G NA B4DFA7|Q15175 hg19 CCDS11710.2 0.02 4.149504 TGAxAGG COVERED NOVEL CDR2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318080.1 0 6.018998 KEEP 0 0 0 20 678 CC 0.999863 0.99986 0 + 7 60 254 0 0 17.234623 110 60 4090 139 ENST00000337231.5 0.059829 0.999998 CDR2L 30850 __UNKNOWN__ __UNKNOWN__ 17 73001746 73001746 __UNKNOWN__ 3'UTR SNP A A T rs192319454|rs201402975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73001746A>T ENST00000337231.5 + 0 3387 NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like NA NA NA all_lung(278;0.226) GGAGTGTGGAAGGGTTGGGGG 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11710.2 17q25.1 2006-03-28 ENSG00000109089 ENSG00000109089 30850 29999 protein-coding gene gene with protein product paraneoplastic antigen NA Standard NM_014603 NM_014603 NA Approved HUMPPA uc002jml.4 Q86X02 OTTHUMG00000150435 ENST00000337231.5:c.*1577A>T chr17.hg19:g.73001746A>T NA B4DFA7|Q15175 hg19 CCDS11710.2 0.02 4.382466 GGAxGGG COVERED NOVEL CDR2L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318080.1 0 7.219567 KEEP 0 0 0 24 726 AA 0.999909 0.999909 0 + 7 60 223 0 0 13.790618 129 60 4565 195 ENST00000337231.5 0.051471 1 SLC16A5 9121 __UNKNOWN__ __UNKNOWN__ 17 73096951 73096951 __UNKNOWN__ Intron SNP A A G rs4238978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73096951A>G ENST00000450736.2 + 4 1568 SLC16A5_ENST00000329783.4_Intron|SLC16A5_ENST00000538213.2_Intron|SLC16A5_ENST00000580123.1_Intron O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 NA NA monocarboxylic acid transport (GO:0015718) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293) central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) TAGTGTGGTAAAAGGGGAACA 0.557 NA A||| 2459 0.491014 0.2239 0.5375 5008 , , NA 18288 0.7619 NA 0.5099 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 A 1115,3283 144,827,1228 21 18 19 -7.7 0 17 dbSNP_111 19 4469,4087 1185,2099,994 no intron SLC16A5 NM_004695.2 1329,2926,2222 GG,GA,AA 47.7676,25.3524,43.1064 73096951 5584,7370 2199 4278 6477 SO:0001627 intron_variant U59299 CCDS11713.1 17q25.1 2013-07-18 2013-07-18 ENSG00000170190 ENSG00000170190 9121 Solute carriers 10926 protein-coding gene gene with protein product 603879 solute carrier family 16 (monocarboxylic acid transporters), member 5, solute carrier family 16, member 5 (monocarboxylic acid transporter 6) NA 9425115 Standard NM_004695 NM_004695 NA Approved MCT5, MCT6 uc002jmr.4 O15375 OTTHUMG00000179277 ENST00000450736.2:c.1153+40A>G chr17.hg19:g.73096951A>G NA B4E288 hg19 CCDS11713.1 0.02 4.563317 GTAxAAG COVERED NOVEL SLC16A5-004 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445547.1 0 3.308157 KEEP 0 0 0 11 310 AA 0.993072 0.993054 0 + 6 60 223 0 0 15.204127 98 60 3417 117 ENST00000450736.2 0.057692 0.999981 NUP85 79902 __UNKNOWN__ __UNKNOWN__ 17 73230796 73230796 __UNKNOWN__ Silent SNP T T C rs35857535 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73230796T>C ENST00000579298.1 + 16 1587 c.1545T>C c.(1543-1545)ctT>ctC p.L515L NUP85_ENST00000447371.2_Silent_p.L392L|NUP85_ENST00000245544.4_Silent_p.L560L|NUP85_ENST00000540768.1_Silent_p.L163L|NUP85_ENST00000579324.1_Silent_p.L448L|NUP85_ENST00000541827.1_Silent_p.L514L Q9BW27 NUP85_HUMAN nucleoporin 85kDa 560 NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CTTCTCTCCTTCTGTCCTTGA 0.522 NA T||| 530 0.105831 0.2209 0.0692 5008 , , NA 20568 0.1002 NA 0.002 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 T 747,3659 306.9+/-289.7 73,601,1529 223 189 200 1680 -4.2 0.5 17 dbSNP_126 200 20,8580 13.3+/-46.6 0,20,4280 no coding-synonymous NUP85 NM_024844.3 73,621,5809 CC,CT,TT 0.2326,16.9542,5.8973 560/657 73230796 767,12239 2203 4300 6503 SO:0001819 synonymous_variant AF514995 CCDS32730.1 17q25 2006-11-29 2005-11-03 2005-11-03 ENSG00000125450 79902 8734 protein-coding gene gene with protein product 170285 NA 8124707 Standard NM_024844 XM_005257690 NA Approved NUP75, FLJ12549 uc002jng.1 Q9BW27 ENST00000579298.1:c.1545T>C chr17.hg19:g.73230796T>C NA B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1 hg19 0.02 13.218621 CCTxCTG COVERED NOVEL NUP85-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446625.1 0 28.581377 KEEP 0 0 0 95 2935 TT 1 1 0 + 14 60 498 0 0 31.157428 329 60 11880 523 ENST00000579298.1 0.040816 1 NUP85 79902 __UNKNOWN__ __UNKNOWN__ 17 73230963 73230963 __UNKNOWN__ Intron SNP G G A rs2291032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73230963G>A ENST00000579298.1 + 16 1674 NUP85_ENST00000447371.2_Missense_Mutation_p.R448H|NUP85_ENST00000245544.4_Intron|NUP85_ENST00000540768.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000541827.1_Intron Q9BW27 NUP85_HUMAN nucleoporin 85kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GCCGATGTGCGTGTTTCCTCC 0.498 NA G||| 564 0.11262 0.2458 0.0706 5008 , , NA 20038 0.1002 NA 0.002 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF514995 CCDS32730.1 17q25 2006-11-29 2005-11-03 2005-11-03 ENSG00000125450 79902 8734 protein-coding gene gene with protein product 170285 NA 8124707 Standard NM_024844 XM_005257690 NA Approved NUP75, FLJ12549 uc002jng.1 Q9BW27 ENST00000579298.1:c.1632+80G>A chr17.hg19:g.73230963G>A NA B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1 hg19 0.02 7.053645 TGCxTGT COVERED 204 0.09340659340659341 144 0.2926829268292683 25 0.06906077348066299 32 0.055944055944055944 3 0.00395778364116095 G 11.08 1.533830 0.27387 . . ENSG00000125450 ENST00000447371 . . . 3.59 -7.18 0.01505 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.33214 -0.9877 3 . . . . 2.0308 0.03529 0.281:0.2132:0.3764:0.1294 rs2291032;rs2291032 . . . H 448 . . R + 2 0 NUP85 70742558 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.840000 0.01684 -1.986000 0.00983 -0.448000 0.05591 CGT NOVEL NUP85-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446625.1 2 10.868668 KEEP 0 1 28 46 1581 GG 1 1 0 + 10 60 381 0 0 26.305854 162 60 5867 254 ENST00000579298.1 0.05814 1 NUP85 79902 __UNKNOWN__ __UNKNOWN__ 17 73231148 73231148 __UNKNOWN__ Intron SNP C C G rs73356305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73231148C>G ENST00000579298.1 + 17 1674 NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000245544.4_Intron|NUP85_ENST00000540768.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000541827.1_Intron Q9BW27 NUP85_HUMAN nucleoporin 85kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CCAACCAATGCAGGCCAGGGC 0.517 NA C||| 530 0.105831 0.2209 0.0692 5008 , , NA 21304 0.1002 NA 0.002 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 C 744,3662 301.8+/-287.1 73,598,1532 52 53 53 -1.6 0 17 dbSNP_130 53 20,8580 13.3+/-46.6 0,20,4280 no intron NUP85 NM_024844.3 73,618,5812 GG,GC,CC 0.2326,16.8861,5.8742 73231148 764,12242 2203 4300 6503 SO:0001627 intron_variant AF514995 CCDS32730.1 17q25 2006-11-29 2005-11-03 2005-11-03 ENSG00000125450 79902 8734 protein-coding gene gene with protein product 170285 NA 8124707 Standard NM_024844 XM_005257690 NA Approved NUP75, FLJ12549 uc002jng.1 Q9BW27 ENST00000579298.1:c.1633-47C>G chr17.hg19:g.73231148C>G NA B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1 hg19 0.02 1.449525 ATGxAGG COVERED NOVEL NUP85-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446625.1 0 3.611692 KEEP 0 0 0 12 414 CC 0.993634 0.993564 0 + 4 60 139 0 0 8.597004 92 60 3344 111 ENST00000579298.1 0.041667 0.99993 GGA3 23163 __UNKNOWN__ __UNKNOWN__ 17 73235728 73235728 __UNKNOWN__ Intron SNP C C T rs9902741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73235728C>T ENST00000582486.1 - 14 1623 GGA3_ENST00000578348.1_Intron|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000245541.6_Intron|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000582717.1_Intron NM_001172703.1 NP_001166174.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306) breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGCCCCTGACCATGCTCTTAC 0.592 NA C||| 846 0.16893 0.4486 0.0879 5008 , , NA 13991 0.1002 NA 0.003 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190864 CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1 17q25 2010-02-12 2010-02-12 ENSG00000125447 23163 17079 protein-coding gene gene with protein product 606006 NA 10747089, 10749927 Standard NM_138619 NR_033345 NA Approved KIAA0154 uc002jni.2 Q9NZ52 ENST00000582486.1:c.1368-76G>A chr17.hg19:g.73235728C>T NA B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3 hg19 0.02 2.299665 GACxATG COVERED NOVEL GGA3-006 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446649.1 1 2.708581 KEEP 0 0 0 9 303 CC 0.99254 0.98766 0 - 11 60 396 0 0 31.856873 56 60 2037 81 ENST00000582486.1 0.164179 0.995084 GGA3 23163 __UNKNOWN__ __UNKNOWN__ 17 73257813 73257813 __UNKNOWN__ Intron SNP G G T rs16967742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73257813G>T ENST00000582486.1 - 1 80 MRPS7_ENST00000245539.6_5'UTR|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000579743.1_Intron|MRPS7_ENST00000579761.1_5'UTR|GGA3_ENST00000245541.6_5'UTR|GGA3_ENST00000582717.1_Intron NM_001172703.1 NP_001166174.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 NA NA intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306) breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GGAGGGCAAGGGTTTCCTTTT 0.602 NA T||| 847 0.169129 0.4493 0.0908 5008 , , NA 15919 0.0992 NA 0.003 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190864 CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1 17q25 2010-02-12 2010-02-12 ENSG00000125447 23163 17079 protein-coding gene gene with protein product 606006 NA 10747089, 10749927 Standard NM_138619 NR_033345 NA Approved KIAA0154 uc002jni.2 Q9NZ52 ENST00000582486.1:c.175+549C>A chr17.hg19:g.73257813G>T NA B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3 hg19 0.02 4.464464 AAGxGTT COVERED NOVEL GGA3-006 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446649.1 0 26.783712 KEEP 0 0 0 89 3045 GG 1 1 0 - 11 60 369 0 0 25.495932 127 60 4493 262 ENST00000582486.1 0.07971 1 MIF4GD 57409 __UNKNOWN__ __UNKNOWN__ 17 73262615 73262615 __UNKNOWN__ 3'UTR SNP G G A rs16967764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73262615G>A ENST00000325102.8 - 0 999 MIF4GD_ENST00000577542.1_3'UTR|MIF4GD_ENST00000580571.1_3'UTR|MIF4GD_ENST00000245551.5_3'UTR|MIF4GD_ENST00000579297.1_3'UTR NM_001242501.1 NP_001229430.1 A9UHW6 MI4GD_HUMAN MIF4G domain containing NA NA regulation of translation (GO:0006417) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CTGCCTGGCCGTGGTGGGTTG 0.532 NA C||| 519 0.103634 0.2148 0.072 5008 , , NA 18685 0.0992 NA 0.001 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CR605810 CCDS11719.1, CCDS56044.1, CCDS58598.1 17q25.1 2005-12-15 2005-12-15 57409 24030 protein-coding gene gene with protein product 612072 MIFD NA Standard NM_020679 NM_001242498 NA Approved AD023, MGC45027 uc002jnq.3 A9UHW6 ENST00000325102.8:c.*206C>T chr17.hg19:g.73262615G>A NA B4DUM7|Q8N4Q5|Q9HBL5 hg19 CCDS56044.1 0.02 8.986452 GCCxTGG COVERED NOVEL MIF4GD-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446671.1 2 18.358029 KEEP 0 0 0 61 2084 GG 1 1 0 - 14 70 519 0 0 35.845251 210 60 7143 351 ENST00000325102.8 0.0625 1 MIF4GD 57409 __UNKNOWN__ __UNKNOWN__ 17 73264082 73264082 __UNKNOWN__ Intron SNP C C T rs73356374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73264082C>T ENST00000578305.1 - 3 189 MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000577542.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000245551.5_Intron|MIF4GD_ENST00000579297.1_Intron A9UHW6 MI4GD_HUMAN MIF4G domain containing NA NA regulation of translation (GO:0006417) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) CCCTGTGCATCTCTGTCCTGC 0.597 NA C||| 804 0.160543 0.4221 0.0893 5008 , , NA 20495 0.0992 NA 0.002 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR605810 CCDS11719.1, CCDS56044.1, CCDS58598.1 17q25.1 2005-12-15 2005-12-15 57409 24030 protein-coding gene gene with protein product 612072 MIFD NA Standard NM_020679 NM_001242498 NA Approved AD023, MGC45027 uc002jnq.3 A9UHW6 ENST00000578305.1:c.83-371G>A chr17.hg19:g.73264082C>T NA B4DUM7|Q8N4Q5|Q9HBL5 hg19 0.02 -0.421115 CATxTCT COVERED NOVEL MIF4GD-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446677.1 0 3.008656 KEEP 0 0 0 10 324 CC 0.992708 0.941486 0 - 4 60 146 0 0 10.530339 44 60 1646 62 ENST00000578305.1 0.083333 0.948402 MIF4GD 57409 __UNKNOWN__ __UNKNOWN__ 17 73265607 73265607 __UNKNOWN__ Intron SNP T T C rs73356377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73265607T>C ENST00000578305.1 - 2 189 MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000577542.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000245551.5_Intron|MIF4GD_ENST00000579297.1_Intron A9UHW6 MI4GD_HUMAN MIF4G domain containing NA NA regulation of translation (GO:0006417) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) GCAGGAGCCGTGTTCTTTTTT 0.428 NA T||| 523 0.104433 0.2156 0.072 5008 , , NA 13978 0.0992 NA 0.001 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CR605810 CCDS11719.1, CCDS56044.1, CCDS58598.1 17q25.1 2005-12-15 2005-12-15 57409 24030 protein-coding gene gene with protein product 612072 MIFD NA Standard NM_020679 NM_001242498 NA Approved AD023, MGC45027 uc002jnq.3 A9UHW6 ENST00000578305.1:c.82+587A>G chr17.hg19:g.73265607T>C NA B4DUM7|Q8N4Q5|Q9HBL5 hg19 0.02 2.107349 CCGxGTT COVERED NOVEL MIF4GD-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446677.1 6 18.04927 KEEP 0 0 0 60 1782 TT 1 0.998993 0 - 6 60 164 0 0 10.384734 72 60 2342 188 ENST00000578305.1 0.076923 0.998993 MIF4GD 57409 __UNKNOWN__ __UNKNOWN__ 17 73266180 73266180 __UNKNOWN__ Intron SNP G G C rs3744232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73266180G>C ENST00000578305.1 - 2 189 MIF4GD_ENST00000325102.8_Intron|MIF4GD_ENST00000577542.1_Intron|MIF4GD_ENST00000579119.1_Intron|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000245551.5_Intron|MIF4GD_ENST00000579297.1_Intron A9UHW6 MI4GD_HUMAN MIF4G domain containing NA NA regulation of translation (GO:0006417) cytoplasm (GO:0005737)|nucleolus (GO:0005730) protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) AGCTCAGGAGGGGTCCCGTGC 0.592 NA G||| 523 0.104433 0.2156 0.072 5008 , , NA 16715 0.0992 NA 0.001 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 G ,,, 688,3718 288.1+/-279.7 62,564,1577 141 149 146 ,,, 0.8 0 17 dbSNP_107 146 24,8576 16.0+/-53.3 0,24,4276 no intron,intron,intron,intron MIF4GD NM_001242498.1,NM_001242500.1,NM_001242501.1,NM_020679.3 ,,, 62,588,5853 CC,CG,GG 0.2791,15.6151,5.4744 ,,, ,,, 73266180 712,12294 2203 4300 6503 SO:0001627 intron_variant CR605810 CCDS11719.1, CCDS56044.1, CCDS58598.1 17q25.1 2005-12-15 2005-12-15 57409 24030 protein-coding gene gene with protein product 612072 MIFD NA Standard NM_020679 NM_001242498 NA Approved AD023, MGC45027 uc002jnq.3 A9UHW6 ENST00000578305.1:c.82+14C>G chr17.hg19:g.73266180G>C NA B4DUM7|Q8N4Q5|Q9HBL5 hg19 0.02 11.98322 GAGxGGT COVERED NOVEL MIF4GD-014 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446677.1 1 31.899995 KEEP 0 0 0 106 3677 GG 1 1 0 - 17 60 611 0 0 42.050591 240 60 8740 442 ENST00000578305.1 0.066148 1 KIAA0195 9772 __UNKNOWN__ __UNKNOWN__ 17 73484694 73484694 __UNKNOWN__ Intron SNP C C T rs56323400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73484694C>T ENST00000314256.7 + 7 1006 KIAA0195_ENST00000375248.5_Intron|KIAA0195_ENST00000583795.1_Intron|KIAA0195_ENST00000579208.1_Intron NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCTAAAAGTCTAGTCCCACA 0.547 NA C||| 697 0.139177 0.3253 0.0706 5008 , , NA 16876 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32732.1 17q25.1 2012-03-01 ENSG00000177728 ENSG00000177728 9772 28983 protein-coding gene gene with protein product NA 8724849 Standard NM_014738 NM_014738 NA Approved TMEM94 uc002jnz.4 Q12767 ENST00000314256.7:c.613-146C>T chr17.hg19:g.73484694C>T NA O75536|Q86XF1 hg19 CCDS32732.1 0.02 -0.429558 AGTxTAG COVERED NOVEL KIAA0195-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447303.1 1 4.815452 KEEP 0 0 0 16 544 CC 0.997832 0.952421 0 + 5 60 177 0 0 13.075988 44 60 1617 71 ENST00000314256.7 0.102041 0.954491 KIAA0195 9772 __UNKNOWN__ __UNKNOWN__ 17 73487731 73487731 __UNKNOWN__ Intron SNP G G A rs76509117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73487731G>A ENST00000314256.7 + 14 1780 KIAA0195_ENST00000375248.5_Intron|KIAA0195_ENST00000579208.1_Intron NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCAGGCCATGGGAGCCACTG 0.597 NA G||| 336 0.0670927 0.0719 0.0432 5008 , , NA 19749 0.0873 NA 0.0765 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 G 317,4089 168.7+/-199.5 10,297,1896 46 48 47 2.8 0 17 dbSNP_132 47 483,8117 139.2+/-195.9 10,463,3827 no intron KIAA0195 NM_014738.4 20,760,5723 AA,AG,GG 5.6163,7.1947,6.151 73487731 800,12206 2203 4300 6503 SO:0001627 intron_variant CCDS32732.1 17q25.1 2012-03-01 ENSG00000177728 ENSG00000177728 9772 28983 protein-coding gene gene with protein product NA 8724849 Standard NM_014738 NM_014738 NA Approved TMEM94 uc002jnz.4 Q12767 ENST00000314256.7:c.1387-41G>A chr17.hg19:g.73487731G>A NA O75536|Q86XF1 hg19 CCDS32732.1 0.02 8.699194 CATxGGA COVERED NOVEL KIAA0195-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447303.1 0 14.145745 KEEP 0 0 0 47 1659 GG 1 1 0 + 22 60 751 0 0 53.939199 212 60 8020 335 ENST00000314256.7 0.094017 1 KIAA0195 9772 __UNKNOWN__ __UNKNOWN__ 17 73492351 73492351 __UNKNOWN__ Intron SNP C C A rs78549838 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73492351C>A ENST00000314256.7 + 24 3447 KIAA0195_ENST00000375248.5_Intron|KIAA0195_ENST00000579208.1_Intron NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 NA NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GTGTGTCCCCCACCCTGAGCA 0.637 NA C||| 148 0.0295527 0.0242 0.0043 5008 , , NA 19877 0.0863 NA 0.0 False NA ,,, NA NA NA 2504 0.0266 NA NA NA NA 0 C 104,4302 82.4+/-120.9 1,102,2100 127 98 108 -2.2 0 17 dbSNP_132 108 3,8597 3.0+/-9.4 0,3,4297 no intron KIAA0195 NM_014738.4 1,105,6397 AA,AC,CC 0.0349,2.3604,0.8227 73492351 107,12899 2203 4300 6503 SO:0001627 intron_variant CCDS32732.1 17q25.1 2012-03-01 ENSG00000177728 ENSG00000177728 9772 28983 protein-coding gene gene with protein product NA 8724849 Standard NM_014738 NM_014738 NA Approved TMEM94 uc002jnz.4 Q12767 ENST00000314256.7:c.3054-12C>A chr17.hg19:g.73492351C>A NA O75536|Q86XF1 hg19 CCDS32732.1 0.02 15.531852 CCCxACC COVERED NOVEL KIAA0195-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447303.1 3 16.553276 KEEP 0 0 0 55 1932 CC 1 1 0 + 19 60 691 1 0 45.809069 344 60 12484 512 ENST00000314256.7 0.052342 1 CASKIN2 57513 __UNKNOWN__ __UNKNOWN__ 17 73497272 73497272 __UNKNOWN__ Intron SNP C C T rs76518474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73497272C>T ENST00000321617.3 - 20 4105 CASKIN2_ENST00000433559.2_Intron NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 NA NA cytoplasm (GO:0005737) endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGAAGGATGCGGTCAGATCA 0.652 NA C||| 315 0.0628994 0.0635 0.0346 5008 , , NA 18646 0.0853 NA 0.0746 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 C , 284,4090 11,262,1914 70 49 56 , -5.9 0 17 dbSNP_132 56 480,8094 12,456,3819 no intron,intron CASKIN2 NM_001142643.1,NM_020753.3 , 23,718,5733 TT,TC,CC 5.5983,6.4929,5.9005 , , 73497272 764,12184 2187 4287 6474 SO:0001627 intron_variant AB032965 CCDS11723.1, CCDS45775.1 17q25.1 2014-09-04 ENSG00000177303 ENSG00000177303 57513 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 18200 protein-coding gene gene with protein product 612185 NA 12040031 Standard NM_020753 NM_020753 NA Approved KIAA1139, FLJ21609, ANKS5B uc002joc.4 Q8WXE0 OTTHUMG00000179683 ENST00000321617.3:c.3519-21G>A chr17.hg19:g.73497272C>T NA B4DTT3|B7Z9H1|Q7LG69|Q9ULT1 hg19 CCDS11723.1 0.02 3.892003 ATGxGGT COVERED NOVEL CASKIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447609.1 0 14.744304 KEEP 0 0 0 49 1631 CC 1 1 0 - 7 60 248 0 0 16.188701 128 60 4400 233 ENST00000321617.3 0.051852 1 CASKIN2 57513 __UNKNOWN__ __UNKNOWN__ 17 73499324 73499324 __UNKNOWN__ Missense_Mutation SNP T T G rs560843230 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73499324T>G ENST00000321617.3 - 18 2417 c.1831A>C c.(1831-1833)Aag>Cag p.K611Q CASKIN2_ENST00000433559.2_Missense_Mutation_p.K529Q NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 611 SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}. NA cytoplasm (GO:0005737) endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCATGAGCTTCTTCTGATGC 0.677 NA T||| 1 0.000199681 0.0 0.0 5008 , , NA 16421 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 11 13 12 NA NA 17 NA 73499324 2042 4057 6099 SO:0001583 missense AB032965 CCDS11723.1, CCDS45775.1 17q25.1 2014-09-04 ENSG00000177303 ENSG00000177303 57513 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 18200 protein-coding gene gene with protein product 612185 NA 12040031 Standard NM_020753 NM_020753 NA Approved KIAA1139, FLJ21609, ANKS5B uc002joc.4 Q8WXE0 OTTHUMG00000179683 ENST00000321617.3:c.1831A>C chr17.hg19:g.73499324T>G ENSP00000325355:p.Lys611Gln NA B4DTT3|B7Z9H1|Q7LG69|Q9ULT1 hg19 CCDS11723.1 0.02 6.824258 GCTxCTT COVERED . . . . . . . . . . T 22.0 4.226669 0.79576 . . ENSG00000177303 ENST00000321617;ENST00000433559 T;T 0.62232 0.04;0.04 5.06 5.06 0.68205 Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1); 0.000000 0.47093 D 0.000253 T 0.73313 0.3571 M 0.88775 2.98 0.80722 D 1 D 0.56746 0.977 P 0.49528 0.614 T 0.79904 -0.1606 10 0.87932 D 0 . 12.0502 0.53503 0.0:0.0:0.1436:0.8564 . 611 Q8WXE0 CSKI2_HUMAN Q 611;529 ENSP00000325355:K611Q;ENSP00000406963:K529Q ENSP00000325355:K611Q K - 1 0 CASKIN2 71010919 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.167000 0.71902 1.892000 0.54788 0.533000 0.62120 AAG NOVEL CASKIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447609.1 2 15.341493 KEEP 0 0 0 51 1550 TT 1 1 0 - 8 60 308 0 0 20.80383 153 60 5423 247 ENST00000321617.3 0.049689 1 TSEN54 283989 __UNKNOWN__ __UNKNOWN__ 17 73517426 73517426 __UNKNOWN__ Intron SNP A A G rs145821642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73517426A>G ENST00000333213.6 + 7 557 TSEN54_ENST00000580013.1_Intron NM_207346.2 NP_997229.2 Q7Z6J9 SEN54_HUMAN TSEN54 tRNA splicing endonuclease subunit NA NA mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) nucleus (GO:0005634) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2) 13 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCCTTACACATCCCACCAGA 0.617 NA A||| 175 0.0349441 0.0197 0.0043 5008 , , NA 16322 0.0923 NA 0.0 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097583 CCDS11724.1 17q25.1 2013-08-06 2013-08-06 ENSG00000182173 ENSG00000182173 283989 tRNA splicing endonuclease subunits 27561 protein-coding gene gene with protein product 608755 tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae), tRNA splicing endonuclease 54 homolog (S. cerevisiae) NA 15109492 Standard NM_207346 NM_207346 NA Approved SEN54, SEN54L uc002jof.1 Q7Z6J9 ENST00000333213.6:c.522-64A>G chr17.hg19:g.73517426A>G NA Q86WV3|Q86XE4|Q8N9H2 hg19 CCDS11724.1 0.02 2.095074 CACxTCC COVERED NOVEL TSEN54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447618.1 0 6.017937 KEEP 0 0 0 20 622 AA 0.999863 0.998973 0 + 5 60 170 0 0 11.323872 73 60 2653 102 ENST00000333213.6 0.064103 0.99911 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73554186 73554186 __UNKNOWN__ Intron SNP G G C rs77958196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73554186G>C ENST00000392550.3 + 4 290 LLGL2_ENST00000375227.4_Intron|LLGL2_ENST00000578363.1_Intron|LLGL2_ENST00000577200.1_Intron|LLGL2_ENST00000167462.5_Intron NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ACTCAAGGCAGGCAGGGGATG 0.637 NA G||| 186 0.0371406 0.0023 0.0245 5008 , , NA 20490 0.1022 NA 0.0388 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 G ,, 28,4378 34.3+/-65.2 0,28,2175 86 82 84 ,, 0 0 17 dbSNP_131 84 300,8300 109.6+/-170.1 7,286,4007 no intron,intron,intron LLGL2 NM_001015002.1,NM_001031803.1,NM_004524.2 ,, 7,314,6182 CC,CG,GG 3.4884,0.6355,2.5219 ,, ,, 73554186 328,12678 2203 4300 6503 SO:0001627 intron_variant X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.174-50G>C chr17.hg19:g.73554186G>C NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 18.543348 GCAxGCA COVERED 83 0.038003663003663 2 0.0040650406504065045 12 0.03314917127071823 40 0.06993006993006994 29 0.03825857519788918 G 4.575 0.106751 0.08780 0.006355 0.034884 ENSG00000073350 ENST00000545227 . . . 3.17 -0.0194 0.13960 . . . . . T 0.02193 0.0068 . . . 0.09310 N 0.999998 B 0.06786 0.001 B 0.11329 0.006 T 0.13469 -1.0508 7 0.66056 D 0.02 . 5.0815 0.14659 0.2153:0.1738:0.6108:0.0 . 31 G3V1I9 . R 31 . ENSP00000439521:G31R G + 1 0 LLGL2 71065781 0.004000 0.15560 0.004000 0.12327 0.012000 0.07955 1.251000 0.32862 0.053000 0.16036 -0.163000 0.13421 GGC NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 2 25.584036 KEEP 0 0 0 85 3103 GG 1 1 0 + 27 60 984 0 0 67.863193 390 60 14868 635 ENST00000392550.3 0.064748 1 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73564968 73564968 __UNKNOWN__ Intron SNP G G A rs77637305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73564968G>A ENST00000392550.3 + 12 1439 LLGL2_ENST00000577200.1_Intron|LLGL2_ENST00000167462.5_Intron NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GGATATGTGGGGTGGGAGCAG 0.662 NA G||| 430 0.0858626 0.1127 0.0648 5008 , , NA 15575 0.1131 NA 0.0895 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 G , 444,3960 26,392,1784 25 28 27 , 3.2 0 17 dbSNP_131 27 747,7849 37,673,3588 no intron,intron LLGL2 NM_001031803.1,NM_004524.2 , 63,1065,5372 AA,AG,GG 8.6901,10.0817,9.1615 , , 73564968 1191,11809 2202 4298 6500 SO:0001627 intron_variant X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.1322+48G>A chr17.hg19:g.73564968G>A NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 10.377961 TGGxGTG COVERED NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 6 10.533811 KEEP 0 0 0 35 1208 GG 0.999999 0.999999 0 + 16 60 529 0 0 34.194677 265 60 9364 360 ENST00000392550.3 0.05694 1 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73565171 73565171 __UNKNOWN__ Missense_Mutation SNP T T C rs1671021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73565171T>C ENST00000392550.3 + 13 1552 c.1435T>C c.(1435-1437)Ttc>Ctc p.F479L LLGL2_ENST00000577200.1_Missense_Mutation_p.F479L|LLGL2_ENST00000167462.5_Missense_Mutation_p.F479L NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 479 NA F -> L (in dbSNP:rs1671021). {ECO:0000269|PubMed:15489334}. cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CAACGAGAACTTCAGTGCCCA 0.667 NA C||| 2328 0.464856 0.907 0.3372 5008 , , NA 17795 0.2639 NA 0.3738 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 C LEU/PHE,LEU/PHE 3630,776 303.5+/-288.0 1501,628,74 45 44 45 1435,1435 4.3 0.9 17 dbSNP_89 45 3320,5280 632.4+/-398.6 673,1974,1653 yes missense,missense LLGL2 NM_001031803.1,NM_004524.2 22,22 2174,2602,1727 CC,CT,TT 38.6047,17.6123,46.5631 benign,benign 479/1021,479/1016 73565171 6950,6056 2203 4300 6503 SO:0001583 missense X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.1435T>C chr17.hg19:g.73565171T>C ENSP00000376333:p.Phe479Leu NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 19.052672 AACxTCA COVERED 982 0.44963369963369965 442 0.8983739837398373 128 0.35359116022099446 125 0.21853146853146854 287 0.3786279683377309 C 10.65 1.409361 0.25378 0.823877 0.386047 ENSG00000073350 ENST00000167462;ENST00000392550;ENST00000545227 T;T 0.09538 2.97;2.97 5.29 4.33 0.51752 WD40 repeat-like-containing domain (1); 0.192645 0.49916 N 0.000140 T 0.00012 0.0000 N 0.01267 -0.92 0.46542 P 9.050000000000447E-4 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.23476 -1.0187 9 0.18710 T 0.47 -3.4459 2.7305 0.05226 0.1772:0.5462:0.1184:0.1582 rs1671021;rs17492156;rs17855940;rs61228063;rs1671021 468;468;479;479 B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3 .;.;.;L2GL2_HUMAN L 479;479;468 ENSP00000167462:F479L;ENSP00000376333:F479L ENSP00000167462:F479L F + 1 0 LLGL2 71076766 1.000000 0.71417 0.896000 0.35187 0.404000 0.30871 2.038000 0.41184 0.637000 0.30526 -0.222000 0.12452 TTC NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 1 28.117372 KEEP 0 1 39 107 3362 TT 1 1 0 + 19 60 720 0 0 46.897161 431 60 15765 717 ENST00000392550.3 0.042222 1 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73565449 73565449 __UNKNOWN__ Intron SNP C C T rs80037708 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73565449C>T ENST00000392550.3 + 14 1698 LLGL2_ENST00000577200.1_Intron|LLGL2_ENST00000167462.5_Intron NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GAGGAGTGGTCGATGACTGGG 0.622 NA C||| 414 0.0826677 0.1014 0.0634 5008 , , NA 14430 0.1131 NA 0.0895 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 C , 380,4026 20,340,1843 18 19 19 , -7.9 0 17 dbSNP_131 19 735,7857 34,667,3595 no intron,intron LLGL2 NM_001031803.1,NM_004524.2 , 54,1007,5438 TT,TC,CC 8.5545,8.6246,8.5782 , , 73565449 1115,11883 2203 4296 6499 SO:0001627 intron_variant X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.1581+43C>T chr17.hg19:g.73565449C>T NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 4.519191 GGTxGAT COVERED NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 1 6.002855 KEEP 0 0 0 20 630 CC 0.999863 0.999855 0 + 11 60 403 0 0 30.067715 98 60 3186 136 ENST00000392550.3 0.100917 0.999992 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73570814 73570814 __UNKNOWN__ Intron SNP G G A rs75864371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73570814G>A ENST00000392550.3 + 25 3172 LLGL2_ENST00000577200.1_Intron|LLGL2_ENST00000167462.5_Intron NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GAAGAGCCCCGGCCCCACTCC 0.706 NA G||| 413 0.0824681 0.1021 0.0634 5008 , , NA 15625 0.1111 NA 0.0895 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 G , 140,1244 10,120,562 34 37 36 , -3.2 0 17 dbSNP_131 36 263,2919 12,239,1340 no intron,intron LLGL2 NM_001031803.1,NM_004524.2 , 22,359,1902 AA,AG,GG 8.2652,10.1156,8.8261 , , 73570814 403,4163 692 1591 2283 SO:0001627 intron_variant X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.3055+65G>A chr17.hg19:g.73570814G>A NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 4.591254 CCCxGCC COVERED NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 0 7.522262 KEEP 0 0 0 25 831 GG 0.999931 0.999931 0 + 12 60 443 0 0 32.527042 121 60 4030 180 ENST00000392550.3 0.090226 1 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73570842 73570842 __UNKNOWN__ Intron SNP T T C rs35199943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73570842T>C ENST00000392550.3 + 25 3172 LLGL2_ENST00000577200.1_Intron|LLGL2_ENST00000167462.5_Intron NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCCACGGGGCTGACACGTGCC 0.687 NA T||| 837 0.167133 0.2042 0.1628 5008 , , NA 16015 0.1111 NA 0.2744 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.3055+93T>C chr17.hg19:g.73570842T>C NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 6.874897 GGCxGAC COVERED NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 1 6.246262 KEEP 0 1 35 33 1015 TT 0.999998 0.999998 0 + 8 60 284 0 0 18.073593 169 60 6177 233 ENST00000392550.3 0.045198 1 LLGL2 3993 __UNKNOWN__ __UNKNOWN__ 17 73570915 73570915 __UNKNOWN__ Intron SNP C C T rs75909267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73570915C>T ENST00000392550.3 + 26 3172 LLGL2_ENST00000577200.1_Intron|LLGL2_ENST00000167462.5_Intron NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) NA NA cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878) cytoplasm (GO:0005737) PDZ domain binding (GO:0030165) NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCCGTCCTGCCCAGGGTGATC 0.647 NA C||| 277 0.0553115 0.0053 0.0519 5008 , , NA 16661 0.1111 NA 0.0895 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 C , 82,4324 69.8+/-107.6 0,82,2121 82 78 80 , -0.2 0 17 dbSNP_131 80 761,7839 181.6+/-230.3 36,689,3575 no intron,intron LLGL2 NM_001031803.1,NM_004524.2 , 36,771,5696 TT,TC,CC 8.8488,1.8611,6.4816 , , 73570915 843,12163 2203 4300 6503 SO:0001627 intron_variant X87342 CCDS11725.1, CCDS32733.1, CCDS45776.1 17q25.1 2013-01-10 2001-11-28 ENSG00000073350 3993 WD repeat domain containing 6629 protein-coding gene gene with protein product lethal giant larvae (Drosophila) homolog 2 NA Standard NM_004524 XR_243659 NA Approved HGL uc002joh.3 Q6P1M3 ENST00000392550.3:c.3056-37C>T chr17.hg19:g.73570915C>T NA Q14521|Q9BR62 hg19 CCDS32733.1 0.02 13.589354 TGCxCAG COVERED NOVEL LLGL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000447633.1 0 19.864769 KEEP 0 0 0 66 2357 CC 1 1 0 + 11 60 351 0 0 19.906002 298 60 11255 498 ENST00000392550.3 0.035599 1 MYO15B 80022 __UNKNOWN__ __UNKNOWN__ 17 73587268 73587268 __UNKNOWN__ 3'UTR SNP C C T rs2290455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73587268C>T ENST00000578382.2 + 0 2202 NR_003587.2 Q96JP2 MY15B_HUMAN myosin XVB pseudogene NA NA cytoplasm (GO:0005737)|myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) NA TCTTTGCCATCGTGGCATCAG 0.607 NA C||| 794 0.158546 0.0265 0.1628 5008 , , NA 19048 0.246 NA 0.2356 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 17q25.1 2014-07-16 ENSG00000266714 ENSG00000266714 80022 Myosins / Myosin superfamily : Class XV 14083 pseudogene pseudogene NA 11294886 Standard NR_003587 NR_003587 NA Approved MYO15BP uc002jon.1 Q96JP2 OTTHUMG00000179794 ENST00000578382.2:c.*2199C>T chr17.hg19:g.73587268C>T NA hg19 0.02 16.581249 CATxGTG COVERED NOVEL MYO15B-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000448172.2 0 25.580065 KEEP 0 0 0 85 2885 CC 1 1 0 + 23 60 863 0 0 60.23232 334 60 12040 571 ENST00000578382.2 0.064426 1 MYO15B 80022 __UNKNOWN__ __UNKNOWN__ 17 73587347 73587347 __UNKNOWN__ Intron SNP G G A rs11656113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73587347G>A ENST00000578382.2 + 2 2261 NR_003587.2 Q96JP2 MY15B_HUMAN myosin XVB pseudogene NA NA cytoplasm (GO:0005737)|myosin complex (GO:0016459) ATP binding (GO:0005524)|motor activity (GO:0003774) NA GGCCTTCCTGGGTGGCTGAAC 0.592 NA A||| 899 0.179513 0.0499 0.183 5008 , , NA 17471 0.2688 NA 0.2634 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 17q25.1 2014-07-16 ENSG00000266714 ENSG00000266714 80022 Myosins / Myosin superfamily : Class XV 14083 pseudogene pseudogene NA 11294886 Standard NR_003587 NR_003587 NA Approved MYO15BP uc002jon.1 Q96JP2 OTTHUMG00000179794 ENST00000578382.2:c.2261+20G>A chr17.hg19:g.73587347G>A NA hg19 0.02 8.845837 CTGxGTG COVERED NOVEL MYO15B-001 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000448172.2 0 9.373453 KEEP 0 1 13 36 1245 GG 1 1 0 + 14 60 523 0 0 35.811216 226 60 8135 323 ENST00000578382.2 0.058333 1 H3F3B 3021 __UNKNOWN__ __UNKNOWN__ 17 73774841 73774841 __UNKNOWN__ Intron SNP G G A rs2071654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73774841G>A ENST00000254810.4 - 4 415 H3F3B_ENST00000592643.1_Intron|H3F3B_ENST00000586607.1_Intron|H3F3B_ENST00000589599.1_Intron|H3F3B_ENST00000587560.1_Intron|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000591890.1_Intron NM_005324.3 NP_005315.1 P84243 H33_HUMAN H3 histone, family 3B (H3.3B) NA NA blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980) large_intestine(1)|lung(4)|ovary(2)|skin(1) 8 all_cancers(13;1.5e-07) all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) AATCCCACTCGGGGAGCGGAA 0.592 NA OREG0024740 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 544 0.108626 0.0408 0.0605 5008 , , NA 16697 0.3482 NA 0.0338 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G 181,4225 116.3+/-154.2 4,173,2026 57 60 59 -5 0 17 dbSNP_96 59 245,8355 97.0+/-158.7 4,237,4059 no intron H3F3B NM_005324.3 8,410,6085 AA,AG,GG 2.8488,4.108,3.2754 73774841 426,12580 2203 4300 6503 SO:0001627 intron_variant Z48950 CCDS11729.1 17q25.1 2011-06-01 ENSG00000132475 ENSG00000132475 3021 Histones / Replication-independent 4765 protein-coding gene gene with protein product 601058 NA 8586426 Standard NM_005324 NM_005324 NA Approved H3.3B uc002jpl.3 P84243 ENST00000254810.4:c.283-37C>T chr17.hg19:g.73774841G>A 1147 P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4 hg19 CCDS11729.1 0.02 13.81659 CTCxGGG COVERED NOVEL H3F3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448499.1 2 83.365419 KEEP 0 0 0 277 9613 GG 1 1 0 - 18 60 677 0 0 45.648427 325 60 11549 805 ENST00000254810.4 0.052478 1 UNK 85451 __UNKNOWN__ __UNKNOWN__ 17 73819525 73819525 __UNKNOWN__ Silent SNP C C T rs8078208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73819525C>T ENST00000589666.1 + 15 2309 c.2199C>T c.(2197-2199)tcC>tcT p.S733S UNK_ENST00000293218.3_Silent_p.S809S NM_001080419.2 NP_001073888.2 Q9C0B0 UNK_HUMAN unkempt family zinc finger 733 NA poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGCCTTCTCCGACCTGGAGG 0.667 NA C||| 2036 0.40655 0.7579 0.2622 5008 , , NA 15101 0.4226 NA 0.2266 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C 2510,1374 837,836,269 10 14 13 2199 -9.2 0 17 dbSNP_116 13 1830,6388 229,1372,2508 no coding-synonymous UNK NM_001080419.2 1066,2208,2777 TT,TC,CC 22.2682,35.3759,35.8618 733/811 73819525 4340,7762 1942 4109 6051 SO:0001819 synonymous_variant AB051540 CCDS45778.1, CCDS45778.2 17q25.3 2013-10-17 2013-10-17 2007-02-06 ENSG00000132478 85451 Zinc fingers, CCCH-type domain containing 29369 protein-coding gene gene with protein product zinc finger CCCH-type domain containing 5, zinc finger CCCH-type containing 5, unkempt homolog (Drosophila) ZC3HDC5, ZC3H5 NA 11214970 Standard NM_001080419 NM_001080419 NA Approved KIAA1753 uc021udd.2 Q9C0B0 ENST00000589666.1:c.2199C>T chr17.hg19:g.73819525C>T NA hg19 CCDS45778.2 0.02 8.565555 CTCxGAC COVERED NOVEL UNK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448835.1 4 28.591602 KEEP 0 0 0 95 3300 CC 1 1 0 + 12 60 438 0 0 29.429608 203 60 7315 444 ENST00000589666.1 0.055814 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73824121 73824121 __UNKNOWN__ Silent SNP T T C rs7210574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73824121T>C ENST00000207549.4 - 32 3577 c.3198A>G c.(3196-3198)gaA>gaG p.E1066E UNC13D_ENST00000412096.2_Silent_p.E1066E NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 1066 NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AGACCTGGGCTTCTCGGTCAC 0.687 NA Familial Hemophagocytic Lymphohistiocytosis C||| 2635 0.526158 0.9614 0.3372 5008 , , NA 16424 0.4365 NA 0.34 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 C 3743,623 1625,493,65 13 15 14 3198 3 1 17 dbSNP_116 14 2977,5593 561,1855,1869 no coding-synonymous UNC13D NM_199242.2 2186,2348,1934 CC,CT,TT 34.7375,14.2694,48.0519 1066/1091 73824121 6720,6216 2183 4285 6468 SO:0001819 synonymous_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.3198A>G chr17.hg19:g.73824121T>C NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 2.071611 GGCxTCT COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 0 16.802538 KEEP 0 0 0 56 1693 TT 1 0.999895 0 - 7 60 259 0 0 18.456171 86 60 3107 186 ENST00000207549.4 0.075269 0.999895 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73826611 73826611 __UNKNOWN__ Intron SNP G G A rs2290768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73826611G>A ENST00000207549.4 - 28 3089 UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) NA NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) AGCGGGAGCGGGGTGCTCCAG 0.677 NA Familial Hemophagocytic Lymphohistiocytosis OREG0024741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1267 0.252995 0.4871 0.1383 5008 , , NA 16553 0.3095 NA 0.0696 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 A 1772,2596 352,1068,764 28 28 28 -3.6 0 17 dbSNP_100 28 636,7928 21,594,3667 no intron UNC13D NM_199242.2 373,1662,4431 AA,AG,GG 7.4264,40.5678,18.6205 73826611 2408,10524 2184 4282 6466 SO:0001627 intron_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.2709+47C>T chr17.hg19:g.73826611G>A 1148 B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 4.552107 GCGxGGT COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 1 18.356143 KEEP 0 0 0 61 2140 GG 1 1 0 - 6 60 217 0 0 14.049495 122 60 4541 246 ENST00000207549.4 0.046875 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73827205 73827205 __UNKNOWN__ Missense_Mutation SNP T T C rs1135688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73827205T>C ENST00000207549.4 - 27 2978 c.2599A>G c.(2599-2601)Aag>Gag p.K867E UNC13D_ENST00000412096.2_Missense_Mutation_p.K867E NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 867 MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}. NA K -> E (in dbSNP:rs1135688). defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TGCAGGGCCTTGGGTGGCAGG 0.612 NA Familial Hemophagocytic Lymphohistiocytosis C||| 2501 0.499401 0.9032 0.2968 5008 , , NA 13362 0.4266 NA 0.336 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 C GLU/LYS 3612,794 315.2+/-294.0 1486,640,77 63 64 63 2599 3.7 0.3 17 dbSNP_86 63 2800,5798 676.1+/-403.3 458,1884,1957 yes missense UNC13D NM_199242.2 56 1944,2524,2034 CC,CT,TT 32.5657,18.0209,49.3079 benign 867/1091 73827205 6412,6592 2203 4299 6502 SO:0001583 missense Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.2599A>G chr17.hg19:g.73827205T>C ENSP00000207549:p.Lys867Glu NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 9.441419 CCTxGGG COVERED 1082 0.49542124542124544 441 0.8963414634146342 119 0.3287292817679558 280 0.48951048951048953 242 0.31926121372031663 C 0.028 -1.352212 0.01256 0.819791 0.325657 ENSG00000092929 ENST00000207549;ENST00000412096;ENST00000448606 T;T 0.72282 -0.64;-0.64 4.67 3.7 0.42460 Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1); 0.389639 0.26394 N 0.024634 T 0.00012 0.0000 N 0.00193 -1.875 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.41875 -0.9484 9 0.02654 T 1 -0.9421 9.48 0.38895 0.0:0.835:0.0:0.165 rs1135688;rs3198548;rs28622144;rs61662805 867 Q70J99 UN13D_HUMAN E 867 ENSP00000207549:K867E;ENSP00000388093:K867E ENSP00000207549:K867E K - 1 0 UNC13D 71338800 0.073000 0.21202 0.342000 0.25602 0.004000 0.04260 1.088000 0.30877 0.583000 0.29574 -0.733000 0.03571 AAG NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 0 12.032585 KEEP 0 0 0 40 1194 TT 1 1 0 - 15 60 554 0 0 38.513121 214 60 7617 302 ENST00000207549.4 0.065502 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73830270 73830270 __UNKNOWN__ Intron SNP G G A rs7212635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73830270G>A ENST00000207549.4 - 24 2678 UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) NA NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCATGAGTCGGGGATGGAAG 0.597 NA Familial Hemophagocytic Lymphohistiocytosis G||| 1273 0.254193 0.4924 0.111 5008 , , NA 20348 0.3323 NA 0.0596 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 G 1852,2554 522.3+/-370.8 397,1058,748 45 34 37 -3.7 0 17 dbSNP_116 37 591,8009 153.0+/-207.5 21,549,3730 no intron UNC13D NM_199242.2 418,1607,4478 AA,AG,GG 6.8721,42.0336,18.7836 73830270 2443,10563 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.2299-46C>T chr17.hg19:g.73830270G>A NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 4.409029 GTCxGGG COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 1 12.334034 KEEP 0 0 0 41 1395 GG 1 1 0 - 6 60 225 0 0 14.747505 127 60 4439 215 ENST00000207549.4 0.045113 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73831016 73831016 __UNKNOWN__ Silent SNP G G A rs2290770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73831016G>A ENST00000207549.4 - 21 2356 c.1977C>T c.(1975-1977)acC>acT p.T659T UNC13D_ENST00000412096.2_Silent_p.T659T NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 659 MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}. NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) p.T659T(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CAAACTTGACGGTAATCATGA 0.587 NA Familial Hemophagocytic Lymphohistiocytosis G||| 400 0.0798722 0.0666 0.0072 5008 , , NA 15689 0.2837 NA 0.001 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 221,4185 135.3+/-171.4 7,207,1989 106 103 104 1977 -8.6 0.9 17 dbSNP_100 104 8,8592 6.4+/-24.3 0,8,4292 no coding-synonymous UNC13D NM_199242.2 7,215,6281 AA,AG,GG 0.093,5.0159,1.7607 659/1091 73831016 229,12777 2203 4300 6503 SO:0001819 synonymous_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.1977C>T chr17.hg19:g.73831016G>A NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 4.564353 GACxGTA COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 1 11.734011 KEEP 0 0 0 39 1304 GG 1 1 0 - 6 60 235 0 0 15.646689 132 60 4592 228 ENST00000207549.4 0.043478 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73831658 73831658 __UNKNOWN__ Intron SNP A A G rs3744024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73831658A>G ENST00000207549.4 - 20 2107 UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) NA NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCACCATGGACCCTGGGGCC 0.682 NA Familial Hemophagocytic Lymphohistiocytosis G||| 1515 0.302516 0.6626 0.1282 5008 , , NA 14083 0.3323 NA 0.0626 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 G 2485,1919 716,1053,433 31 32 32 0.9 0 17 dbSNP_107 32 620,7978 32,556,3711 no intron UNC13D NM_199242.2 748,1609,4144 GG,GA,AA 7.211,43.574,23.8809 73831658 3105,9897 2202 4299 6501 SO:0001627 intron_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.1728-48T>C chr17.hg19:g.73831658A>G NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 3.895352 TGGxCCC COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 3 8.120963 KEEP 0 0 0 27 793 AA 0.999988 0.999983 0 - 5 60 179 0 0 11.418357 107 60 3682 157 ENST00000207549.4 0.044643 0.999995 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73831900 73831900 __UNKNOWN__ Intron SNP T T C rs3744026 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73831900T>C ENST00000207549.4 - 18 1976 UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) NA NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) ACAGCTCTGTTGGAGGGCATG 0.617 NA Familial Hemophagocytic Lymphohistiocytosis C||| 1544 0.308307 0.6793 0.134 5008 , , NA 14180 0.3323 NA 0.0626 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 C 2558,1848 536.4+/-374.5 749,1060,394 91 104 100 -8.5 0 17 dbSNP_107 100 626,7974 791.0+/-407.6 32,562,3706 no intron UNC13D NM_199242.2 781,1622,4100 CC,CT,TT 7.2791,41.9428,24.481 73831900 3184,9822 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.1596+35A>G chr17.hg19:g.73831900T>C NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 14.459911 TGTxGGA COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 2 27.376743 KEEP 0 0 0 91 2748 TT 1 1 0 - 16 60 535 0 0 32.328869 367 60 12668 557 ENST00000207549.4 0.041775 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73837142 73837142 __UNKNOWN__ Intron SNP A A C rs8067076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73837142A>C ENST00000207549.4 - 7 949 UNC13D_ENST00000587504.1_Intron|UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) NA NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGACGAAGCAGTAAGTGACC 0.507 NA Familial Hemophagocytic Lymphohistiocytosis C||| 2514 0.501997 0.9024 0.3012 5008 , , NA 15800 0.4246 NA 0.339 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 C 1153,231 478,197,17 53 68 63 -0.6 0 17 dbSNP_116 63 1065,2117 181,703,707 no intron UNC13D NM_199242.2 659,900,724 CC,CA,AA 33.4695,16.6908,48.5764 73837142 2218,2348 692 1591 2283 SO:0001627 intron_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.570-60T>G chr17.hg19:g.73837142A>C NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 4.920788 AGCxGTA COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 1 15.042474 KEEP 0 0 0 50 1513 AA 1 1 0 - 7 60 211 0 0 11.50411 181 60 6734 278 ENST00000207549.4 0.037234 1 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73839137 73839137 __UNKNOWN__ Silent SNP G G A rs3744007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73839137G>A ENST00000207549.4 - 4 658 c.279C>T c.(277-279)ccC>ccT p.P93P UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.P93P NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 93 NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTGCTCCTCGGGCTCCACGT 0.726 NA Familial Hemophagocytic Lymphohistiocytosis G||| 501 0.10004 0.087 0.036 5008 , , NA 11821 0.2827 NA 0.0239 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 G 270,4132 8,254,1939 20 24 23 279 -8.9 0 17 dbSNP_107 23 193,8403 5,183,4110 no coding-synonymous UNC13D NM_199242.2 13,437,6049 AA,AG,GG 2.2452,6.1336,3.5621 93/1091 73839137 463,12535 2201 4298 6499 SO:0001819 synonymous_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.279C>T chr17.hg19:g.73839137G>A NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 2.015728 CTCxGGC COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 1 10.232523 KEEP 0 0 0 34 1174 GG 0.999998 0.999766 0 - 4 60 150 0 0 9.864689 83 60 2926 156 ENST00000207549.4 0.045977 0.999768 UNC13D 201294 __UNKNOWN__ __UNKNOWN__ 17 73840272 73840272 __UNKNOWN__ Intron SNP C C T rs3744011 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73840272C>T ENST00000207549.4 - 1 497 UNC13D_ENST00000412096.2_Intron NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) NA NA defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304) endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCCCAAGGCCAGCTCTCTCC 0.657 NA Familial Hemophagocytic Lymphohistiocytosis C||| 813 0.16234 0.2315 0.0576 5008 , , NA 15926 0.3165 NA 0.0408 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 C 906,3500 328.5+/-300.6 80,746,1377 35 42 40 -4.4 0 17 dbSNP_107 40 406,8194 124.6+/-183.3 9,388,3903 no intron UNC13D NM_199242.2 89,1134,5280 TT,TC,CC 4.7209,20.5629,10.0877 73840272 1312,11694 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR AK024474 CCDS11730.1 17q25.3 2014-09-17 ENSG00000092929 201294 23147 protein-coding gene gene with protein product 608897 NA Standard XM_113950 NM_199242 NA Approved Munc13-4 uc002jpp.3 Q70J99 ENST00000207549.4:c.117+29G>A chr17.hg19:g.73840272C>T NA B4DWG9|Q9H7K5 hg19 CCDS11730.1 0.02 4.62298 GGCxAGC COVERED NOVEL UNC13D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448847.2 1 16.252959 KEEP 0 0 0 54 1921 CC 1 0.999999 0 - 9 60 334 0 0 23.818037 111 60 4035 214 ENST00000207549.4 0.075 0.999999 WBP2 23558 __UNKNOWN__ __UNKNOWN__ 17 73842892 73842892 __UNKNOWN__ Intron SNP C C T rs2305914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73842892C>T ENST00000433525.2 - 7 635 WBP2_ENST00000590221.1_Intron|WBP2_ENST00000254806.3_Intron|WBP2_ENST00000585462.1_Intron|WBP2_ENST00000344296.4_Intron|WBP2_ENST00000591399.1_Intron Q969T9 WBP2_HUMAN WW domain binding protein 2 NA NA cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nuclear chromatin (GO:0000790) chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) AAAGGAGAGACTTGCATTAGA 0.612 NA T||| 1180 0.235623 0.4387 0.0965 5008 , , NA 14994 0.3204 NA 0.0626 False NA ,,, NA NA NA 2504 0.1503 NA NA NA NA 0 T 1563,2843 274,1015,914 90 82 85 0.2 0 17 dbSNP_100 85 593,7995 18,557,3719 no intron WBP2 NM_012478.3 292,1572,4633 TT,TC,CC 6.905,35.4744,16.5923 73842892 2156,10838 2203 4294 6497 SO:0001627 intron_variant U79458 CCDS11731.1 17q25 2008-02-01 ENSG00000132471 23558 12738 protein-coding gene gene with protein product 606962 NA 7644498 Standard NM_012478 NM_012478 NA Approved WBP-2 uc002jps.3 Q969T9 ENST00000433525.2:c.598-24G>A chr17.hg19:g.73842892C>T NA O95638 hg19 0.02 7.96583 AGAxTTG COVERED NOVEL WBP2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000448868.1 1 22.271135 KEEP 0 0 0 74 2586 CC 1 1 0 - 14 60 478 0 0 31.374041 224 60 8184 372 ENST00000433525.2 0.058824 1 TRIM47 91107 __UNKNOWN__ __UNKNOWN__ 17 73871911 73871911 __UNKNOWN__ Intron SNP G G A rs3744021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73871911G>A ENST00000254816.2 - 4 1228 TRIM47_ENST00000587339.1_Intron NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGGATGGGCGCCAGGCCTGG 0.652 NA A||| 2101 0.419529 0.8064 0.2752 5008 , , NA 16737 0.2232 NA 0.3042 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY026763 CCDS32737.1 17q25 2013-01-09 2011-01-25 ENSG00000132481 91107 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19020 protein-coding gene gene with protein product 611041 tripartite motif-containing 47 NA Standard NM_033452 NA Approved GOA, RNF100 uc002jpw.3 Q96LD4 ENST00000254816.2:c.1201+70C>T chr17.hg19:g.73871911G>A NA Q96AD0|Q96GU5|Q9BRN7 hg19 CCDS32737.1 0.02 -0.418223 GGCxCCA COVERED NOVEL TRIM47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448934.1 6 5.714608 KEEP 0 0 0 19 577 GG 0.99986 0.948269 0 - 3 60 100 0 0 6.598478 44 60 1328 68 ENST00000254816.2 0.06383 0.948402 TRIM47 91107 __UNKNOWN__ __UNKNOWN__ 17 73872948 73872948 __UNKNOWN__ Intron SNP A A G rs1055129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73872948A>G ENST00000254816.2 - 2 702 RP11-552F3.9_ENST00000586076.1_RNA|TRIM47_ENST00000587339.1_Intron NM_033452.2 NP_258411.2 Q96LD4 TRI47_HUMAN tripartite motif containing 47 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) ACAGCCCTACACTCGGGTCCC 0.612 NA G||| 2118 0.422923 0.8139 0.2795 5008 , , NA 19559 0.2232 NA 0.3082 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G 1029,355 385,259,48 44 38 40 http://www.ncbi.nlm.nih.gov/pubmed?term -6.2 0 17 dbSNP_86 40 975,2207 155,665,771 yes intron TRIM47 NM_033452.2 540,924,819 GG,GA,AA http://www.ncbi.nlm.nih.gov/pubmed?term 30.6411,25.6503,43.8896 73872948 2004,2562 692 1591 2283 SO:0001627 intron_variant AY026763 CCDS32737.1 17q25 2013-01-09 2011-01-25 ENSG00000132481 91107 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 19020 protein-coding gene gene with protein product 611041 tripartite motif-containing 47 NA Standard NM_033452 NA Approved GOA, RNF100 uc002jpw.3 Q96LD4 ENST00000254816.2:c.676-54T>C chr17.hg19:g.73872948A>G NA Q96AD0|Q96GU5|Q9BRN7 hg19 CCDS32737.1 0.02 2.214052 TACxCTC COVERED NOVEL TRIM47-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448934.1 1 8.421264 KEEP 0 0 0 28 796 AA 0.999997 0.973962 0 - 4 60 147 0 0 10.417624 50 60 1703 90 ENST00000254816.2 0.074074 0.973965 TRIM65 201292 __UNKNOWN__ __UNKNOWN__ 17 73886888 73886888 __UNKNOWN__ Missense_Mutation SNP A A G rs3760128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73886888A>G ENST00000269383.3 - 6 1591 c.1526T>C c.(1525-1527)cTg>cCg p.L509P NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 509 NA L -> P (in dbSNP:rs3760128). {ECO:0000269|PubMed:15489334}. intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGGGGCCCCAGAGGGAACAC 0.627 NA G||| 2328 0.464856 0.9032 0.3141 5008 , , NA 17564 0.2222 NA 0.3499 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 G PRO/LEU 3605,787 1492,621,83 19 19 19 1526 3.7 0 17 dbSNP_107 19 2944,5646 541,1862,1892 yes missense TRIM65 NM_173547.2 98 2033,2483,1975 GG,GA,AA 34.2724,17.9189,49.5532 benign 509/518 73886888 6549,6433 2196 4295 6491 SO:0001583 missense BC006138 CCDS11732.1 17q25.1 2013-01-09 2011-01-25 ENSG00000141569 ENSG00000141569 201292 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 27316 protein-coding gene gene with protein product tripartite motif-containing 65 NA 12477932 Standard NM_173547 NM_173547 NA Approved uc002jpx.4 Q6PJ69 OTTHUMG00000132127 ENST00000269383.3:c.1526T>C chr17.hg19:g.73886888A>G ENSP00000269383:p.Leu509Pro NA Q4G0F0|Q6DKJ6|Q9BRP6 hg19 CCDS11732.1 0.02 4.365266 CCCxGAG COVERED 961 0.440018315018315 441 0.8963414634146342 128 0.35359116022099446 147 0.256993006993007 245 0.3232189973614776 G 0 -2.811358 0.00073 0.820811 0.342724 ENSG00000141569 ENST00000269383 T 0.57595 0.39 4.69 3.69 0.42338 Concanavalin A-like lectin/glucanase (1); 0.337845 0.21595 N 0.072024 T 0.00012 0.0000 N 0.00308 -1.67 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.32481 -0.9905 9 0.11182 T 0.66 . 5.6825 0.17784 0.079:0.1377:0.6412:0.1422 rs3760128;rs57250342;rs3760128 509 Q6PJ69 TRI65_HUMAN P 509 ENSP00000269383:L509P ENSP00000269383:L509P L - 2 0 TRIM65 71398483 0.002000 0.14202 0.001000 0.08648 0.002000 0.02628 1.022000 0.30052 0.395000 0.25257 -0.215000 0.12644 CTG NOVEL TRIM65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255170.2 1 5.115006 KEEP 0 0 0 17 535 AA 0.999366 0.999366 0 - 5 60 181 0 0 11.157009 133 60 4758 181 ENST00000269383.3 0.036232 1 TRIM65 201292 __UNKNOWN__ __UNKNOWN__ 17 73887996 73887996 __UNKNOWN__ Intron SNP A A G rs4393627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73887996A>G ENST00000269383.3 - 5 985 NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) ATGGTTGGAGAGGTCACGATG 0.652 NA A||| 828 0.165335 0.3419 0.085 5008 , , NA 15915 0.0923 NA 0.0994 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 A 1288,3116 197,894,1111 51 50 51 -0.9 0 17 dbSNP_111 51 887,7711 51,785,3463 no intron TRIM65 NM_173547.2 248,1679,4574 GG,GA,AA 10.3164,29.2461,16.7282 73887996 2175,10827 2202 4299 6501 SO:0001627 intron_variant BC006138 CCDS11732.1 17q25.1 2013-01-09 2011-01-25 ENSG00000141569 ENSG00000141569 201292 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 27316 protein-coding gene gene with protein product tripartite motif-containing 65 NA 12477932 Standard NM_173547 NM_173547 NA Approved uc002jpx.4 Q6PJ69 OTTHUMG00000132127 ENST00000269383.3:c.920-37T>C chr17.hg19:g.73887996A>G NA Q4G0F0|Q6DKJ6|Q9BRP6 hg19 CCDS11732.1 0.02 9.016178 GAGxGGT COVERED NOVEL TRIM65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255170.2 0 18.219322 KEEP 0 1 9 64 2010 AA 1 1 0 - 9 60 338 0 0 21.569179 223 60 7862 394 ENST00000269383.3 0.038793 1 TRIM65 201292 __UNKNOWN__ __UNKNOWN__ 17 73888273 73888273 __UNKNOWN__ Intron SNP C C T rs4398150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73888273C>T ENST00000269383.3 - 4 810 NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 NA NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) ATTCCTGAGCCCCAGGGAGAA 0.632 NA C||| 598 0.119409 0.1785 0.072 5008 , , NA 18302 0.0923 NA 0.0974 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 C 693,3689 53,587,1551 15 17 17 -0.6 0.1 17 dbSNP_111 17 841,7729 52,737,3496 no intron TRIM65 NM_173547.2 105,1324,5047 TT,TC,CC 9.8133,15.8147,11.8437 73888273 1534,11418 2191 4285 6476 SO:0001627 intron_variant BC006138 CCDS11732.1 17q25.1 2013-01-09 2011-01-25 ENSG00000141569 ENSG00000141569 201292 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 27316 protein-coding gene gene with protein product tripartite motif-containing 65 NA 12477932 Standard NM_173547 NM_173547 NA Approved uc002jpx.4 Q6PJ69 OTTHUMG00000132127 ENST00000269383.3:c.745-7G>A chr17.hg19:g.73888273C>T NA Q4G0F0|Q6DKJ6|Q9BRP6 hg19 CCDS11732.1 0.02 8.254429 AGCxCCA COVERED NOVEL TRIM65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255170.2 2 24.377769 KEEP 0 0 0 81 2837 CC 1 1 0 - 7 60 250 0 0 14.7707 221 60 7893 380 ENST00000269383.3 0.030702 1 TRIM65 201292 __UNKNOWN__ __UNKNOWN__ 17 73888423 73888423 __UNKNOWN__ Silent SNP A A G rs7222755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73888423A>G ENST00000269383.3 - 3 734 c.669T>C c.(667-669)caT>caC p.H223H NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 223 NA intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGCCTCCAAATGGACCCGCA 0.647 NA G||| 2044 0.408147 0.7859 0.2709 5008 , , NA 16113 0.2212 NA 0.2972 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 G 3126,1276 1135,856,210 23 27 26 669 3.2 0.9 17 dbSNP_116 26 2536,6062 386,1764,2149 no coding-synonymous TRIM65 NM_173547.2 1521,2620,2359 GG,GA,AA 29.4952,28.9868,43.5538 223/518 73888423 5662,7338 2201 4299 6500 SO:0001819 synonymous_variant BC006138 CCDS11732.1 17q25.1 2013-01-09 2011-01-25 ENSG00000141569 ENSG00000141569 201292 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 27316 protein-coding gene gene with protein product tripartite motif-containing 65 NA 12477932 Standard NM_173547 NM_173547 NA Approved uc002jpx.4 Q6PJ69 OTTHUMG00000132127 ENST00000269383.3:c.669T>C chr17.hg19:g.73888423A>G NA Q4G0F0|Q6DKJ6|Q9BRP6 hg19 CCDS11732.1 0.02 8.62544 CAAxTGG COVERED 843|843 0.385989010989011|0.385989010989011 374|374 0.7601626016260162|0.7601626016260162 109|109 0.3011049723756906|0.3011049723756906 147|147 0.256993006993007|0.256993006993007 213|213 0.28100263852242746|0.28100263852242746 G|G 0.396|0.396 -0.920654|-0.920654 0.02396|0.02396 0.710132|0.710132 0.294952|0.294952 ENSG00000141569|ENSG00000141569 ENST00000540128|ENST00000543309 .|. .|. .|. 4.23|4.23 3.23|3.23 0.37069|0.37069 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.09310|0.09310 P|P 0.99999999509411|0.99999999509411 .|. .|. .|. .|. .|. .|. T|T 0.24728|0.24728 -1.0152|-1.0152 3|3 .|. .|. .|. .|. 7.3708|7.3708 0.26800|0.26800 0.0908:0.3209:0.5883:0.0|0.0908:0.3209:0.5883:0.0 rs7222755;rs60028486|rs7222755;rs60028486 .|. .|. .|. L|T 215|97 .|. .|. F|I -|- 1|2 0|0 TRIM65|TRIM65 71400018|71400018 0.927000|0.927000 0.31430|0.31430 0.939000|0.939000 0.37840|0.37840 0.013000|0.013000 0.08279|0.08279 0.449000|0.449000 0.21744|0.21744 0.429000|0.429000 0.26202|0.26202 -0.355000|-0.355000 0.07637|0.07637 TTT|ATT NOVEL TRIM65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255170.2 4 35.80599 KEEP 0 0 0 119 3710 AA 1 1 0 - 10 60 353 0 0 22.202417 221 60 7687 421 ENST00000269383.3 0.04329 1 TRIM65 201292 __UNKNOWN__ __UNKNOWN__ 17 73888427 73888427 __UNKNOWN__ Missense_Mutation SNP A A C rs7222757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73888427A>C ENST00000269383.3 - 3 730 c.665T>G c.(664-666)gTc>gGc p.V222G NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 222 NA V -> G (in dbSNP:rs7222757). {ECO:0000269|PubMed:15489334}. intracellular (GO:0005622) zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTCCAAATGGACCCGCAGCCG 0.647 NA C||| 2044 0.408147 0.7859 0.2709 5008 , , NA 16251 0.2212 NA 0.2972 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 C GLY/VAL 3126,1276 1135,856,210 23 28 26 665 0.9 0.1 17 dbSNP_116 26 2529,6069 385,1759,2155 no missense TRIM65 NM_173547.2 109 1520,2615,2365 CC,CA,AA 29.4138,28.9868,43.5 benign 222/518 73888427 5655,7345 2201 4299 6500 SO:0001583 missense BC006138 CCDS11732.1 17q25.1 2013-01-09 2011-01-25 ENSG00000141569 ENSG00000141569 201292 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers 27316 protein-coding gene gene with protein product tripartite motif-containing 65 NA 12477932 Standard NM_173547 NM_173547 NA Approved uc002jpx.4 Q6PJ69 OTTHUMG00000132127 ENST00000269383.3:c.665T>G chr17.hg19:g.73888427A>C ENSP00000269383:p.Val222Gly NA Q4G0F0|Q6DKJ6|Q9BRP6 hg19 CCDS11732.1 0.02 8.852394 TGGxCCC COVERED 842|842 0.38553113553113555|0.38553113553113555 374|374 0.7601626016260162|0.7601626016260162 109|109 0.3011049723756906|0.3011049723756906 147|147 0.256993006993007|0.256993006993007 212|212 0.2796833773087071|0.2796833773087071 C|C 0.013|0.013 -1.613393|-1.613393 0.00835|0.00835 0.710132|0.710132 0.294138|0.294138 ENSG00000141569|ENSG00000141569 ENST00000543309|ENST00000269383 .|T .|0.55588 .|0.51 4.23|4.23 0.864|0.864 0.19068|0.19068 .|. .|0.902753 .|0.09382 .|N .|0.809767 T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.50171|0.50171 P|P 1.4999999999998348E-4|1.4999999999998348E-4 .|B .|0.02656 .|0.0 .|B .|0.01281 .|0.0 T|T 0.35301|0.35301 -0.9794|-0.9794 4|9 .|0.22706 .|T .|0.39 .|. 2.6845|2.6845 0.05103|0.05103 0.218:0.3051:0.0:0.4769|0.218:0.3051:0.0:0.4769 rs7222757;rs61169735|rs7222757;rs61169735 .|222 .|Q6PJ69 .|TRI65_HUMAN A|G 96|222 .|ENSP00000269383:V222G .|ENSP00000269383:V222G S|V -|- 1|2 0|0 TRIM65|TRIM65 71400022|71400022 0.000000|0.000000 0.05858|0.05858 0.128000|0.128000 0.21923|0.21923 0.003000|0.003000 0.03518|0.03518 -1.241000|-1.241000 0.02911|0.02911 0.101000|0.101000 0.17610|0.17610 -0.358000|-0.358000 0.07595|0.07595 TCC|GTC NOVEL TRIM65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255170.2 4 34.255987 KEEP 0 1 5 116 3477 AA 1 1 0 - 14 60 351 0 0 20.58748 204 60 6606 427 ENST00000269383.3 0.06422 1 MRPL38 64978 __UNKNOWN__ __UNKNOWN__ 17 73894804 73894804 __UNKNOWN__ 3'UTR SNP G G A rs7370 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73894804G>A ENST00000309352.3 - 0 1807 MRPL38_ENST00000409963.3_3'UTR|RP11-552F3.10_ENST00000587267.1_RNA NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 NA NA mitochondrion (GO:0005739)|ribosome (GO:0005840) ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGGCCTGACGGGAGGGGGCC 0.587 NA G||| 1032 0.20607 0.2073 0.183 5008 , , NA 15554 0.1548 NA 0.2903 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051345 CCDS11733.2 17q23-q25 2012-09-13 ENSG00000204316 ENSG00000204316 64978 Mitochondrial ribosomal proteins / large subunits 14033 protein-coding gene gene with protein product 611844 NA 11543634 Standard NM_032478 NM_032478 NA Approved RPML3, MRP-L3, HSPC262, MGC4810 uc010wso.1 Q96DV4 OTTHUMG00000152977 ENST00000309352.3:c.*127C>T chr17.hg19:g.73894804G>A NA B3KN96|Q96Q66|Q9P0B9 hg19 CCDS11733.2 0.02 10.607926 GACxGGA COVERED NOVEL MRPL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328829.1 10 36.114341 KEEP 0 0 0 120 4109 GG 1 1 0 - 9 60 335 0 0 20.24785 291 60 10554 562 ENST00000309352.3 0.03 1 MRPL38 64978 __UNKNOWN__ __UNKNOWN__ 17 73897046 73897046 __UNKNOWN__ Intron SNP A A G rs386799269|rs9902371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73897046A>G ENST00000309352.3 - 6 1248 MRPL38_ENST00000409963.3_Intron NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 NA NA mitochondrion (GO:0005739)|ribosome (GO:0005840) ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCTACCCCCAGTACTCCAGT 0.602 NA G||| 1684 0.336262 0.5893 0.2565 5008 , , NA 14020 0.1736 NA 0.2873 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 G 2333,2071 606,1121,475 25 26 26 NA 0 17 dbSNP_119 26 2455,6141 358,1739,2201 no intron MRPL38 NM_032478.3 964,2860,2676 GG,GA,AA 28.5598,47.0254,36.8308 73897046 4788,8212 2202 4298 6500 SO:0001627 intron_variant AB051345 CCDS11733.2 17q23-q25 2012-09-13 ENSG00000204316 ENSG00000204316 64978 Mitochondrial ribosomal proteins / large subunits 14033 protein-coding gene gene with protein product 611844 NA 11543634 Standard NM_032478 NM_032478 NA Approved RPML3, MRP-L3, HSPC262, MGC4810 uc010wso.1 Q96DV4 OTTHUMG00000152977 ENST00000309352.3:c.710+16T>C chr17.hg19:g.73897046A>G NA B3KN96|Q96Q66|Q9P0B9 hg19 CCDS11733.2 0.02 14.691876 CCCxGTA COVERED NOVEL MRPL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328829.1 4 37.010704 KEEP 0 0 0 123 3855 AA 1 1 0 - 22 70 743 0 0 50.142515 299 70 11201 593 ENST00000309352.3 0.068536 1 MRPL38 64978 __UNKNOWN__ __UNKNOWN__ 17 73900688 73900688 __UNKNOWN__ Silent SNP T T C rs3744015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73900688T>C ENST00000309352.3 - 2 717 c.180A>G c.(178-180)cgA>cgG p.R60R MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 60 NA mitochondrion (GO:0005739)|ribosome (GO:0005840) ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTGCTCTGCTCGGCGCCGGT 0.682 NA C||| 2236 0.446486 0.8411 0.3156 5008 , , NA 8697 0.2123 NA 0.3509 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 C 3264,1106 1242,780,163 10 12 11 180 -2.7 0.6 17 dbSNP_107 11 2855,5713 524,1807,1953 yes coding-synonymous MRPL38 NM_032478.3 1766,2587,2116 CC,CT,TT 33.3217,25.3089,47.2948 60/381 73900688 6119,6819 2185 4284 6469 SO:0001819 synonymous_variant AB051345 CCDS11733.2 17q23-q25 2012-09-13 ENSG00000204316 ENSG00000204316 64978 Mitochondrial ribosomal proteins / large subunits 14033 protein-coding gene gene with protein product 611844 NA 11543634 Standard NM_032478 NM_032478 NA Approved RPML3, MRP-L3, HSPC262, MGC4810 uc010wso.1 Q96DV4 OTTHUMG00000152977 ENST00000309352.3:c.180A>G chr17.hg19:g.73900688T>C NA B3KN96|Q96Q66|Q9P0B9 hg19 CCDS11733.2 0.02 7.669931 TGCxCGG COVERED NOVEL MRPL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328829.1 1 43.263821 KEEP 0 0 0 144 4397 TT 1 1 0 - 10 60 385 0 0 27.066875 149 60 5238 425 ENST00000309352.3 0.062893 1 MRPL38 64978 __UNKNOWN__ __UNKNOWN__ 17 73901294 73901294 __UNKNOWN__ 5'UTR SNP G G T rs55956362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73901294G>T ENST00000309352.3 - 0 200 MRPL38_ENST00000409963.3_Intron|RP11-552F3.12_ENST00000587556.1_Intron NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 NA NA mitochondrion (GO:0005739)|ribosome (GO:0005840) ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGACGCTGCGTCCTGATTTC 0.677 NA G||| 1072 0.214058 0.2247 0.1873 5008 , , NA 12736 0.1617 NA 0.2913 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB051345 CCDS11733.2 17q23-q25 2012-09-13 ENSG00000204316 ENSG00000204316 64978 Mitochondrial ribosomal proteins / large subunits 14033 protein-coding gene gene with protein product 611844 NA 11543634 Standard NM_032478 NM_032478 NA Approved RPML3, MRP-L3, HSPC262, MGC4810 uc010wso.1 Q96DV4 OTTHUMG00000152977 ENST00000309352.3:c.-338C>A chr17.hg19:g.73901294G>T NA B3KN96|Q96Q66|Q9P0B9 hg19 CCDS11733.2 0.02 2.051227 TGCxTCC COVERED NOVEL MRPL38-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000328829.1 0 17.154961 KEEP 0 0 0 57 1971 GG 1 0.999559 0 - 5 60 188 0 0 12.957292 79 60 2798 180 ENST00000309352.3 0.059524 0.999559 RP11-552F3.12 0 __UNKNOWN__ __UNKNOWN__ 17 73906934 73906934 __UNKNOWN__ Intron SNP G G A rs9302994 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73906934G>A ENST00000587556.1 - 3 144 FBF1_ENST00000319129.5_Intron|FBF1_ENST00000389570.4_Intron|FBF1_ENST00000586717.1_Intron NA NA NA GAGCTGAGAGGGAGGTGGAGC 0.607 NA A||| 2335 0.466254 0.907 0.3213 5008 , , NA 18445 0.2212 NA 0.3499 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 A 3253,907 1300,653,127 22 25 24 -7.2 0 17 dbSNP_119 24 2831,5577 513,1805,1886 no intron FBF1 NM_001080542.1 1813,2458,2013 AA,AG,GG 33.6703,21.8029,48.4087 73906934 6084,6484 2080 4204 6284 SO:0001627 intron_variant NA NA NA NA ENST00000587556.1:c.145-1036C>T chr17.hg19:g.73906934G>A NA hg19 0.02 4.58928 GAGxGAG COVERED NOVEL RP11-552F3.12-003 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000449337.1 0 6.319365 KEEP 0 0 0 21 694 GG 0.999869 0.999837 0 - 5 60 190 0 0 12.744202 96 60 3510 152 ENST00000587556.1 0.049505 0.999968 FBF1 85302 __UNKNOWN__ __UNKNOWN__ 17 73909948 73909948 __UNKNOWN__ Intron SNP C C T rs55793071 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73909948C>T ENST00000586717.1 - 26 3358 FBF1_ENST00000319129.5_Intron|FBF1_ENST00000389570.4_Intron Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 NA NA apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 AGGTGGGAGGCTGGGGGTGCC 0.667 NA C||| 890 0.177716 0.1762 0.1585 5008 , , NA 14468 0.1617 NA 0.2386 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 C 657,3225 74,509,1358 12 13 13 -8.7 0 17 dbSNP_129 13 1825,6463 221,1383,2540 no intron FBF1 NM_001080542.1 295,1892,3898 TT,TC,CC 22.0198,16.9243,20.3944 73909948 2482,9688 1941 4144 6085 SO:0001627 intron_variant AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302 24674 protein-coding gene gene with protein product albatross NA 11347906 Standard NM_001080542 NM_001080542 NA Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586717.1:c.3084+45G>A chr17.hg19:g.73909948C>T NA B5MEM5|Q96IF6|Q96JG4|Q96MA8 hg19 0.02 7.737754 AGGxTGG COVERED NOVEL FBF1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000448945.2 3 16.554149 KEEP 0 0 0 55 1967 CC 1 1 0 - 14 60 444 0 0 28.450074 216 60 8051 354 ENST00000586717.1 0.06087 1 FBF1 85302 __UNKNOWN__ __UNKNOWN__ 17 73910395 73910395 __UNKNOWN__ Intron SNP G G A rs3826274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73910395G>A ENST00000586717.1 - 25 3046 FBF1_ENST00000319129.5_Intron|FBF1_ENST00000389570.4_Intron Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 NA NA apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GACAGCGGAGGCCCTGCTGCA 0.672 NA G||| 551 0.110024 0.1445 0.0807 5008 , , NA 17864 0.0823 NA 0.1004 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 G 525,3693 33,459,1617 11 12 12 -4.7 0 17 dbSNP_107 12 816,7652 44,728,3462 no intron FBF1 NM_001080542.1 77,1187,5079 AA,AG,GG 9.6363,12.4467,10.5707 73910395 1341,11345 2109 4234 6343 SO:0001627 intron_variant AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302 24674 protein-coding gene gene with protein product albatross NA 11347906 Standard NM_001080542 NM_001080542 NA Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586717.1:c.2773-19C>T chr17.hg19:g.73910395G>A NA B5MEM5|Q96IF6|Q96JG4|Q96MA8 hg19 0.02 3.935117 GAGxCCC COVERED NOVEL FBF1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000448945.2 0 12.770502 KEEP 0 1 33 54 1900 GG 1 0.999998 0 - 11 60 385 0 0 27.840517 108 60 3843 215 ENST00000586717.1 0.092437 0.999998 FBF1 85302 __UNKNOWN__ __UNKNOWN__ 17 73931787 73931787 __UNKNOWN__ Intron SNP G G A rs59867239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73931787G>A ENST00000586717.1 - 3 305 FBF1_ENST00000319129.5_Intron|FBF1_ENST00000389570.4_Intron Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 NA NA apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 ATGACTTCAGGAGGAAAGAAG 0.478 NA g||| 898 0.179313 0.1755 0.1585 5008 , , NA 17537 0.1706 NA 0.2386 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 260,1124 32,196,464 155 140 145 2.3 0.1 17 dbSNP_129 145 721,2461 86,549,956 no intron FBF1 NM_001080542.1 118,745,1420 AA,AG,GG 22.6587,18.7861,21.4849 73931787 981,3585 692 1591 2283 SO:0001627 intron_variant AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302 24674 protein-coding gene gene with protein product albatross NA 11347906 Standard NM_001080542 NM_001080542 NA Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586717.1:c.31+1859C>T chr17.hg19:g.73931787G>A NA B5MEM5|Q96IF6|Q96JG4|Q96MA8 hg19 0.02 6.715525 CAGxAGG COVERED NOVEL FBF1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000448945.2 0 6.922431 KEEP 0 0 0 23 812 GG 0.999892 0.999892 0 - 10 60 367 0 0 25.092262 155 60 5876 219 ENST00000586717.1 0.060606 1 FBF1 85302 __UNKNOWN__ __UNKNOWN__ 17 73931847 73931847 __UNKNOWN__ Intron SNP C C G rs7218498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73931847C>G ENST00000586717.1 - 3 305 FBF1_ENST00000319129.5_Intron|FBF1_ENST00000389570.4_Intron Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 NA NA apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 AGGCGTCAGACCTTTCAGATG 0.468 NA g||| 2255 0.45028 0.8404 0.3271 5008 , , NA 18492 0.2212 NA 0.3559 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 1063,321 411,241,40 111 107 108 -2.7 0 17 dbSNP_116 108 1125,2057 204,717,670 no intron FBF1 NM_001080542.1 615,958,710 GG,GC,CC 35.3551,23.1936,47.9194 73931847 2188,2378 692 1591 2283 SO:0001627 intron_variant AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302 24674 protein-coding gene gene with protein product albatross NA 11347906 Standard NM_001080542 NM_001080542 NA Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586717.1:c.31+1799G>C chr17.hg19:g.73931847C>G NA B5MEM5|Q96IF6|Q96JG4|Q96MA8 hg19 0.02 2.341599 AGAxCTT COVERED NOVEL FBF1-001 KNOWN basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000448945.2 1 4.213761 KEEP 0 0 0 14 498 CC 0.995343 0.994967 0 - 8 60 305 0 0 22.803313 77 60 2782 107 ENST00000586717.1 0.094118 0.999622 FBF1 85302 __UNKNOWN__ __UNKNOWN__ 17 73934130 73934130 __UNKNOWN__ Missense_Mutation SNP G G A rs2608882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73934130G>A ENST00000586631.2 - 2 283 c.101C>T c.(100-102)gCg>gTg p.A34V FBF1_ENST00000319129.5_Intron|FBF1_ENST00000586717.1_Intron|FBF1_ENST00000389570.4_Intron Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 0 NA apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GGTCCTTGCCGCCCAGCCCCC 0.527 NA G||| 898 0.179313 0.1755 0.1585 5008 , , NA 19496 0.1706 NA 0.2386 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 G 259,1125 31,197,464 104 89 94 0.7 0 17 dbSNP_100 94 720,2462 87,546,958 no intron FBF1 NM_001080542.1 118,743,1422 AA,AG,GG 22.6273,18.7139,21.4411 73934130 979,3587 692 1591 2283 SO:0001583 missense AK074045 CCDS45779.1 17q25.3 2011-04-21 ENSG00000188878 ENSG00000188878 85302 24674 protein-coding gene gene with protein product albatross NA 11347906 Standard NM_001080542 NM_001080542 NA Approved FLJ00103, FBF-1, KIAA1863, ALB uc002jqc.3 Q8TES7 ENST00000586631.2:c.101C>T chr17.hg19:g.73934130G>A ENSP00000475294:p.Ala34Val NA B5MEM5|Q96IF6|Q96JG4|Q96MA8 hg19 0.02 4.276013 GCCxCCC COVERED NOVEL FBF1-004 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000449345.2 0 13.241862 KEEP 0 0 0 44 1513 GG 1 1 0 - 7 60 259 0 0 17.248886 130 60 4335 222 ENST00000586631.2 0.051095 1 CDK3 1018 __UNKNOWN__ __UNKNOWN__ 17 73997474 73997474 __UNKNOWN__ De_novo_Start_OutOfFrame SNP G G A rs2069528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:73997474G>A ENST00000425876.2 + 0 56 TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron Q00526 CDK3_HUMAN cyclin-dependent kinase 3 NA NA cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693) central_nervous_system(1) 1 CAAATTGCCCGGTGCCTTCTG 0.622 NA A||| 4217 0.842053 0.9584 0.7622 5008 , , NA 15279 0.8829 NA 0.7237 False NA ,,, NA NA NA 2504 0.8211 NA NA NA NA 0 A 4073,333 174.4+/-204.0 1885,303,15 75 63 67 -5.6 0 17 dbSNP_96 67 6372,2226 376.3+/-338.1 2354,1664,281 no intron CDK3 NM_001258.2 4239,1967,296 AA,AG,GG 25.8897,7.5579,19.6786 73997474 10445,2559 2203 4299 6502 X66357 CCDS11736.1 17q25.1 2012-09-20 ENSG00000250506 ENSG00000250506 1018 Cyclin-dependent kinases 1772 protein-coding gene gene with protein product 123828 NA 1639063 Standard NM_001258 NM_001258 NA Approved uc010dgt.3 Q00526 OTTHUMG00000154861 ENST00000425876.2:c.-33G>A chr17.hg19:g.73997474G>A NA hg19 CCDS11736.1 0.02 6.934694 CCCxGTG COVERED NOVEL CDK3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337389.2 0 16.552576 KEEP 0 0 0 55 1877 GG 1 1 0 + 12 60 458 0 0 31.898668 185 60 6202 311 ENST00000425876.2 0.060914 1 EVPL 2125 __UNKNOWN__ __UNKNOWN__ 17 74009047 74009047 __UNKNOWN__ Intron SNP G G A rs11870342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74009047G>A ENST00000301607.3 - 19 2627 EVPL_ENST00000586740.1_Intron NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin NA NA epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149) cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 ggatggtctcgatctcctgac 0.547 NA G||| 3430 0.684904 0.9531 0.4841 5008 , , NA 16634 0.628 NA 0.5964 False NA ,,, NA NA NA 2504 0.6145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U53786 CCDS11737.1 17q25 2008-07-18 ENSG00000167880 2125 3503 protein-coding gene gene with protein product 601590 NA 8938451, 10409435 Standard NM_001988 NM_001988 NA Approved EVPK uc002jqi.2 Q92817 ENST00000301607.3:c.2374-877C>T chr17.hg19:g.74009047G>A NA A0AUV5 hg19 CCDS11737.1 0.02 -0.07894 CTCxATC UNCOVERED NOVEL EVPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449483.1 2 3.595867 KEEP 5 0 0 12 388 GG 0 0 0 - 3 46 111 0 0 10.043954 6 60 184 28 ENST00000301607.3 0.333333 0.077336 EVPL 2125 __UNKNOWN__ __UNKNOWN__ 17 74015028 74015028 __UNKNOWN__ Silent SNP G G A rs2290250 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74015028G>A ENST00000301607.3 - 11 1504 c.1251C>T c.(1249-1251)caC>caT p.H417H EVPL_ENST00000586740.1_Silent_p.H417H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 417 Globular 1. NA epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149) cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198) breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGCTGTCCACGTGCAGGGGCT 0.697 NA G||| 50 0.00998403 0.0 0.0 5008 , , NA 12407 0.0476 NA 0.002 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 2,4404 0,2,2201 21 24 23 1251 -2.8 0.8 17 dbSNP_100 23 4,8594 0,4,4295 no coding-synonymous EVPL NM_001988.2 0,6,6496 AA,AG,GG 0.0465,0.0454,0.0461 417/2034 74015028 6,12998 2203 4299 6502 SO:0001819 synonymous_variant U53786 CCDS11737.1 17q25 2008-07-18 ENSG00000167880 2125 3503 protein-coding gene gene with protein product 601590 NA 8938451, 10409435 Standard NM_001988 NM_001988 NA Approved EVPK uc002jqi.2 Q92817 ENST00000301607.3:c.1251C>T chr17.hg19:g.74015028G>A NA A0AUV5 hg19 CCDS11737.1 0.02 -0.315798 CACxTGC COVERED NOVEL EVPL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449483.1 0 6.019021 KEEP 0 0 0 20 685 GG 0.999863 0.818352 0 - 3 60 115 0 0 8.447602 33 60 1177 72 ENST00000301607.3 0.083333 0.818465 SRP68 6730 __UNKNOWN__ __UNKNOWN__ 17 74056413 74056413 __UNKNOWN__ Silent SNP C C T rs2665998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74056413C>T ENST00000539137.1 - 6 714 c.699G>A c.(697-699)gaG>gaA p.E233E SRP68_ENST00000355113.5_Silent_p.E170E|SRP68_ENST00000307877.2_Silent_p.E271E NM_001260502.1 NP_001247431.1 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 271 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 CCAAGAGACCCTCAGTGCCCC 0.438 NA C||| 2774 0.553914 0.9213 0.5764 5008 , , NA 14229 0.4722 NA 0.3926 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 C 3634,772 753.4+/-412.4 1510,614,79 82 82 82 813 0.6 1 17 dbSNP_100 82 3481,5119 509.6+/-377.3 706,2069,1525 no coding-synonymous SRP68 NM_014230.2 2216,2683,1604 TT,TC,CC 40.4767,17.5216,45.2945 271/628 74056413 7115,5891 2203 4300 6503 SO:0001819 synonymous_variant AF195951 CCDS11738.1, CCDS58600.1, CCDS58601.1 17q25.1 2010-04-30 2002-08-29 ENSG00000167881 ENSG00000167881 6730 11302 protein-coding gene gene with protein product 604858 signal recognition particle 68kD NA 10618370 Standard NM_014230 NM_014230 NA Approved uc002jqk.2 Q9UHB9 ENST00000539137.1:c.699G>A chr17.hg19:g.74056413C>T NA B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2 hg19 CCDS58601.1 0.02 4.399578 ACCxTCA COVERED NOVEL SRP68-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000449491.1 0 10.699718 KEEP 0 1 9 39 1357 CC 1 1 0 - 10 60 369 0 0 26.227728 124 60 4652 215 ENST00000539137.1 0.074627 1 SRP68 6730 __UNKNOWN__ __UNKNOWN__ 17 74066447 74066447 __UNKNOWN__ Intron SNP T T A rs2443168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74066447T>A ENST00000539137.1 - 2 267 SRP68_ENST00000355113.5_Intron|SRP68_ENST00000307877.2_Intron NM_001260502.1 NP_001247431.1 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 ACATCTTGTATGTGATACTAA 0.378 NA T||| 2820 0.563099 0.944 0.5836 5008 , , NA 18965 0.4792 NA 0.3936 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 T 3747,659 764.8+/-413.3 1599,549,55 114 102 106 -4.3 0 17 dbSNP_100 106 3494,5106 510.2+/-377.4 710,2074,1516 no intron SRP68 NM_014230.2 2309,2623,1571 AA,AT,TT 40.6279,14.9569,44.3257 74066447 7241,5765 2203 4300 6503 SO:0001627 intron_variant AF195951 CCDS11738.1, CCDS58600.1, CCDS58601.1 17q25.1 2010-04-30 2002-08-29 ENSG00000167881 ENSG00000167881 6730 11302 protein-coding gene gene with protein product 604858 signal recognition particle 68kD NA 10618370 Standard NM_014230 NM_014230 NA Approved uc002jqk.2 Q9UHB9 ENST00000539137.1:c.251+11A>T chr17.hg19:g.74066447T>A NA B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2 hg19 CCDS58601.1 0.02 24.071539 GTAxGTG COVERED NOVEL SRP68-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000449491.1 11 31.894184 KEEP 0 0 0 106 3283 TT 1 1 0 - 33 60 1210 0 0 83.899671 469 60 17547 756 ENST00000539137.1 0.065737 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74283253 74283253 __UNKNOWN__ Intron SNP A A G rs8072620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74283253A>G ENST00000262765.5 - 7 3693 NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 NA NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CCCTGGAGCTAAAGAGTGGGG 0.562 NA G||| 2268 0.452875 0.6513 0.304 5008 , , NA 14679 0.5724 NA 0.2724 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 G 2699,1707 508.1+/-366.9 834,1031,338 81 68 73 -5.3 0 17 dbSNP_116 73 2432,6168 696.6+/-404.9 336,1760,2204 no intron QRICH2 NM_032134.1 1170,2791,2542 GG,GA,AA 28.2791,38.7426,39.451 74283253 5131,7875 2203 4300 6503 SO:0001627 intron_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.3513+19T>C chr17.hg19:g.74283253A>G NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 9.649711 GCTxAAG COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 0 5.98868 KEEP 0 0 0 20 567 AA 0.999863 0.999863 0 - 11 60 414 0 0 27.525417 217 60 7740 287 ENST00000262765.5 0.048246 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74286082 74286082 __UNKNOWN__ Silent SNP C C T rs200566694|rs4789273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74286082C>T ENST00000262765.5 - 5 3470 c.3291G>A c.(3289-3291)gaG>gaA p.E1097E NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1097 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTTTTGCTTTCTCCTGCCAAA 0.458 NA T||| 2273 0.453874 0.6505 0.3055 5008 , , NA 19054 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 T 2702,1704 510.3+/-367.5 839,1024,340 144 159 154 3291 -0.4 1 17 dbSNP_111 154 2477,6123 696.0+/-404.8 347,1783,2170 no coding-synonymous QRICH2 NM_032134.1 1186,2807,2510 TT,TC,CC 28.8023,38.6745,39.8201 1097/1664 74286082 5179,7827 2203 4300 6503 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.3291G>A chr17.hg19:g.74286082C>T NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 8.303442 TTTxTCC COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 13 24.545151 KEEP 0 1 9 85 3058 CC 1 1 0 - 8 60 283 0 0 16.862978 235 60 8566 455 ENST00000262765.5 0.032922 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74286106 74286106 __UNKNOWN__ Silent SNP C C T rs4789274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74286106C>T ENST00000262765.5 - 5 3446 c.3267G>A c.(3265-3267)acG>acA p.T1089T NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1089 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTTTGGCTAGCGTCTTTACGG 0.443 NA C||| 2274 0.454073 0.6513 0.3055 5008 , , NA 19307 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 C 2705,1701 653.9+/-399.7 839,1027,337 138 157 151 3267 -8.9 0 17 dbSNP_111 151 2481,6119 406.4+/-348.8 347,1787,2166 no coding-synonymous QRICH2 NM_032134.1 1186,2814,2503 TT,TC,CC 28.8488,38.6064,39.8739 1089/1664 74286106 5186,7820 2203 4300 6503 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.3267G>A chr17.hg19:g.74286106C>T NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 10.429771 TAGxGTC COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 13 24.979039 KEEP 0 0 0 83 2791 CC 1 1 0 - 9 60 323 0 0 19.412135 265 60 9229 496 ENST00000262765.5 0.032847 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74287204 74287204 __UNKNOWN__ Missense_Mutation SNP C C G rs2279052 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74287204C>G ENST00000262765.5 - 4 3285 c.3106G>C c.(3106-3108)Gag>Cag p.E1036Q NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1036 NA E -> Q (in dbSNP:rs2279052). {ECO:0000269|PubMed:14702039}. breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTACTGAGCTCTCCCATCAGA 0.532 NA C||| 2082 0.415735 0.5113 0.2939 5008 , , NA 19627 0.5734 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 C GLN/GLU 2167,2239 585.7+/-386.3 531,1105,567 115 112 113 3106 5.5 0.3 17 dbSNP_100 113 2475,6125 406.0+/-348.7 346,1783,2171 yes missense QRICH2 NM_032134.1 29 877,2888,2738 GG,GC,CC 28.7791,49.1829,35.6912 probably-damaging 1036/1664 74287204 4642,8364 2203 4300 6503 SO:0001583 missense AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.3106G>C chr17.hg19:g.74287204C>G ENSP00000262765:p.Glu1036Gln NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 9.798538 GCTxTCC COVERED 895 0.4097985347985348 265 0.5386178861788617 101 0.27900552486187846 333 0.5821678321678322 196 0.25857519788918204 C 11.06 1.528788 0.27387 0.491829 0.287791 ENSG00000129646 ENST00000262765;ENST00000447564;ENST00000301613 T;T 0.53857 2.7;0.6 5.54 5.54 0.83059 . . . . . T 0.00012 0.0000 N 0.20986 0.625 0.37391 P 0.08755999999999997 D;P 0.55605 0.972;0.938 D;P 0.65140 0.932;0.636 T 0.49322 -0.8952 8 0.45353 T 0.12 -19.3391 14.9968 0.71439 0.0:1.0:0.0:0.0 rs2279052;rs52800512;rs2279052 1036;1036 B5MD94;Q9H0J4 .;QRIC2_HUMAN Q 1036;44;1036 ENSP00000262765:E1036Q;ENSP00000394461:E44Q ENSP00000262765:E1036Q E - 1 0 QRICH2 71798799 0.976000 0.34144 0.280000 0.24747 0.101000 0.19017 3.799000 0.55529 2.610000 0.88304 0.555000 0.69702 GAG NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 2 16.553675 KEEP 0 0 0 55 1961 CC 1 1 0 - 12 60 470 0 0 32.72725 199 60 7598 329 ENST00000262765.5 0.056872 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74287389 74287389 __UNKNOWN__ Missense_Mutation SNP T T C rs2279053 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74287389T>C ENST00000262765.5 - 4 3100 c.2921A>G c.(2920-2922)cAt>cGt p.H974R NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 974 NA H -> R (in dbSNP:rs2279053). breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 AGGAATTCCATGTCGGTCCGA 0.527 NA C||| 2350 0.469249 0.7065 0.3098 5008 , , NA 19962 0.5734 NA 0.2744 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 C ARG/HIS 2927,1479 472.8+/-356.5 979,969,255 68 68 68 2921 -9.4 0 17 dbSNP_100 68 2483,6117 696.2+/-404.9 348,1787,2165 yes missense QRICH2 NM_032134.1 29 1327,2756,2420 CC,CT,TT 28.8721,33.5679,41.5962 benign 974/1664 74287389 5410,7596 2203 4300 6503 SO:0001583 missense AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.2921A>G chr17.hg19:g.74287389T>C ENSP00000262765:p.His974Arg NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 3.831226 CCAxGTC COVERED 984 0.45054945054945056 350 0.7113821138211383 106 0.292817679558011 333 0.5821678321678322 195 0.25725593667546176 C 2.659 -0.280104 0.05642 0.664321 0.288721 ENSG00000129646 ENST00000262765;ENST00000301613 T 0.08102 3.13 4.68 -9.36 0.00629 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.31696 -0.9934 8 0.19147 T 0.46 9.8215 1.7269 0.02924 0.4102:0.2666:0.0962:0.2269 rs2279053;rs56708258;rs2279053 974;974 B5MD94;Q9H0J4 .;QRIC2_HUMAN R 974 ENSP00000262765:H974R ENSP00000262765:H974R H - 2 0 QRICH2 71798984 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.988000 0.03739 -2.936000 0.00299 -3.824000 0.00019 CAT NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 0 8.423984 KEEP 0 0 0 28 842 TT 0.999997 0.999997 0 - 5 60 183 0 0 11.291896 137 60 4940 195 ENST00000262765.5 0.035211 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74287594 74287594 __UNKNOWN__ Missense_Mutation SNP G G A rs2279054 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74287594G>A ENST00000262765.5 - 4 2895 c.2716C>T c.(2716-2718)Cac>Tac p.H906Y NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 906 NA H -> Y (in dbSNP:rs2279054). breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TGATCTGGGTGTGTAGATCCC 0.512 NA G||| 2043 0.407947 0.4955 0.2925 5008 , , NA 19958 0.5714 NA 0.2704 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 G TYR/HIS 2114,2292 578.5+/-384.7 507,1100,596 129 110 116 2716 1 0 17 dbSNP_100 116 2414,6186 398.9+/-346.3 329,1756,2215 yes missense QRICH2 NM_032134.1 83 836,2856,2811 AA,AG,GG 28.0698,47.98,34.8147 benign 906/1664 74287594 4528,8478 2203 4300 6503 SO:0001583 missense AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.2716C>T chr17.hg19:g.74287594G>A ENSP00000262765:p.His906Tyr NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 4.347435 GGTxTGT COVERED 874 0.4001831501831502 250 0.508130081300813 100 0.27624309392265195 332 0.5804195804195804 192 0.2532981530343008 G 10.16 1.273492 0.23221 0.4798 0.280698 ENSG00000129646 ENST00000262765;ENST00000301613 T 0.08458 3.09 4.65 0.958 0.19619 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 P;P 0.47604 0.898;0.898 B;B 0.43867 0.434;0.434 T 0.24977 -1.0145 8 0.56958 D 0.05 1.1817 6.476 0.22037 0.1089:0.4498:0.4413:0.0 rs2279054;rs52813589;rs59976711;rs2279054 906;906 B5MD94;Q9H0J4 .;QRIC2_HUMAN Y 906 ENSP00000262765:H906Y ENSP00000262765:H906Y H - 1 0 QRICH2 71799189 0.195000 0.23338 0.000000 0.03702 0.036000 0.12997 -0.210000 0.09345 0.475000 0.27415 0.462000 0.41574 CAC NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 3 6.456508 KEEP 0 1 33 33 1182 GG 0.999998 0.999998 0 - 12 60 437 0 0 31.646892 128 60 4680 214 ENST00000262765.5 0.085714 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74288262 74288262 __UNKNOWN__ Missense_Mutation SNP T T C rs3826286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74288262T>C ENST00000262765.5 - 4 2227 c.2048A>G c.(2047-2049)cAt>cGt p.H683R NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 683 Gln-rich. NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 gaccaaaccatgctgaactgc 0.557 NA T||| 2387 0.476637 0.7095 0.3184 5008 , , NA 27521 0.5724 NA 0.2783 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 C ARG/HIS 2928,1478 470.0+/-355.6 982,964,257 93 90 91 2048 -9.1 0 17 dbSNP_107 91 2541,6059 691.9+/-404.5 363,1815,2122 yes missense QRICH2 NM_032134.1 29 1345,2779,2379 CC,CT,TT 29.5465,33.5452,42.0498 benign 683/1664 74288262 5469,7537 2203 4300 6503 SO:0001583 missense AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.2048A>G chr17.hg19:g.74288262T>C ENSP00000262765:p.His683Arg NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 3.778268 CCAxGCT COVERED 921 0.4217032967032967 302 0.6138211382113821 116 0.32044198895027626 311 0.5437062937062938 192 0.2532981530343008 C 8.136 0.784238 0.16189 0.664548 0.295465 ENSG00000129646 ENST00000262765;ENST00000301613 T 0.20881 2.04 4.68 -9.11 0.00711 . . . . . T 0.00012 0.0000 N 0.04508 -0.205 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.39742 -0.9599 8 0.25106 T 0.35 2.0741 7.339 0.26625 0.1275:0.5667:0.1313:0.1744 rs3826286 683;683 B5MD94;Q9H0J4 .;QRIC2_HUMAN R 683 ENSP00000262765:H683R ENSP00000262765:H683R H - 2 0 QRICH2 71799857 0.000000 0.05858 0.000000 0.03702 0.077000 0.17291 -10.158000 0.00007 -2.087000 0.00862 -1.132000 0.01976 CAT NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 3 10.522139 KEEP 0 0 0 35 1043 TT 0.999999 0.999999 0 - 12 60 399 0 0 27.551257 136 60 4795 215 ENST00000262765.5 0.081081 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74289500 74289500 __UNKNOWN__ Silent SNP G G A rs3803737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74289500G>A ENST00000262765.5 - 4 989 c.810C>T c.(808-810)gtC>gtT p.V270V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 270 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GCTCATCCACGACAAATGGTA 0.517 NA G||| 2351 0.469449 0.7073 0.3098 5008 , , NA 26072 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 G 2925,1481 679.3+/-403.7 976,973,254 138 115 122 810 0.2 0 17 dbSNP_107 122 2483,6117 406.9+/-349.0 347,1789,2164 no coding-synonymous QRICH2 NM_032134.1 1323,2762,2418 AA,AG,GG 28.8721,33.6133,41.5808 270/1664 74289500 5408,7598 2203 4300 6503 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.810C>T chr17.hg19:g.74289500G>A NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 11.215592 CACxACA COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 1 4.841785 KEEP 0 1 28 26 852 GG 0.999988 0.999988 0 - 14 60 517 0 0 34.595833 251 60 8540 335 ENST00000262765.5 0.05283 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74289705 74289705 __UNKNOWN__ Missense_Mutation SNP A A G rs6501880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74289705A>G ENST00000262765.5 - 4 784 c.605T>C c.(604-606)tTg>tCg p.L202S NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 202 NA L -> S (in dbSNP:rs6501880). breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GTCTCTGGCCAAGGGTAAGTC 0.522 NA G||| 2317 0.46266 0.6815 0.3084 5008 , , NA 24481 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 G SER/LEU 2837,1569 489.0+/-361.4 920,997,286 132 101 111 605 -4.5 0 17 dbSNP_116 111 2486,6114 696.3+/-404.9 348,1790,2162 yes missense QRICH2 NM_032134.1 145 1268,2787,2448 GG,GA,AA 28.907,35.6105,40.9273 benign 202/1664 74289705 5323,7683 2203 4300 6503 SO:0001583 missense AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.605T>C chr17.hg19:g.74289705A>G ENSP00000262765:p.Leu202Ser NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 21.239917 GCCxAGG COVERED 971 0.44459706959706957 337 0.6849593495934959 106 0.292817679558011 332 0.5804195804195804 196 0.25857519788918204 G 3.851 -0.031778 0.07543 0.643895 0.28907 ENSG00000129646 ENST00000262765;ENST00000301613 T 0.17691 2.26 3.69 -4.53 0.03462 . . . . . T 0.00012 0.0000 N 0.12569 0.235 0.80722 P 0.0 B;B 0.09022 0.002;0.0 B;B 0.06405 0.001;0.002 T 0.35549 -0.9784 8 0.07813 T 0.8 . 7.1823 0.25780 0.6822:0.0:0.17:0.1478 rs6501880;rs60042941;rs6501880 202;202 B5MD94;Q9H0J4 .;QRIC2_HUMAN S 202 ENSP00000262765:L202S ENSP00000262765:L202S L - 2 0 QRICH2 71801300 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.980000 0.03770 -1.269000 0.02436 -1.945000 0.00491 TTG NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 4 13.272796 KEEP 0 1 34 56 1713 AA 1 1 0 - 22 60 778 0 0 48.59227 507 60 18484 695 ENST00000262765.5 0.041588 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74289839 74289839 __UNKNOWN__ Silent SNP G G A rs6501881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74289839G>A ENST00000262765.5 - 4 650 c.471C>T c.(469-471)ggC>ggT p.G157G NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 157 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GTCGTGGCACGCCAGCTTCAT 0.532 NA G||| 2351 0.469449 0.7073 0.3098 5008 , , NA 21092 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 G 2926,1480 678.2+/-403.5 977,972,254 74 71 72 471 0.9 0 17 dbSNP_116 72 2485,6115 407.0+/-349.0 348,1789,2163 no coding-synonymous QRICH2 NM_032134.1 1325,2761,2417 AA,AG,GG 28.8953,33.5906,41.6039 157/1664 74289839 5411,7595 2203 4300 6503 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.471C>T chr17.hg19:g.74289839G>A NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 14.100288 CACxCCA COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 3 18.659879 KEEP 0 0 0 62 2168 GG 1 1 0 - 12 60 407 0 0 23.560363 351 60 12196 503 ENST00000262765.5 0.033058 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74289875 74289875 __UNKNOWN__ Silent SNP C C T rs6501882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74289875C>T ENST00000262765.5 - 4 614 c.435G>A c.(433-435)ggG>ggA p.G145G NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 145 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 GCTGCTGTCTCCCAGTACCAG 0.562 NA C||| 2351 0.469449 0.7073 0.3098 5008 , , NA 19445 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 C 2925,1481 678.2+/-403.5 977,971,255 57 59 58 435 -5.1 0 17 dbSNP_116 58 2485,6115 405.8+/-348.6 347,1791,2162 no coding-synonymous QRICH2 NM_032134.1 1324,2762,2417 TT,TC,CC 28.8953,33.6133,41.5962 145/1664 74289875 5410,7596 2203 4300 6503 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.435G>A chr17.hg19:g.74289875C>T NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 12.305267 TCTxCCA COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 1 18.358117 KEEP 0 0 0 61 2067 CC 1 1 0 - 9 60 323 0 0 18.821135 309 60 11422 450 ENST00000262765.5 0.028302 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74289908 74289908 __UNKNOWN__ Silent SNP A A G rs6501883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74289908A>G ENST00000262765.5 - 4 581 c.402T>C c.(400-402)agT>agC p.S134S NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 134 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TTTGTTCCCTACTGGAAACCC 0.582 NA A||| 2351 0.469449 0.7073 0.3098 5008 , , NA 18812 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 A 2926,1480 679.0+/-403.6 977,972,254 59 60 60 402 -0.2 0 17 dbSNP_116 60 2485,6115 407.1+/-349.0 347,1791,2162 no coding-synonymous QRICH2 NM_032134.1 1324,2763,2416 GG,GA,AA 28.8953,33.5906,41.6039 134/1664 74289908 5411,7595 2203 4300 6503 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.402T>C chr17.hg19:g.74289908A>G NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 14.432134 CCTxCTG COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 0 20.158307 KEEP 0 0 0 67 2044 AA 1 1 0 - 10 60 381 0 0 23.793436 293 60 10278 432 ENST00000262765.5 0.033003 1 QRICH2 84074 __UNKNOWN__ __UNKNOWN__ 17 74290097 74290097 __UNKNOWN__ Silent SNP T T A rs7225131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74290097T>A ENST00000262765.5 - 4 392 c.213A>T c.(211-213)tcA>tcT p.S71S NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 71 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TAAGTGTTTCTGAGCCCTGGT 0.428 NA T||| 2352 0.469649 0.7073 0.3098 5008 , , NA 20370 0.5724 NA 0.2753 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 T 2922,1482 654.3+/-399.7 975,972,255 63 71 69 213 -1.3 0.1 17 dbSNP_116 69 2487,6111 384.7+/-341.2 349,1789,2161 no coding-synonymous QRICH2 NM_032134.1 1324,2761,2416 AA,AT,TT 28.9253,33.6512,41.6013 71/1664 74290097 5409,7593 2202 4299 6501 SO:0001819 synonymous_variant AK058102 CCDS32741.1 17q25.1 2009-03-19 ENSG00000129646 ENSG00000129646 84074 25326 protein-coding gene gene with protein product NA Standard NM_032134 NM_032134 NA Approved DKFZP434P0316 uc002jrd.1 Q9H0J4 OTTHUMG00000167578 ENST00000262765.5:c.213A>T chr17.hg19:g.74290097T>A NA A2RRE1|Q96LM3 hg19 CCDS32741.1 0.02 6.270358 TTCxGAG COVERED NOVEL QRICH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000395140.1 6 5.651706 KEEP 0 1 32 30 955 TT 0.999997 0.999997 0 - 13 60 473 0 0 32.82617 180 60 6687 261 ENST00000262765.5 0.067358 1 CYGB 114757 __UNKNOWN__ __UNKNOWN__ 17 74524651 74524651 __UNKNOWN__ Missense_Mutation SNP T T G rs4238995|rs376307503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74524651T>G ENST00000589342.1 - 3 527 c.418A>C c.(418-420)Act>Cct p.T140P CYGB_ENST00000293230.5_3'UTR|CYGB_ENST00000586160.1_5'UTR|CYGB_ENST00000590175.1_3'UTR|CYGB_ENST00000589145.1_3'UTR|PRCD_ENST00000592432.1_Intron Q8WWM9 CYGB_HUMAN cytoglobin 0 Globin. NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 GGGGGTGGAGTTAGGGGTCCT 0.622 NA G||| 2242 0.447684 0.3601 0.5922 5008 , , NA 16074 0.5754 NA 0.4592 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 G 1677,2705 380,917,894 34 31 32 2.1 0 17 dbSNP_131 32 3536,5016 883,1770,1623 no utr-3 CYGB NM_134268.3 1263,2687,2517 GG,GT,TT 41.3471,38.2702,40.3046 74524651 5213,7721 2191 4276 6467 SO:0001583 missense AJ315162 CCDS11746.1 17q25 2008-07-18 ENSG00000161544 114757 16505 protein-coding gene gene with protein product stellate cell activation-associated protein, histoglobin 608759 NA 11919282 Standard NM_134268 NM_134268 NA Approved HGB, STAP uc002jru.2 Q8WWM9 ENST00000589342.1:c.418A>C chr17.hg19:g.74524651T>G ENSP00000466448:p.Thr140Pro NA Q541Y7|Q8N2X5 hg19 0.02 2.311948 GAGxTAG COVERED NOVEL CYGB-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450592.1 0 17.686768 KEEP 0 1 38 72 2214 TT 1 0.998867 0 - 7 60 262 0 0 19.355043 70 60 2412 196 ENST00000589342.1 0.090909 0.998867 CYGB 114757 __UNKNOWN__ __UNKNOWN__ 17 74524652 74524652 __UNKNOWN__ Silent SNP T T G rs8077736|rs376307503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74524652T>G ENST00000589342.1 - 3 526 c.417A>C c.(415-417)ctA>ctC p.L139L CYGB_ENST00000293230.5_3'UTR|CYGB_ENST00000586160.1_5'UTR|CYGB_ENST00000590175.1_3'UTR|CYGB_ENST00000589145.1_3'UTR|PRCD_ENST00000592432.1_Intron Q8WWM9 CYGB_HUMAN cytoglobin 0 Globin. NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 GGGGTGGAGTTAGGGGTCCTA 0.622 NA G||| 2238 0.446885 0.3585 0.5908 5008 , , NA 15974 0.5754 NA 0.4592 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 G 1667,2715 377,913,901 35 32 33 0.1 0 17 dbSNP_116 33 3541,5011 886,1769,1621 no utr-3 CYGB NM_134268.3 1263,2682,2522 GG,GT,TT 41.4055,38.042,40.266 74524652 5208,7726 2191 4276 6467 SO:0001819 synonymous_variant AJ315162 CCDS11746.1 17q25 2008-07-18 ENSG00000161544 114757 16505 protein-coding gene gene with protein product stellate cell activation-associated protein, histoglobin 608759 NA 11919282 Standard NM_134268 NM_134268 NA Approved HGB, STAP uc002jru.2 Q8WWM9 ENST00000589342.1:c.417A>C chr17.hg19:g.74524652T>G NA Q541Y7|Q8N2X5 hg19 0.02 2.320661 AGTxAGG COVERED NOVEL CYGB-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450592.1 0 17.151085 KEEP 0 1 37 70 2007 TT 1 0.998696 0 - 7 60 271 0 0 20.295957 69 60 2414 193 ENST00000589342.1 0.092105 0.998696 CYGB 114757 __UNKNOWN__ __UNKNOWN__ 17 74541129 74541129 __UNKNOWN__ Intron SNP A A G rs4232870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74541129A>G ENST00000589145.1 - 1 314 PRCD_ENST00000592432.1_Intron Q8WWM9 CYGB_HUMAN cytoglobin NA NA oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979) cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1) 7 CTGGGGTGCCATGTGGGCCGG 0.682 NA a||| 2397 0.478634 0.0764 0.6499 5008 , , NA 12145 0.7391 NA 0.5865 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ315162 CCDS11746.1 17q25 2008-07-18 ENSG00000161544 114757 16505 protein-coding gene gene with protein product stellate cell activation-associated protein, histoglobin 608759 NA 11919282 Standard NM_134268 NM_134268 NA Approved HGB, STAP uc002jru.2 Q8WWM9 ENST00000589145.1:c.51+5814T>C chr17.hg19:g.74541129A>G NA Q541Y7|Q8N2X5 hg19 0.02 -0.438645 GCCxTGT COVERED NOVEL CYGB-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450594.1 1 12.030594 KEEP 0 0 0 40 1157 AA 1 0.959859 0 - 5 60 179 0 0 13.228026 45 60 1592 108 ENST00000589145.1 0.1 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 74559687 74559687 __UNKNOWN__ IGR SNP C C G rs201470689 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74559687C>G NA NA SNHG16 (1900 upstream) : ST6GALNAC2 (1773 downstream) NA NA NA CCGCAGAGTGCCTTCCAGGAA 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.74559687C>G NA hg19 0.02 25.238097 GTGxCTT COVERED NOVEL 0 3 22.819589 KEEP 2 4 147 127 4463 CC 1 1 0 26 40 930 0 0 59.693041 546 60 20116 783 0.045455 1 MXRA7 439921 __UNKNOWN__ __UNKNOWN__ 17 74681272 74681272 __UNKNOWN__ Intron SNP G G T rs78973581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74681272G>T ENST00000355797.3 - 3 415 MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000589082.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000375036.2_Intron NM_001008528.1 NP_001008528.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 NA NA integral component of membrane (GO:0016021) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CCCAGTAAGTGCCAGGAGTGC 0.547 NA G||| 215 0.0429313 0.0015 0.0231 5008 , , NA 14385 0.1091 NA 0.003 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 G ,, 16,4390 23.3+/-48.9 0,16,2187 64 63 63 ,, 2.6 0.1 17 dbSNP_132 63 5,8595 3.7+/-12.6 0,5,4295 no intron,intron,intron MXRA7 NM_001008528.1,NM_001008529.1,NM_198530.2 ,, 0,21,6482 TT,TG,GG 0.0581,0.3631,0.1615 ,, ,, 74681272 21,12985 2203 4300 6503 SO:0001627 intron_variant BC053983 CCDS32745.1, CCDS32746.1, CCDS45786.1 17q25.1 2007-08-01 ENSG00000182534 439921 7541 protein-coding gene gene with protein product NA Standard NM_001008529 XM_005257382 NA Approved FLJ46603, TMAP1, PS1TP1 uc002jsk.1 P84157 ENST00000355797.3:c.407-25C>A chr17.hg19:g.74681272G>T NA Q0P5W3 hg19 CCDS32745.1 0.02 3.613732 AGTxCCA COVERED NOVEL MXRA7-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000450983.1 1 25.555298 KEEP 0 0 0 85 2975 GG 1 1 0 - 5 60 176 0 0 10.561801 139 60 5216 310 ENST00000355797.3 0.034722 1 SRSF2 6427 __UNKNOWN__ __UNKNOWN__ 17 74733060 74733060 __UNKNOWN__ Silent SNP G G A rs200354490 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74733060G>A ENST00000392485.2 - 1 355 c.183C>T c.(181-183)cgC>cgT p.R61R MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Silent_p.R61R|MFSD11_ENST00000588460.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Silent_p.R61R NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 61 RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}. NA gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714) haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 TGTCGTGAAAGCGAACGAAGG 0.682 NA Mis MDS, CLL G||| 7 0.00139776 0.0 0.0 5008 , , NA 14151 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes 17 17q25 6427 serine/arginine-rich splicing factor 2 L 0 G ,, 0,4400 0,0,2200 29 35 33 183,,183 1.5 1 17 33 2,8598 2.2+/-6.3 0,2,4298 no coding-synonymous,utr-5,coding-synonymous SRSF2,MFSD11 NM_001195427.1,NM_001242534.1,NM_003016.4 ,, 0,2,6498 AA,AG,GG 0.0233,0.0,0.0154 ,, 61/222,,61/222 74733060 2,12998 2200 4300 6500 SO:0001819 synonymous_variant M90104 CCDS11749.1 17q25.2 2014-09-17 2010-06-22 2010-06-22 ENSG00000161547 ENSG00000161547 6427 Serine/arginine-rich splicing factors, RNA binding motif (RRM) containing 10783 protein-coding gene gene with protein product SR splicing factor 2 600813 splicing factor, arginine/serine-rich 2 SFRS2 NA 8530103, 20516191 Standard NM_003016 NM_003016 NA Approved SC-35, SC35, PR264, SFRS2A uc002jsv.3 Q01130 ENST00000392485.2:c.183C>T chr17.hg19:g.74733060G>A NA B3KWD5|B4DN89|H0YG49 hg19 CCDS11749.1 0.02 12.390104 AAAxCGA COVERED NOVEL SRSF2-003 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437489.1 2 101.3837 KEEP 0 0 0 337 12090 GG 1 1 0 - 15 60 528 0 0 34.086343 286 60 10660 841 ENST00000392485.2 0.049834 1 MGAT5B 146664 __UNKNOWN__ __UNKNOWN__ 17 74922706 74922706 __UNKNOWN__ Silent SNP C C T rs33966966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74922706C>T ENST00000569840.2 + 10 1759 c.1185C>T c.(1183-1185)ttC>ttT p.F395F MGAT5B_ENST00000301618.4_Silent_p.F395F|MGAT5B_ENST00000428789.2_Silent_p.F406F NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 395 NA protein N-linked glycosylation (GO:0006487) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCGACACCTTCGGGACGGAAC 0.637 NA C||| 1220 0.24361 0.1271 0.2032 5008 , , NA 20909 0.4117 NA 0.2038 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 C ,, 625,3777 267.7+/-268.0 44,537,1620 83 68 73 1185,1185,1218 -2.9 1 17 dbSNP_126 73 1469,7121 280.2+/-294.4 140,1189,2966 no coding-synonymous,coding-synonymous,coding-synonymous MGAT5B NM_001199172.1,NM_144677.2,NM_198955.1 ,, 184,1726,4586 TT,TC,CC 17.1013,14.1981,16.1176 ,, 395/793,395/791,406/802 74922706 2094,10898 2201 4295 6496 SO:0001819 synonymous_variant AB109185 CCDS11751.1, CCDS45788.1, CCDS59299.1 17q25.3 2013-02-25 2005-11-16 ENSG00000167889 ENSG00000167889 146664 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 24140 protein-coding gene gene with protein product 612441 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B NA 14617637, 14623122 Standard NM_144677 NM_001199172 NA Approved GnT-IX, FLJ25132, GnT-VB uc002jth.3 Q3V5L5 OTTHUMG00000177278 ENST00000569840.2:c.1185C>T chr17.hg19:g.74922706C>T NA Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2 hg19 CCDS59299.1 0.02 6.070118 CTTxGGG COVERED NOVEL MGAT5B-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460624.2 2 9.631347 KEEP 0 0 0 32 1142 CC 0.999997 0.999997 0 + 6 60 206 0 0 12.426217 150 60 5583 231 ENST00000569840.2 0.038462 1 MGAT5B 146664 __UNKNOWN__ __UNKNOWN__ 17 74928758 74928758 __UNKNOWN__ Silent SNP C C T rs79286496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74928758C>T ENST00000569840.2 + 11 1897 c.1323C>T c.(1321-1323)ttC>ttT p.F441F MGAT5B_ENST00000301618.4_Silent_p.F441F|MGAT5B_ENST00000428789.2_Silent_p.F452F NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 441 NA protein N-linked glycosylation (GO:0006487) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCATGGGCTTCGTGTCCGAGG 0.622 NA C||| 1054 0.210463 0.1135 0.1441 5008 , , NA 14629 0.3631 NA 0.1909 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 C ,, 550,3856 246.8+/-255.3 35,480,1688 103 89 94 1323,1323,1356 3 1 17 dbSNP_131 94 1457,7143 279.5+/-294.0 127,1203,2970 no coding-synonymous,coding-synonymous,coding-synonymous MGAT5B NM_001199172.1,NM_144677.2,NM_198955.1 ,, 162,1683,4658 TT,TC,CC 16.9419,12.483,15.4313 ,, 441/793,441/791,452/802 74928758 2007,10999 2203 4300 6503 SO:0001819 synonymous_variant AB109185 CCDS11751.1, CCDS45788.1, CCDS59299.1 17q25.3 2013-02-25 2005-11-16 ENSG00000167889 ENSG00000167889 146664 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 24140 protein-coding gene gene with protein product 612441 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B NA 14617637, 14623122 Standard NM_144677 NM_001199172 NA Approved GnT-IX, FLJ25132, GnT-VB uc002jth.3 Q3V5L5 OTTHUMG00000177278 ENST00000569840.2:c.1323C>T chr17.hg19:g.74928758C>T NA Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2 hg19 CCDS59299.1 0.02 15.58995 CTTxGTG COVERED NOVEL MGAT5B-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460624.2 1 14.450707 KEEP 0 3 94 81 2809 CC 1 1 0 + 22 60 806 0 0 54.666833 356 60 12849 589 ENST00000569840.2 0.058201 1 MGAT5B 146664 __UNKNOWN__ __UNKNOWN__ 17 74928921 74928921 __UNKNOWN__ Intron SNP C C T rs77352627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:74928921C>T ENST00000569840.2 + 11 1996 MGAT5B_ENST00000301618.4_Intron|MGAT5B_ENST00000428789.2_Intron NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B NA NA protein N-linked glycosylation (GO:0006487) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCTGGGTCCCGCATCTCCTC 0.657 NA C||| 1053 0.210264 0.1059 0.1427 5008 , , NA 13063 0.373 NA 0.1918 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB109185 CCDS11751.1, CCDS45788.1, CCDS59299.1 17q25.3 2013-02-25 2005-11-16 ENSG00000167889 ENSG00000167889 146664 Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases 24140 protein-coding gene gene with protein product 612441 mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B NA 14617637, 14623122 Standard NM_144677 NM_001199172 NA Approved GnT-IX, FLJ25132, GnT-VB uc002jth.3 Q3V5L5 OTTHUMG00000177278 ENST00000569840.2:c.1422+64C>T chr17.hg19:g.74928921C>T NA Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2 hg19 CCDS59299.1 0.02 1.877508 TCCxGCA COVERED NOVEL MGAT5B-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460624.2 1 2.379205 KEEP 0 1 31 19 584 CC 0.999863 0.99918 0 + 6 60 201 0 0 13.680652 75 60 2374 106 ENST00000569840.2 0.074074 0.999317 TNRC6C 57690 __UNKNOWN__ __UNKNOWN__ 17 76046612 76046612 __UNKNOWN__ Missense_Mutation SNP G G C rs146017016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76046612G>C ENST00000588847.1 + 5 2196 c.1469G>C c.(1468-1470)gGg>gCg p.G490A TNRC6C_ENST00000588061.1_Missense_Mutation_p.G490A|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G490A|TNRC6C_ENST00000541771.1_Missense_Mutation_p.G490A|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G490A|TNRC6C_ENST00000335749.4_Missense_Mutation_p.G490A Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 490 Sufficient for interaction with argonaute family proteins. NA embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964) cytosol (GO:0005829) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TCAAACTCAGGGGGGAAGAAC 0.522 NA G||| 7 0.00139776 0.0 0.0 5008 , , NA 19748 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 58 62 61 NA NA 17 NA 76046612 1973 4166 6139 SO:0001583 missense AL834429 CCDS45798.1, CCDS45799.1 17q25.3 2012-10-04 ENSG00000078687 ENSG00000078687 57690 Trinucleotide (CAG) repeat containing 29318 protein-coding gene gene with protein product 610741 NA Standard NM_018996 NM_018996 NA Approved KIAA1582, FLJ20015 uc002juf.2 Q9HCJ0 OTTHUMG00000132642 ENST00000588847.1:c.1469G>C chr17.hg19:g.76046612G>C ENSP00000467154:p.Gly490Ala NA G3XAB8|Q86UE5|Q8N3D8|Q96MU9 hg19 CCDS45799.1 0.02 13.216495 CAGxGGG COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 G 15.36 2.811166 0.50527 . . ENSG00000078687 ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502 T;T;T;T 0.22336 1.99;1.96;1.96;1.99 5.07 5.07 0.68467 . 0.273633 0.41938 D 0.000797 T 0.40473 0.1118 M 0.76574 2.34 0.47949 D 0.999551 D;D;P 0.89917 1.0;1.0;0.881 D;D;P 0.91635 0.998;0.999;0.471 T 0.33266 -0.9875 10 0.44086 T 0.13 -7.308 18.6486 0.91421 0.0:0.0:1.0:0.0 . 490;490;490 G3XAB8;Q9HCJ0-2;Q9HCJ0 .;.;TNR6C_HUMAN A 490 ENSP00000336783:G490A;ENSP00000301624:G490A;ENSP00000440310:G490A;ENSP00000442421:G490A ENSP00000301624:G490A G + 2 0 TNRC6C 73558207 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 5.340000 0.65958 2.644000 0.89710 0.563000 0.77884 GGG NOVEL TNRC6C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255891.4 1 20.766992 KEEP 0 0 0 69 2432 GG 1 1 0 + 20 60 707 0 0 48.079324 289 60 10596 461 ENST00000588847.1 0.064725 1 TNRC6C 57690 __UNKNOWN__ __UNKNOWN__ 17 76089634 76089634 __UNKNOWN__ Intron SNP T T C rs16970810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76089634T>C ENST00000588847.1 + 18 4880 TNRC6C_ENST00000588061.1_Intron|TNRC6C_ENST00000301624.4_Intron|TNRC6C_ENST00000541771.1_Intron|TNRC6C_ENST00000544502.1_Intron|TNRC6C_ENST00000335749.4_Intron Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C NA NA embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964) cytosol (GO:0005829) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AAAACATCTTTTAAAATTTCG 0.353 NA T||| 783 0.15635 0.2254 0.1902 5008 , , NA 21228 0.1429 NA 0.0676 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL834429 CCDS45798.1, CCDS45799.1 17q25.3 2012-10-04 ENSG00000078687 ENSG00000078687 57690 Trinucleotide (CAG) repeat containing 29318 protein-coding gene gene with protein product 610741 NA Standard NM_018996 NM_018996 NA Approved KIAA1582, FLJ20015 uc002juf.2 Q9HCJ0 OTTHUMG00000132642 ENST00000588847.1:c.4154-67T>C chr17.hg19:g.76089634T>C NA G3XAB8|Q86UE5|Q8N3D8|Q96MU9 hg19 CCDS45799.1 0.02 12.235778 CTTxTAA COVERED NOVEL TNRC6C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255891.4 0 12.635918 KEEP 0 0 0 42 1265 TT 1 1 0 + 20 60 759 0 0 55.146085 231 60 8276 342 ENST00000588847.1 0.079681 1 TNRC6C 57690 __UNKNOWN__ __UNKNOWN__ 17 76093866 76093866 __UNKNOWN__ Silent SNP T T C rs2290906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76093866T>C ENST00000588847.1 + 19 5065 c.4338T>C c.(4336-4338)tcT>tcC p.S1446S TNRC6C_ENST00000588061.1_Intron|TNRC6C_ENST00000301624.4_Intron|TNRC6C_ENST00000541771.1_Intron|TNRC6C_ENST00000544502.1_Silent_p.S1446S|TNRC6C_ENST00000335749.4_Silent_p.S1446S Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1435 Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA. NA embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964) cytosol (GO:0005829) nucleotide binding (GO:0000166)|RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CGCTGCCTTCTTCGAGTGCCT 0.587 NA C||| 1470 0.29353 0.4107 0.2666 5008 , , NA 19861 0.2976 NA 0.1252 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 C , 489,895 86,317,289 43 40 41 4338, 2.6 1 17 dbSNP_100 41 468,2714 31,406,1154 no coding-synonymous,intron TNRC6C NM_001142640.1,NM_018996.3 , 117,723,1443 CC,CT,TT 14.7077,35.3324,20.9593 , 1446/1727, 76093866 957,3609 692 1591 2283 SO:0001819 synonymous_variant AL834429 CCDS45798.1, CCDS45799.1 17q25.3 2012-10-04 ENSG00000078687 ENSG00000078687 57690 Trinucleotide (CAG) repeat containing 29318 protein-coding gene gene with protein product 610741 NA Standard NM_018996 NM_018996 NA Approved KIAA1582, FLJ20015 uc002juf.2 Q9HCJ0 OTTHUMG00000132642 ENST00000588847.1:c.4338T>C chr17.hg19:g.76093866T>C NA G3XAB8|Q86UE5|Q8N3D8|Q96MU9 hg19 CCDS45799.1 0.02 7.123883 TTCxTCG COVERED NOVEL TNRC6C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255891.4 0 12.336714 KEEP 0 0 0 41 1284 TT 1 1 0 + 6 60 229 0 0 14.58922 158 60 5859 257 ENST00000588847.1 0.036585 1 TMC8 147138 __UNKNOWN__ __UNKNOWN__ 17 76128386 76128386 __UNKNOWN__ Intron SNP G G C rs1354985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76128386G>C ENST00000318430.5 + 4 672 TMC6_ENST00000322914.3_Intron|TMC8_ENST00000589691.1_Intron NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 NA NA ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) receptor binding (GO:0005102) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) GACTCTCAGCGCGGCCCCAGC 0.721 NA C||| 1812 0.361821 0.2156 0.366 5008 , , NA 9699 0.2937 NA 0.5427 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057380 CCDS32749.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000167895 ENSG00000167895 147138 20474 protein-coding gene gene with protein product 605829 epidermodysplasia verruciformis 2 EVER2 NA 12426567 Standard NM_152468 NA Approved EVIN2 uc002jup.2 Q8IU68 ENST00000318430.5:c.299-54G>C chr17.hg19:g.76128386G>C NA Q2YDC0|Q8IWU7|Q8N358|Q8NF04 hg19 CCDS32749.1 0.02 1.572853 AGCxCGG COVERED NOVEL TMC8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436900.3 2 3.77394 KEEP 0 2 64 35 1130 GG 1 0.999894 0 + 4 60 141 0 0 8.84737 89 60 2946 154 ENST00000318430.5 0.043011 0.999895 TMC8 147138 __UNKNOWN__ __UNKNOWN__ 17 76128662 76128662 __UNKNOWN__ Intron SNP G G C rs1396149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76128662G>C ENST00000318430.5 + 4 822 TMC8_ENST00000589691.1_Intron NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 NA NA ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) receptor binding (GO:0005102) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CCAGGGCCCAGAGCGTGGCGA 0.701 NA G||| 2271 0.453474 0.4138 0.4308 5008 , , NA 13590 0.3423 NA 0.5984 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057380 CCDS32749.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000167895 ENSG00000167895 147138 20474 protein-coding gene gene with protein product 605829 epidermodysplasia verruciformis 2 EVER2 NA 12426567 Standard NM_152468 NA Approved EVIN2 uc002jup.2 Q8IU68 ENST00000318430.5:c.448+73G>C chr17.hg19:g.76128662G>C NA Q2YDC0|Q8IWU7|Q8N358|Q8NF04 hg19 CCDS32749.1 0.02 1.798565 CCAxAGC COVERED NOVEL TMC8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436900.3 0 3.310442 KEEP 0 0 0 11 381 GG 0.993072 0.992909 0 + 4 60 150 0 0 9.804224 86 60 3179 107 ENST00000318430.5 0.044444 0.999835 TMC8 147138 __UNKNOWN__ __UNKNOWN__ 17 76129034 76129034 __UNKNOWN__ Intron SNP C C T rs60591028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76129034C>T ENST00000318430.5 + 5 905 TMC8_ENST00000589691.1_Intron NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 NA NA ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) receptor binding (GO:0005102) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) CTAAGAGGACCTCTGCTCCTC 0.592 NA C||| 430 0.0858626 0.1309 0.0634 5008 , , NA 17736 0.0843 NA 0.0775 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057380 CCDS32749.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000167895 ENSG00000167895 147138 20474 protein-coding gene gene with protein product 605829 epidermodysplasia verruciformis 2 EVER2 NA 12426567 Standard NM_152468 NA Approved EVIN2 uc002jup.2 Q8IU68 ENST00000318430.5:c.531+83C>T chr17.hg19:g.76129034C>T NA Q2YDC0|Q8IWU7|Q8N358|Q8NF04 hg19 CCDS32749.1 0.02 3.692681 GACxTCT COVERED NOVEL TMC8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436900.3 0 4.815993 KEEP 0 0 0 16 594 CC 0.997832 0.997831 0 + 7 60 247 0 0 16.088856 128 60 4800 167 ENST00000318430.5 0.051852 1 TMC8 147138 __UNKNOWN__ __UNKNOWN__ 17 76129360 76129360 __UNKNOWN__ Intron SNP C C T rs9889313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76129360C>T ENST00000318430.5 + 6 905 TMC8_ENST00000589691.1_Intron NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 NA NA ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) receptor binding (GO:0005102) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ctctgtgggcccttgtaagac 0.577 NA C||| 978 0.195288 0.3056 0.1196 5008 , , NA 18172 0.1438 NA 0.1421 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY057380 CCDS32749.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000167895 ENSG00000167895 147138 20474 protein-coding gene gene with protein product 605829 epidermodysplasia verruciformis 2 EVER2 NA 12426567 Standard NM_152468 NA Approved EVIN2 uc002jup.2 Q8IU68 ENST00000318430.5:c.532-127C>T chr17.hg19:g.76129360C>T NA Q2YDC0|Q8IWU7|Q8N358|Q8NF04 hg19 CCDS32749.1 0.02 2.20656 GGCxCTT COVERED NOVEL TMC8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436900.3 2 4.212954 KEEP 0 0 0 14 460 CC 0.995343 0.995179 0 + 7 60 269 0 0 19.666336 80 60 2865 112 ENST00000318430.5 0.08046 0.999835 TMC8 147138 __UNKNOWN__ __UNKNOWN__ 17 76130575 76130575 __UNKNOWN__ Missense_Mutation SNP A A T rs7208422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76130575A>T ENST00000318430.5 + 8 1291 c.917A>T c.(916-918)aAc>aTc p.N306I TMC8_ENST00000589691.1_Missense_Mutation_p.N83I NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 306 NA N -> I (in dbSNP:rs7208422). {ECO:0000269|Ref.3}. ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965) receptor binding (GO:0005102) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) AACGTACTCAACGGGCTCCTG 0.612 NA T||| 2766 0.552316 0.7126 0.5879 5008 , , NA 17585 0.4236 NA 0.4901 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 T ILE/ASN 3021,1385 449.2+/-349.0 1044,933,226 51 56 54 917 4.7 0.7 17 dbSNP_116 54 4209,4391 578.9+/-390.8 1055,2099,1146 yes missense TMC8 NM_152468.4 149 2099,3032,1372 TT,TA,AA 48.9419,31.4344,44.4103 benign 306/727 76130575 7230,5776 2203 4300 6503 SO:0001583 missense AY057380 CCDS32749.1 17q25.3 2014-09-17 2005-11-10 2005-11-10 ENSG00000167895 ENSG00000167895 147138 20474 protein-coding gene gene with protein product 605829 epidermodysplasia verruciformis 2 EVER2 NA 12426567 Standard NM_152468 NA Approved EVIN2 uc002jup.2 Q8IU68 ENST00000318430.5:c.917A>T chr17.hg19:g.76130575A>T ENSP00000325561:p.Asn306Ile NA Q2YDC0|Q8IWU7|Q8N358|Q8NF04 hg19 CCDS32749.1 0.02 16.994566 TCAxCGG COVERED 1186 0.543040293040293 339 0.6890243902439024 211 0.5828729281767956 264 0.46153846153846156 372 0.49076517150395776 T 0.194 -1.051025 0.01981 0.685656 0.489419 ENSG00000167895 ENST00000318430 T 0.59502 0.26 4.71 4.71 0.59529 . 0.193322 0.44483 N 0.000458 T 0.00012 0.0000 N 0.00119 -2.075 0.53005 P 3.2000000000032E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.43180 -0.9407 9 0.14656 T 0.56 -11.1433 9.0321 0.36264 0.1652:0.0:0.0:0.8348 rs7208422;rs7208422 306;306 A5D8Y4;Q8IU68 .;TMC8_HUMAN I 306 ENSP00000325561:N306I ENSP00000325561:N306I N + 2 0 TMC8 73642170 0.917000 0.31117 0.724000 0.30704 0.095000 0.18619 1.351000 0.34022 0.657000 0.30906 -0.364000 0.07487 AAC NOVEL TMC8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436900.3 3 30.687544 KEEP 0 0 0 102 3143 AA 1 1 0 + 25 60 855 0 0 56.581975 398 60 14159 674 ENST00000318430.5 0.059102 1 C17orf99 100141515 __UNKNOWN__ __UNKNOWN__ 17 76142668 76142668 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76142668G>A ENST00000340363.5 + 1 92 NM_001163075.1 NP_001156547.1 Q6UX52 CQ099_HUMAN chromosome 17 open reading frame 99 NA NA extracellular region (GO:0005576) NA gaaagatctgggcttgagtct 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY358510 CCDS54171.1 17q25.3 2012-10-23 ENSG00000187997 ENSG00000187997 100141515 34490 protein-coding gene gene with protein product NA Standard NM_001163075 NM_001163075 NA Approved GLPG464, UNQ464 uc002jus.4 Q6UX52 OTTHUMG00000153871 ENST00000340363.5:c.37+143G>A chr17.hg19:g.76142668G>A NA hg19 CCDS54171.1 0.02 1.778053 CTGxGCT COVERED NOVEL C17orf99-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000332775.1 2 8.728172 KEEP 0 0 0 29 1015 GG 0.999997 0.999314 0 + 4 60 137 0 0 8.69433 77 60 2812 144 ENST00000340363.5 0.049383 0.999317 RP11-219G17.4 0 __UNKNOWN__ __UNKNOWN__ 17 76268010 76268010 __UNKNOWN__ lincRNA SNP C C T rs880316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76268010C>T ENST00000374945.1 - 0 87 NR_073178.1 NA NA NA cagtggctccctcatcctctg 0.627 NA C||| 588 0.117412 0.0219 0.147 5008 , , NA 15125 0.1806 NA 0.1064 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000374945.1: chr17.hg19:g.76268010C>T NA hg19 0.02 6.410754 TCCxTCA COVERED 226 0.10347985347985347 10 0.02032520325203252 46 0.1270718232044199 98 0.17132867132867133 72 0.09498680738786279 C 7.006 0.555818 0.13436 . . ENSG00000204277 ENST00000374945 . . . 1.56 1.56 0.23342 . . . . . T 0.00178 0.0005 . . . . . . . . . . . . T 0.12734 -1.0536 4 0.87932 D 0 . 6.5536 0.22448 0.0:1.0:0.0:0.0 rs880316;rs60154057;rs880316 . . . K 2 . ENSP00000364083:R2K R - 2 0 AC087645.1 73779605 0.005000 0.15991 0.005000 0.12908 0.020000 0.10135 1.673000 0.37534 1.168000 0.42723 0.455000 0.32223 AGG NOVEL RP11-219G17.4-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000437286.1 0 15.048174 KEEP 0 0 0 50 1781 CC 1 1 0 - 9 60 304 1 0 19.262137 168 60 6444 274 ENST00000374945.1 0.050847 1 PGS1 9489 __UNKNOWN__ __UNKNOWN__ 17 76395421 76395421 __UNKNOWN__ Intron SNP G G A rs2292643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76395421G>A ENST00000262764.6 + 5 537 PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_3'UTR NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 NA NA cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444) cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TTCTCTGTCCGTGTTCAGGCC 0.632 NA G||| 2913 0.581669 0.5825 0.647 5008 , , NA 21597 0.5159 NA 0.6233 False NA ,,, NA NA NA 2504 0.5593 NA NA NA Esophageal Squamous(45;182 1126 10685 43198) NA 0 G 2460,1692 737,986,353 73 74 74 -5.1 0 17 dbSNP_100 74 5091,3303 1567,1957,673 no intron PGS1 NM_024419.3 2304,2943,1026 AA,AG,GG 39.3495,40.7514,39.8135 76395421 7551,4995 2076 4197 6273 SO:0001627 intron_variant CCDS42391.1 17q25.3 2006-02-09 9489 30029 protein-coding gene gene with protein product 614942 NA 9880566 Standard NM_024419 XR_243691 NA Approved DKFZP762M186 uc002jvm.3 Q32NB8 ENST00000262764.6:c.512-8G>A chr17.hg19:g.76395421G>A NA B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7 hg19 CCDS42391.1 0.02 4.059938 TCCxTGT COVERED NOVEL PGS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437301.1 1 8.356829 KEEP 0 1 29 38 1176 GG 1 1 0 + 9 60 328 0 0 22.314617 141 60 4491 195 ENST00000262764.6 0.06 1 PGS1 9489 __UNKNOWN__ __UNKNOWN__ 17 76395430 76395430 __UNKNOWN__ Splice_Site SNP C C T rs2292642|rs17845783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76395430C>T ENST00000262764.6 + 5 539 c.513C>T c.(511-513)ggC>ggT p.G171G PGS1_ENST00000329897.7_Splice_Site_p.G36G|PGS1_ENST00000588281.1_3'UTR NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 171 NA cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444) cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CGTGTTCAGGCCGGAAGAACT 0.632 NA C||| 2913 0.581669 0.5825 0.647 5008 , , NA 21584 0.5159 NA 0.6233 False NA ,,, NA NA NA 2504 0.5593 NA NA NA Esophageal Squamous(45;182 1126 10685 43198) NA 0 C 2459,1683 737,985,349 77 78 78 513 -3.4 0.9 17 dbSNP_100 78 5101,3293 1571,1959,667 yes coding-synonymous-near-splice PGS1 NM_024419.3 2308,2944,1016 TT,TC,CC 39.2304,40.6325,39.6937 171/557 76395430 7560,4976 2071 4197 6268 SO:0001630 splice_region_variant CCDS42391.1 17q25.3 2006-02-09 9489 30029 protein-coding gene gene with protein product 614942 NA 9880566 Standard NM_024419 XR_243691 NA Approved DKFZP762M186 uc002jvm.3 Q32NB8 ENST00000262764.6:c.512-1C>T chr17.hg19:g.76395430C>T NA B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7 hg19 CCDS42391.1 0.02 6.043359 AGGxCGG COVERED NOVEL PGS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437301.1 1 13.843872 KEEP 0 0 0 46 1592 CC 1 1 0 Silent + 12 60 431 0 0 29.544068 173 60 6076 238 ENST00000262764.6 0.064865 1 PGS1 9489 __UNKNOWN__ __UNKNOWN__ 17 76396963 76396963 __UNKNOWN__ Intron SNP A A G rs3817294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76396963A>G ENST00000262764.6 + 6 906 PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 NA NA cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444) cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) ACACCCTTCTATGGCTGTGGG 0.612 NA G||| 2927 0.584465 0.5915 0.647 5008 , , NA 19489 0.5159 NA 0.6252 False NA ,,, NA NA NA 2504 0.5593 NA NA NA Esophageal Squamous(45;182 1126 10685 43198) NA 0 G 2580,1700 800,980,360 21 26 24 -5.1 0 17 dbSNP_107 24 5148,3352 1589,1970,691 no intron PGS1 NM_024419.3 2389,2950,1051 GG,GA,AA 39.4353,39.7196,39.5305 76396963 7728,5052 2140 4250 6390 SO:0001627 intron_variant CCDS42391.1 17q25.3 2006-02-09 9489 30029 protein-coding gene gene with protein product 614942 NA 9880566 Standard NM_024419 XR_243691 NA Approved DKFZP762M186 uc002jvm.3 Q32NB8 ENST00000262764.6:c.880+27A>G chr17.hg19:g.76396963A>G NA B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7 hg19 CCDS42391.1 0.02 4.584109 TCTxTGG COVERED NOVEL PGS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437301.1 0 2.706357 KEEP 0 0 0 9 253 AA 0.99254 0.992536 0 + 7 60 263 0 0 18.243176 106 60 3789 136 ENST00000262764.6 0.061947 0.999995 PGS1 9489 __UNKNOWN__ __UNKNOWN__ 17 76410871 76410871 __UNKNOWN__ Intron SNP G G A rs3744216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76410871G>A ENST00000262764.6 + 8 1428 PGS1_ENST00000329897.7_Intron|PGS1_ENST00000588281.1_Intron NM_024419.3 NP_077733.3 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 NA NA cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444) cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) AGGGCAGGCCGCCTTTCTCTT 0.632 NA G||| 4045 0.807708 0.649 0.8617 5008 , , NA 18955 0.9157 NA 0.8201 False NA ,,, NA NA NA 2504 0.8599 NA NA NA Esophageal Squamous(45;182 1126 10685 43198) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42391.1 17q25.3 2006-02-09 9489 30029 protein-coding gene gene with protein product 614942 NA 9880566 Standard NM_024419 XR_243691 NA Approved DKFZP762M186 uc002jvm.3 Q32NB8 ENST00000262764.6:c.1403-89G>A chr17.hg19:g.76410871G>A NA B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7 hg19 CCDS42391.1 0.02 4.132173 GCCxCCT COVERED NOVEL PGS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437301.1 0 11.737005 KEEP 0 0 0 39 1329 GG 1 0.999998 0 + 6 60 216 0 0 14.14396 113 60 3857 200 ENST00000262764.6 0.05042 0.999998 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76423097 76423097 __UNKNOWN__ Silent SNP G G A rs2271613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76423097G>A ENST00000585328.1 - 78 12790 c.12666C>T c.(12664-12666)taC>taT p.Y4222Y DNAH17_ENST00000389840.5_Silent_p.Y4250Y|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 4250 NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGACTACCACGTAGGGGGTCT 0.527 NA G||| 3428 0.684505 0.3759 0.755 5008 , , NA 20477 0.9425 NA 0.7167 False NA ,,, NA NA NA 2504 0.7526 NA NA NA NA 0 G 1882,2524 525.2+/-371.5 405,1072,726 59 45 50 12681 -4.8 1 17 dbSNP_100 50 6214,2386 674.3+/-403.1 2232,1750,318 no coding-synonymous DNAH17 NM_173628.3 2637,2822,1044 AA,AG,GG 27.7442,42.7145,37.7518 4227/4463 76423097 8096,4910 2203 4300 6503 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.12666C>T chr17.hg19:g.76423097G>A NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 10.926715 CACxTAG COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 1 6.76147 KEEP 0 4 127 67 2330 GG 1 1 0 - 20 60 740 0 0 51.707252 278 60 9979 464 ENST00000585328.1 0.067114 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76423205 76423205 __UNKNOWN__ Intron SNP C C G rs373502157 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76423205C>G ENST00000585328.1 - 78 12698 DNAH17_ENST00000389840.5_Silent_p.P4214P|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCCAGTCCCCGGACAGCCCC 0.592 NA C||| 5 0.000998403 0.0 0.0 5008 , , NA 17416 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 18 15 16 NA NA 17 NA 76423205 2193 4278 6471 SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.12574-16G>C chr17.hg19:g.76423205C>G NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 1.910545 CCCxGGA COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 0 5.416677 KEEP 0 0 0 18 591 CC 0.999859 0.999822 0 - 9 60 318 0 0 22.961276 91 60 2944 124 ENST00000585328.1 0.09 0.999962 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76449505 76449505 __UNKNOWN__ Silent SNP G G C rs2289751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76449505G>C ENST00000585328.1 - 65 10558 c.10434C>G c.(10432-10434)acC>acG p.T3478T DNAH17_ENST00000389840.5_Silent_p.T3469T|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 3469 AAA 5. {ECO:0000250}. NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAATGAGCAAGGTGTCCCCTT 0.582 NA G||| 2336 0.466454 0.3041 0.4798 5008 , , NA 20372 0.6042 NA 0.5994 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 G 1499,2907 476.3+/-357.6 276,947,980 145 96 112 10449 1.2 1 17 dbSNP_100 112 4811,3789 611.6+/-395.8 1327,2157,816 no coding-synonymous DNAH17 NM_173628.3 1603,3104,1796 CC,CG,GG 44.0581,34.0218,48.5161 3483/4463 76449505 6310,6696 2203 4300 6503 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.10434C>G chr17.hg19:g.76449505G>C NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 12.99447 CAAxGTG COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 1 7.871864 KEEP 0 2 71 51 1813 GG 1 1 0 - 18 60 623 0 0 40.742681 305 60 11394 462 ENST00000585328.1 0.055728 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76468839 76468839 __UNKNOWN__ Intron SNP C C T rs56063946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76468839C>T ENST00000585328.1 - 54 8621 DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000586052.1_Intron NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCCCCTCCCCCTCCGTTCTC 0.642 NA C||| 707 0.141174 0.087 0.0922 5008 , , NA 15115 0.1895 NA 0.1233 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.8496+2520G>A chr17.hg19:g.76468839C>T NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 15.051882 CCCxCTC COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 4 31.597297 KEEP 0 0 0 105 3710 CC 1 1 0 - 12 60 399 0 0 22.750797 353 60 13237 611 ENST00000585328.1 0.032877 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76468908 76468908 __UNKNOWN__ Intron SNP G G A rs55955947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76468908G>A ENST00000585328.1 - 54 8621 DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000586052.1_Intron NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTGTGCCCCAGCTCCACCCAG 0.582 NA G||| 710 0.141773 0.0893 0.0922 5008 , , NA 15978 0.1905 NA 0.1233 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.8496+2451C>T chr17.hg19:g.76468908G>A NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 18.913827 CCAxCTC COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 1 31.300859 KEEP 0 0 0 104 3725 GG 1 1 0 - 20 60 711 1 0 44.954219 439 60 16464 727 ENST00000585328.1 0.043573 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76469012 76469012 __UNKNOWN__ Intron SNP C C G rs8075579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76469012C>G ENST00000585328.1 - 54 8621 DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000586052.1_Intron NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCAGACATCTTGATGTAGT 0.547 NA C||| 754 0.150559 0.1195 0.098 5008 , , NA 16943 0.1895 NA 0.1243 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.8496+2347G>C chr17.hg19:g.76469012C>G NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 6.785785 CATxTTG COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 0 6.320843 KEEP 0 0 0 21 764 CC 0.999869 0.999869 0 - 8 60 304 0 0 20.493428 149 60 5658 183 ENST00000585328.1 0.050955 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76471366 76471366 __UNKNOWN__ Silent SNP G G A rs61746438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76471366G>A ENST00000585328.1 - 54 8614 c.8490C>T c.(8488-8490)gaC>gaT p.D2830D DNAH17_ENST00000389840.5_Silent_p.D2821D|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 2821 AAA 4. {ECO:0000250}. NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCACCTTGAGGTCGGGGATCC 0.542 NA G||| 668 0.133387 0.0877 0.085 5008 , , NA 20184 0.1895 NA 0.1103 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 G 342,3738 16,310,1714 84 87 86 8505 3.6 1 17 dbSNP_129 86 999,7363 67,865,3249 no coding-synonymous DNAH17 NM_173628.3 83,1175,4963 AA,AG,GG 11.9469,8.3824,10.778 2835/4463 76471366 1341,11101 2040 4181 6221 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.8490C>T chr17.hg19:g.76471366G>A NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 4.463523 GAGxTCG COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 2 6.320686 KEEP 0 0 0 21 749 GG 0.999869 0.999869 0 - 6 60 218 0 0 14.17639 121 60 4311 181 ENST00000585328.1 0.047244 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76472768 76472768 __UNKNOWN__ Silent SNP G G A rs7405830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76472768G>A ENST00000585328.1 - 52 8149 c.8025C>T c.(8023-8025)ctC>ctT p.L2675L DNAH17_ENST00000389840.5_Silent_p.L2666L|DNAH17_ENST00000586052.1_Intron NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 2666 NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AAAGGCGGACGAGGTCCAGTG 0.507 NA A||| 1881 0.375599 0.761 0.2435 5008 , , NA 20560 0.2798 NA 0.1909 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 A 2623,1379 873,877,251 110 124 119 8040 -9.5 0.4 17 dbSNP_116 119 1610,6712 158,1294,2709 no coding-synonymous DNAH17 NM_173628.3 1031,2171,2960 AA,AG,GG 19.3463,34.4578,34.3476 2680/4463 76472768 4233,8091 2001 4161 6162 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.8025C>T chr17.hg19:g.76472768G>A NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 6.402152 GACxAGG COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 0 12.038131 KEEP 0 0 0 40 1355 GG 1 1 0 - 10 60 362 0 0 24.254532 168 60 6154 262 ENST00000585328.1 0.05618 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76475067 76475067 __UNKNOWN__ Intron SNP A A G rs56372780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76475067A>G ENST00000585328.1 - 51 8102 DNAH17_ENST00000389840.5_Intron|DNAH17_ENST00000586052.1_5'UTR NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGGCACTGGACCGTAAGGCA 0.468 NA g||| 1875 0.374401 0.6785 0.2666 5008 , , NA 27607 0.2996 NA 0.2157 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 2273,1739 652,969,385 70 71 71 -0.8 0 17 dbSNP_129 71 1781,6605 185,1411,2597 no intron DNAH17 NM_173628.3 837,2380,2982 GG,GA,AA 21.2378,43.345,32.6988 76475067 4054,8344 2006 4193 6199 SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.7977+39T>C chr17.hg19:g.76475067A>G NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 8.676432 TGGxCCG COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 1 7.523692 KEEP 0 0 0 25 823 AA 0.999931 0.999931 0 - 24 60 852 0 0 62.423734 224 60 7986 305 ENST00000585328.1 0.096774 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76482435 76482435 __UNKNOWN__ Silent SNP C C T rs61743860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76482435C>T ENST00000585328.1 - 45 7081 c.6957G>A c.(6955-6957)acG>acA p.T2319T DNAH17_ENST00000389840.5_Silent_p.T2310T|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 2310 NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTACAGAATCGTTTGGATCA 0.572 NA C||| 413 0.0824681 0.0234 0.0634 5008 , , NA 18447 0.1478 NA 0.0924 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 C 158,4196 2,154,2021 76 81 79 6972 -3.9 0.2 17 dbSNP_129 79 778,7764 30,718,3523 no coding-synonymous DNAH17 NM_173628.3 32,872,5544 TT,TC,CC 9.1079,3.6288,7.2581 2324/4463 76482435 936,11960 2177 4271 6448 SO:0001819 synonymous_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.6957G>A chr17.hg19:g.76482435C>T NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 16.53862 AATxGTT COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 2 24.375467 KEEP 0 0 0 81 2736 CC 1 1 0 - 27 60 1016 0 0 72.782 335 60 11751 558 ENST00000585328.1 0.074586 1 DNAH17 8632 __UNKNOWN__ __UNKNOWN__ 17 76506665 76506665 __UNKNOWN__ Intron SNP T T C rs2376586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76506665T>C ENST00000585328.1 - 27 4229 DNAH17_ENST00000389840.5_Intron NM_173628.3 NP_775899.3 Q9UFH2 DYH17_HUMAN dynein, axonemal, heavy chain 17 NA NA cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGATCCTTCATGGAGAGCCAT 0.522 NA T||| 1069 0.213458 0.2194 0.1585 5008 , , NA 17778 0.3571 NA 0.2058 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ000522 17q25.3 2012-04-19 2006-09-04 ENSG00000187775 ENSG00000187775 8632 Axonemal dyneins 2946 protein-coding gene gene with protein product 610063 dynein, axonemal, heavy polypeptide 17, dynein, axonemal, heavy chain like 1, dynein, axonemal, heavy like 1 DNAHL1 NA 9545504 Standard NM_173628 NM_173628 NA Approved DNEL2, FLJ40457 uc010dhp.2 Q9UFH2 ENST00000585328.1:c.4105-77A>G chr17.hg19:g.76506665T>C NA O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7 hg19 0.02 2.172091 TCAxGGA COVERED NOVEL DNAH17-001 PUTATIVE not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318962.2 0 3.310378 KEEP 0 0 0 11 357 TT 0.993072 0.992968 0 - 5 60 179 0 0 11.856467 87 60 3133 123 ENST00000585328.1 0.054348 0.999895 TIMP2 7077 __UNKNOWN__ __UNKNOWN__ 17 76867017 76867017 __UNKNOWN__ Silent SNP C C T rs2277698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76867017C>T ENST00000262768.7 - 3 601 c.303G>A c.(301-303)tcG>tcA p.S101S TIMP2_ENST00000585421.1_Silent_p.S24S|TIMP2_ENST00000586057.1_Silent_p.S24S|TIMP2_ENST00000536189.2_Silent_p.S24S NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 101 NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}. NA S -> E (in Ref. 6; AA sequence and 7; AA sequence). {ECO:0000305}. aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493) basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025) enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191) central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) CAACGTCCAGCGAGACCCCAC 0.547 NA C||| 846 0.16893 0.1006 0.1196 5008 , , NA 17527 0.2639 NA 0.1252 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 GRCh37 CM991178 TIMP2 M rs2277698 C 420,3986 206.2+/-227.9 25,370,1808 114 106 109 303 -1.7 1 17 dbSNP_100 109 1034,7566 220.5+/-258.2 56,922,3322 no coding-synonymous TIMP2 NM_003255.4 81,1292,5130 TT,TC,CC 12.0233,9.5325,11.1795 101/221 76867017 1454,11552 2203 4300 6503 SO:0001819 synonymous_variant CCDS11758.1 17q25 2008-07-18 2005-08-08 ENSG00000035862 ENSG00000035862 7077 11821 protein-coding gene gene with protein product 188825 tissue inhibitor of metalloproteinase 2 NA 1427908 Standard NM_003255 NM_003255 NA Approved CSC-21K uc002jwf.3 P16035 OTTHUMG00000154517 ENST00000262768.7:c.303G>A chr17.hg19:g.76867017C>T NA Q16121|Q93006|Q9UDF7 hg19 CCDS11758.1 0.02 4.041164 CAGxGAG COVERED NOVEL TIMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335662.1 2 10.604496 KEEP 0 2 62 57 2031 CC 1 0.999998 0 - 9 60 312 0 0 21.68504 109 60 3941 218 ENST00000262768.7 0.076271 0.999998 TIMP2 7077 __UNKNOWN__ __UNKNOWN__ 17 76870106 76870106 __UNKNOWN__ Intron SNP C C G rs55955357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76870106C>G ENST00000262768.7 - 2 429 TIMP2_ENST00000585421.1_Intron|TIMP2_ENST00000586057.1_5'UTR|TIMP2_ENST00000536189.2_Intron NM_003255.4 NP_003246.1 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 NA NA aging (GO:0007568)|cellular response to organic substance (GO:0071310)|central nervous system development (GO:0007417)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of proteolysis (GO:0045861)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|regulation of Rap protein signal transduction (GO:0032487)|response to cytokine (GO:0034097)|response to drug (GO:0042493) basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025) enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191) central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) TGGGGGGTTACAGACAGCAGC 0.617 NA C||| 916 0.182907 0.1067 0.1412 5008 , , NA 18651 0.2679 NA 0.161 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11758.1 17q25 2008-07-18 2005-08-08 ENSG00000035862 ENSG00000035862 7077 11821 protein-coding gene gene with protein product 188825 tissue inhibitor of metalloproteinase 2 NA 1427908 Standard NM_003255 NM_003255 NA Approved CSC-21K uc002jwf.3 P16035 OTTHUMG00000154517 ENST00000262768.7:c.131-105G>C chr17.hg19:g.76870106C>G NA Q16121|Q93006|Q9UDF7 hg19 CCDS11758.1 0.02 4.760603 TTAxAGA COVERED NOVEL TIMP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335662.1 0 7.223097 KEEP 0 0 0 24 838 CC 0.999909 0.999909 0 - 9 60 345 0 0 24.683758 118 60 4417 157 ENST00000262768.7 0.070866 1 CANT1 124583 __UNKNOWN__ __UNKNOWN__ 17 76988785 76988785 __UNKNOWN__ 3'UTR SNP G G A rs11891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:76988785G>A ENST00000302345.2 - 0 2547 CANT1_ENST00000392446.5_3'UTR NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 NA NA positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134) CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GGCCAAGAACGCCGACATGTG 0.478 NA T ETV4 prostate OREG0024788 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 858 0.171326 0.1959 0.0591 5008 , , NA 15797 0.3135 NA 0.0895 False NA ,,, NA NA NA 2504 0.1554 NA NA NA Dom yes 17 17q25 124583 calcium activated nucleotidase 1 E 0 G ,, 328,1424 36,256,584 29 28 28 ,, -1 0 17 dbSNP_52 28 369,3613 17,335,1639 no utr-3,utr-3,utr-3 CANT1 NM_001159772.1,NM_001159773.1,NM_138793.3 ,, 53,591,2223 AA,AG,GG 9.2667,18.7215,12.1556 ,, ,, 76988785 697,5037 876 1991 2867 SO:0001624 3_prime_UTR_variant AJ312208 CCDS11760.1 17q25.3 2008-02-05 2004-10-12 2004-10-15 ENSG00000171302 124583 19721 protein-coding gene gene with protein product Soluble Ca-Activated Nucleotidase, isozyme 1 613165 NA 12167635 Standard NM_138793 NM_138793 NA Approved SHAPY, SCAN-1 uc002jwk.3 Q8WVQ1 ENST00000302345.2:c.*847C>T chr17.hg19:g.76988785G>A 1172 B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5 hg19 CCDS11760.1 0.02 4.557028 AACxCCG COVERED NOVEL CANT1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437723.2 0 9.960436 KEEP 0 2 62 55 1821 GG 1 1 0 - 5 60 193 0 0 12.339144 134 60 4465 243 ENST00000302345.2 0.035971 1 C1QTNF1 114897 __UNKNOWN__ __UNKNOWN__ 17 77039835 77039835 __UNKNOWN__ Intron SNP G G A rs4789924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77039835G>A ENST00000311661.4 + 2 234 C1QTNF1_ENST00000339142.2_Intron|C1QTNF1_ENST00000578229.1_Intron|C1QTNF1_ENST00000354124.3_Intron|C1QTNF1_ENST00000579760.1_Intron|C1QTNF1_ENST00000583904.1_Intron|C1QTNF1_ENST00000580454.1_Intron|C1QTNF1_ENST00000581774.1_Intron|C1QTNF1_ENST00000392445.2_Intron|C1QTNF1_ENST00000580474.1_5'UTR NM_198594.2 NP_940996.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 NA NA negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887) collagen binding (GO:0005518) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) acgtgagtgcgtcgtgagtgc 0.532 NA G||| 2691 0.53734 0.7073 0.5159 5008 , , NA 27230 0.6726 NA 0.2962 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF329840 CCDS11761.1, CCDS11762.1 17q25 2012-07-02 ENSG00000173918 ENSG00000173918 114897 14324 protein-coding gene gene with protein product G protein coupled receptor interacting protein 610365 NA 12409230 Standard NM_030968 NM_198593 NA Approved CTRP1, ZSIG37, GIP, FLJ90694 uc002jwp.4 Q9BXJ1 OTTHUMG00000177533 ENST00000311661.4:c.-91-2802G>A chr17.hg19:g.77039835G>A NA Q6ZMH6|Q96NF2|Q9GZR4 hg19 CCDS11762.1 0.02 8.209121 TGCxTCG COVERED NOVEL C1QTNF1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000437386.1 5 20.765372 KEEP 0 0 0 69 2345 GG 1 1 0 + 11 60 384 0 0 24.41902 222 60 7526 359 ENST00000311661.4 0.04721 1 C1QTNF1 114897 __UNKNOWN__ __UNKNOWN__ 17 77039852 77039852 __UNKNOWN__ Intron SNP G G A rs4789854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77039852G>A ENST00000311661.4 + 2 234 C1QTNF1_ENST00000339142.2_Intron|C1QTNF1_ENST00000578229.1_Intron|C1QTNF1_ENST00000354124.3_Intron|C1QTNF1_ENST00000579760.1_Intron|C1QTNF1_ENST00000583904.1_Intron|C1QTNF1_ENST00000580454.1_Intron|C1QTNF1_ENST00000581774.1_Intron|C1QTNF1_ENST00000392445.2_Intron|C1QTNF1_ENST00000580474.1_5'UTR NM_198594.2 NP_940996.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 NA NA negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887) collagen binding (GO:0005518) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) gtgcgtgtatgcatgcatggg 0.537 NA G||| 2586 0.516374 0.6377 0.5014 5008 , , NA 27027 0.6726 NA 0.2932 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF329840 CCDS11761.1, CCDS11762.1 17q25 2012-07-02 ENSG00000173918 ENSG00000173918 114897 14324 protein-coding gene gene with protein product G protein coupled receptor interacting protein 610365 NA 12409230 Standard NM_030968 NM_198593 NA Approved CTRP1, ZSIG37, GIP, FLJ90694 uc002jwp.4 Q9BXJ1 OTTHUMG00000177533 ENST00000311661.4:c.-91-2785G>A chr17.hg19:g.77039852G>A NA Q6ZMH6|Q96NF2|Q9GZR4 hg19 CCDS11762.1 0.02 10.205572 TATxCAT COVERED NOVEL C1QTNF1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000437386.1 5 23.759373 KEEP 0 0 0 79 2789 GG 1 1 0 + 17 60 582 0 0 38.260213 272 60 10357 435 ENST00000311661.4 0.058824 1 C1QTNF1 114897 __UNKNOWN__ __UNKNOWN__ 17 77044385 77044385 __UNKNOWN__ 3'UTR SNP G G A rs73408671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77044385G>A ENST00000311661.4 + 0 1140 C1QTNF1_ENST00000339142.2_3'UTR|C1QTNF1_ENST00000354124.3_3'UTR|C1QTNF1_ENST00000579760.1_3'UTR|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000392445.2_3'UTR|C1QTNF1_ENST00000580474.1_3'UTR NM_198594.2 NP_940996.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 NA NA negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906) collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887) collagen binding (GO:0005518) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GGGCACCCGCGAGAACCCTCT 0.677 NA G||| 330 0.0658946 0.2231 0.0375 5008 , , NA 13560 0.0 NA 0.005 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF329840 CCDS11761.1, CCDS11762.1 17q25 2012-07-02 ENSG00000173918 ENSG00000173918 114897 14324 protein-coding gene gene with protein product G protein coupled receptor interacting protein 610365 NA 12409230 Standard NM_030968 NM_198593 NA Approved CTRP1, ZSIG37, GIP, FLJ90694 uc002jwp.4 Q9BXJ1 OTTHUMG00000177533 ENST00000311661.4:c.*215G>A chr17.hg19:g.77044385G>A NA Q6ZMH6|Q96NF2|Q9GZR4 hg19 CCDS11762.1 0.02 -0.061409 CGCxAGA UNCOVERED NOVEL C1QTNF1-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000437386.1 1 2.407007 KEEP 0 0 0 8 248 GG 0.99257 0.043461 0 + 3 60 106 0 0 9.955191 4 60 139 17 ENST00000311661.4 0.428571 0.043787 ENGASE 64772 __UNKNOWN__ __UNKNOWN__ 17 77073566 77073566 __UNKNOWN__ Silent SNP G G A rs3744181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77073566G>A ENST00000579016.1 + 2 201 c.201G>A c.(199-201)ccG>ccA p.P67P ENGASE_ENST00000539857.2_5'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 67 NA cytoplasm (GO:0005737) mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GTTTTTCCCCGGACCCCCTGC 0.493 NA G||| 1247 0.249002 0.1672 0.3112 5008 , , NA 16169 0.3274 NA 0.1292 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 G 563,3175 50,463,1356 66 67 66 201 -0.1 0 17 dbSNP_107 66 1238,6934 90,1058,2938 no coding-synonymous ENGASE NM_001042573.1 140,1521,4294 AA,AG,GG 15.1493,15.0615,15.1217 67/744 77073566 1801,10109 1869 4086 5955 SO:0001819 synonymous_variant AF512564 CCDS42394.1 17q25.3 2009-03-03 ENSG00000167280 ENSG00000167280 64772 3.2.1.96 24622 protein-coding gene gene with protein product Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase, Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase 611898 NA 12114544, 18586680 Standard NM_022759 NM_001042573 NA Approved FLJ21865 uc002jwv.4 Q8NFI3 OTTHUMG00000167714 ENST00000579016.1:c.201G>A chr17.hg19:g.77073566G>A NA Q659F0|Q8TB86|Q9H6U4 hg19 CCDS42394.1 0.02 2.18702 CCCxGAC COVERED NOVEL ENGASE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395807.1 0 3.310444 KEEP 0 0 0 11 366 GG 0.993072 0.992296 0 + 4 60 152 0 0 10.216756 76 60 2585 107 ENST00000579016.1 0.05 0.999218 ENGASE 64772 __UNKNOWN__ __UNKNOWN__ 17 77076440 77076440 __UNKNOWN__ Silent SNP G G T rs3744186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77076440G>T ENST00000579016.1 + 5 717 c.717G>T c.(715-717)tcG>tcT p.S239S ENGASE_ENST00000539857.2_Silent_p.S53S NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 239 NA cytoplasm (GO:0005737) mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 TCGAGAACTCGCTGAGTGTGA 0.627 NA T||| 1959 0.391174 0.553 0.4265 5008 , , NA 16199 0.3284 NA 0.1948 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 T 1895,2135 451,993,571 49 58 55 717 -9.2 0.1 17 dbSNP_107 55 1847,6493 206,1435,2529 no coding-synonymous ENGASE NM_001042573.1 657,2428,3100 TT,TG,GG 22.1463,47.0223,30.2506 239/744 77076440 3742,8628 2015 4170 6185 SO:0001819 synonymous_variant AF512564 CCDS42394.1 17q25.3 2009-03-03 ENSG00000167280 ENSG00000167280 64772 3.2.1.96 24622 protein-coding gene gene with protein product Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase, Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase 611898 NA 12114544, 18586680 Standard NM_022759 NM_001042573 NA Approved FLJ21865 uc002jwv.4 Q8NFI3 OTTHUMG00000167714 ENST00000579016.1:c.717G>T chr17.hg19:g.77076440G>T NA Q659F0|Q8TB86|Q9H6U4 hg19 CCDS42394.1 0.02 4.123479 CTCxCTG COVERED NOVEL ENGASE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395807.1 0 10.835014 KEEP 0 0 0 36 1264 GG 1 0.999999 0 + 7 60 250 0 0 16.756536 113 60 4244 197 ENST00000579016.1 0.058333 0.999999 ENGASE 64772 __UNKNOWN__ __UNKNOWN__ 17 77078109 77078109 __UNKNOWN__ Silent SNP A A G rs1317421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77078109A>G ENST00000579016.1 + 7 1002 c.1002A>G c.(1000-1002)cgA>cgG p.R334R ENGASE_ENST00000539857.2_Silent_p.R148R NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 334 BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}. NA cytoplasm (GO:0005737) mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 TGTTTGCTCGAGGGAACGTGG 0.627 NA G||| 1676 0.334665 0.5711 0.2248 5008 , , NA 10949 0.3026 NA 0.175 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 G 1961,2329 449,1063,633 114 149 137 1002 -4.8 0.1 17 dbSNP_88 137 1465,7025 118,1229,2898 no coding-synonymous ENGASE NM_001042573.1 567,2292,3531 GG,GA,AA 17.2556,45.711,26.8075 334/744 77078109 3426,9354 2145 4245 6390 SO:0001819 synonymous_variant AF512564 CCDS42394.1 17q25.3 2009-03-03 ENSG00000167280 ENSG00000167280 64772 3.2.1.96 24622 protein-coding gene gene with protein product Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase, Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase 611898 NA 12114544, 18586680 Standard NM_022759 NM_001042573 NA Approved FLJ21865 uc002jwv.4 Q8NFI3 OTTHUMG00000167714 ENST00000579016.1:c.1002A>G chr17.hg19:g.77078109A>G NA Q659F0|Q8TB86|Q9H6U4 hg19 CCDS42394.1 0.02 20.48513 TCGxGGG COVERED NOVEL ENGASE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395807.1 2 29.478738 KEEP 0 0 0 98 3042 AA 1 1 0 + 15 60 565 1 0 35.012998 442 60 15314 725 ENST00000579016.1 0.032823 1 ENGASE 64772 __UNKNOWN__ __UNKNOWN__ 17 77078451 77078451 __UNKNOWN__ Intron SNP C C T rs3744189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77078451C>T ENST00000579016.1 + 7 1038 ENGASE_ENST00000584568.1_Intron|ENGASE_ENST00000539857.2_3'UTR NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase NA NA cytoplasm (GO:0005737) mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GTCCCAGCTGCGTTCCTTGAT 0.657 NA OREG0024792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 863 0.172324 0.118 0.147 5008 , , NA 12432 0.252 NA 0.1243 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF512564 CCDS42394.1 17q25.3 2009-03-03 ENSG00000167280 ENSG00000167280 64772 3.2.1.96 24622 protein-coding gene gene with protein product Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase, Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase 611898 NA 12114544, 18586680 Standard NM_022759 NM_001042573 NA Approved FLJ21865 uc002jwv.4 Q8NFI3 OTTHUMG00000167714 ENST00000579016.1:c.1038+306C>T chr17.hg19:g.77078451C>T 1173 Q659F0|Q8TB86|Q9H6U4 hg19 CCDS42394.1 0.02 2.166004 CTGxGTT COVERED NOVEL ENGASE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395807.1 1 5.416811 KEEP 0 0 0 18 595 CC 0.999859 0.997023 0 + 5 60 182 0 0 12.73979 66 60 2020 93 ENST00000579016.1 0.070423 0.997163 ENGASE 64772 __UNKNOWN__ __UNKNOWN__ 17 77081222 77081222 __UNKNOWN__ Intron SNP C C T rs4789984 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77081222C>T ENST00000579016.1 + 12 1591 NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase NA NA cytoplasm (GO:0005737) mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925) breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 AATCAGGCAGCCTTCTCTGGA 0.587 NA T||| 1905 0.380391 0.4614 0.3617 5008 , , NA 16100 0.3413 NA 0.2843 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF512564 CCDS42394.1 17q25.3 2009-03-03 ENSG00000167280 ENSG00000167280 64772 3.2.1.96 24622 protein-coding gene gene with protein product Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase, Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase 611898 NA 12114544, 18586680 Standard NM_022759 NM_001042573 NA Approved FLJ21865 uc002jwv.4 Q8NFI3 OTTHUMG00000167714 ENST00000579016.1:c.1592-94C>T chr17.hg19:g.77081222C>T NA Q659F0|Q8TB86|Q9H6U4 hg19 CCDS42394.1 0.02 3.548189 CAGxCTT COVERED NOVEL ENGASE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000395807.1 0 7.196928 KEEP 0 0 0 24 808 CC 0.999909 0.999909 0 + 6 60 205 0 0 12.835205 123 60 4453 166 ENST00000579016.1 0.046512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 77083153 77083153 __UNKNOWN__ IGR SNP G G C rs57039616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77083153G>C NA NA ENGASE (375 upstream) : RBFOX3 (2273 downstream) NA NA NA CGTCTCTTCCGGGCTGTGGGC 0.642 NA G||| 493 0.0984425 0.0144 0.036 5008 , , NA 17772 0.2589 NA 0.0189 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.77083153G>C NA hg19 0.02 4.301026 TCCxGGC COVERED NOVEL 0 0 16.853752 KEEP 0 0 0 56 1908 GG 1 1 0 5 60 183 0 0 11.420896 129 60 4618 247 0.037313 1 RBFOX3 146713 __UNKNOWN__ __UNKNOWN__ 17 77090473 77090473 __UNKNOWN__ Intron SNP A A G rs61042144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77090473A>G ENST00000453134.2 - 14 1449 RBFOX3_ENST00000580155.1_Intron|RBFOX3_ENST00000415831.1_Intron|RBFOX3_ENST00000583458.1_Intron|RBFOX3_ENST00000584778.1_3'UTR|RBFOX3_ENST00000582043.1_Intron A6NFN3 RFOX3_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 3 NA NA mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nucleus (GO:0005634)|perikaryon (GO:0043204) DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723) endometrium(2) 2 CAAGGGCCTCACCACCCATGC 0.657 NA A||| 1931 0.385583 0.5159 0.3674 5008 , , NA 12432 0.3442 NA 0.2813 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 A 630,754 147,336,209 28 29 29 0 0 17 dbSNP_129 29 938,2244 145,648,798 no intron RBFOX3 NM_001082575.1 292,984,1007 GG,GA,AA 29.4783,45.5202,34.3408 77090473 1568,2998 692 1591 2283 SO:0001627 intron_variant CCDS45805.1 17q25.3 2013-02-12 ENSG00000167281 ENSG00000167281 146713 RNA binding motif (RRM) containing 27097 protein-coding gene gene with protein product neuronal nuclei, hexaribonucleotide binding protein 3 NA 16260614 Standard NM_001082575 NM_001082575 NA Approved FOX-3, NeuN, HRNBP3 uc010dhs.4 A6NFN3 OTTHUMG00000150183 ENST00000453134.2:c.936+59T>C chr17.hg19:g.77090473A>G NA B4DEG6|B4DF29 hg19 CCDS45805.1 0.02 2.278108 CTCxCCA COVERED NOVEL RBFOX3-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437658.1 0 8.724462 KEEP 0 0 0 29 890 AA 0.999997 0.999314 0 - 6 60 217 0 0 15.286485 75 60 2670 153 ENST00000453134.2 0.074074 0.999317 ENPP7 339221 __UNKNOWN__ __UNKNOWN__ 17 77709339 77709339 __UNKNOWN__ Silent SNP C C G rs11657217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77709339C>G ENST00000328313.5 + 3 1118 c.897C>G c.(895-897)gcC>gcG p.A299A NM_178543.3 NP_848638.3 ectonucleotide pyrophosphatase/phosphodiesterase 7 NA NA breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3) 34 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGTACGATGCCCTCAAGGACG 0.592 NA G||| 1599 0.319289 0.4864 0.2435 5008 , , NA 5034 0.1101 NA 0.2942 False NA ,,, NA NA NA 2504 0.3885 NA NA NA NA 0 G 2062,2344 607.3+/-390.9 479,1104,620 94 76 82 897 -0.9 0 17 dbSNP_120 82 2625,5975 686.6+/-404.1 414,1797,2089 no coding-synonymous ENPP7 NM_178543.3 893,2901,2709 GG,GC,CC 30.5233,46.7998,36.0372 299/459 77709339 4687,8319 2203 4300 6503 SO:0001819 synonymous_variant AY230663 CCDS11763.1 17q25.3 2014-04-09 ENSG00000182156 ENSG00000182156 339221 23764 protein-coding gene gene with protein product alkaline sphingomyelinase NA 12885774 Standard NM_178543 NM_178543 NA Approved alk-SMase, NPP7 uc002jxa.3 Q6UWV6 OTTHUMG00000177462 ENST00000328313.5:c.897C>G chr17.hg19:g.77709339C>G NA hg19 CCDS11763.1 0.02 15.178233 TGCxCTC COVERED NOVEL ENPP7-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437038.1 5 10.568846 KEEP 0 1 34 47 1608 CC 1 1 0 + 15 60 534 0 0 33.339595 354 60 12773 483 ENST00000328313.5 0.04065 1 CBX8 57332 __UNKNOWN__ __UNKNOWN__ 17 77769997 77769997 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:77769997A>G ENST00000269385.4 - 3 297 CBX8_ENST00000485449.1_Intron NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 NA NA histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102) methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCTGGAAAGAAGCCACTCTAC 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 146 135 139 NA NA 17 NA 77769997 1568 3582 5150 SO:0001627 intron_variant AF174482 CCDS11765.1 17q25.3 2010-07-06 2010-06-24 ENSG00000141570 ENSG00000141570 57332 15962 protein-coding gene gene with protein product polycomb 3, Pc class 3 homolog (Drosophila) chromobox homolog 8 (Drosophila Pc class) NA 10825164 Standard NM_020649 NM_020649 NA Approved RC1, HPC3, PC3 uc002jxd.2 Q9HC52 OTTHUMG00000150416 ENST00000269385.4:c.179+51T>C chr17.hg19:g.77769997A>G NA Q96H39|Q9NR07 hg19 CCDS11765.1 0.02 4.820059 AGAxGCC COVERED NOVEL CBX8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318011.1 0 32.800154 KEEP 0 0 0 109 3504 AA 1 1 0 - 8 60 298 0 0 20.241356 135 60 4970 340 ENST00000269385.4 0.055944 1 CCDC40 55036 __UNKNOWN__ __UNKNOWN__ 17 78022378 78022378 __UNKNOWN__ Intron SNP C C G rs2289530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78022378C>G ENST00000397545.4 + 5 703 CCDC40_ENST00000269318.5_Intron|CCDC40_ENST00000374876.4_Intron|CCDC40_ENST00000374877.3_Intron NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 NA NA axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356) cilium (GO:0005929)|cytoplasm (GO:0005737) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GTCTCTCCCCCCAGTGATCCC 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 C 206,3704 2,202,1751 26 35 32 -0.3 0 17 dbSNP_100 32 1932,6364 233,1466,2449 no intron CCDC40 NM_017950.3 235,1668,4200 GG,GC,CC 23.2883,5.2685,17.516 78022378 2138,10068 1955 4148 6103 SO:0001627 intron_variant AB046860 CCDS42395.1, CCDS58604.1 17q25.3 2013-11-15 ENSG00000141519 ENSG00000141519 55036 26090 protein-coding gene gene with protein product 613799 NA 21131974 Standard XM_371082 NM_017950 NA Approved FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172 uc010dht.3 Q4G0X9 OTTHUMG00000132707 ENST00000397545.4:c.677-4C>G chr17.hg19:g.78022378C>G NA A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5 hg19 CCDS42395.1 0.02 1.572642 CCCxCAG COVERED NOVEL CCDC40-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256005.2 1 4.815301 KEEP 0 0 0 16 536 CC 0.997832 0.984015 0 + 4 60 130 0 0 8.560097 55 60 1990 83 ENST00000397545.4 0.067797 0.986153 CCDC40 55036 __UNKNOWN__ __UNKNOWN__ 17 78073687 78073687 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78073687G>A ENST00000397545.4 + 0 3569 NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 NA NA axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356) cilium (GO:0005929)|cytoplasm (GO:0005737) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) ACCCTCAGAAGGGCATCGTTT 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB046860 CCDS42395.1, CCDS58604.1 17q25.3 2013-11-15 ENSG00000141519 ENSG00000141519 55036 26090 protein-coding gene gene with protein product 613799 NA 21131974 Standard XM_371082 NM_017950 NA Approved FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172 uc010dht.3 Q4G0X9 OTTHUMG00000132707 ENST00000397545.4:c.*113G>A chr17.hg19:g.78073687G>A NA A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5 hg19 CCDS42395.1 0.02 8.94432 GAAxGGC COVERED NOVEL CCDC40-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256005.2 3 12.641355 KEEP 0 0 0 42 1501 GG 1 1 0 + 10 60 365 0 0 23.925917 195 60 7338 290 ENST00000397545.4 0.04878 1 GAA 2548 __UNKNOWN__ __UNKNOWN__ 17 78083615 78083615 __UNKNOWN__ Intron SNP C C T rs80028109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78083615C>T ENST00000302262.3 + 9 1545 GAA_ENST00000390015.3_Intron NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid NA NA cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181) extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020) alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284)|Miglitol(DB00491) TGTGCAGGTACACAGGCAGGC 0.642 NA 4 0.000798722 0.0 0.0 5008 , , NA 15642 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32760.1 17q25.2-q25.3 2014-09-17 2008-08-01 2548 3.2.1.20 4065 protein-coding gene gene with protein product Pompe disease, glycogen storage disease type II 606800 NA Standard NM_000152 NA Approved uc002jxq.3 P10253 ENST00000302262.3:c.1327-129C>T chr17.hg19:g.78083615C>T NA Q09GN4|Q14351|Q16302|Q8IWE7 hg19 CCDS32760.1 0.02 6.109078 GTAxACA COVERED NOVEL GAA-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000437441.1 2 7.223206 KEEP 0 0 0 24 822 CC 0.999909 0.999909 0 + 7 60 239 0 0 14.651427 159 60 5649 215 ENST00000302262.3 0.042169 1 SLC26A11 284129 __UNKNOWN__ __UNKNOWN__ 17 78215566 78215566 __UNKNOWN__ Intron SNP T T G rs12942462 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78215566T>G ENST00000361193.3 + 10 1265 SLC26A11_ENST00000546047.2_Intron|SLC26A11_ENST00000411502.3_Intron|SLC26A11_ENST00000572725.1_Intron NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 solute carrier family 26 (anion exchanger), member 11 NA NA central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTGGTTCCCTTTAGCATCTCA 0.468 NA T||| 1226 0.244808 0.0401 0.3977 5008 , , NA 19655 0.3462 NA 0.2266 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 T ,,, 322,4084 170.5+/-200.9 16,290,1897 124 127 126 ,,, -4.5 0 17 dbSNP_121 126 2140,6460 367.5+/-334.7 265,1610,2425 no intron,intron,intron,intron SLC26A11 NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3 ,,, 281,1900,4322 GG,GT,TT 24.8837,7.3082,18.9297 ,,, ,,, 78215566 2462,10544 2203 4300 6503 SO:0001627 intron_variant CCDS11771.2 17q25 2013-07-18 2013-07-18 ENSG00000181045 ENSG00000181045 284129 Solute carriers 14471 protein-coding gene gene with protein product 610117 solute carrier family 26, member 11 NA Standard NM_001166347 NA Approved uc010dhv.2 Q86WA9 OTTHUMG00000133419 ENST00000361193.3:c.986-4T>G chr17.hg19:g.78215566T>G NA hg19 CCDS11771.2 0.02 11.203167 CCTxTAG COVERED NOVEL SLC26A11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257281.1 3 15.481414 KEEP 0 1 36 64 2018 TT 1 1 0 + 8 60 299 0 0 17.839623 281 60 10133 462 ENST00000361193.3 0.027682 1 SLC26A11 284129 __UNKNOWN__ __UNKNOWN__ 17 78219065 78219065 __UNKNOWN__ Intron SNP C C A rs7406843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78219065C>A ENST00000361193.3 + 11 1377 SLC26A11_ENST00000546047.2_Intron|SLC26A11_ENST00000411502.3_Intron|SLC26A11_ENST00000572725.1_Intron NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 solute carrier family 26 (anion exchanger), member 11 NA NA central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GGTGAGTGACCTGTCCGCCTC 0.617 NA C||| 3047 0.608427 0.1846 0.7392 5008 , , NA 17695 0.9464 NA 0.5765 False NA ,,, NA NA NA 2504 0.773 NA NA NA NA 0 C ,,, 1180,3226 412.4+/-336.1 167,846,1190 183 121 142 ,,, 0.4 0 17 dbSNP_116 142 5324,3276 647.1+/-400.3 1632,2060,608 no intron,intron,intron,intron SLC26A11 NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3 ,,, 1799,2906,1798 AA,AC,CC 38.093,26.7817,49.9923 ,,, ,,, 78219065 6504,6502 2203 4300 6503 SO:0001627 intron_variant CCDS11771.2 17q25 2013-07-18 2013-07-18 ENSG00000181045 ENSG00000181045 284129 Solute carriers 14471 protein-coding gene gene with protein product 610117 solute carrier family 26, member 11 NA Standard NM_001166347 NA Approved uc010dhv.2 Q86WA9 OTTHUMG00000133419 ENST00000361193.3:c.1097+10C>A chr17.hg19:g.78219065C>A NA hg19 CCDS11771.2 0.02 13.77508 GACxTGT COVERED NOVEL SLC26A11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257281.1 0 18.7294 KEEP 0 2 59 83 2962 CC 1 1 0 + 22 60 806 0 0 56.207276 302 60 11291 518 ENST00000361193.3 0.067901 1 SLC26A11 284129 __UNKNOWN__ __UNKNOWN__ 17 78219908 78219908 __UNKNOWN__ Intron SNP T T C rs34818744 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78219908T>C ENST00000361193.3 + 12 1377 SLC26A11_ENST00000546047.2_Intron|SLC26A11_ENST00000411502.3_Intron|SLC26A11_ENST00000572725.1_Intron NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 solute carrier family 26 (anion exchanger), member 11 NA NA central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GAGGTCTCCCTTTTCCCGGCC 0.672 NA C||| 1465 0.292532 0.2133 0.4035 5008 , , NA 17498 0.3462 NA 0.2286 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 C ,,, 970,3434 128,714,1360 49 55 53 ,,, 1.8 0 17 dbSNP_126 53 2051,6543 267,1517,2513 no intron,intron,intron,intron SLC26A11 NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3 ,,, 395,2231,3873 CC,CT,TT 23.8655,22.0254,23.242 ,,, ,,, 78219908 3021,9977 2202 4297 6499 SO:0001627 intron_variant CCDS11771.2 17q25 2013-07-18 2013-07-18 ENSG00000181045 ENSG00000181045 284129 Solute carriers 14471 protein-coding gene gene with protein product 610117 solute carrier family 26, member 11 NA Standard NM_001166347 NA Approved uc010dhv.2 Q86WA9 OTTHUMG00000133419 ENST00000361193.3:c.1098-45T>C chr17.hg19:g.78219908T>C NA hg19 CCDS11771.2 0.02 22.209388 CCCxTTT COVERED NOVEL SLC26A11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257281.1 5 13.848115 KEEP 0 6 200 116 3606 TT 1 1 0 + 24 60 909 0 0 60.577443 475 60 17755 813 ENST00000361193.3 0.048096 1 RNF213 57674 __UNKNOWN__ __UNKNOWN__ 17 78341776 78341776 __UNKNOWN__ Silent SNP G G A rs77506504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78341776G>A ENST00000508628.2 + 45 12280 c.12135G>A c.(12133-12135)ccG>ccA p.P4045P CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000582970.1_Silent_p.P3996P|RNF213_ENST00000336301.6_Silent_p.P2069P Q63HN8 RN213_HUMAN ring finger protein 213 3996 NA ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|membrane (GO:0016020) ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GGATTCAGCCGTGCTCCATCT 0.562 NA G||| 151 0.0301518 0.0008 0.0418 5008 , , NA 18479 0.1161 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G 11,4395 16.8+/-37.8 0,11,2192 133 132 132 12135 -9.1 0 17 dbSNP_132 132 9,8591 7.1+/-27.0 0,9,4291 yes coding-synonymous RNF213 NM_020914.4 0,20,6483 AA,AG,GG 0.1047,0.2497,0.1538 4045/5257 78341776 20,12986 2203 4300 6503 SO:0001819 synonymous_variant AK074030 CCDS58606.1 17q25.3 2013-01-09 2007-02-08 2007-02-08 ENSG00000173821 57674 RING-type (C3HC4) zinc fingers 14539 protein-coding gene gene with protein product 613768 chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2 C17orf27, KIAA1618, MYMY2 NA 10997877, 21048783, 21799892 Standard NM_020914 NM_020954 NA Approved KIAA1554, NET57 uc021uen.2 Q63HN8 ENST00000508628.2:c.12135G>A chr17.hg19:g.78341776G>A NA C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8 hg19 0.02 21.457681 GCCxTGC COVERED NOVEL RNF213-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000364861.3 4 37.59243 KEEP 0 0 0 125 4210 GG 1 1 0 + 28 60 1016 0 0 67.732372 488 60 16401 752 ENST00000508628.2 0.054264 1 RNF213 57674 __UNKNOWN__ __UNKNOWN__ 17 78356355 78356355 __UNKNOWN__ Intron SNP G G A rs76886219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:78356355G>A ENST00000508628.2 + 59 14270 CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000582970.1_Intron|RNF213_ENST00000427003.3_Intron|RNF213_ENST00000336301.6_Intron|CTD-2047H16.4_ENST00000573394.1_RNA Q63HN8 RN213_HUMAN ring finger protein 213 NA NA ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|membrane (GO:0016020) ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGCAAAGTGAGCACACCCAGA 0.448 NA G||| 152 0.0303514 0.0008 0.0403 5008 , , NA 17455 0.1181 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074030 CCDS58606.1 17q25.3 2013-01-09 2007-02-08 2007-02-08 ENSG00000173821 57674 RING-type (C3HC4) zinc fingers 14539 protein-coding gene gene with protein product 613768 chromosome 17 open reading frame 27, KIAA1618, moyamoya disease 2, Moyamoya disease 2 C17orf27, KIAA1618, MYMY2 NA 10997877, 21048783, 21799892 Standard NM_020914 NM_020954 NA Approved KIAA1554, NET57 uc021uen.2 Q63HN8 ENST00000508628.2:c.14126-424G>A chr17.hg19:g.78356355G>A NA C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8 hg19 0.02 1.818358 TGAxCAC COVERED NOVEL RNF213-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000364861.3 1 2.708885 KEEP 0 0 0 9 325 GG 0.99254 0.98629 0 + 4 60 141 0 0 9.484844 61 60 2265 83 ENST00000508628.2 0.061538 0.993703 AZI1 0 __UNKNOWN__ __UNKNOWN__ 17 79166157 79166157 __UNKNOWN__ Silent SNP C C T rs2279917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79166157C>T ENST00000450824.2 - 21 2761 c.2583G>A c.(2581-2583)ctG>ctA p.L861L AZI1_ENST00000374782.3_Silent_p.L825L|AZI1_ENST00000269392.4_Silent_p.L864L|AZI1_ENST00000575907.1_Silent_p.L828L Q9UPN4 CP131_HUMAN 864 NA cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283) BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829) protein homodimerization activity (GO:0042803) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCTGCCTCTCCAGCTCCAGCT 0.706 NA C||| 24 0.00479233 0.0 0.0014 5008 , , NA 10804 0.0198 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 12 13 12 NA NA 17 NA 79166157 2170 4281 6451 SO:0001819 synonymous_variant NA NA NA NA ENST00000450824.2:c.2583G>A chr17.hg19:g.79166157C>T NA A6NHI8|B2RN11|Q96F50 hg19 CCDS45808.1 0.02 -0.315835 CTCxAGC COVERED NOVEL AZI1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000439201.1 1 3.61084 KEEP 0 0 0 12 404 CC 0.993634 0.813254 0 - 3 60 108 0 0 7.747897 33 60 1233 54 ENST00000450824.2 0.083333 0.818465 C17orf70 80233 __UNKNOWN__ __UNKNOWN__ 17 79507989 79507989 __UNKNOWN__ Intron SNP C C T rs117092240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79507989C>T ENST00000327787.8 - 9 2561 C17orf70_ENST00000537152.1_Intron|C17orf70_ENST00000425898.2_Intron Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 NA NA DNA repair (GO:0006281) cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) GCAGGTGAAGCAGACACAGCT 0.672 NA C||| 99 0.0197684 0.0008 0.0101 5008 , , NA 17267 0.0853 NA 0.005 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 1,4343 0,1,2171 9 11 10 -0.2 0 17 dbSNP_132 10 2,8484 0,2,4241 no intron C17orf70 NM_025161.5 0,3,6412 TT,TC,CC 0.0236,0.023,0.0234 79507989 3,12827 2172 4243 6415 SO:0001627 intron_variant BC008883 CCDS32765.1, CCDS32765.2 17q25.3 2012-05-30 ENSG00000185504 ENSG00000185504 80233 26171 protein-coding gene gene with protein product Fanconi anemia-associated protein, 100kDa 611301 NA 17396147 Standard NM_025161 NM_025161 NA Approved FLJ22175, FAAP100 uc002kaq.3 Q0VG06 OTTHUMG00000167764 ENST00000327787.8:c.2515-13G>A chr17.hg19:g.79507989C>T NA A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8 hg19 CCDS32765.2 0.02 4.006036 AAGxAGA COVERED NOVEL C17orf70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396170.1 2 10.233512 KEEP 0 0 0 34 1213 CC 0.999998 0.999997 0 - 5 60 174 0 0 10.729177 117 60 4464 205 ENST00000327787.8 0.040984 0.999999 PYCR1 5831 __UNKNOWN__ __UNKNOWN__ 17 79894596 79894596 __UNKNOWN__ Intron SNP C C T rs181969864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79894596C>T ENST00000577756.1 - 1 122 PYCR1_ENST00000403172.4_Intron|PYCR1_ENST00000337943.5_Intron|PYCR1_ENST00000402252.2_Intron|PYCR1_ENST00000329875.8_Intron P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 NA NA cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735) endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172) TCCCACTGGGCCTCACCGTCC 0.652 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 15541 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C , 3,4379 0,3,2188 17 21 20 , 0 0 17 20 0,8578 0,0,4289 no intron,intron PYCR1 NM_006907.2,NM_153824.1 , 0,3,6477 TT,TC,CC 0.0,0.0685,0.0231 , , 79894596 3,12957 2191 4289 6480 SO:0001627 intron_variant CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1 17q25.3 2013-09-23 ENSG00000183010 ENSG00000183010 5831 1.5.1.2 9721 protein-coding gene gene with protein product 179035 NA 1730675 Standard XM_005256381 NA Approved P5C uc002kcr.1 P32322 OTTHUMG00000178436 ENST00000577756.1:c.67+27G>A chr17.hg19:g.79894596C>T NA A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4 hg19 0.02 2.10874 GGGxCTC COVERED NOVEL PYCR1-015 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441956.1 1 13.496044 KEEP 0 0 0 45 1512 CC 1 0.994422 0 - 6 60 203 0 0 14.434731 60 60 2236 139 ENST00000577756.1 0.090909 0.994422 ASPSCR1 79058 __UNKNOWN__ __UNKNOWN__ 17 79952700 79952700 __UNKNOWN__ Silent SNP G G A rs116149334 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79952700G>A ENST00000306739.4 + 5 475 c.378G>A c.(376-378)gaG>gaA p.E126E ASPSCR1_ENST00000580534.1_Silent_p.E49E|ASPSCR1_ENST00000306729.7_Silent_p.E126E|ASPSCR1_ENST00000581647.1_Silent_p.E126E NM_024083.3 NP_076988.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 126 NA glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506) ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTCCCAGGGAGTGCCTGCAGC 0.652 NA T TFE3 alveolar soft part sarcoma G||| 239 0.0477236 0.0946 0.0346 5008 , , NA 15221 0.0427 NA 0.0199 False NA ,,, NA NA NA 2504 0.0276 NA NA NA Dom yes 17 17q25 79058 alveolar soft part sarcoma chromosome region, candidate 1 M 0 G 331,4075 175.5+/-204.9 16,299,1888 70 77 75 378 3.4 1 17 dbSNP_132 75 244,8356 97.9+/-159.5 2,240,4058 no coding-synonymous ASPSCR1 NM_024083.2 18,539,5946 AA,AG,GG 2.8372,7.5125,4.421 126/554 79952700 575,12431 2203 4300 6503 SO:0001819 synonymous_variant AF324219 CCDS11796.1, CCDS58611.1 17q25 2011-06-28 ENSG00000169696 79058 UBX domain containing 13825 protein-coding gene gene with protein product UBX domain protein 9 606236 NA 11244503, 10506710 Standard NM_024083 NM_024083 NA Approved ASPS, ASPL, UBXD9, UBXN9 uc002kcy.3 Q9BZE9 ENST00000306739.4:c.378G>A chr17.hg19:g.79952700G>A NA A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40 hg19 CCDS11796.1 0.02 6.722311 GGAxTGC COVERED NOVEL ASPSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441972.1 3 8.889432 KEEP 0 2 64 52 1844 GG 1 1 0 + 15 60 536 0 0 38.08357 172 60 6465 321 ENST00000306739.4 0.080214 1 ASPSCR1 79058 __UNKNOWN__ __UNKNOWN__ 17 79972901 79972901 __UNKNOWN__ Intron SNP C C T rs9895872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79972901C>T ENST00000306739.4 + 13 1450 ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306729.7_Intron NM_024083.3 NP_076988.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 NA NA glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324) cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506) ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGGCCCTTCCCGGGCCCTGCT 0.672 NA T TFE3 alveolar soft part sarcoma C||| 2043 0.407947 0.3661 0.4654 5008 , , NA 17568 0.255 NA 0.5586 False NA ,,, NA NA NA 2504 0.4264 NA NA NA Dom yes 17 17q25 79058 alveolar soft part sarcoma chromosome region, candidate 1 M 0 C 623,1095 115,393,351 8 8 8 -0.5 0 17 dbSNP_119 8 2133,1815 600,933,441 no intron ASPSCR1 NM_024083.2 715,1326,792 TT,TC,CC 45.9726,36.2631,48.641 79972901 2756,2910 859 1974 2833 SO:0001627 intron_variant AF324219 CCDS11796.1, CCDS58611.1 17q25 2011-06-28 ENSG00000169696 79058 UBX domain containing 13825 protein-coding gene gene with protein product UBX domain protein 9 606236 NA 11244503, 10506710 Standard NM_024083 NM_024083 NA Approved ASPS, ASPL, UBXD9, UBXN9 uc002kcy.3 Q9BZE9 ENST00000306739.4:c.1354-1451C>T chr17.hg19:g.79972901C>T NA A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40 hg19 CCDS11796.1 0.02 4.627708 TCCxGGG COVERED NOVEL ASPSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441972.1 0 6.620731 KEEP 0 0 0 22 743 CC 0.999879 0.999869 0 + 8 60 290 0 0 20.436947 100 60 3671 145 ENST00000306739.4 0.074074 0.999991 LRRC45 201255 __UNKNOWN__ __UNKNOWN__ 17 79983260 79983260 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79983260C>T ENST00000306688.3 + 5 880 c.538C>T c.(538-540)Cgc>Tgc p.R180C LRRC45_ENST00000583383.1_3'UTR NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 180 NA centrosome (GO:0005813) lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TCCAGACCTGCGCTGGAATAA 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 78 77 77 NA NA 17 NA 79983260 2202 4300 6502 SO:0001583 missense BC014109 CCDS11797.1 17q25.3 2005-08-09 ENSG00000169683 201255 28302 protein-coding gene gene with protein product NA 12477932 Standard NM_144999 NM_144999 NA Approved MGC20806 uc002kde.3 Q96CN5 ENST00000306688.3:c.538C>T chr17.hg19:g.79983260C>T ENSP00000306760:p.Arg180Cys NA hg19 CCDS11797.1 0.02 4.136725 CTGxGCT COVERED . . . . . . . . . . C 19.94 3.920624 0.73213 . . ENSG00000169683 ENST00000306688 T 0.55052 0.54 4.4 4.4 0.53042 . 0.000000 0.85682 D 0.000000 T 0.73001 0.3531 M 0.77820 2.39 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 T 0.76231 -0.3035 9 . . . -17.1373 16.9807 0.86326 0.0:1.0:0.0:0.0 . 180 Q96CN5 LRC45_HUMAN C 180 ENSP00000306760:R180C . R + 1 0 LRRC45 77576549 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.574000 0.53863 1.999000 0.58509 0.563000 0.77884 CGC NOVEL LRRC45-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442058.1 1 18.024031 KEEP 0 0 0 60 2083 CC 1 1 0 + 6 60 214 1 0 13.711652 124 60 4461 234 ENST00000306688.3 0.046154 1 DCXR 51181 __UNKNOWN__ __UNKNOWN__ 17 79994026 79994026 __UNKNOWN__ Intron SNP G G A rs6502047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79994026G>A ENST00000306869.2 - 7 681 NM_001195218.1|NM_016286.3 NP_001182147.1|NP_057370.1 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase NA NA D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997) brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634) L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655) kidney(1)|lung(3) 4 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CACACACAGGGACTGCTGGCA 0.637 NA G||| 1080 0.215655 0.6263 0.0908 5008 , , NA 14281 0.0685 NA 0.1024 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 G , 2466,1936 605.7+/-390.6 698,1070,433 43 38 40 , 0 0 17 dbSNP_116 40 1017,7579 212.4+/-252.7 64,889,3345 no intron,intron DCXR NM_001195218.1,NM_016286.3 , 762,1959,3778 AA,AG,GG 11.8311,43.98,26.7964 , , 79994026 3483,9515 2201 4298 6499 SO:0001627 intron_variant AB013846 CCDS11799.1 17q25.3 2011-09-14 ENSG00000169738 51181 1.1.1.10 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 18985 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 20C, member 1 608347 NA 11882650, 19027726 Standard NM_016286 NA Approved KIDCR, DCR, SDR20C1 uc002kdg.3 Q7Z4W1 ENST00000306869.2:c.631+40C>T chr17.hg19:g.79994026G>A NA Q9BTZ3|Q9UHY9 hg19 CCDS11799.1 0.02 8.199784 AGGxACT COVERED NOVEL DCXR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442153.2 3 6.922468 KEEP 0 3 85 53 1790 GG 1 1 0 - 11 60 389 0 0 25.659788 189 60 6804 271 ENST00000306869.2 0.055 1 DCXR 51181 __UNKNOWN__ __UNKNOWN__ 17 79994600 79994600 __UNKNOWN__ Silent SNP C C T rs61739740|rs9780 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79994600C>T ENST00000306869.2 - 4 394 c.345G>A c.(343-345)tcG>tcA p.S115S DCXR_ENST00000584318.1_5'UTR NM_001195218.1|NM_016286.3 NP_001182147.1|NP_057370.1 Q7Z4W1 DCXR_HUMAN dicarbonyl/L-xylulose reductase 115 NA D-xylose metabolic process (GO:0042732)|glucose metabolic process (GO:0006006)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|xylulose metabolic process (GO:0005997) brush border (GO:0005903)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634) L-xylulose reductase (NADP+) activity (GO:0050038)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655) kidney(1)|lung(3) 4 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGCTCACCTGCGACACCTGGA 0.607 NA T||| 1080 0.215655 0.6256 0.0908 5008 , , NA 16475 0.0704 NA 0.1014 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 T , 2472,1934 549.6+/-377.8 696,1080,427 73 71 71 339,345 -9 0.2 17 dbSNP_129 71 1016,7584 771.5+/-407.7 63,890,3347 no coding-synonymous,coding-synonymous DCXR NM_001195218.1,NM_016286.3 , 759,1970,3774 TT,TC,CC 11.814,43.8947,26.8184 , 113/243,115/245 79994600 3488,9518 2203 4300 6503 SO:0001819 synonymous_variant AB013846 CCDS11799.1 17q25.3 2011-09-14 ENSG00000169738 51181 1.1.1.10 Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1 18985 protein-coding gene gene with protein product short chain dehydrogenase/reductase family 20C, member 1 608347 NA 11882650, 19027726 Standard NM_016286 NA Approved KIDCR, DCR, SDR20C1 uc002kdg.3 Q7Z4W1 ENST00000306869.2:c.345G>A chr17.hg19:g.79994600C>T NA Q9BTZ3|Q9UHY9 hg19 CCDS11799.1 0.02 17.31165 CTGxGAC COVERED NOVEL DCXR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442153.2 3 43.202892 KEEP 0 5 158 199 6813 CC 1 1 0 - 25 60 908 0 0 61.559946 396 60 13773 778 ENST00000306869.2 0.059382 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 79995616 79995616 __UNKNOWN__ IGR SNP A A G rs57552134 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:79995616A>G NA NA DCXR (8 upstream) : RP13-650J16.1 (164 downstream) NA NA NA TCTGGCCACGATGGGCGGGGC 0.687 NA G||| 1558 0.311102 0.6884 0.2478 5008 , , NA 13340 0.2272 NA 0.1272 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 1 2 2 NA NA 17 NA 79995616 367 1086 1453 SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.79995616A>G NA hg19 0.02 4.680573 ACGxTGG COVERED NOVEL 0 0 20.283368 KEEP 0 1 39 81 2417 AA 1 0.999973 0 6 60 222 0 0 15.157613 96 60 3425 243 0.058824 0.999973 RFNG 5986 __UNKNOWN__ __UNKNOWN__ 17 80007018 80007018 __UNKNOWN__ Intron SNP T T C rs12939972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80007018T>C ENST00000310496.4 - 7 836 RFNG_ENST00000584838.1_Intron|RFNG_ENST00000429557.3_Intron NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GTGGGCAGAGTGTGTGGCCTG 0.662 NA t||| 2952 0.589457 0.8124 0.6499 5008 , , NA 14403 0.3065 NA 0.6421 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 3480,926 715.7+/-408.5 1367,746,90 60 43 49 -4.4 0 17 dbSNP_121 49 5866,2732 661.9+/-401.9 1992,1882,425 no intron RFNG NM_002917.1 3359,2628,515 CC,CT,TT 31.7748,21.0168,28.1298 80007018 9346,3658 2203 4299 6502 SO:0001627 intron_variant BC069034 CCDS32773.1 17q25.3 2013-02-19 2006-11-13 ENSG00000169733 ENSG00000169733 5986 2.4.1.222 Beta 3-glycosyltransferases 9974 protein-coding gene gene with protein product 602578 radical fringe (Drosophila) homolog, radical fringe homolog (Drosophila) NA 9187150 Standard NM_002917 NM_002917 NA Approved uc002kdj.3 Q9Y644 OTTHUMG00000178512 ENST00000310496.4:c.829-26A>G chr17.hg19:g.80007018T>C NA O00588 hg19 CCDS32773.1 0.02 9.283296 GAGxGTG COVERED NOVEL RFNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442263.1 2 5.245078 KEEP 0 5 126 62 1763 TT 1 1 0 - 13 60 408 0 0 26.179176 195 60 6422 330 ENST00000310496.4 0.0625 1 RFNG 5986 __UNKNOWN__ __UNKNOWN__ 17 80007887 80007887 __UNKNOWN__ Intron SNP A A G rs9915228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80007887A>G ENST00000310496.4 - 5 581 RFNG_ENST00000584838.1_Intron|RFNG_ENST00000429557.3_Intron NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGTCACCTGAAGATGGGGTGG 0.597 NA G||| 2714 0.541933 0.6437 0.6311 5008 , , NA 16731 0.3115 NA 0.6382 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 G 2851,1537 929,993,272 35 39 37 -4 0 17 dbSNP_119 37 5768,2826 1931,1906,460 no intron RFNG NM_002917.1 2860,2899,732 GG,GA,AA 32.8834,35.0273,33.6081 80007887 8619,4363 2194 4297 6491 SO:0001627 intron_variant BC069034 CCDS32773.1 17q25.3 2013-02-19 2006-11-13 ENSG00000169733 ENSG00000169733 5986 2.4.1.222 Beta 3-glycosyltransferases 9974 protein-coding gene gene with protein product 602578 radical fringe (Drosophila) homolog, radical fringe homolog (Drosophila) NA 9187150 Standard NM_002917 NM_002917 NA Approved uc002kdj.3 Q9Y644 OTTHUMG00000178512 ENST00000310496.4:c.574-5T>C chr17.hg19:g.80007887A>G NA O00588 hg19 CCDS32773.1 0.02 17.75326 TGAxGAT COVERED NOVEL RFNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442263.1 1 5.929659 KEEP 0 9 316 130 4037 AA 1 1 0 - 19 60 728 0 0 49.575302 341 60 12746 662 ENST00000310496.4 0.052778 1 RFNG 5986 __UNKNOWN__ __UNKNOWN__ 17 80007897 80007897 __UNKNOWN__ Intron SNP G G T rs9915742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80007897G>T ENST00000310496.4 - 5 581 RFNG_ENST00000584838.1_Intron|RFNG_ENST00000429557.3_Intron NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AGATGGGGTGGTGGTCAGAGC 0.597 NA C||| 2765 0.552117 0.6853 0.6311 5008 , , NA 16660 0.3095 NA 0.6382 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 C 3003,1383 1032,939,222 33 36 35 -3 0 17 dbSNP_119 35 5774,2818 1936,1902,458 no intron RFNG NM_002917.1 2968,2841,680 TT,TG,GG 32.798,31.5321,32.3702 80007897 8777,4201 2193 4296 6489 SO:0001627 intron_variant BC069034 CCDS32773.1 17q25.3 2013-02-19 2006-11-13 ENSG00000169733 ENSG00000169733 5986 2.4.1.222 Beta 3-glycosyltransferases 9974 protein-coding gene gene with protein product 602578 radical fringe (Drosophila) homolog, radical fringe homolog (Drosophila) NA 9187150 Standard NM_002917 NM_002917 NA Approved uc002kdj.3 Q9Y644 OTTHUMG00000178512 ENST00000310496.4:c.574-15C>A chr17.hg19:g.80007897G>T NA O00588 hg19 CCDS32773.1 0.02 15.327254 GTGxTGG COVERED NOVEL RFNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442263.1 1 14.858669 KEEP 0 6 193 117 4160 GG 1 1 0 - 21 60 750 0 0 50.505813 330 60 12274 632 ENST00000310496.4 0.059829 1 RFNG 5986 __UNKNOWN__ __UNKNOWN__ 17 80008392 80008392 __UNKNOWN__ Silent SNP G G T rs9916764 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80008392G>T ENST00000310496.4 - 4 466 c.459C>A c.(457-459)gcC>gcA p.A153A RFNG_ENST00000584838.1_5'UTR|RFNG_ENST00000429557.3_Silent_p.A27A NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 153 NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) p.A153A(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGAGGCTCCTGGCGTTCACAT 0.657 NA G||| 2711 0.541334 0.6626 0.6254 5008 , , NA 17553 0.3085 NA 0.6203 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 1 Substitution - coding silent(1) haematopoietic_and_lymphoid_tissue(1) G 2906,1500 669.0+/-402.1 954,998,251 75 71 73 459 -1 0.3 17 dbSNP_119 73 5605,2993 664.2+/-402.1 1812,1981,506 no coding-synonymous RFNG NM_002917.1 2766,2979,757 TT,TG,GG 34.8104,34.0445,34.5509 153/332 80008392 8511,4493 2203 4299 6502 SO:0001819 synonymous_variant BC069034 CCDS32773.1 17q25.3 2013-02-19 2006-11-13 ENSG00000169733 ENSG00000169733 5986 2.4.1.222 Beta 3-glycosyltransferases 9974 protein-coding gene gene with protein product 602578 radical fringe (Drosophila) homolog, radical fringe homolog (Drosophila) NA 9187150 Standard NM_002917 NM_002917 NA Approved uc002kdj.3 Q9Y644 OTTHUMG00000178512 ENST00000310496.4:c.459C>A chr17.hg19:g.80008392G>T NA O00588 hg19 CCDS32773.1 0.02 12.942532 CCTxGCG COVERED NOVEL RFNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442263.1 3 20.371002 KEEP 0 6 183 132 4611 GG 1 1 0 - 13 60 417 0 0 24.793113 316 60 11518 562 ENST00000310496.4 0.039514 1 RFNG 5986 __UNKNOWN__ __UNKNOWN__ 17 80009156 80009156 __UNKNOWN__ Intron SNP T T C rs28552909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80009156T>C ENST00000310496.4 - 2 324 RFNG_ENST00000429557.3_Intron|GPS1_ENST00000583983.1_Intron NM_002917.1 NP_002908.1 Q9Y644 RFNG_HUMAN RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173) metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CGCCGGGGAGTGGGGGACACT 0.672 NA N||| 502 0.10024 0.1286 0.0893 5008 , , NA 10099 0.0843 NA 0.0994 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 5 6 6 NA NA 17 NA 80009156 2083 4170 6253 SO:0001627 intron_variant BC069034 CCDS32773.1 17q25.3 2013-02-19 2006-11-13 ENSG00000169733 ENSG00000169733 5986 2.4.1.222 Beta 3-glycosyltransferases 9974 protein-coding gene gene with protein product 602578 radical fringe (Drosophila) homolog, radical fringe homolog (Drosophila) NA 9187150 Standard NM_002917 NM_002917 NA Approved uc002kdj.3 Q9Y644 OTTHUMG00000178512 ENST00000310496.4:c.316+13A>G chr17.hg19:g.80009156T>C NA O00588 hg19 CCDS32773.1 0.02 3.930428 GAGxGGG COVERED NOVEL RFNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442263.1 2 20.746062 KEEP 0 0 0 69 1943 TT 1 0.999995 0 - 5 60 173 0 0 10.901025 103 60 3145 265 ENST00000310496.4 0.046296 0.999995 GPS1 2873 __UNKNOWN__ __UNKNOWN__ 17 80011975 80011975 __UNKNOWN__ Intron SNP G G A rs34809889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80011975G>A ENST00000306823.6 + 3 331 GPS1_ENST00000392358.2_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000355130.2_Intron Q13098 CSN1_HUMAN G protein pathway suppressor 1 NA NA cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AAGGGAGCGCGGGTGTCTGGG 0.647 NA A||| 475 0.0948482 0.1278 0.0893 5008 , , NA 17091 0.0794 NA 0.0994 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 A , 495,3891 30,435,1728 15 14 14 , -2.5 0 17 dbSNP_126 14 686,7890 25,636,3627 no intron,intron GPS1 NM_004127.4,NM_212492.1 , 55,1071,5355 AA,AG,GG 7.9991,11.2859,9.1112 , , 80011975 1181,11781 2193 4288 6481 SO:0001627 intron_variant CCDS11800.1, CCDS32774.1 17q25.3 2013-03-14 ENSG00000169727 2873 4549 protein-coding gene gene with protein product COP9 signalosome subunit 1 601934 NA 9535219 Standard NM_212492 NM_212492 NA Approved COPS1, CSN1 uc002kdl.1 Q13098 ENST00000306823.6:c.308+50G>A chr17.hg19:g.80011975G>A NA Q8NA10|Q9BWL1 hg19 CCDS32774.1 0.02 2.2855 CGCxGGT COVERED NOVEL GPS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442176.1 0 11.737239 KEEP 0 0 0 39 1327 GG 1 0.999218 0 + 7 60 271 0 0 20.132347 73 60 2671 135 ENST00000306823.6 0.0875 0.999218 GPS1 2873 __UNKNOWN__ __UNKNOWN__ 17 80012449 80012449 __UNKNOWN__ Silent SNP G G A rs11077966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80012449G>A ENST00000306823.6 + 4 407 c.384G>A c.(382-384)acG>acA p.T128T GPS1_ENST00000392358.2_Silent_p.T164T|GPS1_ENST00000578552.1_Silent_p.T124T|GPS1_ENST00000320548.4_Silent_p.T108T|GPS1_ENST00000355130.2_Silent_p.T164T Q13098 CSN1_HUMAN G protein pathway suppressor 1 128 NA cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CCCTGGACACGGCCTGGGTGG 0.637 NA .||| 490 0.0978435 0.1377 0.0879 5008 , , NA 16365 0.0833 NA 0.0994 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G , 544,3834 36,472,1681 22 20 21 384,492 -7.2 0.9 17 dbSNP_120 21 701,7887 25,651,3618 no coding-synonymous,coding-synonymous GPS1 NM_004127.4,NM_212492.1 , 61,1123,5299 AA,AG,GG 8.1626,12.4258,9.602 , 128/492,164/528 80012449 1245,11721 2189 4294 6483 SO:0001819 synonymous_variant CCDS11800.1, CCDS32774.1 17q25.3 2013-03-14 ENSG00000169727 2873 4549 protein-coding gene gene with protein product COP9 signalosome subunit 1 601934 NA 9535219 Standard NM_212492 NM_212492 NA Approved COPS1, CSN1 uc002kdl.1 Q13098 ENST00000306823.6:c.384G>A chr17.hg19:g.80012449G>A NA Q8NA10|Q9BWL1 hg19 CCDS32774.1 0.02 8.627244 CACxGCC COVERED NOVEL GPS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442176.1 0 26.989469 KEEP 0 1 26 99 3320 GG 1 1 0 + 13 60 465 0 0 31.594218 195 60 6511 369 ENST00000306823.6 0.0625 1 GPS1 2873 __UNKNOWN__ __UNKNOWN__ 17 80012769 80012769 __UNKNOWN__ Intron SNP G G A rs11655185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80012769G>A ENST00000306823.6 + 5 644 GPS1_ENST00000392358.2_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000355130.2_Intron Q13098 CSN1_HUMAN G protein pathway suppressor 1 NA NA cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GCGCCCCCCCGCCAGGTCAGC 0.657 NA .||| 501 0.10004 0.1445 0.0879 5008 , , NA 14484 0.0823 NA 0.0994 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 A , 564,3840 768.4+/-413.6 40,484,1678 60 59 60 , -9.3 0 17 dbSNP_120 60 710,7890 785.0+/-407.6 26,658,3616 no intron,intron GPS1 NM_004127.4,NM_212492.1 , 66,1142,5294 AA,AG,GG 8.2558,12.8065,9.797 , , 80012769 1274,11730 2202 4300 6502 SO:0001627 intron_variant CCDS11800.1, CCDS32774.1 17q25.3 2013-03-14 ENSG00000169727 2873 4549 protein-coding gene gene with protein product COP9 signalosome subunit 1 601934 NA 9535219 Standard NM_212492 NM_212492 NA Approved COPS1, CSN1 uc002kdl.1 Q13098 ENST00000306823.6:c.622-5G>A chr17.hg19:g.80012769G>A NA Q8NA10|Q9BWL1 hg19 CCDS32774.1 0.02 18.484478 CCCxCCA COVERED NOVEL GPS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442176.1 4 58.019483 KEEP 0 0 0 193 6518 GG 1 1 0 + 25 60 865 0 0 56.143748 441 60 15213 845 ENST00000306823.6 0.053648 1 GPS1 2873 __UNKNOWN__ __UNKNOWN__ 17 80012997 80012997 __UNKNOWN__ Intron SNP A A G rs35085155 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80012997A>G ENST00000306823.6 + 6 722 GPS1_ENST00000392358.2_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000355130.2_Intron Q13098 CSN1_HUMAN G protein pathway suppressor 1 NA NA cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GCTCTAGGAAATGTGGAGCAT 0.612 NA .||| 484 0.0966454 0.1286 0.0893 5008 , , NA 21366 0.0843 NA 0.0994 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 A , 484,3882 29,426,1728 41 38 39 , -8 0 17 dbSNP_126 39 688,7872 27,634,3619 no intron,intron GPS1 NM_004127.4,NM_212492.1 , 56,1060,5347 GG,GA,AA 8.0374,11.0857,9.067 , , 80012997 1172,11754 2183 4280 6463 SO:0001627 intron_variant CCDS11800.1, CCDS32774.1 17q25.3 2013-03-14 ENSG00000169727 2873 4549 protein-coding gene gene with protein product COP9 signalosome subunit 1 601934 NA 9535219 Standard NM_212492 NM_212492 NA Approved COPS1, CSN1 uc002kdl.1 Q13098 ENST00000306823.6:c.700-41A>G chr17.hg19:g.80012997A>G NA Q8NA10|Q9BWL1 hg19 CCDS32774.1 0.02 16.76357 GAAxTGT COVERED 221 0.10119047619047619 58 0.11788617886178862 35 0.09668508287292818 55 0.09615384615384616 73 0.09630606860158311 A 1.188 -0.636044 0.03557 0.110857 0.080374 ENSG00000169727 ENST00000392357 . . . 3.99 -7.98 0.01135 . . . . . T 0.00210 0.0006 . . . 0.80722 P 0.0 . . . . . . T 0.13548 -1.0505 3 . . . . 1.4077 0.02284 0.1401:0.2034:0.3528:0.3038 rs35085155 . . . S 203 . . N + 2 0 GPS1 77606286 0.002000 0.14202 0.000000 0.03702 0.009000 0.06853 -0.003000 0.12901 -2.230000 0.00719 -0.691000 0.03719 AAT NOVEL GPS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442176.1 0 35.202851 KEEP 0 0 0 117 3647 AA 1 1 0 + 22 60 809 0 0 55.517813 336 60 12127 577 ENST00000306823.6 0.061453 1 GPS1 2873 __UNKNOWN__ __UNKNOWN__ 17 80014861 80014861 __UNKNOWN__ Intron SNP T T G rs4969484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80014861T>G ENST00000306823.6 + 12 1424 GPS1_ENST00000392358.2_Intron|GPS1_ENST00000578552.1_Intron|GPS1_ENST00000320548.4_Intron|GPS1_ENST00000355130.2_Intron Q13098 CSN1_HUMAN G protein pathway suppressor 1 NA NA cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254) COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634) GTPase inhibitor activity (GO:0005095) breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GTGGGCTGGCTTGAGGGGGGG 0.667 NA .||| 2941 0.58726 0.826 0.6369 5008 , , NA 15810 0.3095 NA 0.6243 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 , 3521,885 335.2+/-303.8 1398,725,80 39 43 41 , -1.4 0 17 dbSNP_111 41 5615,2983 455.0+/-363.7 1816,1983,500 no intron,intron GPS1 NM_004127.4,NM_212492.1 , 3214,2708,580 GG,GT,TT 34.6941,20.0862,29.7447 , , 80014861 9136,3868 2203 4299 6502 SO:0001627 intron_variant CCDS11800.1, CCDS32774.1 17q25.3 2013-03-14 ENSG00000169727 2873 4549 protein-coding gene gene with protein product COP9 signalosome subunit 1 601934 NA 9535219 Standard NM_212492 NM_212492 NA Approved COPS1, CSN1 uc002kdl.1 Q13098 ENST00000306823.6:c.1401+11T>G chr17.hg19:g.80014861T>G NA Q8NA10|Q9BWL1 hg19 CCDS32774.1 0.02 12.285997 GGCxTGA COVERED NOVEL GPS1-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000442176.1 2 19.089578 KEEP 0 1 36 76 2360 TT 1 1 0 + 19 60 641 0 0 41.251256 326 60 11828 506 ENST00000306823.6 0.055072 1 NARF 26502 __UNKNOWN__ __UNKNOWN__ 17 80426635 80426635 __UNKNOWN__ Intron SNP T T C rs2306752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80426635T>C ENST00000457415.3 + 4 353 NARF_ENST00000581743.1_Intron|NARF_ENST00000412079.2_Intron|NARF_ENST00000345415.7_Intron|NARF_ENST00000309794.11_Intron|NARF_ENST00000390006.4_Intron Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor NA NA lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634) lamin binding (GO:0005521) endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TATTTCTCCTTCTAGAAATGT 0.373 NA T||| 338 0.067492 0.0038 0.036 5008 , , NA 20777 0.1567 NA 0.0905 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 T ,,, 71,4335 65.3+/-102.7 0,71,2132 177 167 170 ,,, -0.9 0 17 dbSNP_100 170 691,7909 170.7+/-221.8 30,631,3639 no intron,intron,intron,intron NARF NM_001038618.2,NM_001083608.1,NM_012336.3,NM_031968.2 ,,, 30,702,5771 CC,CT,TT 8.0349,1.6114,5.8588 ,,, ,,, 80426635 762,12244 2203 4300 6503 SO:0001627 intron_variant BC000438 CCDS32777.1, CCDS42403.1, CCDS42404.1 17q25.3 2011-12-19 ENSG00000141562 ENSG00000141562 26502 29916 protein-coding gene gene with protein product iron-only hydrogenase-like protein 2 605349 NA 10514485, 15667261 Standard NM_031968 NM_031968 NA Approved FLJ10067, DKFZp434G0420, IOP2 uc002kfg.4 Q9UHQ1 ENST00000457415.3:c.253-5T>C chr17.hg19:g.80426635T>C NA A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6 hg19 0.02 21.256242 CCTxCTA COVERED NOVEL NARF-018 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000443578.1 4 28.580886 KEEP 0 0 0 95 2924 TT 1 1 0 + 28 60 1026 0 0 69.94001 443 70 15962 700 ENST00000457415.3 0.059448 1 FOXK2 3607 __UNKNOWN__ __UNKNOWN__ 17 80517182 80517182 __UNKNOWN__ Intron SNP A A G rs4789701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80517182A>G ENST00000335255.5 + 2 593 NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TGTTCTTCCCATCTCTGCTAC 0.587 NA A||| 303 0.0605032 0.0015 0.147 5008 , , NA 20397 0.1875 NA 0.0 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58196 CCDS11813.1 17q25 2006-12-15 2004-03-09 2004-03-10 ENSG00000141568 ENSG00000141568 3607 Forkhead boxes 6036 protein-coding gene gene with protein product 147685 interleukin enhancer binding factor 1 ILF, ILF1 NA 3260003 Standard NM_181430 NM_004514 NA Approved uc002kfn.3 Q01167 OTTHUMG00000140374 ENST00000335255.5:c.420-4048A>G chr17.hg19:g.80517182A>G NA A6NEP5|Q13622|Q13623|Q13624 hg19 CCDS11813.1 0.02 4.120703 CCCxTCT COVERED NOVEL FOXK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277099.2 1 9.027313 KEEP 0 0 0 30 946 AA 0.999997 0.999989 0 + 12 60 409 0 0 30.268252 96 60 3510 149 ENST00000335255.5 0.111111 0.999992 FOXK2 3607 __UNKNOWN__ __UNKNOWN__ 17 80534334 80534334 __UNKNOWN__ Intron SNP A A G rs4789800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80534334A>G ENST00000335255.5 + 4 1083 NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) AGGAGGGTTAAGTCATTTTGG 0.398 NA G||| 1634 0.326278 0.3419 0.3458 5008 , , NA 18509 0.3978 NA 0.2237 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58196 CCDS11813.1 17q25 2006-12-15 2004-03-09 2004-03-10 ENSG00000141568 ENSG00000141568 3607 Forkhead boxes 6036 protein-coding gene gene with protein product 147685 interleukin enhancer binding factor 1 ILF, ILF1 NA 3260003 Standard NM_181430 NM_004514 NA Approved uc002kfn.3 Q01167 OTTHUMG00000140374 ENST00000335255.5:c.909+4588A>G chr17.hg19:g.80534334A>G NA A6NEP5|Q13622|Q13623|Q13624 hg19 CCDS11813.1 0.02 4.299961 TTAxGTC COVERED NOVEL FOXK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277099.2 1 4.513495 KEEP 0 0 0 15 479 AA 0.99649 0.99649 0 + 5 60 192 0 0 12.317528 129 60 4546 152 ENST00000335255.5 0.037313 1 FOXK2 3607 __UNKNOWN__ __UNKNOWN__ 17 80544117 80544117 __UNKNOWN__ Intron SNP G G A rs12602562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80544117G>A ENST00000335255.5 + 7 1750 NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) accacagggaggtgaaaggtg 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 5 7 6 NA NA 17 NA 80544117 1897 3844 5741 SO:0001627 intron_variant U58196 CCDS11813.1 17q25 2006-12-15 2004-03-09 2004-03-10 ENSG00000141568 ENSG00000141568 3607 Forkhead boxes 6036 protein-coding gene gene with protein product 147685 interleukin enhancer binding factor 1 ILF, ILF1 NA 3260003 Standard NM_181430 NM_004514 NA Approved uc002kfn.3 Q01167 OTTHUMG00000140374 ENST00000335255.5:c.1576+41G>A chr17.hg19:g.80544117G>A NA A6NEP5|Q13622|Q13623|Q13624 hg19 CCDS11813.1 0.02 2.182261 GGAxGTG COVERED NOVEL FOXK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277099.2 6 10.232705 KEEP 23 0 0 34 1178 GG 0.999957 0.99619 0 + 5 60 179 0 0 13.183381 46 60 1642 129 ENST00000335255.5 0.098039 0.996233 FOXK2 3607 __UNKNOWN__ __UNKNOWN__ 17 80544216 80544216 __UNKNOWN__ Intron SNP G G A rs192420523 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80544216G>A ENST00000335255.5 + 7 1750 NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) accacagggaggtcaaaggta 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U58196 CCDS11813.1 17q25 2006-12-15 2004-03-09 2004-03-10 ENSG00000141568 ENSG00000141568 3607 Forkhead boxes 6036 protein-coding gene gene with protein product 147685 interleukin enhancer binding factor 1 ILF, ILF1 NA 3260003 Standard NM_181430 NM_004514 NA Approved uc002kfn.3 Q01167 OTTHUMG00000140374 ENST00000335255.5:c.1576+140G>A chr17.hg19:g.80544216G>A NA A6NEP5|Q13622|Q13623|Q13624 hg19 CCDS11813.1 0.02 2.305097 GGAxGTC COVERED NOVEL FOXK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277099.2 3 4.548951 KEEP 22 1 31 26 894 GG 0.99986 0.976728 0 + 4 60 130 0 0 9.509329 31 60 1110 136 ENST00000335255.5 0.114286 0.976865 FOXK2 3607 __UNKNOWN__ __UNKNOWN__ 17 80560494 80560494 __UNKNOWN__ 3'UTR SNP G G A rs4822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80560494G>A ENST00000335255.5 + 0 3276 NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 NA NA positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355) intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634) magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TGCAGGGCACGTCTGGGGCAT 0.607 NA G||| 636 0.126997 0.0651 0.1037 5008 , , NA 16065 0.1925 NA 0.2008 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U58196 CCDS11813.1 17q25 2006-12-15 2004-03-09 2004-03-10 ENSG00000141568 ENSG00000141568 3607 Forkhead boxes 6036 protein-coding gene gene with protein product 147685 interleukin enhancer binding factor 1 ILF, ILF1 NA 3260003 Standard NM_181430 NM_004514 NA Approved uc002kfn.3 Q01167 OTTHUMG00000140374 ENST00000335255.5:c.*1119G>A chr17.hg19:g.80560494G>A NA A6NEP5|Q13622|Q13623|Q13624 hg19 CCDS11813.1 0.02 6.5528 CACxTCT COVERED NOVEL FOXK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277099.2 1 23.473909 KEEP 0 0 0 78 2650 GG 1 1 0 + 8 60 297 0 0 19.062793 185 60 6269 314 ENST00000335255.5 0.041451 1 RAB40B 10966 __UNKNOWN__ __UNKNOWN__ 17 80617552 80617552 __UNKNOWN__ Intron SNP G G A rs2279395 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80617552G>A ENST00000269347.6 - 5 820 RAB40B_ENST00000571995.1_Intron|RAB40B_ENST00000538809.2_Intron Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family NA NA protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264) plasma membrane (GO:0005886) GTP binding (GO:0005525) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GAGGTCACAGGCTCAGCACGC 0.468 NA G||| 612 0.122204 0.0946 0.0807 5008 , , NA 25199 0.1796 NA 0.171 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G 472,3934 221.0+/-238.3 23,426,1754 114 88 97 2.5 0 17 dbSNP_100 97 1597,7003 297.4+/-303.4 162,1273,2865 no intron RAB40B NM_006822.2 185,1699,4619 AA,AG,GG 18.5698,10.7127,15.908 80617552 2069,10937 2203 4300 6503 SO:0001627 intron_variant U05227 CCDS11816.1 17q25.3 2014-08-12 ENSG00000141542 ENSG00000141542 10966 RAB, member RAS oncogene 18284 protein-coding gene gene with protein product NA 11697911 Standard NM_006822 NA Approved SEC4L, RAR uc002kft.3 Q12829 OTTHUMG00000177806 ENST00000269347.6:c.273-19C>T chr17.hg19:g.80617552G>A NA Q8WVG3 hg19 0.02 6.807168 CAGxCTC COVERED NOVEL RAB40B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000439009.1 2 20.467649 KEEP 0 0 0 68 2496 GG 1 1 0 - 11 60 373 0 0 25.172178 155 60 5794 287 ENST00000269347.6 0.066265 1 RAB40B 10966 __UNKNOWN__ __UNKNOWN__ 17 80626055 80626055 __UNKNOWN__ Intron SNP C C T rs72853027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80626055C>T ENST00000269347.6 - 3 698 RAB40B_ENST00000571995.1_Intron|RAB40B_ENST00000538809.2_Intron Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family NA NA protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264) plasma membrane (GO:0005886) GTP binding (GO:0005525) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) ggtagctctccgcagctggtc 0.597 NA C||| 589 0.117612 0.0749 0.0793 5008 , , NA 17920 0.1845 NA 0.17 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U05227 CCDS11816.1 17q25.3 2014-08-12 ENSG00000141542 ENSG00000141542 10966 RAB, member RAS oncogene 18284 protein-coding gene gene with protein product NA 11697911 Standard NM_006822 NA Approved SEC4L, RAR uc002kft.3 Q12829 OTTHUMG00000177806 ENST00000269347.6:c.395-3623G>A chr17.hg19:g.80626055C>T NA Q8WVG3 hg19 0.02 4.209701 CTCxGCA COVERED NOVEL RAB40B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000439009.1 1 20.765677 KEEP 0 0 0 69 2331 CC 1 1 0 - 6 60 225 0 0 14.747919 127 60 4483 235 ENST00000269347.6 0.045113 1 FN3K 64122 __UNKNOWN__ __UNKNOWN__ 17 80703435 80703435 __UNKNOWN__ Intron SNP G G A rs4789717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80703435G>A ENST00000300784.7 + 5 530 RP11-388C12.8_ENST00000572594.1_RNA NM_022158.3 NP_071441.1 Q9H479 FN3K_HUMAN fructosamine 3 kinase NA NA epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393) fructosamine-3-kinase activity (GO:0030387) central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1) 4 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) atattcatccgtgatacacat 0.408 NA G||| 352 0.0702875 0.0083 0.0432 5008 , , NA 20747 0.1498 NA 0.0934 False NA ,,, NA NA NA 2504 0.0675 NA NA NA Melanoma(10;391 597 14592 32548 32749) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ404615 CCDS11818.1 17q25 2008-02-05 ENSG00000167363 64122 24822 protein-coding gene gene with protein product 608425 NA 11522682, 14641062 Standard NM_022158 NM_022158 NA Approved uc010wvs.1 Q9H479 ENST00000300784.7:c.469-3296G>A chr17.hg19:g.80703435G>A NA hg19 CCDS11818.1 0.02 -0.262774 TCCxTGA COVERED NOVEL FN3K-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439229.1 0 3.009689 KEEP 0 0 0 10 341 GG 0.992708 0.68861 0 + 3 60 112 0 0 8.398816 27 60 980 40 ENST00000300784.7 0.1 0.693668 TBCD 6904 __UNKNOWN__ __UNKNOWN__ 17 80710099 80710099 __UNKNOWN__ Silent SNP C C T rs11550067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:80710099C>T ENST00000355528.4 + 1 160 c.30C>T c.(28-30)ggC>ggT p.G10G TBCD_ENST00000539345.2_Silent_p.G10G|TBCD_ENST00000397466.2_5'UTR NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 10 NA 'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830) adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923) beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096) NA Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CGGCCGCGGGCGGCCCCGAGG 0.741 NA C||| 37 0.00738818 0.003 0.0058 5008 , , NA 8998 0.0169 NA 0.008 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 C 9,2997 0,9,1494 3 4 4 30 1.4 0 17 dbSNP_120 4 98,6474 0,98,3188 no coding-synonymous TBCD NM_005993.4 0,107,4682 TT,TC,CC 1.4912,0.2994,1.1171 10/1193 80710099 107,9471 1503 3286 4789 SO:0001819 synonymous_variant BC003094 CCDS45818.1 17q25.3 2006-11-21 2006-11-21 ENSG00000141556 6904 11581 protein-coding gene gene with protein product 604649 tubulin-specific chaperone d NA Standard NM_005993 NM_005993 NA Approved uc002kfz.3 Q9BTW9 ENST00000355528.4:c.30C>T chr17.hg19:g.80710099C>T NA O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3 hg19 CCDS45818.1 0.02 2.199923 GGGxGGC COVERED NOVEL TBCD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000439415.1 0 21.066505 KEEP 0 0 0 70 2393 CC 1 0.995084 0 + 7 60 234 0 0 17.002556 60 60 2055 194 ENST00000355528.4 0.104478 0.995084 METRNL 284207 __UNKNOWN__ __UNKNOWN__ 17 81050964 81050964 __UNKNOWN__ Silent SNP C C T rs187879933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:81050964C>T ENST00000320095.7 + 3 734 c.609C>T c.(607-609)agC>agT p.S203S METRNL_ENST00000571814.1_Silent_p.S121S|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000570778.1_Silent_p.S121S NM_001004431.1 NP_001004431.1 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 203 NA brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) hormone activity (GO:0005179) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TCTGCACCAGCGACTTCGGTG 0.637 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 19640 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 85 67 73 NA NA 17 NA 81050964 2202 4298 6500 SO:0001819 synonymous_variant AK093748 CCDS32779.1 17q25.3 2004-12-01 ENSG00000176845 284207 27584 protein-coding gene gene with protein product NA Standard NM_001004431 NM_001004431 NA Approved uc002kgh.3 Q641Q3 ENST00000320095.7:c.609C>T chr17.hg19:g.81050964C>T NA B3KSJ5|Q86VM0 hg19 CCDS32779.1 0.02 10.310527 CAGxGAC COVERED NOVEL METRNL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438902.1 1 30.392071 KEEP 0 0 0 101 3389 CC 1 1 0 + 9 60 296 0 0 16.921269 255 60 8655 449 ENST00000320095.7 0.034091 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 17 81082365 81082365 __UNKNOWN__ IGR SNP C C T rs71193780|rs74193240 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr17:81082365C>T NA NA AC144831.1 (18505 upstream) : AC139099.4 (9534 downstream) NA NA NA TGCCGGGCGACGCTCAGGGCG 0.692 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr17.hg19:g.81082365C>T NA hg19 0.02 2.135944 CGAxGCT COVERED NOVEL 0 0 7.153365 KEEP 2 1 32 35 1164 CC 0.999999 0.992092 0 6 40 183 0 0 12.70891 56 60 1920 126 0.096774 0.992094 RP11-683L23.1 0 __UNKNOWN__ __UNKNOWN__ 18 49125 49125 __UNKNOWN__ Silent SNP G G T rs11875825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:49125G>T ENST00000573909.1 - 2 626 c.94C>A c.(94-96)Cga>Aga p.R32R RP11-683L23.1_ENST00000308911.6_Intron NA NA NA GACGGGGGTCGCACCGCTGGC 0.692 NA .||| 3029 0.604832 0.4561 0.5663 5008 , , NA 11689 0.8839 NA 0.5288 False NA ,,, NA NA NA 2504 0.6237 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000573909.1:c.94C>A chr18.hg19:g.49125G>T NA hg19 0.02 -0.333235 GTCxCAC COVERED NOVEL RP11-683L23.1-002 PUTATIVE not_best_in_genome_evidence|basic protein_coding NA protein_coding OTTHUMT00000439819.1 0 4.815397 KEEP 1 0 0 16 549 GG 0.997832 0.850137 0 - 3 36 110 0 0 7.8749 35 50 1148 73 ENST00000573909.1 0.078947 0.851984 ROCK1P1 727758 __UNKNOWN__ __UNKNOWN__ 18 110526 110526 __UNKNOWN__ RNA SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:110526A>T ENST00000608049.1 + 0 389 NR_033770.1 Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 NA NA NA gctttgtgacatatctatgca 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 18p11.32 2012-10-04 ENSG00000263006 ENSG00000263006 727758 37832 pseudogene pseudogene NA Standard NR_033770 NA Approved uc002kke.3 OTTHUMG00000177913 ENST00000608049.1: chr18.hg19:g.110526A>T NA hg19 0.02 1.619876 GACxTAT UNCOVERED NOVEL ROCK1P1-003 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000472417.1 6 4.513362 KEEP 47 0 0 15 467 AA 0 0 0 + 2 39 72 2 1 8.154018 0 0 0 179 ENST00000608049.1 1 0.999956 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 559753 559753 __UNKNOWN__ IGR SNP T T G rs71174252|rs60252685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:559753T>G NA NA RP11-14P20.1 (44459 upstream) : CETN1 (20613 downstream) NA NA NA gagacggggtttcaccgtgtt 0.617 NA T||| 3737 0.746206 0.7632 0.781 5008 , , NA 8043 0.7738 NA 0.6451 False NA ,,, NA NA NA 2504 0.774 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.559753T>G NA hg19 0.02 -0.03507 GGTxTCA UNCOVERED NOVEL 0 4 2.406589 KEEP 7 0 0 8 233 TT 0 0 0 3 59 95 0 0 10.927708 0 0 0 16 1 0.019982 C18orf56 0 __UNKNOWN__ __UNKNOWN__ 18 658035 658035 __UNKNOWN__ Silent SNP A A G rs77400748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:658035A>G ENST00000323813.3 - 1 305 c.213T>C c.(211-213)ggT>ggC p.G71G C18orf56_ENST00000585033.1_Silent_p.G71G|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323274.10_Intron NM_001012716.2 NP_001012734.2 Q8TAI1 TYMOS_HUMAN 71 NA NA GGCGCTGCGGACCCCGTTTAG 0.692 NA A||| 143 0.0285543 0.0151 0.0029 5008 , , NA 11935 0.0843 NA 0.002 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 A , 41,4283 0,41,2121 11 9 10 213, -3.1 0 18 dbSNP_131 10 2,8456 0,2,4227 no coding-synonymous,intron TYMS,C18orf56 NM_001012716.2,NM_001071.2 , 0,43,6348 GG,GA,AA 0.0236,0.9482,0.3364 , 71/124, 658035 43,12739 2162 4229 6391 SO:0001819 synonymous_variant NA NA NA NA ENST00000323813.3:c.213T>C chr18.hg19:g.658035A>G NA A8K1S1 hg19 0.02 15.277553 CGGxCCC COVERED NOVEL C18orf56-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000441199.2 1 23.768595 KEEP 0 0 0 79 2402 AA 1 1 0 - 18 60 562 0 0 34.695133 341 60 11080 532 ENST00000323813.3 0.050139 1 C18orf56 0 __UNKNOWN__ __UNKNOWN__ 18 658332 658332 __UNKNOWN__ 5'UTR SNP C C T rs72634355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:658332C>T ENST00000323813.3 - 0 8 TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323224.7_Intron|TYMS_ENST00000323274.10_Intron NM_001012716.2 NP_001012734.2 Q8TAI1 TYMOS_HUMAN NA NA NA TGGCTTTGGCCCCTCCTCCGT 0.637 NA C||| 1608 0.321086 0.3079 0.1974 5008 , , NA 14982 0.5843 NA 0.1173 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000323813.3:c.-85G>A chr18.hg19:g.658332C>T NA A8K1S1 hg19 0.02 2.071654 GGCxCCT COVERED NOVEL C18orf56-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000441199.2 1 7.559271 KEEP 0 1 34 37 1270 CC 1 0.999894 0 - 4 60 154 0 0 10.145707 89 60 3163 155 ENST00000323813.3 0.043011 0.999895 ENOSF1 55556 __UNKNOWN__ __UNKNOWN__ 18 685818 685818 __UNKNOWN__ Intron SNP A A G rs76254077 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:685818A>G ENST00000251101.7 - 10 830 ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000319815.6_Intron|ENOSF1_ENST00000583973.1_Intron|ENOSF1_ENST00000580982.1_Intron NM_017512.5 NP_059982.2 Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 NA NA cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275) mitochondrion (GO:0005739) isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 ACTTCCTCTGACAATTAACTT 0.363 NA A||| 331 0.0660942 0.0023 0.0173 5008 , , NA 21401 0.2431 NA 0.0417 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X67098 CCDS11822.1, CCDS11823.1, CCDS45821.1 18p11.32 2005-01-26 ENSG00000132199 ENSG00000132199 55556 30365 protein-coding gene gene with protein product 607427 NA 14508106 Standard NM_017512 NM_001126123 NA Approved HSRTSBETA, rTS, TYMSAS uc002kku.4 Q7L5Y1 OTTHUMG00000131470 ENST00000251101.7:c.741+102T>C chr18.hg19:g.685818A>G NA A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6 hg19 CCDS11822.1 0.02 4.508359 CTGxCAA COVERED NOVEL ENOSF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254312.2 2 7.222399 KEEP 0 0 0 24 781 AA 0.999909 0.999909 0 - 5 60 189 0 0 12.034626 128 60 4550 168 ENST00000251101.7 0.037594 1 ADCYAP1 116 __UNKNOWN__ __UNKNOWN__ 18 909561 909561 __UNKNOWN__ Silent SNP A A G rs2231187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:909561A>G ENST00000579794.1 + 4 734 c.456A>G c.(454-456)aaA>aaG p.K152K ADCYAP1_ENST00000450565.3_Silent_p.K152K NM_001117.3 NP_001108.2 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) 152 Important for receptor binding. NA activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195) neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 CTGTCAAGAAATACTTGGCGG 0.557 NA A||| 1014 0.202476 0.0802 0.2709 5008 , , NA 11583 0.2411 NA 0.3191 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 A , 548,3858 241.8+/-252.1 36,476,1691 99 118 111 456,456 5.2 1 18 dbSNP_98 111 2798,5802 435.4+/-358.0 454,1890,1956 no coding-synonymous,coding-synonymous ADCYAP1 NM_001099733.1,NM_001117.3 , 490,2366,3647 GG,GA,AA 32.5349,12.4376,25.7266 , 152/177,152/177 909561 3346,9660 2203 4300 6503 SO:0001819 synonymous_variant S83513 CCDS11825.1 18p11 2013-02-28 ENSG00000141433 ENSG00000141433 116 Endogenous ligands 241 protein-coding gene gene with protein product prepro-PACAP 102980 NA 1730060 Standard NM_001117 NM_001099733 NA Approved PACAP uc010dkh.4 P18509 OTTHUMG00000131479 ENST00000579794.1:c.456A>G chr18.hg19:g.909561A>G NA B2R7N4|Q52LQ0 hg19 CCDS11825.1 0.02 9.082151 GAAxTAC COVERED NOVEL ADCYAP1-003 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000440765.3 1 7.222054 KEEP 0 0 0 24 759 AA 0.999909 0.999909 0 + 7 60 271 0 0 17.071423 206 60 7388 275 ENST00000579794.1 0.032864 1 METTL4 64863 __UNKNOWN__ __UNKNOWN__ 18 2569985 2569985 __UNKNOWN__ Intron SNP T T A rs74337507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:2569985T>A ENST00000319888.6 - 1 361 METTL4_ENST00000574538.1_Intron Q8N3J2 METL4_HUMAN methyltransferase like 4 NA NA nucleobase-containing compound metabolic process (GO:0006139) methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GTGAAAAGAGTCACCAGGGTT 0.488 NA T||| 176 0.0351438 0.0023 0.0591 5008 , , NA 19072 0.128 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS11826.1 18p11.31 2008-02-05 ENSG00000101574 ENSG00000101574 64863 24726 protein-coding gene gene with protein product NA 12477932 Standard NM_022840 NM_022840 NA Approved FLJ23017, HsT661 uc002klh.4 Q8N3J2 OTTHUMG00000131482 ENST00000319888.6:c.437+1162A>T chr18.hg19:g.2569985T>A NA B2RNA1|Q2TAA7|Q9H5U9 hg19 0.02 3.611179 GAGxCAC COVERED NOVEL METTL4-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000440910.1 0 17.443725 KEEP 0 0 0 58 1654 TT 1 1 0 - 7 60 240 0 0 15.43888 126 60 4407 200 ENST00000319888.6 0.052632 1 SMCHD1 23347 __UNKNOWN__ __UNKNOWN__ 18 2793398 2793398 __UNKNOWN__ Intron SNP A A C rs4798027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:2793398A>C ENST00000320876.6 + 46 6057 RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 NA NA chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821) Barr body (GO:0001740) ATP binding (GO:0005524) NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 gcagtggctcatgcctgtaat 0.438 NA A||| 905 0.180711 0.0855 0.1326 5008 , , NA 17746 0.4435 NA 0.0815 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014550 CCDS45822.1 18p11.32 2010-05-12 ENSG00000101596 ENSG00000101596 23347 29090 protein-coding gene gene with protein product 614982 NA 9734811 Standard NM_015295 NA Approved KIAA0650 uc002klm.4 A6NHR9 ENST00000320876.6:c.5720-2549A>C chr18.hg19:g.2793398A>C NA O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39 hg19 CCDS45822.1 0.02 -0.078961 CTCxTGC UNCOVERED NOVEL SMCHD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000441082.2 6 4.212078 KEEP 4 0 0 14 424 AA 0.992708 0.076772 0 + 2 60 77 0 0 6.583886 7 60 266 31 ENST00000320876.6 0.222222 0.077336 EMILIN2 84034 __UNKNOWN__ __UNKNOWN__ 18 2891478 2891478 __UNKNOWN__ Silent SNP T T C rs3810067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:2891478T>C ENST00000254528.3 + 4 1512 c.1353T>C c.(1351-1353)aaT>aaC p.N451N NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 451 NA cell adhesion (GO:0007155) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix constituent conferring elasticity (GO:0030023) p.N451N(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CAAAATGGAATGAACTCGATG 0.468 NA T||| 381 0.0760783 0.0408 0.0418 5008 , , NA 22641 0.2024 NA 0.0209 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 141,4265 102.1+/-140.7 2,137,2064 96 100 99 1353 -10.8 0 18 dbSNP_107 99 294,8306 108.2+/-168.9 6,282,4012 no coding-synonymous EMILIN2 NM_032048.2 8,419,6076 CC,CT,TT 3.4186,3.2002,3.3446 451/1054 2891478 435,12571 2203 4300 6503 SO:0001819 synonymous_variant AF270513 CCDS11828.1 18p11.3 2008-02-05 ENSG00000132205 ENSG00000132205 84034 EMI domain containing 19881 protein-coding gene gene with protein product 608928 NA Standard NM_032048 NM_032048 NA Approved FLJ33200, FOAP-10 uc002kln.3 Q9BXX0 OTTHUMG00000128525 ENST00000254528.3:c.1353T>C chr18.hg19:g.2891478T>C NA B2RMY3|Q8NBH3|Q96JQ4 hg19 CCDS11828.1 0.02 17.220917 GAAxGAA COVERED NOVEL EMILIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000250337.2 4 45.43202 KEEP 0 0 0 151 4691 TT 1 1 0 + 21 60 685 0 0 41.482518 444 60 16336 749 ENST00000254528.3 0.045161 1 LPIN2 9663 __UNKNOWN__ __UNKNOWN__ 18 2919606 2919606 __UNKNOWN__ 3'UTR SNP A A T rs607549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:2919606A>T ENST00000261596.4 - 0 3614 NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 NA NA cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TCTGGTGAGGACTAAGAAATT 0.498 NA T||| 3462 0.691294 0.6271 0.7565 5008 , , NA 18300 0.7083 NA 0.7515 False NA ,,, NA NA NA 2504 0.6524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D87436 CCDS11829.1 18p 2014-09-17 ENSG00000101577 ENSG00000101577 9663 14450 protein-coding gene gene with protein product 605519 NA 11138012, 9039502 Standard NM_014646 NM_014646 NA Approved KIAA0249 uc002klo.3 Q92539 OTTHUMG00000131508 ENST00000261596.4:c.*685T>A chr18.hg19:g.2919606A>T NA A7MD25|D3DUH3 hg19 CCDS11829.1 0.02 5.88087 AGGxCTA COVERED NOVEL LPIN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254363.2 0 9.283312 KEEP 0 3 74 57 1800 AA 1 1 0 - 11 60 368 0 0 23.805197 181 60 6425 323 ENST00000261596.4 0.057292 1 TGIF1 7050 __UNKNOWN__ __UNKNOWN__ 18 3457244 3457244 __UNKNOWN__ Intron SNP G G C rs451488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:3457244G>C ENST00000577543.1 + 3 521 TGIF1_ENST00000472042.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000330513.5_Intron Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 NA NA determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) TTCAGATAAGGCTTTTCATGC 0.383 NA C||| 1231 0.245807 0.5015 0.1124 5008 , , NA 18818 0.2728 NA 0.0795 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X89750 CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1 18p11.31 2011-06-20 2007-01-30 2007-01-30 ENSG00000177426 ENSG00000177426 7050 Homeoboxes / TALE class 11776 protein-coding gene gene with protein product 602630 TGFB-induced factor (TALE family homeobox) HPE4, TGIF NA 8537382, 10835638 Standard NM_170695 NM_173211 NA Approved uc002klz.3 Q15583 OTTHUMG00000131511 ENST00000577543.1:c.244-151G>C chr18.hg19:g.3457244G>C NA A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0 hg19 0.02 2.259264 AAGxCTT COVERED NOVEL TGIF1-021 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441910.1 0 7.825033 KEEP 0 0 0 26 888 GG 0.999957 0.999444 0 + 4 60 152 0 0 10.14795 79 60 2801 120 ENST00000577543.1 0.048193 0.999487 TGIF1 7050 __UNKNOWN__ __UNKNOWN__ 18 3457539 3457539 __UNKNOWN__ 3'UTR SNP A A G rs2229337 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:3457539A>G ENST00000577543.1 + 0 666 TGIF1_ENST00000472042.1_Silent_p.P120P|TGIF1_ENST00000407501.2_Silent_p.P140P|TGIF1_ENST00000548489.2_Silent_p.P154P|TGIF1_ENST00000343820.5_Silent_p.P140P|TGIF1_ENST00000345133.5_Silent_p.P120P|TGIF1_ENST00000405385.3_Silent_p.P120P|TGIF1_ENST00000551541.1_Silent_p.P120P|TGIF1_ENST00000400167.2_Silent_p.P120P|TGIF1_ENST00000401449.1_Silent_p.P120P|TGIF1_ENST00000330513.5_Silent_p.P269P Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 NA NA determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) AGGAGACCCCATTTCATTCCT 0.537 NA G||| 959 0.191494 0.3116 0.0922 5008 , , NA 17980 0.2778 NA 0.0696 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 G ,,,,,,, 1242,3164 705.0+/-407.2 170,902,1131 52 50 50 420,807,462,420,360,360,360,360 -10.8 0.1 18 dbSNP_98 50 648,7952 790.1+/-407.6 23,602,3675 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous TGIF1 NM_003244.2,NM_170695.2,NM_173207.1,NM_173208.1,NM_173209.1,NM_173210.1,NM_173211.1,NM_174886.1 ,,,,,,, 193,1504,4806 GG,GA,AA 7.5349,28.1888,14.5318 ,,,,,,, 140/273,269/402,154/287,140/273,120/253,120/253,120/253,120/253 3457539 1890,11116 2203 4300 6503 SO:0001624 3_prime_UTR_variant X89750 CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1 18p11.31 2011-06-20 2007-01-30 2007-01-30 ENSG00000177426 ENSG00000177426 7050 Homeoboxes / TALE class 11776 protein-coding gene gene with protein product 602630 TGFB-induced factor (TALE family homeobox) HPE4, TGIF NA 8537382, 10835638 Standard NM_170695 NM_173211 NA Approved uc002klz.3 Q15583 OTTHUMG00000131511 ENST00000577543.1:c.*133A>G chr18.hg19:g.3457539A>G NA A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0 hg19 0.02 6.171424 CCCxTTT COVERED NOVEL TGIF1-021 PUTATIVE alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000441910.1 1 14.739588 KEEP 0 0 0 49 1439 AA 1 1 0 + 8 60 278 0 0 17.171367 185 60 6614 259 ENST00000577543.1 0.041451 1 DLGAP1 9229 __UNKNOWN__ __UNKNOWN__ 18 3497714 3497714 __UNKNOWN__ 3'UTR SNP T T C rs10513868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:3497714T>C ENST00000315677.3 - 0 4998 DLGAP1_ENST00000400155.1_3'UTR|DLGAP1_ENST00000400149.3_3'UTR|DLGAP1_ENST00000400150.3_3'UTR|DLGAP1_ENST00000400147.2_3'UTR NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 NA NA synaptic transmission (GO:0007268) cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GTTTAAACTGTGACGAGTAAG 0.363 NA C||| 823 0.164337 0.2663 0.0663 5008 , , NA 21110 0.2202 NA 0.0706 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB000277 CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1 18p11.3 2008-07-28 2001-11-28 ENSG00000170579 ENSG00000170579 9229 2905 protein-coding gene gene with protein product 605445 discs, large (Drosophila) homolog-associated protein 1 NA 9024696, 9286858 Standard NM_004746 NA Approved GKAP, SAPAP1, DAP-1 uc002kmf.3 O14490 OTTHUMG00000131537 ENST00000315677.3:c.*1469A>G chr18.hg19:g.3497714T>C NA A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335 hg19 CCDS11836.1 0.02 6.695016 CTGxGAC COVERED NOVEL DLGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254394.4 0 10.228025 KEEP 0 0 0 34 1022 TT 0.999998 0.999998 0 - 7 60 246 0 0 15.543266 149 60 5351 222 ENST00000315677.3 0.044872 1 DLGAP1 9229 __UNKNOWN__ __UNKNOWN__ 18 3639191 3639191 __UNKNOWN__ Intron SNP C C T rs34995851 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:3639191C>T ENST00000315677.3 - 8 2187 DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000400147.2_Intron|DLGAP1_ENST00000400145.2_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000515196.2_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000534970.1_Intron|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1_ENST00000539435.1_Intron NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 NA NA synaptic transmission (GO:0007268) cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) cccgtctgtactaaaaataca 0.552 NA C||| 531 0.10603 0.0045 0.0706 5008 , , NA 16379 0.2679 NA 0.0626 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB000277 CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1 18p11.3 2008-07-28 2001-11-28 ENSG00000170579 ENSG00000170579 9229 2905 protein-coding gene gene with protein product 605445 discs, large (Drosophila) homolog-associated protein 1 NA 9024696, 9286858 Standard NM_004746 NA Approved GKAP, SAPAP1, DAP-1 uc002kmf.3 O14490 OTTHUMG00000131537 ENST00000315677.3:c.1592-56945G>A chr18.hg19:g.3639191C>T NA A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335 hg19 CCDS11836.1 0.02 -0.035094 GTAxTAA UNCOVERED NOVEL DLGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254394.4 2 4.21376 KEEP 2 0 0 14 504 CC 0.993634 0.019854 0 - 2 60 75 0 0 7.250059 2 60 76 25 ENST00000315677.3 0.5 0.019982 DLGAP1 9229 __UNKNOWN__ __UNKNOWN__ 18 3729175 3729175 __UNKNOWN__ Silent SNP C C T rs3745051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:3729175C>T ENST00000315677.3 - 7 2146 c.1551G>A c.(1549-1551)ccG>ccA p.P517P DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Silent_p.P517P|DLGAP1_ENST00000400147.2_Silent_p.P215P|DLGAP1_ENST00000400145.2_Silent_p.P215P|DLGAP1_ENST00000400149.3_Silent_p.P225P|DLGAP1_ENST00000515196.2_Silent_p.P517P|DLGAP1_ENST00000581699.1_Silent_p.P223P|DLGAP1_ENST00000534970.1_Silent_p.P229P|DLGAP1_ENST00000584874.1_Silent_p.P517P|DLGAP1_ENST00000400155.1_Silent_p.P223P|DLGAP1_ENST00000400150.3_Silent_p.P223P|DLGAP1_ENST00000539435.1_Silent_p.P215P NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 517 NA synaptic transmission (GO:0007268) cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) TGGTGGTGCGCGGCGGCGAGG 0.682 NA C||| 1275 0.254593 0.348 0.1744 5008 , , NA 17054 0.3581 NA 0.1123 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 C ,,,,,,, 1316,3090 431.0+/-342.8 218,880,1105 46 36 39 645,1551,687,687,669,645,645,1551 1.8 1 18 dbSNP_107 39 945,7653 201.1+/-244.7 61,823,3415 yes coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DLGAP1 NM_001003809.2,NM_001242761.1,NM_001242762.1,NM_001242763.1,NM_001242764.1,NM_001242765.1,NM_001242766.1,NM_004746.3 ,,,,,,, 279,1703,4520 TT,TC,CC 10.9909,29.8684,17.387 ,,,,,,, 215/676,517/930,229/662,229/700,223/684,215/628,215/686,517/978 3729175 2261,10743 2203 4299 6502 SO:0001819 synonymous_variant AB000277 CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1 18p11.3 2008-07-28 2001-11-28 ENSG00000170579 ENSG00000170579 9229 2905 protein-coding gene gene with protein product 605445 discs, large (Drosophila) homolog-associated protein 1 NA 9024696, 9286858 Standard NM_004746 NA Approved GKAP, SAPAP1, DAP-1 uc002kmf.3 O14490 OTTHUMG00000131537 ENST00000315677.3:c.1551G>A chr18.hg19:g.3729175C>T NA A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335 hg19 CCDS11836.1 0.02 3.947752 GCGxGGC COVERED NOVEL DLGAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254394.4 1 10.834933 KEEP 0 0 0 36 1244 CC 0.999999 0.999999 0 - 11 60 383 0 0 26.817526 129 60 4646 215 ENST00000315677.3 0.078571 1 L3MBTL4 91133 __UNKNOWN__ __UNKNOWN__ 18 6302059 6302059 __UNKNOWN__ Intron SNP C C T rs7241792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:6302059C>T ENST00000284898.6 - 4 273 L3MBTL4_ENST00000400105.2_Intron|L3MBTL4_ENST00000317931.7_Intron|L3MBTL4_ENST00000400104.3_Intron NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) NA NA chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TGAAGATCCTCGTCACTGAGG 0.438 NA T||| 981 0.195887 0.2481 0.17 5008 , , NA 19561 0.2173 NA 0.162 False NA ,,, NA NA NA 2504 0.1564 NA NA NA Esophageal Squamous(41;748 902 17366 28959 43175) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039316 CCDS11839.2 18p11.31-p11.23 2013-01-10 ENSG00000154655 ENSG00000154655 91133 Sterile alpha motif (SAM) domain containing 26677 protein-coding gene gene with protein product NA 14702039 Standard NM_173464 NM_173464 NA Approved FLJ35936, HsT1031 uc010dkt.3 Q8NA19 OTTHUMG00000131573 ENST00000284898.6:c.73-103G>A chr18.hg19:g.6302059C>T NA A8MTL8|Q8IXS3 hg19 CCDS11839.2 0.02 11.865061 CCTxGTC COVERED NOVEL L3MBTL4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254448.2 1 11.469868 KEEP 0 1 31 49 1634 CC 1 1 0 - 12 60 435 0 0 27.89893 270 60 9413 408 ENST00000284898.6 0.042553 1 L3MBTL4 91133 __UNKNOWN__ __UNKNOWN__ 18 6302077 6302077 __UNKNOWN__ Intron SNP C C T rs7241798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:6302077C>T ENST00000284898.6 - 4 273 L3MBTL4_ENST00000400105.2_Intron|L3MBTL4_ENST00000317931.7_Intron|L3MBTL4_ENST00000400104.3_Intron NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) NA NA chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) AGGCGGACAACGCACACAATA 0.443 NA c||| 980 0.195687 0.2481 0.17 5008 , , NA 19490 0.2173 NA 0.162 False NA ,,, NA NA NA 2504 0.1554 NA NA NA Esophageal Squamous(41;748 902 17366 28959 43175) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC039316 CCDS11839.2 18p11.31-p11.23 2013-01-10 ENSG00000154655 ENSG00000154655 91133 Sterile alpha motif (SAM) domain containing 26677 protein-coding gene gene with protein product NA 14702039 Standard NM_173464 NM_173464 NA Approved FLJ35936, HsT1031 uc010dkt.3 Q8NA19 OTTHUMG00000131573 ENST00000284898.6:c.73-121G>A chr18.hg19:g.6302077C>T NA A8MTL8|Q8IXS3 hg19 CCDS11839.2 0.02 11.69392 CAAxGCA COVERED NOVEL L3MBTL4-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254448.2 0 13.24186 KEEP 0 0 0 44 1517 CC 1 1 0 - 11 60 408 0 0 26.352358 245 60 8431 362 ENST00000284898.6 0.042969 1 ARHGAP28 79822 __UNKNOWN__ __UNKNOWN__ 18 6851058 6851058 __UNKNOWN__ Missense_Mutation SNP C C G rs6506448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:6851058C>G ENST00000383472.4 + 4 673 c.569C>G c.(568-570)aCt>aGt p.T190S ARHGAP28_ENST00000531294.1_Missense_Mutation_p.T31S|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.T138S|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.T190S|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.T31S|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.T31S|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.T31S|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.T13S Q9P2N2 RHG28_HUMAN Rho GTPase activating protein 28 190 NA T -> S (in dbSNP:rs6506448). regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGCAACCACACTAATCAGCTG 0.453 NA C||| 407 0.08127 0.0106 0.0807 5008 , , NA 19291 0.2698 NA 0.001 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 C SER/THR 45,4361 47.5+/-82.1 0,45,2158 164 140 148 92 4.4 0 18 dbSNP_116 148 16,8584 10.5+/-38.8 0,16,4284 yes missense ARHGAP28 NM_001010000.2 58 0,61,6442 GG,GC,CC 0.186,1.0213,0.469 benign 31/571 6851058 61,12945 2203 4300 6503 SO:0001583 missense BC033668 CCDS32785.1 18p11.23 2011-06-29 ENSG00000088756 79822 Rho GTPase activating proteins 25509 protein-coding gene gene with protein product 610592 NA 10718198 Standard XM_371108 NM_001010000 NA Approved KIAA1314, FLJ10312 uc002kne.3 Q9P2N2 ENST00000383472.4:c.569C>G chr18.hg19:g.6851058C>G ENSP00000372964:p.Thr190Ser NA A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53 hg19 0.02 8.882451 ACAxTAA COVERED 181 0.08287545787545787 4 0.008130081300813009 16 0.04419889502762431 160 0.27972027972027974 1 0.0013192612137203166 C 0.314 -0.966232 0.02232 0.010213 0.00186 ENSG00000088756 ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472 T;T;T;T;T;T 0.20463 2.07;2.07;3.22;3.2;3.22;3.13 4.41 4.41 0.53225 . 0.431057 0.20937 N 0.082998 T 0.00012 0.0000 N 0.04508 -0.205 0.80722 P 0.0 B;B;B 0.13145 0.001;0.004;0.007 B;B;B 0.11329 0.001;0.005;0.006 T 0.37314 -0.9711 9 0.09084 T 0.74 . 12.81 0.57635 0.0:1.0:0.0:0.0 rs6506448;rs52827385;rs6506448 22;31;138 E9PRP2;F6VKJ9;Q9P2N2-2 .;.;. S 190;138;31;31;31;31;22;13 ENSP00000382963:T190S;ENSP00000262227:T138S;ENSP00000392660:T31S;ENSP00000437262:T31S;ENSP00000313506:T31S;ENSP00000406907:T31S ENSP00000262227:T138S T + 2 0 ARHGAP28 6841058 0.002000 0.14202 0.014000 0.15608 0.008000 0.06430 1.563000 0.36364 2.739000 0.93911 0.655000 0.94253 ACT NOVEL ARHGAP28-006 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000442123.3 2 11.437188 KEEP 0 0 0 38 1365 CC 1 1 0 + 10 60 379 0 0 25.152697 203 60 7682 307 ENST00000383472.4 0.046948 1 LAMA1 284217 __UNKNOWN__ __UNKNOWN__ 18 7035915 7035915 __UNKNOWN__ Intron SNP A A C rs677136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:7035915A>C ENST00000389658.3 - 13 1933 NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 NA NA axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304) basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) CTCACCTAGTAACTTTCAGTC 0.483 NA C||| 1984 0.396166 0.6626 0.33 5008 , , NA 20154 0.2847 NA 0.339 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X58531 CCDS32787.1 18p11.3 2013-03-01 ENSG00000101680 ENSG00000101680 284217 Laminins 6481 protein-coding gene gene with protein product 150320 LAMA NA 2591971 Standard NM_005559 NM_005559 NA Approved uc002knm.3 P25391 OTTHUMG00000133478 ENST00000389658.3:c.1839+70T>G chr18.hg19:g.7035915A>C NA hg19 CCDS32787.1 0.02 4.036411 AGTxACT COVERED NOVEL LAMA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257369.1 1 3.943243 KEEP 0 1 34 25 737 AA 0.999957 0.999957 0 - 8 60 268 0 0 17.584023 122 60 4321 186 ENST00000389658.3 0.061538 1 SOGA2 0 __UNKNOWN__ __UNKNOWN__ 18 8832268 8832268 __UNKNOWN__ 3'UTR SNP C C T rs3744975 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:8832268C>T ENST00000517570.1 + 0 5502 SOGA2_ENST00000518815.1_3'UTR|SOGA2_ENST00000581670.1_3'UTR|SOGA2_ENST00000359865.3_3'UTR|SOGA2_ENST00000306285.7_3'UTR|SOGA2_ENST00000400050.3_3'UTR NA NA NA CTGTTTTTTACGAATTTTTTA 0.333 NA C||| 1607 0.320887 0.205 0.2968 5008 , , NA 17910 0.4077 NA 0.3738 False NA ,,, NA NA NA 2504 0.3507 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000517570.1:c.*682C>T chr18.hg19:g.8832268C>T NA hg19 0.02 9.173972 TTAxGAA COVERED NOVEL SOGA2-003 KNOWN basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000379400.2 0 8.728179 KEEP 0 0 0 29 1004 CC 0.999997 0.999997 0 + 14 60 521 0 0 36.331083 200 60 6853 277 ENST00000517570.1 0.065421 1 TWSG1 57045 __UNKNOWN__ __UNKNOWN__ 18 9399821 9399821 __UNKNOWN__ 3'UTR SNP G G A rs2298545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:9399821G>A ENST00000262120.5 + 0 1159 NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 NA NA BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 TTTTTAACATGAAGTCTGACG 0.388 NA G||| 2179 0.435104 0.497 0.451 5008 , , NA 17856 0.2887 NA 0.4622 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AA486291 CCDS11844.1 18p11.3 2013-10-03 2013-10-03 ENSG00000128791 ENSG00000128791 57045 12429 protein-coding gene gene with protein product 605049 twisted gastrulation homolog 1 (Drosophila) NA 11260715 Standard NM_020648 NA Approved TSG uc002knz.3 Q9GZX9 OTTHUMG00000131597 ENST00000262120.5:c.*296G>A chr18.hg19:g.9399821G>A NA B2RE08|D3DUH9|Q8NBI7|Q96K46 hg19 CCDS11844.1 0.02 9.108526 CATxAAG COVERED NOVEL TWSG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254480.2 1 10.232995 KEEP 0 0 0 34 1178 GG 0.999998 0.999998 0 + 8 60 299 0 0 18.962275 202 60 7685 273 ENST00000262120.5 0.038095 1 TWSG1 57045 __UNKNOWN__ __UNKNOWN__ 18 9400422 9400422 __UNKNOWN__ 3'UTR SNP T T C rs13285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:9400422T>C ENST00000262120.5 + 0 1760 NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 NA NA BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 GAAATGGTGTTGCTGAAAGGG 0.517 NA C||| 2437 0.486621 0.6853 0.4654 5008 , , NA 19144 0.2887 NA 0.4622 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AA486291 CCDS11844.1 18p11.3 2013-10-03 2013-10-03 ENSG00000128791 ENSG00000128791 57045 12429 protein-coding gene gene with protein product 605049 twisted gastrulation homolog 1 (Drosophila) NA 11260715 Standard NM_020648 NA Approved TSG uc002knz.3 Q9GZX9 OTTHUMG00000131597 ENST00000262120.5:c.*897T>C chr18.hg19:g.9400422T>C NA B2RE08|D3DUH9|Q8NBI7|Q96K46 hg19 CCDS11844.1 0.02 10.039948 TGTxGCT COVERED NOVEL TWSG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254480.2 1 11.733451 KEEP 0 0 0 39 1193 TT 1 1 0 + 10 60 336 0 0 20.176626 240 60 8651 334 ENST00000262120.5 0.04 1 TXNDC2 84203 __UNKNOWN__ __UNKNOWN__ 18 9887546 9887546 __UNKNOWN__ Missense_Mutation SNP G G A rs2240906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:9887546G>A ENST00000306084.6 + 2 1269 c.1070G>A c.(1069-1071)gGt>gAt p.G357D TXNDC2_ENST00000357775.5_Missense_Mutation_p.G290D|TXNDC2_ENST00000536353.2_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 357 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. NA G -> D (in dbSNP:rs2240906). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520) nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CCCAAGAAGGGTGACATCCCC 0.572 NA g||| 2412 0.481629 0.3548 0.4481 5008 , , NA 22318 0.8155 NA 0.4185 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 G ASP/GLY,ASP/GLY 1660,2746 314,1032,857 151 142 145 1070,869 0.9 0 18 dbSNP_98 145 3635,4965 796,2043,1461 no missense,missense TXNDC2 NM_001098529.1,NM_032243.5 94,94 1110,3075,2318 AA,AG,GG 42.2674,37.6759,40.712 benign,benign 357/554,290/487 9887546 5295,7711 2203 4300 6503 SO:0001583 missense AF080095 CCDS11846.1, CCDS42414.1 18p11.31-p11.2 2009-03-11 2009-03-11 2007-08-16 ENSG00000168454 ENSG00000168454 84203 16470 protein-coding gene gene with protein product sperm-specific thioredoxin 1 NA 11230166, 11399755 Standard NM_001098529 NA Approved SPTRX1 uc002koi.4 Q86VQ3 OTTHUMG00000131602 ENST00000306084.6:c.1070G>A chr18.hg19:g.9887546G>A ENSP00000304908:p.Gly357Asp NA A5YM73|Q8N7U4|Q96RX3|Q9H0L8 hg19 CCDS42414.1 0.02 22.178237 AGGxTGA COVERED 1104 0.5054945054945055 165 0.3353658536585366 156 0.430939226519337 458 0.8006993006993007 325 0.4287598944591029 - 3.140 -0.176442 0.06380 0.376759 0.422674 ENSG00000168454 ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718 T;T 0.32988 1.43;1.43 3.74 0.852 0.18995 . . . . . T 0.00012 0.0000 N 0.25485 0.75 0.80722 P 0.0 B 0.17667 0.023 B 0.24155 0.051 T 0.16928 -1.0386 7 . . . -0.4401 6.3628 0.21437 0.1838:0.2762:0.54:0.0 rs2240906;rs60707091;rs2240906 357 Q86VQ3 TXND2_HUMAN D 155;290;357;342 ENSP00000350419:G290D;ENSP00000304908:G357D . G + 2 0 TXNDC2 9877546 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.783000 0.01770 -0.049000 0.13379 -0.813000 0.03139 GGT NOVEL TXNDC2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254487.1 6 37.621361 KEEP 1 0 0 125 4417 GG 1 1 0 + 35 60 1244 0 0 85.031459 499 60 17866 819 ENST00000306084.6 0.065543 1 VAPA 9218 __UNKNOWN__ __UNKNOWN__ 18 9954246 9954246 __UNKNOWN__ 3'UTR SNP T T C rs181545794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:9954246T>C ENST00000400000.2 + 0 1043 VAPA_ENST00000340541.4_3'UTR NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa NA NA cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982) protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198) breast(1)|lung(2)|prostate(1) 4 TTTTTTTTTTTCTCTTGACCA 0.373 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 17592 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 97 88 91 NA NA 18 NA 9954246 1809 4072 5881 SO:0001624 3_prime_UTR_variant CCDS11847.2, CCDS11848.2 18p11.2 2008-07-28 2002-08-29 ENSG00000101558 ENSG00000101558 9218 12648 protein-coding gene gene with protein product 605703 VAMP (vesicle-associated membrane protein)-associated protein A (33kD) NA 9920726, 9657962 Standard NM_003574 NA Approved hVAP-33, VAP-A uc002koj.3 Q9P0L0 OTTHUMG00000131603 ENST00000400000.2:c.*38T>C chr18.hg19:g.9954246T>C NA A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2 hg19 CCDS11848.2 0.02 14.279387 TTTxCTC COVERED NOVEL VAPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254490.1 1 36.664803 KEEP 0 0 0 122 3867 TT 1 1 0 + 14 60 466 0 0 27.853957 358 70 12979 650 ENST00000400000.2 0.037634 1 APCDD1 147495 __UNKNOWN__ __UNKNOWN__ 18 10488091 10488091 __UNKNOWN__ 3'UTR SNP G G T rs1045584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:10488091G>T ENST00000355285.5 + 0 1955 NM_153000.4 NP_694545.1 adenomatosis polyposis coli down-regulated 1 NA NA NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) TGACAGATTTGCTTTACCAAA 0.428 NA T||| 2536 0.50639 0.5363 0.5317 5008 , , NA 17036 0.62 NA 0.4334 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB056722 CCDS11849.1 18p11.21 2006-07-07 ENSG00000154856 ENSG00000154856 147495 15718 protein-coding gene gene with protein product 607479 NA 12384519 Standard NM_153000 NM_153000 NA Approved B7323 uc002kom.4 Q8J025 OTTHUMG00000131635 ENST00000355285.5:c.*56G>T chr18.hg19:g.10488091G>T NA hg19 CCDS11849.1 0.02 4.021207 TTTxCTT COVERED NOVEL APCDD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254529.2 2 9.668654 KEEP 0 1 37 45 1633 GG 1 1 0 + 5 60 181 0 0 11.091856 137 60 5134 215 ENST00000355285.5 0.035211 1 PIEZO2 63895 __UNKNOWN__ __UNKNOWN__ 18 10797567 10797567 __UNKNOWN__ Intron SNP A A G rs56112279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:10797567A>G ENST00000503781.3 - 12 1378 PIEZO2_ENST00000302079.6_Intron|PIEZO2_ENST00000580640.1_Intron NM_022068.2 NP_071351.2 Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 NA NA cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612) integral component of membrane (GO:0016021) cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381) NA AACATGTGACATTTGTATAAA 0.338 NA G||| 1036 0.206869 0.0764 0.1974 5008 , , NA 20279 0.1806 NA 0.3618 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 G 145,1239 6,133,553 61 47 51 -2.3 0 18 dbSNP_129 51 1158,2024 198,762,631 no intron PIEZO2 NM_022068.2 204,895,1184 GG,GA,AA 36.3922,10.4769,28.537 10797567 1303,3263 692 1591 2283 SO:0001627 intron_variant AK027056 18p11.21 2012-11-19 2011-08-31 2011-08-31 ENSG00000154864 ENSG00000154864 63895 26270 protein-coding gene gene with protein product 613629 chromosome 18 open reading frame 30, chromosome 18 open reading frame 58, family with sequence similarity 38, member B FAM38B2, C18orf30, C18orf58, FAM38B NA 20813920, 21056836, 21299953 Standard NM_022068 NM_022068 NA Approved FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907 uc002kos.2 Q9H5I5 OTTHUMG00000178507 ENST00000503781.3:c.1379-47T>C chr18.hg19:g.10797567A>G NA B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4 hg19 0.02 10.040621 GACxTTT COVERED NOVEL PIEZO2-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000442385.4 0 7.821522 KEEP 0 0 0 26 773 AA 0.999957 0.999957 0 - 8 60 289 0 0 16.889072 277 60 10235 332 ENST00000503781.3 0.02807 1 GNAL 2774 __UNKNOWN__ __UNKNOWN__ 18 11867297 11867297 __UNKNOWN__ Intron SNP C C T rs2855646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:11867297C>T ENST00000423027.3 + 8 1000 GNAL_ENST00000535121.1_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000602628.1_Intron|GNAL_ENST00000269162.5_Intron P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type NA NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 CTTAACTATTCTTGAATTAGA 0.323 NA T||| 1273 0.254193 0.4357 0.1268 5008 , , NA 21033 0.127 NA 0.1938 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 T ,, 523,861 110,303,279 99 94 95 ,, 3.2 0 18 dbSNP_100 95 688,2494 85,518,988 no intron,intron,intron GNAL NM_001142339.1,NM_002071.3,NM_182978.2 ,, 195,821,1267 TT,TC,CC 21.6216,37.789,26.5221 ,, ,, 11867297 1211,3355 692 1591 2283 SO:0001627 intron_variant AF493893 CCDS11851.1, CCDS11852.1, CCDS58614.1 18p11.22-p11.21 2003-12-17 ENSG00000141404 ENSG00000141404 2774 4388 protein-coding gene gene with protein product 139312 NA 1302014 Standard NM_182978, NM_002071 NM_182978 NA Approved uc002kqc.3 P38405 OTTHUMG00000131660 ENST00000423027.3:c.679+72C>T chr18.hg19:g.11867297C>T NA B7ZA26|Q86XU3 hg19 CCDS11852.1 0.02 5.387444 ATTxTTG COVERED NOVEL GNAL-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254561.2 0 8.12611 KEEP 0 0 0 27 959 CC 0.999988 0.999988 0 + 7 60 246 0 0 15.095404 173 60 6586 226 ENST00000423027.3 0.038889 1 AP005482.1 0 __UNKNOWN__ __UNKNOWN__ 18 12658191 12658191 __UNKNOWN__ 5'Flank SNP T T G rs3902981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:12658191T>G ENST00000400514.2 + 0 0 AP005482.1_ENST00000585853.2_3'UTR NA NA NA GGCCGGGGGATGCACGCTCTG 0.781 NA T||| 1561 0.311701 0.3449 0.2867 5008 , , NA 6565 0.3026 NA 0.4066 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001631 upstream_gene_variant NA NA NA NA ENST00000400514.2: chr18.hg19:g.12658191T>G Exception_encountered NA hg19 0.02 -0.30564 GGAxGCA COVERED NOVEL AP005482.1-002 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000156288.2 0 6.009347 KEEP 0 0 0 20 575 TT 0.999863 0.800136 0 + 3 60 112 0 0 8.192416 32 60 1042 75 ENST00000400514.2 0.085714 0.800245 PSMG2 56984 __UNKNOWN__ __UNKNOWN__ 18 12703067 12703067 __UNKNOWN__ 5'UTR SNP A A G rs3809916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:12703067A>G ENST00000317615.6 + 0 643 PSMG2_ENST00000590217.1_5'UTR|PSMG2_ENST00000585331.2_Intron NM_020232.4 NP_064617.2 proteasome (prosome, macropain) assembly chaperone 2 NA NA lung(1)|prostate(2)|skin(1) 4 CGTTCTTGCCAGGGCCGCGGT 0.701 NA A||| 1528 0.305112 0.2882 0.2882 5008 , , NA 14053 0.3036 NA 0.4334 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 A , 1483,2921 252,979,971 16 16 16 , -5.5 0 18 dbSNP_107 16 3829,4767 873,2083,1342 no utr-5,intron PSMG2 NM_020232.4,NM_147163.1 , 1125,3062,2313 GG,GA,AA 44.544,33.6739,40.8615 , , 12703067 5312,7688 2202 4298 6500 SO:0001623 5_prime_UTR_variant AF276707 CCDS11862.1, CCDS67440.1 18p11.21 2012-01-25 2007-10-23 2007-10-23 ENSG00000128789 ENSG00000128789 56984 24929 protein-coding gene gene with protein product hepatocellular carcinoma susceptibility protein, CD40 ligand-activated specific transcript 3 609702 tumor necrosis factor superfamily, member 5-induced protein 1 TNFSF5IP1 NA 11854909, 12147697, 17189198 Standard NM_020232 NM_147163 NA Approved HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2 uc002krk.3 Q969U7 OTTHUMG00000131703 ENST00000317615.6:c.-40A>G chr18.hg19:g.12703067A>G NA hg19 CCDS11862.1 0.02 11.700849 GCCxGGG COVERED NOVEL PSMG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254615.1 4 44.974344 KEEP 0 4 145 200 6275 AA 1 1 0 + 23 60 773 0 0 54.098415 255 60 9376 636 ENST00000317615.6 0.082734 1 PSMG2 56984 __UNKNOWN__ __UNKNOWN__ 18 12703192 12703192 __UNKNOWN__ Intron SNP C C T rs3809919 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:12703192C>T ENST00000317615.6 + 1 739 PSMG2_ENST00000590217.1_Intron|PSMG2_ENST00000585331.2_Intron NM_020232.4 NP_064617.2 proteasome (prosome, macropain) assembly chaperone 2 NA NA lung(1)|prostate(2)|skin(1) 4 TCGGGGCTGCCGCCTCCCGAG 0.647 NA T||| 1528 0.305112 0.2882 0.2867 5008 , , NA 14982 0.3046 NA 0.4334 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 T , 1513,2873 263,987,943 15 14 14 , -4.6 0 18 dbSNP_107 14 3879,4709 922,2035,1337 no intron,intron PSMG2 NM_020232.4,NM_147163.1 , 1185,3022,2280 TT,TC,CC 45.1677,34.4961,41.56 , , 12703192 5392,7582 2193 4294 6487 SO:0001627 intron_variant AF276707 CCDS11862.1, CCDS67440.1 18p11.21 2012-01-25 2007-10-23 2007-10-23 ENSG00000128789 ENSG00000128789 56984 24929 protein-coding gene gene with protein product hepatocellular carcinoma susceptibility protein, CD40 ligand-activated specific transcript 3 609702 tumor necrosis factor superfamily, member 5-induced protein 1 TNFSF5IP1 NA 11854909, 12147697, 17189198 Standard NM_020232 NM_147163 NA Approved HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2 uc002krk.3 Q969U7 OTTHUMG00000131703 ENST00000317615.6:c.57+29C>T chr18.hg19:g.12703192C>T NA hg19 CCDS11862.1 0.02 11.562486 TGCxGCC COVERED NOVEL PSMG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254615.1 1 38.053482 KEEP 0 1 30 137 4596 CC 1 1 0 + 18 60 650 0 0 44.854987 253 60 8631 520 ENST00000317615.6 0.066421 1 PSMG2 56984 __UNKNOWN__ __UNKNOWN__ 18 12718593 12718593 __UNKNOWN__ Silent SNP A A G rs2302768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:12718593A>G ENST00000317615.6 + 4 1048 c.366A>G c.(364-366)tcA>tcG p.S122S PSMG2_ENST00000590217.1_Silent_p.S122S|PSMG2_ENST00000585331.2_Silent_p.S91S NM_020232.4 NP_064617.2 proteasome (prosome, macropain) assembly chaperone 2 NA NA lung(1)|prostate(2)|skin(1) 4 TTGTTCTTTCAAGCAGTCATT 0.383 NA G||| 1469 0.293331 0.2466 0.281 5008 , , NA 16839 0.3046 NA 0.4324 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 G , 1337,3069 693.3+/-405.7 193,951,1059 146 135 139 366,273 -10.9 0 18 dbSNP_100 139 3853,4747 609.1+/-395.5 874,2105,1321 yes coding-synonymous,coding-synonymous PSMG2 NM_020232.4,NM_147163.1 , 1067,3056,2380 GG,GA,AA 44.8023,30.345,39.9047 , 122/265,91/234 12718593 5190,7816 2203 4300 6503 SO:0001819 synonymous_variant AF276707 CCDS11862.1, CCDS67440.1 18p11.21 2012-01-25 2007-10-23 2007-10-23 ENSG00000128789 ENSG00000128789 56984 24929 protein-coding gene gene with protein product hepatocellular carcinoma susceptibility protein, CD40 ligand-activated specific transcript 3 609702 tumor necrosis factor superfamily, member 5-induced protein 1 TNFSF5IP1 NA 11854909, 12147697, 17189198 Standard NM_020232 NM_147163 NA Approved HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2 uc002krk.3 Q969U7 OTTHUMG00000131703 ENST00000317615.6:c.366A>G chr18.hg19:g.12718593A>G NA hg19 CCDS11862.1 0.02 6.635259 TTCxAGC COVERED NOVEL PSMG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254615.1 1 15.64686 KEEP 0 0 0 52 1612 AA 1 1 0 + 7 60 258 0 0 16.036068 189 60 6980 313 ENST00000317615.6 0.035714 1 PTPN2 5771 __UNKNOWN__ __UNKNOWN__ 18 12883939 12883939 __UNKNOWN__ Intron SNP A A C rs9961931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:12883939A>C ENST00000591115.1 - 1 142 PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000309660.5_Intron NM_001207013.1 NP_001193942.1 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 NA NA B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886) integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) CCTGACGCGGACCGCGCCGCC 0.622 NA C||| 1251 0.2498 0.5772 0.1196 5008 , , NA 7215 0.1389 NA 0.1392 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M25393 CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1 18p11.3-p11.2 2011-06-09 ENSG00000175354 ENSG00000175354 5771 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9650 protein-coding gene gene with protein product 176887 PTPT NA 2164224 Standard NM_002828, NM_080422, NM_080423 NM_002828 NA Approved TCELLPTP, TC-PTP, TCPTP uc002krp.3 P17706 OTTHUMG00000131702 ENST00000591115.1:c.69+132T>G chr18.hg19:g.12883939A>C NA A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2 hg19 CCDS59306.1 0.02 -0.324552 CGGxCCG COVERED NOVEL PTPN2-004 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000457481.1 3 5.715694 KEEP 0 0 0 19 576 AA 0.99986 0.835599 0 - 4 60 151 0 0 11.50522 33 60 1106 67 ENST00000591115.1 0.108108 0.835716 SEH1L 81929 __UNKNOWN__ __UNKNOWN__ 18 12984271 12984271 __UNKNOWN__ Intron SNP G G A rs62095825 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:12984271G>A ENST00000262124.11 + 8 1197 SEH1L_ENST00000592582.1_Intron|SEH1L_ENST00000399892.2_Intron NM_031216.3 NP_112493.2 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) NA NA attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 ATTATTTCATGGATTATAAGA 0.353 NA G||| 388 0.077476 0.0363 0.085 5008 , , NA 20784 0.1786 NA 0.0368 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G , 94,1658 3,88,785 80 77 78 , 2.5 0 18 dbSNP_129 78 180,3802 4,172,1815 no intron,intron SEH1L NM_001013437.1,NM_031216.3 , 7,260,2600 AA,AG,GG 4.5203,5.3653,4.7785 , , 12984271 274,5460 876 1991 2867 SO:0001627 intron_variant BC012430 CCDS32791.1, CCDS45832.1 18p11.21 2013-01-10 ENSG00000085415 81929 WD repeat domain containing 30379 protein-coding gene gene with protein product sec13 like protein, nucleoporin Seh1 609263 NA 12196509, 14517296 Standard NM_031216 XM_005258152 NA Approved SEH1A, SEH1B, Seh1, SEC13L uc002krq.3 Q96EE3 ENST00000262124.11:c.1070+82G>A chr18.hg19:g.12984271G>A NA A8K5B1|Q8NFU6|Q96MH3|Q9C069 hg19 CCDS45832.1 0.02 4.566317 CATxGAT COVERED NOVEL SEH1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458254.1 0 5.11596 KEEP 0 0 0 17 565 GG 0.999366 0.999363 0 + 6 60 224 0 0 15.034319 109 60 3880 141 ENST00000262124.11 0.052174 0.999997 CEP192 55125 __UNKNOWN__ __UNKNOWN__ 18 13001512 13001512 __UNKNOWN__ Missense_Mutation SNP G G C rs4499304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13001512G>C ENST00000506447.1 + 3 301 c.221G>C c.(220-222)gGg>gCg p.G74A CEP192_ENST00000325971.8_5'UTR NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa 0 NA centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) p.G74A(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTTCCATCCGGGTCATCTCCC 0.383 NA G||| 2157 0.430711 0.528 0.4798 5008 , , NA 17422 0.3552 NA 0.4493 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 1 Substitution - Missense(1) stomach(1) 150 130 136 NA NA 18 NA 13001512 692 1591 2283 SO:0001583 missense AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 25515 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 62 NA 11230166, 14654843 Standard NM_032142 NM_032142 NA Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.221G>C chr18.hg19:g.13001512G>C ENSP00000427550:p.Gly74Ala NA A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 hg19 CCDS32792.2 0.02 2.162797 CCGxGTC COVERED 1013 0.46382783882783885 264 0.5365853658536586 174 0.48066298342541436 237 0.4143356643356643 338 0.44591029023746703 G 0.005 -2.151523 0.00325 . . ENSG00000101639 ENST00000506447 T 0.05025 3.51 4.76 -0.604 0.11626 . . . . . T 0.00012 0.0000 N 0.03608 -0.345 0.53688 P 2.6999999999999247E-5 B 0.06786 0.001 B 0.04013 0.001 T 0.40421 -0.9564 8 0.02654 T 1 . 5.6865 0.17805 0.2963:0.5058:0.1979:0.0 rs4499304;rs17659973;rs4499304 74 E9PF99 . A 74 ENSP00000427550:G74A ENSP00000427550:G74A G + 2 0 CEP192 12991512 0.005000 0.15991 0.005000 0.12908 0.258000 0.26162 0.032000 0.13732 -0.105000 0.12132 0.205000 0.17691 GGG NOVEL CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361790.1 0 5.116372 KEEP 0 0 0 17 587 GG 0.999366 0.999274 0 + 7 60 264 0 0 18.922217 87 60 3180 133 ENST00000506447.1 0.074468 0.999907 CEP192 55125 __UNKNOWN__ __UNKNOWN__ 18 13038431 13038431 __UNKNOWN__ Silent SNP A A G rs16940057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13038431A>G ENST00000506447.1 + 13 1742 c.1662A>G c.(1660-1662)acA>acG p.T554T CEP192_ENST00000430049.2_Intron|CEP192_ENST00000325971.8_Intron NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa 0 NA centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GGGGAGCTACAATTAATTACA 0.413 NA A||| 316 0.063099 0.0371 0.0331 5008 , , NA 19411 0.1528 NA 0.0318 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 A 63,1321 5,53,634 240 195 208 1662 2.5 0 18 dbSNP_123 208 117,3065 2,113,1476 yes coding-synonymous CEP192 NM_032142.3 7,166,2110 GG,GA,AA 3.6769,4.552,3.9422 554/2538 13038431 180,4386 692 1591 2283 SO:0001819 synonymous_variant AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 25515 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 62 NA 11230166, 14654843 Standard NM_032142 NM_032142 NA Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.1662A>G chr18.hg19:g.13038431A>G NA A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 hg19 CCDS32792.2 0.02 11.335342 TACxATT COVERED NOVEL CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361790.1 3 15.646087 KEEP 0 0 0 52 1615 AA 1 1 0 + 10 60 367 0 0 22.842846 264 60 9718 405 ENST00000506447.1 0.036496 1 CEP192 55125 __UNKNOWN__ __UNKNOWN__ 18 13059326 13059326 __UNKNOWN__ Intron SNP A A G rs16940075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13059326A>G ENST00000506447.1 + 21 4568 CEP192_ENST00000430049.2_Intron|CEP192_ENST00000325971.8_Intron NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa NA NA centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTGTTTGAAAATGAATCTTTG 0.423 NA A||| 316 0.063099 0.0371 0.0331 5008 , , NA 17623 0.1528 NA 0.0318 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 A 211,4195 123.7+/-161.0 9,193,2001 92 86 88 -3.9 0 18 dbSNP_123 88 338,8262 110.8+/-171.2 5,328,3967 no intron CEP192 NM_032142.3 14,521,5968 GG,GA,AA 3.9302,4.7889,4.2211 13059326 549,12457 2203 4300 6503 SO:0001627 intron_variant AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 25515 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 62 NA 11230166, 14654843 Standard NM_032142 NM_032142 NA Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.4488+15A>G chr18.hg19:g.13059326A>G NA A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 hg19 CCDS32792.2 0.02 12.445759 AAAxTGA COVERED NOVEL CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361790.1 1 17.15189 KEEP 0 0 0 57 1807 AA 1 1 0 + 11 60 432 0 0 28.240287 273 60 10024 407 ENST00000506447.1 0.038732 1 CEP192 55125 __UNKNOWN__ __UNKNOWN__ 18 13069221 13069221 __UNKNOWN__ Intron SNP C C T rs3809910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13069221C>T ENST00000506447.1 + 26 5135 CEP192_ENST00000430049.2_Intron|CEP192_ENST00000325971.8_Intron NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa NA NA centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGTCTTTCCTCAGACTGTGAG 0.438 NA C||| 345 0.0688898 0.0582 0.0331 5008 , , NA 20327 0.1528 NA 0.0328 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 C 298,4108 150.7+/-184.7 15,268,1920 32 34 34 -3.6 0 18 dbSNP_107 34 339,8261 112.3+/-172.5 4,331,3965 no intron CEP192 NM_032142.3 19,599,5885 TT,TC,CC 3.9419,6.7635,4.8977 13069221 637,12369 2203 4300 6503 SO:0001627 intron_variant AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 25515 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 62 NA 11230166, 14654843 Standard NM_032142 NM_032142 NA Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.5055+41C>T chr18.hg19:g.13069221C>T NA A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 hg19 CCDS32792.2 0.02 6.034776 CCTxAGA COVERED NOVEL CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361790.1 0 7.223138 KEEP 0 0 0 24 839 CC 0.999909 0.999909 0 + 6 60 208 0 0 12.50953 157 60 6010 206 ENST00000506447.1 0.03681 1 CEP192 55125 __UNKNOWN__ __UNKNOWN__ 18 13114046 13114046 __UNKNOWN__ Intron SNP A A G rs544278540|rs2298595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13114046A>G ENST00000506447.1 + 42 7247 CEP192_ENST00000430049.2_Intron|CEP192_ENST00000325971.8_Intron|CEP192_ENST00000540847.2_Intron NM_032142.3 NP_115518.3 Q8TEP8 CE192_HUMAN centrosomal protein 192kDa NA NA centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phosphatase binding (GO:0019902) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTTAAAGGAAATGATAGAATT 0.328 NA 320 0.0638978 0.0371 0.0331 5008 , , NA 16919 0.1538 NA 0.0338 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK074074 CCDS32792.1, CCDS32792.2 18p11.21 2014-02-20 ENSG00000101639 55125 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 25515 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 62 NA 11230166, 14654843 Standard NM_032142 NM_032142 NA Approved KIAA1569, FLJ10352, PPP1R62 uc010xac.2 Q8TEP8 ENST00000506447.1:c.7168-83A>G chr18.hg19:g.13114046A>G NA A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27 hg19 CCDS32792.2 0.02 3.878123 GAAxTGA COVERED NOVEL CEP192-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000361790.1 0 6.617218 KEEP 0 0 0 22 667 AA 0.999879 0.999879 0 + 5 60 186 0 0 11.499561 143 60 5007 171 ENST00000506447.1 0.033784 1 FAM210A 125228 __UNKNOWN__ __UNKNOWN__ 18 13666768 13666768 __UNKNOWN__ Intron SNP A A G rs1149356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13666768A>G ENST00000322247.3 - 5 973 FAM210A_ENST00000588475.1_Intron|FAM210A_ENST00000402563.1_Intron NM_001098801.1 NP_001092271.1 Q96ND0 F210A_HUMAN family with sequence similarity 210, member A NA NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739) NA TGTCATCTTAAGCAAAAACAA 0.343 NA A||| 3117 0.622404 0.5386 0.6412 5008 , , NA 20953 0.88 NA 0.5139 False NA ,,, NA NA NA 2504 0.5685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK055618 CCDS11866.1 18p11.21 2011-11-24 2011-11-24 2011-11-24 ENSG00000177150 ENSG00000177150 125228 28346 protein-coding gene gene with protein product chromosome 18 open reading frame 19 C18orf19 NA 14702039 Standard NM_152352 NM_152352 NA Approved MGC24180, HsT2329 uc010dli.3 Q96ND0 OTTHUMG00000131719 ENST00000322247.3:c.586-56T>C chr18.hg19:g.13666768A>G NA D3DUJ4 hg19 CCDS11866.1 0.02 7.303929 TTAxGCA COVERED NOVEL FAM210A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254637.1 2 3.846175 KEEP 0 1 32 24 756 AA 0.999931 0.999931 0 - 8 60 295 0 0 18.93743 181 60 6717 241 ENST00000322247.3 0.042328 1 RNMT 8731 __UNKNOWN__ __UNKNOWN__ 18 13764016 13764016 __UNKNOWN__ 3'UTR SNP A A T rs1043925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13764016A>T ENST00000383314.2 + 0 5709 RNMT_ENST00000591922.1_Intron|RNMT_ENST00000262173.3_3'UTR|RNMT_ENST00000592764.1_3'UTR O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase NA NA 7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235) mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 TTGGTAGACCACCTTCTTTAG 0.498 NA T||| 3377 0.674321 0.7163 0.6801 5008 , , NA 19958 0.879 NA 0.5129 False NA ,,, NA NA NA 2504 0.5685 NA NA NA GBM(29;474 594 19092 36647 41529) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF067791 CCDS11867.1 18p11.21 2008-05-14 ENSG00000101654 ENSG00000101654 8731 2.1.1.56 10075 protein-coding gene gene with protein product 603514 NA 9828141, 9705270 Standard NM_003799 NM_003799 NA Approved RG7MT1 uc002ksl.1 O43148 OTTHUMG00000131718 ENST00000383314.2:c.*4038A>T chr18.hg19:g.13764016A>T NA B0YJ90|D3DUJ5|O94996|Q9UIJ9 hg19 CCDS11867.1 0.02 9.166262 ACCxCCT COVERED NOVEL RNMT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254636.1 1 7.353068 KEEP 0 1 33 36 1072 AA 1 1 0 + 8 60 298 0 0 18.265085 241 60 8633 353 ENST00000383314.2 0.032129 1 MC5R 4161 __UNKNOWN__ __UNKNOWN__ 18 13826391 13826391 __UNKNOWN__ Missense_Mutation SNP C C G rs2236700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13826391C>G ENST00000324750.3 + 1 849 c.627C>G c.(625-627)ttC>ttG p.F209L NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 209 NA F -> L (in dbSNP:rs2236700). {ECO:0000269|PubMed:11286624, ECO:0000269|PubMed:15489334}. G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TACACATGTTCCTCCTGGCGC 0.597 NA C||| 1329 0.265375 0.3154 0.3573 5008 , , NA 21468 0.3433 NA 0.172 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 C LEU/PHE 1304,3102 440.0+/-345.9 207,890,1106 448 375 400 627 3.2 1 18 dbSNP_98 400 1537,7063 289.4+/-299.3 138,1261,2901 yes missense MC5R NM_005913.2 22 345,2151,4007 GG,GC,CC 17.8721,29.596,21.8438 probably-damaging 209/326 13826391 2841,10165 2203 4300 6503 SO:0001583 missense AY268429 CCDS11868.1 18p11.2 2012-08-10 ENSG00000176136 ENSG00000176136 4161 GPCR / Class A : Melanocortin receptors 6933 protein-coding gene gene with protein product 600042 NA 8396929 Standard NM_005913 NM_005913 NA Approved uc010xaf.2 P33032 OTTHUMG00000131720 ENST00000324750.3:c.627C>G chr18.hg19:g.13826391C>G ENSP00000318077:p.Phe209Leu NA B0YJ34|Q502V1 hg19 CCDS11868.1 0.02 30.961917 GTTxCTC COVERED 593 0.2715201465201465 142 0.2886178861788618 108 0.2983425414364641 214 0.3741258741258741 129 0.17018469656992086 C 18.97 3.736421 0.69189 0.29596 0.178721 ENSG00000176136 ENST00000324750 T 0.34667 1.35 5.01 3.18 0.36537 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.80746 2.51 0.09310 P 0.99999841368 D 0.89917 1.0 D 0.83275 0.996 T 0.41770 -0.9490 9 0.12766 T 0.61 . 10.5883 0.45296 0.0:0.8386:0.0:0.1614 rs2236700;rs17848293;rs2236700 209 P33032 MC5R_HUMAN L 209 ENSP00000318077:F209L ENSP00000318077:F209L F + 3 2 MC5R 13816391 1.000000 0.71417 1.000000 0.80357 0.925000 0.55904 1.790000 0.38734 1.086000 0.41228 0.455000 0.32223 TTC NOVEL MC5R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254638.1 2 28.494454 KEEP 0 3 113 134 4667 CC 1 1 0 + 17 60 672 0 0 40.91063 653 60 24207 984 ENST00000324750.3 0.025373 1 MC5R 4161 __UNKNOWN__ __UNKNOWN__ 18 13826508 13826508 __UNKNOWN__ Silent SNP C C T rs2236701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:13826508C>T ENST00000324750.3 + 1 966 c.744C>T c.(742-744)acC>acT p.T248T NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 248 NA G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 GCGTGTTTACCGTGTGCTGGG 0.587 NA C||| 1324 0.264377 0.3109 0.3573 5008 , , NA 20387 0.3433 NA 0.173 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 C 1258,3148 430.6+/-342.6 192,874,1137 219 172 188 744 -0.9 0.7 18 dbSNP_98 188 1536,7064 288.9+/-299.0 139,1258,2903 no coding-synonymous MC5R NM_005913.2 331,2132,4040 TT,TC,CC 17.8605,28.552,21.4824 248/326 13826508 2794,10212 2203 4300 6503 SO:0001819 synonymous_variant AY268429 CCDS11868.1 18p11.2 2012-08-10 ENSG00000176136 ENSG00000176136 4161 GPCR / Class A : Melanocortin receptors 6933 protein-coding gene gene with protein product 600042 NA 8396929 Standard NM_005913 NM_005913 NA Approved uc010xaf.2 P33032 OTTHUMG00000131720 ENST00000324750.3:c.744C>T chr18.hg19:g.13826508C>T NA B0YJ34|Q502V1 hg19 CCDS11868.1 0.02 18.064784 TACxGTG COVERED NOVEL MC5R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254638.1 2 19.088989 KEEP 0 2 58 84 2713 CC 1 1 0 + 13 60 499 0 0 30.554668 436 60 15173 628 ENST00000324750.3 0.028953 1 ZNF519 162655 __UNKNOWN__ __UNKNOWN__ 18 14106039 14106039 __UNKNOWN__ Intron SNP T T C rs62086326 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:14106039T>C ENST00000589498.1 - 3 281 ZNF519_ENST00000590202.1_Missense_Mutation_p.N167S|ZNF519_ENST00000589203.1_Intron Q8TB69 ZN519_HUMAN zinc finger protein 519 NA NA negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 18 TTTACTAATATTTGAGTCATG 0.259 NA T||| 967 0.193091 0.0136 0.281 5008 , , NA 17985 0.2381 NA 0.2525 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 T SER/ASN 213,4087 9,195,1946 24 26 25 500 0.3 0 18 dbSNP_129 25 2065,6437 285,1495,2471 yes missense ZNF519 NM_145287.3 46 294,1690,4417 CC,CT,TT 24.2884,4.9535,17.7941 benign 167/541 14106039 2278,10524 2150 4251 6401 SO:0001627 intron_variant BC024227 CCDS32797.1 18p11.21 2014-06-18 ENSG00000175322 ENSG00000175322 162655 Zinc fingers, C2H2-type, - 30574 protein-coding gene gene with protein product similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1) NA 12477932 Standard NM_145287 NM_145287 NA Approved HsT2362, FLJ36809 uc002kst.2 Q8TB69 OTTHUMG00000182055 ENST00000589498.1:c.131-4267A>G chr18.hg19:g.14106039T>C NA hg19 0.02 4.53706 ATAxTTG COVERED 450 0.20604395604395603 12 0.024390243902439025 103 0.2845303867403315 142 0.24825174825174826 193 0.2546174142480211 T 0.005 -2.137334 0.00335 0.049535 0.242884 ENSG00000175322 ENST00000309305 . . . 0.328 0.328 0.15918 . . . . . T 0.00012 0.0000 N 0.05199 -0.095 0.80722 P 0.0 B 0.30526 0.283 B 0.29176 0.099 T 0.38436 -0.9661 7 0.08381 T 0.77 . 5.0724 0.14613 0.0:2.0E-4:0.0:0.9998 rs62086326 167 Q8TB69 ZN519_HUMAN S 167 . ENSP00000307908:N167S N - 2 0 ZNF519 14096039 0.000000 0.05858 0.010000 0.14722 0.252000 0.25951 -1.143000 0.03200 0.367000 0.24454 0.076000 0.15429 AAT NOVEL ZNF519-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000459035.1 0 2.707624 KEEP 0 0 0 9 282 TT 0.99254 0.992529 0 - 7 60 265 0 0 18.615399 100 60 3556 125 ENST00000589498.1 0.065421 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 14477740 14477740 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:14477740G>A NA NA CYP4F35P (135217 upstream) : CXADRP3 (213 downstream) NA NA NA GGGGGAGACTGGTGGGCCATA 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.14477740G>A NA hg19 0.02 23.254382 ACTxGTG COVERED NOVEL 0 6 6.290337 KEEP 42 2 63 43 1518 GG 1 1 0 16 27 563 0 0 31.601652 612 60 22906 878 0.025478 1 CXADRP3 440224 __UNKNOWN__ __UNKNOWN__ 18 14478958 14478958 __UNKNOWN__ lincRNA SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:14478958T>A ENST00000581457.1 - 0 950 NR_024076.1 coxsackie virus and adenovirus receptor pseudogene 3 NA NA NA CATTTATTGATGCATCACCAG 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 18p11.21 2013-09-19 ENSG00000265766 ENSG00000265766 440224 33974 pseudogene pseudogene NA Standard NR_024076 NR_024076 NA Approved uc010xai.2 OTTHUMG00000178700 ENST00000581457.1: chr18.hg19:g.14478958T>A NA hg19 0.02 1.836819 TGAxGCA COVERED NOVEL CXADRP3-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000443008.1 3 3.008423 KEEP 0 0 0 10 298 TT 0.992708 0.992648 0 - 6 42 213 0 0 14.447297 89 60 3282 114 ENST00000581457.1 0.063158 0.99994 POTEC 388468 __UNKNOWN__ __UNKNOWN__ 18 14542931 14542931 __UNKNOWN__ Missense_Mutation SNP C C T rs45554841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:14542931C>T ENST00000358970.5 - 1 214 c.215G>A c.(214-216)tGc>tAc p.C72Y POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 72 NA C -> Y (in dbSNP:rs45554841). p.C72Y(1) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GCTCCCCCTGCAGCAGGGGAA 0.567 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) kidney(1) 46 57 53 NA NA 18 NA 14542931 692 1591 2283 SO:0001583 missense BX649118 CCDS45835.1 18p11.21 2013-01-10 2008-11-26 2008-11-26 ENSG00000183206 ENSG00000183206 388468 POTE ankyrin domain containing, Ankyrin repeat domain containing 33894 protein-coding gene gene with protein product cancer/testis antigen family 104, member 6 ANKRD26-like family B, member 2 A26B2 NA Standard XM_496269 NM_001137671 NA Approved POTE18, POTE-18, DKFZp686J0529, CT104.6 uc010dln.3 B2RU33 OTTHUMG00000162963 ENST00000358970.5:c.215G>A chr18.hg19:g.14542931C>T ENSP00000351856:p.Cys72Tyr NA hg19 CCDS45835.1 0.02 7.837974 CTGxAGC COVERED 314 0.14377289377289376 36 0.07317073170731707 62 0.1712707182320442 149 0.26048951048951047 67 0.08839050131926121 C 10.16 1.272916 0.23221 . . ENSG00000183206 ENST00000358970;ENST00000389891 T 0.39592 1.07 0.429 0.429 0.16506 . . . . . T 0.00012 0.0000 L 0.46157 1.445 0.80722 P 0.0 D 0.63046 0.992 D 0.74023 0.982 T 0.14172 -1.0482 7 0.87932 D 0 . . . . rs45554841;rs60359173 72 B2RU33 POTEC_HUMAN Y 72 ENSP00000351856:C72Y ENSP00000351856:C72Y C - 2 0 POTEC 14532931 0.007000 0.16637 0.005000 0.12908 0.090000 0.18270 -0.364000 0.07583 0.472000 0.27344 0.175000 0.17021 TGC NOVEL POTEC-002 KNOWN not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371179.1 1 3.546112 KEEP 0 1 29 22 799 CC 0.999892 0.999892 0 - 8 60 282 0 0 17.315837 199 60 7573 276 ENST00000358970.5 0.038647 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15204836 15204836 __UNKNOWN__ IGR SNP T T A rs193051648 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:15204836T>A NA NA RP11-454P7.3 (7108 upstream) : AP005901.1 (108718 downstream) NA NA NA caggctggagtgcagtggcac 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15204836T>A NA hg19 0.02 -0.122799 GAGxGCA COVERED NOVEL 0 4 3.006364 KEEP 0 0 0 10 289 TT 0.992708 0.19488 0 2 25 73 0 0 6.300812 6 60 200 35 0.25 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15254367 15254367 __UNKNOWN__ IGR SNP T T C rs60550622 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:15254367T>C NA NA RP11-454P7.3 (56639 upstream) : AP005901.1 (59187 downstream) NA NA NA CTTGAGTCAATTTAAGAATTC 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15254367T>C NA hg19 0.02 -0.394793 CAAxTTA COVERED NOVEL 0 1 3.008534 KEEP 0 0 0 10 298 TT 0.992708 0.919883 0 3 24 116 0 0 8.275706 41 60 1509 60 0.068182 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15270908 15270908 __UNKNOWN__ IGR SNP G G T rs375129951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:15270908G>T NA NA RP11-454P7.3 (73180 upstream) : AP005901.1 (42646 downstream) NA NA NA GAAGAATGTGGCAAAGCTTTT 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15270908G>T NA hg19 0.02 -0.315835 GTGxCAA UNCOVERED NOVEL 0 7 4.514946 KEEP 22 0 0 15 549 GG 0 0 0 3 23 101 0 0 7.252301 28 48 1039 71 0.096774 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15270949 15270949 __UNKNOWN__ IGR SNP A A C rs372826084 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:15270949A>C NA NA RP11-454P7.3 (73221 upstream) : AP005901.1 (42605 downstream) NA NA NA TCAACATAACATAGTTCATAC 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15270949A>C NA hg19 0.02 -0.403535 AACxTAG UNCOVERED NOVEL 0 2 2.707998 KEEP 16 0 0 9 276 AA 0 0 0 5 24 166 0 0 12.385849 36 50 1297 73 0.121951 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15307966 15307966 __UNKNOWN__ IGR SNP G G C rs76892102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:15307966G>C NA NA RP11-454P7.3 (110238 upstream) : AP005901.1 (5588 downstream) NA NA NA CAAGGGTGCAGCTTCATGTTG 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15307966G>C NA hg19 0.02 2.317632 GCAxCTT COVERED NOVEL 0 1 2.407832 KEEP 2 0 0 8 284 GG 0.99257 0.98632 0 7 60 252 0 0 18.949598 57 60 2106 83 0.109375 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 15349919 15349919 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:15349919G>A NA NA AP005901.1 (19657 upstream) : None (None downstream) NA NA NA AATGGggccgggcatggtggc 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.15349919G>A NA hg19 0.02 -0.05264 CCGxGCA UNCOVERED NOVEL 0 5 3.912595 KEEP 0 0 0 13 455 GG 0.994391 0.036559 0 2 60 74 0 0 6.69564 4 48 150 23 0.333333 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 18517188 18517188 __UNKNOWN__ IGR SNP T T A rs138847094 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:18517188T>A NA NA None (None upstream) : ROCK1 (9678 downstream) NA NA NA ctttgacgcctttggtgaaaa 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.18517188T>A NA hg19 0.02 6.022502 GCCxTTG COVERED NOVEL 0 144 46.978897 KEEP 66 1 31 167 5393 TT 1 1 0 4 60 144 1 0 13.408848 6 49 187 1025 0.4 1 ROCK1 6093 __UNKNOWN__ __UNKNOWN__ 18 18529719 18529719 __UNKNOWN__ 3'UTR SNP C C T rs201406338 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:18529719C>T ENST00000399799.2 - 0 6631 NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 NA NA actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TTTAAAAATACACTTTAATCT 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11870.2 18q11.2 2013-01-10 ENSG00000067900 ENSG00000067900 6093 2.7.11.1 Pleckstrin homology (PH) domain containing 10251 protein-coding gene gene with protein product 601702 NA 8617235 Standard NM_005406 NM_005406 NA Approved p160ROCK uc002kte.3 Q13464 OTTHUMG00000131723 ENST00000399799.2:c.*1626G>A chr18.hg19:g.18529719C>T NA B0YJ91|Q2KHM4|Q59GZ4 hg19 CCDS11870.2 0.02 6.244432 ATAxACT COVERED NOVEL ROCK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254641.2 2 5.717759 KEEP 2 0 0 19 643 CC 0.99986 0.99986 0 - 16 40 551 0 0 38.679839 180 50 6584 229 ENST00000399799.2 0.081633 1 ESCO1 114799 __UNKNOWN__ __UNKNOWN__ 18 19154752 19154752 __UNKNOWN__ Missense_Mutation SNP T T C rs185403786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:19154752T>C ENST00000269214.5 - 4 990 c.53A>G c.(52-54)aAa>aGa p.K18R NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 18 NA mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062) chromatin (GO:0000785)|nucleoplasm (GO:0005654) metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746) breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 ATCGTCACTTTTTTTAGTAAC 0.328 NA T||| 4 0.000798722 0.0 0.0 5008 , , NA 17517 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 81 78 79 NA NA 18 NA 19154752 2203 4299 6502 SO:0001583 missense AL832041 CCDS32800.1 18q11.2 2013-05-02 2013-05-02 ENSG00000141446 ENSG00000141446 114799 24645 protein-coding gene gene with protein product 609674 establishment of cohesion 1 homolog 1 (S. cerevisiae) NA 11572484, 14576321, 15958495 Standard NM_052911 NM_052911 NA Approved ESO1, EFO1, KIAA1911 uc002kth.1 Q5FWF5 ENST00000269214.5:c.53A>G chr18.hg19:g.19154752T>C ENSP00000269214:p.Lys18Arg NA B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7 hg19 CCDS32800.1 0.02 4.576409 CTTxTTT COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 T 11.87 1.767902 0.31320 . . ENSG00000141446 ENST00000269214;ENST00000383276 T;T 0.59502 0.26;1.82 5.63 3.18 0.36537 . 0.186548 0.39146 N 0.001451 T 0.44138 0.1279 L 0.56769 1.78 0.22562 N 0.998983 P 0.38922 0.651 B 0.30495 0.116 T 0.36962 -0.9726 10 0.30078 T 0.28 -20.6905 7.7296 0.28779 0.1934:0.0:0.1174:0.6892 . 18 Q5FWF5 ESCO1_HUMAN R 18 ENSP00000269214:K18R;ENSP00000372763:K18R ENSP00000269214:K18R K - 2 0 ESCO1 17408750 0.224000 0.23674 1.000000 0.80357 0.968000 0.65278 1.250000 0.32850 2.263000 0.75096 0.533000 0.62120 AAA NOVEL ESCO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000443942.1 0 7.823643 KEEP 0 0 0 26 834 TT 0.999957 0.999957 0 - 9 60 338 0 1 23.39679 138 60 4935 190 ENST00000269214.5 0.061224 1 CABLES1 91768 __UNKNOWN__ __UNKNOWN__ 18 20833089 20833089 __UNKNOWN__ Intron SNP G G A rs111634433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:20833089G>A ENST00000256925.7 + 8 1553 CABLES1_ENST00000400473.2_Intron|CABLES1_ENST00000420687.2_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 NA NA blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302) cytosol (GO:0005829)|nucleus (GO:0005634) cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538) breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCCACACACCGTAAGCTTGTC 0.517 NA G||| 167 0.0333466 0.062 0.0403 5008 , , NA 21261 0.0317 NA 0.0 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC037218 CCDS42417.1, CCDS42418.1, CCDS58615.1 18q11.2 2005-08-16 ENSG00000134508 91768 25097 protein-coding gene gene with protein product 609194 NA 12477932 Standard NM_138375 NM_138375 NA Approved HsT2563, FLJ35924 uc002kuc.2 Q8TDN4 ENST00000256925.7:c.1553+59G>A chr18.hg19:g.20833089G>A NA B4DK60|Q8N3Y8|Q8NA22|Q9BTG1 hg19 CCDS42417.1 0.02 1.945818 ACCxTAA COVERED NOVEL CABLES1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000445198.2 1 3.009572 KEEP 0 0 0 10 336 GG 0.992708 0.992638 0 + 4 60 151 0 0 9.7903 92 60 3318 108 ENST00000256925.7 0.041667 0.99993 LAMA3 3909 __UNKNOWN__ __UNKNOWN__ 18 21395358 21395358 __UNKNOWN__ Intron SNP G G C rs2155841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:21395358G>C ENST00000313654.9 + 17 2182 LAMA3_ENST00000399516.3_Intron NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 NA NA cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) ATACAGTGAGGCAGTTTTCAA 0.438 NA C||| 4129 0.824481 0.9849 0.8098 5008 , , NA 21834 0.8065 NA 0.7286 False NA ,,, NA NA NA 2504 0.7352 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909 Laminins 6483 protein-coding gene gene with protein product 600805 laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) LAMNA NA 8077230 Standard NM_000227, NM_198129 NM_000227 NA Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.1942-74G>C chr18.hg19:g.21395358G>C NA B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 hg19 CCDS42419.1 0.02 5.959056 GAGxCAG COVERED NOVEL LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254824.3 2 10.534012 KEEP 0 0 0 35 1251 GG 0.999999 0.999999 0 + 9 60 311 0 0 19.820533 174 60 6315 234 ENST00000313654.9 0.04918 1 LAMA3 3909 __UNKNOWN__ __UNKNOWN__ 18 21404334 21404334 __UNKNOWN__ Intron SNP A A G rs1941521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:21404334A>G ENST00000313654.9 + 21 2669 LAMA3_ENST00000399516.3_Intron NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 NA NA cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) ATCTAAAATCATAACACTGAC 0.333 NA A||| 3608 0.720447 0.6604 0.7839 5008 , , NA 18953 0.8065 NA 0.7306 False NA ,,, NA NA NA 2504 0.6575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909 Laminins 6483 protein-coding gene gene with protein product 600805 laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) LAMNA NA 8077230 Standard NM_000227, NM_198129 NM_000227 NA Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.2429-53A>G chr18.hg19:g.21404334A>G NA B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 hg19 CCDS42419.1 0.02 6.268215 ATCxTAA COVERED NOVEL LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254824.3 0 13.841442 KEEP 0 0 0 46 1439 AA 1 1 0 + 7 60 242 0 0 14.668062 175 60 6420 267 ENST00000313654.9 0.038462 1 LAMA3 3909 __UNKNOWN__ __UNKNOWN__ 18 21437931 21437931 __UNKNOWN__ Silent SNP G G C rs867449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:21437931G>C ENST00000313654.9 + 33 4501 c.4260G>C c.(4258-4260)ggG>ggC p.G1420G LAMA3_ENST00000399516.3_Silent_p.G1420G NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1420 Domain III B.|Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}. NA cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610) structural molecule activity (GO:0005198) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) GTGACCCAGGGACCGGGGCTT 0.537 NA G||| 1721 0.34365 0.202 0.415 5008 , , NA 19662 0.1736 NA 0.6123 False NA ,,, NA NA NA 2504 0.3834 NA NA NA NA 0 G , 1217,2857 199,819,1019 101 101 101 4260,4260 1.5 0 18 dbSNP_86 101 5218,3148 1633,1952,598 no coding-synonymous,coding-synonymous LAMA3 NM_001127717.1,NM_198129.1 , 1832,2771,1617 CC,CG,GG 37.6285,29.8724,48.2717 , 1420/3278,1420/3334 21437931 6435,6005 2037 4183 6220 SO:0001819 synonymous_variant L34155 CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1 18q11.2 2013-03-01 2002-08-29 ENSG00000053747 ENSG00000053747 3909 Laminins 6483 protein-coding gene gene with protein product 600805 laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin) LAMNA NA 8077230 Standard NM_000227, NM_198129 NM_000227 NA Approved nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin uc002kuq.3 Q16787 OTTHUMG00000131874 ENST00000313654.9:c.4260G>C chr18.hg19:g.21437931G>C NA B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0 hg19 CCDS42419.1 0.02 11.51674 AGGxACC COVERED NOVEL LAMA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254824.3 1 11.724355 KEEP 0 0 0 39 1296 GG 1 1 0 + 9 60 346 0 0 21.676259 267 60 9846 359 ENST00000313654.9 0.032609 1 CABYR 26256 __UNKNOWN__ __UNKNOWN__ 18 21735686 21735686 __UNKNOWN__ Missense_Mutation SNP C C T rs3786417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:21735686C>T ENST00000399496.3 + 4 386 c.221C>T c.(220-222)aCg>aTg p.T74M CABYR_ENST00000399499.1_Missense_Mutation_p.T74M|CABYR_ENST00000415309.2_Missense_Mutation_p.T74M|CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000581397.1_Missense_Mutation_p.T74M NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 74 NA T -> M (in dbSNP:rs3786417). epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686) calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124) breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) TCAGAAGGAACGACACCACAG 0.333 NA C||| 126 0.0251597 0.0 0.0 5008 , , NA 21035 0.119 NA 0.003 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C MET/THR,,MET/THR,MET/THR,MET/THR,MET/THR 6,4400 11.4+/-27.6 0,6,2197 61 62 62 221,,221,167,221,221 -5.6 0 18 dbSNP_107 62 17,8583 12.6+/-44.7 0,17,4283 yes missense,utr-5,missense,missense,missense,missense CABYR NM_012189.2,NM_138643.1,NM_138644.1,NM_153768.1,NM_153769.1,NM_153770.1 81,,81,81,81,81 0,23,6480 TT,TC,CC 0.1977,0.1362,0.1768 probably-damaging,,probably-damaging,probably-damaging,probably-damaging,probably-damaging 74/494,,74/380,56/476,74/380,74/222 21735686 23,12983 2203 4300 6503 SO:0001583 missense AF088868 CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1 18q11.2 2009-08-06 2007-11-22 ENSG00000154040 ENSG00000154040 26256 15569 protein-coding gene gene with protein product fibrousheathin 2, cancer/testis antigen 88 612135 NA 11820818, 17317841, 16139264 Standard NM_153770 NM_012189 NA Approved FSP-2, CBP86, CT88 uc002kux.3 O75952 OTTHUMG00000037365 ENST00000399496.3:c.221C>T chr18.hg19:g.21735686C>T ENSP00000382419:p.Thr74Met NA B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9 hg19 CCDS42420.1 0.02 25.872937 GAAxGAC COVERED 69 0.03159340659340659 0 0.0 0 0.0 66 0.11538461538461539 3 0.00395778364116095 C 6.220 0.408821 0.11812 0.001362 0.001977 ENSG00000154040 ENST00000399496;ENST00000415309;ENST00000399499 T;T;T 0.46063 0.88;1.47;0.88 5.78 -5.64 0.02466 . 1.513000 0.03594 N 0.232273 T 0.00300 0.0009 L 0.27053 0.805 0.58432 P 1.0000000000287557E-6 B;B;B;P 0.34562 0.079;0.421;0.145;0.457 B;B;B;B 0.27715 0.011;0.082;0.016;0.026 T 0.04930 -1.0917 9 0.49607 T 0.09 15.4842 1.8919 0.03249 0.1127:0.2413:0.2226:0.4234 rs3786417;rs17259653;rs52805416;rs58057725;rs3786417 56;74;74;74 O75952-2;O75952-4;O75952-3;O75952 .;.;.;CABYR_HUMAN M 74 ENSP00000382419:T74M;ENSP00000399973:T74M;ENSP00000382421:T74M ENSP00000382419:T74M T + 2 0 CABYR 19989684 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.470000 0.02346 -0.840000 0.04206 -1.087000 0.02190 ACG NOVEL CABYR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000090926.2 5 23.510107 KEEP 0 1 28 88 3063 CC 1 1 0 + 18 60 651 0 0 38.485379 607 60 22030 877 ENST00000399496.3 0.0288 1 OSBPL1A 114876 __UNKNOWN__ __UNKNOWN__ 18 21742340 21742340 __UNKNOWN__ 3'UTR SNP G G C rs73406188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:21742340G>C ENST00000319481.3 - 0 3862 OSBPL1A_ENST00000399443.3_3'UTR NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTGCCACTGGAAGTGGAAGC 0.338 NA G||| 510 0.101837 0.059 0.0346 5008 , , NA 18836 0.3026 NA 0.0189 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF392449, AF274714 CCDS11884.1, CCDS11885.1, CCDS56056.1 18q11.2 2014-06-03 2014-06-03 2014-06-03 ENSG00000141447 ENSG00000141447 114876 Oxysterol binding proteins, Ankyrin repeat domain containing 16398 protein-coding gene gene with protein product 606730 oxysterol binding protein-like 1B OSBPL1B NA 11279184, 10588946 Standard NM_080597 NM_080597 NA Approved ORP-1, ORP1 uc002kve.3 Q9BXW6 OTTHUMG00000131944 ENST00000319481.3:c.*803C>G chr18.hg19:g.21742340G>C NA B7Z7D3|Q9BZF5|Q9NW87 hg19 CCDS11884.1 0.02 4.694 CTGxAAG COVERED NOVEL OSBPL1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254902.1 0 6.018908 KEEP 0 0 0 20 664 GG 0.999863 0.999863 0 - 6 60 234 0 0 15.397151 140 60 5144 188 ENST00000319481.3 0.041096 1 OSBPL1A 114876 __UNKNOWN__ __UNKNOWN__ 18 21946572 21946572 __UNKNOWN__ Intron SNP T T A rs546254870|rs368553568|rs656487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:21946572T>A ENST00000399441.4 - 4 500 OSBPL1A_ENST00000319481.3_Intron|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000582618.1_5'UTR Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634) cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) attttTTTTTTAAAAAAAAGA 0.373 NA t||| 3373 0.673522 0.789 0.5562 5008 , , NA 18744 0.7589 NA 0.5895 False NA ,,, NA NA NA 2504 0.5992 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF392449, AF274714 CCDS11884.1, CCDS11885.1, CCDS56056.1 18q11.2 2014-06-03 2014-06-03 2014-06-03 ENSG00000141447 ENSG00000141447 114876 Oxysterol binding proteins, Ankyrin repeat domain containing 16398 protein-coding gene gene with protein product 606730 oxysterol binding protein-like 1B OSBPL1B NA 11279184, 10588946 Standard NM_080597 NM_080597 NA Approved ORP-1, ORP1 uc002kve.3 Q9BXW6 OTTHUMG00000131944 ENST00000399441.4:c.282+283A>T chr18.hg19:g.21946572T>A NA B7Z7D3|Q9BZF5|Q9NW87 hg19 0.02 4.270223 TTTxAAA COVERED NOVEL OSBPL1A-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000446361.1 0 6.317047 KEEP 0 0 0 21 615 TT 0.999869 0.999869 0 - 8 60 292 0 0 20.080863 118 60 4218 176 ENST00000399441.4 0.063492 1 KCTD1 284252 __UNKNOWN__ __UNKNOWN__ 18 24180890 24180890 __UNKNOWN__ Intron SNP G G A rs567555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:24180890G>A ENST00000579973.1 - 2 125 KCTD1_ENST00000584630.1_Intron|KCTD1_ENST00000317932.7_Intron NM_001258221.1|NM_198991.3 NP_001245150.1|NP_945342.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) TGTCATTTATGTTAACCTTCA 0.433 NA G||| 786 0.156949 0.1316 0.1542 5008 , , NA 23552 0.2242 NA 0.1233 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF542549 CCDS11888.1 18q11.2 2013-09-20 2013-06-20 ENSG00000134504 ENSG00000134504 284252 18249 protein-coding gene gene with protein product 613420 potassium channel tetramerisation domain containing 1 C18orf5 NA Standard XM_209091 NM_001142730 NA Approved uc010xbj.3 Q719H9 OTTHUMG00000131947 ENST00000579973.1:c.14+28220C>T chr18.hg19:g.24180890G>A NA A8K1F5 hg19 CCDS11888.1 0.02 13.354935 TATxTTA COVERED NOVEL KCTD1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000254906.2 0 7.523289 KEEP 0 0 0 25 878 GG 0.999931 0.999931 0 - 20 60 681 0 0 45.329201 296 60 11263 387 ENST00000579973.1 0.063291 1 CHST9 83539 __UNKNOWN__ __UNKNOWN__ 18 24497240 24497240 __UNKNOWN__ Silent SNP A A G rs144665290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:24497240A>G ENST00000284224.8 - 6 592 c.315T>C c.(313-315)acT>acC p.T105T AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.T105T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 105 NA carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790) extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) TTAAGAGCCTAGTAGATCTCT 0.398 NA A||| 20 0.00399361 0.0 0.0 5008 , , NA 20224 0.0198 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A 2,3716 0,2,1857 279 249 259 315 -1.5 0 18 dbSNP_134 259 0,8182 0,0,4091 no coding-synonymous CHST9 NM_031422.4 0,2,5948 GG,GA,AA 0.0,0.0538,0.0168 105/444 24497240 2,11898 1859 4091 5950 SO:0001819 synonymous_variant AF239821 CCDS42422.1, CCDS58618.1 18q11.2 2011-04-28 ENSG00000154080 ENSG00000154080 83539 Sulfotransferases, membrane-bound 19898 protein-coding gene gene with protein product 610191 NA 11139592, 11445554 Standard NM_031422 NM_031422 NA Approved GALNAC4ST-2, GALNAC-4-ST2 uc002kwe.4 Q7L1S5 ENST00000284224.8:c.315T>C chr18.hg19:g.24497240A>G NA Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9 hg19 CCDS42422.1 0.02 14.816266 CCTxGTA COVERED NOVEL CHST9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000446549.1 4 16.851034 KEEP 0 0 0 56 1765 AA 1 1 0 - 10 60 373 0 0 21.785179 389 60 14548 537 ENST00000284224.8 0.025063 1 DSC2 1824 __UNKNOWN__ __UNKNOWN__ 18 28647848 28647848 __UNKNOWN__ 3'UTR SNP C C T rs139923163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:28647848C>T ENST00000280904.6 - 0 3282 DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 NA NA bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005) cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTGCATTTGACCAAAGAGATT 0.284 NA C||| 82 0.0163738 0.0 0.0879 5008 , , NA 16538 0.0208 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X56807 CCDS11892.1, CCDS11893.1 18q12.1 2014-09-17 ENSG00000134755 ENSG00000134755 1824 Cadherins / Major cadherins 3036 protein-coding gene gene with protein product 125645 DSC3 NA 7774948 Standard NM_004949 NM_024422 NA Approved CDHF2 uc002kwl.4 Q02487 OTTHUMG00000131981 ENST00000280904.6:c.*133G>A chr18.hg19:g.28647848C>T NA hg19 CCDS11892.1 0.02 6.120987 TGAxCAA COVERED NOVEL DSC2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000254943.1 0 4.815674 KEEP 0 0 0 16 563 CC 0.997832 0.997832 0 - 6 60 210 0 0 12.512545 170 60 6223 201 ENST00000280904.6 0.034091 1 GAREM 64762 __UNKNOWN__ __UNKNOWN__ 18 29890411 29890411 __UNKNOWN__ Intron SNP C C T rs625361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:29890411C>T ENST00000269209.6 - 3 266 GAREM_ENST00000578619.1_Intron|GAREM_ENST00000399218.4_Intron Q9H706 GAREM_HUMAN GRB2 associated, regulator of MAPK1 NA NA cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374) plasma membrane (GO:0005886) proline-rich region binding (GO:0070064) NA CATCATTAATCTTTTTAAAAA 0.328 NA T||| 1419 0.283347 0.5582 0.183 5008 , , NA 18171 0.0942 NA 0.1879 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025263 CCDS11905.1, CCDS56057.1 18q12.1 2012-11-30 2012-11-30 2012-11-30 ENSG00000141441 ENSG00000141441 64762 26136 protein-coding gene gene with protein product Grb2-associated and regulator of Erk/MAPK chromosome 18 open reading frame 11, family with sequence similarity 59, member A C18orf11, FAM59A NA 19509291 Standard NM_022751 NM_001242409 NA Approved FLJ21610 uc002kxl.3 Q9H706 OTTHUMG00000132273 ENST00000269209.6:c.263-125G>A chr18.hg19:g.29890411C>T NA Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5 hg19 CCDS56057.1 0.02 1.900437 AATxTTT COVERED NOVEL GAREM-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255365.1 0 6.31073 KEEP 0 0 0 21 715 CC 0.999869 0.994953 0 - 4 60 144 0 0 9.730157 63 60 2383 92 ENST00000269209.6 0.059701 0.995084 DTNA 1837 __UNKNOWN__ __UNKNOWN__ 18 32346034 32346034 __UNKNOWN__ Intron SNP A A G rs75545220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32346034A>G ENST00000399113.3 + 2 148 DTNA_ENST00000554864.3_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000269190.7_Intron|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000315456.6_Intron Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha NA NA neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268) axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202) calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TGGACTAATTACCATCATGAA 0.328 NA A||| 43 0.00858626 0.0 0.0 5008 , , NA 17224 0.0407 NA 0.002 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 A ,,,,,,,,,,, 0,4406 0,0,2203 78 68 71 ,,,,,,,,,,, 4.1 0.8 18 dbSNP_132 71 2,8598 2.2+/-6.3 0,2,4298 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron DTNA NM_001128175.1,NM_001198938.1,NM_001198939.1,NM_001198940.1,NM_001198941.1,NM_001198945.1,NM_001390.4,NM_001391.5,NM_001392.4,NM_032975.3,NM_032978.6,NM_032979.4 ,,,,,,,,,,, 0,2,6501 GG,GA,AA 0.0233,0.0,0.0154 ,,,,,,,,,,, ,,,,,,,,,,, 32346034 2,13004 2203 4300 6503 SO:0001627 intron_variant U84540 CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1 18q12 2014-09-17 ENSG00000134769 ENSG00000134769 1837 3057 protein-coding gene gene with protein product dystrophin-related protein 3 601239 NA 8081380, 15834686 Standard NM_001390 NM_001390 NA Approved D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3 uc010dmn.1 Q9Y4J8 OTTHUMG00000132309 ENST00000399113.3:c.148+29A>G chr18.hg19:g.32346034A>G NA A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59 hg19 CCDS59311.1 0.02 11.692707 ATTxCCA COVERED NOVEL DTNA-005 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255422.2 1 8.72235 KEEP 0 0 0 29 846 AA 0.999997 0.999997 0 + 8 60 311 0 0 19.461779 248 60 8601 315 ENST00000399113.3 0.03125 1 DTNA 1837 __UNKNOWN__ __UNKNOWN__ 18 32447845 32447845 __UNKNOWN__ Intron SNP G G A rs74443670 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32447845G>A ENST00000399113.3 + 16 1662 DTNA_ENST00000269192.7_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000348997.5_3'UTR|DTNA_ENST00000269191.6_3'UTR|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000399121.5_Intron Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha NA NA neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268) axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202) calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270) endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 CGGGTACTGCGGTGTCGGTAC 0.577 NA OREG0024913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 48 0.00958466 0.0 0.0 5008 , , NA 16645 0.0437 NA 0.004 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U84540 CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1 18q12 2014-09-17 ENSG00000134769 ENSG00000134769 1837 3057 protein-coding gene gene with protein product dystrophin-related protein 3 601239 NA 8081380, 15834686 Standard NM_001390 NM_001390 NA Approved D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3 uc010dmn.1 Q9Y4J8 OTTHUMG00000132309 ENST00000399113.3:c.1662+3819G>A chr18.hg19:g.32447845G>A 832 A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59 hg19 CCDS59311.1 0.02 8.903217 TGCxGTG COVERED NOVEL DTNA-005 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255422.2 1 19.239479 KEEP 0 0 0 64 2157 GG 1 1 0 + 9 60 335 0 0 21.071688 235 60 8275 371 ENST00000399113.3 0.036885 1 MAPRE2 10982 __UNKNOWN__ __UNKNOWN__ 18 32720359 32720359 __UNKNOWN__ 3'UTR SNP C C T rs3786313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32720359C>T ENST00000589699.1 + 0 1005 MAPRE2_ENST00000300249.5_3'UTR|MAPRE2_ENST00000436190.2_3'UTR|MAPRE2_ENST00000538170.2_3'UTR|MAPRE2_ENST00000413393.1_3'UTR Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 NA NA cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 CTTGACACTTCCATTGTGTGT 0.562 NA C||| 970 0.19369 0.1936 0.1772 5008 , , NA 19038 0.2242 NA 0.1113 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 C ,, 706,3686 64,578,1554 61 65 64 ,, 2.2 1 18 dbSNP_107 64 902,7688 54,794,3447 no utr-3,utr-3,utr-3 MAPRE2 NM_001143826.1,NM_001143827.1,NM_014268.2 ,, 118,1372,5001 TT,TC,CC 10.5006,16.0747,12.3864 ,, ,, 32720359 1608,11374 2196 4295 6491 SO:0001624 3_prime_UTR_variant X94232 CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1 18q12.1 2013-01-17 ENSG00000166974 ENSG00000166974 10982 6891 protein-coding gene gene with protein product APC-binding protein EB1 605789 NA 9233623, 12475954 Standard NM_014268 NM_001143826 NA Approved RP1, EB1, EB2 uc010xcc.3 Q15555 OTTHUMG00000132551 ENST00000589699.1:c.*26C>T chr18.hg19:g.32720359C>T NA B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33 hg19 CCDS45851.1 0.02 12.34579 CTTxCAT COVERED NOVEL MAPRE2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442242.1 1 27.686352 KEEP 0 0 0 92 3220 CC 1 1 0 + 15 60 538 0 0 34.270151 325 60 12189 562 ENST00000589699.1 0.044118 1 MAPRE2 10982 __UNKNOWN__ __UNKNOWN__ 18 32721078 32721078 __UNKNOWN__ 3'UTR SNP C C T rs3810021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32721078C>T ENST00000589699.1 + 0 1724 MAPRE2_ENST00000300249.5_3'UTR|MAPRE2_ENST00000436190.2_3'UTR|MAPRE2_ENST00000538170.2_3'UTR|MAPRE2_ENST00000413393.1_3'UTR Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 NA NA cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 CCCCATGTAGCCCATTTCCCA 0.478 NA C||| 970 0.19369 0.1944 0.1772 5008 , , NA 20168 0.2242 NA 0.1113 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X94232 CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1 18q12.1 2013-01-17 ENSG00000166974 ENSG00000166974 10982 6891 protein-coding gene gene with protein product APC-binding protein EB1 605789 NA 9233623, 12475954 Standard NM_014268 NM_001143826 NA Approved RP1, EB1, EB2 uc010xcc.3 Q15555 OTTHUMG00000132551 ENST00000589699.1:c.*745C>T chr18.hg19:g.32721078C>T NA B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33 hg19 CCDS45851.1 0.02 7.693241 TAGxCCA COVERED NOVEL MAPRE2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442242.1 1 12.022833 KEEP 0 0 0 40 1380 CC 1 1 0 + 11 60 388 0 0 24.770406 224 60 8194 325 ENST00000589699.1 0.046809 1 MAPRE2 10982 __UNKNOWN__ __UNKNOWN__ 18 32721761 32721761 __UNKNOWN__ 3'UTR SNP T T C rs76763034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32721761T>C ENST00000589699.1 + 0 2407 MAPRE2_ENST00000300249.5_3'UTR|MAPRE2_ENST00000436190.2_3'UTR|MAPRE2_ENST00000538170.2_3'UTR|MAPRE2_ENST00000413393.1_3'UTR Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 NA NA cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 GAAACAAATGTGCCCACCCCA 0.328 NA T||| 112 0.0223642 0.0 0.0317 5008 , , NA 16055 0.0873 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X94232 CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1 18q12.1 2013-01-17 ENSG00000166974 ENSG00000166974 10982 6891 protein-coding gene gene with protein product APC-binding protein EB1 605789 NA 9233623, 12475954 Standard NM_014268 NM_001143826 NA Approved RP1, EB1, EB2 uc010xcc.3 Q15555 OTTHUMG00000132551 ENST00000589699.1:c.*1428T>C chr18.hg19:g.32721761T>C NA B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33 hg19 CCDS45851.1 0.02 8.870589 ATGxGCC COVERED NOVEL MAPRE2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442242.1 2 15.947895 KEEP 0 0 0 53 1671 TT 1 1 0 + 9 60 319 0 0 20.207106 194 60 7033 312 ENST00000589699.1 0.044335 1 MAPRE2 10982 __UNKNOWN__ __UNKNOWN__ 18 32722154 32722154 __UNKNOWN__ 3'UTR SNP C C A rs13512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32722154C>A ENST00000589699.1 + 0 2800 MAPRE2_ENST00000300249.5_3'UTR|MAPRE2_ENST00000436190.2_3'UTR|MAPRE2_ENST00000538170.2_3'UTR|MAPRE2_ENST00000413393.1_3'UTR Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 NA NA cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 TGTGCTATACCCAGCATCATG 0.463 NA A||| 970 0.19369 0.1936 0.1772 5008 , , NA 20104 0.2242 NA 0.1113 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X94232 CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1 18q12.1 2013-01-17 ENSG00000166974 ENSG00000166974 10982 6891 protein-coding gene gene with protein product APC-binding protein EB1 605789 NA 9233623, 12475954 Standard NM_014268 NM_001143826 NA Approved RP1, EB1, EB2 uc010xcc.3 Q15555 OTTHUMG00000132551 ENST00000589699.1:c.*1821C>A chr18.hg19:g.32722154C>A NA B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33 hg19 CCDS45851.1 0.02 3.80984 TACxCAG COVERED NOVEL MAPRE2-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442242.1 1 6.922374 KEEP 0 0 0 23 800 CC 0.999892 0.999892 0 + 5 60 171 0 0 10.239124 128 60 4675 181 ENST00000589699.1 0.037594 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 32724324 32724324 __UNKNOWN__ IGR SNP T T C rs550139 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32724324T>C NA NA MAPRE2 (890 upstream) : ZNF397 (96676 downstream) NA NA NA GGTTTGAAATTTCATGCTCAA 0.398 NA OREG0024915 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2562 0.511581 0.7943 0.3646 5008 , , NA 20714 0.5317 NA 0.2555 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.32724324T>C 834 hg19 0.02 7.386323 AATxTCA COVERED NOVEL 0 2 18.054796 KEEP 0 0 0 60 1912 TT 1 1 0 7 60 260 0 0 16.339806 184 60 6642 299 0.036649 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 32725041 32725041 __UNKNOWN__ IGR SNP C C G rs12969935 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:32725041C>G NA NA MAPRE2 (1607 upstream) : ZNF397 (95959 downstream) NA NA NA GTATAGATTACGAGTACACAG 0.493 NA G||| 973 0.194289 0.1952 0.1772 5008 , , NA 17013 0.2252 NA 0.1113 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.32725041C>G NA hg19 0.02 12.312464 TTAxGAG COVERED NOVEL 0 0 21.06842 KEEP 0 0 0 70 2459 CC 1 1 0 10 60 394 0 0 25.700553 254 60 9043 417 0.037879 1 GALNT1 2589 __UNKNOWN__ __UNKNOWN__ 18 33291393 33291393 __UNKNOWN__ 3'UTR SNP A A G rs1573367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:33291393A>G ENST00000269195.5 + 0 3442 NM_020474.3 NP_065207.2 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 NA NA cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243) extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1) 21 GTTAATCAACATCAAGCACAT 0.383 NA A||| 542 0.108227 0.0015 0.0418 5008 , , NA 17462 0.3948 NA 0.008 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11915.1 18q12.1 2014-03-13 2014-03-13 ENSG00000141429 ENSG00000141429 2589 2.4.1.41 Glycosyltransferase family 2 domain containing 4123 protein-coding gene gene with protein product protein-UDP acetylgalactosaminyltransferase 1, polypeptide GalNAc transferase 1 602273 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) NA 7592619, 12199709 Standard NM_020474 NM_020474 NA Approved GalNAc-T1 uc002kzb.3 Q10472 OTTHUMG00000132567 ENST00000269195.5:c.*1659A>G chr18.hg19:g.33291393A>G NA Q86TJ7|Q9UM86 hg19 CCDS11915.1 0.02 6.985835 AACxTCA COVERED NOVEL GALNT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255771.2 0 7.222045 KEEP 0 0 0 24 763 AA 0.999909 0.999909 0 + 8 60 296 0 0 19.697297 149 60 5534 225 ENST00000269195.5 0.050955 1 ELP2 55250 __UNKNOWN__ __UNKNOWN__ 18 33721376 33721376 __UNKNOWN__ Intron SNP G G C rs8097449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:33721376G>C ENST00000350494.6 + 6 719 ELP2_ENST00000442325.2_Intron|ELP2_ENST00000423854.2_Intron|ELP2_ENST00000358232.6_Intron|ELP2_ENST00000351393.6_Intron|ELP2_ENST00000542824.1_Intron NM_001242876.1 NP_001229805.1 Q6IA86 ELP2_HUMAN elongator acetyltransferase complex subunit 2 NA NA chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368) cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023) NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2) 30 GAGTTGTTAGGGGGAAACAGG 0.418 NA G||| 1130 0.225639 0.0151 0.1744 5008 , , NA 17239 0.3929 NA 0.2247 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001741 CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1 18q12.1 2013-01-10 2012-08-08 2007-04-20 ENSG00000134759 ENSG00000134759 55250 Elongator acetyltransferase complex subunits, WD repeat domain containing 18248 protein-coding gene gene with protein product signal transducer and activator of transcription 3 interacting protein 1, elongation protein 2 homolog (S. cerevisiae) STATIP1 NA 11714725, 10954736 Standard NM_018255 NM_001242875 NA Approved FLJ10879, StIP uc002kzk.2 Q6IA86 OTTHUMG00000132589 ENST00000350494.6:c.705+212G>C chr18.hg19:g.33721376G>C NA A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81 hg19 CCDS56066.1 0.02 8.232149 TAGxGGG COVERED 457 0.20924908424908426 16 0.032520325203252036 61 0.1685082872928177 225 0.39335664335664333 155 0.20448548812664907 G 5.802 0.332291 0.10956 . . ENSG00000134759 ENST00000535093 . . . 3.2 -2.74 0.05932 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.44847 -0.9301 3 . . . . 4.7823 0.13208 0.5605:0.1778:0.2617:0.0 rs8097449 . . . A 14 . . G + 2 0 ELP2 31975374 0.000000 0.05858 0.000000 0.03702 0.014000 0.08584 -0.363000 0.07593 -0.692000 0.05128 0.551000 0.68910 GGG NOVEL ELP2-005 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000396667.1 2 18.598182 KEEP 0 0 0 62 2148 GG 1 1 0 + 7 60 252 0 0 15.090243 212 60 7914 349 ENST00000350494.6 0.031963 1 MOCOS 55034 __UNKNOWN__ __UNKNOWN__ 18 33838796 33838796 __UNKNOWN__ Intron SNP A A G rs8084349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:33838796A>G ENST00000261326.5 + 13 2291 MOCOS_ENST00000588132.1_Intron NM_017947.2 NP_060417.2 molybdenum cofactor sulfurase NA NA breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GTATCTGCTGATAAACACATT 0.428 NA A||| 763 0.152356 0.121 0.0937 5008 , , NA 19246 0.2242 NA 0.174 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000740 CCDS11919.1 18q12 2003-12-18 ENSG00000075643 ENSG00000075643 55034 18234 protein-coding gene gene with protein product 613274 NA 11302742 Standard NM_017947 NA Approved HMCS, FLJ20733, MOS uc002kzq.4 Q96EN8 OTTHUMG00000132590 ENST00000261326.5:c.2271-1204A>G chr18.hg19:g.33838796A>G NA hg19 CCDS11919.1 0.02 6.410688 CTGxTAA COVERED NOVEL MOCOS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255801.1 3 11.43473 KEEP 0 0 0 38 1201 AA 1 1 0 + 7 60 253 0 0 15.84842 170 60 6359 260 ENST00000261326.5 0.039548 1 MOCOS 55034 __UNKNOWN__ __UNKNOWN__ 18 33849868 33849868 __UNKNOWN__ 3'UTR SNP G G T rs529342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:33849868G>T ENST00000261326.5 + 0 3908 NM_017947.2 NP_060417.2 molybdenum cofactor sulfurase NA NA breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CTTCCCTAATGTATCTGTTCA 0.498 NA T||| 3899 0.778554 0.916 0.8012 5008 , , NA 19974 0.8006 NA 0.7505 False NA ,,, NA NA NA 2504 0.5828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK000740 CCDS11919.1 18q12 2003-12-18 ENSG00000075643 ENSG00000075643 55034 18234 protein-coding gene gene with protein product 613274 NA 11302742 Standard NM_017947 NA Approved HMCS, FLJ20733, MOS uc002kzq.4 Q96EN8 OTTHUMG00000132590 ENST00000261326.5:c.*1220G>T chr18.hg19:g.33849868G>T NA hg19 CCDS11919.1 0.02 6.722268 AATxTAT COVERED NOVEL MOCOS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255801.1 1 4.14795 KEEP 0 1 29 24 855 GG 0.999931 0.999931 0 + 9 60 332 0 0 21.828027 178 60 6735 238 ENST00000261326.5 0.048128 1 RIT2 6014 __UNKNOWN__ __UNKNOWN__ 18 40554120 40554120 __UNKNOWN__ Intron SNP A A G rs16977171 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:40554120A>G ENST00000326695.5 - 3 332 RIT2_ENST00000589109.1_Intron|RIT2_ENST00000282028.4_Intron|RIT2_ENST00000590910.1_Intron NM_002930.2 NP_002921.1 Q99578 RIT2_HUMAN Ras-like without CAAX 2 NA NA neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268) nucleus (GO:0005634)|plasma membrane (GO:0005886) calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTTCTGAAAAACACAAGACAA 0.343 NA A||| 508 0.101438 0.0166 0.1542 5008 , , NA 14865 0.1815 NA 0.0954 False NA ,,, NA NA NA 2504 0.1022 NA NA NA NA 0 A 146,4260 98.0+/-136.7 5,136,2062 67 58 61 5.4 1 18 dbSNP_123 61 731,7869 168.7+/-220.2 32,667,3601 no intron RIT2 NM_002930.2 37,803,5663 GG,GA,AA 8.5,3.3137,6.743 40554120 877,12129 2203 4300 6503 SO:0001627 intron_variant BC018060 CCDS11921.1, CCDS62431.1 18q12.3 2014-05-09 2002-09-11 2002-09-13 ENSG00000152214 ENSG00000152214 6014 10017 protein-coding gene gene with protein product 609592 Ric (Drosophila)-like, expressed in neurons RIN NA 8824319, 8918462 Standard NM_002930 NM_002930 NA Approved RIBA uc002lav.4 Q99578 OTTHUMG00000132611 ENST00000326695.5:c.161-8T>C chr18.hg19:g.40554120A>G NA B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964 hg19 CCDS11921.1 0.02 4.643278 AAAxCAC COVERED NOVEL RIT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255852.1 0 6.619186 KEEP 0 0 0 22 680 AA 0.999879 0.999878 0 - 7 60 257 0 0 17.229908 122 60 4319 178 ENST00000326695.5 0.054264 1 SLC14A2 8170 __UNKNOWN__ __UNKNOWN__ 18 43262664 43262664 __UNKNOWN__ 3'UTR SNP A A T rs7244213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43262664A>T ENST00000255226.6 + 0 3759 RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_3'UTR|SLC14A2_ENST00000589658.1_3'UTR NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 NA NA transmembrane transport (GO:0055085)|urea transport (GO:0015840) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CACAACACTTATCAAAGATAT 0.428 NA A||| 976 0.194888 0.0825 0.1988 5008 , , NA 20210 0.3929 NA 0.163 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X96969 CCDS11924.1 18q12.1-q21.1 2013-05-22 ENSG00000132874 ENSG00000132874 8170 Solute carriers 10919 protein-coding gene gene with protein product 601611 NA 8647271 Standard NM_007163 NA Approved HUT2, UT2 uc010dnj.3 Q15849 OTTHUMG00000132616 ENST00000255226.6:c.*180A>T chr18.hg19:g.43262664A>T NA A8K8Q7|Q2TBD6|Q96PH5 hg19 CCDS11924.1 0.02 4.372371 CTTxTCA COVERED NOVEL SLC14A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255858.1 1 4.21203 KEEP 0 0 0 14 431 AA 0.995343 0.995321 0 + 6 60 215 0 0 14.456362 96 60 3522 134 ENST00000255226.6 0.058824 0.999978 SLC14A1 6563 __UNKNOWN__ __UNKNOWN__ 18 43307246 43307246 __UNKNOWN__ Missense_Mutation SNP C C T rs11877062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43307246C>T ENST00000436407.3 + 1 557 c.10C>T c.(10-12)Cgg>Tgg p.R4W RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R4W|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000321925.4_Intron|SLC14A1_ENST00000502059.2_5'UTR NM_001146037.1 NP_001139509.1 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 0 NA transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GATGAATGGACGGTCTTTGAT 0.517 NA C||| 2013 0.401957 0.1846 0.5115 5008 , , NA 19904 0.5188 NA 0.5089 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 C TRP/ARG,,TRP/ARG, 293,1091 28,237,427 63 52 55 10,,10, 2.8 0.9 18 dbSNP_120 55 1567,1615 399,769,423 yes missense,intron,missense,intron SLC14A1 NM_001128588.3,NM_001146036.2,NM_001146037.1,NM_015865.6 101,,101, 427,1006,850 TT,TC,CC 49.2458,21.1705,40.7359 probably-damaging,,probably-damaging, 4/446,,4/446, 43307246 1860,2706 692 1591 2283 SO:0001583 missense BC040128 CCDS11925.1, CCDS45860.1 18q11-q12 2014-07-19 2014-01-02 ENSG00000141469 ENSG00000141469 6563 Blood group antigens, Solute carriers 10918 protein-coding gene gene with protein product 613868 Kidd blood group, solute carrier family 14 (urea transporter), member 1 JK NA 7797558 Standard NM_015865 NM_001146037 NA Approved HsT1341, RACH1, RACH2 uc010dnk.3 Q13336 OTTHUMG00000132617 ENST00000436407.3:c.10C>T chr18.hg19:g.43307246C>T ENSP00000390637:p.Arg4Trp NA A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5 hg19 CCDS45860.1 0.02 2.03655 GGAxGGT COVERED 961 0.440018315018315 92 0.18699186991869918 188 0.5193370165745856 296 0.5174825174825175 385 0.5079155672823219 C 17.05 3.288793 0.59976 0.211705 0.492458 ENSG00000141469 ENST00000415427;ENST00000436407 T;T 0.48836 0.8;0.8 4.61 2.81 0.32909 . . . . . T 0.00012 0.0000 L 0.36672 1.1 0.09310 P 0.99999776371 D 0.63880 0.993 P 0.47705 0.555 T 0.48127 -0.9062 8 0.72032 D 0.01 . 6.976 0.24674 0.0:0.7872:0.0:0.2128 rs11877062;rs11877062 4 Q13336-2 . W 4 ENSP00000412309:R4W;ENSP00000390637:R4W ENSP00000412309:R4W R + 1 2 SLC14A1 41561244 0.376000 0.25098 0.918000 0.36340 0.911000 0.54048 0.567000 0.23608 0.488000 0.27723 0.467000 0.42956 CGG NOVEL SLC14A1-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000444689.1 0 5.116459 KEEP 0 0 0 17 589 CC 0.999366 0.999306 0 + 4 60 138 0 0 8.477209 93 60 3345 136 ENST00000436407.3 0.041237 0.99994 SLC14A1 6563 __UNKNOWN__ __UNKNOWN__ 18 43310187 43310187 __UNKNOWN__ Intron SNP A A G rs8090908 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43310187A>G ENST00000436407.3 + 2 694 RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000415427.3_Intron|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000321925.4_Intron|SLC14A1_ENST00000586142.1_5'UTR|SLC14A1_ENST00000502059.2_Intron NM_001146037.1 NP_001139509.1 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 (Kidd blood group) NA NA transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CAGATCTTCTACTGTAACCAG 0.473 NA A||| 2015 0.402356 0.1853 0.5115 5008 , , NA 20730 0.5188 NA 0.5099 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC040128 CCDS11925.1, CCDS45860.1 18q11-q12 2014-07-19 2014-01-02 ENSG00000141469 ENSG00000141469 6563 Blood group antigens, Solute carriers 10918 protein-coding gene gene with protein product 613868 Kidd blood group, solute carrier family 14 (urea transporter), member 1 JK NA 7797558 Standard NM_015865 NM_001146037 NA Approved HsT1341, RACH1, RACH2 uc010dnk.3 Q13336 OTTHUMG00000132617 ENST00000436407.3:c.148-78A>G chr18.hg19:g.43310187A>G NA A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5 hg19 CCDS45860.1 0.02 12.030953 TCTxCTG COVERED NOVEL SLC14A1-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000444689.1 1 6.618737 KEEP 0 0 0 22 682 AA 0.999879 0.999879 0 + 11 60 408 0 0 26.228382 252 60 8965 327 ENST00000436407.3 0.041825 1 SLC14A1 6563 __UNKNOWN__ __UNKNOWN__ 18 43316538 43316538 __UNKNOWN__ Silent SNP A A G rs2298718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43316538A>G ENST00000436407.3 + 5 1303 c.756A>G c.(754-756)ccA>ccG p.P252P RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000415427.3_Silent_p.P252P|SLC14A1_ENST00000402943.2_Silent_p.P91P|SLC14A1_ENST00000535474.1_Silent_p.P64P|SLC14A1_ENST00000321925.4_Silent_p.P196P|SLC14A1_ENST00000586142.1_Silent_p.P196P|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Silent_p.P88P|SLC14A1_ENST00000589700.1_Silent_p.P196P NM_001146037.1 NP_001139509.1 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 196 NA transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 ATTACAATCCATTCTTTCCAG 0.478 NA a||| 3562 0.711262 0.646 0.7464 5008 , , NA 19254 0.9315 NA 0.5865 False NA ,,, NA NA NA 2504 0.6759 NA NA NA NA 0 G ,,, 2790,1616 662.3+/-401.0 893,1004,306 153 134 140 756,588,756,588 -11 0 18 dbSNP_100 140 4771,3829 611.3+/-395.8 1321,2129,850 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous SLC14A1 NM_001128588.3,NM_001146036.2,NM_001146037.1,NM_015865.6 ,,, 2214,3133,1156 GG,GA,AA 44.5233,36.6773,41.8653 ,,, 252/446,196/390,252/446,196/390 43316538 7561,5445 2203 4300 6503 SO:0001819 synonymous_variant BC040128 CCDS11925.1, CCDS45860.1 18q11-q12 2014-07-19 2014-01-02 ENSG00000141469 ENSG00000141469 6563 Blood group antigens, Solute carriers 10918 protein-coding gene gene with protein product 613868 Kidd blood group, solute carrier family 14 (urea transporter), member 1 JK NA 7797558 Standard NM_015865 NM_001146037 NA Approved HsT1341, RACH1, RACH2 uc010dnk.3 Q13336 OTTHUMG00000132617 ENST00000436407.3:c.756A>G chr18.hg19:g.43316538A>G NA A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5 hg19 CCDS45860.1 0.02 10.098636 TCCxTTC COVERED NOVEL SLC14A1-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000444689.1 2 13.541561 KEEP 0 0 0 45 1432 AA 1 1 0 + 12 60 385 0 0 22.809437 278 60 10200 425 ENST00000436407.3 0.041379 1 SLC14A1 6563 __UNKNOWN__ __UNKNOWN__ 18 43319519 43319519 __UNKNOWN__ Missense_Mutation SNP G G A rs1058396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43319519G>A ENST00000436407.3 + 7 1553 c.1006G>A c.(1006-1008)Gac>Aac p.D336N RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.D336N|SLC14A1_ENST00000402943.2_Missense_Mutation_p.D175N|SLC14A1_ENST00000535474.1_Missense_Mutation_p.D148N|SLC14A1_ENST00000591541.1_5'UTR|SLC14A1_ENST00000321925.4_Missense_Mutation_p.D280N|SLC14A1_ENST00000586142.1_Missense_Mutation_p.D280N|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.D172N|SLC14A1_ENST00000589700.1_Silent_p.R230R NM_001146037.1 NP_001139509.1 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 280 NA transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CCCATTTGAGGACATCTACTT 0.522 NA G||| 2058 0.410942 0.2277 0.5187 5008 , , NA 21202 0.5258 NA 0.501 False NA ,,, NA NA NA 2504 0.3712 NA NA NA NA 0 GRCh37 CM973381 SLC14A1 M rs1058396 G ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP 1169,3237 411.5+/-335.8 166,837,1200 117 101 107 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 1006,838,1006,838 -7.6 0.2 18 dbSNP_86 107 4177,4423 567.8+/-388.9 1013,2151,1136 yes missense,missense,missense,missense SLC14A1 NM_001128588.3,NM_001146036.2,NM_001146037.1,NM_015865.6 23,23,23,23 1179,2988,2336 AA,AG,GG 48.5698,26.532,41.1041 benign,benign,benign,benign 336/446,280/390,336/446,280/390 43319519 5346,7660 2203 4300 6503 SO:0001583 missense BC040128 CCDS11925.1, CCDS45860.1 18q11-q12 2014-07-19 2014-01-02 ENSG00000141469 ENSG00000141469 6563 Blood group antigens, Solute carriers 10918 protein-coding gene gene with protein product 613868 Kidd blood group, solute carrier family 14 (urea transporter), member 1 JK NA 7797558 Standard NM_015865 NM_001146037 NA Approved HsT1341, RACH1, RACH2 uc010dnk.3 Q13336 OTTHUMG00000132617 ENST00000436407.3:c.1006G>A chr18.hg19:g.43319519G>A ENSP00000390637:p.Asp336Asn NA A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5 hg19 CCDS45860.1 0.02 8.232443 GAGxACA COVERED 983 0.4500915750915751 123 0.25 185 0.511049723756906 297 0.5192307692307693 378 0.49868073878627966 G 8.967 0.971992 0.18736 0.26532 0.485698 ENSG00000141469 ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407 T;T;T;T;T;T 0.50548 0.74;0.74;0.74;0.74;0.74;0.74 5.62 -7.56 0.01322 . 0.406612 0.26106 N 0.026306 T 0.00012 0.0000 N 0.16201 0.385 0.25146 P 0.99046678 B;B;B 0.09022 0.002;0.002;0.001 B;B;B 0.12837 0.002;0.008;0.008 T 0.41448 -0.9508 9 0.17369 T 0.5 -2.2595 13.0875 0.59149 0.7465:0.1444:0.1091:0.0 rs1058396;rs1802856;rs3199014;rs17748015;rs17846462;rs17847469;rs17859515;rs56527960;rs56745862;rs1058396 336;172;280 Q13336-2;B3KXJ3;Q13336 .;.;UT1_HUMAN N 280;336;172;175;148;336 ENSP00000318546:D280N;ENSP00000412309:D336N;ENSP00000442180:D172N;ENSP00000385320:D175N;ENSP00000441998:D148N;ENSP00000390637:D336N ENSP00000318546:D280N D + 1 0 SLC14A1 41573517 0.104000 0.21937 0.182000 0.23118 0.859000 0.49053 0.700000 0.25601 -1.283000 0.02393 0.591000 0.81541 GAC NOVEL SLC14A1-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000444689.1 1 9.028924 KEEP 0 0 0 30 1045 GG 0.999997 0.999997 0 + 11 60 388 0 0 25.11818 208 60 7684 298 ENST00000436407.3 0.050228 1 SLC14A1 6563 __UNKNOWN__ __UNKNOWN__ 18 43332255 43332255 __UNKNOWN__ 3'UTR SNP C C T rs3087560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43332255C>T ENST00000321925.4 + 0 3741 NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 (Kidd blood group) NA NA transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 AAAATGGACCCGAGTCGATCT 0.418 NA C||| 2117 0.422724 0.2322 0.4813 5008 , , NA 18223 0.504 NA 0.5726 False NA ,,, NA NA NA 2504 0.4008 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC040128 CCDS11925.1, CCDS45860.1 18q11-q12 2014-07-19 2014-01-02 ENSG00000141469 ENSG00000141469 6563 Blood group antigens, Solute carriers 10918 protein-coding gene gene with protein product 613868 Kidd blood group, solute carrier family 14 (urea transporter), member 1 JK NA 7797558 Standard NM_015865 NM_001146037 NA Approved HsT1341, RACH1, RACH2 uc010dnk.3 Q13336 OTTHUMG00000132617 ENST00000321925.4:c.*2339C>T chr18.hg19:g.43332255C>T NA A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5 hg19 CCDS11925.1 0.02 9.255751 ACCxGAG COVERED NOVEL SLC14A1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000255860.2 1 6.354363 KEEP 0 1 31 32 1077 CC 0.999998 0.999998 0 + 12 60 447 0 0 30.356688 202 60 7069 313 ENST00000321925.4 0.056075 1 SIGLEC15 284266 __UNKNOWN__ __UNKNOWN__ 18 43405792 43405792 __UNKNOWN__ Intron SNP T T C rs1440822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43405792T>C ENST00000389474.3 + 1 269 NM_213602.2 NP_998767.1 Q6ZMC9 SIG15_HUMAN sialic acid binding Ig-like lectin 15 NA NA cellular response to lipoprotein particle stimulus (GO:0071402)|innate immune response (GO:0045087)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of bone resorption (GO:0045124)|regulation of osteoclast development (GO:2001204) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 ACAGAATAGATGCTGAAAGCA 0.592 NA T||| 2446 0.488419 0.5877 0.3818 5008 , , NA 16627 0.5248 NA 0.5 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 T 2529,1877 630.7+/-395.5 705,1119,379 86 65 72 -4 0 18 dbSNP_88 72 4372,4228 582.2+/-391.3 1110,2152,1038 no intron SIGLEC15 NM_213602.2 1815,3271,1417 CC,CT,TT 49.1628,42.601,46.9399 43405792 6901,6105 2203 4300 6503 SO:0001627 intron_variant AK095432 CCDS32819.1 18q21.1 2014-01-28 2007-05-31 2007-05-31 ENSG00000197046 ENSG00000197046 284266 Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 27596 protein-coding gene gene with protein product CD33 antigen-like 3, CD33 molecule-like 3 CD33L3 NA 17483134 Standard NM_213602 NM_213602 NA Approved HsT1361 uc002lbl.1 Q6ZMC9 ENST00000389474.3:c.52+47T>C chr18.hg19:g.43405792T>C NA A8K2Y5|B4DVQ9 hg19 CCDS32819.1 0.02 9.591575 AGAxGCT COVERED NOVEL SIGLEC15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000410768.2 3 11.133423 KEEP 0 0 0 37 1168 TT 1 1 0 + 18 60 642 0 0 44.834789 228 60 8335 354 ENST00000389474.3 0.073171 1 EPG5 57724 __UNKNOWN__ __UNKNOWN__ 18 43429183 43429183 __UNKNOWN__ 3'UTR SNP T T A rs1788079 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43429183T>A ENST00000282041.5 - 0 11023 NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) NA NA autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 gaggggcaagtgaacagcccc 0.488 NA A||| 4225 0.84365 0.9675 0.8372 5008 , , NA 18022 0.9187 NA 0.7266 False NA ,,, NA NA NA 2504 0.7239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023817 CCDS11926.2 18q12.3 2011-03-02 2011-03-02 2011-03-02 ENSG00000152223 ENSG00000152223 57724 29331 protein-coding gene gene with protein product 615068 KIAA1632 KIAA1632 NA 10997877, 20550938 Standard NM_020964 XM_005258323 NA Approved hEPG5 uc002lbm.3 Q9HCE0 OTTHUMG00000132626 ENST00000282041.5:c.*3249A>T chr18.hg19:g.43429183T>A NA A2BDF3|Q9H8C8 hg19 CCDS11926.2 0.02 6.549146 AAGxGAA COVERED NOVEL EPG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445081.1 2 4.788886 KEEP 0 1 8 19 588 TT 0.999863 0.999863 0 - 9 60 320 0 0 20.6986 175 60 6210 261 ENST00000282041.5 0.048913 1 EPG5 57724 __UNKNOWN__ __UNKNOWN__ 18 43429966 43429966 __UNKNOWN__ 3'UTR SNP C C T rs2282614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43429966C>T ENST00000282041.5 - 0 10240 NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) NA NA autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGCAGCCTGCCTCTGCAACC 0.542 NA OREG0024950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2250 0.449281 0.3502 0.3991 5008 , , NA 21643 0.5635 NA 0.5666 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK023817 CCDS11926.2 18q12.3 2011-03-02 2011-03-02 2011-03-02 ENSG00000152223 ENSG00000152223 57724 29331 protein-coding gene gene with protein product 615068 KIAA1632 KIAA1632 NA 10997877, 20550938 Standard NM_020964 XM_005258323 NA Approved hEPG5 uc002lbm.3 Q9HCE0 OTTHUMG00000132626 ENST00000282041.5:c.*2466G>A chr18.hg19:g.43429966C>T 916 A2BDF3|Q9H8C8 hg19 CCDS11926.2 0.02 4.077905 CTGxCTC COVERED NOVEL EPG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445081.1 3 5.417169 KEEP 0 0 0 18 621 CC 0.999859 0.999859 0 - 8 60 287 0 0 19.008489 140 60 5199 196 ENST00000282041.5 0.054054 1 EPG5 57724 __UNKNOWN__ __UNKNOWN__ 18 43446734 43446734 __UNKNOWN__ Intron SNP T T C rs3826633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43446734T>C ENST00000282041.5 - 38 6656 EPG5_ENST00000585906.1_Intron NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) NA NA autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 AGGAACAGTCTCTGCCTTTTA 0.443 NA C||| 4226 0.84385 0.966 0.8357 5008 , , NA 20773 0.9196 NA 0.7296 False NA ,,, NA NA NA 2504 0.7239 NA NA NA NA 0 C 3565,255 1665,235,10 94 99 97 -2.8 0 18 dbSNP_107 97 5994,2246 2162,1670,288 no intron EPG5 NM_020964.2 3827,1905,298 CC,CT,TT 27.2573,6.6754,20.738 43446734 9559,2501 1910 4120 6030 SO:0001627 intron_variant AK023817 CCDS11926.2 18q12.3 2011-03-02 2011-03-02 2011-03-02 ENSG00000152223 ENSG00000152223 57724 29331 protein-coding gene gene with protein product 615068 KIAA1632 KIAA1632 NA 10997877, 20550938 Standard NM_020964 XM_005258323 NA Approved hEPG5 uc002lbm.3 Q9HCE0 OTTHUMG00000132626 ENST00000282041.5:c.6621+28A>G chr18.hg19:g.43446734T>C NA A2BDF3|Q9H8C8 hg19 CCDS11926.2 0.02 4.754043 GTCxCTG COVERED NOVEL EPG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445081.1 1 9.628515 KEEP 0 0 0 32 999 TT 0.999997 0.999984 0 - 8 60 283 0 0 19.840065 97 60 3598 165 ENST00000282041.5 0.07619 0.999987 EPG5 57724 __UNKNOWN__ __UNKNOWN__ 18 43496165 43496165 __UNKNOWN__ Missense_Mutation SNP T T C rs3744997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43496165T>C ENST00000282041.5 - 19 3425 c.3391A>G c.(3391-3393)Ata>Gta p.I1131V EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1131 NA I -> V (in dbSNP:rs3744997). autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CTTACAGATATGTGTGCCTGT 0.468 NA T||| 15 0.00299521 0.0 0.0 5008 , , NA 18713 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T VAL/ILE 1,3813 0,1,1906 55 54 54 3391 2.1 1 18 dbSNP_107 54 0,8238 0,0,4119 yes missense EPG5 NM_020964.2 29 0,1,6025 CC,CT,TT 0.0,0.0262,0.0083 benign 1131/2580 43496165 1,12051 1907 4119 6026 SO:0001583 missense AK023817 CCDS11926.2 18q12.3 2011-03-02 2011-03-02 2011-03-02 ENSG00000152223 ENSG00000152223 57724 29331 protein-coding gene gene with protein product 615068 KIAA1632 KIAA1632 NA 10997877, 20550938 Standard NM_020964 XM_005258323 NA Approved hEPG5 uc002lbm.3 Q9HCE0 OTTHUMG00000132626 ENST00000282041.5:c.3391A>G chr18.hg19:g.43496165T>C ENSP00000282041:p.Ile1131Val NA A2BDF3|Q9H8C8 hg19 CCDS11926.2 0.02 2.189316 ATAxGTG COVERED 8 0.003663003663003663 0 0.0 0 0.0 8 0.013986013986013986 0 0.0 T 9.306 1.054276 0.19907 2.62E-4 0.0 ENSG00000152223 ENST00000282041;ENST00000308403 T 0.10382 2.88 5.89 2.08 0.27032 . 0.462648 0.26013 N 0.026871 T 0.04998 0.0134 L 0.31926 0.97 0.34671 D 0.723688 B;B 0.19583 0.009;0.037 B;B 0.15052 0.01;0.012 T 0.22556 -1.0213 10 0.36615 T 0.2 -6.0548 6.2585 0.20887 0.0:0.1964:0.1235:0.6801 rs3744997;rs52832406;rs56493294;rs3744997 1131;1131 Q9HCE0-2;Q9HCE0 .;EPG5_HUMAN V 1131;6 ENSP00000282041:I1131V ENSP00000282041:I1131V I - 1 0 EPG5 41750163 1.000000 0.71417 0.995000 0.50966 0.917000 0.54804 1.434000 0.34958 0.116000 0.18110 0.459000 0.35465 ATA NOVEL EPG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445081.1 0 9.628503 KEEP 0 0 0 32 998 TT 0.999997 0.999859 0 - 4 60 141 0 0 8.892265 87 60 3238 159 ENST00000282041.5 0.043956 0.999862 EPG5 57724 __UNKNOWN__ __UNKNOWN__ 18 43497710 43497710 __UNKNOWN__ Missense_Mutation SNP A A G rs3744998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43497710A>G ENST00000282041.5 - 17 3207 c.3173T>C c.(3172-3174)gTt>gCt p.V1058A NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1058 NA V -> A (in dbSNP:rs3744998). autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 CAGGACATGAACCACTGTTCT 0.428 NA A||| 2138 0.426917 0.2602 0.4222 5008 , , NA 19656 0.5734 NA 0.5497 False NA ,,, NA NA NA 2504 0.3783 NA NA NA NA 0 A ALA/VAL 1105,2665 167,771,947 146 133 137 3173 5.4 1 18 dbSNP_107 137 4654,3582 1314,2026,778 yes missense EPG5 NM_020964.2 64 1481,2797,1725 GG,GA,AA 43.492,29.3103,47.9677 possibly-damaging 1058/2580 43497710 5759,6247 1885 4118 6003 SO:0001583 missense AK023817 CCDS11926.2 18q12.3 2011-03-02 2011-03-02 2011-03-02 ENSG00000152223 ENSG00000152223 57724 29331 protein-coding gene gene with protein product 615068 KIAA1632 KIAA1632 NA 10997877, 20550938 Standard NM_020964 XM_005258323 NA Approved hEPG5 uc002lbm.3 Q9HCE0 OTTHUMG00000132626 ENST00000282041.5:c.3173T>C chr18.hg19:g.43497710A>G ENSP00000282041:p.Val1058Ala NA A2BDF3|Q9H8C8 hg19 CCDS11926.2 0.02 7.503918 TGAxCCA COVERED 1064 0.48717948717948717 152 0.3089430894308943 173 0.47790055248618785 319 0.5576923076923077 420 0.554089709762533 A 18.53 3.644132 0.67244 0.293103 0.56508 ENSG00000152223 ENST00000282041 T 0.14766 2.48 5.4 5.4 0.78164 . 0.070420 0.56097 D 0.000033 T 0.00012 0.0000 L 0.59436 1.845 0.09310 P 0.999999702798 P;P 0.46784 0.884;0.884 P;P 0.50270 0.636;0.636 T 0.46105 -0.9215 9 0.72032 D 0.01 -19.2166 15.712 0.77635 1.0:0.0:0.0:0.0 rs3744998;rs52828024;rs60404107;rs3744998 1058;1058 Q9HCE0-2;Q9HCE0 .;EPG5_HUMAN A 1058 ENSP00000282041:V1058A ENSP00000282041:V1058A V - 2 0 EPG5 41751708 1.000000 0.71417 1.000000 0.80357 0.526000 0.34562 6.681000 0.74523 2.178000 0.69098 0.533000 0.62120 GTT NOVEL EPG5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445081.1 1 10.53217 KEEP 0 0 0 35 1142 AA 0.999999 0.999999 0 - 9 60 361 0 0 24.68327 180 60 6393 275 ENST00000282041.5 0.047619 1 PSTPIP2 9050 __UNKNOWN__ __UNKNOWN__ 18 43564927 43564927 __UNKNOWN__ 3'UTR SNP G G C rs1438388 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43564927G>C ENST00000409746.5 - 0 1574 PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_3'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 ttcctcatctgtaaaatgaga 0.433 NA G||| 1556 0.310703 0.5953 0.2176 5008 , , NA 19318 0.4038 NA 0.1292 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32820.2 18q12 2008-07-28 ENSG00000152229 ENSG00000152229 9050 9581 protein-coding gene gene with protein product NA 9804817 Standard NM_024430 NA Approved uc002lbp.4 Q9H939 OTTHUMG00000152674 ENST00000409746.5:c.*498C>G chr18.hg19:g.43564927G>C NA hg19 CCDS32820.2 0.02 4.802465 TCTxTAA COVERED NOVEL PSTPIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327522.1 0 4.815469 KEEP 0 0 0 16 555 GG 0.997832 0.997832 0 - 9 60 349 0 0 24.5478 136 60 5174 189 ENST00000409746.5 0.062069 1 PSTPIP2 9050 __UNKNOWN__ __UNKNOWN__ 18 43565195 43565195 __UNKNOWN__ 3'UTR SNP G G T rs1048827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43565195G>T ENST00000409746.5 - 0 1306 PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_3'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 AACTGGGAAAGAATAATTCTT 0.373 NA G||| 1514 0.302316 0.5726 0.2161 5008 , , NA 19889 0.3938 NA 0.1282 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS32820.2 18q12 2008-07-28 ENSG00000152229 ENSG00000152229 9050 9581 protein-coding gene gene with protein product NA 9804817 Standard NM_024430 NA Approved uc002lbp.4 Q9H939 OTTHUMG00000152674 ENST00000409746.5:c.*230C>A chr18.hg19:g.43565195G>T NA hg19 CCDS32820.2 0.02 6.612869 AAAxAAT COVERED NOVEL PSTPIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327522.1 1 4.815497 KEEP 0 0 0 16 552 GG 0.997832 0.997832 0 - 8 60 292 0 0 19.365918 146 60 5464 187 ENST00000409746.5 0.051948 1 PSTPIP2 9050 __UNKNOWN__ __UNKNOWN__ 18 43565380 43565380 __UNKNOWN__ 3'UTR SNP A A G rs57589400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43565380A>G ENST00000409746.5 - 0 1121 PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_3'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TGCCCTTTCCATATCACAGAA 0.393 NA A||| 1561 0.311701 0.5953 0.2176 5008 , , NA 17181 0.4058 NA 0.1292 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 A 2258,2148 593.8+/-388.1 564,1130,509 70 74 72 -2.4 0 18 dbSNP_129 72 1112,7488 230.1+/-264.6 77,958,3265 no utr-3 PSTPIP2 NM_024430.3 641,2088,3774 GG,GA,AA 12.9302,48.7517,25.9111 43565380 3370,9636 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32820.2 18q12 2008-07-28 ENSG00000152229 ENSG00000152229 9050 9581 protein-coding gene gene with protein product NA 9804817 Standard NM_024430 NA Approved uc002lbp.4 Q9H939 OTTHUMG00000152674 ENST00000409746.5:c.*45T>C chr18.hg19:g.43565380A>G NA hg19 CCDS32820.2 0.02 21.699686 TCCxTAT COVERED NOVEL PSTPIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327522.1 4 24.073539 KEEP 0 0 0 80 2567 AA 1 1 0 - 14 60 523 1 0 31.006573 507 60 19048 799 ENST00000409746.5 0.026871 1 PSTPIP2 9050 __UNKNOWN__ __UNKNOWN__ 18 43565399 43565399 __UNKNOWN__ 3'UTR SNP C C A rs58786055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43565399C>A ENST00000409746.5 - 0 1102 PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.G312C NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) p.G312C(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 AAGCACTAGCCGGAAAAAGCT 0.408 NA c||| 1547 0.308906 0.5953 0.2176 5008 , , NA 16478 0.3948 NA 0.1292 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T 2255,2151 593.4+/-388.0 564,1127,512 69 72 71 -5.9 0 18 dbSNP_129 71 1112,7488 230.1+/-264.6 77,958,3265 no utr-3 PSTPIP2 NM_024430.3 641,2085,3777 AA,AC,CC 12.9302,48.8198,25.8881 43565399 3367,9639 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS32820.2 18q12 2008-07-28 ENSG00000152229 ENSG00000152229 9050 9581 protein-coding gene gene with protein product NA 9804817 Standard NM_024430 NA Approved uc002lbp.4 Q9H939 OTTHUMG00000152674 ENST00000409746.5:c.*26G>T chr18.hg19:g.43565399C>A NA hg19 CCDS32820.2 0.02 19.295702 AGCxGGA COVERED 697 0.3191391941391941 275 0.5589430894308943 79 0.21823204419889503 242 0.4230769230769231 101 0.13324538258575197 c 0.013 -1.629976 0.00813 0.511802 0.129302 ENSG00000152229 ENST00000360076 . . . 5.16 -5.93 0.02254 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 D 0.55605 0.972 P 0.48368 0.575 T 0.20240 -1.0281 6 0.87932 D 0 . 13.3608 0.60654 0.0:0.2885:0.0:0.7115 rs58786055;rs61749947 312 Q9H939-2 . C 312 . ENSP00000353189:G312C G - 1 0 PSTPIP2 41819397 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -2.169000 0.01269 -1.137000 0.02888 -0.745000 0.03516 GGC NOVEL PSTPIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327522.1 5 23.775732 KEEP 0 0 0 79 2671 CC 1 1 0 - 12 60 442 0 0 25.728984 454 60 15696 710 ENST00000409746.5 0.025751 1 PSTPIP2 9050 __UNKNOWN__ __UNKNOWN__ 18 43568593 43568593 __UNKNOWN__ Intron SNP T T G rs3844540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43568593T>G ENST00000409746.5 - 14 1085 PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Intron NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 NA NA cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 GTGTTATAAATAAGGTTCAAA 0.423 NA G||| 1473 0.294129 0.5363 0.2118 5008 , , NA 19259 0.4018 NA 0.1292 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32820.2 18q12 2008-07-28 ENSG00000152229 ENSG00000152229 9050 9581 protein-coding gene gene with protein product NA 9804817 Standard NM_024430 NA Approved uc002lbp.4 Q9H939 OTTHUMG00000152674 ENST00000409746.5:c.1002+74A>C chr18.hg19:g.43568593T>G NA hg19 CCDS32820.2 0.02 10.269959 AAAxAAG COVERED NOVEL PSTPIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327522.1 2 7.820179 KEEP 0 0 0 26 754 TT 0.999957 0.999957 0 - 8 60 287 0 0 16.61815 283 60 10389 349 ENST00000409746.5 0.027491 1 PSTPIP2 9050 __UNKNOWN__ __UNKNOWN__ 18 43568717 43568717 __UNKNOWN__ Missense_Mutation SNP T T C rs2276199 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:43568717T>C ENST00000409746.5 - 14 1035 c.964A>G c.(964-966)Aat>Gat p.N322D PSTPIP2_ENST00000588801.1_Intron|PSTPIP2_ENST00000589328.1_Silent_p.P289P NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 322 NA N -> D (in dbSNP:rs2276199).|N -> S (in dbSNP:rs16978507). cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) p.P289P(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 AAAGAGTAATTGGGATCATCT 0.348 NA C||| 1558 0.311102 0.5855 0.2176 5008 , , NA 20910 0.4127 NA 0.1312 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C ASP/ASN 2251,2155 582.3+/-385.5 566,1119,518 100 95 96 964 4.9 0.7 18 dbSNP_100 96 1128,7472 766.9+/-407.6 81,966,3253 yes missense PSTPIP2 NM_024430.3 23 647,2085,3771 CC,CT,TT 13.1163,48.9106,25.9803 benign 322/335 43568717 3379,9627 2203 4300 6503 SO:0001583 missense CCDS32820.2 18q12 2008-07-28 ENSG00000152229 ENSG00000152229 9050 9581 protein-coding gene gene with protein product NA 9804817 Standard NM_024430 NA Approved uc002lbp.4 Q9H939 OTTHUMG00000152674 ENST00000409746.5:c.964A>G chr18.hg19:g.43568717T>C ENSP00000387261:p.Asn322Asp NA hg19 CCDS32820.2 0.02 17.454809 AATxGGG COVERED 702 0.32142857142857145 273 0.5548780487804879 79 0.21823204419889503 249 0.4353146853146853 101 0.13324538258575197 C 0.185 -1.058452 0.01950 0.510894 0.131163 ENSG00000152229 ENST00000409746 T 0.33865 1.39 5.74 4.87 0.63330 . 0.393817 0.28082 N 0.016664 T 0.00012 0.0000 N 0.00197 -1.87 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.46261 -0.9204 9 0.05525 T 0.97 . 8.9937 0.36039 0.0:0.8302:0.0:0.1698 rs2276199;rs3842867;rs52835505;rs60806783;rs2276199 322 Q9H939 PPIP2_HUMAN D 322 ENSP00000387261:N322D ENSP00000387261:N322D N - 1 0 PSTPIP2 41822715 0.980000 0.34600 0.674000 0.29902 0.002000 0.02628 1.864000 0.39469 0.788000 0.33755 -0.128000 0.14901 AAT NOVEL PSTPIP2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000327522.1 2 15.947902 KEEP 0 0 0 53 1670 TT 1 1 0 - 16 60 551 0 0 32.08206 479 60 17698 677 ENST00000409746.5 0.032323 1 PIAS2 9063 __UNKNOWN__ __UNKNOWN__ 18 44395368 44395368 __UNKNOWN__ Intron SNP T T C rs3737448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:44395368T>C ENST00000585916.1 - 13 1648 NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 NA NA androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351) nuclear body (GO:0016604)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 ACCAGAATTATTTCCCTAAAT 0.343 NA T||| 193 0.0385383 0.0008 0.0 5008 , , NA 17618 0.1498 NA 0.001 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 101 94 96 NA NA 18 NA 44395368 692 1590 2282 SO:0001627 intron_variant AF077953 CCDS32824.1, CCDS32825.1 18q12.1-q12.3 2011-10-11 ENSG00000078043 9063 Zinc fingers, MIZ-type 17311 protein-coding gene gene with protein product zinc finger, MIZ-type containing 4 603567 NA 9724754, 9256341 Standard NM_004671 NM_004671 NA Approved PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4 uc002lck.3 O75928 ENST00000585916.1:c.1649-56A>G chr18.hg19:g.44395368T>C NA O75927|Q96BT5|Q96KE3 hg19 CCDS32824.1 0.02 1.95674 TTAxTTC COVERED NOVEL PIAS2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000445656.2 0 3.009189 KEEP 0 0 0 10 316 TT 0.992708 0.990279 0 - 4 60 136 0 0 8.807184 68 60 2487 102 ENST00000585916.1 0.055556 0.997553 IER3IP1 51124 __UNKNOWN__ __UNKNOWN__ 18 44682023 44682023 __UNKNOWN__ 3'UTR SNP A A G rs16949034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:44682023A>G ENST00000256433.3 - 0 870 IER3IP1_ENST00000588705.1_Intron NM_016097.4 NP_057181.1 immediate early response 3 interacting protein 1 NA NA large_intestine(1) 1 ATTTGAATTTATAGCTGAGAC 0.239 NA A||| 364 0.0726837 0.0015 0.062 5008 , , NA 16021 0.2718 NA 0.0209 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF371963 CCDS11933.1 18q12 2006-06-23 ENSG00000134049 ENSG00000134049 51124 18550 protein-coding gene gene with protein product 609382 NA 15276200 Standard NM_016097 NM_016097 NA Approved uc002lcu.3 Q9Y5U9 OTTHUMG00000132650 ENST00000256433.3:c.*525T>C chr18.hg19:g.44682023A>G NA hg19 CCDS11933.1 0.02 6.757383 TTTxTAG COVERED NOVEL IER3IP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255901.1 0 8.425356 KEEP 0 0 0 28 875 AA 0.999997 0.999997 0 - 7 60 263 0 0 16.742212 176 60 6434 248 ENST00000256433.3 0.038251 1 SMAD2 4087 __UNKNOWN__ __UNKNOWN__ 18 45360991 45360991 __UNKNOWN__ 3'UTR SNP A A G rs1981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:45360991A>G ENST00000402690.2 - 0 9005 SMAD2_ENST00000356825.4_3'UTR|SMAD2_ENST00000262160.6_3'UTR NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 NA NA activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352) activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 TAAGCTTGCTAAAAGGCTAGG 0.373 NA A||| 3089 0.616813 0.4531 0.6542 5008 , , NA 18201 0.8135 NA 0.5348 False NA ,,, NA NA NA 2504 0.6933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U65019 CCDS11934.1 18q21 2006-11-06 2006-11-06 2004-05-26 ENSG00000175387 ENSG00000175387 4087 SMADs 6768 protein-coding gene gene with protein product 601366 MAD, mothers against decapentaplegic homolog 2 (Drosophila), SMAD, mothers against DPP homolog 2 (Drosophila) MADH2 NA 8752209, 8673135 Standard NM_005901 NM_001003652 NA Approved MADR2, JV18-1 uc002lcz.4 Q15796 OTTHUMG00000132652 ENST00000402690.2:c.*7207T>C chr18.hg19:g.45360991A>G NA hg19 CCDS11934.1 0.02 7.612021 GCTxAAA COVERED NOVEL SMAD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450571.1 0 7.521324 KEEP 0 0 0 25 750 AA 0.999931 0.999931 0 - 8 60 319 0 0 22.06408 146 70 5131 202 ENST00000402690.2 0.051948 1 SMAD2 4087 __UNKNOWN__ __UNKNOWN__ 18 45362194 45362194 __UNKNOWN__ 3'UTR SNP T T C rs1792671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:45362194T>C ENST00000402690.2 - 0 7802 SMAD2_ENST00000356825.4_3'UTR|SMAD2_ENST00000262160.6_3'UTR NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 NA NA activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352) activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 CCATCTTTAATTAAAAATAAG 0.229 NA T||| 3098 0.61861 0.4614 0.6542 5008 , , NA 15582 0.8135 NA 0.5338 False NA ,,, NA NA NA 2504 0.6922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U65019 CCDS11934.1 18q21 2006-11-06 2006-11-06 2004-05-26 ENSG00000175387 ENSG00000175387 4087 SMADs 6768 protein-coding gene gene with protein product 601366 MAD, mothers against decapentaplegic homolog 2 (Drosophila), SMAD, mothers against DPP homolog 2 (Drosophila) MADH2 NA 8752209, 8673135 Standard NM_005901 NM_001003652 NA Approved MADR2, JV18-1 uc002lcz.4 Q15796 OTTHUMG00000132652 ENST00000402690.2:c.*6004A>G chr18.hg19:g.45362194T>C NA hg19 CCDS11934.1 0.02 4.393046 TAAxTAA COVERED NOVEL SMAD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450571.1 1 12.636258 KEEP 0 0 0 42 1315 TT 1 0.999995 0 - 6 60 222 0 0 14.904943 106 60 3850 205 ENST00000402690.2 0.053571 0.999995 SMAD2 4087 __UNKNOWN__ __UNKNOWN__ 18 45363214 45363214 __UNKNOWN__ 3'UTR SNP A A T rs1792666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:45363214A>T ENST00000402690.2 - 0 6782 SMAD2_ENST00000356825.4_3'UTR|SMAD2_ENST00000262160.6_3'UTR NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 NA NA activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352) activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667) activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 CCAAGAGATAATTTGCCCCTC 0.343 NA A||| 2159 0.43111 0.2277 0.3415 5008 , , NA 18591 0.6151 NA 0.4404 False NA ,,, NA NA NA 2504 0.5706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U65019 CCDS11934.1 18q21 2006-11-06 2006-11-06 2004-05-26 ENSG00000175387 ENSG00000175387 4087 SMADs 6768 protein-coding gene gene with protein product 601366 MAD, mothers against decapentaplegic homolog 2 (Drosophila), SMAD, mothers against DPP homolog 2 (Drosophila) MADH2 NA 8752209, 8673135 Standard NM_005901 NM_001003652 NA Approved MADR2, JV18-1 uc002lcz.4 Q15796 OTTHUMG00000132652 ENST00000402690.2:c.*4984T>A chr18.hg19:g.45363214A>T NA hg19 CCDS11934.1 0.02 6.062088 ATAxTTT COVERED NOVEL SMAD2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450571.1 0 10.766143 KEEP 0 1 32 47 1493 AA 1 1 0 - 7 60 255 0 0 15.762504 187 60 6945 299 ENST00000402690.2 0.036082 1 ZBTB7C 201501 __UNKNOWN__ __UNKNOWN__ 18 45566669 45566669 __UNKNOWN__ Silent SNP C C T rs61729533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:45566669C>T ENST00000588982.1 - 3 1311 c.810G>A c.(808-810)ctG>ctA p.L270L ZBTB7C_ENST00000332053.2_Silent_p.L270L|ZBTB7C_ENST00000535628.2_Silent_p.L270L|ZBTB7C_ENST00000590800.1_Silent_p.L270L|ZBTB7C_ENST00000586438.1_Silent_p.L270L A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 270 NA metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCTGCTCAGGCAGCTGGGCAA 0.622 NA C||| 105 0.0209665 0.0 0.0144 5008 , , NA 17050 0.0873 NA 0.006 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 6,4398 0,6,2196 35 39 37 810 5.3 1 18 dbSNP_129 37 10,8588 0,10,4289 no coding-synonymous ZBTB7C NM_001039360.2 0,16,6485 TT,TC,CC 0.1163,0.1362,0.1231 270/620 45566669 16,12986 2202 4299 6501 SO:0001819 synonymous_variant Y14591 CCDS32830.1 18q21.1 2013-01-08 2005-04-07 ENSG00000184828 ENSG00000184828 201501 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 31700 protein-coding gene gene with protein product zinc finger and BTB domain containing 36 ZBTB36 NA Standard NM_001039360 NM_001039360 NA Approved ZNF857C uc002ldb.3 A1YPR0 ENST00000588982.1:c.810G>A chr18.hg19:g.45566669C>T NA O73453 hg19 CCDS32830.1 0.02 9.930244 AGGxAGC COVERED NOVEL ZBTB7C-025 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450731.1 2 16.528023 KEEP 0 0 0 55 1963 CC 1 1 0 - 9 60 320 0 0 19.0968 266 60 9938 399 ENST00000588982.1 0.032727 1 CTIF 9811 __UNKNOWN__ __UNKNOWN__ 18 46384073 46384073 __UNKNOWN__ Intron SNP A A G rs937021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:46384073A>G ENST00000256413.3 + 11 1876 CTIF_ENST00000382998.4_Intron NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor NA NA nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446) cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 ATGCCTTAACAGTTCTAGGGG 0.522 NA A||| 1931 0.385583 0.5545 0.4683 5008 , , NA 20797 0.2292 NA 0.4573 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 A , 754,630 211,332,149 94 75 81 , 1.4 0 18 dbSNP_86 81 1538,1644 373,792,426 no intron,intron CTIF NM_001142397.1,NM_014772.2 , 584,1124,575 GG,GA,AA 48.3344,45.5202,49.8029 , , 46384073 2292,2274 692 1591 2283 SO:0001627 intron_variant AB007887 CCDS11935.1, CCDS45864.1 18q21.1 2011-01-20 2011-01-20 2011-01-20 ENSG00000134030 ENSG00000134030 9811 23925 protein-coding gene gene with protein product 613178 KIAA0427 KIAA0427 NA 9455477, 19648179 Standard NM_014772 NM_014772 NA Approved uc002ldd.3 O43310 OTTHUMG00000132656 ENST00000256413.3:c.1581+61A>G chr18.hg19:g.46384073A>G NA B3KTR8|Q8IVD5 hg19 CCDS11935.1 0.02 5.779866 AACxGTT COVERED NOVEL CTIF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255907.1 1 9.324906 KEEP 0 0 0 31 915 AA 0.999997 0.999997 0 + 7 60 240 0 0 14.903776 151 60 5585 219 ENST00000256413.3 0.044304 1 SMAD7 4092 __UNKNOWN__ __UNKNOWN__ 18 46446589 46446589 __UNKNOWN__ 3'UTR SNP T T C rs16950113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:46446589T>C ENST00000262158.2 - 0 2720 NM_001190821.1|NM_005904.3 NP_001177750.1|NP_005895.1 O15105 SMAD7_HUMAN SMAD family member 7 NA NA adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667) activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 10 Colorectal(1;0.0518) CTCTTGTTCATTTAAACCTTT 0.323 NA T||| 466 0.0930511 0.0454 0.0331 5008 , , NA 16115 0.128 NA 0.0348 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF010193 CCDS11936.1, CCDS54186.1, CCDS59317.1 18q21.1 2006-11-06 2006-11-06 2004-05-26 ENSG00000101665 ENSG00000101665 4092 SMADs 6773 protein-coding gene gene with protein product 602932 MAD, mothers against decapentaplegic homolog 7 (Drosophila), SMAD, mothers against DPP homolog 7 (Drosophila) MADH8, MADH7 NA 9256479, 9730599 Standard NM_005904 NM_005904 NA Approved uc002ldg.3 O15105 OTTHUMG00000132655 ENST00000262158.2:c.*1153A>G chr18.hg19:g.46446589T>C NA B7Z773|K7EQ10|O14740|Q6DK23 hg19 CCDS11936.1 0.02 4.370006 TCAxTTA COVERED NOVEL SMAD7-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000255906.1 0 11.736235 KEEP 0 0 0 39 1275 TT 1 0.999999 0 - 6 60 215 0 0 13.892362 120 60 4482 209 ENST00000262158.2 0.047619 1 RPL17-C18orf32 100526842 __UNKNOWN__ __UNKNOWN__ 18 47013723 47013723 __UNKNOWN__ Intron SNP A A T rs6417105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47013723A>T ENST00000584895.1 - 5 522 RPL17-C18orf32_ENST00000332968.6_Intron|MIR1539_ENST00000581232.1_RNA NM_001199355.1|NM_001199356.1 NP_001186284.1|NP_001186285.1 RPL17-C18orf32 readthrough NA NA NA GTGTTGCCCAAGGGGCGCGGC 0.662 NA N||| 2279 0.455072 0.5983 0.4841 5008 , , NA 15840 0.4147 NA 0.3628 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 - , 747,637 196,355,141 17 26 24 , -1 0 18 dbSNP_116 24 1091,2091 196,699,696 no intron,intron RPL17-C18ORF32 NM_001199355.1,NM_001199356.1 , 392,1054,837 TT,TA,AA 34.2866,46.026,40.2541 , , 47013723 1838,2728 692 1591 2283 SO:0001627 intron_variant CCDS58622.1, CCDS62443.1 18q21.1 2012-12-12 ENSG00000215472 ENSG00000215472 100526842 44661 other readthrough NA Standard NM_001199355 NA Approved uc002ldm.2 OTTHUMG00000179689 ENST00000584895.1:c.507+2005T>A chr18.hg19:g.47013723A>T NA hg19 CCDS58622.1 0.02 6.170783 CCAxGGG COVERED NOVEL RPL17-C18orf32-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000447657.2 3 26.814043 KEEP 0 1 31 100 3148 AA 1 1 0 - 8 60 261 0 0 15.616963 185 60 6547 331 ENST00000584895.1 0.041451 1 RPL17-C18orf32 100526842 __UNKNOWN__ __UNKNOWN__ 18 47016046 47016046 __UNKNOWN__ Intron SNP A A G rs6507920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47016046A>G ENST00000584895.1 - 5 330 RPL17_ENST00000580261.1_Intron|RPL17_ENST00000581373.1_Intron|RPL17_ENST00000579248.1_Intron|RPL17_ENST00000579408.1_Intron|RPL17-C18orf32_ENST00000332968.6_Intron|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000418495.1_Intron|RPL17_ENST00000580210.1_Intron|RPL17_ENST00000581091.1_Intron NM_001199355.1|NM_001199356.1 NP_001186284.1|NP_001186285.1 RPL17-C18orf32 readthrough NA NA NA AATCATTTTTAAAAGGCAATC 0.363 NA G||| 2353 0.469848 0.5628 0.5331 5008 , , NA 22016 0.4157 NA 0.4394 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS58622.1, CCDS62443.1 18q21.1 2012-12-12 ENSG00000215472 ENSG00000215472 100526842 44661 other readthrough NA Standard NM_001199355 NA Approved uc002ldm.2 OTTHUMG00000179689 ENST00000584895.1:c.316-126T>C chr18.hg19:g.47016046A>G NA hg19 CCDS58622.1 0.02 2.006834 TTTxAAA COVERED NOVEL RPL17-C18orf32-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000447657.2 0 8.420528 KEEP 0 0 0 28 774 AA 0.999997 0.999801 0 - 4 60 152 0 0 10.023638 85 60 3016 117 ENST00000584895.1 0.044944 0.999804 RPL17-C18orf32 100526842 __UNKNOWN__ __UNKNOWN__ 18 47017820 47017820 __UNKNOWN__ Intron SNP A A G rs1943676 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47017820A>G ENST00000584895.1 - 2 55 RPL17_ENST00000580261.1_Intron|RPL17_ENST00000581373.1_Intron|RPL17_ENST00000579248.1_Intron|RPL17_ENST00000579408.1_Intron|RPL17-C18orf32_ENST00000332968.6_Intron|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000418495.1_Intron|RPL17_ENST00000580210.1_Intron|RPL17_ENST00000581091.1_Intron NM_001199355.1|NM_001199356.1 NP_001186284.1|NP_001186285.1 RPL17-C18orf32 readthrough NA NA NA TGCATGCTAGAAAATAAAACG 0.408 NA A||| 1834 0.366214 0.2882 0.4539 5008 , , NA 20458 0.4147 NA 0.3628 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 A ,,,,,,,,, 1054,2632 144,766,933 161 154 156 ,,,,,,,,, 2.6 0 18 dbSNP_92 156 2772,5436 461,1850,1793 no intron,intron,intron,intron,intron,intron,intron,intron,intron,intron RPL17,RPL17-C18ORF32 NM_000985.4,NM_001035006.2,NM_001199340.1,NM_001199341.1,NM_001199342.1,NM_001199343.1,NM_001199344.1,NM_001199345.1,NM_001199355.1,NM_001199356.1 ,,,,,,,,, 605,2616,2726 GG,GA,AA 33.7719,28.5947,32.1675 ,,,,,,,,, ,,,,,,,,, 47017820 3826,8068 1843 4104 5947 SO:0001627 intron_variant CCDS58622.1, CCDS62443.1 18q21.1 2012-12-12 ENSG00000215472 ENSG00000215472 100526842 44661 other readthrough NA Standard NM_001199355 NA Approved uc002ldm.2 OTTHUMG00000179689 ENST00000584895.1:c.41-5T>C chr18.hg19:g.47017820A>G NA hg19 CCDS58622.1 0.02 4.496648 TAGxAAA COVERED NOVEL RPL17-C18orf32-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000447657.2 0 12.636761 KEEP 0 0 0 42 1316 AA 1 0.999999 0 - 5 60 188 0 0 12.108539 118 60 4212 197 ENST00000584895.1 0.04065 0.999999 LIPG 9388 __UNKNOWN__ __UNKNOWN__ 18 47093864 47093864 __UNKNOWN__ Missense_Mutation SNP C C T rs2000813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47093864C>T ENST00000427224.2 + 3 581 c.332C>T c.(331-333)aCa>aTa p.T111I LIPG_ENST00000577628.1_Missense_Mutation_p.T147I|LIPG_ENST00000261292.4_Missense_Mutation_p.T111I|LIPG_ENST00000580036.1_Missense_Mutation_p.T111I Q9Y5X9 LIPE_HUMAN lipase, endothelial 111 NA T -> I (in dbSNP:rs2000813). {ECO:0000269|PubMed:12966036}. cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691) extracellular space (GO:0005615) heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620) autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2) 18 GCCCTGCACACAAGAGAGAAA 0.493 NA C||| 1205 0.240615 0.0673 0.2277 5008 , , NA 16337 0.3274 NA 0.3022 False NA ,,, NA NA NA 2504 0.3313 NA NA NA Pancreas(126;280 1778 12814 26243 34948) NA 0 GRCh37 CM077882 LIPG M rs2000813 C ILE/THR 473,3933 225.2+/-241.2 20,433,1750 88 75 79 332 -3.7 0.2 18 dbSNP_92 79 2506,6094 410.5+/-350.2 364,1778,2158 yes missense LIPG NM_006033.2 89 384,2211,3908 TT,TC,CC 29.1395,10.7354,22.9048 benign 111/501 47093864 2979,10027 2203 4300 6503 SO:0001583 missense AF118767 CCDS11938.1 18q21.1 2006-04-22 ENSG00000101670 9388 6623 protein-coding gene gene with protein product 603684 NA 10318835, 10192396 Standard NM_006033 XM_005258390 NA Approved EDL uc002ldv.3 Q9Y5X9 ENST00000427224.2:c.332C>T chr18.hg19:g.47093864C>T ENSP00000387978:p.Thr111Ile NA B0LPG6|Q6P9C8|Q6UW82 hg19 0.02 6.404091 ACAxAAG COVERED 532 0.24358974358974358 29 0.05894308943089431 101 0.27900552486187846 182 0.3181818181818182 220 0.29023746701846964 C 10.03 1.238711 0.22711 0.107354 0.291395 ENSG00000101670 ENST00000261292;ENST00000427224 D;D 0.90444 -2.67;-2.67 5.13 -3.65 0.04502 Lipase, N-terminal (1); 0.762883 0.13306 N 0.397833 T 0.00012 0.0000 N 0.12853 0.265 0.80722 P 0.0 B;B;B 0.12013 0.005;0.003;0.002 B;B;B 0.11329 0.006;0.006;0.004 T 0.07539 -1.0767 9 0.49607 T 0.09 -23.8984 5.0178 0.14345 0.372:0.2221:0.0:0.4059 rs2000813;rs3786250;rs52802490;rs56604138;rs58046713;rs2000813 111;111;111 B4DTR8;Q9Y5X9;Q9Y5X9-2 .;LIPE_HUMAN;. I 111 ENSP00000261292:T111I;ENSP00000387978:T111I ENSP00000261292:T111I T + 2 0 LIPG 45347862 0.013000 0.17824 0.170000 0.22879 0.332000 0.28634 0.406000 0.21032 -0.342000 0.08363 0.561000 0.74099 ACA NOVEL LIPG-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000447547.1 4 9.631764 KEEP 0 0 0 32 1162 CC 0.999997 0.999997 0 + 8 60 285 0 0 18.646264 147 60 5639 238 ENST00000427224.2 0.051613 1 MYO5B 4645 __UNKNOWN__ __UNKNOWN__ 18 47369758 47369758 __UNKNOWN__ Silent SNP C C T rs2276170 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47369758C>T ENST00000285039.7 - 34 4763 c.4464G>A c.(4462-4464)ttG>ttA p.L1488L MYO5B_ENST00000324581.6_Silent_p.L603L|MYO5B_ENST00000592688.1_Silent_p.L58L|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1488 NA endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833) apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234) ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTGGGGCTTCAAGTCTAAGG 0.522 NA C||| 720 0.14377 0.053 0.2839 5008 , , NA 20316 0.2748 NA 0.0507 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 C 186,3894 2,182,1856 68 68 68 4464 4.9 1 18 dbSNP_100 68 425,7959 13,399,3780 no coding-synonymous MYO5B NM_001080467.2 15,581,5636 TT,TC,CC 5.0692,4.5588,4.9021 1488/1849 47369758 611,11853 2040 4192 6232 SO:0001819 synonymous_variant AB032945 CCDS42436.1 18q 2011-09-27 ENSG00000167306 ENSG00000167306 4645 Myosins / Myosin superfamily : Class V 7603 protein-coding gene gene with protein product 606540 NA 8884266, 17462998 Standard NM_001080467 NA Approved KIAA1119 uc002leb.2 Q9ULV0 ENST00000285039.7:c.4464G>A chr18.hg19:g.47369758C>T NA B0I1R3|Q0P656|Q9H6Y6 hg19 CCDS42436.1 0.02 15.107763 CTTxAAG COVERED NOVEL MYO5B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000448515.2 1 21.971527 KEEP 0 0 0 73 2599 CC 1 1 0 - 17 60 617 0 0 39.730378 360 60 13874 592 ENST00000285039.7 0.045093 1 CCDC11 0 __UNKNOWN__ __UNKNOWN__ 18 47777937 47777937 __UNKNOWN__ Missense_Mutation SNP G G A rs12607385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47777937G>A ENST00000398545.4 - 4 808 c.691C>T c.(691-693)Cgc>Tgc p.R231C NM_145020.3 NP_659457.2 NA NA endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) AGCCCCAGGCGTGTGTTCTCC 0.547 NA G||| 621 0.124002 0.0023 0.1744 5008 , , NA 20257 0.4256 NA 0.007 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 G CYS/ARG 20,4094 0,20,2037 134 135 135 691 1.3 0.9 18 dbSNP_120 135 32,8358 0,32,4163 yes missense CCDC11 NM_145020.3 180 0,52,6200 AA,AG,GG 0.3814,0.4861,0.4159 probably-damaging 231/515 47777937 52,12452 2057 4195 6252 SO:0001583 missense NA NA NA NA ENST00000398545.4:c.691C>T chr18.hg19:g.47777937G>A ENSP00000381553:p.Arg231Cys NA hg19 CCDS11940.2 0.02 10.986124 GGCxTGT COVERED 318 0.14560439560439561 2 0.0040650406504065045 44 0.12154696132596685 265 0.4632867132867133 7 0.009234828496042216 G 14.73 2.621835 0.46840 0.004861 0.003814 ENSG00000172361 ENST00000398545 T 0.12569 2.67 5.32 1.26 0.21427 . 0.608903 0.17170 N 0.184326 T 0.00012 0.0000 L 0.54323 1.7 0.54753 P 1.3000000000040757E-5 B 0.25521 0.128 B 0.20767 0.031 T 0.44544 -0.9321 9 0.51188 T 0.08 -0.8366 4.5701 0.12205 0.0855:0.2739:0.5006:0.1399 rs12607385;rs58876751;rs12607385 231 Q96M91 CCD11_HUMAN C 231 ENSP00000381553:R231C ENSP00000381553:R231C R - 1 0 CCDC11 46031935 0.918000 0.31147 0.897000 0.35233 0.673000 0.39480 1.299000 0.33424 0.623000 0.30267 -0.175000 0.13238 CGC NOVEL CCDC11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255922.3 1 9.859993 KEEP 0 1 32 44 1440 GG 1 1 0 - 10 60 368 0 0 22.675884 281 60 9656 405 ENST00000398545.4 0.034364 1 MBD1 4152 __UNKNOWN__ __UNKNOWN__ 18 47801853 47801853 __UNKNOWN__ Intron SNP A A G rs570655729 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47801853A>G ENST00000590208.1 - 8 1139 MBD1_ENST00000269468.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000591416.1_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000457839.2_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000585595.1_Intron NM_001204136.1 NP_001191065.1 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CAGAAAGGCGAGCATAGGGTT 0.577 NA A||| 1 0.000199681 0.0 0.0 5008 , , NA 17890 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 12 12 12 NA NA 18 NA 47801853 875 1987 2862 SO:0001627 intron_variant Y10746 CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1 18q21 2014-02-18 ENSG00000141644 ENSG00000141644 4152 6916 protein-coding gene gene with protein product 156535 NA 9207790, 10441743 Standard NM_015846 NM_015844 NA Approved PCM1, CXXC3 uc002lem.4 Q9UIS9 OTTHUMG00000132669 ENST00000590208.1:c.792+116T>C chr18.hg19:g.47801853A>G NA A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9 hg19 CCDS59320.1 0.02 5.763281 GCGxGCA COVERED NOVEL MBD1-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000448756.2 2 6.013922 KEEP 0 0 0 20 585 AA 0.999863 0.999863 0 - 9 60 263 0 0 15.473393 163 60 5271 203 ENST00000590208.1 0.052326 1 MBD1 4152 __UNKNOWN__ __UNKNOWN__ 18 47802971 47802971 __UNKNOWN__ Intron SNP A A G rs10775495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47802971A>G ENST00000590208.1 - 5 822 MBD1_ENST00000269468.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000591416.1_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000457839.2_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000585595.1_Intron NM_001204136.1 NP_001191065.1 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CCAGCCTAGCATGACACTGGA 0.537 NA A||| 3441 0.687101 0.5136 0.7579 5008 , , NA 22243 0.7897 NA 0.7376 False NA ,,, NA NA NA 2504 0.7137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y10746 CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1 18q21 2014-02-18 ENSG00000141644 ENSG00000141644 4152 6916 protein-coding gene gene with protein product 156535 NA 9207790, 10441743 Standard NM_015846 NM_015844 NA Approved PCM1, CXXC3 uc002lem.4 Q9UIS9 OTTHUMG00000132669 ENST00000590208.1:c.475+60T>C chr18.hg19:g.47802971A>G NA A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9 hg19 CCDS59320.1 0.02 6.519404 AGCxTGA COVERED NOVEL MBD1-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000448756.2 4 15.281404 KEEP 0 1 35 63 2000 AA 1 1 0 - 8 60 276 0 0 17.293967 168 60 6185 273 ENST00000590208.1 0.045455 1 MBD1 4152 __UNKNOWN__ __UNKNOWN__ 18 47803354 47803354 __UNKNOWN__ Silent SNP C C T rs140686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47803354C>T ENST00000590208.1 - 4 586 c.240G>A c.(238-240)gcG>gcA p.A80A MBD1_ENST00000269468.5_Silent_p.A80A|MBD1_ENST00000588937.1_Silent_p.A80A|MBD1_ENST00000591416.1_Silent_p.A80A|MBD1_ENST00000585672.1_Silent_p.A80A|MBD1_ENST00000591535.1_Silent_p.A80A|MBD1_ENST00000587605.1_Silent_p.A80A|MBD1_ENST00000382948.5_Silent_p.A80A|MBD1_ENST00000347968.3_Silent_p.A80A|MBD1_ENST00000398488.1_Silent_p.A80A|MBD1_ENST00000398495.2_Silent_p.A80A|MBD1_ENST00000424334.2_Silent_p.A106A|MBD1_ENST00000436910.1_Silent_p.A80A|MBD1_ENST00000349085.2_Silent_p.A80A|MBD1_ENST00000339998.6_Silent_p.A80A|MBD1_ENST00000398493.1_Silent_p.A80A|MBD1_ENST00000457839.2_Silent_p.A80A|MBD1_ENST00000269471.5_Silent_p.A80A|MBD1_ENST00000353909.3_Silent_p.A80A|MBD1_ENST00000585595.1_Silent_p.A80A NM_001204136.1 NP_001191065.1 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 80 NA negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 TGCTGGCAACCGCCACGGGAT 0.577 NA C||| 1107 0.221046 0.0113 0.2378 5008 , , NA 20363 0.5784 NA 0.0746 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 C ,,,,,,,,,,,,, 111,4295 85.3+/-124.0 1,109,2093 75 72 73 240,240,240,240,240,240,240,240,240,240,240,240,240,240 -6.6 0 18 dbSNP_78 73 690,7910 171.3+/-222.3 28,634,3638 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous MBD1 NM_001204136.1,NM_001204137.1,NM_001204138.1,NM_001204139.1,NM_001204140.1,NM_001204141.1,NM_001204142.1,NM_001204143.1,NM_001204151.1,NM_002384.2,NM_015844.2,NM_015845.3,NM_015846.3,NM_015847.3 ,,,,,,,,,,,,, 29,743,5731 TT,TC,CC 8.0233,2.5193,6.1587 ,,,,,,,,,,,,, 80/656,80/631,80/630,80/606,80/575,80/568,80/551,80/536,80/537,80/504,80/550,80/587,80/606,80/557 47803354 801,12205 2203 4300 6503 SO:0001819 synonymous_variant Y10746 CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1 18q21 2014-02-18 ENSG00000141644 ENSG00000141644 4152 6916 protein-coding gene gene with protein product 156535 NA 9207790, 10441743 Standard NM_015846 NM_015844 NA Approved PCM1, CXXC3 uc002lem.4 Q9UIS9 OTTHUMG00000132669 ENST00000590208.1:c.240G>A chr18.hg19:g.47803354C>T NA A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9 hg19 CCDS59320.1 0.02 12.681199 AACxGCC COVERED NOVEL MBD1-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000448756.2 1 34.308317 KEEP 0 0 0 114 3892 CC 1 1 0 - 11 60 406 0 0 24.842025 324 60 11178 577 ENST00000590208.1 0.032836 1 CXXC1 30827 __UNKNOWN__ __UNKNOWN__ 18 47810251 47810251 __UNKNOWN__ Intron SNP C C G rs3819217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47810251C>G ENST00000412036.2 - 10 1472 CXXC1_ENST00000285106.6_Intron|CXXC1_ENST00000589940.1_Intron Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CTGCTGCGCCCCTGCTTGCTC 0.562 NA C||| 2018 0.402955 0.2224 0.5331 5008 , , NA 22272 0.5903 NA 0.3141 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 C , 1042,3364 380.6+/-323.8 125,792,1286 156 143 147 , 1.6 0 18 dbSNP_107 147 2737,5863 436.0+/-358.2 433,1871,1996 no intron,intron CXXC1 NM_001101654.1,NM_014593.3 , 558,2663,3282 GG,GC,CC 31.8256,23.6496,29.0558 , , 47810251 3779,9227 2203 4300 6503 SO:0001627 intron_variant BC014940 CCDS11945.1, CCDS45866.1 18q12 2014-02-20 2014-02-20 ENSG00000154832 ENSG00000154832 30827 Zinc fingers, PHD-type 24343 protein-coding gene gene with protein product CpG binding protein, DNA-binding protein with PHD finger and CXXC domain, zinc finger, CpG binding-type containing 1 609150 CXXC finger 1 (PHD domain) NA 10799292, 10688657 Standard NM_014593 NM_014593 NA Approved HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1 uc002ler.4 Q9P0U4 OTTHUMG00000132670 ENST00000412036.2:c.1425+12G>C chr18.hg19:g.47810251C>G NA B2RC03|Q8N2W4|Q96BC8|Q9P2V7 hg19 CCDS45866.1 0.02 16.000443 GCCxCTG COVERED NOVEL CXXC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000448576.1 2 30.284965 KEEP 0 3 104 137 4798 CC 1 1 0 - 13 60 479 0 0 29.903009 342 60 12599 593 ENST00000412036.2 0.03662 1 CXXC1 30827 __UNKNOWN__ __UNKNOWN__ 18 47810351 47810351 __UNKNOWN__ Silent SNP A A G rs7228084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:47810351A>G ENST00000412036.2 - 10 1384 c.1338T>C c.(1336-1338)acT>acC p.T446T CXXC1_ENST00000285106.6_Silent_p.T442T|CXXC1_ENST00000589940.1_Silent_p.T442T Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 442 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188) unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270) autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CCTGAAGGCGAGTGCGGGCAC 0.602 NA A||| 3578 0.714457 0.5953 0.7709 5008 , , NA 21331 0.7907 NA 0.7396 False NA ,,, NA NA NA 2504 0.7311 NA NA NA NA 0 A , 2734,1672 655.2+/-399.9 847,1040,316 107 97 100 1338,1326 -5.3 1 18 dbSNP_116 100 6192,2408 698.7+/-405.0 2230,1732,338 no coding-synonymous,coding-synonymous CXXC1 NM_001101654.1,NM_014593.3 , 3077,2772,654 GG,GA,AA 28.0,37.9483,31.3701 , 446/661,442/657 47810351 8926,4080 2203 4300 6503 SO:0001819 synonymous_variant BC014940 CCDS11945.1, CCDS45866.1 18q12 2014-02-20 2014-02-20 ENSG00000154832 ENSG00000154832 30827 Zinc fingers, PHD-type 24343 protein-coding gene gene with protein product CpG binding protein, DNA-binding protein with PHD finger and CXXC domain, zinc finger, CpG binding-type containing 1 609150 CXXC finger 1 (PHD domain) NA 10799292, 10688657 Standard NM_014593 NM_014593 NA Approved HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1 uc002ler.4 Q9P0U4 OTTHUMG00000132670 ENST00000412036.2:c.1338T>C chr18.hg19:g.47810351A>G NA B2RC03|Q8N2W4|Q96BC8|Q9P2V7 hg19 CCDS45866.1 0.02 16.737521 GCGxGTG COVERED NOVEL CXXC1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000448576.1 3 30.733172 KEEP 0 3 108 140 4390 AA 1 1 0 - 16 60 596 0 0 38.782283 346 60 12646 629 ENST00000412036.2 0.044199 1 ELAC1 55520 __UNKNOWN__ __UNKNOWN__ 18 48514395 48514395 __UNKNOWN__ 3'UTR SNP T T C rs8088712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:48514395T>C ENST00000269466.3 + 0 2139 RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron NM_018696.2 NP_061166.1 Q9H777 RNZ1_HUMAN elaC ribonuclease Z 1 NA NA tRNA 3'-trailer cleavage (GO:0042779) cytosol (GO:0005829)|nucleus (GO:0005634) endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872) kidney(1)|large_intestine(4)|prostate(1) 6 Colorectal(6;0.0269)|all_epithelial(6;0.0729) Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18) AATGAGCCATTAAGTGAAGCT 0.343 NA C||| 2046 0.408546 0.4092 0.4035 5008 , , NA 23030 0.5476 NA 0.3986 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB029151 CCDS11949.1 18q21 2013-05-24 2013-05-24 ENSG00000141642 ENSG00000141642 55520 3.1.26.11 14197 protein-coding gene gene with protein product tRNA Z (short form), RNaseZ(S) 608079 elaC (E. coli) homolog 1, elaC homolog 1 (E. coli) NA 12711671, 21559454 Standard NM_018696 NA Approved D29 uc002lez.3 Q9H777 OTTHUMG00000132695 ENST00000269466.3:c.*940T>C chr18.hg19:g.48514395T>C NA Q9NS99 hg19 CCDS11949.1 0.02 6.45249 CATxAAG COVERED NOVEL ELAC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000255992.2 0 5.113928 KEEP 0 0 0 17 517 TT 0.999366 0.999366 0 + 6 60 230 0 0 14.230332 189 60 6814 237 ENST00000269466.3 0.030769 1 SMAD4 4089 __UNKNOWN__ __UNKNOWN__ 18 48586328 48586328 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:48586328T>A ENST00000588745.1 + 4 667 SMAD4_ENST00000398417.2_Intron|SMAD4_ENST00000342988.3_Intron Q13485 SMAD4_HUMAN SMAD family member 4 NA NA atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616) p.0?(36)|p.?(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TTAGATTGATTTAGTGGTGAT 0.378 NA NA NA NA NA NA NA NA NA NA NA 37 Whole gene deletion(36)|Unknown(1) pancreas(26)|breast(3)|large_intestine(2)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1) 73 68 70 NA NA 18 NA 48586328 2203 4300 6503 SO:0001627 intron_variant U44378 CCDS11950.1 18q21.1 2014-09-17 2006-11-06 2004-05-26 ENSG00000141646 ENSG00000141646 4089 SMADs 6770 protein-coding gene gene with protein product 600993 MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila) MADH4 NA 8553070, 8774881 Standard NM_005359 NM_005359 NA Approved DPC4 uc010xdp.2 Q13485 OTTHUMG00000132696 ENST00000588745.1:c.667+4965T>A chr18.hg19:g.48586328T>A NA A8K405 hg19 CCDS11950.1 0.02 4.182384 GATxTAG COVERED NOVEL SMAD4-004 NOVEL not_organism_supported|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000449729.1 0 9.027748 KEEP 0 0 0 30 980 TT 0.999997 0.999997 0 + 6 60 222 0 0 14.387112 130 60 4714 194 ENST00000588745.1 0.044118 1 RP11-671P2.1 0 __UNKNOWN__ __UNKNOWN__ 18 51059163 51059163 __UNKNOWN__ RNA SNP T T C rs2292043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:51059163T>C ENST00000582064.1 - 0 120 NA NA NA AGTCACACCTTCAATCTATAG 0.338 NA T||| 1406 0.280751 0.0908 0.2695 5008 , , NA 12566 0.4276 NA 0.2833 False NA ,,, NA NA NA 2504 0.3916 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000582064.1: chr18.hg19:g.51059163T>C NA hg19 0.02 1.935991 CCTxCAA COVERED NOVEL RP11-671P2.1-001 KNOWN basic antisense NA antisense OTTHUMT00000447782.1 1 4.513696 KEEP 0 0 0 15 468 TT 0.99649 0.988612 0 - 5 60 179 0 0 12.739384 57 60 1952 98 ENST00000582064.1 0.080645 0.992094 MBD2 8932 __UNKNOWN__ __UNKNOWN__ 18 51686057 51686057 __UNKNOWN__ Intron SNP G G C rs9946304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:51686057G>C ENST00000256429.3 - 6 1477 MBD2_ENST00000579025.1_Intron NM_003927.4 NP_003918.1 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 NA NA ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234) C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197) breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) caagtgctgggattacaggca 0.478 NA G||| 1236 0.246805 0.1437 0.183 5008 , , NA 19009 0.4127 NA 0.2783 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF072242 CCDS11953.1, CCDS45871.1 18q21 2008-08-01 ENSG00000134046 ENSG00000134046 8932 6917 protein-coding gene gene with protein product 603547 NA 9774669, 10441743 Standard NM_003927 NM_003927 NA Approved uc002lfg.2 Q9UBB5 OTTHUMG00000132705 ENST00000256429.3:c.1233+77C>G chr18.hg19:g.51686057G>C NA O95242|Q9UIS8 hg19 CCDS11953.1 0.02 14.067963 TGGxATT COVERED NOVEL MBD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256003.2 10 27.985122 KEEP 0 0 0 93 3272 GG 1 1 0 - 13 60 493 0 0 31.794403 313 60 11413 503 ENST00000256429.3 0.039877 1 DYNAP 284254 __UNKNOWN__ __UNKNOWN__ 18 52265308 52265308 __UNKNOWN__ Missense_Mutation SNP A A C rs9947055 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:52265308A>C ENST00000585973.1 + 3 500 c.409A>C c.(409-411)Act>Cct p.T137P DYNAP_ENST00000321600.1_Missense_Mutation_p.T189P Q8N1N2 DYNAP_HUMAN dynactin associated protein 189 NA activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) NA TGAATCTACAACTTCAACAGC 0.458 NA A||| 2688 0.536741 0.4463 0.5058 5008 , , NA 17461 0.7054 NA 0.5616 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 A PRO/THR 1962,2444 536.4+/-374.5 434,1094,675 104 93 96 565 -4 0 18 dbSNP_119 96 4748,3848 577.5+/-390.6 1332,2084,882 yes missense C18orf26 NM_173629.1 38 1766,3178,1557 CC,CA,AA 44.765,44.5302,48.3926 benign 189/211 52265308 6710,6292 2203 4298 6501 SO:0001583 missense AK096425 CCDS11957.1 18q21.2 2012-10-24 2012-10-24 2012-10-24 ENSG00000178690 ENSG00000178690 284254 26808 protein-coding gene gene with protein product chromosome 18 open reading frame 26 C18orf26 NA 20978158 Standard NM_173629 NM_173629 NA Approved FLJ39106 uc002lfq.1 Q8N1N2 OTTHUMG00000132709 ENST00000585973.1:c.409A>C chr18.hg19:g.52265308A>C ENSP00000466577:p.Thr137Pro NA hg19 0.02 25.931428 ACAxCTT COVERED 1229 0.5627289377289377 213 0.4329268292682927 184 0.5082872928176796 403 0.7045454545454546 429 0.5659630606860159 A 12.42 1.934113 0.34096 0.445302 0.55235 ENSG00000178690 ENST00000321600 T 0.31510 1.49 3.51 -4.0 0.04057 . 0.918147 0.09138 N 0.843365 T 0.00012 0.0000 L 0.36672 1.1 0.80722 P 0.0 B 0.17667 0.023 B 0.14023 0.01 T 0.39440 -0.9614 9 0.51188 T 0.08 -2.3752 5.6177 0.17440 0.4432:0.1581:0.3986:0.0 rs9947055;rs52808151;rs57248903;rs9947055 189 Q8N1N2 CR026_HUMAN P 189 ENSP00000315265:T189P ENSP00000315265:T189P T + 1 0 C18orf26 50416306 0.000000 0.05858 0.000000 0.03702 0.150000 0.21749 -0.546000 0.06062 -0.860000 0.04099 0.496000 0.49642 ACT NOVEL DYNAP-002 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000448062.1 4 15.647629 KEEP 0 0 0 52 1668 AA 1 1 0 + 18 60 658 0 0 39.242823 587 60 20343 787 ENST00000585973.1 0.029752 1 TCF4 6925 __UNKNOWN__ __UNKNOWN__ 18 52942827 52942827 __UNKNOWN__ Intron SNP G G A rs1788027|rs386803494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:52942827G>A ENST00000561992.1 - 6 798 TCF4_ENST00000356073.4_Intron|TCF4_ENST00000570287.2_Intron|TCF4_ENST00000540999.1_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000398339.1_Intron|TCF4_ENST00000537856.3_Intron|TCF4_ENST00000564999.1_Intron|TCF4_ENST00000565018.2_Intron|TCF4_ENST00000354452.3_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000564228.1_Intron|TCF4_ENST00000564403.2_Intron|TCF4_ENST00000570177.2_Intron|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000457482.3_Intron|TCF4_ENST00000568673.1_Intron|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000544241.2_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000561831.3_Intron|TCF4_ENST00000543082.1_Intron NM_001243233.1 NP_001230162.1 P15884 ITF2_HUMAN transcription factor 4 NA NA DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TGACATTCCCGTTACCGTGTA 0.448 NA A||| 2856 0.570288 0.7504 0.353 5008 , , NA 21221 0.5635 NA 0.4831 False NA ,,, NA NA NA 2504 0.5777 NA NA NA NA 0 A , 2973,1433 465.3+/-354.1 1002,969,232 146 126 133 , -1.5 0 18 dbSNP_89 133 3965,4635 601.5+/-394.4 922,2121,1257 no intron,intron TCF4 NM_001083962.1,NM_003199.2 , 1924,3090,1489 AA,AG,GG 46.1047,32.5238,46.6554 , , 52942827 6938,6068 2203 4300 6503 SO:0001627 intron_variant M74719 CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1 18q21.1 2013-05-21 ENSG00000196628 ENSG00000196628 6925 Basic helix-loop-helix proteins 11634 protein-coding gene gene with protein product 602272 NA 9302263, 2308860 Standard NM_003199 NM_001083962 NA Approved SEF2-1B, ITF2, bHLHb19, E2-2 uc002lga.3 P15884 OTTHUMG00000132713 ENST00000561992.1:c.399+22C>T chr18.hg19:g.52942827G>A NA B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441 hg19 CCDS58626.1 0.02 4.452401 CCCxTTA COVERED NOVEL TCF4-010 PUTATIVE alternative_5_UTR|basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000421639.1 0 3.244494 KEEP 0 1 32 22 713 GG 0.999892 0.999892 0 - 8 60 293 0 0 20.126322 120 60 4021 173 ENST00000561992.1 0.0625 1 ST8SIA3 51046 __UNKNOWN__ __UNKNOWN__ 18 55021588 55021588 __UNKNOWN__ Intron SNP C C T rs75949411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55021588C>T ENST00000324000.3 + 2 2213 NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 NA NA cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503) Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173) alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) TCGGCTTCCCCGAGCTGAGGC 0.607 NA C||| 273 0.0545128 0.1089 0.0879 5008 , , NA 13786 0.0665 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 391,4015 187.8+/-214.3 22,347,1834 76 78 77 -5.1 0 18 dbSNP_132 77 9,8591 6.4+/-24.3 0,9,4291 no intron ST8SIA3 NM_015879.2 22,356,6125 TT,TC,CC 0.1047,8.8743,3.0755 55021588 400,12606 2203 4300 6503 SO:0001627 intron_variant AF004668 CCDS32834.1 18q21.31 2013-03-01 2005-02-07 2005-02-07 ENSG00000177511 ENSG00000177511 51046 Sialyltransferases 14269 protein-coding gene gene with protein product ST8Sia III 609478 sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase) SIAT8C NA Standard NM_015879 NM_015879 NA Approved uc002lgn.3 O43173 OTTHUMG00000180101 ENST00000324000.3:c.180-45C>T chr18.hg19:g.55021588C>T NA A8K0F2|Q6B085|Q9NS41 hg19 CCDS32834.1 0.02 4.186282 CCCxGAG COVERED NOVEL ST8SIA3-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449765.1 0 3.310744 KEEP 0 0 0 11 385 CC 0.993072 0.993072 0 + 6 60 225 0 0 14.480707 141 60 5059 170 ENST00000324000.3 0.040816 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55134346 55134346 __UNKNOWN__ Intron SNP A A G rs76994448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55134346A>G ENST00000491143.2 + 2 1260 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GTGACTTTGTATTGAAAGTAA 0.458 NA A||| 521 0.104034 0.003 0.1427 5008 , , NA 20520 0.3641 NA 0.0338 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.1229-9323A>G chr18.hg19:g.55134346A>G NA hg19 CCDS42440.1 0.02 6.780998 TGTxTTG COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 4.211738 KEEP 0 0 0 14 426 AA 0.995343 0.995343 0 + 6 60 224 0 0 14.01138 163 60 5798 211 ENST00000491143.2 0.035503 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55134359 55134359 __UNKNOWN__ Intron SNP A A G rs75667305 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55134359A>G ENST00000491143.2 + 2 1260 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) GAAAGTAAAAATAGAGACAGG 0.448 NA A||| 521 0.104034 0.003 0.1427 5008 , , NA 20194 0.3641 NA 0.0338 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.1229-9310A>G chr18.hg19:g.55134359A>G NA hg19 CCDS42440.1 0.02 6.105899 AAAxTAG COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 4.51382 KEEP 0 0 0 15 480 AA 0.99649 0.99649 0 + 8 60 273 0 0 16.749377 181 60 6569 248 ENST00000491143.2 0.042328 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55144934 55144934 __UNKNOWN__ 3'UTR SNP T T A rs12963672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55144934T>A ENST00000491143.2 + 0 2526 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ATGCAGCATTTTAAAAGATCT 0.413 NA T||| 560 0.111821 0.003 0.2161 5008 , , NA 20735 0.3611 NA 0.0249 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*979T>A chr18.hg19:g.55144934T>A NA hg19 CCDS42440.1 0.02 6.598869 ATTxTAA COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 6.619936 KEEP 0 0 0 22 688 TT 0.999879 0.999879 0 + 8 60 288 0 0 18.678653 159 60 5667 207 ENST00000491143.2 0.047904 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55146343 55146343 __UNKNOWN__ 3'UTR SNP A A G rs6566883 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55146343A>G ENST00000491143.2 + 0 3935 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CATCAGGGGAAGGAAAGGGAG 0.463 NA G||| 940 0.1877 0.2769 0.2522 5008 , , NA 14910 0.3681 NA 0.0179 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*2388A>G chr18.hg19:g.55146343A>G NA hg19 CCDS42440.1 0.02 4.542418 GGAxGGA COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 2.708089 KEEP 0 0 0 9 280 AA 0.99254 0.992538 0 + 6 60 227 0 0 15.271332 112 60 3982 149 ENST00000491143.2 0.050847 0.999998 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55147888 55147888 __UNKNOWN__ 3'UTR SNP A A C rs17831587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55147888A>C ENST00000491143.2 + 0 5480 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TACCAGAGAAAAGTGCTTGCT 0.259 NA A||| 561 0.112021 0.0023 0.2334 5008 , , NA 14706 0.369 NA 0.0129 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*3933A>C chr18.hg19:g.55147888A>C NA hg19 CCDS42440.1 0.02 1.938767 GAAxAGT COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 4.813461 KEEP 0 0 0 16 505 AA 0.997832 0.996036 0 + 4 60 147 0 0 9.852401 70 60 2518 116 ENST00000491143.2 0.054054 0.9982 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55148861 55148861 __UNKNOWN__ 3'UTR SNP A A T rs10503013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55148861A>T ENST00000491143.2 + 0 6453 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) ATGTTGGTAGAATTATAGGAA 0.353 NA A||| 561 0.112021 0.0023 0.2334 5008 , , NA 17878 0.369 NA 0.0129 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*4906A>T chr18.hg19:g.55148861A>T NA hg19 CCDS42440.1 0.02 7.917917 TAGxATT COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 4.513754 KEEP 0 0 0 15 474 AA 0.99649 0.99649 0 + 7 60 250 0 0 14.712551 225 60 8144 289 ENST00000491143.2 0.030172 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55149127 55149127 __UNKNOWN__ 3'UTR SNP T T G rs34388186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55149127T>G ENST00000491143.2 + 0 6719 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGCTGACTTTTTGTTTTTGTT 0.433 NA T||| 572 0.114217 0.0023 0.2378 5008 , , NA 18924 0.369 NA 0.0209 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*5172T>G chr18.hg19:g.55149127T>G NA hg19 CCDS42440.1 0.02 7.129307 TTTxTGT COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 0 4.212319 KEEP 0 0 0 14 450 TT 0.995343 0.995343 0 + 7 60 271 0 0 18.116662 145 60 5204 193 ENST00000491143.2 0.046053 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55149358 55149358 __UNKNOWN__ 3'UTR SNP A A G rs35574376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55149358A>G ENST00000491143.2 + 0 6950 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCCTTACGGAATGAAGAATGG 0.318 NA A||| 561 0.112021 0.0023 0.2334 5008 , , NA 18276 0.369 NA 0.0129 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*5403A>G chr18.hg19:g.55149358A>G NA hg19 CCDS42440.1 0.02 4.513627 GGAxTGA COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 0 3.912105 KEEP 0 0 0 13 423 AA 0.994391 0.99439 0 + 6 60 232 0 0 15.697055 115 60 4184 162 ENST00000491143.2 0.049587 0.999999 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55151334 55151334 __UNKNOWN__ 3'UTR SNP G G A rs2298651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55151334G>A ENST00000491143.2 + 0 8926 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) taaaaaaatCGTAAACAAAAA 0.363 NA G||| 572 0.114217 0.0023 0.2378 5008 , , NA 16299 0.369 NA 0.0209 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*7379G>A chr18.hg19:g.55151334G>A NA hg19 CCDS42440.1 0.02 2.103294 ATCxTAA COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 0 7.223623 KEEP 0 0 0 24 851 GG 0.999909 0.998902 0 + 6 60 232 0 0 16.877603 72 60 2601 125 ENST00000491143.2 0.076923 0.998993 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55151997 55151997 __UNKNOWN__ 3'UTR SNP A A G rs11665166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55151997A>G ENST00000491143.2 + 0 9589 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCCAAATCAAATAACTCTTGA 0.493 NA A||| 573 0.114417 0.0023 0.2378 5008 , , NA 19458 0.369 NA 0.0209 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*8042A>G chr18.hg19:g.55151997A>G NA hg19 CCDS42440.1 0.02 1.980513 CAAxTAA COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 3 3.009245 KEEP 0 0 0 10 318 AA 0.992708 0.99259 0 + 4 60 137 0 0 8.470874 88 60 3140 124 ENST00000491143.2 0.043478 0.999881 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55152631 55152631 __UNKNOWN__ 3'UTR SNP T T C rs74182196|rs3810087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55152631T>C ENST00000491143.2 + 0 10223 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CAGAGGAATATGCCAGTTTAA 0.318 NA T||| 585 0.116813 0.003 0.2406 5008 , , NA 20747 0.369 NA 0.0308 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*8676T>C chr18.hg19:g.55152631T>C NA hg19 CCDS42440.1 0.02 6.463311 ATAxGCC COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 0 3.008991 KEEP 0 0 0 10 309 TT 0.992708 0.992708 0 + 6 60 229 0 0 14.772647 147 60 5392 202 ENST00000491143.2 0.039216 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55152632 55152632 __UNKNOWN__ 3'UTR SNP G G T rs74182196|rs3810088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55152632G>T ENST00000491143.2 + 0 10224 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGAGGAATATGCCAGTTTAAG 0.313 NA G||| 586 0.117013 0.003 0.2406 5008 , , NA 20701 0.37 NA 0.0308 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*8677G>T chr18.hg19:g.55152632G>T NA hg19 CCDS42440.1 0.02 5.974866 TATxCCA COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 0 3.008589 KEEP 0 0 0 10 341 GG 0.992708 0.992708 0 + 6 60 220 0 0 13.911807 145 60 5399 200 ENST00000491143.2 0.039735 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55152944 55152944 __UNKNOWN__ 3'UTR SNP G G A rs3745070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55152944G>A ENST00000491143.2 + 0 10536 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) AGAGAGGAAGGGACCAATCAA 0.353 NA A||| 587 0.117212 0.0045 0.2406 5008 , , NA 22898 0.3681 NA 0.0318 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*8989G>A chr18.hg19:g.55152944G>A NA hg19 CCDS42440.1 0.02 10.601267 AAGxGAC COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 6.621532 KEEP 0 0 0 22 776 GG 0.999879 0.999879 0 + 10 60 365 0 0 22.577075 268 60 9589 350 ENST00000491143.2 0.035971 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55153198 55153198 __UNKNOWN__ 3'UTR SNP A A C rs3745069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55153198A>C ENST00000491143.2 + 0 10790 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TGGAATTAGAACTCTCAGAAT 0.438 NA A||| 350 0.0698882 0.0023 0.1037 5008 , , NA 21816 0.2371 NA 0.0268 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*9243A>C chr18.hg19:g.55153198A>C NA hg19 CCDS42440.1 0.02 6.410992 AGAxCTC COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 1 4.210901 KEEP 0 0 0 14 421 AA 0.995343 0.995343 0 + 7 60 239 0 0 14.502667 170 60 6014 204 ENST00000491143.2 0.039548 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55153371 55153371 __UNKNOWN__ 3'UTR SNP T T C rs3745066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55153371T>C ENST00000491143.2 + 0 10963 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TTGGCAGACCTCTCCTCAGCA 0.517 NA C||| 585 0.116813 0.003 0.2406 5008 , , NA 20001 0.369 NA 0.0308 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*9416T>C chr18.hg19:g.55153371T>C NA hg19 CCDS42440.1 0.02 12.085825 ACCxCTC COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 2 10.529409 KEEP 0 0 0 35 1082 TT 0.999999 0.999999 0 + 15 60 556 0 0 37.945411 242 60 8624 368 ENST00000491143.2 0.058366 1 ONECUT2 9480 __UNKNOWN__ __UNKNOWN__ 18 55158109 55158109 __UNKNOWN__ 3'UTR SNP C C T rs2279099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55158109C>T ENST00000491143.2 + 0 15701 NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 NA NA cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952) nucleus (GO:0005634) RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CACTCTCTTCCGTTTTGAAAA 0.368 NA C||| 614 0.122604 0.0053 0.2406 5008 , , NA 21043 0.3948 NA 0.0308 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y18198 CCDS42440.1 18q21.31 2012-03-09 2007-07-16 ENSG00000119547 ENSG00000119547 9480 Homeoboxes / CUT class 8139 protein-coding gene gene with protein product 604894 one cut domain, family member 2 NA 9915796 Standard NM_004852 NA Approved OC-2 uc002lgo.3 O95948 OTTHUMG00000159776 ENST00000491143.2:c.*14154C>T chr18.hg19:g.55158109C>T NA hg19 CCDS42440.1 0.02 17.13136 TTCxGTT COVERED NOVEL ONECUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357264.3 5 18.359399 KEEP 0 0 0 61 2138 CC 1 1 0 + 15 60 554 0 0 34.31109 415 60 14425 606 ENST00000491143.2 0.034884 1 NEDD4L 23327 __UNKNOWN__ __UNKNOWN__ 18 55816791 55816791 __UNKNOWN__ Intron SNP G G A rs4149601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:55816791G>A ENST00000256830.9 + 2 48 NEDD4L_ENST00000586263.1_Splice_Site_p.Q8Q|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000588516.1_Intron|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000357895.5_Splice_Site_p.Q8Q|NEDD4L_ENST00000400345.3_Intron|NEDD4L_ENST00000256832.7_Intron|NEDD4L_ENST00000456986.1_Intron|NEDD4L_ENST00000382850.4_Intron Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase NA NA cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842) breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CATTTGAGCAGGTAACACTCG 0.433 NA A||| 1383 0.276158 0.3608 0.2089 5008 , , NA 21751 0.2113 NA 0.3539 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 GRCh37 CS024266 NEDD4L S rs4149601 A ,,,,,, 453,931 66,321,305 189 166 173 ,,,24,24,, 2.8 0 18 dbSNP_110 173 1101,2081 196,709,686 yes intron,utr-5,intron,coding-synonymous-near-splice,coding-synonymous-near-splice,utr-5,intron NEDD4L NM_001144964.1,NM_001144965.1,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144971.1,NM_015277.5 ,,,,,, 262,1030,991 AA,AG,GG 34.6009,32.7312,34.0342 ,,,,,, ,,,8/968,8/948,, 55816791 1554,3012 692 1591 2283 SO:0001627 intron_variant AF210730 CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1 18q21.31 2014-08-12 2012-02-23 ENSG00000049759 23327 7728 protein-coding gene gene with protein product 606384 neural precursor cell expressed, developmentally down-regulated 4-like NA 10594025, 11244092, 18322022 Standard NM_001144965 NA Approved KIAA0439, RSP5, NEDD4-2 uc002lgy.3 Q96PU5 OTTHUMG00000179875 ENST00000256830.9:c.49-16229G>A chr18.hg19:g.55816791G>A NA O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88 hg19 0.02 15.531283 GCAxGTA COVERED NOVEL NEDD4L-037 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000449050.2 1 17.454262 KEEP 0 0 0 58 2048 GG 1 1 0 + 12 60 445 0 0 26.872716 385 60 14417 548 ENST00000256830.9 0.030227 1 ALPK2 115701 __UNKNOWN__ __UNKNOWN__ 18 56246442 56246442 __UNKNOWN__ Silent SNP T T C rs12606191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56246442T>C ENST00000361673.3 - 4 1779 c.1566A>G c.(1564-1566)ggA>ggG p.G522G ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 522 NA nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 ATAAGTCCTTTCCCCCCACTC 0.517 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1870 0.373403 0.1316 0.3991 5008 , , NA 18636 0.6022 NA 0.3539 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 T 798,3608 314.1+/-293.5 75,648,1480 226 225 225 1566 -6.9 0 18 dbSNP_120 225 3050,5550 460.4+/-365.2 581,1888,1831 no coding-synonymous ALPK2 NM_052947.3 656,2536,3311 CC,CT,TT 35.4651,18.1117,29.5863 522/2171 56246442 3848,9158 2203 4300 6503 SO:0001819 synonymous_variant AY044450 CCDS11966.2 18q21.31 2013-01-11 ENSG00000198796 ENSG00000198796 115701 Immunoglobulin superfamily / I-set domain containing 20565 protein-coding gene gene with protein product heart alpha-kinase NA 10021370 Standard NM_052947 NM_052947 NA Approved HAK uc002lhj.4 Q86TB3 OTTHUMG00000132755 ENST00000361673.3:c.1566A>G chr18.hg19:g.56246442T>C 1014 Q6ZUX0|Q8NAT5|Q96L95 hg19 CCDS11966.2 0.02 14.415637 CTTxCCC COVERED NOVEL ALPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256126.1 1 5.183051 KEEP 0 2 74 43 1266 TT 1 1 0 - 9 60 349 0 0 21.127359 335 60 11191 475 ENST00000361673.3 0.026163 1 ALPK2 115701 __UNKNOWN__ __UNKNOWN__ 18 56247180 56247180 __UNKNOWN__ Silent SNP T T C rs9958735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56247180T>C ENST00000361673.3 - 4 1041 c.828A>G c.(826-828)ctA>ctG p.L276L NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 276 NA nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTGCCTCAGATAGCGGGAGGC 0.493 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 2555 0.510184 0.4289 0.4856 5008 , , NA 20176 0.6022 NA 0.5 False NA ,,, NA NA NA 2504 0.5532 NA NA NA NA 0 C 1924,2482 623.9+/-394.2 432,1060,711 114 106 109 828 -0.8 0 18 dbSNP_119 109 4310,4290 577.4+/-390.6 1113,2084,1103 no coding-synonymous ALPK2 NM_052947.3 1545,3144,1814 CC,CT,TT 49.8837,43.6677,47.9317 276/2171 56247180 6234,6772 2203 4300 6503 SO:0001819 synonymous_variant AY044450 CCDS11966.2 18q21.31 2013-01-11 ENSG00000198796 ENSG00000198796 115701 Immunoglobulin superfamily / I-set domain containing 20565 protein-coding gene gene with protein product heart alpha-kinase NA 10021370 Standard NM_052947 NM_052947 NA Approved HAK uc002lhj.4 Q86TB3 OTTHUMG00000132755 ENST00000361673.3:c.828A>G chr18.hg19:g.56247180T>C 1014 Q6ZUX0|Q8NAT5|Q96L95 hg19 CCDS11966.2 0.02 13.668491 AGAxAGC COVERED NOVEL ALPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256126.1 1 11.732946 KEEP 0 0 0 39 1180 TT 1 1 0 - 10 60 373 0 0 23.010856 292 60 10462 389 ENST00000361673.3 0.033113 1 ALPK2 115701 __UNKNOWN__ __UNKNOWN__ 18 56247567 56247567 __UNKNOWN__ Silent SNP A A G rs9956630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56247567A>G ENST00000361673.3 - 4 654 c.441T>C c.(439-441)taT>taC p.Y147Y NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 147 NA nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTTCTTCCTTATAAGGATGTT 0.498 NA A||| 2418 0.482827 0.3306 0.4755 5008 , , NA 20581 0.6022 NA 0.5 False NA ,,, NA NA NA 2504 0.5532 NA NA NA NA 0 A 1521,2749 314,893,928 243 238 239 441 -1 0 18 dbSNP_119 239 4224,4258 1090,2044,1107 no coding-synonymous ALPK2 NM_052947.3 1404,2937,2035 GG,GA,AA 49.7996,35.6206,45.0518 147/2171 56247567 5745,7007 2135 4241 6376 SO:0001819 synonymous_variant AY044450 CCDS11966.2 18q21.31 2013-01-11 ENSG00000198796 ENSG00000198796 115701 Immunoglobulin superfamily / I-set domain containing 20565 protein-coding gene gene with protein product heart alpha-kinase NA 10021370 Standard NM_052947 NM_052947 NA Approved HAK uc002lhj.4 Q86TB3 OTTHUMG00000132755 ENST00000361673.3:c.441T>C chr18.hg19:g.56247567A>G NA Q6ZUX0|Q8NAT5|Q96L95 hg19 CCDS11966.2 0.02 18.622143 CTTxTAA COVERED NOVEL ALPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256126.1 1 7.157729 KEEP 0 1 38 37 1166 AA 1 1 0 - 14 60 548 0 0 34.674395 417 60 14799 537 ENST00000361673.3 0.032483 1 ALPK2 115701 __UNKNOWN__ __UNKNOWN__ 18 56247600 56247600 __UNKNOWN__ Missense_Mutation SNP C C A rs9944810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56247600C>A ENST00000361673.3 - 4 621 c.408G>T c.(406-408)agG>agT p.R136S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 136 NA R -> S (in dbSNP:rs9944810). nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCTGATTTGCCCTTTCTTCTT 0.493 NA A||| 2418 0.482827 0.3306 0.4755 5008 , , NA 21643 0.6022 NA 0.5 False NA ,,, NA NA NA 2504 0.5532 NA NA NA NA 0 A SER/ARG 1480,2752 300,880,936 284 272 276 408 -6.2 0 18 dbSNP_119 276 4213,4229 1090,2033,1098 yes missense ALPK2 NM_052947.3 110 1390,2913,2034 AA,AC,CC 49.9052,34.9716,44.9187 benign 136/2171 56247600 5693,6981 2116 4221 6337 SO:0001583 missense AY044450 CCDS11966.2 18q21.31 2013-01-11 ENSG00000198796 ENSG00000198796 115701 Immunoglobulin superfamily / I-set domain containing 20565 protein-coding gene gene with protein product heart alpha-kinase NA 10021370 Standard NM_052947 NM_052947 NA Approved HAK uc002lhj.4 Q86TB3 OTTHUMG00000132755 ENST00000361673.3:c.408G>T chr18.hg19:g.56247600C>A ENSP00000354991:p.Arg136Ser NA Q6ZUX0|Q8NAT5|Q96L95 hg19 CCDS11966.2 0.02 20.235056 TGCxCTT COVERED 1042 0.47710622710622713 139 0.28252032520325204 177 0.4889502762430939 354 0.6188811188811189 372 0.49076517150395776 A 0.956 -0.704751 0.03255 0.349716 0.499052 ENSG00000198796 ENST00000361673 T 0.39056 1.1 5.65 -6.19 0.02078 . . . . . T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.42732 -0.9434 8 0.17369 T 0.5 6.1102 3.3774 0.07242 0.4685:0.2586:0.186:0.087 rs9944810;rs9944810 136 Q86TB3 ALPK2_HUMAN S 136 ENSP00000354991:R136S ENSP00000354991:R136S R - 3 2 ALPK2 54398580 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.613000 0.05610 -1.702000 0.01411 -0.520000 0.04383 AGG NOVEL ALPK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256126.1 1 8.495355 KEEP 0 2 56 48 1678 CC 1 1 0 - 14 60 524 0 0 31.99721 437 60 15796 594 ENST00000361673.3 0.031042 1 MALT1 10892 __UNKNOWN__ __UNKNOWN__ 18 56416054 56416054 __UNKNOWN__ 3'UTR SNP T T C rs58169841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56416054T>C ENST00000348428.3 + 0 3713 RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 NA NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 caggcctagatggctgcattg 0.338 NA T BIRC3 MALT T||| 449 0.0896565 0.0461 0.0173 5008 , , NA 18543 0.2093 NA 0.0398 False NA ,,, NA NA NA 2504 0.1278 NA NA NA Dom yes 18 18q21 10892 mucosa associated lymphoid tissue lymphoma translocation gene 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11967.1, CCDS11968.1 18q21 2013-01-11 ENSG00000172175 ENSG00000172175 10892 Immunoglobulin superfamily / Immunoglobulin-like domain containing 6819 protein-coding gene gene with protein product paracaspase 604860 MLT NA 10339464, 10406266, 10523859 Standard NM_006785 NA Approved uc002lhm.1 Q9UDY8 OTTHUMG00000132761 ENST00000348428.3:c.*980T>C chr18.hg19:g.56416054T>C NA Q9NTB7|Q9ULX4 hg19 CCDS11967.1 0.02 3.786631 AGAxGGC COVERED NOVEL MALT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256132.2 1 9.929919 KEEP 0 0 0 33 1033 TT 0.999998 0.999998 0 + 5 60 178 0 0 10.715512 142 60 5193 221 ENST00000348428.3 0.034014 1 MALT1 10892 __UNKNOWN__ __UNKNOWN__ 18 56416693 56416693 __UNKNOWN__ 3'UTR SNP T T C rs1059442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56416693T>C ENST00000348428.3 + 0 4352 RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 NA NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852) CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 gcccctGCCATTTCCACCCTC 0.522 NA T BIRC3 MALT T||| 1133 0.226238 0.4039 0.1081 5008 , , NA 17454 0.2788 NA 0.1044 False NA ,,, NA NA NA 2504 0.1411 NA NA NA Dom yes 18 18q21 10892 mucosa associated lymphoid tissue lymphoma translocation gene 1 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS11967.1, CCDS11968.1 18q21 2013-01-11 ENSG00000172175 ENSG00000172175 10892 Immunoglobulin superfamily / Immunoglobulin-like domain containing 6819 protein-coding gene gene with protein product paracaspase 604860 MLT NA 10339464, 10406266, 10523859 Standard NM_006785 NA Approved uc002lhm.1 Q9UDY8 OTTHUMG00000132761 ENST00000348428.3:c.*1619T>C chr18.hg19:g.56416693T>C NA Q9NTB7|Q9ULX4 hg19 CCDS11967.1 0.02 4.338392 CCAxTTC COVERED NOVEL MALT1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000256132.2 1 8.726671 KEEP 0 0 0 29 942 TT 0.999997 0.999997 0 + 9 60 340 0 0 23.762129 132 60 4673 201 ENST00000348428.3 0.06383 1 CPLX4 339302 __UNKNOWN__ __UNKNOWN__ 18 56963479 56963479 __UNKNOWN__ 3'UTR SNP C C T rs74775550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56963479C>T ENST00000299721.3 - 0 1120 CPLX4_ENST00000587244.1_Intron NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 NA NA exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928) cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202) autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) AGTCTGTAGACTCAGCTCCCT 0.517 NA C||| 356 0.0710863 0.0008 0.0648 5008 , , NA 18800 0.254 NA 0.007 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY286502 CCDS11973.1 18q21.32 2005-08-02 ENSG00000166569 ENSG00000166569 339302 24330 protein-coding gene gene with protein product 609586 NA 15911881 Standard NM_181654 NM_181654 NA Approved CPX-IV uc002lhy.3 Q7Z7G2 OTTHUMG00000132756 ENST00000299721.3:c.*451G>A chr18.hg19:g.56963479C>T NA F1T0L6 hg19 CCDS11973.1 0.02 6.479069 AGAxTCA COVERED NOVEL CPLX4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256127.1 1 5.417562 KEEP 0 0 0 18 657 CC 0.999859 0.999859 0 - 7 60 259 0 0 16.211061 184 70 6957 258 ENST00000299721.3 0.036649 1 LMAN1 3998 __UNKNOWN__ __UNKNOWN__ 18 56995218 56995218 __UNKNOWN__ 3'UTR SNP A A T rs3760558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:56995218A>T ENST00000251047.5 - 0 5357 NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 NA NA blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031) endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017) mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TAAAAGAAATATATTAAACAA 0.249 NA A||| 107 0.0213658 0.0 0.0014 5008 , , NA 17998 0.0962 NA 0.0 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X71661 CCDS11974.1 18q21.3-q22 2014-09-17 2002-08-30 ENSG00000074695 ENSG00000074695 3998 6631 protein-coding gene gene with protein product endoplasmic reticulum-golgi intermediate compartment protein 53 601567 coagulation factor V-factor VIII combined deficiency F5F8D NA 9546392, 8854877 Standard NM_005570 NM_005570 NA Approved MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1 uc002lhz.3 P49257 OTTHUMG00000132758 ENST00000251047.5:c.*3107T>A chr18.hg19:g.56995218A>T NA Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2 hg19 CCDS11974.1 0.02 8.376527 AATxTAT COVERED NOVEL LMAN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256129.2 4 17.446776 KEEP 0 0 0 58 1748 AA 1 1 0 - 12 60 437 0 0 28.567027 236 60 8590 366 ENST00000251047.5 0.048387 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 57446293 57446293 __UNKNOWN__ IGR SNP A A G rs7237659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:57446293A>G NA NA AC098847.1 (29304 upstream) : RP11-824M15.3 (41978 downstream) NA NA NA ACAGGTTTACATGTTACCACA 0.418 NA a||| 3845 0.767772 0.9304 0.6902 5008 , , NA 23947 0.7768 NA 0.6889 False NA ,,, NA NA NA 2504 0.6748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.57446293A>G NA hg19 0.02 14.401228 TACxTGT COVERED NOVEL 0 1 16.850537 KEEP 0 0 0 56 1770 AA 1 1 0 12 60 429 0 0 25.533713 366 60 13627 546 0.031746 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 18 57864092 57864092 __UNKNOWN__ IGR SNP C C G rs12954782 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:57864092C>G NA NA RNU4-17P (33152 upstream) : RP11-396N11.1 (97291 downstream) NA NA NA TTCCCAAATTCAAGAGGAAAG 0.398 NA C||| 1102 0.220048 0.1513 0.1758 5008 , , NA 21869 0.1935 NA 0.2684 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr18.hg19:g.57864092C>G NA hg19 0.02 4.711506 ATTxAAG COVERED NOVEL 0 0 4.213449 KEEP 0 0 0 14 475 CC 0.995343 0.995343 0 9 60 330 0 0 22.739402 135 60 5048 165 0.0625 1 MC4R 4160 __UNKNOWN__ __UNKNOWN__ 18 58039760 58039760 __UNKNOWN__ 5'UTR SNP T T G rs34114122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:58039760T>G ENST00000299766.3 - 0 241 NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor NA NA adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868) integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625) endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) TAGTCTCTTTTAGGTACGACT 0.383 NA T||| 302 0.0603035 0.1399 0.0259 5008 , , NA 20528 0.0367 NA 0.0109 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AY236539 CCDS11976.1 18q22 2012-08-10 ENSG00000166603 ENSG00000166603 4160 GPCR / Class A : Melanocortin receptors 6932 protein-coding gene gene with protein product 155541 NA 7949735, 9763669 Standard NM_005912 NM_005912 NA Approved uc002lie.1 P32245 OTTHUMG00000132766 ENST00000299766.3:c.-178A>C chr18.hg19:g.58039760T>G NA B2RAC3|Q16317|Q3MIJ6 hg19 CCDS11976.1 0.02 4.508415 TTTxAGG COVERED NOVEL MC4R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256139.1 1 6.016971 KEEP 0 0 0 20 599 TT 0.999863 0.999863 0 - 5 60 185 0 0 11.635694 128 60 4619 179 ENST00000299766.3 0.037594 1 TNFRSF11A 8792 __UNKNOWN__ __UNKNOWN__ 18 60015542 60015542 __UNKNOWN__ Intron SNP T T C rs3826618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:60015542T>C ENST00000586569.1 + 2 195 TNFRSF11A_ENST00000269485.7_Intron NM_001270949.1|NM_003839.3 NP_001257878.1|NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator NA NA adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021) cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) GCTTTCATTATTTTTTCTGTC 0.438 NA T||| 704 0.140575 0.2042 0.1124 5008 , , NA 16310 0.2907 NA 0.002 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 T 210,1174 19,172,501 64 54 57 -2.9 0 18 dbSNP_107 57 6,3176 0,6,1585 no intron TNFRSF11A NM_003839.2 19,178,2086 CC,CT,TT 0.1886,15.1734,4.7306 60015542 216,4350 692 1591 2283 SO:0001627 intron_variant AF018253 CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1 18q22.1 2014-09-17 ENSG00000141655 ENSG00000141655 8792 Tumor necrosis factor receptor superfamily, CD molecules 11908 protein-coding gene gene with protein product 603499 tumor necrosis factor receptor superfamily, member 11a, activator of NFKB, Paget disease of bone 2, loss of heterozygosity, 18, chromosomal region 1 PDB2, LOH18CR1 NA 9367155, 10615125 Standard NM_001270951 NA Approved RANK, CD265, FEO uc002lin.4 Q9Y6Q6 OTTHUMG00000132779 ENST00000586569.1:c.157+60T>C chr18.hg19:g.60015542T>C NA I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9 hg19 CCDS11980.1 0.02 6.995519 TTAxTTT COVERED NOVEL TNFRSF11A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256186.2 1 7.222344 KEEP 0 0 0 24 770 TT 0.999909 0.999909 0 + 8 60 313 0 0 20.714925 182 60 6668 276 ENST00000586569.1 0.042105 1 BCL2 596 __UNKNOWN__ __UNKNOWN__ 18 60794654 60794654 __UNKNOWN__ 3'UTR SNP C C T rs1564483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:60794654C>T ENST00000398117.1 - 0 3385 BCL2_ENST00000333681.4_3'UTR NM_000633.2 NP_000624.2 P10415 BCL2_HUMAN B-cell CLL/lymphoma 2 NA NA actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930) BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3) 113 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367) TAAGAAGGGTCGTGGCTCCCA 0.577 NA T IGH@ NHL, CLL C||| 1115 0.222644 0.1067 0.1398 5008 , , NA 19134 0.3998 NA 0.2515 False NA ,,, NA NA NA 2504 0.226 NA NA NA Dom yes 18 18q21.3 596 B-cell CLL/lymphoma 2 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M14745 CCDS11981.1, CCDS45882.1 18q21.3 2014-03-07 ENSG00000171791 ENSG00000171791 596 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 990 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 50 151430 NA Standard NM_000633, NM_000657 XM_006722523 NA Approved Bcl-2, PPP1R50 uc002lit.1 P10415 OTTHUMG00000132791 ENST00000398117.1:c.*1204G>A chr18.hg19:g.60794654C>T NA C9JHD5|P10416|Q13842|Q16197 hg19 CCDS11981.1 0.02 9.773923 GGTxGTG COVERED NOVEL BCL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256199.1 3 16.852976 KEEP 0 0 0 56 1867 CC 1 1 0 - 9 60 298 0 0 17.020291 260 60 8873 383 ENST00000398117.1 0.033457 1 BCL2 596 __UNKNOWN__ __UNKNOWN__ 18 60985773 60985773 __UNKNOWN__ Missense_Mutation SNP C C T rs1800477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:60985773C>T ENST00000398117.1 - 1 1588 c.127G>A c.(127-129)Gcc>Acc p.A43T BCL2_ENST00000444484.1_Missense_Mutation_p.A43T|BCL2_ENST00000333681.4_Missense_Mutation_p.A43T|BCL2_ENST00000589955.1_Missense_Mutation_p.A43T NM_000633.2 NP_000624.2 P10415 BCL2_HUMAN B-cell CLL/lymphoma 2 43 NA A -> T (in dbSNP:rs1800477). {ECO:0000269|Ref.6}. actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930) BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3) 113 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367) GGTgcgggggcggcccccggg 0.697 NA T IGH@ NHL, CLL C||| 199 0.0397364 0.0 0.0 5008 , , NA 10413 0.0952 NA 0.0 False NA ,,, NA NA NA 2504 0.1053 NA NA NA Dom yes 18 18q21.3 596 B-cell CLL/lymphoma 2 L 0 GRCh37 CM980213 BCL2 M rs1800477 C THR/ALA,THR/ALA 6,3742 0,6,1868 24 30 29 127,127 1.6 0.1 18 dbSNP_89 29 2,8058 0,2,4028 no missense,missense BCL2 NM_000633.2,NM_000657.2 58,58 0,8,5896 TT,TC,CC 0.0248,0.1601,0.0678 benign,benign 43/240,43/206 60985773 8,11800 1874 4030 5904 SO:0001583 missense M14745 CCDS11981.1, CCDS45882.1 18q21.3 2014-03-07 ENSG00000171791 ENSG00000171791 596 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 990 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 50 151430 NA Standard NM_000633, NM_000657 XM_006722523 NA Approved Bcl-2, PPP1R50 uc002lit.1 P10415 OTTHUMG00000132791 ENST00000398117.1:c.127G>A chr18.hg19:g.60985773C>T ENSP00000381185:p.Ala43Thr NA C9JHD5|P10416|Q13842|Q16197 hg19 CCDS11981.1 0.02 9.733748 GGGxGGC COVERED 45 0.020604395604395604 2 0.0040650406504065045 0 0.0 43 0.07517482517482517 0 0.0 C 5.526 0.282025 0.10458 0.001601 2.48E-4 ENSG00000171791 ENST00000398117;ENST00000333681;ENST00000444484 T;T;T 0.04275 3.66;3.66;3.66 4.33 1.57 0.23409 . 1.321060 0.05649 U 0.584839 T 0.00300 0.0009 N 0.19112 0.55 0.21897 N 0.999483 B;D 0.64830 0.095;0.994 B;P 0.51266 0.01;0.664 T 0.34453 -0.9828 10 0.07990 T 0.79 -4.8394 7.734 0.28804 0.0:0.6723:0.0:0.3277 rs1800477;rs4987709;rs1800477 43;43 C9JHD5;P10415 .;BCL2_HUMAN T 43 ENSP00000381185:A43T;ENSP00000329623:A43T;ENSP00000404214:A43T ENSP00000329623:A43T A - 1 0 BCL2 59136753 0.057000 0.20700 0.111000 0.21465 0.075000 0.17131 0.209000 0.17435 0.127000 0.18452 0.436000 0.28706 GCC NOVEL BCL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256199.1 4 57.118648 KEEP 0 0 0 190 6577 CC 1 1 0 - 12 60 371 0 1 20.46073 320 60 10897 672 ENST00000398117.1 0.036145 1 SERPINB5 5268 __UNKNOWN__ __UNKNOWN__ 18 61151697 61151697 __UNKNOWN__ Silent SNP C C T rs2292294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61151697C>T ENST00000382771.4 + 2 328 c.36C>T c.(34-36)gcC>gcT p.A12A SERPINB5_ENST00000489441.1_Silent_p.A12A NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 12 NA cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) serine-type endopeptidase inhibitor activity (GO:0004867) kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 CGGCTTTTGCCGTTGATCTGT 0.483 NA c||| 301 0.0601038 0.1203 0.0101 5008 , , NA 18400 0.12 NA 0.0 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 T 504,3902 233.6+/-246.7 36,432,1735 112 107 108 36 -5.8 0.9 18 dbSNP_100 108 7,8593 5.7+/-21.5 0,7,4293 no coding-synonymous SERPINB5 NM_002639.4 36,439,6028 TT,TC,CC 0.0814,11.4389,3.929 12/376 61151697 511,12495 2203 4300 6503 SO:0001819 synonymous_variant U04313 CCDS32839.1 18q21.33 2014-02-18 2005-08-18 ENSG00000206075 ENSG00000206075 5268 Serine (or cysteine) peptidase inhibitors 8949 protein-coding gene gene with protein product protease inhibitor 5 (maspin) 154790 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5 PI5 NA 8290962, 7724531, 16720730, 24172014 Standard NM_002639 NM_002639 NA Approved maspin uc002liz.4 P36952 OTTHUMG00000141307 ENST00000382771.4:c.36C>T chr18.hg19:g.61151697C>T NA B2R6Y4|Q6N0B4|Q8WW89 hg19 CCDS32839.1 0.02 6.0276 TGCxGTT COVERED NOVEL SERPINB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280629.1 3 6.61545 KEEP 0 0 0 22 736 CC 0.999879 0.999879 0 + 7 60 261 0 0 16.299268 191 60 6607 256 ENST00000382771.4 0.035354 1 SERPINB5 5268 __UNKNOWN__ __UNKNOWN__ 18 61160320 61160320 __UNKNOWN__ Missense_Mutation SNP G G C rs2289520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61160320G>C ENST00000382771.4 + 5 851 c.559G>C c.(559-561)Gtc>Ctc p.V187L SERPINB5_ENST00000464346.1_3'UTR|SERPINB5_ENST00000489441.1_Missense_Mutation_p.V187L NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 187 NA V -> L (in dbSNP:rs2289520). {ECO:0000269|PubMed:8290962}. cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) serine-type endopeptidase inhibitor activity (GO:0004867) kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 TCCTTTCAGAGTCAACAAGGT 0.413 NA G||| 1547 0.308906 0.6316 0.1527 5008 , , NA 21022 0.2222 NA 0.0785 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 G LEU/VAL 2380,2026 613.1+/-392.1 647,1086,470 83 81 82 559 0.3 1 18 dbSNP_100 82 564,8036 154.0+/-208.3 20,524,3756 yes missense SERPINB5 NM_002639.4 32 667,1610,4226 CC,CG,GG 6.5581,45.9828,22.6357 benign 187/376 61160320 2944,10062 2203 4300 6503 SO:0001583 missense U04313 CCDS32839.1 18q21.33 2014-02-18 2005-08-18 ENSG00000206075 ENSG00000206075 5268 Serine (or cysteine) peptidase inhibitors 8949 protein-coding gene gene with protein product protease inhibitor 5 (maspin) 154790 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5 PI5 NA 8290962, 7724531, 16720730, 24172014 Standard NM_002639 NM_002639 NA Approved maspin uc002liz.4 P36952 OTTHUMG00000141307 ENST00000382771.4:c.559G>C chr18.hg19:g.61160320G>C ENSP00000372221:p.Val187Leu NA B2R6Y4|Q6N0B4|Q8WW89 hg19 CCDS32839.1 0.02 13.28623 AGAxTCA COVERED 515 0.2358058608058608 311 0.6321138211382114 42 0.11602209944751381 111 0.19405594405594406 51 0.06728232189973615 G 4.710 0.131937 0.08981 0.540172 0.065581 ENSG00000206075 ENST00000382771 T 0.17370 2.28 6.05 0.338 0.15974 Serpin domain (3); 0.442462 0.22622 N 0.057688 T 0.00012 0.0000 N 0.11845 0.185 0.35936 P 0.16709399999999996 B;B 0.16603 0.006;0.018 B;B 0.14023 0.009;0.01 T 0.39542 -0.9609 9 0.06236 T 0.91 . 9.3317 0.38025 0.5586:0.0:0.4414:0.0 rs2289520;rs17071197;rs52826237;rs60369335;rs2289520 187;187 P36952;P36952-2 SPB5_HUMAN;. L 187 ENSP00000372221:V187L ENSP00000372221:V187L V + 1 0 SERPINB5 59311300 0.978000 0.34361 0.999000 0.59377 0.985000 0.73830 0.260000 0.18424 0.113000 0.18004 0.655000 0.94253 GTC NOVEL SERPINB5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280629.1 0 16.2526 KEEP 0 0 0 54 1920 GG 1 1 0 + 17 60 629 0 0 42.07797 307 60 11418 425 ENST00000382771.4 0.052469 1 SERPINB3 6317 __UNKNOWN__ __UNKNOWN__ 18 61322995 61322995 __UNKNOWN__ Missense_Mutation SNP T T C rs1065205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61322995T>C ENST00000283752.5 - 8 1212 c.1069A>G c.(1069-1071)Act>Gct p.T357A SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.T305A NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 357 NA T -> A (in dbSNP:rs1065205). {ECO:0000269|PubMed:1958219, ECO:0000269|Ref.3, ECO:0000269|Ref.9}. negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982) serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TTAGTTGAAGTAGGTGATGAT 0.473 NA T||| 964 0.192492 0.0825 0.2017 5008 , , NA 20327 0.4405 NA 0.0865 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 T ALA/THR 375,4031 190.2+/-216.2 32,311,1860 147 148 148 1069 -5.9 0 18 dbSNP_86 148 731,7869 177.8+/-227.3 26,679,3595 no missense SERPINB3 NM_006919.2 58 58,990,5455 CC,CT,TT 8.5,8.5111,8.5038 benign 357/391 61322995 1106,11900 2203 4300 6503 SO:0001583 missense U19568 CCDS11987.1 18q21.3 2014-02-18 2005-08-18 ENSG00000057149 ENSG00000057149 6317 Serine (or cysteine) peptidase inhibitors 10569 protein-coding gene gene with protein product 600517 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3 SCC, SCCA1 NA 7724531, 24172014 Standard NM_006919 NM_006919 NA Approved T4-A, HsT1196 uc002lji.3 P29508 OTTHUMG00000060403 ENST00000283752.5:c.1069A>G chr18.hg19:g.61322995T>C ENSP00000283752:p.Thr357Ala NA A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8 hg19 CCDS11987.1 0.02 27.78215 AAGxAGG COVERED 417 0.19093406593406592 50 0.1016260162601626 70 0.19337016574585636 228 0.3986013986013986 69 0.09102902374670185 T 0.531 -0.857900 0.02610 0.085111 0.085 ENSG00000057149 ENST00000283752;ENST00000332821 D;D 0.82344 -1.6;-1.6 2.96 -5.92 0.02261 Serpin domain (3); . . . . T 0.00012 0.0000 N 0.01809 -0.71 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.07947 -1.0746 8 0.05833 T 0.94 . 0.8688 0.01210 0.3065:0.2008:0.1067:0.386 rs1065205;rs3169980;rs52799665;rs56795109;rs1065205 305;357 P29508-2;P29508 .;SPB3_HUMAN A 357;305 ENSP00000283752:T357A;ENSP00000329498:T305A ENSP00000283752:T357A T - 1 0 SERPINB3 59473975 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -7.571000 0.00034 -1.670000 0.01468 -1.855000 0.00564 ACT NOVEL SERPINB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000133791.1 2 13.237421 KEEP 0 0 0 44 1327 TT 1 1 0 - 19 60 724 0 0 44.40191 616 60 21518 774 ENST00000283752.5 0.029921 1 SERPINB7 8710 __UNKNOWN__ __UNKNOWN__ 18 61465810 61465810 __UNKNOWN__ Intron SNP A A G rs1720858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61465810A>G ENST00000398019.2 + 6 779 SERPINB7_ENST00000546027.1_Intron|SERPINB7_ENST00000336429.2_Intron|SERPINB7_ENST00000540675.1_Intron NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 NA NA negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) taaaataaaCATTTTTCCCTC 0.279 NA G||| 3271 0.653155 0.7557 0.6023 5008 , , NA 17275 0.7183 NA 0.502 False NA ,,, NA NA NA 2504 0.6391 NA NA NA NA 0 G , 3242,1164 397.0+/-330.2 1198,846,159 37 36 36 , -12 0 18 dbSNP_89 36 4439,4161 552.3+/-386.1 1129,2181,990 no intron,intron SERPINB7 NM_001040147.1,NM_003784.2 , 2327,3027,1149 GG,GA,AA 48.3837,26.4185,40.9426 , , 61465810 7681,5325 2203 4300 6503 SO:0001627 intron_variant AF027866 CCDS11988.1, CCDS58633.1 18q21.33 2014-02-18 2005-08-18 ENSG00000166396 ENSG00000166396 8710 Serine (or cysteine) peptidase inhibitors 13902 protein-coding gene gene with protein product 603357 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7 NA 24172014 Standard NM_003784 NM_003784 NA Approved MEGSIN uc002ljl.4 O75635 OTTHUMG00000060591 ENST00000398019.2:c.455-28A>G chr18.hg19:g.61465810A>G NA B4DUW8|F5GZC0|Q1ED45|Q3KPG4 hg19 CCDS11988.1 0.02 3.602319 AACxTTT COVERED NOVEL SERPINB7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134007.1 0 5.416669 KEEP 0 0 0 18 572 AA 0.999859 0.999859 0 + 8 60 253 0 0 15.997926 125 60 4478 171 ENST00000398019.2 0.06015 1 SERPINB7 8710 __UNKNOWN__ __UNKNOWN__ 18 61471662 61471662 __UNKNOWN__ Silent SNP G G T rs34505921 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61471662G>T ENST00000398019.2 + 8 1261 c.936G>T c.(934-936)tcG>tcT p.S312S SERPINB7_ENST00000546027.1_Silent_p.S312S|SERPINB7_ENST00000336429.2_Silent_p.S312S|SERPINB7_ENST00000540675.1_Silent_p.S295S NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 312 NA negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GGATTGCTTCGGGGGGTCGTC 0.428 NA A||| 254 0.0507188 0.084 0.0432 5008 , , NA 18164 0.0238 NA 0.0179 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 A , 312,4092 11,290,1901 44 46 46 936,936 -12.2 0 18 dbSNP_126 46 199,8401 1,197,4102 no coding-synonymous,coding-synonymous SERPINB7 NM_001040147.1,NM_003784.2 , 12,487,6003 TT,TG,GG 2.314,7.0845,3.9296 , 312/381,312/381 61471662 511,12493 2202 4300 6502 SO:0001819 synonymous_variant AF027866 CCDS11988.1, CCDS58633.1 18q21.33 2014-02-18 2005-08-18 ENSG00000166396 ENSG00000166396 8710 Serine (or cysteine) peptidase inhibitors 13902 protein-coding gene gene with protein product 603357 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7 NA 24172014 Standard NM_003784 NM_003784 NA Approved MEGSIN uc002ljl.4 O75635 OTTHUMG00000060591 ENST00000398019.2:c.936G>T chr18.hg19:g.61471662G>T NA B4DUW8|F5GZC0|Q1ED45|Q3KPG4 hg19 CCDS11988.1 0.02 12.495926 TTCxGGG COVERED NOVEL SERPINB7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134007.1 0 9.328788 KEEP 0 0 0 31 1059 GG 0.999997 0.999997 0 + 11 60 394 0 0 23.851759 312 60 10904 417 ENST00000398019.2 0.034056 1 SERPINB7 8710 __UNKNOWN__ __UNKNOWN__ 18 61471887 61471887 __UNKNOWN__ 3'UTR SNP G G A rs1625353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61471887G>A ENST00000398019.2 + 0 1486 SERPINB7_ENST00000546027.1_3'UTR|SERPINB7_ENST00000336429.2_3'UTR|SERPINB7_ENST00000540675.1_3'UTR NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 NA NA negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) ATTGGTTTCTGTTATAGCAGT 0.373 NA A||| 1572 0.313898 0.5129 0.196 5008 , , NA 20975 0.4355 NA 0.0845 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 A , 1987,2419 589.2+/-387.1 458,1071,674 47 48 48 , -2.8 0 18 dbSNP_89 48 674,7926 772.2+/-407.7 22,630,3648 no utr-3,utr-3 SERPINB7 NM_001040147.1,NM_003784.2 , 480,1701,4322 AA,AG,GG 7.8372,45.0976,20.4598 , , 61471887 2661,10345 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF027866 CCDS11988.1, CCDS58633.1 18q21.33 2014-02-18 2005-08-18 ENSG00000166396 ENSG00000166396 8710 Serine (or cysteine) peptidase inhibitors 13902 protein-coding gene gene with protein product 603357 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7 NA 24172014 Standard NM_003784 NM_003784 NA Approved MEGSIN uc002ljl.4 O75635 OTTHUMG00000060591 ENST00000398019.2:c.*18G>A chr18.hg19:g.61471887G>A NA B4DUW8|F5GZC0|Q1ED45|Q3KPG4 hg19 CCDS11988.1 0.02 19.329959 TCTxTTA COVERED NOVEL SERPINB7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134007.1 3 7.825537 KEEP 0 0 0 26 926 GG 0.999957 0.999957 0 + 18 60 645 0 0 40.062737 445 60 16961 596 ENST00000398019.2 0.038877 1 SERPINB2 5055 __UNKNOWN__ __UNKNOWN__ 18 61558656 61558656 __UNKNOWN__ Intron SNP C C G rs6095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61558656C>G ENST00000299502.4 + 2 71 SERPINB2_ENST00000457692.1_Intron NM_002575.2 NP_002566.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 NA NA blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Tenecteplase(DB00031)|Urokinase(DB00013) TTTTCTTCCTCTCTTTGCTTC 0.448 NA C||| 2228 0.444888 0.7057 0.3963 5008 , , NA 21676 0.499 NA 0.2336 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 C , 2793,1613 662.7+/-401.1 878,1037,288 79 80 80 , -1.6 0 18 dbSNP_52 80 1892,6708 336.5+/-321.9 209,1474,2617 no intron,intron SERPINB2 NM_001143818.1,NM_002575.2 , 1087,2511,2905 GG,GC,CC 22.0,36.6092,36.0218 , , 61558656 4685,8321 2203 4300 6503 SO:0001627 intron_variant Y00630 CCDS11989.1 18q21.3 2014-02-18 2005-08-18 ENSG00000197632 ENSG00000197632 5055 Serine (or cysteine) peptidase inhibitors 8584 protein-coding gene gene with protein product 173390 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2 PLANH2, PAI2 NA 24172014 Standard NM_002575 NM_002575 NA Approved HsT1201 uc002ljo.3 P05120 OTTHUMG00000060592 ENST00000299502.4:c.-9-14C>G chr18.hg19:g.61558656C>G NA Q96E96 hg19 CCDS11989.1 0.02 40.708588 CCTxTCT COVERED NOVEL SERPINB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134009.1 3 17.156172 KEEP 0 0 0 57 2044 CC 1 1 0 + 55 60 2052 0 0 142.577557 809 60 30771 1064 ENST00000299502.4 0.063657 1 SERPINB2 5055 __UNKNOWN__ __UNKNOWN__ 18 61564394 61564394 __UNKNOWN__ Missense_Mutation SNP A A G rs6098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61564394A>G ENST00000299502.4 + 4 438 c.358A>G c.(358-360)Aat>Gat p.N120D SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.N120D NM_002575.2 NP_002566.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 120 NA N -> D (in dbSNP:rs6098). {ECO:0000269|PubMed:10391209}. blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Tenecteplase(DB00031)|Urokinase(DB00013) ATCCACAGGGAATTATTTACT 0.408 NA G||| 1748 0.349042 0.3661 0.3559 5008 , , NA 18272 0.499 NA 0.2296 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 G ASP/ASN,ASP/ASN 1626,2780 661.1+/-400.8 294,1038,871 108 107 108 358,358 4.1 0.1 18 dbSNP_52 108 1878,6722 728.6+/-406.7 206,1466,2628 yes missense,missense SERPINB2 NM_001143818.1,NM_002575.2 23,23 500,2504,3499 GG,GA,AA 21.8372,36.9042,26.9414 benign,benign 120/416,120/416 61564394 3504,9502 2203 4300 6503 SO:0001583 missense Y00630 CCDS11989.1 18q21.3 2014-02-18 2005-08-18 ENSG00000197632 ENSG00000197632 5055 Serine (or cysteine) peptidase inhibitors 8584 protein-coding gene gene with protein product 173390 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2 PLANH2, PAI2 NA 24172014 Standard NM_002575 NM_002575 NA Approved HsT1201 uc002ljo.3 P05120 OTTHUMG00000060592 ENST00000299502.4:c.358A>G chr18.hg19:g.61564394A>G ENSP00000299502:p.Asn120Asp NA Q96E96 hg19 CCDS11989.1 0.02 19.090652 GGGxATT COVERED 720 0.32967032967032966 172 0.34959349593495936 118 0.3259668508287293 261 0.4562937062937063 169 0.22295514511873352 G 9.952 1.220485 0.22457 0.369042 0.218372 ENSG00000197632 ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281 T;T;D;D 0.83914 2.85;2.85;-1.53;-1.78 5.93 4.13 0.48395 Serpin domain (3); 0.896348 0.09903 N 0.740770 T 0.00012 0.0000 N 0.01197 -0.965 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.36504 -0.9745 8 . . . . 6.7175 0.23312 0.2126:0.1262:0.6612:0.0 rs6098;rs3169981;rs52838286;rs59526530;rs6098 120 P05120 PAI2_HUMAN D 120 ENSP00000299502:N120D;ENSP00000401645:N120D;ENSP00000402386:N120D;ENSP00000397096:N120D . N + 1 0 SERPINB2 59715374 0.000000 0.05858 0.121000 0.21740 0.697000 0.40408 0.618000 0.24373 0.865000 0.35603 -0.119000 0.15052 AAT NOVEL SERPINB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134009.1 2 14.442354 KEEP 0 0 0 48 1498 AA 1 1 0 + 15 60 584 0 0 37.432041 407 60 14734 563 ENST00000299502.4 0.035545 1 SERPINB10 5273 __UNKNOWN__ __UNKNOWN__ 18 61582751 61582751 __UNKNOWN__ Missense_Mutation SNP T T G rs17072097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61582751T>G ENST00000238508.3 + 2 66 c.7T>G c.(7-9)Tct>Gct p.S3A NM_005024.1 NP_005015.1 P48595 SPB10_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 10 3 NA S -> A (in dbSNP:rs17072097). negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) serine-type endopeptidase inhibitor activity (GO:0004867) p.S3A(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CTCAATGGACTCTCTAGCAAC 0.348 NA G||| 1402 0.279952 0.4123 0.3127 5008 , , NA 19162 0.248 NA 0.1998 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 1 Substitution - Missense(1) stomach(1) G ALA/SER 1734,2672 647.9+/-398.6 341,1052,810 82 82 82 7 0.6 0 18 dbSNP_123 82 1617,6983 741.1+/-407.1 145,1327,2828 yes missense SERPINB10 NM_005024.1 99 486,2379,3638 GG,GT,TT 18.8023,39.3554,25.765 3/398 61582751 3351,9655 2203 4300 6503 SO:0001583 missense U35459 CCDS11990.1 18q21.3 2014-02-18 2005-08-18 ENSG00000242550 ENSG00000242550 5273 Serine (or cysteine) peptidase inhibitors 8942 protein-coding gene gene with protein product protease inhibitor 10 (ovalbumin type, bomapin) 602058 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10 PI10 NA 9268635, 10871600, 24172014 Standard NM_005024 NM_005024 NA Approved bomapin P48595 OTTHUMG00000060594 ENST00000238508.3:c.7T>G chr18.hg19:g.61582751T>G ENSP00000238508:p.Ser3Ala NA Q4VAX4|Q4VAX7 hg19 CCDS11990.1 0.02 21.500084 GACxCTC COVERED 550|550 0.2518315018315018|0.2518315018315018 186|186 0.3780487804878049|0.3780487804878049 107|107 0.2955801104972376|0.2955801104972376 115|115 0.20104895104895104|0.20104895104895104 142|142 0.18733509234828497|0.18733509234828497 G|G 0.005|0.005 -2.159978|-2.159978 0.00321|0.00321 0.393554|0.393554 0.188023|0.188023 ENSG00000242550|ENSG00000242550 ENST00000397996;ENST00000418725|ENST00000238508 .|D .|0.82433 .|-1.61 5.97|5.97 0.577|0.577 0.17385|0.17385 .|Serpin domain (1); .|0.538205 .|0.21214 .|N .|0.078260 T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.41124|0.41124 1.26|1.26 0.80722|0.80722 P|P 0.0|0.0 .|B;B .|0.06786 .|0.001;0.0 .|B;B .|0.04013 .|0.001;0.001 T|T 0.21008|0.21008 -1.0258|-1.0258 4|9 .|0.11182 .|T .|0.66 .|. 1.6638|1.6638 0.02797|0.02797 0.1955:0.1217:0.2005:0.4822|0.1955:0.1217:0.2005:0.4822 rs17072097;rs52808370;rs57746168;rs17072097|rs17072097;rs52808370;rs57746168;rs17072097 .|3;3 .|P48595;B2RC45 .|SPB10_HUMAN;. R|A 215;188|3 .|ENSP00000238508:S3A .|ENSP00000238508:S3A L|S +|+ 2|1 0|0 SERPINB10|SERPINB10 59733731|59733731 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 -0.156000|-0.156000 0.10100|0.10100 -0.300000|-0.300000 0.08895|0.08895 -4.888000|-4.888000 0.00002|0.00002 CTC|TCT NOVEL SERPINB10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134012.3 4 16.246083 KEEP 0 0 0 54 1711 TT 1 1 0 + 19 60 668 0 0 40.63415 492 60 18419 706 ENST00000238508.3 0.037182 1 SERPINB10 5273 __UNKNOWN__ __UNKNOWN__ 18 61582867 61582867 __UNKNOWN__ Missense_Mutation SNP A A G rs8097425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61582867A>G ENST00000238508.3 + 2 182 c.123A>G c.(121-123)atA>atG p.I41M NM_005024.1 NP_005015.1 P48595 SPB10_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 10 41 NA I -> M (in dbSNP:rs8097425). negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) serine-type endopeptidase inhibitor activity (GO:0004867) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCTTGACCATAGTGTATTTGG 0.448 NA G||| 2366 0.472444 0.8464 0.3991 5008 , , NA 17129 0.4623 NA 0.2247 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 G MET/ILE 3266,1140 406.9+/-334.0 1211,844,148 84 84 84 123 5.8 1 18 dbSNP_116 84 1752,6848 734.8+/-406.9 186,1380,2734 yes missense SERPINB10 NM_005024.1 10 1397,2224,2882 GG,GA,AA 20.3721,25.8738,38.5822 41/398 61582867 5018,7988 2203 4300 6503 SO:0001583 missense U35459 CCDS11990.1 18q21.3 2014-02-18 2005-08-18 ENSG00000242550 ENSG00000242550 5273 Serine (or cysteine) peptidase inhibitors 8942 protein-coding gene gene with protein product protease inhibitor 10 (ovalbumin type, bomapin) 602058 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10 PI10 NA 9268635, 10871600, 24172014 Standard NM_005024 NM_005024 NA Approved bomapin P48595 OTTHUMG00000060594 ENST00000238508.3:c.123A>G chr18.hg19:g.61582867A>G ENSP00000238508:p.Ile41Met NA Q4VAX4|Q4VAX7 hg19 CCDS11990.1 0.02 14.330261 CATxGTG COVERED 933|933 0.4271978021978022|0.4271978021978022 392|392 0.7967479674796748|0.7967479674796748 136|136 0.3756906077348066|0.3756906077348066 243|243 0.42482517482517484|0.42482517482517484 162|162 0.21372031662269128|0.21372031662269128 G|G 0.542|0.542 -0.853253|-0.853253 0.02630|0.02630 0.741262|0.741262 0.203721|0.203721 ENSG00000242550|ENSG00000242550 ENST00000238508|ENST00000397996;ENST00000418725 D|. 0.82344|. -1.6|. 5.85|5.85 5.85|5.85 0.93711|0.93711 Serpin domain (3);|. 0.000000|. 0.85682|. N|. 0.000000|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.00022|0.00022 -2.735|-2.735 0.49915|0.49915 P|P 1.6199999999999548E-4|1.6199999999999548E-4 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.35895|0.35895 -0.9770|-0.9770 9|4 0.02654|. T|. 1|. .|. 13.9957|13.9957 0.64397|0.64397 0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0 rs8097425;rs52793663;rs60772677;rs8097425|rs8097425;rs52793663;rs60772677;rs8097425 41|. P48595|. SPB10_HUMAN|. M|G 41|254;227 ENSP00000238508:I41M|. ENSP00000238508:I41M|. I|S +|+ 3|1 3|0 SERPINB10|SERPINB10 59733847|59733847 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.170000|0.170000 0.22686|0.22686 4.155000|4.155000 0.58131|0.58131 1.498000|1.498000 0.48600|0.48600 -0.128000|-0.128000 0.14901|0.14901 ATA|AGT NOVEL SERPINB10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134012.3 1 8.72489 KEEP 0 0 0 29 889 AA 0.999997 0.999997 0 + 18 60 669 0 0 45.159851 312 60 11540 396 ENST00000238508.3 0.054545 1 SERPINB10 5273 __UNKNOWN__ __UNKNOWN__ 18 61585260 61585260 __UNKNOWN__ Missense_Mutation SNP T T C rs724558 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61585260T>C ENST00000238508.3 + 4 355 c.296T>C c.(295-297)aTc>aCc p.I99T NM_005024.1 NP_005015.1 P48595 SPB10_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 10 99 NA I -> T (in dbSNP:rs724558). negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634) serine-type endopeptidase inhibitor activity (GO:0004867) p.I99T(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) ATCTCAGAAATCCTCAAGCCC 0.343 NA T||| 1241 0.247804 0.3003 0.2954 5008 , , NA 19842 0.25 NA 0.1968 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T THR/ILE 1379,3025 453.4+/-350.3 219,941,1042 94 88 90 296 5.8 0.9 18 dbSNP_86 90 1609,6991 297.1+/-303.3 146,1317,2837 yes missense SERPINB10 NM_005024.1 89 365,2258,3879 CC,CT,TT 18.7093,31.3124,22.9775 99/398 61585260 2988,10016 2202 4300 6502 SO:0001583 missense U35459 CCDS11990.1 18q21.3 2014-02-18 2005-08-18 ENSG00000242550 ENSG00000242550 5273 Serine (or cysteine) peptidase inhibitors 8942 protein-coding gene gene with protein product protease inhibitor 10 (ovalbumin type, bomapin) 602058 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10 PI10 NA 9268635, 10871600, 24172014 Standard NM_005024 NM_005024 NA Approved bomapin P48595 OTTHUMG00000060594 ENST00000238508.3:c.296T>C chr18.hg19:g.61585260T>C ENSP00000238508:p.Ile99Thr NA Q4VAX4|Q4VAX7 hg19 CCDS11990.1 0.02 6.02405 AAAxCCT COVERED 497 0.22756410256410256 140 0.2845528455284553 100 0.27624309392265195 117 0.20454545454545456 140 0.18469656992084432 T 16.54 3.150615 0.57151 0.313124 0.187093 ENSG00000242550 ENST00000238508 D 0.85339 -1.97 5.82 5.82 0.92795 Serpin domain (3); 0.118518 0.64402 D 0.000017 T 0.00039 0.0001 M 0.74546 2.27 0.26773 P 0.9697622 D 0.89917 1.0 D 0.87578 0.998 T 0.00000 -1.3326 9 0.56958 D 0.05 . 14.1425 0.65329 0.0:0.0:0.0:1.0 rs724558;rs52793058;rs57025225;rs724558 99 P48595 SPB10_HUMAN T 99 ENSP00000238508:I99T ENSP00000238508:I99T I + 2 0 SERPINB10 59736240 1.000000 0.71417 0.904000 0.35570 0.404000 0.30871 4.786000 0.62425 2.231000 0.72958 0.528000 0.53228 ATC NOVEL SERPINB10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134012.3 0 6.018481 KEEP 0 0 0 20 641 TT 0.999863 0.999863 0 + 6 60 220 0 0 13.342786 181 60 6707 251 ENST00000238508.3 0.032086 1 HMSD 284293 __UNKNOWN__ __UNKNOWN__ 18 61620766 61620766 __UNKNOWN__ Intron SNP G G A rs9945924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61620766G>A ENST00000408945.3 + 2 274 HMSD_ENST00000481726.1_Intron NM_001123366.1 NP_001116838.1 A8MTL9 HMSD_HUMAN histocompatibility (minor) serpin domain containing NA NA extracellular space (GO:0005615) serine-type endopeptidase inhibitor activity (GO:0004867) p.?(1) kidney(1)|large_intestine(2)|lung(2)|stomach(1) 6 TCTCAGGTACGTAAAGCCACT 0.413 NA G||| 1412 0.281949 0.41 0.2896 5008 , , NA 21010 0.2589 NA 0.2177 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 1 Unknown(1) stomach(1) GRCh37 CS077655 HMSD S rs9945924 G 1222,1914 231,760,577 62 54 56 http://www.ncbi.nlm.nih.gov/sites/varvu?gene -3.4 0 18 dbSNP_119 56 1467,5697 163,1141,2278 no intron HMSD NM_001123366.1 394,1901,2855 AA,AG,GG 20.4774,38.9668,26.1068 61620766 2689,7611 1568 3582 5150 SO:0001627 intron_variant AC009802 CCDS42441.1 18q21.33 2008-02-04 ENSG00000221887 ENSG00000221887 284293 23037 protein-coding gene gene with protein product 612086 C18orf53 NA 17409267 Standard XM_209104 NM_001123366 NA Approved ACC-6 uc010dqj.3 A8MTL9 OTTHUMG00000060593 ENST00000408945.3:c.72+5G>A chr18.hg19:g.61620766G>A NA hg19 CCDS42441.1 0.02 17.531984 TACxTAA COVERED NOVEL HMSD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000134010.2 3 9.314349 KEEP 0 0 0 31 1062 GG 0.999997 0.999997 0 + 11 60 420 0 0 25.031339 419 60 15159 546 ENST00000408945.3 0.025581 1 SERPINB8 5271 __UNKNOWN__ __UNKNOWN__ 18 61650865 61650865 __UNKNOWN__ Silent SNP G G A rs11537989 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:61650865G>A ENST00000397988.3 + 5 539 c.477G>A c.(475-477)ctG>ctA p.L159L SERPINB8_ENST00000353706.2_Silent_p.L159L|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397985.2_Silent_p.L159L NM_001031848.1 NP_001027018.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 159 NA negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) serine-type endopeptidase inhibitor activity (GO:0004867) breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) TGACAAAGCTGGTCCTTGTGA 0.408 NA G||| 1082 0.216054 0.0393 0.2795 5008 , , NA 16519 0.3224 NA 0.3002 False NA ,,, NA NA NA 2504 0.2137 NA NA NA NA 0 G ,, 466,3940 219.7+/-237.4 26,414,1763 133 124 127 477,477,477 3.9 1 18 dbSNP_120 127 2651,5949 427.8+/-355.7 445,1761,2094 no coding-synonymous,coding-synonymous,coding-synonymous SERPINB8 NM_001031848.1,NM_002640.3,NM_198833.1 ,, 471,2175,3857 AA,AG,GG 30.8256,10.5765,23.9659 ,, 159/243,159/375,159/375 61650865 3117,9889 2203 4300 6503 SO:0001819 synonymous_variant L40377 CCDS11991.1, CCDS42442.1, CCDS62460.1 18q22.1 2014-02-18 2005-08-18 ENSG00000166401 ENSG00000166401 5271 Serine (or cysteine) peptidase inhibitors 8952 protein-coding gene gene with protein product cytoplasmic antiproteinase 2 601697 serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8 PI8 NA 8530382, 9268635, 24172014 Standard NM_001031848 NM_198833 NA Approved CAP2 uc002lju.3 P50452 OTTHUMG00000060596 ENST00000397988.3:c.477G>A chr18.hg19:g.61650865G>A NA B4DTW2|Q7Z2V6|Q8N178 hg19 CCDS42442.1 0.02 15.213498 GCTxGTC COVERED 523 0.23946886446886448 32 0.06504065040650407 112 0.30939226519337015 159 0.27797202797202797 220 0.29023746701846964 G 3.867 -0.028764 0.07589 0.105765 0.308256 ENSG00000166401 ENST00000295211 . . . 5.65 3.87 0.44632 . . . . . . . . . . . 0.09310 P 1.0 . . . . . . . . . . . . . . 7.7681 0.28991 0.1418:0.0:0.7254:0.1327 rs11537989;rs17846092;rs17859094 . . . X 101 . . W + 2 0 SERPINB8 59801845 0.654000 0.27367 0.998000 0.56505 0.357000 0.29423 -0.225000 0.09151 0.942000 0.37525 0.655000 0.94253 TGG NOVEL SERPINB8-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000134015.1 2 11.742149 KEEP 0 3 91 71 2508 GG 1 1 0 + 14 60 518 0 0 32.702487 351 60 13230 569 ENST00000397988.3 0.038356 1 TMX3 54495 __UNKNOWN__ __UNKNOWN__ 18 66368825 66368825 __UNKNOWN__ Intron SNP A A C rs3745058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:66368825A>C ENST00000299608.2 - 5 628 TMX3_ENST00000443099.2_Intron|TMX3_ENST00000562706.1_Intron NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 NA NA cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 AAGCATAAAGAAGCAGTCCCT 0.383 NA A||| 419 0.0836661 0.0696 0.0821 5008 , , NA 17346 0.1042 NA 0.1173 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647846 CCDS32840.1 18q22 2011-10-19 2009-02-23 2009-02-23 ENSG00000166479 54495 Protein disulfide isomerases 24718 protein-coding gene gene with protein product protein disulfide isomerase family A, member 13 thioredoxin domain containing 10 TXNDC10 NA 15623505 Standard NM_019022 NM_019022 NA Approved FLJ20793, KIAA1830, PDIA13 uc002lkf.3 Q96JJ7 ENST00000299608.2:c.311+156T>G chr18.hg19:g.66368825A>C NA B3KV75|Q52LT7|Q8N5J0|Q9NWJ9 hg19 CCDS32840.1 0.02 2.464684 AAGxAGC COVERED NOVEL TMX3-001 KNOWN upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000420155.1 0 3.009374 KEEP 0 0 0 10 324 AA 0.992708 0.989891 0 - 5 60 197 0 0 14.233367 66 60 2404 100 ENST00000299608.2 0.070423 0.997163 RTTN 25914 __UNKNOWN__ __UNKNOWN__ 18 67721541 67721541 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:67721541G>A ENST00000255674.6 - 38 5318 RTTN_ENST00000454359.1_Intron NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin NA NA determination of left/right symmetry (GO:0007368) ciliary basal body (GO:0036064)|cytoplasm (GO:0005737) NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AGGAGACAGGGTCAAATCAAA 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 35 31 32 NA NA 18 NA 67721541 1855 4100 5955 SO:0001627 intron_variant AL117635 CCDS42443.1 18q22.1 2008-08-01 ENSG00000176225 25914 18654 protein-coding gene gene with protein product 610436 NA 11900971 Standard NM_173630 NM_173630 NA Approved DKFZP434G145 uc002lkp.2 Q86VV8 ENST00000255674.6:c.5032-21C>T chr18.hg19:g.67721541G>A NA Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4 hg19 CCDS42443.1 0.02 4.394289 AGGxTCA COVERED NOVEL RTTN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000442988.1 2 8.126105 KEEP 0 0 0 27 943 GG 0.999988 0.999988 0 - 6 60 226 0 0 14.598861 140 60 5204 211 ENST00000255674.6 0.041096 1 NETO1 81832 __UNKNOWN__ __UNKNOWN__ 18 70531928 70531928 __UNKNOWN__ Intron SNP C C T rs148966704 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:70531928C>T ENST00000327305.6 - 3 878 NETO1_ENST00000580049.1_Intron|NETO1_ENST00000299430.2_Intron|NETO1_ENST00000583169.1_Intron|NETO1_ENST00000397929.1_Intron NM_138966.3 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 NA NA memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542) cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) GATATTTTTGCGCATGATCTC 0.368 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 18847 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF448838 CCDS12000.1, CCDS42444.1 18q22.2 2008-08-01 ENSG00000166342 ENSG00000166342 81832 13823 protein-coding gene gene with protein product 607973 NA 11943477, 12810072 Standard NM_138999 NM_138999 NA Approved BTCL1, BCTL1 uc002lkw.3 Q8TDF5 OTTHUMG00000132834 ENST00000327305.6:c.220+114G>A chr18.hg19:g.70531928C>T NA Q86W85|Q8ND78|Q8TDF4 hg19 CCDS12000.1 0.02 4.472069 TTGxGCA COVERED NOVEL NETO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256301.2 0 2.406098 KEEP 0 0 0 8 267 CC 0.99257 0.992548 0 - 7 60 248 0 0 17.035428 96 60 3521 121 ENST00000327305.6 0.067961 0.999978 FBXO15 201456 __UNKNOWN__ __UNKNOWN__ 18 71803272 71803272 __UNKNOWN__ Intron SNP C C T rs4076855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:71803272C>T ENST00000419743.2 - 3 307 FBXO15_ENST00000269500.5_Intron NM_001142958.1 NP_001136430.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 NA NA SCF ubiquitin ligase complex (GO:0019005) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TTTATTGAAACGTTCTGGTTA 0.398 NA T||| 1594 0.318291 0.6142 0.3314 5008 , , NA 17399 0.2619 NA 0.1312 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094215 CCDS45884.1 18q22.3 2006-03-09 2004-06-15 ENSG00000141665 ENSG00000141665 201456 F-boxes / other 13617 protein-coding gene gene with protein product 609093 F-box only protein 15 NA 12665572 Standard NM_152676 NM_152676 NA Approved MGC39671, FBX15 uc002llf.2 Q8NCQ5 OTTHUMG00000132842 ENST00000419743.2:c.228-171G>A chr18.hg19:g.71803272C>T NA B3KST3 hg19 CCDS45884.1 0.02 4.169801 AAAxGTT COVERED NOVEL FBXO15-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000444223.1 0 3.006859 KEEP 0 0 0 10 290 CC 0.992708 0.992708 0 - 6 60 227 0 0 14.646666 143 60 4590 159 ENST00000419743.2 0.040268 1 TIMM21 29090 __UNKNOWN__ __UNKNOWN__ 18 71825720 71825720 __UNKNOWN__ 3'UTR SNP G G A rs372234107|rs60712385|rs201898493 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:71825720G>A ENST00000169551.6 + 0 1050 NM_014177.2 NP_054896.2 Q9BVV7 TIM21_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) NA NA cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626) integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744) NA GATTAAAATAGGGTTTCTGAT 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 22 33 29 NA NA 18 NA 71825720 2137 4290 6427 SO:0001624 3_prime_UTR_variant BC000892 CCDS12003.1 18q22.3 2011-11-25 2011-11-25 2011-11-25 ENSG00000075336 ENSG00000075336 29090 25010 protein-coding gene gene with protein product 615180 chromosome 18 open reading frame 55 C18orf55 NA 11042152 Standard NM_014177 NM_014177 NA Approved HSPC154, TIM21 uc010dqr.1 Q9BVV7 OTTHUMG00000132844 ENST00000169551.6:c.*5G>A chr18.hg19:g.71825720G>A NA Q9P010 hg19 CCDS12003.1 0.02 4.272465 ATAxGGT COVERED NOVEL TIMM21-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256318.1 0 2.407586 KEEP 0 0 0 8 277 GG 0.99257 0.992548 0 + 5 60 187 0 0 12.422428 97 60 3636 115 ENST00000169551.6 0.04902 0.999978 FAM69C 125704 __UNKNOWN__ __UNKNOWN__ 18 72109211 72109211 __UNKNOWN__ Silent SNP C C T rs77302402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:72109211C>T ENST00000343998.6 - 3 1025 c.1017G>A c.(1015-1017)gcG>gcA p.A339A FAM69C_ENST00000400291.2_Silent_p.A40A NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C 339 NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring phosphorus-containing groups (GO:0016772) breast(1)|large_intestine(2)|ovary(2) 5 TTACGCGCTGCGCTCCGCATT 0.498 NA C||| 78 0.0155751 0.0 0.0043 5008 , , NA 20319 0.0675 NA 0.004 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C 7,3957 0,7,1975 113 119 117 1017 -10.2 0 18 dbSNP_132 117 30,8248 0,30,4109 yes coding-synonymous FAM69C NM_001044369.2 0,37,6084 TT,TC,CC 0.3624,0.1766,0.3022 339/420 72109211 37,12205 1982 4139 6121 SO:0001819 synonymous_variant BC019628 CCDS42445.2 18q22.3 2012-08-03 2009-07-23 2009-07-23 ENSG00000187773 ENSG00000187773 125704 31729 protein-coding gene gene with protein product 614544 chromosome 18 open reading frame 51 C18orf51 NA 21334309 Standard XM_058931 NM_001044369 NA Approved uc002llk.3 Q0P6D2 OTTHUMG00000156984 ENST00000343998.6:c.1017G>A chr18.hg19:g.72109211C>T NA hg19 CCDS42445.2 0.02 10.547746 CTGxGCT COVERED NOVEL FAM69C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346971.2 3 7.524094 KEEP 0 0 0 25 867 CC 0.999931 0.999931 0 - 19 60 633 0 0 43.219562 231 60 8331 302 ENST00000343998.6 0.076 1 FAM69C 125704 __UNKNOWN__ __UNKNOWN__ 18 72109428 72109428 __UNKNOWN__ Intron SNP G G A rs1013727 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:72109428G>A ENST00000343998.6 - 3 885 FAM69C_ENST00000400291.2_Intron NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C NA NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring phosphorus-containing groups (GO:0016772) breast(1)|large_intestine(2)|ovary(2) 5 CACAACTTCTGTTCACCTCGT 0.562 NA G||| 1378 0.27516 0.1672 0.2262 5008 , , NA 14163 0.2847 NA 0.3608 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC019628 CCDS42445.2 18q22.3 2012-08-03 2009-07-23 2009-07-23 ENSG00000187773 ENSG00000187773 125704 31729 protein-coding gene gene with protein product 614544 chromosome 18 open reading frame 51 C18orf51 NA 21334309 Standard XM_058931 NM_001044369 NA Approved uc002llk.3 Q0P6D2 OTTHUMG00000156984 ENST00000343998.6:c.877-77C>T chr18.hg19:g.72109428G>A NA hg19 CCDS42445.2 0.02 8.522748 TCTxTTC COVERED NOVEL FAM69C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346971.2 0 3.611201 KEEP 0 0 0 12 413 GG 0.993634 0.993634 0 - 19 60 681 0 0 49.083186 201 60 7282 242 ENST00000343998.6 0.086364 1 FAM69C 125704 __UNKNOWN__ __UNKNOWN__ 18 72114181 72114181 __UNKNOWN__ Missense_Mutation SNP C C T rs3752101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:72114181C>T ENST00000343998.6 - 2 544 c.536G>A c.(535-537)cGc>cAc p.R179H FAM69C_ENST00000400291.2_Intron NM_001044369.2 NP_001037834.2 Q0P6D2 FA69C_HUMAN family with sequence similarity 69, member C 179 NA endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) transferase activity, transferring phosphorus-containing groups (GO:0016772) breast(1)|large_intestine(2)|ovary(2) 5 TCCCCGCCAGCGTGGGCCCCG 0.692 NA C||| 184 0.0367412 0.0416 0.0288 5008 , , NA 13278 0.1022 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 2 5 4 NA NA 18 NA 72114181 453 1232 1685 SO:0001583 missense BC019628 CCDS42445.2 18q22.3 2012-08-03 2009-07-23 2009-07-23 ENSG00000187773 ENSG00000187773 125704 31729 protein-coding gene gene with protein product 614544 chromosome 18 open reading frame 51 C18orf51 NA 21334309 Standard XM_058931 NM_001044369 NA Approved uc002llk.3 Q0P6D2 OTTHUMG00000156984 ENST00000343998.6:c.536G>A chr18.hg19:g.72114181C>T ENSP00000344331:p.Arg179His NA hg19 CCDS42445.2 0.02 5.983014 CAGxGTG COVERED 120 0.054945054945054944 26 0.052845528455284556 9 0.024861878453038673 80 0.13986013986013987 5 0.006596306068601583 C 3.622 -0.077338 0.07184 . . ENSG00000187773 ENST00000343998 . . . 3.59 0.691 0.18045 . 0.480660 0.22737 N 0.056258 T 0.00109 0.0003 N 0.08118 0 0.09310 N 1 B 0.12013 0.005 B 0.04013 0.001 T 0.22765 -1.0207 9 0.15066 T 0.55 -4.76 4.2586 0.10730 0.0:0.4356:0.1752:0.3893 rs3752101 179 Q0P6D2 FA69C_HUMAN H 179 . ENSP00000344331:R179H R - 2 0 FAM69C 70265161 0.421000 0.25465 0.001000 0.08648 0.327000 0.28475 0.246000 0.18160 0.289000 0.22422 0.491000 0.48974 CGC NOVEL FAM69C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346971.2 2 9.242232 KEEP 0 1 32 42 1386 CC 1 1 0 - 6 60 212 0 0 12.99832 152 60 5049 259 ENST00000343998.6 0.037975 1 CNDP2 55748 __UNKNOWN__ __UNKNOWN__ 18 72173278 72173278 __UNKNOWN__ Intron SNP G G A rs34780792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:72173278G>A ENST00000324262.4 + 4 683 CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Intron NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) NA NA cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701) breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) GTGCCCAGAGGAAAGGCACTG 0.483 NA G||| 1077 0.215056 0.1165 0.3012 5008 , , NA 16498 0.2937 NA 0.163 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 G , 596,3810 57,482,1664 26 28 28 , 1 0 18 dbSNP_126 28 1604,6992 131,1342,2825 no intron,intron CNDP2 NM_001168499.1,NM_018235.2 , 188,1824,4489 AA,AG,GG 18.6598,13.527,16.9205 , , 72173278 2200,10802 2203 4298 6501 SO:0001627 intron_variant AK001692 CCDS12006.1, CCDS54190.1 18q22.3 2014-07-14 2004-07-12 ENSG00000133313 ENSG00000133313 55748 3.4.13.18 24437 protein-coding gene gene with protein product cytosolic nonspecific dipeptidase 169800 peptidase A PEPA NA 12473676 Standard NM_018235 NM_018235 NA Approved FLJ10830, CN2, HsT2298, CPGL uc002llm.2 Q96KP4 OTTHUMG00000132853 ENST00000324262.4:c.367+32G>A chr18.hg19:g.72173278G>A NA B3KUG4|Q8WY59|Q9BQ94|Q9NVB4 hg19 CCDS12006.1 0.02 -0.359702 GAGxAAA COVERED NOVEL CNDP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256327.1 0 6.32004 KEEP 0 0 0 21 696 GG 0.999869 0.888759 0 + 3 60 111 0 0 7.871367 38 60 1405 62 ENST00000324262.4 0.073171 0.888875 CNDP2 55748 __UNKNOWN__ __UNKNOWN__ 18 72178161 72178161 __UNKNOWN__ Silent SNP T T C rs2278159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:72178161T>C ENST00000324262.4 + 6 886 c.570T>C c.(568-570)taT>taC p.Y190Y CNDP2_ENST00000324301.8_Silent_p.Y106Y|CNDP2_ENST00000579847.1_Silent_p.Y190Y NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 190 NA cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701) p.Y190Y(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) ATGTGGACTATGTCTGCATTT 0.507 NA T||| 1013 0.202276 0.0779 0.3026 5008 , , NA 23053 0.2986 NA 0.162 False NA ,,, NA NA NA 2504 0.2413 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T , 493,3913 230.4+/-244.6 34,425,1744 146 127 134 318,570 1.8 0.9 18 dbSNP_100 134 1634,6966 303.4+/-306.4 133,1368,2799 no coding-synonymous,coding-synonymous CNDP2 NM_001168499.1,NM_018235.2 , 167,1793,4543 CC,CT,TT 19.0,11.1893,16.354 , 106/392,190/476 72178161 2127,10879 2203 4300 6503 SO:0001819 synonymous_variant AK001692 CCDS12006.1, CCDS54190.1 18q22.3 2014-07-14 2004-07-12 ENSG00000133313 ENSG00000133313 55748 3.4.13.18 24437 protein-coding gene gene with protein product cytosolic nonspecific dipeptidase 169800 peptidase A PEPA NA 12473676 Standard NM_018235 NM_018235 NA Approved FLJ10830, CN2, HsT2298, CPGL uc002llm.2 Q96KP4 OTTHUMG00000132853 ENST00000324262.4:c.570T>C chr18.hg19:g.72178161T>C NA B3KUG4|Q8WY59|Q9BQ94|Q9NVB4 hg19 CCDS12006.1 0.02 6.052283 CTAxGTC COVERED NOVEL CNDP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256327.1 0 10.230249 KEEP 0 0 0 34 1062 TT 0.999998 0.999998 0 + 8 60 287 0 0 18.705961 153 60 5744 244 ENST00000324262.4 0.049689 1 TSHZ1 10194 __UNKNOWN__ __UNKNOWN__ 18 72998895 72998895 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:72998895C>T ENST00000580243.1 + 2 1881 c.1533C>T c.(1531-1533)ggC>ggT p.G511G TSHZ1_ENST00000322038.5_Silent_p.G466G Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 511 NA anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CTGTGGCTGGCGACGCGGAGA 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AF039698 CCDS12009.1 18q22.3 2013-11-20 2007-07-16 2006-03-14 ENSG00000179981 ENSG00000179981 10194 Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type 10669 protein-coding gene gene with protein product 614427 serologically defined colon cancer antigen 33, teashirt zinc finger 1, teashirt family zinc finger 1 SDCCAG33 NA 17586487 Standard NM_005786 NM_005786 NA Approved NY-CO-33, TSH1 uc002lly.4 Q6ZSZ6 OTTHUMG00000132859 ENST00000580243.1:c.1533C>T chr18.hg19:g.72998895C>T NA O60534|Q4LE29|Q53EU4 hg19 0.02 10.043964 TGGxGAC COVERED NOVEL TSHZ1-005 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000444913.1 2 24.657085 KEEP 0 0 0 82 2726 CC 1 1 0 + 11 60 340 0 0 19.734517 240 60 8348 426 ENST00000580243.1 0.043825 1 RP11-17M16.1 0 __UNKNOWN__ __UNKNOWN__ 18 74207594 74207594 __UNKNOWN__ 5'UTR SNP T T C rs3813101 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:74207594T>C ENST00000532511.1 + 0 118 NM_001272093.1 NP_001259022.1 NA NA NA GGTCTAAGGCTGCTGCAGCCC 0.652 NA t||| 305 0.0609026 0.0129 0.062 5008 , , NA 10706 0.0933 NA 0.0875 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000532511.1:c.-71T>C chr18.hg19:g.74207594T>C NA hg19 0.02 6.232068 GGCxGCT COVERED NOVEL RP11-17M16.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000387364.2 1 39.992675 KEEP 0 0 0 133 3933 TT 1 1 0 + 7 60 244 0 0 15.421434 145 60 5153 309 ENST00000532511.1 0.046053 1 RP11-17M16.1 0 __UNKNOWN__ __UNKNOWN__ 18 74209002 74209002 __UNKNOWN__ 3'UTR SNP A A G rs3813097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:74209002A>G ENST00000532511.1 + 0 1034 NM_001272093.1 NP_001259022.1 NA NA NA TTAAAGTACAAACTTGCGCTA 0.358 NA A||| 1287 0.256989 0.1755 0.3588 5008 , , NA 20637 0.2847 NA 0.2763 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000532511.1:c.*492A>G chr18.hg19:g.74209002A>G NA hg19 0.02 9.397483 ACAxACT COVERED NOVEL RP11-17M16.1-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000387364.2 0 29.185464 KEEP 0 0 0 97 3023 AA 1 1 0 + 19 60 721 0 0 52.582852 214 60 7654 383 ENST00000532511.1 0.081545 1 MBP 4155 __UNKNOWN__ __UNKNOWN__ 18 74725196 74725196 __UNKNOWN__ Intron SNP T T C rs144451854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:74725196T>C ENST00000397869.3 - 1 224 MBP_ENST00000527041.1_Intron|MBP_ENST00000382582.3_Intron|MBP_ENST00000355994.2_Intron|MBP_ENST00000526111.1_Intron|MBP_ENST00000397860.3_3'UTR|MBP_ENST00000397875.3_Intron|MBP_ENST00000397865.5_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000397866.4_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000397863.1_3'UTR|MBP_ENST00000578193.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000359645.3_Intron|MBP_ENST00000580402.1_Intron P13727 PRG2_HUMAN myelin basic protein NA NA defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753) cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) carbohydrate binding (GO:0030246)|heparin binding (GO:0008201) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) Sargramostim(DB00020) AGGTACTGAGTGGCTGGATCA 0.468 NA T||| 85 0.0169728 0.0 0.0 5008 , , NA 20699 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NSCLC(17;72 1131 19392) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1 18q23 2008-08-01 ENSG00000197971 ENSG00000197971 4155 6925 protein-coding gene gene with protein product 159430 NA 2425357 Standard NM_001025081 XM_005266699 NA Approved uc010xfd.2 P02686 OTTHUMG00000132874 ENST00000397869.3:c.177+3591A>G chr18.hg19:g.74725196T>C NA A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2 hg19 0.02 6.555022 GAGxGGC COVERED NOVEL MBP-024 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000267964.1 1 9.324772 KEEP 0 0 0 31 914 TT 0.999997 0.999997 0 - 6 60 224 0 0 13.963973 166 60 5829 235 ENST00000397869.3 0.034884 1 NFATC1 4772 __UNKNOWN__ __UNKNOWN__ 18 77156171 77156171 __UNKNOWN__ 5'UTR SNP G G C rs74183647 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77156171G>C ENST00000587635.1 + 0 41 NFATC1_ENST00000253506.5_5'UTR|NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000591814.1_5'UTR O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NA NA calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) Pseudoephedrine(DB00852) GCGCGGGGCGGCCGCTTCTCC 0.746 NA g||| 1166 0.232827 0.2095 0.2161 5008 , , NA 3567 0.4355 NA 0.0924 False NA ,,, NA NA NA 2504 0.2117 NA NA NA GBM(151;1210 2593 28719 45011) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U08015 CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1 18q23 2009-11-24 ENSG00000131196 ENSG00000131196 4772 Nuclear factor of activated T-cells 7775 protein-coding gene gene with protein product 600489 NA 8202141 Standard NM_172390 NM_001278669 NA Approved NF-ATC, NFATc, NFAT2 uc002lnf.3 O95644 OTTHUMG00000132897 ENST00000587635.1:c.-54G>C chr18.hg19:g.77156171G>C NA B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3 hg19 0.02 -0.438474 GCGxCCG COVERED NOVEL NFATC1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450505.1 0 17.444127 KEEP 0 0 0 58 1964 GG 1 0.959859 0 + 4 60 142 0 0 10.057926 46 60 1596 123 ENST00000587635.1 0.08 0.959859 NFATC1 4772 __UNKNOWN__ __UNKNOWN__ 18 77170314 77170314 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77170314C>T ENST00000587635.1 + 2 221 NFATC1_ENST00000329101.4_Intron|NFATC1_ENST00000592223.1_Intron|NFATC1_ENST00000427363.2_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000591814.1_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Intron O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NA NA calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) Pseudoephedrine(DB00852) TGGTCGAGGCCGGGGGTTGCT 0.617 NA NA NA NA NA NA NA NA NA NA GBM(151;1210 2593 28719 45011) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U08015 CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1 18q23 2009-11-24 ENSG00000131196 ENSG00000131196 4772 Nuclear factor of activated T-cells 7775 protein-coding gene gene with protein product 600489 NA 8202141 Standard NM_172390 NM_001278669 NA Approved NF-ATC, NFATc, NFAT2 uc002lnf.3 O95644 OTTHUMG00000132897 ENST00000587635.1:c.128-89C>T chr18.hg19:g.77170314C>T NA B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3 hg19 0.02 6.121804 GGCxGGG COVERED NOVEL NFATC1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450505.1 0 5.351655 KEEP 0 1 32 29 962 CC 0.999997 0.999997 0 + 7 60 255 0 0 15.692225 192 60 6526 239 ENST00000587635.1 0.035176 1 NFATC1 4772 __UNKNOWN__ __UNKNOWN__ 18 77227476 77227476 __UNKNOWN__ Missense_Mutation SNP A A G rs25656 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77227476A>G ENST00000587635.1 + 8 1995 c.1901A>G c.(1900-1902)cAt>cGt p.H634R NFATC1_ENST00000329101.4_Silent_p.P649P|NFATC1_ENST00000592223.1_Silent_p.P649P|NFATC1_ENST00000427363.2_Silent_p.P662P|NFATC1_ENST00000253506.5_Silent_p.P662P|NFATC1_ENST00000397790.2_Silent_p.P190P|NFATC1_ENST00000591814.1_Silent_p.P662P|NFATC1_ENST00000586434.1_Silent_p.P649P|NFATC1_ENST00000542384.1_Silent_p.P662P|NFATC1_ENST00000545796.1_Silent_p.P190P|NFATC1_ENST00000318065.5_Silent_p.P649P O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0 NA calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) Pseudoephedrine(DB00852) AGATCCCGCCATTTCGGAATC 0.587 NA G||| 2028 0.404952 0.6717 0.379 5008 , , NA 15486 0.374 NA 0.2972 False NA ,,, NA NA NA 2504 0.2055 NA NA NA GBM(151;1210 2593 28719 45011) NA 0 G ,,,, 2671,1735 518.3+/-369.7 803,1065,335 99 76 84 1986,1947,570,1947,1986 -9.4 0.2 18 dbSNP_116 84 2780,5820 677.6+/-403.4 453,1874,1973 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous NFATC1 NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1 ,,,, 1256,2939,2308 GG,GA,AA 32.3256,39.3781,41.9114 ,,,, 662/826,649/931,190/354,649/813,662/717 77227476 5451,7555 2203 4300 6503 SO:0001583 missense U08015 CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1 18q23 2009-11-24 ENSG00000131196 ENSG00000131196 4772 Nuclear factor of activated T-cells 7775 protein-coding gene gene with protein product 600489 NA 8202141 Standard NM_172390 NM_001278669 NA Approved NF-ATC, NFATc, NFAT2 uc002lnf.3 O95644 OTTHUMG00000132897 ENST00000587635.1:c.1901A>G chr18.hg19:g.77227476A>G ENSP00000468111:p.His634Arg NA B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3 hg19 0.02 5.813288 GCCxTTT COVERED NOVEL NFATC1-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000450505.1 1 18.489579 KEEP 0 1 33 73 2277 AA 1 1 0 + 7 60 237 0 0 14.252531 170 60 6178 312 ENST00000587635.1 0.039548 1 NFATC1 4772 __UNKNOWN__ __UNKNOWN__ 18 77246978 77246978 __UNKNOWN__ Intron SNP G G A rs754096 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77246978G>A ENST00000329101.4 + 9 2799 NFATC1_ENST00000427363.2_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000318065.5_Intron NM_001278669.1|NM_001278673.1|NM_172387.1 NP_001265598.1|NP_001265602.1|NP_765975.1 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 NA NA calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667) FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) Pseudoephedrine(DB00852) CCCGCCTGGCGCCATGGCGTG 0.647 NA g||| 2033 0.40595 0.1891 0.4438 5008 , , NA 15546 0.4653 NA 0.507 False NA ,,, NA NA NA 2504 0.5072 NA NA NA GBM(151;1210 2593 28719 45011) NA 0 A ,,, 883,3171 109,665,1253 23 19 20 ,,, 0 0 18 dbSNP_86 20 3783,4143 966,1851,1146 no intron,intron,intron,intron NFATC1 NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1 ,,, 1075,2516,2399 AA,AG,GG 47.729,21.781,38.9482 ,,, ,,, 77246978 4666,7314 2027 3963 5990 SO:0001627 intron_variant U08015 CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1 18q23 2009-11-24 ENSG00000131196 ENSG00000131196 4772 Nuclear factor of activated T-cells 7775 protein-coding gene gene with protein product 600489 NA 8202141 Standard NM_172390 NM_001278669 NA Approved NF-ATC, NFATc, NFAT2 uc002lnf.3 O95644 OTTHUMG00000132897 ENST00000329101.4:c.2743+41G>A chr18.hg19:g.77246978G>A NA B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3 hg19 CCDS32850.1 0.02 3.906291 GGCxCCA COVERED NOVEL NFATC1-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000450510.1 1 15.651571 KEEP 0 0 0 52 1887 GG 1 0.999999 0 + 6 60 197 0 0 12.189544 116 60 4237 203 ENST00000329101.4 0.04918 0.999999 CTDP1 9150 __UNKNOWN__ __UNKNOWN__ 18 77455871 77455871 __UNKNOWN__ Intron SNP C C T rs558700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77455871C>T ENST00000299543.7 + 3 545 CTDP1_ENST00000075430.7_Intron NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 NA NA exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922) CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) aagatagcagcgtgtgtccgt 0.502 NA C||| 2547 0.508586 0.3654 0.6124 5008 , , NA 21369 0.5258 NA 0.5606 False NA ,,, NA NA NA 2504 0.5573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF081287 CCDS12017.1, CCDS12018.1, CCDS74239.1 18q23 2014-09-17 ENSG00000060069 ENSG00000060069 9150 Serine/threonine phosphatases / CTD aspartate-based phosphatases 2498 protein-coding gene gene with protein product 604927 NA 9405607, 9765293 Standard NM_004715 NM_004715 NA Approved FCP1 uc002lnh.2 Q9Y5B0 OTTHUMG00000132920 ENST00000299543.7:c.399-106C>T chr18.hg19:g.77455871C>T NA A8MY97|Q7Z644|Q96BZ1|Q9Y6F5 hg19 CCDS12017.1 0.02 3.605509 CAGxGTG COVERED NOVEL CTDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256432.1 0 6.621763 KEEP 0 0 0 22 785 CC 0.999879 0.999879 0 + 7 60 237 0 0 14.873433 138 60 4995 187 ENST00000299543.7 0.048276 1 CTDP1 9150 __UNKNOWN__ __UNKNOWN__ 18 77473127 77473127 __UNKNOWN__ Missense_Mutation SNP C C T rs2279103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77473127C>T ENST00000299543.7 + 7 1166 c.1019C>T c.(1018-1020)aCg>aTg p.T340M CTDP1_ENST00000075430.7_Missense_Mutation_p.T340M NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 340 FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}. NA T -> M (in dbSNP:rs2279103). exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922) CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GAATCTCAGACGAGAAAGAAA 0.433 NA C||| 414 0.0826677 0.0045 0.0677 5008 , , NA 16222 0.1389 NA 0.169 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 C MET/THR,MET/THR,MET/THR 170,4236 109.5+/-147.8 7,156,2040 54 53 54 662,1019,1019 0.3 0 18 dbSNP_100 54 1538,7062 288.6+/-298.9 139,1260,2901 yes missense,missense,missense CTDP1 NM_001202504.1,NM_004715.4,NM_048368.3 81,81,81 146,1416,4941 TT,TC,CC 17.8837,3.8584,13.1324 benign,benign,benign 221/843,340/962,340/868 77473127 1708,11298 2203 4300 6503 SO:0001583 missense AF081287 CCDS12017.1, CCDS12018.1, CCDS74239.1 18q23 2014-09-17 ENSG00000060069 ENSG00000060069 9150 Serine/threonine phosphatases / CTD aspartate-based phosphatases 2498 protein-coding gene gene with protein product 604927 NA 9405607, 9765293 Standard NM_004715 NM_004715 NA Approved FCP1 uc002lnh.2 Q9Y5B0 OTTHUMG00000132920 ENST00000299543.7:c.1019C>T chr18.hg19:g.77473127C>T ENSP00000299543:p.Thr340Met NA A8MY97|Q7Z644|Q96BZ1|Q9Y6F5 hg19 CCDS12017.1 0.02 6.371119 AGAxGAG COVERED 245 0.11217948717948718 7 0.014227642276422764 28 0.07734806629834254 70 0.12237762237762238 140 0.18469656992084432 C 2.918 -0.223925 0.06061 0.038584 0.178837 ENSG00000060069 ENST00000299543;ENST00000075430 T;T 0.09817 2.97;2.94 4.82 0.332 0.15938 NLI interacting factor (1); 0.670270 0.15369 N 0.265948 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.30114 0.165;0.269;0.103 B;B;B 0.17979 0.013;0.02;0.006 T 0.45877 -0.9231 9 0.40728 T 0.16 -3.9704 3.0092 0.06039 0.2026:0.2918:0.0:0.5055 rs2279103;rs61656723;rs2279103 221;340;340 Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0 .;.;CTDP1_HUMAN M 340 ENSP00000299543:T340M;ENSP00000075430:T340M ENSP00000075430:T340M T + 2 0 CTDP1 75574115 0.004000 0.15560 0.000000 0.03702 0.000000 0.00434 0.099000 0.15210 0.186000 0.20125 -0.122000 0.15005 ACG NOVEL CTDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256432.1 1 9.329439 KEEP 0 0 0 31 1058 CC 0.999997 0.999997 0 + 6 60 215 0 0 13.278301 153 60 5158 226 ENST00000299543.7 0.037736 1 CTDP1 9150 __UNKNOWN__ __UNKNOWN__ 18 77474921 77474921 __UNKNOWN__ Silent SNP G G A rs2126082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77474921G>A ENST00000299543.7 + 8 1608 c.1461G>A c.(1459-1461)ccG>ccA p.P487P CTDP1_ENST00000075430.7_Silent_p.P487P NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 487 NA KP -> NA (in Ref. 5; AAC64549). {ECO:0000305}. exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922) CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GGCAGAAGCCGAAGGCTGCCC 0.697 NA G||| 927 0.185104 0.2307 0.2075 5008 , , NA 14787 0.1389 NA 0.1759 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 G ,, 784,3440 78,628,1406 7 8 7 1104,1461,1461 -9.2 0 18 dbSNP_96 7 1297,7041 111,1075,2983 no coding-synonymous,coding-synonymous,coding-synonymous CTDP1 NM_001202504.1,NM_004715.4,NM_048368.3 ,, 189,1703,4389 AA,AG,GG 15.5553,18.5606,16.5658 ,, 368/843,487/962,487/868 77474921 2081,10481 2112 4169 6281 SO:0001819 synonymous_variant AF081287 CCDS12017.1, CCDS12018.1, CCDS74239.1 18q23 2014-09-17 ENSG00000060069 ENSG00000060069 9150 Serine/threonine phosphatases / CTD aspartate-based phosphatases 2498 protein-coding gene gene with protein product 604927 NA 9405607, 9765293 Standard NM_004715 NM_004715 NA Approved FCP1 uc002lnh.2 Q9Y5B0 OTTHUMG00000132920 ENST00000299543.7:c.1461G>A chr18.hg19:g.77474921G>A NA A8MY97|Q7Z644|Q96BZ1|Q9Y6F5 hg19 CCDS12017.1 0.02 6.188129 GCCxAAG COVERED NOVEL CTDP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000256432.1 1 21.06625 KEEP 0 0 0 70 2381 GG 1 1 0 + 9 60 332 0 0 21.743256 182 60 6536 305 ENST00000299543.7 0.04712 1 PQLC1 80148 __UNKNOWN__ __UNKNOWN__ 18 77710618 77710618 __UNKNOWN__ Intron SNP C C T rs72984244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77710618C>T ENST00000409073.1 - 1 94 PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Intron|PQLC1_ENST00000397778.2_Intron Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 NA NA integral component of membrane (GO:0016021) endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 9 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) gacGCTGGCCCAGCAGGGAGG 0.597 NA C||| 796 0.158946 0.1188 0.1311 5008 , , NA 16463 0.2173 NA 0.1362 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123870 CCDS12020.1, CCDS54192.1, CCDS54193.1 18q23 2004-01-14 ENSG00000122490 ENSG00000122490 80148 26188 protein-coding gene gene with protein product NA 12477932 Standard NM_025078 NM_025078 NA Approved FLJ22378 uc002lnl.2 Q8N2U9 OTTHUMG00000132921 ENST00000409073.1:c.197+105G>A chr18.hg19:g.77710618C>T NA B7Z7D9|G5E989|Q9H6D0 hg19 0.02 2.162701 GCCxAGC COVERED NOVEL PQLC1-201 KNOWN basic|exp_conf protein_coding NA protein_coding 0 12.011794 KEEP 0 0 0 40 1333 CC 1 0.999907 0 - 4 60 153 0 0 10.027134 90 60 3265 140 ENST00000409073.1 0.042553 0.999907 HSBP1L1 440498 __UNKNOWN__ __UNKNOWN__ 18 77728045 77728045 __UNKNOWN__ Intron SNP C C T rs2298644 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77728045C>T ENST00000451882.2 + 3 293 NM_001136180.1 NP_001129652.1 C9JCN9 HSBPL_HUMAN heat shock factor binding protein 1-like 1 NA NA NA TGTGCCTCGGCGGCTCTGGAC 0.512 NA C||| 2826 0.564297 0.2965 0.6686 5008 , , NA 18489 0.6508 NA 0.6899 False NA ,,, NA NA NA 2504 0.6339 NA NA NA NA 0 C 486,898 95,296,301 55 54 55 -1.7 0 18 dbSNP_100 55 2221,961 780,661,150 no intron HSBP1L1 NM_001136180.1 875,957,451 TT,TC,CC 30.2011,35.1156,40.714 77728045 2707,1859 692 1591 2283 SO:0001627 intron_variant CCDS45886.1 18q23 2009-09-21 ENSG00000226742 440498 37243 protein-coding gene gene with protein product NA Standard NM_001136180 NM_001136180 NA Approved FLJ10967, MGC189743 uc002lno.4 C9JCN9 ENST00000451882.2:c.119-44C>T chr18.hg19:g.77728045C>T NA B2RXG9 hg19 CCDS45886.1 0.02 1.637357 CGGxGGC COVERED NOVEL HSBP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451030.1 1 6.621172 KEEP 0 0 0 22 755 CC 0.999879 0.999818 0 + 5 60 171 0 0 10.937232 92 60 3368 139 ENST00000451882.2 0.051546 0.99994 TXNL4A 10907 __UNKNOWN__ __UNKNOWN__ 18 77788551 77788551 __UNKNOWN__ Intron SNP T T C rs1805272 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77788551T>C ENST00000585474.1 - 1 99 TXNL4A_ENST00000589926.1_Intron|TXNL4A_ENST00000592957.1_Intron P83876 TXN4A_HUMAN thioredoxin-like 4A NA NA gene expression (GO:0010467)|mitotic nuclear division (GO:0007067)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245) nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681) breast(1)|large_intestine(1)|lung(3) 5 all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249) cactggatcatgctaaaatag 0.428 NA T||| 2832 0.565495 0.3691 0.6311 5008 , , NA 16552 0.7381 NA 0.4583 False NA ,,, NA NA NA 2504 0.7168 NA NA NA Ovarian(160;2333 2597 11821 36245) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF023612 CCDS32852.1 18q23 2013-07-16 2004-08-11 2004-08-12 ENSG00000141759 10907 30551 protein-coding gene gene with protein product similar to S. pombe dim1+ 611595 thioredoxin-like 4 TXNL4 NA 11015569 Standard NM_006701 NM_006701 NA Approved U5-15kD, DIM1, HsT161, DIB1, SNRNP15 uc002lnp.3 P83876 ENST00000585474.1:c.59+5299A>G chr18.hg19:g.77788551T>C NA B2RC18|O14834 hg19 0.02 3.94194 TCAxGCT COVERED NOVEL TXNL4A-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000451037.1 0 9.027077 KEEP 0 0 0 30 946 TT 0.999997 0.999995 0 - 8 60 272 0 0 18.351173 109 60 3952 184 ENST00000585474.1 0.068376 0.999998 RP11-795F19.5 0 __UNKNOWN__ __UNKNOWN__ 18 77807043 77807043 __UNKNOWN__ Intron SNP G G C rs12966886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77807043G>C ENST00000569722.1 + 1 308 RP11-795F19.5_ENST00000564012.1_Intron NA NA NA CAGCCCCTGTGAGCTGTCAGG 0.468 NA C||| 3461 0.691094 0.3026 0.7723 5008 , , NA 20629 0.9196 NA 0.7843 False NA ,,, NA NA NA 2504 0.8272 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000569722.1:c.158+12390G>C chr18.hg19:g.77807043G>C NA hg19 0.02 9.76361 TGTxAGC COVERED NOVEL RP11-795F19.5-001 KNOWN basic|appris_candidate_longest|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000451048.1 1 5.751575 KEEP 0 1 28 29 971 GG 0.999997 0.999997 0 + 11 60 430 0 0 29.397901 204 60 7635 288 ENST00000569722.1 0.051163 1 RP11-795F19.5 0 __UNKNOWN__ __UNKNOWN__ 18 77807211 77807211 __UNKNOWN__ Intron SNP C C T rs72972292 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77807211C>T ENST00000569722.1 + 1 308 RP11-795F19.5_ENST00000564012.1_Intron NA NA NA CAGGTGCCCACGGTGCAGGAG 0.582 NA C||| 1514 0.302316 0.059 0.3026 5008 , , NA 21602 0.4385 NA 0.4692 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000569722.1:c.158+12558C>T chr18.hg19:g.77807211C>T NA hg19 0.02 6.524812 CCAxGGT COVERED NOVEL RP11-795F19.5-001 KNOWN basic|appris_candidate_longest|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000451048.1 2 5.351223 KEEP 0 1 29 28 960 CC 0.999997 0.999997 0 + 7 60 258 0 0 16.582314 157 60 5453 231 ENST00000569722.1 0.042683 1 ADNP2 22850 __UNKNOWN__ __UNKNOWN__ 18 77883323 77883323 __UNKNOWN__ Intron SNP G G C rs62102640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77883323G>C ENST00000262198.4 + 3 563 NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 NA NA cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) tcaggagatcgagaccattct 0.527 NA G||| 1032 0.20607 0.447 0.1686 5008 , , NA 16233 0.0734 NA 0.1561 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020670 CCDS32853.1 18q23 2013-01-07 2007-07-17 2007-07-17 ENSG00000101544 ENSG00000101544 22850 Homeoboxes / ZF class, Zinc fingers, C2H2-type 23803 protein-coding gene gene with protein product zinc finger protein 508 ZNF508 NA Standard NM_014913 NM_014913 NA Approved KIAA0863 uc002lnw.3 Q6IQ32 OTTHUMG00000172535 ENST00000262198.4:c.109-7663G>C chr18.hg19:g.77883323G>C NA A8K951|O94943|Q9H9P3 hg19 CCDS32853.1 0.02 2.438115 ATCxAGA COVERED NOVEL ADNP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418979.1 144 24.817455 KEEP 30 4 127 127 4234 GG 1 0.9982 0 + 4 60 162 0 0 15.186131 6 23 184 266 ENST00000262198.4 0.4 0.9982 AC139100.2 0 __UNKNOWN__ __UNKNOWN__ 18 77918221 77918221 __UNKNOWN__ Intron SNP C C T rs2280349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr18:77918221C>T ENST00000586421.1 + 2 330 PARD6G_ENST00000353265.3_Silent_p.E188E|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000589574.1_Intron NA NA NA CGGGCACCTTCTCCAGCCCGT 0.701 NA C||| 1237 0.247005 0.1483 0.2017 5008 , , NA 13276 0.494 NA 0.0885 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 C 646,3756 39,568,1594 24 25 25 564 2 1 18 dbSNP_100 25 538,8058 16,506,3776 no coding-synonymous PARD6G NM_032510.3 55,1074,5370 TT,TC,CC 6.2587,14.6751,9.1091 188/377 77918221 1184,11814 2201 4298 6499 SO:0001627 intron_variant NA NA NA NA ENST00000586421.1:c.97-2178C>T chr18.hg19:g.77918221C>T NA hg19 0.02 10.179228 CTTxTCC COVERED NOVEL AC139100.2-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000451060.1 0 33.102855 KEEP 0 0 0 110 3787 CC 1 1 0 + 8 60 289 0 0 16.803445 284 60 10698 457 ENST00000586421.1 0.027397 1 MIER2 54531 __UNKNOWN__ __UNKNOWN__ 19 327998 327998 __UNKNOWN__ Intron SNP G G T rs2305113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:327998G>T ENST00000264819.4 - 4 254 MIER2_ENST00000592722.1_Intron NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677) endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGAGTTGGGGAAGGGAAC 0.607 NA G||| 2007 0.400759 0.3351 0.2839 5008 , , NA 20540 0.6558 NA 0.2008 False NA ,,, NA NA NA 2504 0.5153 NA NA NA NA 0 G 1473,2933 252,969,982 91 70 77 -0.6 0 19 dbSNP_100 77 1913,6687 209,1495,2596 no intron MIER2 NM_017550.1 461,2464,3578 TT,TG,GG 22.2442,33.4317,26.0341 327998 3386,9620 2203 4300 6503 SO:0001627 intron_variant AB033019 CCDS32855.1 19p13.3 2008-02-05 2006-04-20 2006-04-20 ENSG00000105556 54531 29210 protein-coding gene gene with protein product KIAA1193 KIAA1193 NA 10574462 Standard XM_041843 NM_017550 NA Approved uc002lok.1 Q8N344 ENST00000264819.4:c.244-9C>A chr19.hg19:g.327998G>T NA Q9ULM7 hg19 CCDS32855.1 0.02 1.819229 TTGxGGA COVERED NOVEL MIER2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451784.1 0 11.436611 KEEP 0 0 0 38 1330 GG 1 0.999956 0 - 9 60 333 0 0 24.498512 90 60 3286 168 ENST00000264819.4 0.090909 0.999956 THEG 51298 __UNKNOWN__ __UNKNOWN__ 19 372661 372661 __UNKNOWN__ Missense_Mutation SNP C C A rs2303810 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:372661C>A ENST00000342640.4 - 5 647 c.605G>T c.(604-606)aGa>aTa p.R202I THEG_ENST00000346878.2_Missense_Mutation_p.R178I NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 202 NA R -> I (in dbSNP:rs2303810). cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) nucleus (GO:0005634) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGTAGAATCTCTTGGGCCG 0.552 NA C||| 627 0.1252 0.0144 0.0317 5008 , , NA 19957 0.4623 NA 0.0537 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 C ILE/ARG,ILE/ARG 83,4323 71.4+/-109.4 0,83,2120 149 124 133 605,533 2.3 0.7 19 dbSNP_100 133 462,8138 136.8+/-193.9 12,438,3850 yes missense,missense THEG NM_016585.3,NM_199202.1 97,97 12,521,5970 AA,AC,CC 5.3721,1.8838,4.1904 probably-damaging,probably-damaging 202/380,178/356 372661 545,12461 2203 4300 6503 SO:0001583 missense AF268610 CCDS12025.1, CCDS12026.1 19p13.3 2012-02-24 2012-02-24 ENSG00000105549 ENSG00000105549 51298 13706 protein-coding gene gene with protein product cancer/testis antigen 56 609503 Theg homolog (mouse) NA 11173852 Standard NM_016585 NA Approved CT56, THEG1 uc002lol.3 Q9P2T0 OTTHUMG00000165491 ENST00000342640.4:c.605G>T chr19.hg19:g.372661C>A ENSP00000340088:p.Arg202Ile NA A6NMJ8 hg19 CCDS12025.1 0.02 6.66291 AATxTCT COVERED 300 0.13736263736263737 9 0.018292682926829267 16 0.04419889502762431 244 0.42657342657342656 31 0.040897097625329816 C 13.17 2.156753 0.38119 0.018838 0.053721 ENSG00000105549 ENST00000342640;ENST00000346878 T;T 0.19806 2.12;2.14 3.31 2.26 0.28386 . 1.186920 0.06026 N 0.652244 T 0.00012 0.0000 M 0.68952 2.095 0.22378 P 0.999156292 D;D 0.67145 0.99;0.996 P;D 0.65010 0.901;0.931 T 0.36890 -0.9729 9 0.62326 D 0.03 -9.6966 6.5494 0.22425 0.0:0.865:0.0:0.135 rs2303810;rs52838094;rs59916085;rs2303810 178;202 Q9P2T0-2;Q9P2T0 .;THEG_HUMAN I 202;178 ENSP00000340088:R202I;ENSP00000264820:R178I ENSP00000340088:R202I R - 2 0 THEG 323661 0.880000 0.30214 0.666000 0.29783 0.328000 0.28507 0.748000 0.26305 0.975000 0.38392 0.561000 0.74099 AGA NOVEL THEG-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000384431.2 1 13.242411 KEEP 0 0 0 44 1535 CC 1 1 0 - 16 60 593 0 0 43.862861 155 60 5862 274 ENST00000342640.4 0.093567 1 THEG 51298 __UNKNOWN__ __UNKNOWN__ 19 374492 374492 __UNKNOWN__ Intron SNP G G C rs10410345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:374492G>C ENST00000342640.4 - 2 351 THEG_ENST00000346878.2_Intron NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein NA NA cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) nucleus (GO:0005634) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGAGAAGCGTGGGTCTTGC 0.612 NA G||| 2863 0.571685 0.6051 0.3862 5008 , , NA 15923 0.7897 NA 0.4901 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF268610 CCDS12025.1, CCDS12026.1 19p13.3 2012-02-24 2012-02-24 ENSG00000105549 ENSG00000105549 51298 13706 protein-coding gene gene with protein product cancer/testis antigen 56 609503 Theg homolog (mouse) NA 11173852 Standard NM_016585 NA Approved CT56, THEG1 uc002lol.3 Q9P2T0 OTTHUMG00000165491 ENST00000342640.4:c.309-71C>G chr19.hg19:g.374492G>C NA A6NMJ8 hg19 CCDS12025.1 0.02 9.350883 AGCxTGG COVERED NOVEL THEG-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000384431.2 3 12.338049 KEEP 0 0 0 41 1349 GG 1 1 0 - 18 60 680 0 0 49.284547 209 60 7003 315 ENST00000342640.4 0.079295 1 SHC2 25759 __UNKNOWN__ __UNKNOWN__ 19 422481 422481 __UNKNOWN__ Intron SNP G G A rs2287959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:422481G>A ENST00000264554.6 - 11 1309 NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 NA NA activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265) cytosol (GO:0005829) endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGAGTGCTGGGCAGGCAGG 0.667 NA G||| 534 0.106629 0.0348 0.0634 5008 , , NA 16053 0.2073 NA 0.0189 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 G 56,3942 0,56,1943 4 5 5 4.2 0.2 19 dbSNP_100 5 82,8104 0,82,4011 no intron SHC2 NM_012435.2 0,138,5954 AA,AG,GG 1.0017,1.4007,1.1326 422481 138,12046 1999 4093 6092 SO:0001627 intron_variant AB001451 CCDS45891.1 19p13.3 2013-02-14 ENSG00000129946 25759 SH2 domain containing 29869 protein-coding gene gene with protein product neuronal Shc adaptor homolog 605217 NA 7527937, 9507002 Standard NM_012435 NA Approved SLI, SCK, SHCB uc002loq.4 P98077 ENST00000264554.6:c.1310-25C>T chr19.hg19:g.422481G>A NA O60230|Q9NPL5|Q9UCX4 hg19 CCDS45891.1 0.02 4.244003 GCTxGGC COVERED NOVEL SHC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451840.3 1 3.310187 KEEP 0 0 0 11 364 GG 0.993072 0.993072 0 - 9 60 312 0 0 21.756828 108 60 3897 154 ENST00000264554.6 0.076923 1 MADCAM1 8174 __UNKNOWN__ __UNKNOWN__ 19 501725 501725 __UNKNOWN__ Missense_Mutation SNP G G A rs62130833 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:501725G>A ENST00000215637.3 + 4 770 c.724G>A c.(724-726)Gac>Aac p.D242N MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.D23N|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA NM_130760.2 NP_570116.2 Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion molecule 1 242 5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like. NA D -> N (in Ref. 2; AAB02194 and 3; AAC51354). {ECO:0000305}. aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) integrin binding involved in cell-matrix adhesion (GO:0098640) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGTCTCCCGACACCACCTC 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 26 42 36 NA NA 19 NA 501725 2201 4299 6500 SO:0001583 missense U43628 CCDS12028.1, CCDS12029.1 19p13.3 2013-01-11 ENSG00000099866 ENSG00000099866 8174 Immunoglobulin superfamily / Immunoglobulin-like domain containing 6765 protein-coding gene gene with protein product mucosal addressin cell adhesion molecule-1 102670 NA 9162097, 8609404 Standard NM_130760 NM_130762 NA Approved MACAM1 uc002los.3 Q13477 OTTHUMG00000180548 ENST00000215637.3:c.724G>A chr19.hg19:g.501725G>A ENSP00000215637:p.Asp242Asn NA A5PKV4|B2RPL9|O60222|O75867|Q5UGI7 hg19 CCDS12028.1 0.02 -0.376718 CCCxACA COVERED 618 0.28296703296703296 75 0.1524390243902439 133 0.3674033149171271 184 0.32167832167832167 226 0.29815303430079154 g 7.171 0.587634 0.13812 . . ENSG00000099866 ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637 T 0.10288 2.89 3.55 -1.32 0.09201 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.48670 -0.9015 8 0.22109 T 0.4 . 3.1363 0.06439 0.2817:0.0:0.3626:0.3557 rs62130833 242 Q13477 MADCA_HUMAN N 266;258;250;242 ENSP00000215637:D242N ENSP00000215637:D242N D + 1 0 MADCAM1 452725 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.632000 0.05489 -0.229000 0.09854 -0.378000 0.06908 GAC NOVEL MADCAM1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451884.1 1 4.444926 KEEP 2 1 32 26 797 GG 0.999988 0.909058 0 + 4 60 134 0 0 10.616907 20 60 632 97 ENST00000215637.3 0.166667 0.909069 MADCAM1 8174 __UNKNOWN__ __UNKNOWN__ 19 501900 501900 __UNKNOWN__ Missense_Mutation SNP C C A rs3745925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:501900C>A ENST00000215637.3 + 4 945 c.899C>A c.(898-900)cCc>cAc p.P300H MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P81H|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA NM_130760.2 NP_570116.2 Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion molecule 1 300 Mucin-like. NA P -> H (in dbSNP:rs3745925). aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) integrin binding involved in cell-matrix adhesion (GO:0098640) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGCTGGGCCCACGCAGGGA 0.667 NA C||| 1088 0.217252 0.2103 0.2017 5008 , , NA 11442 0.3224 NA 0.2386 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 C HIS/PRO, 870,3470 95,680,1395 8 9 8 899, -0.8 0 19 dbSNP_107 8 1715,6805 191,1333,2736 yes missense,intron MADCAM1 NM_130760.2,NM_130762.2 77, 286,2013,4131 AA,AC,CC 20.1291,20.0461,20.1011 probably-damaging, 300/383, 501900 2585,10275 2170 4260 6430 SO:0001583 missense U43628 CCDS12028.1, CCDS12029.1 19p13.3 2013-01-11 ENSG00000099866 ENSG00000099866 8174 Immunoglobulin superfamily / Immunoglobulin-like domain containing 6765 protein-coding gene gene with protein product mucosal addressin cell adhesion molecule-1 102670 NA 9162097, 8609404 Standard NM_130760 NM_130762 NA Approved MACAM1 uc002los.3 Q13477 OTTHUMG00000180548 ENST00000215637.3:c.899C>A chr19.hg19:g.501900C>A ENSP00000215637:p.Pro300His NA A5PKV4|B2RPL9|O60222|O75867|Q5UGI7 hg19 CCDS12028.1 0.02 2.033164 GGCxCAC COVERED 566 0.2591575091575092 102 0.2073170731707317 82 0.2265193370165746 192 0.3356643356643357 190 0.25065963060686014 c 0.244 -1.011721 0.02095 0.200461 0.201291 ENSG00000099866 ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637 T 0.10382 2.88 1.75 -0.825 0.10809 . 1.969940 0.03219 U 0.177235 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 D 0.67145 0.996 P 0.46172 0.506 T 0.28964 -1.0027 9 0.46703 T 0.11 . 0.5786 0.00708 0.2459:0.3319:0.2439:0.1782 rs3745925;rs58652856;rs3745925 300 Q13477 MADCA_HUMAN H 324;316;308;300 ENSP00000215637:P300H ENSP00000215637:P300H P + 2 0 MADCAM1 452900 0.002000 0.14202 0.000000 0.03702 0.004000 0.04260 0.049000 0.14099 -0.143000 0.11334 0.650000 0.86243 CCC NOVEL MADCAM1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451884.1 0 8.361013 KEEP 0 1 29 38 1318 CC 1 0.999678 0 + 4 60 150 0 0 9.88501 82 60 2976 160 ENST00000215637.3 0.046512 0.999678 CDC34 997 __UNKNOWN__ __UNKNOWN__ 19 536088 536088 __UNKNOWN__ Intron SNP C C T rs4264506 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:536088C>T ENST00000215574.4 + 3 482 NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 NA NA cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848) cytoplasm (GO:0005737)|nucleus (GO:0005634) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842) large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCCGGGACCCGAGGCGCTGG 0.726 NA C||| 1880 0.375399 0.0242 0.5274 5008 , , NA 15091 0.6171 NA 0.4543 False NA ,,, NA NA NA 2504 0.4121 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L22005 CCDS12030.1 19p13.3 2013-01-17 2013-01-17 997 Ubiquitin-conjugating enzymes E2 1734 protein-coding gene gene with protein product 116948 cell division cycle 34, cell division cycle 34 homolog (S. cerevisiae) NA 8248134, 16210246 Standard NM_004359 NM_004359 NA Approved E2-CDC34, UBE2R1, UBC3 uc002lov.3 P49427 ENST00000215574.4:c.265-155C>T chr19.hg19:g.536088C>T NA A8K689 hg19 CCDS12030.1 0.02 4.109904 ACCxGAG COVERED NOVEL CDC34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451889.2 1 10.231375 KEEP 1 0 0 34 1111 CC 0.999998 0.999998 0 + 6 60 194 0 0 12.179536 107 60 3612 179 ENST00000215574.4 0.053097 1 GZMM 3004 __UNKNOWN__ __UNKNOWN__ 19 544277 544277 __UNKNOWN__ Intron SNP C C G rs12981692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:544277C>G ENST00000264553.3 + 1 93 NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) NA NA apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087) extracellular region (GO:0005576)|membrane (GO:0016020) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGCATCCCGAGCTCCTCA 0.672 NA c||| 812 0.162141 0.0862 0.2406 5008 , , NA 17188 0.0933 NA 0.3131 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12031.1, CCDS74240.1 19p13.3 2008-07-16 ENSG00000197540 3004 4712 protein-coding gene gene with protein product lymphocyte met-ase 1 600311 NA 8119738 Standard NM_005317 NM_005317 NA Approved MET1, LMET1 uc002low.2 P51124 ENST00000264553.3:c.55+151C>G chr19.hg19:g.544277C>G NA hg19 CCDS12031.1 0.02 2.215346 TCCxGAG COVERED NOVEL GZMM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451895.2 0 7.521556 KEEP 0 0 0 25 826 CC 0.999931 0.999699 0 + 9 60 325 0 0 24.183344 79 60 2839 143 ENST00000264553.3 0.102273 0.999768 GZMM 3004 __UNKNOWN__ __UNKNOWN__ 19 544315 544315 __UNKNOWN__ Intron SNP A A G rs3760874 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:544315A>G ENST00000264553.3 + 1 93 NM_001258351.1|NM_005317.3 NP_001245280.1|NP_005308 P51124 GRAM_HUMAN granzyme M (lymphocyte met-ase 1) NA NA apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087) extracellular region (GO:0005576)|membrane (GO:0016020) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) endometrium(1)|large_intestine(1)|prostate(1) 3 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACATCCCGGGACCGTGGGAGA 0.642 NA a||| 2997 0.598442 0.3109 0.8458 5008 , , NA 16354 0.628 NA 0.837 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12031.1, CCDS74240.1 19p13.3 2008-07-16 ENSG00000197540 3004 4712 protein-coding gene gene with protein product lymphocyte met-ase 1 600311 NA 8119738 Standard NM_005317 NM_005317 NA Approved MET1, LMET1 uc002low.2 P51124 ENST00000264553.3:c.55+189A>G chr19.hg19:g.544315A>G NA hg19 CCDS12031.1 0.02 2.052914 GGGxCCG COVERED NOVEL GZMM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451895.2 0 3.908859 KEEP 0 0 0 13 358 AA 0.994391 0.983992 0 + 5 60 170 0 0 11.877635 56 60 1933 80 ENST00000264553.3 0.081967 0.989542 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 578239 578239 __UNKNOWN__ Intron SNP C C T rs2283571 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:578239C>T ENST00000333511.3 + 2 485 BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTGTGCCCCGTTGGGCCCA 0.746 NA C||| 2658 0.530751 0.6921 0.5418 5008 , , NA 14489 0.5278 NA 0.336 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.415+118C>T chr19.hg19:g.578239C>T NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 1.892895 CCCxGTT COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 1 5.716293 KEEP 0 0 0 19 590 CC 0.99986 0.995547 0 + 5 60 176 0 0 12.235456 63 60 1994 94 ENST00000333511.3 0.073529 0.995687 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 579010 579010 __UNKNOWN__ Intron SNP G G A rs7253615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:579010G>A ENST00000333511.3 + 3 485 BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) gattacaggcgtgagcctccg 0.592 NA N||| 3558 0.710463 0.9024 0.6354 5008 , , NA 17079 0.752 NA 0.4205 False NA ,,, NA NA NA 2504 0.7597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.416-490G>A chr19.hg19:g.579010G>A NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 2.182413 GGCxTGA COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 2 6.921521 KEEP 0 0 0 23 763 GG 0.999892 0.996125 0 + 4 60 153 0 0 10.577372 65 60 2047 106 ENST00000333511.3 0.057971 0.996233 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 579035 579035 __UNKNOWN__ Intron SNP C C T rs2283572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:579035C>T ENST00000333511.3 + 3 485 BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) cggccACCACCGCGCCCAGCT 0.612 NA C||| 1635 0.326478 0.3283 0.2867 5008 , , NA 15904 0.4554 NA 0.1889 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.416-465C>T chr19.hg19:g.579035C>T NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 4.888897 CACxGCG COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 6 8.126414 KEEP 0 0 0 27 949 CC 0.999988 0.999956 0 + 8 60 302 0 0 21.912713 92 60 3273 151 ENST00000333511.3 0.08 0.999968 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 580268 580268 __UNKNOWN__ Intron SNP G G C rs2108832 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:580268G>C ENST00000333511.3 + 4 642 BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGACTTGACTGGGACAGTTTT 0.612 NA G||| 1636 0.326677 0.3275 0.2867 5008 , , NA 17153 0.4563 NA 0.1899 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.573-111G>C chr19.hg19:g.580268G>C NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 9.062444 ACTxGGA COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 4 19.562751 KEEP 0 0 0 65 2286 GG 1 1 0 + 12 60 440 0 0 29.08765 226 60 8703 375 ENST00000333511.3 0.05042 1 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 580333 580333 __UNKNOWN__ Intron SNP G G A rs11879069 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:580333G>A ENST00000333511.3 + 4 642 BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGGAGGCGTCCTGCAGAG 0.612 NA G||| 1635 0.326478 0.3275 0.2867 5008 , , NA 17629 0.4563 NA 0.1889 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 G ,, 1290,3110 428.0+/-341.7 200,890,1110 43 40 41 ,, 0.9 0 19 dbSNP_120 41 1842,6754 323.7+/-316.1 197,1448,2653 no intron,intron,intron BSG NM_001728.2,NM_198589.1,NM_198591.1 ,, 397,2338,3763 AA,AG,GG 21.4286,29.3182,24.0997 ,, ,, 580333 3132,9864 2200 4298 6498 SO:0001627 intron_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.573-46G>A chr19.hg19:g.580333G>A NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 11.65321 GGCxTCC COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 4 25.234462 KEEP 0 0 0 84 2857 GG 1 1 0 + 17 60 614 0 0 41.957766 255 60 9000 474 ENST00000333511.3 0.0625 1 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 580665 580665 __UNKNOWN__ Silent SNP T T C rs4682 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:580665T>C ENST00000333511.3 + 5 745 c.675T>C c.(673-675)gcT>gcC p.A225A BSG_ENST00000353555.4_Silent_p.A109A|BSG_ENST00000545507.2_Silent_p.A16A|BSG_ENST00000346916.4_Silent_p.A45A NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) 225 Ig-like V-type. NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGTGAAGGCTGTGAAGTCGT 0.637 NA T||| 1635 0.326478 0.3275 0.2853 5008 , , NA 16585 0.4563 NA 0.1899 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 T ,, 1289,3113 431.0+/-342.8 202,885,1114 60 60 60 675,327,135 -8.2 0 19 dbSNP_52 60 1845,6755 328.2+/-318.2 199,1447,2654 no coding-synonymous,coding-synonymous,coding-synonymous BSG NM_001728.2,NM_198589.1,NM_198591.1 ,, 401,2332,3768 CC,CT,TT 21.4535,29.2821,24.104 ,, 225/386,109/270,45/206 580665 3134,9868 2201 4300 6501 SO:0001819 synonymous_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.675T>C chr19.hg19:g.580665T>C NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 10.548894 GGCxGTG COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 2 26.766557 KEEP 0 0 0 89 2758 TT 1 1 0 + 16 60 560 0 0 36.923677 268 60 9937 471 ENST00000333511.3 0.056338 1 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 582505 582505 __UNKNOWN__ Intron SNP G G A rs2072309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:582505G>A ENST00000333511.3 + 8 1164 BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCCCCTCGTGCCCCAGGA 0.672 NA G||| 1579 0.315296 0.3064 0.2839 5008 , , NA 7549 0.4494 NA 0.1918 False NA ,,, NA NA NA 2504 0.3384 NA NA NA NA 0 G ,, 1210,3160 183,844,1158 19 19 19 ,, -5.5 0 19 dbSNP_96 19 1848,6728 204,1440,2644 no intron,intron,intron BSG NM_001728.2,NM_198589.1,NM_198591.1 ,, 387,2284,3802 AA,AG,GG 21.5485,27.6888,23.6212 ,, ,, 582505 3058,9888 2185 4288 6473 SO:0001627 intron_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.1095-9G>A chr19.hg19:g.582505G>A NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 1.945947 CTCxTGC COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 1 17.154657 KEEP 0 0 0 57 2009 GG 1 0.99993 0 + 11 60 424 0 0 32.864604 84 60 2998 216 ENST00000333511.3 0.115789 0.99993 BSG 682 __UNKNOWN__ __UNKNOWN__ 19 582927 582927 __UNKNOWN__ 3'UTR SNP T T A rs8259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:582927T>A ENST00000333511.3 + 0 1411 BSG_ENST00000353555.4_3'UTR|BSG_ENST00000545507.2_3'UTR|BSG_ENST00000346916.4_3'UTR NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin (Ok blood group) NA NA blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281) acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383) mannose binding (GO:0005537) central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTTCCTTAGGTTTTTTTCCTT 0.507 NA T||| 2612 0.521565 0.556 0.3804 5008 , , NA 13341 0.6855 NA 0.3032 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L10240 CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1 19p13.3 2014-07-19 2014-01-02 ENSG00000172270 ENSG00000172270 682 CD molecules, Blood group antigens, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1116 protein-coding gene gene with protein product Ok blood group 109480 basigin OK NA 8404035, 7812975 Standard NM_001728 NM_198591 NA Approved EMMPRIN, CD147 uc002loz.4 P35613 ENST00000333511.3:c.*183T>A chr19.hg19:g.582927T>A NA A6NJW1|D3YLG5|Q7Z796|Q8IZL7 hg19 CCDS12033.1 0.02 1.991417 AGGxTTT COVERED NOVEL BSG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000438630.2 1 8.125052 KEEP 0 0 0 27 864 TT 0.999988 0.995674 0 + 4 60 148 0 0 10.103395 64 60 2272 117 ENST00000333511.3 0.058824 0.995687 HCN2 610 __UNKNOWN__ __UNKNOWN__ 19 614033 614033 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:614033C>T ENST00000251287.2 + 7 2043 NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 NA NA cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248) endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCGGGGGCGTGGCCGGGG 0.706 NA NA NA NA NA NA NA NA NA NA Melanoma(145;1175 2427 8056 36306) NA 0 10 10 10 NA NA 19 NA 614033 2130 4168 6298 SO:0001627 intron_variant AF064877 CCDS12035.1 19p13 2011-07-05 ENSG00000099822 610 Voltage-gated ion channels / Cyclic nucleotide-regulated channels 4846 protein-coding gene gene with protein product 602781 BCNG2 NA 9405696, 9630217, 16382102 Standard NM_001194 NM_001194 NA Approved BCNG-2, HAC-1 uc002lpe.3 Q9UL51 ENST00000251287.2:c.1990+17C>T chr19.hg19:g.614033C>T NA O60742|O60743|O75267|Q9UBS2 hg19 CCDS12035.1 0.02 -0.306618 GGGxGTG COVERED NOVEL HCN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452100.1 0 4.178997 KEEP 0 0 0 14 471 CC 0.995343 0.796519 0 + 3 60 101 0 0 7.128327 31 60 963 65 ENST00000251287.2 0.088235 0.800245 FGF22 27006 __UNKNOWN__ __UNKNOWN__ 19 641129 641129 __UNKNOWN__ Intron SNP G G T rs11572860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:641129G>T ENST00000215530.5 + 1 245 FGF22_ENST00000586042.2_Intron NM_020637.1 NP_065688.1 Q9HCT0 FGF22_HUMAN fibroblast growth factor 22 NA NA cell differentiation (GO:0030154)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730) endometrium(1)|lung(1)|prostate(1) 3 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCCCttcgtgcattcgct 0.647 NA G||| 486 0.0970447 0.1089 0.0821 5008 , , NA 16400 0.1131 NA 0.002 False NA ,,, NA NA NA 2504 0.1728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12037.1, CCDS74241.1 19p13.3 2008-07-04 ENSG00000070388 27006 3679 protein-coding gene gene with protein product 605831 NA 15260994, 16597617 Standard NM_020637 NA Approved uc010xfq.2 Q9HCT0 ENST00000215530.5:c.214+990G>T chr19.hg19:g.641129G>T NA B2RPH4 hg19 CCDS12037.1 0.02 4.680431 TTCxTGC COVERED NOVEL FGF22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452103.1 0 15.34694 KEEP 0 0 0 51 1709 GG 1 0.999973 0 + 7 60 264 0 0 18.664592 95 60 3340 197 ENST00000215530.5 0.068627 0.999973 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 646900 646900 __UNKNOWN__ IGR SNP A A G rs7249518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:646900A>G NA NA FGF22 (3197 upstream) : RNF126 (625 downstream) NA NA NA CGCGGGACACAGTGAAGAGTG 0.682 NA G||| 2808 0.560703 0.7973 0.4524 5008 , , NA 14858 0.4187 NA 0.5268 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 G 1038,338 390,258,40 10 12 12 -0.9 0 19 dbSNP_116 12 1695,1481 468,759,361 no near-gene-3 858,1017,401 GG,GA,AA 46.631,24.564,39.9605 646900 2733,1819 688 1588 2276 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.646900A>G NA hg19 0.02 9.572807 CACxGTG COVERED NOVEL 0 1 29.021231 KEEP 0 1 30 107 3348 AA 1 1 0 10 60 368 0 0 24.034758 204 60 7603 419 0.046729 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 707144 707144 __UNKNOWN__ IGR SNP G G A rs28641712 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:707144G>A NA NA PRSS57 (11684 upstream) : PALM (1808 downstream) NA NA NA caccgcgcccggcctggtctc 0.577 NA G||| 917 0.183107 0.1331 0.1859 5008 , , NA 15140 0.1558 NA 0.2028 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.707144G>A NA hg19 0.02 -0.070185 CCCxGCC UNCOVERED NOVEL 0 2 6.610819 KEEP 1 0 0 22 717 GG 0.999869 0.05413 0 2 60 74 0 0 6.400582 6 60 215 42 0.25 0.054137 PALM 5064 __UNKNOWN__ __UNKNOWN__ 19 734326 734326 __UNKNOWN__ Intron SNP G G A rs113598205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:734326G>A ENST00000338448.5 + 6 488 PALM_ENST00000264560.7_Intron|PALM_ENST00000593172.1_Intron NM_002579.2 NP_002570.2 O75781 PALM_HUMAN paralemmin NA NA cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074) apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886) endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) ttgggaggccgaggcgggtag 0.582 NA G||| 263 0.052516 0.0749 0.0389 5008 , , NA 18084 0.0744 NA 0.0239 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y16270 CCDS32857.1, CCDS32858.1 19p13.3 2008-07-17 ENSG00000099864 5064 8594 protein-coding gene gene with protein product 608134 NA 9615234, 9813098 Standard NM_002579 XM_005259565 NA Approved KIAA0270 uc002lpm.1 O75781 ENST00000338448.5:c.442+132G>A chr19.hg19:g.734326G>A NA O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3 hg19 CCDS32857.1 0.02 1.719536 GCCxAGG COVERED NOVEL PALM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457592.1 1 5.115194 KEEP 0 0 0 17 536 GG 0.999366 0.999322 0 + 5 60 179 0 0 11.690143 94 60 3495 118 ENST00000338448.5 0.050505 0.999956 PTBP1 5725 __UNKNOWN__ __UNKNOWN__ 19 804456 804456 __UNKNOWN__ Intron SNP G G A rs351980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:804456G>A ENST00000349038.4 + 5 508 PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Intron|PTBP1_ENST00000394601.4_Intron NM_031991.3 NP_114368.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 NA NA alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCCGCGGCGGACCCCAGCA 0.741 NA G||| 1064 0.21246 0.3502 0.1167 5008 , , NA 12062 0.2401 NA 0.1054 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 G ,,, 1394,2996 235,924,1036 26 25 25 ,,, -1.4 0 19 dbSNP_79 25 769,7827 42,685,3571 no intron,intron,intron,intron PTBP1 NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2 ,,, 277,1609,4607 AA,AG,GG 8.946,31.754,16.6564 ,,, ,,, 804456 2163,10823 2195 4298 6493 SO:0001627 intron_variant X60648 CCDS32859.1, CCDS42456.1, CCDS45892.1 19p13.3 2013-07-16 2002-01-25 2002-01-25 ENSG00000011304 ENSG00000011304 5725 RNA binding motif (RRM) containing 9583 protein-coding gene gene with protein product heterogeneous nuclear ribonucleoprotein I 600693 polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I) PTB NA 1906036, 11024286 Standard NM_002819 NA Approved HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB uc002lpp.2 P26599 ENST00000349038.4:c.435+18G>A chr19.hg19:g.804456G>A NA Q9BUQ0 hg19 CCDS32859.1 0.02 1.722716 GGCxGAC COVERED NOVEL PTBP1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457605.1 3 13.011772 KEEP 0 1 33 55 1797 GG 1 0.998696 0 + 5 60 168 0 0 11.185817 71 60 2308 164 ENST00000349038.4 0.065789 0.998696 PRTN3 5657 __UNKNOWN__ __UNKNOWN__ 19 846041 846041 __UNKNOWN__ Intron SNP C C T rs629631 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:846041C>T ENST00000234347.5 + 4 415 PRTN3_ENST00000544537.2_Intron NM_002777.3 NP_002768.3 P24158 PRTN3_HUMAN proteinase 3 NA NA collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284) cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) lung(1)|ovary(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCGGCATCCGCGGCGTTTT 0.602 NA C||| 1569 0.313299 0.4766 0.281 5008 , , NA 14534 0.4544 NA 0.0895 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32860.1 19p13.3 2008-07-31 2008-07-31 ENSG00000196415 5657 9495 protein-coding gene gene with protein product myeloblastin, serine proteinase, neutrophil, Wegener granulomatosis autoantigen 177020 NA 2258701 Standard NM_002777 NM_002777 NA Approved PR-3, ACPA, C-ANCA, AGP7, MBT, P29 uc002lqa.1 P24158 ENST00000234347.5:c.370-106C>T chr19.hg19:g.846041C>T NA P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8 hg19 CCDS32860.1 0.02 2.070352 ATCxGCG COVERED NOVEL PRTN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457888.2 1 8.12567 KEEP 0 0 0 27 923 CC 0.999988 0.986141 0 + 4 60 150 0 0 10.557634 55 60 2079 93 ENST00000234347.5 0.067797 0.986153 TMEM259 91304 __UNKNOWN__ __UNKNOWN__ 19 1011204 1011204 __UNKNOWN__ Intron SNP G G A rs375803919 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1011204G>A ENST00000356663.3 - 10 1339 TMEM259_ENST00000333175.5_Intron NM_001033026.1 NP_001028198.1 Q4ZIN3 MBRL_HUMAN transmembrane protein 259 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) NA CCTGCGGGGCGGGGTGAGGGC 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 , 2,4366 0,2,2182 25 23 24 , NA 0 19 24 0,8572 0,0,4286 no intron,intron C19orf6 NM_001033026.1,NM_033420.3 , 0,2,6468 AA,AG,GG 0.0,0.0458,0.0155 , , 1011204 2,12938 2184 4286 6470 SO:0001627 intron_variant BC008957 CCDS12052.1, CCDS32862.1 19p13.3 2013-02-06 2013-02-06 2013-02-06 ENSG00000182087 ENSG00000182087 91304 17039 protein-coding gene gene with protein product membralin, aspecific BCL2 ARE-binding protein 1 611011 chromosome 19 open reading frame 6 C19orf6 NA 12638133, 16084606 Standard NM_033420 XM_005259675 NA Approved MGC4022, ASBABP1, MBRL uc002lqr.1 Q4ZIN3 ENST00000356663.3:c.1218-10C>T chr19.hg19:g.1011204G>A NA O60392|Q8NF79|Q96H30 hg19 CCDS32862.1 0.02 6.33771 GGCxGGG COVERED NOVEL TMEM259-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000458236.1 0 28.291321 KEEP 0 0 0 94 3318 GG 1 1 0 - 6 60 223 0 0 13.833644 168 60 6010 364 ENST00000356663.3 0.034483 1 TMEM259 91304 __UNKNOWN__ __UNKNOWN__ 19 1012440 1012440 __UNKNOWN__ Intron SNP A A C rs11672715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1012440A>C ENST00000356663.3 - 4 840 TMEM259_ENST00000333175.5_Intron NM_001033026.1 NP_001028198.1 Q4ZIN3 MBRL_HUMAN transmembrane protein 259 NA NA cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) NA GGAGCTCCCCAAGCCCAGCAG 0.692 NA N||| 959 0.191494 0.2315 0.1225 5008 , , NA 14222 0.1151 NA 0.2038 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 C , 745,3609 64,617,1496 21 20 20 , -2.2 0 19 dbSNP_120 20 1369,7193 131,1107,3043 no intron,intron C19orf6 NM_001033026.1,NM_033420.3 , 195,1724,4539 CC,CA,AA 15.9893,17.1107,16.3673 , , 1012440 2114,10802 2177 4281 6458 SO:0001627 intron_variant BC008957 CCDS12052.1, CCDS32862.1 19p13.3 2013-02-06 2013-02-06 2013-02-06 ENSG00000182087 ENSG00000182087 91304 17039 protein-coding gene gene with protein product membralin, aspecific BCL2 ARE-binding protein 1 611011 chromosome 19 open reading frame 6 C19orf6 NA 12638133, 16084606 Standard NM_033420 XM_005259675 NA Approved MGC4022, ASBABP1, MBRL uc002lqr.1 Q4ZIN3 ENST00000356663.3:c.718+21T>G chr19.hg19:g.1012440A>C NA O60392|Q8NF79|Q96H30 hg19 CCDS32862.1 0.02 4.296467 CCCxAGC COVERED NOVEL TMEM259-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000458236.1 1 13.372015 KEEP 0 1 36 57 1730 AA 1 0.999999 0 - 5 60 191 0 0 12.575226 109 60 3929 218 ENST00000356663.3 0.04386 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 1181376 1181376 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1181376G>A NA NA SBNO2 (7094 upstream) : STK11 (8029 downstream) NA NA NA ttacaggcgtgagccaccgct 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.1181376G>A NA hg19 0.02 -0.026321 CGTxAGC UNCOVERED NOVEL 0 4 2.407763 KEEP 1 0 0 8 282 GG 0 0 0 2 60 78 0 0 7.924877 1 60 40 13 0.666667 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 1181386 1181386 __UNKNOWN__ IGR SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1181386T>G NA NA SBNO2 (7104 upstream) : STK11 (8019 downstream) NA NA NA gagccaccgctcccggcctgt 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.1181386T>G NA hg19 0.02 -0.026321 CGCxCCC UNCOVERED NOVEL 0 4 2.405879 KEEP 1 0 0 8 250 TT 0 0 0 2 60 78 0 0 7.924871 1 60 41 14 0.666667 0 STK11 6794 __UNKNOWN__ __UNKNOWN__ 19 1219274 1219274 __UNKNOWN__ Intron SNP G G A rs34928889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1219274G>A ENST00000326873.7 + 3 1547 STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 NA NA activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398) ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674) p.0?(20)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCTCCCTGGGCCTGTGAGT 0.667 14 D, Mis, N, F, S NSCLC, pancreatic jejunal harmartoma, ovarian, testicular, pancreatic Peutz-Jeghers syndrome TSP Lung(3;<1E-08) G||| 2655 0.530152 0.4728 0.4207 5008 , , NA 12381 0.8522 NA 0.4394 False NA ,,, NA NA NA 2504 0.4468 NA NA NA yes Rec yes Peutz-Jeghers syndrome 19 19p13.3 6794 serine/threonine kinase 11 gene (LKB1) E, M, O 22 Whole gene deletion(20)|Unknown(2) cervix(15)|lung(3)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1) G 1839,2347 447,945,701 27 28 28 2 0 19 dbSNP_126 28 3504,4922 761,1982,1470 no intron STK11 NM_000455.4 1208,2927,2171 AA,AG,GG 41.5856,43.9322,42.3644 1219274 5343,7269 2093 4213 6306 SO:0001627 intron_variant Familial Cancer Database PJS, Hamartous Intestinal Polyposis U63333 CCDS45896.1 19p13.3 2014-09-17 2005-12-13 ENSG00000118046 6794 11389 protein-coding gene gene with protein product polarization-related protein LKB1 602216 serine/threonine kinase 11 (Peutz-Jeghers syndrome) NA 9425897 Standard NM_000455 XM_005259617 NA Approved PJS, LKB1 uc002lrl.1 Q15831 ENST00000326873.7:c.375-49G>A chr19.hg19:g.1219274G>A NA B2RBX7|E7EW76 hg19 CCDS45896.1 0.02 3.978779 CTGxGCC COVERED NOVEL STK11-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449839.3 0 16.553372 KEEP 0 0 0 55 1920 GG 1 1 0 + 7 60 252 0 0 16.30547 141 60 5137 256 ENST00000326873.7 0.047297 1 MIDN 90007 __UNKNOWN__ __UNKNOWN__ 19 1251781 1251781 __UNKNOWN__ Intron SNP A A G rs2285811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1251781A>G ENST00000591446.2 + 3 730 MIDN_ENST00000300952.2_Intron Q504T8 MIDN_HUMAN midnolin NA NA cytosol (GO:0005829)|nucleolus (GO:0005730) NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACCCCCTATTCCAGCCCA 0.662 NA g||| 2956 0.590256 0.764 0.4481 5008 , , NA 13531 0.6161 NA 0.4612 False NA ,,, NA NA NA 2504 0.5624 NA NA NA NA 0 991,393 356,279,57 85 80 81 1.1 0 19 dbSNP_100 81 1415,1767 318,779,494 no intron MIDN NM_177401.4 674,1058,551 GG,GA,AA 44.4689,28.396,47.3062 1251781 2406,2160 692 1591 2283 SO:0001627 intron_variant AC004221 CCDS32864.1 19p13.3 2013-09-20 ENSG00000167470 ENSG00000167470 90007 16298 protein-coding gene gene with protein product 606700 NA 10974535 Standard XM_005259671 NA Approved uc002lrp.3 Q504T8 OTTHUMG00000180144 ENST00000591446.2:c.322-57A>G chr19.hg19:g.1251781A>G NA Q96BW8 hg19 CCDS32864.1 0.02 12.965368 CCTxTTC COVERED NOVEL MIDN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449965.2 6 85.08598 KEEP 0 2 72 308 9187 AA 1 1 0 + 12 60 445 0 0 28.308871 291 60 9670 768 ENST00000591446.2 0.039604 1 MIDN 90007 __UNKNOWN__ __UNKNOWN__ 19 1256998 1256998 __UNKNOWN__ Silent SNP C C T rs9823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1256998C>T ENST00000591446.2 + 7 1543 c.1134C>T c.(1132-1134)gaC>gaT p.D378D MIDN_ENST00000300952.2_Silent_p.D378D Q504T8 MIDN_HUMAN midnolin 378 NA cytosol (GO:0005829)|nucleolus (GO:0005730) NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCAGGGGACCGGCTTCGGC 0.632 NA c||| 1512 0.301917 0.0825 0.3444 5008 , , NA 16413 0.4901 NA 0.3479 False NA ,,, NA NA NA 2504 0.3272 NA NA NA NA 0 C 546,3856 34,478,1689 28 32 31 1134 2.4 1 19 dbSNP_52 31 2932,5652 500,1932,1860 no coding-synonymous MIDN NM_177401.4 534,2410,3549 TT,TC,CC 34.1566,12.4035,26.7827 378/469 1256998 3478,9508 2201 4292 6493 SO:0001819 synonymous_variant AC004221 CCDS32864.1 19p13.3 2013-09-20 ENSG00000167470 ENSG00000167470 90007 16298 protein-coding gene gene with protein product 606700 NA 10974535 Standard XM_005259671 NA Approved uc002lrp.3 Q504T8 OTTHUMG00000180144 ENST00000591446.2:c.1134C>T chr19.hg19:g.1256998C>T NA Q96BW8 hg19 CCDS32864.1 0.02 6.616249 GGAxCGG COVERED NOVEL MIDN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449965.2 2 72.140308 KEEP 0 1 29 250 8746 CC 1 1 0 + 6 60 229 0 0 14.589418 158 60 5800 551 ENST00000591446.2 0.036585 1 PLK5 126520 __UNKNOWN__ __UNKNOWN__ 19 1535205 1535205 __UNKNOWN__ Missense_Mutation SNP G G C rs265282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1535205G>C ENST00000334770.4 + 13 1856 c.967G>C c.(967-969)Gga>Cga p.G323R PLK5_ENST00000454744.2_Missense_Mutation_p.G323R Q496M5 PLK5_HUMAN polo-like kinase 5 323 POLO box. NA G -> R (in Ref. 2; ABD83663). {ECO:0000305}. cellular response to growth factor stimulus (GO:0071363)|defense response to tumor cell (GO:0002357)|G2 DNA damage checkpoint (GO:0031572)|mitotic nuclear division (GO:0007067)|positive regulation of neuron projection development (GO:0010976)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|transformed cell apoptotic process (GO:0006927) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672) NA CCCCACCACCGGACAGCACCT 0.677 NA C||| 2543 0.507788 0.6808 0.3991 5008 , , NA 15787 0.629 NA 0.2207 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense DQ424898 CCDS59328.1 19p13.3 2012-11-19 2011-07-14 2011-07-14 ENSG00000185988 ENSG00000185988 126520 27001 protein-coding gene gene with protein product polo-like kinase 5 pseudogene, polo-like kinase 5, pseudogene PLK5P NA 21245385 Standard NR_026557 NM_001243079 NA Approved SgK384ps uc002ltf.3 Q496M5 OTTHUMG00000180073 ENST00000334770.4:c.967G>C chr19.hg19:g.1535205G>C ENSP00000466248:p.Gly323Arg NA B3KNR4|Q1ZYM0 hg19 CCDS59328.1 0.02 8.67626 ACCxGAC COVERED NOVEL PLK5-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449628.1 0 17.455251 KEEP 0 0 0 58 1978 GG 1 1 0 + 9 60 322 0 0 19.708067 239 60 8447 398 ENST00000334770.4 0.03629 1 TCF3 6929 __UNKNOWN__ __UNKNOWN__ 19 1622116 1622116 __UNKNOWN__ Silent SNP G G A rs2240590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1622116G>A ENST00000262965.5 - 10 1103 c.759C>T c.(757-759)agC>agT p.S253S TCF3_ENST00000395423.3_Silent_p.S202S|TCF3_ENST00000588136.1_Silent_p.S253S|TCF3_ENST00000453954.2_Silent_p.S169S|TCF3_ENST00000344749.5_Silent_p.S253S NM_003200.3 NP_003191.1 Q9HCS4 TF7L1_HUMAN transcription factor 3 0 Pro-rich. NA anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACCGGGCCGCTACCGGGCG 0.741 NA T PBX1, HLF, TFPT pre B-ALL g||| 1698 0.339058 0.593 0.2925 5008 , , NA 10107 0.244 NA 0.1163 False NA ,,, NA NA NA 2504 0.3558 NA NA NA Dom yes 19 19p13.3 6929 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) L 0 G , 1908,2318 433,1042,638 6 7 7 759,759 2.7 0.2 19 dbSNP_98 7 1001,7343 85,831,3256 no coding-synonymous,coding-synonymous TCF3 NM_001136139.2,NM_003200.3 , 518,1873,3894 AA,AG,GG 11.9966,45.1491,23.1424 , 253/652,253/655 1622116 2909,9661 2113 4172 6285 SO:0001819 synonymous_variant M65214 CCDS12074.1, CCDS45899.1 19p13.3 2014-02-13 2013-02-26 ENSG00000071564 ENSG00000071564 6929 Basic helix-loop-helix proteins 11633 protein-coding gene gene with protein product transcription factor E2-alpha, immunoglobulin transcription factor 1, kappa-E2-binding factor, E2A immunoglobulin enhancer-binding factor E12/E47, VDR interacting repressor 147141 NA 2308859, 1967983 Standard NM_003200 NM_003200 NA Approved E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47 uc002ltt.4 P15923 OTTHUMG00000180031 ENST00000262965.5:c.759C>T chr19.hg19:g.1622116G>A NA Q53R97|Q6PD70|Q9NP00 hg19 CCDS12074.1 0.02 1.734149 GCCxCTA COVERED NOVEL TCF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000449367.1 0 11.736908 KEEP 0 0 0 39 1329 GG 1 0.999678 0 - 4 60 142 0 0 9.086752 82 60 2751 162 ENST00000262965.5 0.046512 0.999678 TCF3 6929 __UNKNOWN__ __UNKNOWN__ 19 1646213 1646213 __UNKNOWN__ Intron SNP G G A rs2302418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1646213G>A ENST00000262965.5 - 3 490 TCF3_ENST00000395423.3_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron NM_003200.3 NP_003191.1 Q9HCS4 TF7L1_HUMAN transcription factor 3 NA NA anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCAGGCTCGCTGCCCCCGA 0.677 NA T PBX1, HLF, TFPT pre B-ALL G||| 295 0.0589058 0.0 0.1023 5008 , , NA 11707 0.1726 NA 0.0 False NA ,,, NA NA NA 2504 0.0511 NA NA NA Dom yes 19 19p13.3 6929 transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M65214 CCDS12074.1, CCDS45899.1 19p13.3 2014-02-13 2013-02-26 ENSG00000071564 ENSG00000071564 6929 Basic helix-loop-helix proteins 11633 protein-coding gene gene with protein product transcription factor E2-alpha, immunoglobulin transcription factor 1, kappa-E2-binding factor, E2A immunoglobulin enhancer-binding factor E12/E47, VDR interacting repressor 147141 NA 2308859, 1967983 Standard NM_003200 NM_003200 NA Approved E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47 uc002ltt.4 P15923 OTTHUMG00000180031 ENST00000262965.5:c.145+140C>T chr19.hg19:g.1646213G>A NA Q53R97|Q6PD70|Q9NP00 hg19 CCDS12074.1 0.02 6.161285 CTCxCTG COVERED NOVEL TCF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000449367.1 1 5.647025 KEEP 0 1 32 30 937 GG 0.999997 0.999997 0 - 7 60 241 0 0 14.769291 165 60 5115 225 ENST00000262965.5 0.040698 1 ONECUT3 390874 __UNKNOWN__ __UNKNOWN__ 19 1778788 1778788 __UNKNOWN__ 3'UTR SNP C C G rs62127661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1778788C>G ENST00000382349.4 + 0 6119 NM_001080488.1 NP_001073957.1 O60422 ONEC3_HUMAN one cut homeobox 3 NA NA endocrine pancreas development (GO:0031018) nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) NA Acute lymphoblastic leukemia(61;4.66e-11)|all_hematologic(61;4.59e-07) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ctgggcaacacagcaagaccc 0.512 NA .||| 142 0.0283546 0.0582 0.0173 5008 , , NA 13759 0.0278 NA 0.0229 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AC004755 CCDS45900.1 19p13.3 2012-03-09 2007-07-16 ENSG00000205922 390874 Homeoboxes / CUT class 13399 protein-coding gene gene with protein product 611294 one cut domain, family member 3 NA 9915796 Standard NM_001080488 NA Approved uc010xgr.2 O60422 ENST00000382349.4:c.*3344C>G chr19.hg19:g.1778788C>G NA A8MZM7 hg19 CCDS45900.1 0.02 -0.368317 ACAxAGC COVERED NOVEL ONECUT3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000418499.1 1 2.407989 KEEP 0 0 0 8 295 CC 0.99257 0.892632 0 + 5 60 171 0 0 12.834097 37 60 1348 56 ENST00000382349.4 0.119048 0.899314 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1782798 1782798 __UNKNOWN__ 3'UTR SNP A A G rs757528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1782798A>G ENST00000310127.6 - 0 4370 ATP8B3_ENST00000539485.1_3'UTR NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 NA NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGGGTGACAATGACCTCTCC 0.502 NA .||| 2120 0.423323 0.5303 0.3847 5008 , , NA 21551 0.4563 NA 0.3161 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.*229T>C chr19.hg19:g.1782798A>G NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 7.374786 ACAxTGA COVERED NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 1 7.824701 KEEP 0 0 0 26 860 AA 0.999957 0.999957 0 - 7 60 279 0 0 18.392557 173 60 6231 264 ENST00000310127.6 0.038889 1 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1789556 1789556 __UNKNOWN__ Silent SNP C C T rs12978609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1789556C>T ENST00000310127.6 - 23 2887 c.2649G>A c.(2647-2649)caG>caA p.Q883Q ATP8B3_ENST00000539485.1_Silent_p.Q893Q|ATP8B3_ENST00000525591.1_Silent_p.Q846Q NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 883 NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTGGAGTCCTGGGCTGGCG 0.706 NA .||| 1551 0.309704 0.2988 0.2882 5008 , , NA 7109 0.4395 NA 0.2515 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 C , 1059,2769 176,707,1031 7 9 9 2538,2649 -4.6 0 19 dbSNP_121 9 1989,6143 269,1451,2346 no coding-synonymous,coding-synonymous ATP8B3 NM_001178002.1,NM_138813.2 , 445,2158,3377 TT,TC,CC 24.4589,27.6646,25.4849 , 846/1264,883/1301 1789556 3048,8912 1914 4066 5980 SO:0001819 synonymous_variant AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.2649G>A chr19.hg19:g.1789556C>T NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 4.794188 GTCxTGG COVERED NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 0 12.037911 KEEP 0 0 0 40 1366 CC 1 1 0 - 7 60 221 0 0 12.42404 184 60 6551 272 ENST00000310127.6 0.036649 1 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1796166 1796166 __UNKNOWN__ Missense_Mutation SNP C C T rs8100856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1796166C>T ENST00000310127.6 - 17 2090 c.1852G>A c.(1852-1854)Gtc>Atc p.V618I ATP8B3_ENST00000539485.1_Missense_Mutation_p.V618I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V571I NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 618 NA V -> I (in dbSNP:rs8100856). binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATGATCGTGACGGTGTCCTGG 0.652 NA OREG0025127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) .||| 1334 0.266374 0.1362 0.3617 5008 , , NA 15906 0.5784 NA 0.1451 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 T ILE/VAL,ILE/VAL 553,3517 34,485,1516 48 51 50 1711,1852 3.8 1 19 dbSNP_116 50 1261,7117 104,1053,3032 yes missense,missense ATP8B3 NM_001178002.1,NM_138813.2 29,29 138,1538,4548 TT,TC,CC 15.0513,13.5872,14.5726 benign,benign 571/1264,618/1301 1796166 1814,10634 2035 4189 6224 SO:0001583 missense AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.1852G>A chr19.hg19:g.1796166C>T ENSP00000311336:p.Val618Ile 598 Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 9.198925 TGAxGGT COVERED 631 0.2889194139194139 67 0.13617886178861788 116 0.32044198895027626 328 0.5734265734265734 120 0.158311345646438 T 1.184 -0.637173 0.03557 0.135872 0.150513 ENSG00000130270 ENST00000310127;ENST00000539485;ENST00000525591 T;T;T 0.56776 0.44;0.44;0.44 4.8 3.77 0.43336 ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1); 0.182934 0.48286 N 0.000190 T 0.00012 0.0000 N 0.00966 -1.09 0.45899 P 0.0012569999999999526 B;B 0.09022 0.001;0.002 B;B 0.10450 0.0;0.005 T 0.47995 -0.9073 9 0.02654 T 1 . 8.725 0.34463 0.0:0.1598:0.0:0.8402 rs8100856;rs57162774;rs8100856 618;571 O60423;Q7Z485 AT8B3_HUMAN;. I 618;618;571 ENSP00000311336:V618I;ENSP00000443574:V618I;ENSP00000437115:V571I ENSP00000311336:V618I V - 1 0 ATP8B3 1747166 1.000000 0.71417 0.980000 0.43619 0.260000 0.26232 1.856000 0.39389 0.281000 0.22233 -0.361000 0.07541 GTC NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 0 11.435747 KEEP 0 0 0 38 1303 CC 1 1 0 - 10 60 381 0 0 24.939454 224 60 7774 336 ENST00000310127.6 0.042735 1 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1802433 1802433 __UNKNOWN__ Intron SNP T T C rs10418344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1802433T>C ENST00000310127.6 - 11 1302 ATP8B3_ENST00000539485.1_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000526092.2_Intron NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 NA NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACATCCATCTACCACGCTCC 0.557 NA c||| 1435 0.286542 0.1452 0.3746 5008 , , NA 8403 0.5804 NA 0.164 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.1063+52A>G chr19.hg19:g.1802433T>C NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 3.882378 ATCxACC COVERED NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 4 8.718559 KEEP 0 0 0 29 854 TT 0.999997 0.99997 0 - 5 60 165 0 0 10.228458 97 60 3504 149 ENST00000310127.6 0.04902 0.999973 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1809598 1809598 __UNKNOWN__ Intron SNP C C T rs9941464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1809598C>T ENST00000310127.6 - 4 641 ATP8B3_ENST00000539485.1_Intron|ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000526092.2_Intron NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 NA NA binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGTACCACGGCAGCTCCT 0.507 NA c||| 1654 0.330272 0.3343 0.3905 5008 , , NA 16087 0.4712 NA 0.2227 False NA ,,, NA NA NA 2504 0.2474 NA NA NA NA 0 C , 1171,2527 179,813,857 28 34 32 , -4.9 0 19 dbSNP_119 32 1589,6585 170,1249,2668 no intron,intron ATP8B3 NM_001178002.1,NM_138813.2 , 349,2062,3525 TT,TC,CC 19.4397,31.6658,23.248 , , 1809598 2760,9112 1849 4087 5936 SO:0001627 intron_variant AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.402+43G>A chr19.hg19:g.1809598C>T NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 8.742953 CCAxGGC COVERED NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 2 16.853592 KEEP 0 0 0 56 1914 CC 1 1 0 - 9 60 340 0 0 21.837305 219 60 7943 359 ENST00000310127.6 0.039474 1 ATP8B3 148229 __UNKNOWN__ __UNKNOWN__ 19 1811603 1811603 __UNKNOWN__ Missense_Mutation SNP C C T rs7250872 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1811603C>T ENST00000310127.6 - 2 371 c.133G>A c.(133-135)Gga>Aga p.G45R ATP8B3_ENST00000539485.1_Missense_Mutation_p.G45R|ATP8B3_ENST00000525591.1_5'UTR|ATP8B3_ENST00000526092.2_5'UTR NM_138813.3 NP_620168.1 O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 45 NA G -> R (in dbSNP:rs7250872). binding of sperm to zona pellucida (GO:0007339) acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCTCACCTCCGCGGATGCCA 0.657 NA c||| 1984 0.396166 0.5068 0.4481 5008 , , NA 14880 0.374 NA 0.3141 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 C ,ARG/GLY 1898,2254 457,984,635 53 61 58 http://www.ncbi.nlm.nih.gov/pubmed?term ,133 1.4 0 19 dbSNP_116 58 2506,5894 375,1756,2069 yes utr-5,missense ATP8B3 NM_001178002.1,NM_138813.2 ,125 832,2740,2704 TT,TC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 29.8333,45.7129,35.086 ,probably-damaging ,45/1301 1811603 4404,8148 2076 4200 6276 SO:0001583 missense AA827939 CCDS45901.1, CCDS54196.1 19p13.3 2010-04-28 2010-04-28 ENSG00000130270 ENSG00000130270 148229 ATPases / P-type 13535 protein-coding gene gene with protein product aminophospholipid translocase ATP8B3, potential phospholipid-transporting ATPase IK 605866 ATPase, Class I, type 8B, member 3, ATPase, class I, type 8B, member 3 NA 11015572 Standard NM_138813 NM_138813 NA Approved ATPIK uc002ltw.4 O60423 OTTHUMG00000166189 ENST00000310127.6:c.133G>A chr19.hg19:g.1811603C>T ENSP00000311336:p.Gly45Arg NA Q7Z485|Q8IVB8|Q8N4Y8|Q96M22 hg19 CCDS45901.1 0.02 17.831491 CTCxGCG COVERED 859 0.3933150183150183 246 0.5 149 0.4116022099447514 221 0.38636363636363635 243 0.32058047493403696 c 13.83 2.353566 0.41700 0.457129 0.298333 ENSG00000130270 ENST00000310127;ENST00000539485 T;T 0.74421 -0.84;-0.84 2.42 1.37 0.22104 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.15473 0.013 B 0.08055 0.003 T 0.40869 -0.9540 8 0.51188 T 0.08 . 5.1659 0.15084 0.0:0.8303:0.0:0.1697 rs7250872;rs12985801;rs16990936;rs58934279;rs7250872 45 O60423 AT8B3_HUMAN R 45 ENSP00000311336:G45R;ENSP00000443574:G45R ENSP00000311336:G45R G - 1 0 ATP8B3 1762603 0.000000 0.05858 0.003000 0.11579 0.004000 0.04260 -0.497000 0.06428 0.589000 0.29677 -0.258000 0.10820 GGA NOVEL ATP8B3-002 KNOWN alternative_5_UTR|basic|CCDS protein_coding NA protein_coding OTTHUMT00000388279.1 1 49.335766 KEEP 0 0 0 164 5611 CC 1 1 0 - 12 60 434 0 0 25.379753 418 60 15079 788 ENST00000310127.6 0.027907 1 REXO1 57455 __UNKNOWN__ __UNKNOWN__ 19 1819125 1819125 __UNKNOWN__ Missense_Mutation SNP T T C rs2396359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1819125T>C ENST00000170168.4 - 8 2750 c.2656A>G c.(2656-2658)Agt>Ggt p.S886G NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 886 NA S -> G (in dbSNP:rs2396359). {ECO:0000269|PubMed:15489334}. nucleus (GO:0005634) exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGGCCACTGGTTTCTGGA 0.672 NA .||| 1907 0.380791 0.5802 0.4207 5008 , , NA 12655 0.3819 NA 0.2097 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 T GLY/SER 2323,2079 630,1063,508 25 29 28 2656 1.9 0.4 19 dbSNP_100 28 1844,6748 200,1444,2652 yes missense REXO1 NM_020695.3 56 830,2507,3160 CC,CT,TT 21.4618,47.2285,32.0686 benign 886/1222 1819125 4167,8827 2201 4296 6497 SO:0001583 missense AB032964 CCDS32866.1 19p13.3 2014-05-28 2005-08-22 2005-08-22 ENSG00000079313 ENSG00000079313 57455 24616 protein-coding gene gene with protein product elongin A binding protein 1 609614 transcription elongation factor B polypeptide 3 binding protein 1 TCEB3BP1 NA 10574461 Standard NM_020695 NM_020695 NA Approved EloA-BP1, KIAA1138 uc002lua.4 Q8N1G1 OTTHUMG00000179991 ENST00000170168.4:c.2656A>G chr19.hg19:g.1819125T>C ENSP00000170168:p.Ser886Gly NA Q9ULT2 hg19 CCDS32866.1 0.02 10.18703 CACxGGT COVERED 800 0.3663003663003663 287 0.5833333333333334 135 0.3729281767955801 224 0.3916083916083916 154 0.20316622691292877 T 9.016 0.983646 0.18889 0.527715 0.214618 ENSG00000079313 ENST00000170168;ENST00000543452 T 0.13778 2.56 3.98 1.86 0.25419 . 0.272384 0.33075 U 0.005318 T 0.00012 0.0000 N 0.17082 0.46 0.37150 P 0.09788699999999995 B;B 0.22276 0.005;0.067 B;B 0.16722 0.004;0.016 T 0.35001 -0.9806 9 0.36615 T 0.2 -8.8227 6.6073 0.22731 0.0:0.1987:0.0:0.8013 rs2396359;rs11537979;rs17853032;rs2396359 195;886 B4DWY3;Q8N1G1 .;REXO1_HUMAN G 886;158 ENSP00000170168:S886G ENSP00000170168:S886G S - 1 0 REXO1 1770125 0.620000 0.27068 0.435000 0.26784 0.448000 0.32197 0.966000 0.29331 0.214000 0.20742 0.459000 0.35465 AGT NOVEL REXO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000449200.1 0 23.467689 KEEP 0 0 0 78 2436 TT 1 1 0 - 11 60 393 0 0 26.046642 190 60 6956 373 ENST00000170168.4 0.054726 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 1938506 1938506 __UNKNOWN__ IGR SNP G G A rs144513788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:1938506G>A NA NA SCAMP4 (12490 upstream) : CSNK1G2 (2681 downstream) NA NA NA agtcgggcacggtggctcacg 0.562 NA g||| 15 0.00299521 0.0083 0.0 5008 , , NA 13542 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.1938506G>A NA hg19 0.02 -0.078955 CACxGTG UNCOVERED NOVEL 0 1 2.407853 KEEP 0 0 0 8 284 GG 0.99257 0.076761 0 4 60 151 0 0 14.32355 5 60 178 22 0.444444 0.077336 MOB3A 126308 __UNKNOWN__ __UNKNOWN__ 19 2073466 2073466 __UNKNOWN__ Intron SNP T T C rs758145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2073466T>C ENST00000357066.3 - 5 1004 MOB3A_ENST00000592280.1_Intron|MOB3A_ENST00000592143.1_Intron NM_130807.2 NP_570719.1 Q96BX8 MOB3A_HUMAN MOB kinase activator 3A NA NA intracellular (GO:0005622) metal ion binding (GO:0046872) NA CAGCCACTCCTAAAAGGGGTG 0.582 NA C||| 2535 0.50619 0.671 0.3833 5008 , , NA 18252 0.4137 NA 0.4334 False NA ,,, NA NA NA 2504 0.5409 NA NA NA NA 0 C 2887,1519 474.1+/-356.9 949,989,265 45 55 51 1.8 0 19 dbSNP_86 51 3650,4950 615.8+/-396.4 794,2062,1444 no intron MOB3A NM_130807.2 1743,3051,1709 CC,CT,TT 42.4419,34.4757,49.7386 2073466 6537,6469 2203 4300 6503 SO:0001627 intron_variant AK095471 CCDS12081.1 19p13.3 2011-09-28 2011-09-28 2011-09-28 ENSG00000172081 ENSG00000172081 126308 MOB kinase activators 29802 protein-coding gene gene with protein product MOB LAK MOB1, Mps One Binder kinase activator-like 2A (yeast) MOBKL2A NA 12477932 Standard NM_130807 NM_130807 NA Approved MOB1C, MOB-LAK, moblak uc002luv.3 Q96BX8 ENST00000357066.3:c.625-43A>G chr19.hg19:g.2073466T>C NA B3KTF1|O75249|Q8TF69 hg19 CCDS12081.1 0.02 11.408094 TCCxAAA COVERED NOVEL MOB3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450893.1 7 37.308305 KEEP 0 0 0 124 3859 TT 1 1 0 - 13 60 490 0 0 31.971928 287 60 10539 564 ENST00000357066.3 0.043333 1 DOT1L 84444 __UNKNOWN__ __UNKNOWN__ 19 2232049 2232049 __UNKNOWN__ 3'UTR SNP G G A rs740404 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2232049G>A ENST00000398665.3 + 0 6908 PLEKHJ1_ENST00000587394.2_Intron NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase NA NA histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGGGTGGTGTGTGGCGGGT 0.647 NA G||| 715 0.142772 0.0877 0.1412 5008 , , NA 13899 0.2262 NA 0.0805 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF509504 CCDS42460.1 19p13.3 2013-05-21 2013-05-21 ENSG00000104885 ENSG00000104885 84444 2.1.1.43 Chromatin-modifying enzymes / K-methyltransferases 24948 protein-coding gene gene with protein product histone methyltransferase DOT1L 607375 DOT1-like, histone H3 methyltransferase (S. cerevisiae) NA 11347906, 12123582 Standard NM_032482 NM_032482 NA Approved KIAA1814, DOT1, KMT4 uc002lvb.4 Q8TEK3 OTTHUMG00000150431 ENST00000398665.3:c.*2258G>A chr19.hg19:g.2232049G>A NA O60379|Q96JL1 hg19 CCDS42460.1 0.02 6.746867 GGTxTGT COVERED NOVEL DOT1L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318066.1 3 14.144601 KEEP 0 0 0 47 1646 GG 1 1 0 + 7 60 247 0 0 15.324851 166 60 6018 279 ENST00000398665.3 0.040462 1 JSRP1 126306 __UNKNOWN__ __UNKNOWN__ 19 2254408 2254408 __UNKNOWN__ Intron SNP G G A rs3787013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2254408G>A ENST00000300961.6 - 3 212 JSRP1_ENST00000586471.2_Intron NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 NA NA protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009) membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCCAGGCGTCCTGGGTTA 0.607 NA G||| 579 0.115615 0.0719 0.098 5008 , , NA 16192 0.2431 NA 0.0209 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 G 308,4094 164.4+/-196.0 8,292,1901 37 35 36 -3.7 0 19 dbSNP_107 36 204,8394 87.6+/-150.0 4,196,4099 no intron JSRP1 NM_144616.3 12,488,6000 AA,AG,GG 2.3726,6.9968,3.9385 2254408 512,12488 2201 4299 6500 SO:0001627 intron_variant AK056978 CCDS12086.1 19p13.3 2010-03-23 ENSG00000167476 ENSG00000167476 126306 24963 protein-coding gene gene with protein product homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 608743 NA 12871958 Standard NM_144616 NM_144616 NA Approved JP-45, FLJ32416 uc002lvj.2 Q96MG2 ENST00000300961.6:c.147+35C>T chr19.hg19:g.2254408G>A NA hg19 CCDS12086.1 0.02 10.113984 GGCxTCC COVERED NOVEL JSRP1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451266.2 1 17.456261 KEEP 0 0 0 58 2023 GG 1 1 0 - 9 60 326 0 0 20.009629 245 60 8800 387 ENST00000300961.6 0.035433 1 LINGO3 645191 __UNKNOWN__ __UNKNOWN__ 19 2290870 2290870 __UNKNOWN__ Silent SNP G G C rs8111892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2290870G>C ENST00000585527.1 - 1 1153 c.906C>G c.(904-906)gcC>gcG p.A302A LINGO3_ENST00000404279.1_Silent_p.A302A P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 302 NA integral component of membrane (GO:0016021) lung(1)|urinary_tract(1) 2 GCAGGGCCCCGGCCAGGTGCA 0.687 NA G||| 1212 0.242013 0.3828 0.2781 5008 , , NA 14359 0.2421 NA 0.1183 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 G 1256,2676 198,860,908 12 15 14 906 -9 0.2 19 dbSNP_116 14 848,7400 46,756,3322 no coding-synonymous LINGO3 NM_001101391.1 244,1616,4230 CC,CG,GG 10.2813,31.943,17.2742 302/593 2290870 2104,10076 1966 4124 6090 SO:0001819 synonymous_variant AK091795 CCDS45905.1 19p13.3 2013-01-11 2007-02-01 2007-02-01 ENSG00000220008 645191 Immunoglobulin superfamily / I-set domain containing 21206 protein-coding gene gene with protein product 609792 leucine rich repeat neuronal 6B LRRN6B NA 14686891 Standard NM_001101391 NM_001101391 NA Approved LERN2 uc010dsx.1 P0C6S8 ENST00000585527.1:c.906C>G chr19.hg19:g.2290870G>C NA hg19 CCDS45905.1 0.02 15.440522 CCCxGCC COVERED NOVEL LINGO3-001 KNOWN upstream_ATG|basic|CCDS protein_coding NA protein_coding OTTHUMT00000451291.2 1 24.676905 KEEP 0 0 0 82 2799 GG 1 1 0 - 19 60 669 0 0 43.634238 343 60 11773 529 ENST00000585527.1 0.052486 1 LSM7 51690 __UNKNOWN__ __UNKNOWN__ 19 2321854 2321854 __UNKNOWN__ Intron SNP C C G rs886881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2321854C>G ENST00000252622.10 - 4 223 LSM7_ENST00000589532.1_Intron NM_016199.2 NP_057283.1 Q9UK45 LSM7_HUMAN LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) NA NA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380) cytosol (GO:0005829)|spliceosomal complex (GO:0005681) U6 snRNA binding (GO:0017070) kidney(1)|urinary_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACTGAGGGACCTCCAGGAAG 0.687 NA G||| 2795 0.558107 0.8086 0.4251 5008 , , NA 11081 0.6944 NA 0.2654 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 G 2595,1281 906,783,249 15 18 17 -1.2 0 19 dbSNP_86 17 1922,6246 249,1424,2411 no intron LSM7 NM_016199.2 1155,2207,2660 GG,GC,CC 23.5309,33.0495,37.5042 2321854 4517,7527 1938 4084 6022 SO:0001627 intron_variant AF182293 CCDS45907.1 19p13.3 2008-05-02 ENSG00000130332 ENSG00000130332 51690 20470 protein-coding gene gene with protein product 607287 NA 10523320, 12515382 Standard NM_016199 NA Approved YNL147W uc002lvp.4 Q9UK45 ENST00000252622.10:c.170-33G>C chr19.hg19:g.2321854C>G NA hg19 CCDS45907.1 0.02 4.237307 GGAxCTC COVERED NOVEL LSM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451375.2 0 11.423399 KEEP 0 0 0 38 1266 CC 1 0.999989 0 - 6 60 222 0 0 15.026803 101 60 3662 190 ENST00000252622.10 0.056075 0.999989 SPPL2B 56928 __UNKNOWN__ __UNKNOWN__ 19 2340050 2340050 __UNKNOWN__ RNA SNP C C T rs1609753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2340050C>T ENST00000452401.2 + 0 822 Q8TCT7 SPP2B_HUMAN signal peptide peptidase like 2B NA NA membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776) endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803) NA Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGGCCCCCGGCCTCACGG 0.751 NA C||| 1781 0.355631 0.1914 0.3617 5008 , , NA 11127 0.6359 NA 0.2356 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 C , 641,3325 61,519,1403 23 29 27 , -8.4 0 19 dbSNP_88 27 1599,6649 160,1279,2685 no intron,intron SPPL2B NM_001077238.1,NM_152988.2 , 221,1798,4088 TT,TC,CC 19.3865,16.1624,18.3396 , , 2340050 2240,9974 1983 4124 6107 CCDS74252.1, CCDS74253.1 19p13.3 2012-02-21 ENSG00000005206 ENSG00000005206 56928 30627 protein-coding gene gene with protein product intramembrane protease 4 608239 NA 10819331 Standard NM_020172 NM_001077238 NA Approved IMP4, PSL1, KIAA1532 uc002lvs.3 Q8TCT7 ENST00000452401.2: chr19.hg19:g.2340050C>T NA D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6 hg19 0.02 7.85065 CCCxGGC COVERED NOVEL SPPL2B-202 KNOWN basic processed_transcript NA processed_transcript 1 19.794885 KEEP 0 1 32 77 2580 CC 1 1 0 + 8 60 261 0 0 15.165182 209 60 7293 364 ENST00000452401.2 0.036866 1 LLfos-48D6.1 0 __UNKNOWN__ __UNKNOWN__ 19 2353150 2353150 __UNKNOWN__ RNA SNP C C A rs1128402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2353150C>A ENST00000609490.1 - 0 450 SPPL2B_ENST00000452401.2_RNA NA NA NA CAGCTGAATCCGAGGGCCGGG 0.706 NA C||| 1731 0.345647 0.1853 0.3631 5008 , , NA 11804 0.6538 NA 0.2346 False NA ,,, NA NA NA 2504 0.3466 NA NA NA NA 0 C , 591,3073 58,475,1299 15 20 18 ,1721 -2.5 0 19 dbSNP_86 18 1607,6535 168,1271,2632 no utr-3,coding-synonymous SPPL2B NM_001077238.1,NM_152988.2 , 226,1746,3931 AA,AC,CC 19.7372,16.1299,18.6177 , ,574/593 2353150 2198,9608 1832 4071 5903 NA NA NA NA ENST00000609490.1: chr19.hg19:g.2353150C>A NA hg19 0.02 4.740008 ATCxGAG COVERED NOVEL LLfos-48D6.1-001 KNOWN basic antisense NA antisense OTTHUMT00000473157.1 0 16.854015 KEEP 0 0 0 56 1946 CC 1 0.999998 0 - 8 60 305 0 0 21.616591 110 60 3665 227 ENST00000609490.1 0.067797 0.999998 TMPRSS9 360200 __UNKNOWN__ __UNKNOWN__ 19 2396556 2396556 __UNKNOWN__ Silent SNP C C T rs7252886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2396556C>T ENST00000332578.3 + 2 162 c.162C>T c.(160-162)ggC>ggT p.G54G TMPRSS9_ENST00000592650.1_3'UTR NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 54 NA plasminogen activation (GO:0031639) integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTACACAGGGCTTCCACGTGG 0.697 NA C||| 2157 0.430711 0.5696 0.464 5008 , , NA 15889 0.504 NA 0.2306 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C 2330,2076 614,1102,487 30 26 27 162 -3.4 0.4 19 dbSNP_116 27 2123,6477 274,1575,2451 no coding-synonymous TMPRSS9 NM_182973.1 888,2677,2938 TT,TC,CC 24.686,47.1176,34.238 54/1060 2396556 4453,8553 2203 4300 6503 SO:0001819 synonymous_variant AJ488946 CCDS12088.1 19p13.3 2010-04-13 360200 Serine peptidases / Transmembrane 30079 protein-coding gene gene with protein product polyserase 1 610477 NA 12886014 Standard NM_182973 NM_182973 NA Approved uc010xgx.2 Q7Z410 ENST00000332578.3:c.162C>T chr19.hg19:g.2396556C>T NA Q6ZND6|Q7Z411 hg19 CCDS12088.1 0.02 1.962952 GGGxTTC COVERED NOVEL TMPRSS9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451330.3 0 8.161996 KEEP 0 2 62 49 1750 CC 1 0.999919 0 + 5 60 167 0 0 10.632837 88 60 3337 197 ENST00000332578.3 0.053763 0.999919 TMPRSS9 360200 __UNKNOWN__ __UNKNOWN__ 19 2396611 2396611 __UNKNOWN__ Missense_Mutation SNP C C T rs17685098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2396611C>T ENST00000332578.3 + 2 217 c.217C>T c.(217-219)Cgg>Tgg p.R73W TMPRSS9_ENST00000592650.1_3'UTR NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 73 NA R -> W (in dbSNP:rs17685098). plasminogen activation (GO:0031639) integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCAGTTTGCGGCGGGAGAC 0.677 NA C||| 1950 0.389377 0.4206 0.4524 5008 , , NA 15343 0.504 NA 0.2286 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C TRP/ARG 1711,2693 486.2+/-360.5 314,1083,805 30 25 27 217 2.9 0.3 19 dbSNP_123 27 2118,6482 340.1+/-323.5 271,1576,2453 yes missense TMPRSS9 NM_182973.1 101 585,2659,3258 TT,TC,CC 24.6279,38.851,29.4448 possibly-damaging 73/1060 2396611 3829,9175 2202 4300 6502 SO:0001583 missense AJ488946 CCDS12088.1 19p13.3 2010-04-13 360200 Serine peptidases / Transmembrane 30079 protein-coding gene gene with protein product polyserase 1 610477 NA 12886014 Standard NM_182973 NM_182973 NA Approved uc010xgx.2 Q7Z410 ENST00000332578.3:c.217C>T chr19.hg19:g.2396611C>T ENSP00000330264:p.Arg73Trp NA Q6ZND6|Q7Z411 hg19 CCDS12088.1 0.02 1.936733 TTGxGGC COVERED 834 0.38186813186813184 204 0.4146341463414634 146 0.40331491712707185 304 0.5314685314685315 180 0.23746701846965698 C 14.50 2.553839 0.45487 0.38851 0.246279 ENSG00000178297 ENST00000395264;ENST00000332578 D 0.88277 -2.36 3.98 2.94 0.34122 . 0.554254 0.16316 N 0.219795 T 0.00012 0.0000 N 0.22421 0.69 0.40885 P 0.015978000000000048 P;D 0.69078 0.926;0.997 B;P 0.57283 0.153;0.817 T 0.33650 -0.9860 9 0.72032 D 0.01 . 10.2282 0.43238 0.0:0.8987:0.0:0.1013 rs17685098;rs52790524;rs61077488;rs17685098 73;73 Q7Z410;E7EMP4 TMPS9_HUMAN;. W 73 ENSP00000330264:R73W ENSP00000330264:R73W R + 1 2 TMPRSS9 2347611 0.578000 0.26717 0.274000 0.24659 0.016000 0.09150 1.370000 0.34238 0.795000 0.33922 0.555000 0.69702 CGG NOVEL TMPRSS9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451330.3 0 3.345527 KEEP 0 4 122 54 1808 CC 1 0.99994 0 + 4 60 146 0 0 9.290881 92 60 3205 207 ENST00000332578.3 0.041667 0.99994 TMPRSS9 360200 __UNKNOWN__ __UNKNOWN__ 19 2405456 2405456 __UNKNOWN__ Missense_Mutation SNP C C T rs117767265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2405456C>T ENST00000332578.3 + 6 653 c.653C>T c.(652-654)gCc>gTc p.A218V NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 218 Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA plasminogen activation (GO:0031639) integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGTGGCAAGCCAGCCTTCGA 0.617 NA C||| 148 0.0295527 0.028 0.0014 5008 , , NA 14540 0.0982 NA 0.002 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 C VAL/ALA 144,4262 101.6+/-140.2 0,144,2059 83 82 82 653 3.4 1 19 dbSNP_132 82 23,8577 17.3+/-56.4 0,23,4277 yes missense TMPRSS9 NM_182973.1 64 0,167,6336 TT,TC,CC 0.2674,3.2683,1.284 benign 218/1060 2405456 167,12839 2203 4300 6503 SO:0001583 missense AJ488946 CCDS12088.1 19p13.3 2010-04-13 360200 Serine peptidases / Transmembrane 30079 protein-coding gene gene with protein product polyserase 1 610477 NA 12886014 Standard NM_182973 NM_182973 NA Approved uc010xgx.2 Q7Z410 ENST00000332578.3:c.653C>T chr19.hg19:g.2405456C>T ENSP00000330264:p.Ala218Val NA Q6ZND6|Q7Z411 hg19 CCDS12088.1 0.02 12.264925 AAGxCAG COVERED 63 0.028846153846153848 17 0.034552845528455285 0 0.0 45 0.07867132867132867 1 0.0013192612137203166 C 0.889 -0.725999 0.03158 0.032683 0.002674 ENSG00000178297 ENST00000395264;ENST00000332578 T 0.55052 0.54 4.43 3.4 0.38934 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); 0.156073 0.29198 N 0.012847 T 0.00845 0.0028 N 0.00960 -1.095 0.36414 P 0.13612000000000002 B;B 0.09022 0.0;0.002 B;B 0.09377 0.004;0.003 T 0.18461 -1.0336 9 0.02654 T 1 . 8.4132 0.32655 0.0:0.0992:0.0:0.9008 . 218;252 Q7Z410;E7EMP4 TMPS9_HUMAN;. V 252;218 ENSP00000330264:A218V ENSP00000330264:A218V A + 2 0 TMPRSS9 2356456 1.000000 0.71417 1.000000 0.80357 0.308000 0.27856 2.116000 0.41930 0.680000 0.31366 -0.350000 0.07774 GCC NOVEL TMPRSS9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451330.3 2 17.155594 KEEP 0 0 0 57 2029 CC 1 1 0 + 14 60 488 0 0 30.400964 313 60 11307 455 ENST00000332578.3 0.042813 1 TMPRSS9 360200 __UNKNOWN__ __UNKNOWN__ 19 2418031 2418031 __UNKNOWN__ Silent SNP C C T rs11084939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2418031C>T ENST00000332578.3 + 12 1947 c.1947C>T c.(1945-1947)tcC>tcT p.S649S NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 649 Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}. NA plasminogen activation (GO:0031639) integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAAGGCGTCCGTGGGCATCA 0.567 NA t||| 813 0.16234 0.1778 0.0677 5008 , , NA 15323 0.3333 NA 0.0447 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 T 778,3628 315.5+/-294.2 83,612,1508 185 181 182 1947 -8.5 0 19 dbSNP_120 182 388,8212 124.6+/-183.3 4,380,3916 no coding-synonymous TMPRSS9 NM_182973.1 87,992,5424 TT,TC,CC 4.5116,17.6577,8.9651 649/1060 2418031 1166,11840 2203 4300 6503 SO:0001819 synonymous_variant AJ488946 CCDS12088.1 19p13.3 2010-04-13 360200 Serine peptidases / Transmembrane 30079 protein-coding gene gene with protein product polyserase 1 610477 NA 12886014 Standard NM_182973 NM_182973 NA Approved uc010xgx.2 Q7Z410 ENST00000332578.3:c.1947C>T chr19.hg19:g.2418031C>T NA Q6ZND6|Q7Z411 hg19 CCDS12088.1 0.02 3.72225 GTCxGTG COVERED NOVEL TMPRSS9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451330.3 1 6.617811 KEEP 0 0 0 22 750 CC 0.999879 0.999879 0 + 5 60 181 0 0 11.075699 138 60 4872 199 ENST00000332578.3 0.034965 1 LMNB2 84823 __UNKNOWN__ __UNKNOWN__ 19 2433751 2433751 __UNKNOWN__ Intron SNP C C T rs147405167 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2433751C>T ENST00000325327.3 - 8 1545 LMNB2_ENST00000582871.1_Intron Q03252 LMNB2_HUMAN lamin B2 NA NA lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637) structural molecule activity (GO:0005198) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGCAGCCCCGTCACCCTGA 0.652 NA C||| 174 0.0347444 0.0166 0.0072 5008 , , NA 14798 0.1071 NA 0.0229 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M94362 CCDS12090.1, CCDS12090.2 19p13.3 2013-01-16 ENSG00000176619 ENSG00000176619 84823 Intermediate filaments type V, lamins 6638 protein-coding gene gene with protein product 150341 LMN2 NA 1630457 Standard NM_032737 NM_032737 NA Approved uc002lvy.4 Q03252 OTTHUMG00000150626 ENST00000325327.3:c.1482+72G>A chr19.hg19:g.2433751C>T NA O75292|Q14734|Q96DF6 hg19 CCDS12090.2 0.02 6.334169 CCCxGTC COVERED NOVEL LMNB2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000319205.3 0 14.744865 KEEP 5 0 0 49 1618 CC 1 1 0 - 8 60 288 0 0 18.762961 155 60 5385 277 ENST00000325327.3 0.04908 1 LMNB2 84823 __UNKNOWN__ __UNKNOWN__ 19 2444565 2444565 __UNKNOWN__ Intron SNP C C T rs4806848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2444565C>T ENST00000325327.3 - 2 327 LMNB2_ENST00000582871.1_Intron Q03252 LMNB2_HUMAN lamin B2 NA NA lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637) structural molecule activity (GO:0005198) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGTGAAGCGAGAGGGACC 0.652 NA C||| 914 0.182508 0.2148 0.1801 5008 , , NA 17603 0.13 NA 0.1909 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 C 945,3461 356.4+/-313.5 92,761,1350 56 51 52 -5.7 0 19 dbSNP_111 52 1735,6865 314.3+/-311.7 185,1365,2750 no intron LMNB2 NM_032737.2 277,2126,4100 TT,TC,CC 20.1744,21.448,20.6059 2444565 2680,10326 2203 4300 6503 SO:0001627 intron_variant M94362 CCDS12090.1, CCDS12090.2 19p13.3 2013-01-16 ENSG00000176619 ENSG00000176619 84823 Intermediate filaments type V, lamins 6638 protein-coding gene gene with protein product 150341 LMN2 NA 1630457 Standard NM_032737 NM_032737 NA Approved uc002lvy.4 Q03252 OTTHUMG00000150626 ENST00000325327.3:c.265-27G>A chr19.hg19:g.2444565C>T NA O75292|Q14734|Q96DF6 hg19 CCDS12090.2 0.02 11.218797 AAGxGAG COVERED NOVEL LMNB2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000319205.3 2 10.234371 KEEP 0 3 97 68 2250 CC 1 1 0 - 19 60 689 0 0 47.999472 255 60 8668 421 ENST00000325327.3 0.069343 1 GNG7 2788 __UNKNOWN__ __UNKNOWN__ 19 2643439 2643439 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2643439T>C ENST00000382159.3 - 2 121 CTC-265F19.1_ENST00000587894.1_RNA NM_052847.2 NP_443079.1 O60262 GBG7_HUMAN guanine nucleotide binding protein (G protein), gamma 7 NA NA behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) central_nervous_system(2)|large_intestine(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGAGACCTCTCCGGACTCTG 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB010414 CCDS12091.1 19p13.3 2010-02-17 ENSG00000176533 ENSG00000176533 2788 4410 protein-coding gene gene with protein product 604430 NA 9600093 Standard NM_052847 NM_052847 NA Approved FLJ00058 uc002lwd.2 O60262 ENST00000382159.3:c.76+2782A>G chr19.hg19:g.2643439T>C NA B2R496 hg19 CCDS12091.1 0.02 22.730577 CTCxCCG COVERED NOVEL GNG7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451345.1 2 9.003428 KEEP 173 15 530 215 6538 TT 1 1 0 - 23 21 808 0 0 51.238647 495 60 17877 1109 ENST00000382159.3 0.044402 1 AC006538.4 0 __UNKNOWN__ __UNKNOWN__ 19 2717880 2717880 __UNKNOWN__ Intron SNP A A G rs7343093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2717880A>G ENST00000586572.1 - 3 436 DIRAS1_ENST00000585334.1_5'UTR|DIRAS1_ENST00000323469.4_Intron NA NA NA GAGCCTGTGCAGAGAGGAGGG 0.687 NA G||| 3401 0.679113 0.8918 0.572 5008 , , NA 14311 0.626 NA 0.6024 False NA ,,, NA NA NA 2504 0.6012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000586572.1:c.211-7T>C chr19.hg19:g.2717880A>G NA hg19 0.02 2.159276 TGCxGAG COVERED NOVEL AC006538.4-001 PUTATIVE mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf protein_coding NA protein_coding OTTHUMT00000451444.1 3 5.110325 KEEP 0 0 0 17 481 AA 0.999366 0.998854 0 - 4 60 158 0 0 10.74705 79 60 2938 107 ENST00000586572.1 0.048193 0.999487 SGTA 6449 __UNKNOWN__ __UNKNOWN__ 19 2755339 2755339 __UNKNOWN__ 3'UTR SNP G G A rs2238614 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2755339G>A ENST00000221566.2 - 0 1702 NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha NA NA viral process (GO:0016032) cytoplasm (GO:0005737) endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCTGAGCCGCGGAGGCGTG 0.592 NA G||| 1390 0.277556 0.1672 0.2205 5008 , , NA 16767 0.5198 NA 0.2078 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ223828 CCDS12094.1 19p13 2013-01-10 2003-11-24 2003-11-26 ENSG00000104969 6449 Tetratricopeptide (TTC) repeat domain containing 10819 protein-coding gene gene with protein product 603419 small glutamine-rich tetratricopeptide repeat (TPR)-containing SGT NA 9740675, 12735788 Standard NM_003021 NM_003021 NA Approved uc002lwi.1 O43765 ENST00000221566.2:c.*599C>T chr19.hg19:g.2755339G>A NA D6W610|Q6FIA9|Q9BTZ9 hg19 CCDS12094.1 0.02 6.354998 GCCxCGG COVERED NOVEL SGTA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451448.2 1 19.517438 KEEP 0 0 0 65 2266 GG 1 1 0 - 9 60 328 0 0 21.763563 163 60 5744 316 ENST00000221566.2 0.052326 1 SGTA 6449 __UNKNOWN__ __UNKNOWN__ 19 2765328 2765328 __UNKNOWN__ Intron SNP G G C rs2302494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2765328G>C ENST00000221566.2 - 5 454 NM_003021.3 NP_003012.1 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha NA NA viral process (GO:0016032) cytoplasm (GO:0005737) endometrium(2)|large_intestine(2)|lung(2)|ovary(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACACAGACCGGAGGGGGTGT 0.572 NA C||| 1704 0.340256 0.388 0.232 5008 , , NA 12584 0.5179 NA 0.2147 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 C 1446,2948 236,974,987 40 32 35 -1.2 0 19 dbSNP_100 35 1858,6740 205,1448,2646 no intron SGTA NM_003021.3 441,2422,3633 CC,CG,GG 21.6097,32.9085,25.431 2765328 3304,9688 2197 4299 6496 SO:0001627 intron_variant AJ223828 CCDS12094.1 19p13 2013-01-10 2003-11-24 2003-11-26 ENSG00000104969 6449 Tetratricopeptide (TTC) repeat domain containing 10819 protein-coding gene gene with protein product 603419 small glutamine-rich tetratricopeptide repeat (TPR)-containing SGT NA 9740675, 12735788 Standard NM_003021 NM_003021 NA Approved uc002lwi.1 O43765 ENST00000221566.2:c.293-45C>G chr19.hg19:g.2765328G>C NA D6W610|Q6FIA9|Q9BTZ9 hg19 CCDS12094.1 0.02 1.935555 ACCxGAG COVERED NOVEL SGTA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451448.2 0 6.319071 KEEP 0 0 0 21 697 GG 0.999869 0.991964 0 - 5 60 162 0 0 11.006264 58 60 2116 89 ENST00000221566.2 0.079365 0.992094 TLE6 79816 __UNKNOWN__ __UNKNOWN__ 19 2979979 2979979 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2979979G>A ENST00000246112.4 + 3 252 TLE6_ENST00000452088.1_Intron|TLE6_ENST00000482627.1_Intron NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 NA NA regulation of transcription, DNA-templated (GO:0006355) cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) aaaaaaaaaagcaaaaaCCAC 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024071 CCDS12100.1, CCDS45910.1 19p13.3 2014-03-07 2014-03-07 ENSG00000104953 ENSG00000104953 79816 WD repeat domain containing 30788 protein-coding gene gene with protein product 612399 transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) NA 11486032 Standard NM_024760 NM_024760 NA Approved FLJ14009, GRG6 uc002lwt.2 Q9H808 OTTHUMG00000156793 ENST00000246112.4:c.52-119G>A chr19.hg19:g.2979979G>A NA J3KMZ1 hg19 CCDS45910.1 0.02 -0.390528 AAAxCAA COVERED NOVEL TLE6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000345996.3 7 5.008576 KEEP 0 2 24 26 761 GG 0.999997 0.934489 0 + 6 60 133 0 0 8.896972 36 60 902 89 ENST00000246112.4 0.142857 0.934492 TLE6 79816 __UNKNOWN__ __UNKNOWN__ 19 2993943 2993943 __UNKNOWN__ Intron SNP T T G rs374384963|rs370964417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:2993943T>G ENST00000246112.4 + 16 1738 TLE6_ENST00000452088.1_Intron NM_001143986.1 NP_001137458.1 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 NA NA regulation of transcription, DNA-templated (GO:0006355) cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) aaaaaaaaGGTGGGTGGGGAG 0.493 NA T||| 4082 0.815096 0.6483 0.8804 5008 , , NA 12428 0.9742 NA 0.8459 False NA ,,, NA NA NA 2504 0.7986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024071 CCDS12100.1, CCDS45910.1 19p13.3 2014-03-07 2014-03-07 ENSG00000104953 ENSG00000104953 79816 WD repeat domain containing 30788 protein-coding gene gene with protein product 612399 transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) NA 11486032 Standard NM_024760 NM_024760 NA Approved FLJ14009, GRG6 uc002lwt.2 Q9H808 OTTHUMG00000156793 ENST00000246112.4:c.1538-74T>G chr19.hg19:g.2993943T>G NA J3KMZ1 hg19 CCDS45910.1 0.02 -0.260312 AGGxGGG COVERED NOVEL TLE6-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000345996.3 5 3.544171 KEEP 1 2 11 16 497 TT 0.999366 0.693229 0 + 7 60 149 0 1 11.29424 22 60 696 80 ENST00000246112.4 0.241379 0.693668 TBXA2R 6915 __UNKNOWN__ __UNKNOWN__ 19 3595923 3595923 __UNKNOWN__ Silent SNP G G A rs1131882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3595923G>A ENST00000375190.4 - 3 1188 c.795C>T c.(793-795)atC>atT p.I265I TBXA2R_ENST00000589966.1_Missense_Mutation_p.R136C|TBXA2R_ENST00000411851.3_Silent_p.I265I NM_001060.5|NM_201636.2 NP_001051.1|NP_963998.2 P21731 TA2R_HUMAN thromboxane A2 receptor 265 NA blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193) acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961) p.I265I(1) kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CTGTCTGGGCGATGAAGACCT 0.697 NA G||| 1175 0.234625 0.0401 0.2795 5008 , , NA 8200 0.5883 NA 0.1471 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) GRCh37 CM022851 TBXA2R M rs1131882 G , 226,3866 3,220,1823 11 12 12 795,795 -0.8 0.8 19 dbSNP_86 12 1276,7068 105,1066,3001 no coding-synonymous,coding-synonymous TBXA2R NM_001060.5,NM_201636.2 , 108,1286,4824 AA,AG,GG 15.2924,5.523,12.0778 , 265/344,265/408 3595923 1502,10934 2046 4172 6218 SO:0001819 synonymous_variant CCDS42467.1, CCDS54198.1 19p13.3 2014-09-17 6915 GPCR / Class A : Prostanoid receptors 11608 protein-coding gene gene with protein product 188070 NA 1825698 Standard NM_001060 NA Approved uc021umv.1 P21731 ENST00000375190.4:c.795C>T chr19.hg19:g.3595923G>A NA O75228|Q6DK52|Q9UCY1|Q9UCY2 hg19 CCDS42467.1 0.02 1.860468 GGCxATG COVERED NOVEL TBXA2R-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453081.2 0 6.018841 KEEP 0 0 0 20 656 GG 0.999863 0.99935 0 - 6 60 218 0 0 15.345547 76 60 2697 119 ENST00000375190.4 0.073171 0.999487 CACTIN 58509 __UNKNOWN__ __UNKNOWN__ 19 3612819 3612819 __UNKNOWN__ Intron SNP G G A rs62130601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3612819G>A ENST00000429344.2 - 9 1839 CACTIN_ENST00000248420.5_Intron|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Intron NM_001080543.1 NP_001074012.1 Q8WUQ7 CATIN_HUMAN cactin, spliceosome C complex subunit NA NA cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NA GACAGCGGCCGGTAAAAGCTT 0.627 NA G||| 659 0.131589 0.0779 0.0821 5008 , , NA 11072 0.3244 NA 0.0895 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC019848 CCDS45920.1 19p13.3 2012-06-08 2012-06-08 2012-06-08 ENSG00000105298 ENSG00000105298 58509 29938 protein-coding gene gene with protein product NY REN 24 antigen, functional spliceosome-associated protein c, cactin homolog (Drosophila) chromosome 19 open reading frame 29 C19orf29 NA 8619474, 9110174, 21429463, 20829348 Standard NM_001080543 NA Approved NY-REN-24, fSAPc, cactin uc002lyh.3 Q8WUQ7 ENST00000429344.2:c.1786+236C>T chr19.hg19:g.3612819G>A NA A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4 hg19 CCDS45920.1 0.02 16.191069 GCCxGTA COVERED NOVEL CACTIN-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000457370.2 0 34.691085 KEEP 0 2 41 130 4424 GG 1 1 0 - 13 60 481 0 0 30.089246 343 60 12299 671 ENST00000429344.2 0.036517 1 CACTIN 58509 __UNKNOWN__ __UNKNOWN__ 19 3613346 3613346 __UNKNOWN__ Missense_Mutation SNP G G A rs2074789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3613346G>A ENST00000429344.2 - 9 1548 c.1496C>T c.(1495-1497)gCg>gTg p.A499V CACTIN_ENST00000248420.5_Missense_Mutation_p.A499V|CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000221899.3_Missense_Mutation_p.A431V NM_001080543.1 NP_001074012.1 Q8WUQ7 CATIN_HUMAN cactin, spliceosome C complex subunit 499 NA A -> V (in Ref. 4; AAH19848). {ECO:0000305}. cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) NA GGTGGGCGCCGCGTCCTCAGG 0.781 NA G||| 2156 0.430511 0.3018 0.6037 5008 , , NA 8769 0.3294 NA 0.5795 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 G VAL/ALA,VAL/ALA 1466,1576 408,650,463 4 5 5 1496,1496 -5.6 0 19 dbSNP_96 5 4326,2414 1492,1342,536 yes missense,missense C19orf29 NM_001080543.1,NM_021231.1 64,64 1900,1992,999 AA,AG,GG 35.816,48.192,40.7892 benign,benign 499/759,499/759 3613346 5792,3990 1521 3370 4891 SO:0001583 missense BC019848 CCDS45920.1 19p13.3 2012-06-08 2012-06-08 2012-06-08 ENSG00000105298 ENSG00000105298 58509 29938 protein-coding gene gene with protein product NY REN 24 antigen, functional spliceosome-associated protein c, cactin homolog (Drosophila) chromosome 19 open reading frame 29 C19orf29 NA 8619474, 9110174, 21429463, 20829348 Standard NM_001080543 NA Approved NY-REN-24, fSAPc, cactin uc002lyh.3 Q8WUQ7 ENST00000429344.2:c.1496C>T chr19.hg19:g.3613346G>A ENSP00000415078:p.Ala499Val NA A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4 hg19 CCDS45920.1 0.02 3.944794 GCCxCGT COVERED 1016|1016 0.4652014652014652|0.4652014652014652 166|166 0.33739837398373984|0.33739837398373984 219|219 0.6049723756906077|0.6049723756906077 189|189 0.3304195804195804|0.3304195804195804 442|442 0.58311345646438|0.58311345646438 G|G 10.30|10.30 1.311266|1.311266 0.23821|0.23821 0.48192|0.48192 0.64184|0.64184 ENSG00000105298|ENSG00000226800 ENST00000429344;ENST00000248420;ENST00000221899|ENST00000447295 .|. .|. .|. 3.38|3.38 -5.6|-5.6 0.02497|0.02497 .|. 2.059910|. 0.01925|. N|. 0.040837|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.80722|0.80722 P|P 0.0|0.0 B;B|. 0.26602|. 0.116;0.154|. B;B|. 0.18561|. 0.022;0.004|. T|T 0.46952|0.46952 -0.9154|-0.9154 8|4 0.30078|. T|. 0.28|. .|. 0.7428|0.7428 0.00977|0.00977 0.2199:0.145:0.1962:0.4388|0.2199:0.145:0.1962:0.4388 rs2074789;rs11557007|rs2074789;rs11557007 499;499|. Q8WUQ7-2;Q8WUQ7|. .;CS029_HUMAN|. V|H 499;499;431|325 .|. ENSP00000221899:A431V|. A|R -|+ 2|2 0|0 C19orf29|C19orf29OS 3564346|3564346 0.000000|0.000000 0.05858|0.05858 0.001000|0.001000 0.08648|0.08648 0.007000|0.007000 0.05969|0.05969 -1.122000|-1.122000 0.03267|0.03267 -0.535000|-0.535000 0.06307|0.06307 -0.258000|-0.258000 0.10820|0.10820 GCG|CGC NOVEL CACTIN-007 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000457370.2 0 14.721067 KEEP 0 0 0 49 1679 GG 1 1 0 - 5 60 178 0 0 11.003966 124 60 4339 209 ENST00000429344.2 0.03876 1 PIP5K1C 23396 __UNKNOWN__ __UNKNOWN__ 19 3653525 3653525 __UNKNOWN__ Silent SNP C C T rs2074957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3653525C>T ENST00000589578.1 - 7 683 c.684G>A c.(682-684)tcG>tcA p.S228S PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.S228S|PIP5K1C_ENST00000537021.1_Silent_p.S228S|PIP5K1C_ENST00000335312.3_Silent_p.S228S O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 228 PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}. NA actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931) 1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TCTTGCCCCCCGACTGCACGC 0.627 NA C||| 2719 0.542931 0.4463 0.6513 5008 , , NA 17959 0.6865 NA 0.5636 False NA ,,, NA NA NA 2504 0.4274 NA NA NA Esophageal Squamous(135;99 1744 12852 27186 39851) NA 0 C , 2030,2376 562.1+/-380.9 462,1106,635 117 90 99 684,684 -8.1 0.9 19 dbSNP_96 99 4856,3744 616.2+/-396.5 1373,2110,817 no coding-synonymous,coding-synonymous PIP5K1C NM_001195733.1,NM_012398.2 , 1835,3216,1452 TT,TC,CC 43.5349,46.0735,47.0552 , 228/641,228/669 3653525 6886,6120 2203 4300 6503 SO:0001819 synonymous_variant AB011161 CCDS32872.1, CCDS56074.1, CCDS74257.1 19p13.3 2012-10-02 ENSG00000186111 ENSG00000186111 23396 8996 protein-coding gene gene with protein product 606102 NA 9535851 Standard NM_012398 NM_001195733 NA Approved PIP5Kgamma, KIAA0589, LCCS3 uc002lyj.2 O60331 OTTHUMG00000180870 ENST00000589578.1:c.684G>A chr19.hg19:g.3653525C>T NA B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07 hg19 0.02 9.101381 CCCxGAC COVERED NOVEL PIP5K1C-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000453628.1 0 12.308263 KEEP 0 2 63 63 2138 CC 1 1 0 - 7 60 266 1 0 16.646297 201 60 6868 345 ENST00000589578.1 0.033654 1 PIP5K1C 23396 __UNKNOWN__ __UNKNOWN__ 19 3660944 3660944 __UNKNOWN__ Intron SNP G G A rs3826944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3660944G>A ENST00000589578.1 - 5 468 PIP5K1C_ENST00000587482.1_Intron|PIP5K1C_ENST00000539785.1_Intron|PIP5K1C_ENST00000537021.1_Intron|PIP5K1C_ENST00000335312.3_Intron O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma NA NA actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079) cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931) 1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) cTGGAAGCCCGTAACAGCAAA 0.552 NA g||| 2797 0.558506 0.5 0.6542 5008 , , NA 21060 0.6974 NA 0.5606 False NA ,,, NA NA NA 2504 0.4243 NA NA NA Esophageal Squamous(135;99 1744 12852 27186 39851) NA 0 A , 2170,2236 583.9+/-385.9 529,1112,562 92 94 93 , -2.2 0 19 dbSNP_107 93 4856,3744 616.6+/-396.5 1373,2110,817 no intron,intron PIP5K1C NM_001195733.1,NM_012398.2 , 1902,3222,1379 AA,AG,GG 43.5349,49.251,45.9788 , , 3660944 7026,5980 2203 4300 6503 SO:0001627 intron_variant AB011161 CCDS32872.1, CCDS56074.1, CCDS74257.1 19p13.3 2012-10-02 ENSG00000186111 ENSG00000186111 23396 8996 protein-coding gene gene with protein product 606102 NA 9535851 Standard NM_012398 NM_001195733 NA Approved PIP5Kgamma, KIAA0589, LCCS3 uc002lyj.2 O60331 OTTHUMG00000180870 ENST00000589578.1:c.468+19C>T chr19.hg19:g.3660944G>A NA B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07 hg19 0.02 9.302941 CCCxTAA COVERED NOVEL PIP5K1C-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000453628.1 2 20.052472 KEEP 0 3 95 100 3412 GG 1 1 0 - 8 60 312 0 0 20.064444 214 60 7411 418 ENST00000589578.1 0.036036 1 ZFR2 23217 __UNKNOWN__ __UNKNOWN__ 19 3820191 3820191 __UNKNOWN__ Missense_Mutation SNP C C T rs2301843 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3820191C>T ENST00000262961.4 - 11 1739 c.1729G>A c.(1729-1731)Gcc>Acc p.A577T NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 577 DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}. NA A -> T (in dbSNP:rs2301843). nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TGGAGTGGGGCGCTGGCGGGT 0.726 NA C||| 1905 0.380391 0.41 0.4135 5008 , , NA 15166 0.4296 NA 0.4225 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 C THR/ALA 1531,2657 311,909,874 12 16 15 1729 -3.1 0 19 dbSNP_100 15 2987,5193 660,1667,1763 yes missense ZFR2 NM_015174.1 58 971,2576,2637 TT,TC,CC 36.5159,36.5568,36.5298 possibly-damaging 577/940 3820191 4518,7850 2094 4090 6184 SO:0001583 missense AB029009 CCDS45921.1, CCDS45922.1 19p13.3 2012-10-05 2008-03-25 2008-03-25 ENSG00000105278 ENSG00000105278 23217 29189 protein-coding gene gene with protein product KIAA1086 KIAA1086 NA 10470851 Standard NM_015174 NM_015174 NA Approved uc002lyw.2 Q9UPR6 OTTHUMG00000180918 ENST00000262961.4:c.1729G>A chr19.hg19:g.3820191C>T ENSP00000262961:p.Ala577Thr NA hg19 CCDS45921.1 0.02 8.401374 GGGxGCT COVERED 916 0.4194139194139194 213 0.4329268292682927 152 0.4198895027624309 240 0.4195804195804196 311 0.4102902374670185 C 2.938 -0.219507 0.06061 0.365568 0.365159 ENSG00000105278 ENST00000262961 T 0.06608 3.28 2.52 -3.12 0.05282 . 0.667620 0.13499 N 0.383395 T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B 0.10296 0.003 B 0.04013 0.001 T 0.39482 -0.9612 9 0.20046 T 0.44 0.3025 3.8591 0.08988 0.0:0.2789:0.3157:0.4054 rs2301843;rs52795129;rs57356575;rs2301843 577 Q9UPR6 ZFR2_HUMAN T 577 ENSP00000262961:A577T ENSP00000262961:A577T A - 1 0 ZFR2 3771191 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.761000 0.01805 -0.336000 0.08438 -0.327000 0.08410 GCC NOVEL ZFR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453648.2 1 13.47443 KEEP 0 1 20 52 1786 CC 1 1 0 - 8 60 279 0 0 16.951985 203 60 7244 352 ENST00000262961.4 0.037915 1 ZFR2 23217 __UNKNOWN__ __UNKNOWN__ 19 3823192 3823192 __UNKNOWN__ Intron SNP T T C rs34503630 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3823192T>C ENST00000262961.4 - 8 1382 NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 NA NA nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCCTGATCCATGGGAAGGTCC 0.622 NA T||| 951 0.189896 0.0121 0.3357 5008 , , NA 16029 0.2679 NA 0.332 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB029009 CCDS45921.1, CCDS45922.1 19p13.3 2012-10-05 2008-03-25 2008-03-25 ENSG00000105278 ENSG00000105278 23217 29189 protein-coding gene gene with protein product KIAA1086 KIAA1086 NA 10470851 Standard NM_015174 NM_015174 NA Approved uc002lyw.2 Q9UPR6 OTTHUMG00000180918 ENST00000262961.4:c.1371+51A>G chr19.hg19:g.3823192T>C NA hg19 CCDS45921.1 0.02 14.267179 CCAxGGG COVERED NOVEL ZFR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453648.2 2 11.432481 KEEP 0 0 0 38 1140 TT 1 1 0 - 19 60 698 0 0 48.037812 284 60 10385 398 ENST00000262961.4 0.062706 1 ZFR2 23217 __UNKNOWN__ __UNKNOWN__ 19 3823237 3823237 __UNKNOWN__ Intron SNP G G A rs2240231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3823237G>A ENST00000262961.4 - 8 1382 NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 NA NA nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) TGACAGCCTCGACTTACCTCC 0.622 NA G||| 1855 0.370407 0.4032 0.415 5008 , , NA 15896 0.4117 NA 0.4175 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 G 1589,2339 310,969,685 87 94 92 -4.1 0 19 dbSNP_98 92 3243,5041 653,1937,1552 no intron ZFR2 NM_015174.1 963,2906,2237 AA,AG,GG 39.1478,40.4532,39.5676 3823237 4832,7380 1964 4142 6106 SO:0001627 intron_variant AB029009 CCDS45921.1, CCDS45922.1 19p13.3 2012-10-05 2008-03-25 2008-03-25 ENSG00000105278 ENSG00000105278 23217 29189 protein-coding gene gene with protein product KIAA1086 KIAA1086 NA 10470851 Standard NM_015174 NM_015174 NA Approved uc002lyw.2 Q9UPR6 OTTHUMG00000180918 ENST00000262961.4:c.1371+6C>T chr19.hg19:g.3823237G>A NA hg19 CCDS45921.1 0.02 20.317066 CTCxACT COVERED NOVEL ZFR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453648.2 0 10.501659 KEEP 0 2 60 56 1921 GG 1 1 0 - 25 60 904 0 0 60.388338 427 60 14873 647 ENST00000262961.4 0.05531 1 ZFR2 23217 __UNKNOWN__ __UNKNOWN__ 19 3831449 3831449 __UNKNOWN__ Missense_Mutation SNP G G A rs2240232 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3831449G>A ENST00000262961.4 - 5 714 c.704C>T c.(703-705)cCg>cTg p.P235L NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 235 Pro-rich. NA P -> L (in dbSNP:rs2240232). nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CGCGGGCGGCGGGGGCAGCTG 0.721 NA G||| 1828 0.365016 0.379 0.415 5008 , , NA 9687 0.4206 NA 0.4195 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G LEU/PRO 1149,1951 261,627,662 2 3 3 704 -4.7 0 19 dbSNP_98 3 2587,4283 630,1327,1478 no missense ZFR2 NM_015174.1 98 891,1954,2140 AA,AG,GG 37.6565,37.0645,37.4724 possibly-damaging 235/940 3831449 3736,6234 1550 3435 4985 SO:0001583 missense AB029009 CCDS45921.1, CCDS45922.1 19p13.3 2012-10-05 2008-03-25 2008-03-25 ENSG00000105278 ENSG00000105278 23217 29189 protein-coding gene gene with protein product KIAA1086 KIAA1086 NA 10470851 Standard NM_015174 NM_015174 NA Approved uc002lyw.2 Q9UPR6 OTTHUMG00000180918 ENST00000262961.4:c.704C>T chr19.hg19:g.3831449G>A ENSP00000262961:p.Pro235Leu NA hg19 CCDS45921.1 0.02 2.056271 GGCxGGG COVERED 891 0.40796703296703296 196 0.3983739837398374 154 0.425414364640884 235 0.41083916083916083 306 0.40369393139841686 G 10.12 1.263776 0.23136 0.370645 0.376565 ENSG00000105278 ENST00000262961;ENST00000438164 T;T 0.14391 3.27;2.51 3.52 -4.74 0.03249 . 7739.210000 0.00622 N 0.000447 T 0.00012 0.0000 L 0.36672 1.1 0.80722 P 0.0 B 0.13145 0.007 B 0.04013 0.001 T 0.46555 -0.9183 9 0.46703 T 0.11 . 4.7462 0.13038 0.4325:0.0:0.4172:0.1503 rs2240232 235 Q9UPR6 ZFR2_HUMAN L 235 ENSP00000262961:P235L;ENSP00000388974:P235L ENSP00000262961:P235L P - 2 0 ZFR2 3782449 0.333000 0.24731 0.000000 0.03702 0.034000 0.12701 -0.145000 0.10265 -1.004000 0.03421 0.555000 0.69702 CCG NOVEL ZFR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453648.2 0 4.213142 KEEP 0 0 0 14 481 GG 0.995343 0.992908 0 - 5 60 178 1 0 12.334041 66 60 2186 97 ENST00000262961.4 0.070423 0.997553 ZFR2 23217 __UNKNOWN__ __UNKNOWN__ 19 3831525 3831525 __UNKNOWN__ Missense_Mutation SNP C C A rs2240233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:3831525C>A ENST00000262961.4 - 5 638 c.628G>T c.(628-630)Gtg>Ttg p.V210L ZFR2_ENST00000591965.1_5'UTR NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 210 Pro-rich. NA V -> L (in dbSNP:rs2240233). nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GCGGAGTACACCGACGCGTCA 0.667 NA c||| 1840 0.367412 0.3873 0.4135 5008 , , NA 11656 0.4157 NA 0.4195 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 LEU/VAL 1529,2409 323,883,763 15 16 16 628 -3 0 19 dbSNP_98 16 3125,4999 701,1723,1638 yes missense ZFR2 NM_015174.1 32 1024,2606,2401 AA,AC,CC 38.4663,38.8268,38.584 possibly-damaging 210/940 3831525 4654,7408 1969 4062 6031 SO:0001583 missense AB029009 CCDS45921.1, CCDS45922.1 19p13.3 2012-10-05 2008-03-25 2008-03-25 ENSG00000105278 ENSG00000105278 23217 29189 protein-coding gene gene with protein product KIAA1086 KIAA1086 NA 10470851 Standard NM_015174 NM_015174 NA Approved uc002lyw.2 Q9UPR6 OTTHUMG00000180918 ENST00000262961.4:c.628G>T chr19.hg19:g.3831525C>A ENSP00000262961:p.Val210Leu NA hg19 CCDS45921.1 0.02 3.6939 ACAxCGA COVERED 896 0.41025641025641024 197 0.40040650406504064 153 0.42265193370165743 236 0.4125874125874126 310 0.40897097625329815 c 7.818 0.717232 0.15372 0.388268 0.384663 ENSG00000105278 ENST00000262961;ENST00000438164 T;T 0.15139 3.25;2.45 3.73 -3.0 0.05480 . 0.549745 0.16161 U 0.226771 T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 B 0.12630 0.006 B 0.08055 0.003 T 0.47129 -0.9141 9 0.16896 T 0.51 -0.9087 3.0894 0.06289 0.4313:0.3375:0.1406:0.0906 rs2240233;rs52836066;rs58121018;rs2240233 210 Q9UPR6 ZFR2_HUMAN L 210 ENSP00000262961:V210L;ENSP00000388974:V210L ENSP00000262961:V210L V - 1 0 ZFR2 3782525 0.000000 0.05858 0.000000 0.03702 0.012000 0.07955 0.345000 0.19979 -0.734000 0.04843 0.550000 0.68814 GTG NOVEL ZFR2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453648.2 0 5.718178 KEEP 0 0 0 19 656 CC 0.99986 0.99986 0 - 11 60 360 0 0 24.715063 124 60 4433 192 ENST00000262961.4 0.081481 1 SHD 56961 __UNKNOWN__ __UNKNOWN__ 19 4280186 4280186 __UNKNOWN__ Silent SNP C C T rs10419363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:4280186C>T ENST00000543264.2 + 1 1589 c.126C>T c.(124-126)ttC>ttT p.F42F SHD_ENST00000599689.1_Silent_p.F42F NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 42 NA breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGGACTTCGAGGACCCCT 0.677 NA C||| 1627 0.32488 0.2821 0.2565 5008 , , NA 12837 0.4038 NA 0.3549 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 C 1316,3088 397.4+/-330.4 194,928,1080 25 30 28 126 -3 1 19 dbSNP_119 28 2929,5669 429.2+/-356.1 500,1929,1870 no coding-synonymous SHD NM_020209.3 694,2857,2950 TT,TC,CC 34.0661,29.8819,32.6488 42/341 4280186 4245,8757 2202 4299 6501 SO:0001819 synonymous_variant BC007206 CCDS12125.1 19p13.3 2013-02-14 ENSG00000105251 56961 SH2 domain containing 30633 protein-coding gene gene with protein product 610481 NA 9315092 Standard NM_020209 NM_020209 NA Approved uc002lzw.2 Q96IW2 ENST00000543264.2:c.126C>T chr19.hg19:g.4280186C>T NA Q96NC2 hg19 CCDS12125.1 0.02 10.942176 CTTxGAG COVERED NOVEL SHD-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458082.1 2 24.077833 KEEP 0 0 0 80 2784 CC 1 1 0 + 13 60 461 0 0 29.161272 283 60 10147 501 ENST00000543264.2 0.043919 1 SH3GL1 6455 __UNKNOWN__ __UNKNOWN__ 19 4362691 4362691 __UNKNOWN__ Silent SNP G G C rs243261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:4362691G>C ENST00000269886.3 - 8 949 c.771C>G c.(769-771)ccC>ccG p.P257P SH3GL1_ENST00000598564.1_Silent_p.P193P|SH3GL1_ENST00000417295.2_Silent_p.P209P NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 257 NA central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165) cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020) identical protein binding (GO:0042802)|lipid binding (GO:0008289) NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCCGGGGCTTGGGCTTATACT 0.652 NA T MLL AL G||| 1961 0.391573 0.3434 0.4063 5008 , , NA 17905 0.6042 NA 0.2744 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NSCLC(94;1152 2133 30346 33362) Dom yes 19 19p13.3 6455 SH3-domain GRB2-like 1 (EEN) L 0 G ,, 1506,2900 270,966,967 58 56 57 627,579,771 -0.3 1 19 dbSNP_79 57 2423,6177 333,1757,2210 no coding-synonymous,coding-synonymous,coding-synonymous SH3GL1 NM_001199943.1,NM_001199944.1,NM_003025.3 ,, 603,2723,3177 CC,CG,GG 28.1744,34.1807,30.2091 ,, 209/321,193/305,257/369 4362691 3929,9077 2203 4300 6503 SO:0001819 synonymous_variant CCDS32874.1, CCDS56076.1, CCDS59335.1 19p13.3 2008-07-22 6455 10830 protein-coding gene gene with protein product extra 11-19 leukemia fusion, fusion partner of MLL, SH3-containing Grb-2-like 1 protein, SH3-containing protein EEN, SH3 domain GRB2-like 1 601768 NA 9169142 Standard NM_003025 NM_003025 NA Approved SH3P8, SH3D2B, CNSA1, EEN, MGC111371 uc002maj.3 Q99961 ENST00000269886.3:c.771C>G chr19.hg19:g.4362691G>C NA B4DRA1|E7EVZ4|M0QZV5|Q99668 hg19 CCDS32874.1 0.02 1.980473 CTTxGGC COVERED NOVEL SH3GL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458302.1 2 13.544267 KEEP 0 0 0 45 1612 GG 1 0.999881 0 - 4 60 146 0 0 9.365789 88 60 3305 178 ENST00000269886.3 0.043478 0.999881 UBXN6 80700 __UNKNOWN__ __UNKNOWN__ 19 4454000 4454000 __UNKNOWN__ Silent SNP G G A rs11909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:4454000G>A ENST00000301281.6 - 2 298 c.174C>T c.(172-174)gcC>gcT p.A58A UBXN6_ENST00000394765.3_Silent_p.A5A NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 58 NA cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 GGGCTAGGGCGGCAGCGGCTG 0.682 NA G||| 1563 0.312101 0.2595 0.2205 5008 , , NA 14553 0.2867 NA 0.4115 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 G , 1279,3127 422.5+/-339.8 196,887,1120 67 83 78 15,174 -8.5 0.2 19 dbSNP_52 78 3475,5123 493.1+/-373.5 709,2057,1533 no coding-synonymous,coding-synonymous UBXN6 NM_001171091.1,NM_025241.2 , 905,2944,2653 AA,AG,GG 40.4164,29.0286,36.558 , 5/389,58/442 4454000 4754,8250 2203 4299 6502 SO:0001819 synonymous_variant AF272893 CCDS12129.1, CCDS54201.1 19p13 2008-07-25 2008-07-25 2008-07-25 ENSG00000167671 80700 UBX domain containing 14928 protein-coding gene gene with protein product 611946 UBX domain-containing 1, UBX domain containing 1 UBXD1 NA 11342112 Standard NM_025241 NM_025241 NA Approved UBXDC2 uc002man.2 Q9BZV1 ENST00000301281.6:c.174C>T chr19.hg19:g.4454000G>A NA D6W626|Q96AH1|Q96IK9|Q9BZV0 hg19 CCDS12129.1 0.02 4.107133 GGCxGCA COVERED NOVEL UBXN6-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458447.3 3 17.194776 KEEP 0 4 128 102 3550 GG 1 0.999999 0 - 6 60 199 0 0 12.395519 116 60 4004 304 ENST00000301281.6 0.04918 0.999999 SEMA6B 10501 __UNKNOWN__ __UNKNOWN__ 19 4550383 4550383 __UNKNOWN__ Intron SNP G G T rs28667487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:4550383G>T ENST00000586582.1 - 12 1432 SEMA6B_ENST00000586965.1_Intron|SEMA6B_ENST00000301293.3_Intron NM_032108.3 NP_115484.2 Q9H3T3 SEM6B_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B NA NA cell differentiation (GO:0030154)|nervous system development (GO:0007399) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CGACCCTCAGGttttttgttt 0.522 NA T||| 1557 0.310903 0.6884 0.2104 5008 , , NA 19320 0.1329 NA 0.2306 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB022433 CCDS12131.1 19p13.3 2008-07-22 ENSG00000167680 10501 Semaphorins 10739 protein-coding gene gene with protein product Sema VIb, semaphorin Z, semaphorin VIB 608873 SEMAN NA 9361278 Standard NM_032108 NM_032108 NA Approved semaZ, SEMA-VIB, SEM-SEMA-Y uc010dud.2 Q9H3T3 ENST00000586582.1:c.1122-99C>A chr19.hg19:g.4550383G>T NA A5PKU4|F6IB19|Q9NRK9 hg19 CCDS12131.1 0.02 1.520063 CAGxTTT COVERED NOVEL SEMA6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458656.2 3 5.41736 KEEP 1 0 0 18 629 GG 0.999366 0.999322 0 - 5 60 177 0 0 11.490123 94 60 3446 131 ENST00000586582.1 0.050505 0.999956 PLIN3 10226 __UNKNOWN__ __UNKNOWN__ 19 4852337 4852337 __UNKNOWN__ Intron SNP A A C rs2271057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:4852337A>C ENST00000592528.1 - 5 410 PLIN3_ENST00000585479.1_Intron|PLIN3_ENST00000221957.4_Intron O60664 PLIN3_HUMAN perilipin 3 NA NA vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020) cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CAGCATCAGCATCTCTGCCTT 0.632 NA A||| 1417 0.282947 0.2322 0.2997 5008 , , NA 17724 0.4712 NA 0.2744 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 A ,, 981,3425 343.6+/-307.7 110,761,1332 38 34 35 ,, -0.6 0 19 dbSNP_100 35 1716,6884 289.3+/-299.2 172,1372,2756 no intron,intron,intron PLIN3 NM_001164189.1,NM_001164194.1,NM_005817.4 ,, 282,2133,4088 CC,CA,AA 19.9535,22.2651,20.7366 ,, ,, 4852337 2697,10309 2203 4300 6503 SO:0001627 intron_variant AF051314 CCDS12137.1, CCDS59337.1, CCDS59338.1 19p13.3 2009-08-12 2009-08-12 2009-08-12 ENSG00000105355 10226 Perilipins 16893 protein-coding gene gene with protein product cargo selection protein (mannose 6 phosphate receptor binding protein), placental protein 17, MPR-BINDING PROTEIN, 47-KD 602702 mannose-6-phosphate receptor binding protein 1 M6PRBP1 NA 9590177, 6856484, 19638644 Standard NM_005817 NM_005817 NA Approved TIP47, PP17 uc002mbj.2 O60664 ENST00000592528.1:c.349-60T>G chr19.hg19:g.4852337A>C NA A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92 hg19 CCDS59337.1 0.02 9.32611 AGCxTCT COVERED NOVEL PLIN3-007 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000450437.1 3 17.081376 KEEP 0 1 32 68 2019 AA 1 1 0 - 8 60 295 0 0 18.615432 199 60 7070 328 ENST00000592528.1 0.038647 1 KDM4B 23030 __UNKNOWN__ __UNKNOWN__ 19 5114409 5114409 __UNKNOWN__ Intron SNP C C T rs148048943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:5114409C>T ENST00000159111.4 + 10 1333 KDM4B_ENST00000536461.1_Intron NM_015015.2 NP_055830 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B NA NA chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634) dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TGCAGGACACCGCCACGCCTC 0.716 NA C||| 60 0.0119808 0.0 0.0 5008 , , NA 12313 0.0575 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020683 CCDS12138.1 19p13.3 2013-01-23 2009-04-06 2009-04-06 ENSG00000127663 23030 Chromatin-modifying enzymes / K-demethylases, Tudor domain containing 29136 protein-coding gene gene with protein product tudor domain containing 14B 609765 jumonji domain containing 2B JMJD2B NA 10048485, 15138608 Standard NM_015015 NM_015015 NA Approved KIAA0876, TDRD14B uc002mbq.4 O94953 ENST00000159111.4:c.1115+3580C>T chr19.hg19:g.5114409C>T NA B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40 hg19 CCDS12138.1 0.02 6.500552 CACxGCC COVERED NOVEL KDM4B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450558.1 0 19.394825 KEEP 0 1 33 76 2545 CC 1 1 0 + 7 60 259 0 0 16.630323 160 60 5210 322 ENST00000159111.4 0.041916 1 SAFB 6294 __UNKNOWN__ __UNKNOWN__ 19 5667320 5667320 __UNKNOWN__ Intron SNP A A G rs151217910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:5667320A>G ENST00000588852.1 + 19 2506 SAFB_ENST00000592224.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000292123.5_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_Intron Q15424 SAFB1_HUMAN scaffold attachment factor B NA NA chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AGAGCCAGAGATGGGGGCAAT 0.592 NA A||| 92 0.0183706 0.0 0.0 5008 , , NA 16401 0.0863 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA Colon(88;338 1345 6184 8214 20897) NA 0 8 9 9 NA NA 19 NA 5667320 1912 3756 5668 SO:0001627 intron_variant L43631 CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1 19p13.3-p13.2 2013-02-12 ENSG00000160633 6294 RNA binding motif (RRM) containing 10520 protein-coding gene gene with protein product Hsp27 ERE-TATA binding protein 602895 NA 9605873, 8600450 Standard NM_002967 NA Approved HET, SAFB1 uc002mcg.3 Q15424 ENST00000588852.1:c.2454-38A>G chr19.hg19:g.5667320A>G NA A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8 hg19 CCDS59339.1 0.02 4.657788 GAGxTGG COVERED NOVEL SAFB-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000451645.1 1 17.753011 KEEP 0 0 0 59 1856 AA 1 1 0 + 8 60 287 0 0 19.264626 131 60 4636 246 ENST00000588852.1 0.057554 1 CATSPERD 257062 __UNKNOWN__ __UNKNOWN__ 19 5749070 5749070 __UNKNOWN__ Intron SNP C C T rs58136456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:5749070C>T ENST00000381624.3 + 11 965 CATSPERD_ENST00000381614.2_Intron NM_152784.3 NP_689997.3 Q86XM0 CTSRD_HUMAN catsper channel auxiliary subunit delta NA NA multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228) NA CAGAAATGACCAGCATTTCAA 0.443 NA c||| 1824 0.364217 0.1657 0.4352 5008 , , NA 19064 0.6647 NA 0.3539 False NA ,,, NA NA NA 2504 0.2832 NA NA NA NA 0 649,3073 58,533,1270 38 38 38 -4.3 0 19 dbSNP_129 38 2666,5520 445,1776,1872 no intron TMEM146 NM_152784.3 503,2309,3142 TT,TC,CC 32.5678,17.4369,27.8384 5749070 3315,8593 1861 4093 5954 SO:0001627 intron_variant BC043005 CCDS12149.2 19p13.3 2013-10-11 2012-02-22 2012-02-22 ENSG00000174898 ENSG00000174898 257062 28598 protein-coding gene gene with protein product transmembrane protein 146 TMEM146 NA 21224844 Standard NM_152784 NM_152784 NA Approved MGC39581 uc002mda.3 Q86XM0 OTTHUMG00000143036 ENST00000381624.3:c.905-42C>T chr19.hg19:g.5749070C>T NA Q6ZRP1 hg19 CCDS12149.2 0.02 16.456495 GACxAGC COVERED NOVEL CATSPERD-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000286953.2 18 32.506326 KEEP 0 0 0 108 3866 CC 1 1 0 + 18 60 688 1 0 45.637485 376 60 14289 641 ENST00000381624.3 0.045685 1 CATSPERD 257062 __UNKNOWN__ __UNKNOWN__ 19 5775337 5775337 __UNKNOWN__ Intron SNP G G C rs1026466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:5775337G>C ENST00000381624.3 + 21 2002 CATSPERD_ENST00000309164.7_Intron NM_152784.3 NP_689997.3 Q86XM0 CTSRD_HUMAN catsper channel auxiliary subunit delta NA NA multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228) NA ccacagacctgcgtatttatt 0.512 NA g||| 764 0.152556 0.1611 0.0663 5008 , , NA 15690 0.2163 NA 0.1133 False NA ,,, NA NA NA 2504 0.1769 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC043005 CCDS12149.2 19p13.3 2013-10-11 2012-02-22 2012-02-22 ENSG00000174898 ENSG00000174898 257062 28598 protein-coding gene gene with protein product transmembrane protein 146 TMEM146 NA 21224844 Standard NM_152784 NM_152784 NA Approved MGC39581 uc002mda.3 Q86XM0 OTTHUMG00000143036 ENST00000381624.3:c.1942-835G>C chr19.hg19:g.5775337G>C NA Q6ZRP1 hg19 CCDS12149.2 0.02 4.63978 CCTxCGT COVERED NOVEL CATSPERD-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000286953.2 5 11.738768 KEEP 0 0 0 39 1427 GG 1 1 0 + 5 60 184 0 0 11.42803 135 60 5064 226 ENST00000381624.3 0.035714 1 KHSRP 8570 __UNKNOWN__ __UNKNOWN__ 19 6417855 6417855 __UNKNOWN__ Intron SNP G G A rs2258496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6417855G>A ENST00000398148.3 - 11 1071 NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein NA NA gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351) cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 ACTGGCACCTGGGGAGGGAGG 0.637 NA OREG0025200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 2118 0.422923 0.4614 0.6196 5008 , , NA 17892 0.4603 NA 0.3539 False NA ,,, NA NA NA 2504 0.2638 NA NA NA Colon(55;593 1006 2067 9135 22980) NA 0 G 1713,2453 359,995,729 40 43 42 1.9 0.9 19 dbSNP_100 42 2918,5506 522,1874,1816 no intron KHSRP NM_003685.2 881,2869,2545 AA,AG,GG 34.6391,41.1186,36.7832 6417855 4631,7959 2083 4212 6295 SO:0001627 intron_variant U94832 CCDS45936.1 19p13.3 2010-11-23 2008-02-04 ENSG00000088247 ENSG00000088247 8570 6316 protein-coding gene gene with protein product FUSE binding protein 2 603445 NA 9136930, 8940189 Standard NM_003685 NA Approved KSRP, FBP2, FUBP2 uc002mer.4 Q92945 ENST00000398148.3:c.979-3C>T chr19.hg19:g.6417855G>A 633 O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5 hg19 CCDS45936.1 0.02 10.275152 CCTxGGG COVERED NOVEL KHSRP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453305.1 4 23.316008 KEEP 0 4 127 122 4362 GG 1 1 0 - 13 60 463 0 0 29.654828 268 60 10265 519 ENST00000398148.3 0.046263 1 CD70 970 __UNKNOWN__ __UNKNOWN__ 19 6586268 6586268 __UNKNOWN__ Silent SNP G G A rs1862511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6586268G>A ENST00000245903.3 - 3 494 c.345C>T c.(343-345)tgC>tgT p.C115C CD70_ENST00000423145.3_Silent_p.C115C NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 115 NA cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) protease binding (GO:0002020)|receptor binding (GO:0005102) endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 TCGTGGAGGAGCAGATGGCCA 0.632 NA g||| 1756 0.350639 0.1876 0.2464 5008 , , NA 16154 0.6756 NA 0.3022 False NA ,,, NA NA NA 2504 0.3599 NA NA NA Pancreas(183;2617 2876 10173 34193) NA 0 947,3459 358.4+/-314.3 99,749,1355 125 90 102 345 1.7 0.7 19 dbSNP_92 102 2476,6124 407.8+/-349.3 368,1740,2192 no coding-synonymous CD70 NM_001252.3 467,2489,3547 AA,AG,GG 28.7907,21.4934,26.3186 115/194 6586268 3423,9583 2203 4300 6503 SO:0001819 synonymous_variant L08096 CCDS12170.1 19p13 2013-05-22 2006-10-27 2006-10-27 ENSG00000125726 970 Tumor necrosis factor (ligand) superfamily, CD molecules 11937 protein-coding gene gene with protein product 602840 tumor necrosis factor (ligand) superfamily, member 7 CD27LG, TNFSF7 NA 8387892, 8120384 Standard NM_001252 NA Approved CD27L uc002mfi.3 P32970 ENST00000245903.3:c.345C>T chr19.hg19:g.6586268G>A NA B4DPR8|Q53XX4|Q96J57 hg19 CCDS12170.1 0.02 1.737277 GGAxCAG COVERED NOVEL CD70-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457860.1 0 3.009942 KEEP 0 0 0 10 366 GG 0.992708 0.992656 0 - 5 60 175 0 0 11.337203 92 60 3408 126 ENST00000245903.3 0.051546 0.999948 C3 718 __UNKNOWN__ __UNKNOWN__ 19 6681991 6681991 __UNKNOWN__ Silent SNP G G A rs7951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6681991G>A ENST00000245907.6 - 35 4403 c.4311C>T c.(4309-4311)gcC>gcT p.A1437A NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1437 Properdin-binding. NA complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102) breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) Intravenous Immunoglobulin(DB00028) TATCGGAGAAGGCTTTGTCCA 0.557 NA G||| 457 0.091254 0.0991 0.0634 5008 , , NA 19477 0.0942 NA 0.0746 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 436,3970 210.8+/-231.2 21,394,1788 188 171 177 4311 -1.1 0 19 dbSNP_52 177 695,7905 173.0+/-223.6 30,635,3635 no coding-synonymous C3 NM_000064.2 51,1029,5423 AA,AG,GG 8.0814,9.8956,8.696 1437/1664 6681991 1131,11875 2203 4300 6503 SO:0001819 synonymous_variant J04763 CCDS32883.1 19p13.3-p13.2 2014-09-17 ENSG00000125730 ENSG00000125730 718 3.4.21.43 Complement system, Endogenous ligands 1318 protein-coding gene gene with protein product C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3 120700 NA Standard NM_000064 NM_000064 NA Approved CPAMD1, ARMD9, C3a, C3b uc002mfm.3 P01024 OTTHUMG00000150335 ENST00000245907.6:c.4311C>T chr19.hg19:g.6681991G>A NA A7E236 hg19 CCDS32883.1 0.02 1.760264 GAAxGCT COVERED NOVEL C3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317636.2 1 6.019606 KEEP 0 0 0 20 709 GG 0.999863 0.99935 0 - 4 60 134 0 0 8.354282 79 60 3012 130 ENST00000245907.6 0.048193 0.999487 EMR1 2015 __UNKNOWN__ __UNKNOWN__ 19 6897392 6897392 __UNKNOWN__ Intron SNP G G A rs330879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6897392G>A ENST00000312053.4 + 5 431 EMR1_ENST00000601198.1_Intron|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 NA NA cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TTTCTGAACTGAGGCACCCAA 0.502 NA G||| 2396 0.478435 0.7579 0.4438 5008 , , NA 17956 0.4821 NA 0.2724 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 G 2958,1448 680.8+/-403.9 1003,952,248 64 57 60 -0.1 0 19 dbSNP_79 60 2614,5986 421.3+/-353.7 406,1802,2092 no intron EMR1 NM_001974.3 1409,2754,2340 AA,AG,GG 30.3953,32.8643,42.8418 6897392 5572,7434 2203 4300 6503 SO:0001627 intron_variant X81479 CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1 19p13.3 2014-08-08 2003-11-26 2015 -, GPCR / Class B : Orphans 3336 protein-coding gene gene with protein product 600493 egf-like module containing, mucin-like, hormone receptor-like sequence 1 TM7LN3 NA 7601460, 9500513 Standard NM_001974 NA Approved uc002mfw.4 Q14246 ENST00000312053.4:c.395-47G>A chr19.hg19:g.6897392G>A NA A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7 hg19 CCDS12175.1 0.02 12.85894 ACTxAGG COVERED NOVEL EMR1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458485.1 2 8.12473 KEEP 0 0 0 27 921 GG 0.999988 0.999988 0 + 12 60 427 0 0 26.102544 315 60 11958 413 ENST00000312053.4 0.036697 1 EMR1 2015 __UNKNOWN__ __UNKNOWN__ 19 6897464 6897464 __UNKNOWN__ Missense_Mutation SNP C C G rs330880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6897464C>G ENST00000312053.4 + 5 457 c.420C>G c.(418-420)agC>agG p.S140R EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381404.4_Missense_Mutation_p.S88R|EMR1_ENST00000250572.8_Missense_Mutation_p.S140R|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Splice_Site NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 140 EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA S -> R (in dbSNP:rs330880). {ECO:0000269|PubMed:7601460}. cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCACCAGCAGCGTCTGCCCTG 0.488 NA g||| 2513 0.501797 0.8328 0.4496 5008 , , NA 18558 0.4831 NA 0.2734 False NA ,,, NA NA NA 2504 0.3456 NA NA NA NA 0 G ARG/SER 3211,1195 416.3+/-337.5 1181,849,173 96 79 85 420 -3.2 0 19 dbSNP_79 85 2630,5970 687.8+/-404.2 410,1810,2080 yes missense EMR1 NM_001974.3 110 1591,2659,2253 GG,GC,CC 30.5814,27.1221,44.91 benign 140/887 6897464 5841,7165 2203 4300 6503 SO:0001583 missense X81479 CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1 19p13.3 2014-08-08 2003-11-26 2015 -, GPCR / Class B : Orphans 3336 protein-coding gene gene with protein product 600493 egf-like module containing, mucin-like, hormone receptor-like sequence 1 TM7LN3 NA 7601460, 9500513 Standard NM_001974 NA Approved uc002mfw.4 Q14246 ENST00000312053.4:c.420C>G chr19.hg19:g.6897464C>G ENSP00000311545:p.Ser140Arg NA A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7 hg19 CCDS12175.1 0.02 10.660401 CAGxGTC COVERED 1030|1030 0.4716117216117216|0.4716117216117216 395|395 0.8028455284552846|0.8028455284552846 147|147 0.40607734806629836|0.40607734806629836 290|290 0.506993006993007|0.506993006993007 198|198 0.2612137203166227|0.2612137203166227 G|G 2.796|2.796 -0.250332|-0.250332 0.05867|0.05867 0.728779|0.728779 0.305814|0.305814 ENSG00000174837|ENSG00000174837 ENST00000450315|ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572 .|D;D;D .|0.91996 .|-2.95;-2.95;-2.95 4.12|4.12 -3.22|-3.22 0.05125|0.05125 .|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); .|. .|. .|. .|. .|T .|0.00012 .|0.0000 L|L 0.36672|0.36672 1.1|1.1 0.52501|0.52501 P|P 4.599999999999049E-5|4.599999999999049E-5 .|B;B;B .|0.06786 .|0.0;0.0;0.001 .|B;B;B .|0.12156 .|0.001;0.005;0.007 .|T .|0.38067 .|-0.9678 .|8 .|0.15499 .|T .|0.54 .|. 5.443|5.443 0.16519|0.16519 0.3573:0.4541:0.1886:0.0|0.3573:0.4541:0.1886:0.0 rs330880;rs2228537;rs52813683;rs60071314;rs330880|rs330880;rs2228537;rs52813683;rs60071314;rs330880 .|140;88;140 .|Q14246-2;E9PD45;Q14246 .|.;.;EMR1_HUMAN .|R -1|140;140;88;140 .|ENSP00000311545:S140R;ENSP00000370811:S88R;ENSP00000250572:S140R .|ENSP00000250572:S140R .|S +|+ .|3 .|2 EMR1|EMR1 6848464|6848464 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 -1.976000|-1.976000 0.01497|0.01497 -0.762000|-0.762000 0.04664|0.04664 -0.215000|-0.215000 0.12644|0.12644 .|AGC NOVEL EMR1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458485.1 2 9.02933 KEEP 0 0 0 30 1052 CC 0.999997 0.999997 0 + 11 60 402 0 0 25.074804 283 60 9846 378 ENST00000312053.4 0.037415 1 EMR1 2015 __UNKNOWN__ __UNKNOWN__ 19 6903920 6903920 __UNKNOWN__ Missense_Mutation SNP A A G rs443658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6903920A>G ENST00000312053.4 + 7 798 c.761A>G c.(760-762)aAt>aGt p.N254S EMR1_ENST00000381404.4_Missense_Mutation_p.N202S|EMR1_ENST00000250572.8_Missense_Mutation_p.N254S|EMR1_ENST00000381407.5_Missense_Mutation_p.N113S|EMR1_ENST00000450315.3_Intron NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 254 EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA N -> S (in dbSNP:rs443658). {ECO:0000269|PubMed:7601460}. cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GCACCAAGCAATGGACAGTTG 0.458 NA A||| 2167 0.432708 0.6664 0.4193 5008 , , NA 23379 0.4554 NA 0.2396 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 A SER/ASN 2594,1812 639.9+/-397.2 780,1034,389 99 98 98 761 -0.2 0 19 dbSNP_80 98 2211,6389 375.7+/-337.9 290,1631,2379 yes missense EMR1 NM_001974.3 46 1070,2665,2768 GG,GA,AA 25.7093,41.1257,36.9445 benign 254/887 6903920 4805,8201 2203 4300 6503 SO:0001583 missense X81479 CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1 19p13.3 2014-08-08 2003-11-26 2015 -, GPCR / Class B : Orphans 3336 protein-coding gene gene with protein product 600493 egf-like module containing, mucin-like, hormone receptor-like sequence 1 TM7LN3 NA 7601460, 9500513 Standard NM_001974 NA Approved uc002mfw.4 Q14246 ENST00000312053.4:c.761A>G chr19.hg19:g.6903920A>G ENSP00000311545:p.Asn254Ser NA A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7 hg19 CCDS12175.1 0.02 10.595773 GCAxTGG COVERED 918 0.42032967032967034 318 0.6463414634146342 137 0.3784530386740331 283 0.49475524475524474 180 0.23746701846965698 A 1.890 -0.455654 0.04540 0.588743 0.257093 ENSG00000174837 ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407 D;D;D;D 0.92647 -3.08;-2.22;-3.08;-2.22 3.35 -0.148 0.13424 EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); . . . . T 0.00012 0.0000 L 0.28776 0.89 0.54753 P 1.799999999996249E-5 B;D;P;P 0.71674 0.304;0.998;0.555;0.832 B;D;B;P 0.80764 0.068;0.994;0.159;0.519 T 0.48547 -0.9026 8 0.02654 T 1 . 5.7979 0.18397 0.5085:0.0:0.4915:0.0 rs443658;rs2228534;rs52792901;rs59336086;rs443658 113;254;202;254 B7Z486;Q14246-2;E9PD45;Q14246 .;.;.;EMR1_HUMAN S 254;254;202;254;113 ENSP00000311545:N254S;ENSP00000370811:N202S;ENSP00000250572:N254S;ENSP00000370814:N113S ENSP00000250572:N254S N + 2 0 EMR1 6854920 0.000000 0.05858 0.041000 0.18516 0.229000 0.25112 -0.193000 0.09573 0.024000 0.15214 -0.408000 0.06270 AAT NOVEL EMR1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458485.1 2 5.551513 KEEP 0 1 36 31 978 AA 0.999997 0.999997 0 + 8 60 305 0 0 18.435478 281 60 10143 401 ENST00000312053.4 0.027682 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 6994972 6994972 __UNKNOWN__ IGR SNP G G A rs10416745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:6994972G>A NA NA EMR4P (4115 upstream) : AC025278.1 (16541 downstream) NA NA NA tctgcaaaacgtagctaagaa 0.458 NA G||| 1495 0.298522 0.0862 0.4092 5008 , , NA 25528 0.3998 NA 0.3499 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.6994972G>A NA hg19 0.02 10.616722 AACxTAG COVERED NOVEL 0 1 11.772936 KEEP 0 1 31 50 1754 GG 1 1 0 9 60 340 0 0 20.759868 290 60 9893 428 0.0301 1 INSR 3643 __UNKNOWN__ __UNKNOWN__ 19 7202732 7202732 __UNKNOWN__ Intron SNP G G A rs11881057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:7202732G>A ENST00000302850.5 - 3 795 INSR_ENST00000341500.5_Intron NM_000208.2 NP_000199.2 P06213 INSR_HUMAN insulin receptor NA NA activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087) caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716) breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 "Insulin(DB00071)|"Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277) ggctggtctcgaactcctgac 0.527 NA G||| 725 0.144768 0.2474 0.0893 5008 , , NA 15004 0.0536 NA 0.0845 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M10051 CCDS12176.1, CCDS42487.1 19p13.3-p13.2 2013-02-11 ENSG00000171105 3643 CD molecules, Fibronectin type III domain containing 6091 protein-coding gene gene with protein product 147670 NA 2983222 Standard NM_000208 NA Approved CD220 uc002mgd.1 P06213 ENST00000302850.5:c.653-18084C>T chr19.hg19:g.7202732G>A NA Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9 hg19 CCDS12176.1 0.02 -0.043865 CTCxAAC UNCOVERED NOVEL INSR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000458544.1 3 2.40282 KEEP 0 0 0 8 251 GG 0.99257 0.023895 0 - 3 60 105 0 0 10.954207 1 60 35 18 ENST00000302850.5 0.75 0.024074 TIMM44 10469 __UNKNOWN__ __UNKNOWN__ 19 7997676 7997676 __UNKNOWN__ Intron SNP G G A rs2279528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:7997676G>A ENST00000270538.3 - 9 1131 NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) NA NA cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450) NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 GGAAGGCCGGGGACCCCGCCC 0.677 NA G||| 1120 0.223642 0.0393 0.2493 5008 , , NA 14142 0.4484 NA 0.2217 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 G 336,4070 175.9+/-205.1 9,318,1876 53 55 54 2.2 0 19 dbSNP_100 54 2073,6527 357.8+/-330.9 261,1551,2488 no intron TIMM44 NM_006351.3 270,1869,4364 AA,AG,GG 24.1047,7.626,18.5222 7997676 2409,10597 2203 4300 6503 SO:0001627 intron_variant AF026030 CCDS12192.1 19p13.3-p13.2 2008-07-04 ENSG00000104980 10469 17316 protein-coding gene gene with protein product 605058 NA 10848612, 10339406 Standard NM_006351 NA Approved TIM44 uc002miz.3 O43615 ENST00000270538.3:c.863-40C>T chr19.hg19:g.7997676G>A NA A8K0R9|D6W664|Q8N193 hg19 CCDS12192.1 0.02 8.708189 CGGxGAC COVERED NOVEL TIMM44-001 KNOWN upstream_uORF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461596.3 1 41.767135 KEEP 0 0 0 139 4777 GG 1 1 0 - 10 60 324 0 0 18.313424 280 60 9961 534 ENST00000270538.3 0.034483 1 ELAVL1 1994 __UNKNOWN__ __UNKNOWN__ 19 8032432 8032432 __UNKNOWN__ Intron SNP G G A rs3826740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8032432G>A ENST00000407627.2 - 5 786 ELAVL1_ENST00000596459.1_Intron|ELAVL1_ENST00000351593.5_Intron|ELAVL1_ENST00000593807.1_Intron NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 NA NA 3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCAGGAGCGCGCACCCTCCCG 0.627 NA G||| 1127 0.22504 0.0151 0.2565 5008 , , NA 16883 0.4782 NA 0.2286 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 G 251,4155 137.3+/-173.1 7,237,1959 41 37 38 0.5 0 19 dbSNP_107 38 2169,6431 361.3+/-332.3 283,1603,2414 no intron ELAVL1 NM_001419.2 290,1840,4373 AA,AG,GG 25.2209,5.6968,18.6068 8032432 2420,10586 2203 4300 6503 SO:0001627 intron_variant U38175 CCDS12193.1 19p13.2 2013-10-03 2013-10-03 ENSG00000066044 1994 RNA binding motif (RRM) containing 3312 protein-coding gene gene with protein product embryonic lethal, abnormal vision, drosophila, homolog-like 1, Hu antigen R 603466 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) HUR NA 8626503, 9003489 Standard NM_001419 NM_001419 NA Approved HuR, Hua, MelG uc002mjb.3 Q15717 ENST00000407627.2:c.656+16C>T chr19.hg19:g.8032432G>A NA B4DVB8|Q53XN6|Q9BTT1 hg19 CCDS12193.1 0.02 -0.333308 CGCxCAC COVERED NOVEL ELAVL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461494.3 1 3.911236 KEEP 0 0 0 13 417 GG 0.994391 0.847205 0 - 4 60 147 0 0 11.056485 34 60 1125 59 ENST00000407627.2 0.105263 0.851984 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8137902 8137902 __UNKNOWN__ Intron SNP C C T rs7254691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8137902C>T ENST00000600128.1 - 62 8352 FBN3_ENST00000601739.1_Intron|FBN3_ENST00000270509.2_Intron Q75N90 FBN3_HUMAN fibrillin 3 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 cgtgCATGGACGCTTGCGGGG 0.597 NA c||| 2882 0.575479 0.8964 0.6455 5008 , , NA 14378 0.3333 NA 0.5586 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 C 3723,683 1589,545,69 28 29 29 -4.8 0 19 dbSNP_116 29 4641,3959 1263,2115,922 no intron FBN3 NM_032447.3 2852,2660,991 TT,TC,CC 46.0349,15.5016,35.6912 8137902 8364,4642 2203 4300 6503 SO:0001627 intron_variant CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.7937+44G>A chr19.hg19:g.8137902C>T NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 1.815989 GGAxGCT COVERED NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 0 6.319906 KEEP 0 0 0 21 712 CC 0.999869 0.999637 0 - 4 60 141 0 0 8.945377 84 60 2927 137 ENST00000600128.1 0.045455 0.999768 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8137908 8137908 __UNKNOWN__ Intron SNP C C T rs386806535|rs28657412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8137908C>T ENST00000600128.1 - 62 8352 FBN3_ENST00000601739.1_Intron|FBN3_ENST00000270509.2_Intron Q75N90 FBN3_HUMAN fibrillin 3 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGACGCTTGCGGGGCATGGA 0.597 NA C||| 2882 0.575479 0.8964 0.6455 5008 , , NA 14614 0.3333 NA 0.5586 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 C 3714,692 1591,532,80 32 33 33 -3.5 0 19 dbSNP_125 33 4476,4124 1257,1962,1081 no intron FBN3 NM_032447.3 2848,2494,1161 TT,TC,CC 47.9535,15.7059,37.0291 8137908 8190,4816 2203 4300 6503 SO:0001627 intron_variant CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.7937+38G>A chr19.hg19:g.8137908C>T NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 1.619841 TTGxGGG COVERED NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 0 6.621125 KEEP 0 0 0 22 742 CC 0.999879 0.999835 0 - 4 60 142 0 0 8.836451 95 60 3304 151 ENST00000600128.1 0.040404 0.999956 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8148314 8148314 __UNKNOWN__ Intron SNP A A C rs17160149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8148314A>C ENST00000600128.1 - 57 7502 FBN3_ENST00000601739.1_Intron|FBN3_ENST00000270509.2_Intron Q75N90 FBN3_HUMAN fibrillin 3 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TCCACCGAGGAATGTCTCCTT 0.607 NA C||| 1606 0.320687 0.3979 0.4712 5008 , , NA 17898 0.252 NA 0.336 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.7088-58T>G chr19.hg19:g.8148314A>C NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 10.744503 AGGxATG COVERED NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 1 6.917197 KEEP 0 0 0 23 671 AA 0.999892 0.999892 0 - 10 60 364 0 0 22.744315 252 60 8727 342 ENST00000600128.1 0.038168 1 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8176569 8176569 __UNKNOWN__ Silent SNP G G A rs35306870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8176569G>A ENST00000600128.1 - 32 4461 c.4047C>T c.(4045-4047)tgC>tgT p.C1349C FBN3_ENST00000601739.1_Silent_p.C1349C|FBN3_ENST00000270509.2_Silent_p.C1349C Q75N90 FBN3_HUMAN fibrillin 3 1349 EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGCCCTGGCGGCAGGTGCAGC 0.632 NA G||| 1287 0.256989 0.1331 0.3876 5008 , , NA 10551 0.4226 NA 0.2346 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 G 755,3651 297.6+/-284.8 59,637,1507 32 32 32 4047 1.6 0.3 19 dbSNP_126 32 2078,6522 351.7+/-328.4 242,1594,2464 no coding-synonymous FBN3 NM_032447.3 301,2231,3971 AA,AG,GG 24.1628,17.1357,21.7823 1349/2810 8176569 2833,10173 2203 4300 6503 SO:0001819 synonymous_variant CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.4047C>T chr19.hg19:g.8176569G>A NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 6.35484 GCGxCAG COVERED NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 0 8.125755 KEEP 0 0 0 27 928 GG 0.999988 0.999988 0 - 7 60 255 0 0 16.134938 165 60 6176 244 ENST00000600128.1 0.040698 1 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8176640 8176640 __UNKNOWN__ Missense_Mutation SNP C C T rs12975322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8176640C>T ENST00000600128.1 - 32 4390 c.3976G>A c.(3976-3978)Gtc>Atc p.V1326I FBN3_ENST00000601739.1_Missense_Mutation_p.V1326I|FBN3_ENST00000270509.2_Missense_Mutation_p.V1326I Q75N90 FBN3_HUMAN fibrillin 3 1326 EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA V -> I (in dbSNP:rs12975322). {ECO:0000269|PubMed:11347906}. proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TCCTGGGAGACGCATTCATCC 0.622 NA C||| 1416 0.282748 0.2322 0.3905 5008 , , NA 10528 0.4206 NA 0.2326 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 C ILE/VAL 1126,3280 396.3+/-330.0 135,856,1212 50 49 49 3976 1.7 0 19 dbSNP_121 49 2080,6520 357.9+/-330.9 242,1596,2462 yes missense FBN3 NM_032447.3 29 377,2452,3674 TT,TC,CC 24.186,25.5561,24.6502 benign 1326/2810 8176640 3206,9800 2203 4300 6503 SO:0001583 missense CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.3976G>A chr19.hg19:g.8176640C>T ENSP00000470498:p.Val1326Ile NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 4.663518 AGAxGCA COVERED 683 0.31272893772893773 129 0.2621951219512195 126 0.34806629834254144 248 0.43356643356643354 180 0.23746701846965698 C 8.020 0.759456 0.15846 0.255561 0.24186 ENSG00000142449 ENST00000270509 D 0.87179 -2.22 3.95 1.72 0.24424 EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.503112 0.19831 U 0.105085 T 0.00012 0.0000 N 0.03917 -0.325 0.80722 P 0.0 P 0.36535 0.557 B 0.29440 0.102 T 0.35847 -0.9772 9 0.37606 T 0.19 . 6.808 0.23788 0.0:0.6905:0.0:0.3095 rs12975322;rs56654013;rs12975322 1326 Q75N90 FBN3_HUMAN I 1326 ENSP00000270509:V1326I ENSP00000270509:V1326I V - 1 0 FBN3 8082640 0.000000 0.05858 0.000000 0.03702 0.324000 0.28378 -0.922000 0.04004 0.131000 0.18576 0.313000 0.20887 GTC NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 1 4.812869 KEEP 0 0 0 16 522 CC 0.997832 0.997813 0 - 6 60 228 0 0 15.705209 98 60 3219 144 ENST00000600128.1 0.057692 0.999981 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8190750 8190750 __UNKNOWN__ Intron SNP T T C rs35988441 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8190750T>C ENST00000600128.1 - 22 3146 FBN3_ENST00000601739.1_Intron|FBN3_ENST00000270509.2_Intron Q75N90 FBN3_HUMAN fibrillin 3 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGTGTGGCCCTGTATGCGGAC 0.562 NA T||| 940 0.1877 0.0877 0.3098 5008 , , NA 16135 0.3234 NA 0.172 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 T 511,3895 31,449,1723 38 34 36 -4.9 0 19 dbSNP_126 36 1391,7207 105,1181,3013 no intron FBN3 NM_032447.3 136,1630,4736 CC,CT,TT 16.1782,11.5978,14.6263 8190750 1902,11102 2203 4299 6502 SO:0001627 intron_variant CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.2731+25A>G chr19.hg19:g.8190750T>C NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 4.76276 CCCxGTA COVERED NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 2 4.045516 KEEP 0 1 33 25 765 TT 0.999957 0.999938 0 - 6 60 215 0 0 14.408765 98 60 3601 153 ENST00000600128.1 0.057692 0.999981 FBN3 84467 __UNKNOWN__ __UNKNOWN__ 19 8212163 8212163 __UNKNOWN__ Intron SNP C C T rs56243829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8212163C>T ENST00000600128.1 - 2 582 FBN3_ENST00000601739.1_Intron|FBN3_ENST00000270509.2_Intron Q75N90 FBN3_HUMAN fibrillin 3 NA NA proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CAATCCACACCGAAGGGGTCT 0.687 NA C||| 706 0.140974 0.0938 0.1527 5008 , , NA 15413 0.1885 NA 0.1412 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 C 396,3980 17,362,1809 21 22 22 1.9 0 19 dbSNP_129 22 1196,7382 84,1028,3177 no intron FBN3 NM_032447.3 101,1390,4986 TT,TC,CC 13.9426,9.0494,12.2896 8212163 1592,11362 2188 4289 6477 SO:0001627 intron_variant CCDS12196.1 19p13 2008-02-05 84467 18794 protein-coding gene gene with protein product 608529 NA Standard NM_032447 NM_032447 NA Approved uc002mjf.3 Q75N90 ENST00000600128.1:c.167+34G>A chr19.hg19:g.8212163C>T NA Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8 hg19 CCDS12196.1 0.02 6.423977 CACxGAA COVERED NOVEL FBN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461428.2 1 7.22324 KEEP 0 0 0 24 829 CC 0.999909 0.999909 0 - 8 60 293 0 0 18.77655 179 60 6346 270 ENST00000600128.1 0.042781 1 RAB11B 9230 __UNKNOWN__ __UNKNOWN__ 19 8468337 8468337 __UNKNOWN__ Silent SNP C C T rs2230876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8468337C>T ENST00000328024.6 + 5 770 c.552C>T c.(550-552)cgC>cgT p.R184R NM_004218.3 NP_004209.2 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 184 NA R -> C (in Ref. 6; CAG46492). {ECO:0000305}. cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572) cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489) large_intestine(2)|lung(1)|ovary(1) 4 TCGCAGACCGCGCTGCCCACG 0.652 NA C||| 1653 0.330072 0.2632 0.219 5008 , , NA 15294 0.5188 NA 0.2873 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 C 1104,3302 397.2+/-330.3 144,816,1243 137 110 119 552 -5.4 0 19 dbSNP_98 119 2468,6132 407.7+/-349.2 355,1758,2187 no coding-synonymous RAB11B NM_004218.3 499,2574,3430 TT,TC,CC 28.6977,25.0567,27.4642 184/219 8468337 3572,9434 2203 4300 6503 SO:0001819 synonymous_variant X79780 CCDS12201.1 19p13.2 2012-07-02 ENSG00000185236 ENSG00000185236 9230 RAB, member RAS oncogene 9761 protein-coding gene gene with protein product 604198 NA 7811277 Standard NM_004218 NM_004218 NA Approved H-YPT3 uc002mju.4 Q15907 ENST00000328024.6:c.552C>T chr19.hg19:g.8468337C>T NA A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07 hg19 CCDS12201.1 0.02 19.959708 CCGxGCT COVERED NOVEL RAB11B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460343.2 2 49.881636 KEEP 0 4 114 206 7134 CC 1 1 0 + 19 60 710 0 0 45.128063 474 60 16354 923 ENST00000328024.6 0.03854 1 ZNF414 84330 __UNKNOWN__ __UNKNOWN__ 19 8578035 8578035 __UNKNOWN__ Missense_Mutation SNP T T C rs8100431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8578035T>C ENST00000393927.4 - 2 307 c.194A>G c.(193-195)cAg>cGg p.Q65R ZNF414_ENST00000255616.8_Missense_Mutation_p.Q65R NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 65 NA Q -> R (in dbSNP:rs8100431). {ECO:0000269|PubMed:15489334}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) lung(2) 2 GGAGCCCTGCTGCATCCCTCC 0.706 NA T||| 1544 0.308307 0.1415 0.2709 5008 , , NA 15055 0.5357 NA 0.3082 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 T ARG/GLN,ARG/GLN 655,3647 61,533,1557 8 8 8 194,194 2 0.4 19 dbSNP_116 8 2293,6123 349,1595,2264 yes missense,missense ZNF414 NM_001146175.1,NM_032370.2 43,43 410,2128,3821 CC,CT,TT 27.2457,15.2255,23.1797 benign,benign 65/391,65/313 8578035 2948,9770 2151 4208 6359 SO:0001583 missense AK074191 CCDS12205.1, CCDS54211.1 19p13.2 2008-02-05 ENSG00000133250 84330 Zinc fingers, C2H2-type 20630 protein-coding gene gene with protein product NA Standard NM_032370 NM_032370 NA Approved MGC15716, Zfp414 uc002mke.4 Q96IQ9 ENST00000393927.4:c.194A>G chr19.hg19:g.8578035T>C ENSP00000377504:p.Gln65Arg NA A8MY94 hg19 CCDS54211.1 0.02 1.616934 TGCxGCA COVERED 713 0.32646520146520147 69 0.1402439024390244 113 0.31215469613259667 297 0.5192307692307693 234 0.3087071240105541 T 13.78 2.338251 0.41398 0.152255 0.272457 ENSG00000133250 ENST00000393927;ENST00000255616 T;T 0.08546 3.08;3.08 4.13 1.95 0.26073 . 0.000000 0.33438 N 0.004910 T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 D;D 0.57899 0.981;0.981 D;D 0.70487 0.969;0.954 T 0.47459 -0.9116 9 0.66056 D 0.02 -9.8746 3.2547 0.06827 0.2039:0.1132:0.0:0.6829 rs8100431;rs17355273;rs17855387 65;65 Q96IQ9;A8MY94 ZN414_HUMAN;. R 65 ENSP00000377504:Q65R;ENSP00000255616:Q65R ENSP00000255616:Q65R Q - 2 0 ZNF414 8484035 0.982000 0.34865 0.422000 0.26621 0.367000 0.29736 0.944000 0.29043 0.223000 0.20920 0.533000 0.62120 CAG NOVEL ZNF414-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460195.1 0 8.122378 KEEP 0 0 0 27 802 TT 0.999988 0.999756 0 - 5 60 171 0 0 11.154725 83 60 2908 126 ENST00000393927.4 0.056818 0.999768 MYO1F 4542 __UNKNOWN__ __UNKNOWN__ 19 8642160 8642160 __UNKNOWN__ Intron SNP T T C rs4542783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8642160T>C ENST00000338257.8 - 1 271 MYO1F_ENST00000595046.1_5'UTR NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF NA NA defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088) cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461) actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CTCCTCTTTCTTCTTCCAGAT 0.587 NA C||| 2943 0.58766 0.6104 0.5807 5008 , , NA 12458 0.7401 NA 0.4712 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 C 2141,1663 610,921,371 53 51 51 2.6 0 19 dbSNP_111 51 3684,4564 825,2034,1265 no intron MYO1F NM_012335.3 1435,2955,1636 CC,CT,TT 44.6654,43.7171,48.3322 8642160 5825,6227 1902 4124 6026 SO:0001627 intron_variant X98411 CCDS42494.1 19p13.3-p13.2 2011-09-27 ENSG00000142347 ENSG00000142347 4542 Myosins / Myosin superfamily : Class I 7600 protein-coding gene gene with protein product 601480 NA 9119401, 8884266 Standard NM_012335 NA Approved uc002mkg.3 O00160 OTTHUMG00000156005 ENST00000338257.8:c.3+30A>G chr19.hg19:g.8642160T>C NA Q8WWN7 hg19 CCDS42494.1 0.02 6.517888 TTCxTCT COVERED NOVEL MYO1F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000342716.2 3 13.84223 KEEP 0 0 0 46 1447 TT 1 1 0 - 6 60 223 0 0 13.478916 193 60 7144 300 ENST00000338257.8 0.030151 1 ADAMTS10 81794 __UNKNOWN__ __UNKNOWN__ 19 8654916 8654916 __UNKNOWN__ Intron SNP G G A rs3923268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8654916G>A ENST00000597188.1 - 16 2068 ADAMTS10_ENST00000595838.1_Intron|ADAMTS10_ENST00000270328.4_Intron NM_030957.2 NP_112219.3 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 NA NA extracellular matrix (GO:0031012)|microfibril (GO:0001527) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCCAGGCTTGGGGGGATGGAG 0.612 NA G||| 980 0.195687 0.0045 0.2277 5008 , , NA 17325 0.4802 NA 0.0964 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 G 82,4320 1,80,2120 21 23 22 -1.5 0 19 dbSNP_108 22 638,7962 29,580,3691 no intron ADAMTS10 NM_030957.2 30,660,5811 AA,AG,GG 7.4186,1.8628,5.5376 8654916 720,12282 2201 4300 6501 SO:0001627 intron_variant AF163762 CCDS12206.1, CCDS62529.1 19p13.2 2014-08-12 2005-08-19 ENSG00000142303 ENSG00000142303 81794 ADAM metallopeptidases with thrombospondin type 1 motif 13201 protein-coding gene gene with protein product 608990 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10 NA Standard NM_030957 XM_005272499 NA Approved ADAM-TS10 uc002mkj.1 Q9H324 OTTHUMG00000182216 ENST00000597188.1:c.1798-41C>T chr19.hg19:g.8654916G>A NA M0QZE4 hg19 CCDS12206.1 0.02 4.548793 TTGxGGG COVERED NOVEL ADAMTS10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460085.3 0 5.718146 KEEP 0 0 0 19 649 GG 0.99986 0.999857 0 - 6 60 231 0 0 15.687062 111 60 4018 148 ENST00000597188.1 0.051282 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 8871585 8871585 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:8871585C>A NA NA OR2Z1 (29214 upstream) : ZNF558 (48794 downstream) NA NA NA gccttcttcccttccccttcc 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.8871585C>A NA hg19 0.02 -0.438615 TCCxTTC COVERED NOVEL 0 8 3.345651 KEEP 30 1 31 22 783 CC 0.993634 0.953748 0 8 45 269 0 0 21.175869 42 47 1630 123 0.16 0.959859 MUC16 94025 __UNKNOWN__ __UNKNOWN__ 19 9026318 9026318 __UNKNOWN__ Intron SNP A A G rs62118275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:9026318A>G ENST00000397910.4 - 14 36874 NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated NA NA cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCCAGCAGCTATAGTGGGAGT 0.428 NA G||| 600 0.119808 0.2088 0.0692 5008 , , NA 21669 0.1647 NA 0.0457 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G 722,3290 67,588,1351 169 152 158 1.3 0 19 dbSNP_129 158 334,8032 4,326,3853 no intron MUC16 NM_024690.2 71,914,5204 GG,GA,AA 3.9923,17.996,8.5313 9026318 1056,11322 2006 4183 6189 SO:0001627 intron_variant AF414442 CCDS54212.1 19p13.2 2008-02-05 2006-03-14 ENSG00000181143 94025 Mucins 15582 protein-coding gene gene with protein product 606154 NA 11369781 Standard NM_024690 XM_006722941 NA Approved CA125, FLJ14303 uc002mkp.3 Q8WXI7 ENST00000397910.4:c.36671-3T>C chr19.hg19:g.9026318A>G NA Q6ZQW5|Q96RK2 hg19 CCDS54212.1 0.02 6.549902 GCTxTAG COVERED NOVEL MUC16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000402806.1 2 7.822946 KEEP 0 0 0 26 798 AA 0.999957 0.999957 0 - 8 60 308 0 0 20.529801 166 60 5970 263 ENST00000397910.4 0.045977 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 9289081 9289081 __UNKNOWN__ IGR SNP G G T rs75138893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:9289081G>T NA NA ZNF317 (14992 upstream) : OR7D2 (7197 downstream) NA NA NA aaagtgtgtggggggggtact 0.433 NA T||| 159 0.0317492 0.0015 0.0375 5008 , , NA 20440 0.126 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.9289081G>T NA hg19 0.02 1.868581 GTGxGGG COVERED NOVEL 0 1 2.407833 KEEP 0 0 0 8 280 GG 0.99257 0.991982 0 20 60 716 0 0 61.359392 62 60 2316 110 0.243902 0.999407 COL5A3 50509 __UNKNOWN__ __UNKNOWN__ 19 10097192 10097192 __UNKNOWN__ Intron SNP C C G rs201058207 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10097192C>G ENST00000264828.3 - 29 2330 NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 NA NA axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588) collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCCGAGCCCCCAGACCCACAC 0.562 NA C||| 19 0.00379393 0.0 0.0 5008 , , NA 13748 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 49 53 51 NA NA 19 NA 10097192 2203 4300 6503 SO:0001627 intron_variant AF177941 CCDS12222.1 19p13.2 2013-01-16 ENSG00000080573 ENSG00000080573 50509 Collagens 14864 protein-coding gene gene with protein product 120216 NA 10722718 Standard NM_015719 NM_015719 NA Approved uc002mmq.1 P25940 OTTHUMG00000150019 ENST00000264828.3:c.2244+36G>C chr19.hg19:g.10097192C>G NA Q9NZQ6 hg19 CCDS12222.1 0.02 11.778108 CCCxAGA COVERED NOVEL COL5A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315788.1 0 22.572281 KEEP 0 0 0 75 2615 CC 1 1 0 - 15 60 508 0 0 32.886218 254 60 9564 423 ENST00000264828.3 0.055762 1 PPAN-P2RY11 692312 __UNKNOWN__ __UNKNOWN__ 19 10216926 10216926 __UNKNOWN__ 5'UTR SNP A A C rs551378309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10216926A>C ENST00000428358.1 + 0 28 NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 PPAN-P2RY11 readthrough NA NA breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GCTCCATCTGATTGCCCCTCC 0.687 NA A||| 3 0.000599042 0.0 0.0 5008 , , NA 14024 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ300588 CCDS42498.1, CCDS56082.1 19p13.2 2009-09-17 ENSG00000243207 ENSG00000243207 692312 33526 other readthrough NA Standard NM_001040664 NM_001040664 NA Approved uc002mna.3 OTTHUMG00000150165 ENST00000428358.1:c.-145A>C chr19.hg19:g.10216926A>C NA hg19 CCDS56082.1 0.02 21.652259 CTGxTTG COVERED NOVEL PPAN-P2RY11-002 NOVEL basic|readthrough_transcript|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000345524.1 5 118.846795 KEEP 0 0 0 395 12261 AA 1 1 0 + 18 60 691 0 0 44.335847 464 60 16685 1164 ENST00000428358.1 0.037344 1 ICAM3 3385 __UNKNOWN__ __UNKNOWN__ 19 10444826 10444826 __UNKNOWN__ Intron SNP G G A rs2278442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10444826G>A ENST00000160262.5 - 6 1650 ICAM3_ENST00000589261.1_Intron NM_002162.3 NP_002153.2 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 NA NA extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) integrin binding (GO:0005178)|receptor binding (GO:0005102) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) GCAGCCCCGTGTTAGCTCACC 0.572 NA g||| 3372 0.673323 0.5983 0.7277 5008 , , NA 16269 0.744 NA 0.6581 False NA ,,, NA NA NA 2504 0.6789 NA NA NA NA 0 A 2703,1703 649.6+/-398.9 831,1041,331 61 58 59 -3.5 0 19 dbSNP_100 59 5536,3064 660.3+/-401.8 1800,1936,564 no intron ICAM3 NM_002162.3 2631,2977,895 AA,AG,GG 35.6279,38.6518,36.6523 10444826 8239,4767 2203 4300 6503 SO:0001627 intron_variant CCDS12235.1 19p13.3-p13.2 2013-01-11 ENSG00000076662 3385 CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5346 protein-coding gene gene with protein product 146631 NA 1448174 Standard NM_002162 NA Approved CDW50, ICAM-R, CD50 uc002mob.2 P32942 ENST00000160262.5:c.1441+9C>T chr19.hg19:g.10444826G>A NA Q6PD68 hg19 CCDS12235.1 0.02 19.328227 CGTxTTA COVERED NOVEL ICAM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451234.1 4 65.741942 KEEP 0 4 115 259 9072 GG 1 1 0 - 18 60 643 0 0 39.296885 480 60 17223 995 ENST00000160262.5 0.036145 1 TYK2 7297 __UNKNOWN__ __UNKNOWN__ 19 10475652 10475652 __UNKNOWN__ Missense_Mutation SNP C C A rs2304256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10475652C>A ENST00000525621.1 - 8 1565 c.1084G>T c.(1084-1086)Gtc>Ttc p.V362F TYK2_ENST00000529370.1_Missense_Mutation_p.V362F|TYK2_ENST00000264818.6_Missense_Mutation_p.V362F|TYK2_ENST00000524462.1_Missense_Mutation_p.V177F NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 362 FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}. NA V -> F (in dbSNP:rs2304256). {ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:2216457, ECO:0000269|Ref.2}. cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GGCTGGCCGACTGCCTTGTGA 0.617 NA C||| 1331 0.265775 0.0893 0.1945 5008 , , NA 15329 0.5238 NA 0.2624 False NA ,,, NA NA NA 2504 0.2924 NA NA NA NA 0 GRCh37 CM050351 TYK2 M rs2304256 C PHE/VAL 510,3896 233.9+/-246.9 34,442,1727 43 43 43 http://www.ncbi.nlm.nih.gov/pubmed?term 1084 -0.8 0 19 dbSNP_100 43 2411,6189 398.1+/-346.0 329,1753,2218 yes missense TYK2 NM_003331.4 50 363,2195,3945 AA,AC,CC http://www.ncbi.nlm.nih.gov/pubmed?term 28.0349,11.5751,22.4589 benign 362/1188 10475652 2921,10085 2203 4300 6503 SO:0001583 missense CCDS12236.1 19p13.2 2014-09-17 ENSG00000105397 ENSG00000105397 7297 2.7.10.1 12440 protein-coding gene gene with protein product 176941 NA 2156206 Standard NM_003331 NA Approved JTK1 uc002moc.4 P29597 OTTHUMG00000166373 ENST00000525621.1:c.1084G>T chr19.hg19:g.10475652C>A ENSP00000431885:p.Val362Phe NA Q6QB10|Q96CH0 hg19 CCDS12236.1 0.02 7.779487 CGAxTGC COVERED 627 0.28708791208791207 61 0.12398373983739837 85 0.23480662983425415 271 0.4737762237762238 210 0.2770448548812665 C 10.11 1.260535 0.23051 0.115751 0.280349 ENSG00000105397 ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370 T;T;T;T 0.09911 2.93;2.93;2.93;2.93 4.19 -0.832 0.10785 FERM domain (1); 1.288840 0.05643 N 0.583836 T 0.00012 0.0000 L 0.29908 0.895 0.80722 P 0.0 B;B 0.33694 0.421;0.015 B;B 0.28991 0.097;0.021 T 0.46965 -0.9153 9 0.56958 D 0.05 -2.2569 6.2456 0.20815 0.0:0.5268:0.2881:0.1851 rs2304256;rs2304256 362;362 E9PPF2;P29597 .;TYK2_HUMAN F 177;362;362;109;362 ENSP00000433203:V177F;ENSP00000431885:V362F;ENSP00000264818:V362F;ENSP00000432728:V362F ENSP00000264818:V362F V - 1 0 TYK2 10336652 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -0.040000 0.12104 -0.107000 0.12088 -1.338000 0.01255 GTC NOVEL TYK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389443.1 1 15.313988 KEEP 0 0 0 51 1747 CC 1 1 0 - 12 60 405 0 0 25.387982 236 60 8324 372 ENST00000525621.1 0.048387 1 TYK2 7297 __UNKNOWN__ __UNKNOWN__ 19 10477067 10477067 __UNKNOWN__ Intron SNP A A G rs34725611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10477067A>G ENST00000525621.1 - 6 1111 TYK2_ENST00000529370.1_Intron|TYK2_ENST00000264818.6_Intron|TYK2_ENST00000524462.1_Intron NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 NA NA cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CTGCCTACACAGCGTCCCCAC 0.567 NA A||| 1349 0.269369 0.0893 0.1945 5008 , , NA 17980 0.5288 NA 0.2634 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 A 514,3892 235.2+/-247.8 34,446,1723 54 51 52 -5.3 0 19 dbSNP_126 52 2418,6182 400.1+/-346.7 332,1754,2214 no intron TYK2 NM_003331.4 366,2200,3937 GG,GA,AA 28.1163,11.6659,22.5434 10477067 2932,10074 2203 4300 6503 SO:0001627 intron_variant CCDS12236.1 19p13.2 2014-09-17 ENSG00000105397 ENSG00000105397 7297 2.7.10.1 12440 protein-coding gene gene with protein product 176941 NA 2156206 Standard NM_003331 NA Approved JTK1 uc002moc.4 P29597 OTTHUMG00000166373 ENST00000525621.1:c.629+25T>C chr19.hg19:g.10477067A>G NA Q6QB10|Q96CH0 hg19 CCDS12236.1 0.02 1.72861 CACxGCG COVERED NOVEL TYK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000389443.1 0 4.513651 KEEP 0 0 0 15 473 AA 0.99649 0.996439 0 - 8 60 256 0 0 17.397482 90 60 3231 120 ENST00000525621.1 0.081633 0.999948 KRI1 65095 __UNKNOWN__ __UNKNOWN__ 19 10670184 10670184 __UNKNOWN__ Missense_Mutation SNP C C G rs3826709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10670184C>G ENST00000312962.6 - 12 1082 c.1063G>C c.(1063-1065)Gag>Cag p.E355Q KRI1_ENST00000361821.5_Missense_Mutation_p.E351Q NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 349 Glu-rich. NA nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGCTTGAGCTCTTCCTGCTTC 0.612 NA C||| 3116 0.622204 0.7247 0.6441 5008 , , NA 18769 0.755 NA 0.4523 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 C GLN/GLU 3119,1287 699.4+/-406.5 1110,899,194 104 96 99 1063 5 1 19 dbSNP_107 99 4117,4483 563.6+/-388.2 963,2191,1146 yes missense KRI1 NM_023008.3 29 2073,3090,1340 GG,GC,CC 47.8721,29.2102,44.3641 probably-damaging 355/710 10670184 7236,5770 2203 4300 6503 SO:0001583 missense CCDS12242.1 19p13.2 2008-02-05 ENSG00000129347 ENSG00000129347 65095 25769 protein-coding gene gene with protein product NA 12878157 Standard NM_023008 NM_023008 NA Approved FLJ12949 uc002moy.1 Q8N9T8 OTTHUMG00000150343 ENST00000312962.6:c.1063G>C chr19.hg19:g.10670184C>G ENSP00000320917:p.Glu355Gln NA Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978 hg19 CCDS12242.1 0.02 13.836855 GCTxTTC COVERED 1362 0.6236263736263736 357 0.725609756097561 212 0.585635359116022 439 0.7674825174825175 354 0.46701846965699206 C 12.08 1.831560 0.32329 0.707898 0.478721 ENSG00000129347 ENST00000312962;ENST00000361821;ENST00000541101 T;T 0.37411 1.2;1.2 4.97 4.97 0.65823 . 0.179255 0.48286 D 0.000187 T 0.00012 0.0000 L 0.58583 1.82 0.24477 P 0.99436703 B;B 0.27732 0.187;0.187 B;B 0.26416 0.069;0.069 T 0.22695 -1.0209 9 0.48119 T 0.1 -26.2698 17.0551 0.86531 0.0:1.0:0.0:0.0 rs3826709;rs52823377;rs59047500;rs3826709 355;351 Q8N9T8;D3YTE0 KRI1_HUMAN;. Q 355;351;355 ENSP00000320917:E355Q;ENSP00000355366:E351Q ENSP00000320917:E355Q E - 1 0 KRI1 10531184 1.000000 0.71417 0.998000 0.56505 0.476000 0.33039 4.333000 0.59285 2.306000 0.77630 0.644000 0.83932 GAG NOVEL KRI1-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317705.1 0 30.699979 KEEP 0 0 0 102 3641 CC 1 1 0 - 12 60 449 0 0 28.450262 306 60 11606 526 ENST00000312962.6 0.037736 1 AP1M2 10053 __UNKNOWN__ __UNKNOWN__ 19 10692000 10692000 __UNKNOWN__ Silent SNP T T C rs1045361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10692000T>C ENST00000250244.6 - 6 697 c.615A>G c.(613-615)tcA>tcG p.S205S AP1M2_ENST00000590923.1_Silent_p.S205S NM_005498.4 NP_005489.2 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 205 MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}. NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CTGGCATTCCTGACAGAAACA 0.557 NA OREG0025241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) t||| 1866 0.372604 0.2557 0.5115 5008 , , NA 19255 0.6627 NA 0.1779 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 T 924,3180 101,722,1229 51 54 53 615 -10.6 0 19 dbSNP_86 53 1683,6737 165,1353,2692 yes coding-synonymous AP1M2 NM_005498.4 266,2075,3921 CC,CT,TT 19.9881,22.5146,20.816 205/424 10692000 2607,9917 2052 4210 6262 SO:0001819 synonymous_variant AF020797 CCDS45964.1 19p13.2 2008-10-07 ENSG00000129354 10053 558 protein-coding gene gene with protein product 607309 NA 10338135 Standard NM_005498 NA Approved HSMU1B, mu2, AP1-mu2 uc002mpc.3 Q9Y6Q5 ENST00000250244.6:c.615A>G chr19.hg19:g.10692000T>C 666 B2RDV5|Q9BSI8 hg19 CCDS45964.1 0.02 5.733786 TCCxGAC COVERED NOVEL AP1M2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000452034.1 3 10.467233 KEEP 0 1 38 48 1494 TT 1 1 0 - 7 60 249 0 0 15.294452 179 60 6656 291 ENST00000250244.6 0.037634 1 AP1M2 10053 __UNKNOWN__ __UNKNOWN__ 19 10692117 10692117 __UNKNOWN__ Intron SNP T T C rs2304161 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10692117T>C ENST00000250244.6 - 5 629 AP1M2_ENST00000590923.1_Intron NM_005498.4 NP_005489.2 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CTCCGTCTCCTGCAGCCAGGC 0.552 NA OREG0025241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1865 0.372404 0.2557 0.5115 5008 , , NA 20026 0.6627 NA 0.1779 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 C 936,3304 103,730,1287 44 47 46 -8.6 0 19 dbSNP_100 46 1703,6789 167,1369,2710 no intron AP1M2 NM_005498.4 270,2099,3997 CC,CT,TT 20.0542,22.0755,20.7273 10692117 2639,10093 2120 4246 6366 SO:0001627 intron_variant AF020797 CCDS45964.1 19p13.2 2008-10-07 ENSG00000129354 10053 558 protein-coding gene gene with protein product 607309 NA 10338135 Standard NM_005498 NA Approved HSMU1B, mu2, AP1-mu2 uc002mpc.3 Q9Y6Q5 ENST00000250244.6:c.546+45A>G chr19.hg19:g.10692117T>C 666 B2RDV5|Q9BSI8 hg19 CCDS45964.1 0.02 15.531098 TCCxGCA COVERED NOVEL AP1M2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000452034.1 2 16.850514 KEEP 0 0 0 56 1746 TT 1 1 0 - 14 60 512 0 0 32.138718 349 60 13065 487 ENST00000250244.6 0.038567 1 AP1M2 10053 __UNKNOWN__ __UNKNOWN__ 19 10692129 10692129 __UNKNOWN__ Intron SNP G G A rs2304160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10692129G>A ENST00000250244.6 - 5 629 AP1M2_ENST00000590923.1_Intron NM_005498.4 NP_005489.2 Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032) clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CAGCCAGGCCGTGGAAGGGGT 0.557 NA OREG0025241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1866 0.372604 0.2557 0.5115 5008 , , NA 20513 0.6627 NA 0.1779 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 G 951,3317 104,743,1287 43 46 45 -7.9 0 19 dbSNP_100 45 1708,6778 169,1370,2704 no intron AP1M2 NM_005498.4 273,2113,3991 AA,AG,GG 20.1273,22.2821,20.8484 10692129 2659,10095 2134 4243 6377 SO:0001627 intron_variant AF020797 CCDS45964.1 19p13.2 2008-10-07 ENSG00000129354 10053 558 protein-coding gene gene with protein product 607309 NA 10338135 Standard NM_005498 NA Approved HSMU1B, mu2, AP1-mu2 uc002mpc.3 Q9Y6Q5 ENST00000250244.6:c.546+33C>T chr19.hg19:g.10692129G>A 666 B2RDV5|Q9BSI8 hg19 CCDS45964.1 0.02 15.851208 GCCxTGG COVERED NOVEL AP1M2-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000452034.1 2 18.656301 KEEP 0 0 0 62 2050 GG 1 1 0 - 19 60 676 1 0 44.357559 353 60 12224 499 ENST00000250244.6 0.051075 1 DNM2 1785 __UNKNOWN__ __UNKNOWN__ 19 10940718 10940718 __UNKNOWN__ Intron SNP A A G rs58724234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10940718A>G ENST00000359692.6 + 19 2429 DNM2_ENST00000314646.5_Intron|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000355667.6_Intron|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000389253.4_Intron NM_004945.3 NP_004936.2 P50570 DYN2_HUMAN dynamin 2 NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GCCAGCCCCCACCTCAGGTTC 0.657 NA F, N, Splice, Mis, O ETP ALL G||| 591 0.118011 0.0885 0.1066 5008 , , NA 15081 0.3393 NA 0.0308 False NA ,,, NA NA NA 2504 0.0276 NA NA NA Rec yes 19 19p13.2 1785 dynamin 2 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1 19p 2014-09-17 1785 Pleckstrin homology (PH) domain containing 2974 protein-coding gene gene with protein product dynamin II, cytoskeletal protein 602378 NA 7590285, 9143510 Standard NM_004945 NM_001190716 NA Approved DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB uc002mps.2 P50570 ENST00000359692.6:c.2280-85A>G chr19.hg19:g.10940718A>G NA A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4 hg19 CCDS32907.1 0.02 4.385834 CCCxCCT COVERED NOVEL DNM2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000452591.1 0 7.220825 KEEP 0 0 0 24 739 AA 0.999909 0.999905 0 + 5 60 174 0 0 10.918997 107 60 3748 147 ENST00000359692.6 0.044643 0.999995 TMED1 11018 __UNKNOWN__ __UNKNOWN__ 19 10946117 10946117 __UNKNOWN__ Intron SNP A A G rs59746253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:10946117A>G ENST00000591695.1 - 2 310 TMED1_ENST00000588289.1_Intron|TMED1_ENST00000214869.2_Intron Q13445 TMED1_HUMAN transmembrane emp24 protein transport domain containing 1 NA NA cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1) 10 ACACTGATCAATACAGACCAC 0.632 NA A||| 540 0.107827 0.056 0.1023 5008 , , NA 16436 0.3403 NA 0.0308 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U41804 CCDS12249.1 19p13.2 2008-02-05 2005-08-26 ENSG00000099203 11018 17291 protein-coding gene gene with protein product 605395 transmembrane emp24 domain containing 1 NA 11466339, 8621446 Standard NM_006858 NM_006858 NA Approved ST2L, MGC1270, IL1RL1LG, Il1rl1l uc002mpy.3 Q13445 ENST00000591695.1:c.184-88T>C chr19.hg19:g.10946117A>G NA hg19 0.02 -0.429543 TCAxTAC COVERED NOVEL TMED1-006 PUTATIVE not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000452616.1 1 3.60923 KEEP 0 0 0 12 337 AA 0.993634 0.948414 0 - 3 60 109 0 0 7.432897 46 60 1615 64 ENST00000591695.1 0.061224 0.954491 CARM1 10498 __UNKNOWN__ __UNKNOWN__ 19 11031464 11031464 __UNKNOWN__ Intron SNP C C G rs2288842 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:11031464C>G ENST00000327064.4 + 12 1614 CARM1_ENST00000344150.4_Intron NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 NA NA cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GGCGCCCCGGCCCTGCAACCC 0.642 NA C||| 1328 0.265176 0.1293 0.2565 5008 , , NA 16953 0.5089 NA 0.2744 False NA ,,, NA NA NA 2504 0.1943 NA NA NA NA 0 C 633,3773 267.7+/-268.0 43,547,1613 49 50 50 0.5 0 19 dbSNP_100 50 2273,6327 368.1+/-334.9 308,1657,2335 no intron CARM1 NM_199141.1 351,2204,3948 GG,GC,CC 26.4302,14.3668,22.3435 11031464 2906,10100 2203 4300 6503 SO:0001627 intron_variant AF055027 CCDS12250.1 19p13.2 2010-10-11 ENSG00000142453 ENSG00000142453 10498 Protein arginine methyltransferases 23393 protein-coding gene gene with protein product 603934 NA 10381882, 11724789 Standard XM_032719 NM_199141 NA Approved PRMT4 uc002mpz.3 Q86X55 ENST00000327064.4:c.1424+40C>G chr19.hg19:g.11031464C>G NA A6NN38 hg19 CCDS12250.1 0.02 11.430507 CGGxCCT COVERED NOVEL CARM1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000452625.1 1 23.175153 KEEP 0 0 0 77 2792 CC 1 1 0 + 9 60 349 0 0 21.836372 277 60 10215 460 ENST00000327064.4 0.031469 1 YIPF2 78992 __UNKNOWN__ __UNKNOWN__ 19 11034846 11034846 __UNKNOWN__ Intron SNP C C T rs2304086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:11034846C>T ENST00000590329.1 - 6 472 YIPF2_ENST00000253031.2_Silent_p.T130T|YIPF2_ENST00000586748.1_Silent_p.T130T Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 NA NA integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAAAGGCCAACGTGGCACAGA 0.637 NA C||| 419 0.0836661 0.0023 0.0836 5008 , , NA 18470 0.3433 NA 0.006 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 C 26,4380 35.2+/-66.4 1,24,2178 38 38 38 390 -10.1 0.7 19 dbSNP_100 38 22,8576 16.6+/-54.9 1,20,4278 no coding-synonymous YIPF2 NM_024029.3 2,44,6456 TT,TC,CC 0.2559,0.5901,0.3691 130/317 11034846 48,12956 2203 4299 6502 SO:0001627 intron_variant BC013014 CCDS12251.1 19p13.2 2008-02-05 ENSG00000130733 78992 Yip1 domain family 28476 protein-coding gene gene with protein product NA 12477932 Standard NM_024029 NM_024029 NA Approved MGC3262, FinGER2 uc002mqc.3 Q9BWQ6 ENST00000590329.1:c.368-171G>A chr19.hg19:g.11034846C>T NA hg19 0.02 4.121359 CAAxGTG COVERED NOVEL YIPF2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000453050.1 0 10.830338 KEEP 0 0 0 36 1157 CC 0.999999 0.999999 0 - 7 60 255 0 0 16.708835 136 60 4502 206 ENST00000590329.1 0.048951 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 11380855 11380855 __UNKNOWN__ IGR SNP C C G rs12971903 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:11380855C>G NA NA DOCK6 (7727 upstream) : TSPAN16 (25968 downstream) NA NA NA aggccaaggccggtggatcaa 0.542 NA g||| 2651 0.529353 0.1142 0.6225 5008 , , NA 15386 0.6399 NA 0.7028 False NA ,,, NA NA NA 2504 0.7321 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.11380855C>G NA hg19 0.02 3.74722 GGCxGGT COVERED NOVEL 0 311 9.724131 KEEP 348 11 377 164 5768 CC 1 1 0 7 60 244 0 0 27.738794 0 0 0 714 1 1 DKFZP761J1410 0 __UNKNOWN__ __UNKNOWN__ 19 11473415 11473415 __UNKNOWN__ Intron SNP C C T rs12983706 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:11473415C>T ENST00000251473.5 + 7 1216 DKFZP761J1410_ENST00000591608.1_Intron NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 NA NA NA CACCAGCTCTCTGACCCAAGA 0.562 NA C||| 969 0.19349 0.025 0.2219 5008 , , NA 16084 0.2073 NA 0.3101 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 C , 298,4108 7,284,1912 19 17 18 , -1.1 0 19 dbSNP_121 18 2601,5997 386,1829,2084 no intron,intron LPPR2 NM_001170635.1,NM_022737.2 , 393,2113,3996 TT,TC,CC 30.2512,6.7635,22.2931 , , 11473415 2899,10105 2203 4299 6502 SO:0001627 intron_variant NA NA NA NA ENST00000251473.5:c.840+50C>T chr19.hg19:g.11473415C>T NA hg19 CCDS12258.1 0.02 3.745095 TCTxTGA COVERED NOVEL DKFZP761J1410-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458779.1 4 9.329367 KEEP 0 0 0 31 1126 CC 0.999997 0.999997 0 + 5 60 175 0 0 10.704234 124 60 4698 184 ENST00000251473.5 0.03876 1 ZNF653 115950 __UNKNOWN__ __UNKNOWN__ 19 11598077 11598077 __UNKNOWN__ Intron SNP T T G rs117978184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:11598077T>G ENST00000293771.5 - 4 1308 CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 CAACCACCCCTGGCCAGAGGC 0.682 NA T||| 24 0.00479233 0.0 0.0 5008 , , NA 16222 0.0238 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(83;980 1446 4542 6441 43352) NA 0 41 43 42 NA NA 19 NA 11598077 2203 4298 6501 SO:0001627 intron_variant AY072704 CCDS12261.1 19p13.2 2013-01-08 115950 Zinc fingers, C2H2-type 25196 protein-coding gene gene with protein product 611371 NA 12477932 Standard NM_138783 NM_138783 NA Approved Zip67 uc002mrz.2 Q96CK0 ENST00000293771.5:c.1171+29A>C chr19.hg19:g.11598077T>G NA Q96AS7 hg19 CCDS12261.1 0.02 7.562648 CCCxGGC COVERED NOVEL ZNF653-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458836.2 4 12.014981 KEEP 0 0 0 40 1197 TT 1 1 0 - 7 60 244 0 0 13.887637 243 60 8799 330 ENST00000293771.5 0.028 1 ZNF440 126070 __UNKNOWN__ __UNKNOWN__ 19 11940750 11940750 __UNKNOWN__ Intron SNP C C T rs77744942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:11940750C>T ENST00000304060.5 + 2 167 NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 gcagcctgaccaacgtggaga 0.498 NA C||| 141 0.028155 0.0 0.0 5008 , , NA 19806 0.131 NA 0.002 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK095252 CCDS42503.1 19p13.13 2013-01-08 2006-08-14 2006-08-14 ENSG00000171295 ENSG00000171295 126070 Zinc fingers, C2H2-type, - 20874 protein-coding gene gene with protein product NA Standard NM_152357 NM_152357 NA Approved FLJ37933 uc002msp.1 Q8IYI8 OTTHUMG00000156403 ENST00000304060.5:c.4-348C>T chr19.hg19:g.11940750C>T NA Q8N1R9 hg19 CCDS42503.1 0.02 2.42251 GACxAAC COVERED NOVEL ZNF440-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344508.1 1 2.407518 KEEP 0 0 0 8 265 CC 0.99257 0.963607 0 + 5 60 186 0 0 13.794955 48 60 1736 65 ENST00000304060.5 0.09434 0.97082 ZNF763 284390 __UNKNOWN__ __UNKNOWN__ 19 12087921 12087921 __UNKNOWN__ Silent SNP G G C rs376310072 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:12087921G>C ENST00000358987.3 + 2 199 c.72G>C c.(70-72)tcG>tcC p.S24S ZNF763_ENST00000538752.1_Silent_p.S44S|ZNF763_ENST00000590798.1_Silent_p.S44S|ZNF763_ENST00000592625.1_Silent_p.S24S|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000591944.1_Silent_p.S93S|ZNF763_ENST00000343949.5_Silent_p.S27S Q0D2J5 ZN763_HUMAN zinc finger protein 763 24 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TGGATATTTCGCAGAGGAAAC 0.493 NA N||| 4 0.000798722 0.0023 0.0 5008 , , NA 18630 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 150 152 151 NA NA 19 NA 12087921 2203 4300 6503 SO:0001819 synonymous_variant AK092240 CCDS45982.1 19p13.2 2014-02-12 2006-08-14 ENSG00000197054 ENSG00000197054 284390 Zinc fingers, C2H2-type, - 27614 protein-coding gene gene with protein product NA Standard NM_001012753 NM_001012753 NA Approved ZNF440L Q0D2J5 OTTHUMG00000156430 ENST00000358987.3:c.72G>C chr19.hg19:g.12087921G>C NA B3KRU3|B4DRE7 hg19 0.02 7.071271 TTCxCAG COVERED NOVEL ZNF763-002 KNOWN basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000344158.1 3 7.897352 KEEP 4 2 71 51 1759 GG 1 1 0 + 8 27 280 0 0 16.628914 230 60 7768 341 ENST00000358987.3 0.033613 1 ZNF433 163059 __UNKNOWN__ __UNKNOWN__ 19 12128726 12128726 __UNKNOWN__ Missense_Mutation SNP T T C rs77897724 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:12128726T>C ENST00000344980.6 - 3 335 c.165A>G c.(163-165)atA>atG p.I55M CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.10_ENST00000547473.1_3'UTR|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.I20M NM_001080411.1 NP_001073880.1 Q8N7K0 ZN433_HUMAN zinc finger protein 433 55 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 ACTCTACATATATGTTCTGGG 0.313 NA T||| 144 0.028754 0.0008 0.0 5008 , , NA 15807 0.1339 NA 0.002 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 T MET/ILE 3,3625 0,3,1811 120 108 111 165 -0.5 0 19 dbSNP_131 111 0,8128 0,0,4064 yes missense ZNF433 NM_001080411.1 10 0,3,5875 CC,CT,TT 0.0,0.0827,0.0255 probably-damaging 55/674 12128726 3,11753 1814 4064 5878 SO:0001583 missense AK098300 CCDS45983.1 19p13.13 2013-01-08 ENSG00000197647 ENSG00000197647 163059 Zinc fingers, C2H2-type, - 20811 protein-coding gene gene with protein product NA Standard NM_152602 NM_001080411 NA Approved FLJ40981 uc002msy.1 Q8N7K0 OTTHUMG00000156427 ENST00000344980.6:c.165A>G chr19.hg19:g.12128726T>C ENSP00000339767:p.Ile55Met NA Q86VX3 hg19 CCDS45983.1 0.02 2.478583 ATAxATG COVERED 68 0.031135531135531136 1 0.0020325203252032522 0 0.0 65 0.11363636363636363 2 0.002638522427440633 T 7.910 0.736305 0.15574 8.27E-4 0.0 ENSG00000197647 ENST00000419886;ENST00000344980;ENST00000550507;ENST00000455504;ENST00000552904;ENST00000478765;ENST00000547560;ENST00000550745 T;T;T;T;T;T;T;T 0.35605 3.12;5.6;5.6;5.6;4.03;5.6;1.3;5.6 0.746 -0.529 0.11901 Krueppel-associated box (3); . . . . T 0.00412 0.0013 L 0.41027 1.25 0.09310 N 1 B 0.34290 0.447 B 0.26614 0.071 T 0.05767 -1.0865 9 0.44086 T 0.13 . 3.9217 0.09247 0.3576:0.0:0.0:0.6423 . 55 Q8N7K0 ZN433_HUMAN M 20;55;52;66;20;66;20;54 ENSP00000393416:I20M;ENSP00000339767:I55M;ENSP00000448099:I52M;ENSP00000414857:I66M;ENSP00000448233:I20M;ENSP00000447951:I66M;ENSP00000448806:I20M;ENSP00000447205:I54M ENSP00000339767:I55M I - 3 3 ZNF433 11989726 0.000000 0.05858 0.001000 0.08648 0.755000 0.42902 -0.378000 0.07446 -0.290000 0.09025 0.260000 0.18958 ATA NOVEL ZNF433-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000403716.1 2 10.531072 KEEP 0 0 0 35 1080 TT 0.999999 0.98416 0 - 4 60 156 0 0 11.188434 54 60 1937 115 ENST00000344980.6 0.068966 0.984161 ZNF443 10224 __UNKNOWN__ __UNKNOWN__ 19 12541772 12541772 __UNKNOWN__ Missense_Mutation SNP C C T rs149635681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:12541772C>T ENST00000301547.5 - 4 1411 c.1214G>A c.(1213-1215)cGc>cAc p.R405H CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 405 NA apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 AAAGCTTGAGCGATGAGATAA 0.413 NA .||| 14 0.00279553 0.0 0.0 5008 , , NA 23527 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 198 180 186 NA NA 19 NA 12541772 2203 4300 6503 SO:0001583 missense AB011414 CCDS32918.1 19p13.13 2013-01-08 ENSG00000180855 ENSG00000180855 10224 Zinc fingers, C2H2-type, - 20878 protein-coding gene gene with protein product 606697 NA 9731181 Standard NM_005815 NM_005815 NA Approved ZK1 uc002mtu.3 Q9Y2A4 OTTHUMG00000156404 ENST00000301547.5:c.1214G>A chr19.hg19:g.12541772C>T ENSP00000301547:p.Arg405His NA hg19 CCDS32918.1 0.02 14.612592 GAGxGAT COVERED 7 0.003205128205128205 0 0.0 0 0.0 7 0.012237762237762238 0 0.0 C 2.424 -0.332344 0.05314 . . ENSG00000180855 ENST00000301547;ENST00000411622 T 0.07800 3.16 1.37 -2.74 0.05932 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.03959 0.0111 L 0.42529 1.33 0.09310 N 1 B 0.09022 0.002 B 0.04013 0.001 T 0.45862 -0.9232 9 0.14656 T 0.56 . 5.9555 0.19271 0.2026:0.3475:0.4499:0.0 . 405 Q9Y2A4 ZN443_HUMAN H 405 ENSP00000301547:R405H ENSP00000301547:R405H R - 2 0 ZNF443 12402772 0.000000 0.05858 0.000000 0.03702 0.170000 0.22686 -1.778000 0.01778 -0.838000 0.04218 0.461000 0.40582 CGC NOVEL ZNF443-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000344084.1 4 15.984278 KEEP 0 1 31 64 2176 CC 1 1 0 - 14 60 486 0 0 29.741883 340 60 11899 467 ENST00000301547.5 0.039548 1 CACNA1A 773 __UNKNOWN__ __UNKNOWN__ 19 13418707 13418707 __UNKNOWN__ Intron SNP C C T rs16015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:13418707C>T ENST00000360228.5 - 15 1913 CACNA1A_ENST00000573710.2_Intron NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit NA NA adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750) cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661) TGGCCCCACCCGGGGTGCTCT 0.537 NA C||| 498 0.0994409 0.0431 0.098 5008 , , NA 18309 0.0625 NA 0.165 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 C ,,,, 211,3619 13,185,1717 59 58 59 ,,,, -0.1 0 19 dbSNP_54 59 1342,6892 100,1142,2875 no intron,intron,intron,intron,intron CACNA1A NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2 ,,,, 113,1327,4592 TT,TC,CC 16.2983,5.5091,12.873 ,,,, ,,,, 13418707 1553,10511 1915 4117 6032 SO:0001627 intron_variant U79666 CCDS45998.1, CCDS45999.1 19p13 2014-09-17 ENSG00000141837 ENSG00000141837 773 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1388 protein-coding gene gene with protein product 601011 CACNL1A4, SCA6, MHP1, MHP NA 8825650, 16382099, 23827678 Standard NM_000068 NM_000068 NA Approved Cav2.1, EA2, APCA, HPCA, FHM uc010xne.2 O00555 OTTHUMG00000044590 ENST00000360228.5:c.1914-39G>A chr19.hg19:g.13418707C>T NA J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4 hg19 CCDS45998.1 0.02 6.730335 ACCxGGG COVERED NOVEL CACNA1A-001 KNOWN non_canonical_U12|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000104062.2 0 7.524375 KEEP 0 0 0 25 890 CC 0.999931 0.999931 0 - 8 60 302 0 0 20.41007 144 60 5041 233 ENST00000360228.5 0.052632 1 ZSWIM4 65249 __UNKNOWN__ __UNKNOWN__ 19 13936534 13936534 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:13936534G>T ENST00000254323.2 + 11 2217 ZSWIM4_ENST00000440752.2_Intron NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 NA NA zinc ion binding (GO:0008270) central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GCAGGTGAGGGCTGCCAGGTG 0.697 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022283 CCDS32924.1 19p13.13 2012-02-23 ENSG00000132003 ENSG00000132003 65249 Zinc fingers, SWIM-type 25704 protein-coding gene gene with protein product NA Standard XM_031342 NM_023072 NA Approved FLJ12221 uc002mxh.1 Q9H7M6 ENST00000254323.2:c.2028+7G>T chr19.hg19:g.13936534G>T NA hg19 CCDS32924.1 0.02 2.693979 AGGxCTG COVERED NOVEL ZSWIM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457457.1 2 2.268102 KEEP 0 7 90 41 1109 GG 1 0.999981 0 + 19 60 238 0 0 12.007738 85 60 2294 168 ENST00000254323.2 0.182692 0.999981 NANOS3 342977 __UNKNOWN__ __UNKNOWN__ 19 13988416 13988416 __UNKNOWN__ Intron SNP A A G rs2016163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:13988416A>G ENST00000591727.1 + 2 132 NANOS3_ENST00000397555.2_Silent_p.T99T|NANOS3_ENST00000339133.5_Silent_p.T118T P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) NA NA germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GCGGCGCCACACGTGAGCGCG 0.657 NA G||| 2032 0.405751 0.7587 0.2478 5008 , , NA 14719 0.3194 NA 0.2127 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 G 2973,1325 1042,889,218 27 33 31 354 -10 0 19 dbSNP_92 31 1863,6663 207,1449,2607 no coding-synonymous NANOS3 NM_001098622.2 1249,2338,2825 GG,GA,AA 21.8508,30.8283,37.7105 118/193 13988416 4836,7988 2149 4263 6412 SO:0001627 intron_variant BM702754 CCDS42511.1 19p13.13 2003-12-01 ENSG00000187556 342977 22048 protein-coding gene gene with protein product 608229 NA Standard XM_292819 NM_001098622 NA Approved NANOS1L, NOS3 uc002mxj.4 P60323 ENST00000591727.1:c.133-2840A>G chr19.hg19:g.13988416A>G NA Q495E5 hg19 0.02 13.169283 CACxCGT COVERED NOVEL NANOS3-002 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000457943.1 1 39.71415 KEEP 0 0 0 132 3998 AA 1 1 0 + 14 60 461 0 0 26.924449 357 60 12586 606 ENST00000591727.1 0.037736 1 C19orf57 79173 __UNKNOWN__ __UNKNOWN__ 19 14000400 14000400 __UNKNOWN__ Silent SNP A A G rs3803891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14000400A>G ENST00000346736.2 - 6 1396 c.1269T>C c.(1267-1269)ccT>ccC p.P423P C19orf57_ENST00000454313.1_Silent_p.P423P|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Silent_p.P423P NM_024323.3 NP_077299.3 Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 423 NA multicellular organismal development (GO:0007275) breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CTCCGCTCCCAGGTGCCAGAG 0.622 NA G||| 1962 0.391773 0.733 0.2363 5008 , , NA 17769 0.3085 NA 0.2117 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 G 2879,1527 462.4+/-353.2 946,987,270 39 43 42 1269 -9.4 0 19 dbSNP_107 42 1834,6766 709.4+/-405.7 193,1448,2659 no coding-synonymous C19orf57 NM_024323.3 1139,2435,2929 GG,GA,AA 21.3256,34.6573,36.2371 423/638 14000400 4713,8293 2203 4300 6503 SO:0001819 synonymous_variant BC012945 CCDS12299.1 19p13.12 2012-10-26 ENSG00000132016 ENSG00000132016 79173 28153 protein-coding gene gene with protein product NA 8228263 Standard NM_024323 NM_024323 NA Approved MGC11271 uc002mxl.1 Q0VDD7 OTTHUMG00000181851 ENST00000346736.2:c.1269T>C chr19.hg19:g.14000400A>G NA Q13411|Q8N825|Q96D63|Q9BU49 hg19 CCDS12299.1 0.02 16.446837 CCCxGGT COVERED NOVEL C19orf57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457948.1 3 15.647688 KEEP 0 0 0 52 1639 AA 1 1 0 - 12 60 426 0 0 24.439941 428 60 15930 604 ENST00000346736.2 0.027273 1 C19orf57 79173 __UNKNOWN__ __UNKNOWN__ 19 14000870 14000870 __UNKNOWN__ Missense_Mutation SNP C C T rs2305775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14000870C>T ENST00000346736.2 - 6 926 c.799G>A c.(799-801)Gga>Aga p.G267R C19orf57_ENST00000454313.1_Missense_Mutation_p.G267R|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.G267R NM_024323.3 NP_077299.3 Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 267 NA G -> R (in dbSNP:rs2305775). {ECO:0000269|PubMed:15489334}. multicellular organismal development (GO:0007275) breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TGGGGCCCTCCAGGCAGGCCA 0.647 NA C||| 1915 0.382388 0.7005 0.232 5008 , , NA 17154 0.3075 NA 0.2117 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 C ARG/GLY 2723,1683 642.6+/-397.7 843,1037,323 45 44 45 799 1.7 0 19 dbSNP_100 45 1838,6762 325.4+/-316.9 193,1452,2655 yes missense C19orf57 NM_024323.3 125 1036,2489,2978 TT,TC,CC 21.3721,38.1979,35.0684 probably-damaging 267/638 14000870 4561,8445 2203 4300 6503 SO:0001583 missense BC012945 CCDS12299.1 19p13.12 2012-10-26 ENSG00000132016 ENSG00000132016 79173 28153 protein-coding gene gene with protein product NA 8228263 Standard NM_024323 NM_024323 NA Approved MGC11271 uc002mxl.1 Q0VDD7 OTTHUMG00000181851 ENST00000346736.2:c.799G>A chr19.hg19:g.14000870C>T ENSP00000254336:p.Gly267Arg NA Q13411|Q8N825|Q96D63|Q9BU49 hg19 CCDS12299.1 0.02 14.343292 CTCxAGG COVERED 767 0.35119047619047616 330 0.6707317073170732 81 0.22375690607734808 195 0.3409090909090909 161 0.21240105540897097 C 13.44 2.236897 0.39498 0.618021 0.213721 ENSG00000132016 ENST00000454313;ENST00000346736 T;T 0.30981 1.51;1.51 2.86 1.72 0.24424 . 1.545910 0.04576 N 0.394047 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B;P 0.51791 0.22;0.948 B;P 0.54140 0.028;0.743 T 0.43877 -0.9364 9 0.13108 T 0.6 3.3121 7.3728 0.26810 0.0:0.7258:0.2742:0.0 rs2305775;rs59881652;rs2305775 267;267 Q0VDD7-2;Q0VDD7 .;CS057_HUMAN R 267 ENSP00000404382:G267R;ENSP00000254336:G267R ENSP00000254336:G267R G - 1 0 C19orf57 13861870 0.000000 0.05858 0.004000 0.12327 0.174000 0.22865 -0.199000 0.09491 0.464000 0.27142 0.313000 0.20887 GGA NOVEL C19orf57-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457948.1 3 14.145267 KEEP 0 0 0 47 1630 CC 1 1 0 - 10 60 367 0 0 21.230481 385 60 14385 508 ENST00000346736.2 0.025316 1 RLN3 117579 __UNKNOWN__ __UNKNOWN__ 19 14141480 14141480 __UNKNOWN__ Intron SNP A A G rs4263049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14141480A>G ENST00000585987.1 + 3 302 RLN3_ENST00000431365.2_Intron Q8WXF3 REL3_HUMAN relaxin 3 NA NA extracellular region (GO:0005576) endometrium(1)|lung(4) 5 TGGGTGCAGCAGCAGCTGAGC 0.512 NA G||| 2298 0.458866 0.7814 0.2622 5008 , , NA 21440 0.377 NA 0.2197 False NA ,,, NA NA NA 2504 0.4928 NA NA NA NA 0 G 3151,1255 410.2+/-335.3 1146,859,198 55 61 59 -1.8 0 19 dbSNP_111 59 1932,6668 715.4+/-406.1 213,1506,2581 no intron RLN3 NM_080864.2 1359,2365,2779 GG,GA,AA 22.4651,28.4839,39.082 14141480 5083,7923 2203 4300 6503 SO:0001627 intron_variant AF447451 CCDS12302.1 19p13.2 2013-02-26 2004-11-15 117579 Endogenous ligands 17135 protein-coding gene gene with protein product prorelaxin H3 606855 relaxin 3 (H3) NA Standard NM_080864 NA Approved ZINS4, RXN3, H3 uc002mxw.1 Q8WXF3 ENST00000585987.1:c.303-42A>G chr19.hg19:g.14141480A>G NA Q6UXW5 hg19 CCDS12302.1 0.02 7.931664 AGCxGCA COVERED NOVEL RLN3-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000458530.1 4 12.940131 KEEP 0 0 0 43 1381 AA 1 1 0 + 8 60 273 0 0 15.877995 234 60 8620 345 ENST00000585987.1 0.033058 1 IL27RA 9466 __UNKNOWN__ __UNKNOWN__ 19 14153293 14153293 __UNKNOWN__ Missense_Mutation SNP T T C rs35026308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14153293T>C ENST00000263379.2 + 5 688 c.563T>C c.(562-564)cTg>cCg p.L188P NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 188 Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302) integral component of plasma membrane (GO:0005887) interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888) breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 ACCATACCCCTGACCCCTGTT 0.542 NA OREG0025302 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 710 0.141773 0.0212 0.1311 5008 , , NA 17339 0.2659 NA 0.1968 False NA ,,, NA NA NA 2504 0.1278 NA NA NA Colon(164;1849 1896 4443 37792 47834) NA 0 T PRO/LEU 192,4214 119.6+/-157.3 5,182,2016 113 119 117 563 2.5 0 19 dbSNP_126 117 1606,6994 297.1+/-303.3 153,1300,2847 yes missense IL27RA NM_004843.2 98 158,1482,4863 CC,CT,TT 18.6744,4.3577,13.8244 probably-damaging 188/637 14153293 1798,11208 2203 4300 6503 SO:0001583 missense AF053004 CCDS12303.1 19p13.11 2013-02-11 ENSG00000104998 9466 Interleukins and interleukin receptors, Fibronectin type III domain containing 17290 protein-coding gene gene with protein product T-cell cytokine receptor type 1 605350 NA 9600072, 11057672 Standard NM_004843 NM_004843 NA Approved WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R uc002mxx.4 Q6UWB1 ENST00000263379.2:c.563T>C chr19.hg19:g.14153293T>C ENSP00000263379:p.Leu188Pro 692 A0N0L1|O60624 hg19 CCDS12303.1 0.02 7.338552 CCCxGAC COVERED 352 0.16117216117216118 12 0.024390243902439025 51 0.1408839779005525 147 0.256993006993007 142 0.18733509234828497 T 11.67 1.708448 0.30322 0.043577 0.186744 ENSG00000104998 ENST00000263379 T 0.55413 0.52 4.69 2.52 0.30459 Fibronectin, type III (3);Immunoglobulin-like fold (1); 0.707453 0.11708 N 0.537196 T 0.00012 0.0000 L 0.32530 0.975 0.49915 P 1.7000000000000348E-4 D 0.56968 0.978 P 0.52267 0.694 T 0.08289 -1.0729 9 0.30854 T 0.27 -6.9541 7.5593 0.27843 0.3435:0.0:0.0:0.6565 rs35026308;rs62122121;rs35026308 188 Q6UWB1 I27RA_HUMAN P 188 ENSP00000263379:L188P ENSP00000263379:L188P L + 2 0 IL27RA 14014293 0.040000 0.19996 0.004000 0.12327 0.016000 0.09150 1.225000 0.32551 0.330000 0.23485 -0.333000 0.08304 CTG NOVEL IL27RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458539.1 1 13.539153 KEEP 0 0 0 45 1383 TT 1 1 0 + 7 60 267 0 0 17.740086 144 60 5153 244 ENST00000263379.2 0.046358 1 PALM3 342979 __UNKNOWN__ __UNKNOWN__ 19 14165598 14165598 __UNKNOWN__ Missense_Mutation SNP C C T rs56361194 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14165598C>T ENST00000340790.4 - 6 840 c.841G>A c.(841-843)Gtg>Atg p.V281M NM_001145028.1 NP_001138500.1 A6NDB9 PALM3_HUMAN paralemmin 3 281 Glu-rich. NA negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) ATP binding (GO:0005524) endometrium(1)|kidney(2)|pancreas(1)|skin(1) 5 CTGCCACCCACCCCCTCCCAG 0.647 NA C||| 533 0.10643 0.3366 0.0447 5008 , , NA 15534 0.0129 NA 0.0159 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 C MET/VAL 353,1031 49,255,388 78 76 77 841 -3.7 1 19 dbSNP_129 77 65,3117 1,63,1527 yes missense PALM3 NM_001145028.1 21 50,318,1915 TT,TC,CC 2.0427,25.5058,9.1546 benign 281/674 14165598 418,4148 692 1591 2283 SO:0001583 missense CCDS46001.1 19p13.12 2010-04-15 ENSG00000187867 ENSG00000187867 342979 33274 protein-coding gene gene with protein product NA Standard NM_001145028 NM_001145028 NA Approved uc010xnk.1 A6NDB9 ENST00000340790.4:c.841G>A chr19.hg19:g.14165598C>T ENSP00000344996:p.Val281Met NA hg19 CCDS46001.1 0.02 10.884991 CCAxCCC COVERED 171 0.0782967032967033 147 0.29878048780487804 13 0.03591160220994475 5 0.008741258741258742 6 0.0079155672823219 c 14.79 2.639596 0.47153 0.255058 0.020427 ENSG00000187867 ENST00000340790 T 0.36157 1.27 4.74 -3.69 0.04450 . 0.949363 0.08679 N 0.909731 T 0.00012 0.0000 L 0.46157 1.445 0.58432 P 5.000000000032756E-6 D 0.62365 0.991 P 0.62382 0.901 T 0.09952 -1.0651 9 0.40728 T 0.16 -13.5857 1.1927 0.01868 0.313:0.2043:0.3153:0.1673 rs56361194;rs61749585 281 A6NDB9 PALM3_HUMAN M 281 ENSP00000344996:V281M ENSP00000344996:V281M V - 1 0 PALM3 14026598 0.054000 0.20591 0.984000 0.44739 0.685000 0.39939 -0.237000 0.08990 -0.188000 0.10499 0.484000 0.47621 GTG NOVEL PALM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458540.1 2 9.932283 KEEP 0 0 0 33 1163 CC 0.999998 0.999998 0 - 11 60 385 0 0 24.038984 246 60 9148 348 ENST00000340790.4 0.042802 1 LPHN1 22859 __UNKNOWN__ __UNKNOWN__ 19 14266331 14266331 __UNKNOWN__ Missense_Mutation SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14266331G>T ENST00000340736.6 - 19 3446 c.3149C>A c.(3148-3150)gCg>gAg p.A1050E CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.A1045E NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1050 NA calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129) axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202) carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGCCCCCAGCGCCCAGGATCT 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 39 43 42 NA NA 19 NA 14266331 2203 4300 6503 SO:0001583 missense AB020628 CCDS12307.1, CCDS32928.1 19p13.2 2014-08-08 ENSG00000072071 22859 -, GPCR / Class B : Orphans 20973 protein-coding gene gene with protein product NA 10994649 Standard NM_014921 NM_014921 NA Approved KIAA0821, CIRL1, LEC2 uc010xnn.2 O94910 ENST00000340736.6:c.3149C>A chr19.hg19:g.14266331G>T ENSP00000340688:p.Ala1050Glu NA Q96IE7|Q9BU07|Q9HAR3 hg19 CCDS32928.1 0.02 1.929887 AGCxCCC COVERED . . . . . . . . . . G 16.44 3.123410 0.56613 . . ENSG00000072071 ENST00000340736;ENST00000361434 T;T 0.38240 1.15;1.15 5.03 3.99 0.46301 GPCR, family 2-like (1); 0.060685 0.64402 D 0.000005 T 0.56292 0.1975 M 0.85197 2.74 0.43308 D 0.99531 P;P 0.51057 0.862;0.941 P;P 0.56088 0.77;0.791 T 0.63193 -0.6692 10 0.87932 D 0 . 11.431 0.50041 0.0886:0.0:0.9114:0.0 . 1045;1050 O94910-2;O94910 .;LPHN1_HUMAN E 1050;1045 ENSP00000340688:A1050E;ENSP00000355328:A1045E ENSP00000340688:A1050E A - 2 0 LPHN1 14127331 0.993000 0.37304 0.867000 0.34043 0.504000 0.33889 2.134000 0.42102 1.114000 0.41781 0.561000 0.74099 GCG NOVEL LPHN1-001 KNOWN overlapping_uORF|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000459696.1 1 4.552936 KEEP 0 2 26 25 703 GG 0.999988 0.999988 0 - 12 60 191 0 0 8.262194 123 60 3206 175 ENST00000340736.6 0.088889 1 CD97 976 __UNKNOWN__ __UNKNOWN__ 19 14507307 14507307 __UNKNOWN__ Intron SNP C C T rs62122581 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14507307C>T ENST00000242786.5 + 5 558 CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule NA NA cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218) extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888) breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 AGGAAGACGCCGTGAGGCTGG 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 69 60 63 NA NA 19 NA 14507307 2203 4300 6503 SO:0001627 intron_variant CCDS32929.1, CCDS32930.1, CCDS32931.1 19p13 2014-08-08 2006-03-28 ENSG00000123146 976 CD molecules, -, GPCR / Class B : Orphans 1711 protein-coding gene gene with protein product leukocyte antigen CD97, seven-span transmembrane protein, seven-transmembrane, heterodimeric receptor associated with inflammation, seven transmembrane helix receptor 601211 CD97 antigen NA 7636245, 8786105 Standard NM_078481 NM_078481 NA Approved TM7LN1 uc002myl.3 P48960 ENST00000242786.5:c.478+22C>T chr19.hg19:g.14507307C>T NA A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7 hg19 CCDS32929.1 0.02 11.562188 CGCxGTG COVERED NOVEL CD97-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459821.2 2 18.659105 KEEP 0 0 0 62 2138 CC 1 1 0 + 10 60 368 0 0 23.080632 256 60 8726 419 ENST00000242786.5 0.037594 1 TECR 9524 __UNKNOWN__ __UNKNOWN__ 19 14655865 14655865 __UNKNOWN__ Intron SNP T T C rs7252966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14655865T>C ENST00000215567.5 + 1 152 TECR_ENST00000596164.1_Intron|TECR_ENST00000596073.1_Intron|TECR_ENST00000436007.2_Intron|TECR_ENST00000600083.1_Intron NM_138501.5 NP_612510.1 Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase NA NA cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634) oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627) endometrium(1)|large_intestine(1)|ovary(1) 3 gagttgtttctaagcctctca 0.512 NA .||| 2546 0.508387 0.4297 0.4971 5008 , , NA 18577 0.3006 NA 0.6252 False NA ,,, NA NA NA 2504 0.7168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001416 CCDS12313.1 19p13.12 2014-05-27 2009-07-21 2009-07-21 ENSG00000099797 ENSG00000099797 9524 4551 protein-coding gene gene with protein product 610057 glycoprotein, synaptic 2 SC2, GPSN2 NA 9653160, 12482854 Standard NM_138501 NM_138501 NA Approved TER, MRT14 uc002mza.3 Q9NZ01 ENST00000215567.5:c.15+15342T>C chr19.hg19:g.14655865T>C NA B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0 hg19 CCDS12313.1 0.02 4.382051 TTCxAAG COVERED NOVEL TECR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466000.1 2 11.871128 KEEP 0 1 36 52 1643 TT 1 1 0 + 5 60 186 0 0 11.685567 131 60 4790 242 ENST00000215567.5 0.036765 1 EMR3 84658 __UNKNOWN__ __UNKNOWN__ 19 14736316 14736316 __UNKNOWN__ Silent SNP T T C rs61729083 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14736316T>C ENST00000253673.5 - 15 2008 c.1908A>G c.(1906-1908)tcA>tcG p.S636S EMR3_ENST00000344373.4_Silent_p.S584S|EMR3_ENST00000443157.2_Silent_p.S510S|EMR3_ENST00000599900.1_Silent_p.S421S NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 636 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CACTGGGTTTTGAGTCAGGAC 0.383 NA T||| 436 0.0870607 0.1157 0.0922 5008 , , NA 20317 0.1181 NA 0.0765 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 T 457,3949 215.5+/-234.4 22,413,1768 200 180 187 1908 -0.1 0 19 dbSNP_129 187 546,8054 150.6+/-205.5 17,512,3771 no coding-synonymous EMR3 NM_032571.3 39,925,5539 CC,CT,TT 6.3488,10.3722,7.7118 636/653 14736316 1003,12003 2203 4300 6503 SO:0001819 synonymous_variant AF239764 CCDS12315.1, CCDS74296.1, CCDS74297.1 19p13.1 2014-08-08 ENSG00000131355 84658 -, GPCR / Class B : Orphans 23647 protein-coding gene gene with protein product 606101 NA 11279179, 12975309 Standard NM_032571 XM_005260118 NA Approved uc002mzi.4 Q9BY15 ENST00000253673.5:c.1908A>G chr19.hg19:g.14736316T>C NA hg19 CCDS12315.1 0.02 10.953669 TTTxGAG COVERED NOVEL EMR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466488.1 1 6.619274 KEEP 0 0 0 22 669 TT 0.999879 0.999879 0 - 9 60 330 0 0 20.1533 262 60 9407 333 ENST00000253673.5 0.03321 1 EMR3 84658 __UNKNOWN__ __UNKNOWN__ 19 14749131 14749131 __UNKNOWN__ Missense_Mutation SNP C C T rs146799017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14749131C>T ENST00000253673.5 - 11 1370 c.1270G>A c.(1270-1272)Ggt>Agt p.G424S EMR3_ENST00000344373.4_Missense_Mutation_p.G372S|EMR3_ENST00000443157.2_Missense_Mutation_p.G298S|EMR3_ENST00000599900.1_Missense_Mutation_p.G209S NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 424 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930) NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 TGCAAAGCACCGGCGATGATG 0.577 NA C||| 71 0.0141773 0.0015 0.0 5008 , , NA 20354 0.0655 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 C SER/GLY 1,4405 2.1+/-5.4 0,1,2202 86 69 75 1270 3.3 0 19 dbSNP_134 75 0,8600 0,0,4300 yes missense EMR3 NM_032571.3 56 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 possibly-damaging 424/653 14749131 1,13005 2203 4300 6503 SO:0001583 missense AF239764 CCDS12315.1, CCDS74296.1, CCDS74297.1 19p13.1 2014-08-08 ENSG00000131355 84658 -, GPCR / Class B : Orphans 23647 protein-coding gene gene with protein product 606101 NA 11279179, 12975309 Standard NM_032571 XM_005260118 NA Approved uc002mzi.4 Q9BY15 ENST00000253673.5:c.1270G>A chr19.hg19:g.14749131C>T ENSP00000253673:p.Gly424Ser NA hg19 CCDS12315.1 0.02 13.068393 CACxGGC COVERED 17 0.007783882783882784 0 0.0 0 0.0 17 0.02972027972027972 0 0.0 C 13.94 2.386669 0.42308 2.27E-4 0.0 ENSG00000131355 ENST00000443157;ENST00000253673;ENST00000344373 T;T;T 0.35789 1.29;1.29;1.29 4.33 3.3 0.37823 GPCR, family 2-like (1); . . . . T 0.30727 0.0774 M 0.67397 2.05 0.28969 N 0.889388 D;D;D 0.89917 0.999;0.999;1.0 P;D;D 0.76071 0.84;0.923;0.987 T 0.31641 -0.9936 9 0.66056 D 0.02 . 9.9363 0.41552 0.0:0.9:0.0:0.1 . 298;372;424 E7EW83;Q9BY15-2;Q9BY15 .;.;EMR3_HUMAN S 298;424;372 ENSP00000396208:G298S;ENSP00000253673:G424S;ENSP00000340758:G372S ENSP00000253673:G424S G - 1 0 EMR3 14610131 0.997000 0.39634 0.015000 0.15790 0.009000 0.06853 6.080000 0.71299 1.048000 0.40298 -0.142000 0.14014 GGT NOVEL EMR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466488.1 3 13.241223 KEEP 0 0 0 44 1466 CC 1 1 0 - 11 60 404 0 0 24.775985 315 60 10820 434 ENST00000253673.5 0.033742 1 OR7A5 26659 __UNKNOWN__ __UNKNOWN__ 19 14938421 14938421 __UNKNOWN__ Silent SNP C C G rs62122652 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14938421C>G ENST00000322301.3 - 2 720 c.633G>C c.(631-633)ctG>ctC p.L211L OR7A5_ENST00000594432.1_Silent_p.L211L|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 211 NA detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 GGATCCCAGTCAGGGGACCTC 0.433 NA .||| 183 0.0365415 0.0015 0.0231 5008 , , NA 21784 0.0337 NA 0.0378 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 C 59,4347 56.2+/-92.4 0,59,2144 61 59 60 633 -6.3 0 19 dbSNP_129 60 501,8099 141.6+/-197.9 21,459,3820 no coding-synonymous OR7A5 NM_017506.1 21,518,5964 GG,GC,CC 5.8256,1.3391,4.3057 211/320 14938421 560,12446 2203 4300 6503 SO:0001819 synonymous_variant X64976 CCDS12318.1 19p13.1 2012-08-09 2003-12-09 ENSG00000188269 26659 GPCR / Class A : Olfactory receptors 8368 protein-coding gene gene with protein product olfactory receptor, family 7, subfamily A, member 5 pseudogene NA Standard NM_017506 XM_006722722 NA Approved HTPCR2 uc002mzw.3 Q15622 ENST00000322301.3:c.633G>C chr19.hg19:g.14938421C>G NA B2R682|Q6IFP1|Q96R96 hg19 CCDS12318.1 0.02 22.4022 AGTxAGG COVERED NOVEL OR7A5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466518.1 3 9.930865 KEEP 0 0 0 33 1131 CC 0.999998 0.999998 0 - 21 60 775 0 0 49.122626 511 60 19521 706 ENST00000322301.3 0.039474 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 14963637 14963637 __UNKNOWN__ IGR SNP G G A rs34002624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14963637G>A NA NA OR7A10 (10948 upstream) : OR7A17 (27500 downstream) NA NA NA GCAGGTTCCCGAGCACGGTGA 0.498 NA .||| 1585 0.316494 0.0204 0.3372 5008 , , NA 19210 0.6042 NA 0.3082 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.14963637G>A NA hg19 0.02 4.026764 CCCxAGC COVERED NOVEL 0 0 3.309858 KEEP 0 0 0 11 352 GG 0.993072 0.993072 0 8 60 287 0 0 19.442215 123 60 4471 165 0.061069 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 14974894 14974894 __UNKNOWN__ IGR SNP C C T rs61741191 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14974894C>T NA NA OR7A10 (22205 upstream) : OR7A17 (16243 downstream) NA NA NA AGGATCCCAACGAGAGGACCA 0.478 NA .||| 298 0.0595048 0.0076 0.1167 5008 , , NA 23629 0.0565 NA 0.0437 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.14974894C>T NA hg19 0.02 10.387595 CAAxGAG COVERED 114 0.0521978021978022 5 0.01016260162601626 32 0.08839779005524862 50 0.08741258741258741 27 0.03562005277044855 c 0.052 -1.247097 0.01481 . . ENSG00000172148 ENST00000304105 . . . 2.26 -4.51 0.03483 . 2.403830 0.03057 N 0.155364 T 0.00580 0.0019 . . . 0.20926 N 0.999825 . . . . . . T 0.04855 -1.0922 5 0.36615 T 0.2 . 1.4401 0.02352 0.1487:0.2386:0.1473:0.4654 . . . . I 212 . ENSP00000307397:V212I V - 1 0 OR7A2P 14835894 0.000000 0.05858 0.000000 0.03702 0.081000 0.17604 -6.546000 0.00062 -1.357000 0.02180 -1.043000 0.02367 GTT NOVEL 0 1 8.426871 KEEP 0 0 0 28 963 CC 0.999997 0.999997 0 12 60 442 0 0 28.23402 278 60 10072 362 0.041379 1 OR7A17 26333 __UNKNOWN__ __UNKNOWN__ 19 14991963 14991963 __UNKNOWN__ Missense_Mutation SNP C C A rs10404119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:14991963C>A ENST00000327462.2 - 1 301 c.205G>T c.(205-207)Gca>Tca p.A69S NM_030901.1 NP_112163.1 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, member 17 69 NA A -> S (in dbSNP:rs10404119). integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 12 Ovarian(108;0.203) CAGATGTCTGCAAAGGACAGG 0.512 NA .||| 1661 0.331669 0.118 0.3098 5008 , , NA 16982 0.6052 NA 0.3161 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 C SER/ALA 763,3643 310.0+/-291.3 57,649,1497 99 86 90 205 0.4 0 19 dbSNP_119 90 2565,6035 418.0+/-352.6 383,1799,2118 yes missense OR7A17 NM_030901.1 99 440,2448,3615 AA,AC,CC 29.8256,17.3173,25.5882 benign 69/310 14991963 3328,9678 2203 4300 6503 SO:0001583 missense X64993 CCDS12319.1 19p13.12 2012-08-09 ENSG00000185385 26333 GPCR / Class A : Olfactory receptors 8363 protein-coding gene gene with protein product NA 1370859 Standard NM_030901 NM_030901 NA Approved HTPCRX19 uc010xob.2 O14581 ENST00000327462.2:c.205G>T chr19.hg19:g.14991963C>A ENSP00000328144:p.Ala69Ser NA Q6IFQ6|Q96R98 hg19 CCDS12319.1 0.02 6.267027 CTGxAAA COVERED 744 0.34065934065934067 53 0.10772357723577236 100 0.27624309392265195 341 0.5961538461538461 250 0.32981530343007914 c 7.921 0.738580 0.15642 0.173173 0.298256 ENSG00000185385 ENST00000327462 T 0.03004 4.08 2.74 0.396 0.16309 GPCR, rhodopsin-like superfamily (1); 1.087770 0.07430 N 0.895552 T 0.00012 0.0000 N 0.16478 0.41 0.80722 P 0.0 B 0.19073 0.033 B 0.26969 0.075 T 0.28586 -1.0039 9 0.51188 T 0.08 . 3.6298 0.08127 0.4309:0.438:0.0:0.1311 rs10404119;rs52793167;rs10404119 69 O14581 OR7AH_HUMAN S 69 ENSP00000328144:A69S ENSP00000328144:A69S A - 1 0 OR7A17 14852963 0.000000 0.05858 0.010000 0.14722 0.615000 0.37417 -3.279000 0.00529 0.211000 0.20683 0.395000 0.25975 GCA NOVEL OR7A17-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466523.1 1 5.417856 KEEP 0 0 0 18 649 CC 0.999859 0.999859 0 - 13 60 469 0 0 32.833494 167 60 6379 230 ENST00000327462.2 0.072222 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15003406 15003406 __UNKNOWN__ IGR SNP T T C rs12459463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15003406T>C NA NA OR7A17 (11142 upstream) : OR7C2 (48894 downstream) NA NA NA ACAAAACAGATGTCTGCAAAG 0.517 NA .||| 1496 0.298722 0.0711 0.3141 5008 , , NA 21210 0.5933 NA 0.2783 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15003406T>C NA hg19 0.02 6.787135 AGAxGTC COVERED NOVEL 0 1 5.416192 KEEP 0 0 0 18 568 TT 0.999859 0.999859 0 12 60 423 0 0 28.598498 178 60 6524 246 0.063158 1 OR1I1 126370 __UNKNOWN__ __UNKNOWN__ 19 15198363 15198363 __UNKNOWN__ Missense_Mutation SNP A A C rs76524797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15198363A>C ENST00000209540.2 + 1 573 c.487A>C c.(487-489)Atg>Ctg p.M163L NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 163 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.M163L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 CACCTGCCTCATGGCTCAACT 0.562 NA A||| 180 0.0359425 0.0219 0.0115 5008 , , NA 22294 0.1101 NA 0.0229 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A LEU/MET 131,4275 95.3+/-134.0 5,121,2077 106 99 102 487 3.8 1 19 dbSNP_131 102 111,8489 59.1+/-120.7 1,109,4190 yes missense OR1I1 NM_001004713.1 15 6,230,6267 CC,CA,AA 1.2907,2.9732,1.8607 possibly-damaging 163/356 15198363 242,12764 2203 4300 6503 SO:0001583 missense AC004794 CCDS32937.1 19p13.1 2012-08-09 ENSG00000094661 126370 GPCR / Class A : Olfactory receptors 8207 protein-coding gene gene with protein product NA Standard NM_001004713 NA Approved OR1I1P, OR19-20, OR1I1Q uc010xoe.2 O60431 ENST00000209540.2:c.487A>C chr19.hg19:g.15198363A>C ENSP00000209540:p.Met163Leu NA Q96R92 hg19 CCDS32937.1 0.02 26.84258 CTCxTGG COVERED 92 0.04212454212454213 9 0.018292682926829267 4 0.011049723756906077 58 0.10139860139860139 21 0.027704485488126648 a 8.446 0.851856 0.17034 0.029732 0.012907 ENSG00000094661 ENST00000209540 T 0.00058 8.79 4.79 3.78 0.43462 GPCR, rhodopsin-like superfamily (1); 0.000000 0.38326 U 0.001722 T 0.00012 0.0000 N 0.03115 -0.41 0.50039 P 1.5500000000001624E-4 B 0.34147 0.438 B 0.36030 0.216 T 0.15009 -1.0452 9 0.27082 T 0.32 . 8.4012 0.32588 0.9064:0.0:0.0936:0.0 . 163 O60431 OR1I1_HUMAN L 163 ENSP00000209540:M163L ENSP00000209540:M163L M + 1 0 OR1I1 15059363 0.000000 0.05858 0.991000 0.47740 0.503000 0.33858 0.505000 0.22642 0.875000 0.35847 0.454000 0.30748 ATG NOVEL OR1I1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465665.1 1 20.159186 KEEP 0 0 0 67 2093 AA 1 1 0 + 30 60 1132 1 0 75.956729 564 60 20727 811 ENST00000209540.2 0.050505 1 OR1I1 126370 __UNKNOWN__ __UNKNOWN__ 19 15198720 15198720 __UNKNOWN__ Missense_Mutation SNP A A T rs75323205 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15198720A>T ENST00000209540.2 + 1 930 c.844A>T c.(844-846)Atc>Ttc p.I282F NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 282 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) p.I282F(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 TGGGGTGTTCATCCCCATGCT 0.567 NA A||| 180 0.0359425 0.0219 0.0115 5008 , , NA 21710 0.1101 NA 0.0229 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 1 Substitution - Missense(1) stomach(1) A PHE/ILE 131,4275 95.3+/-134.0 5,121,2077 120 102 108 844 4.6 1 19 dbSNP_131 108 111,8489 59.1+/-120.7 1,109,4190 yes missense OR1I1 NM_001004713.1 21 6,230,6267 TT,TA,AA 1.2907,2.9732,1.8607 probably-damaging 282/356 15198720 242,12764 2203 4300 6503 SO:0001583 missense AC004794 CCDS32937.1 19p13.1 2012-08-09 ENSG00000094661 126370 GPCR / Class A : Olfactory receptors 8207 protein-coding gene gene with protein product NA Standard NM_001004713 NA Approved OR1I1P, OR19-20, OR1I1Q uc010xoe.2 O60431 ENST00000209540.2:c.844A>T chr19.hg19:g.15198720A>T ENSP00000209540:p.Ile282Phe NA Q96R92 hg19 CCDS32937.1 0.02 9.35556 TTCxTCC COVERED 92 0.04212454212454213 9 0.018292682926829267 4 0.011049723756906077 58 0.10139860139860139 21 0.027704485488126648 A 14.20 2.464955 0.43839 0.029732 0.012907 ENSG00000094661 ENST00000209540 T 0.37411 1.2 4.64 4.64 0.57946 GPCR, rhodopsin-like superfamily (1); 0.000000 0.32301 U 0.006289 T 0.02610 0.0079 M 0.73319 2.225 0.32827 P 0.49646599999999996 D 0.76494 0.999 D 0.71184 0.972 T 0.41822 -0.9487 9 0.66056 D 0.02 . 12.0516 0.53509 1.0:0.0:0.0:0.0 . 282 O60431 OR1I1_HUMAN F 282 ENSP00000209540:I282F ENSP00000209540:I282F I + 1 0 OR1I1 15059720 0.000000 0.05858 0.999000 0.59377 0.300000 0.27592 1.341000 0.33907 1.961000 0.56991 0.454000 0.30748 ATC NOVEL OR1I1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465665.1 2 7.523134 KEEP 0 0 0 25 789 AA 0.999931 0.999931 0 + 16 60 594 0 0 42.270853 200 60 7278 289 ENST00000209540.2 0.074074 1 ILVBL 10994 __UNKNOWN__ __UNKNOWN__ 19 15233631 15233631 __UNKNOWN__ Intron SNP G G A rs2074266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15233631G>A ENST00000263383.3 - 6 744 ILVBL_ENST00000534378.1_Intron|ILVBL_ENST00000531635.1_Intron NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740) NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 GGGACAGGGAGGACGCTGAGT 0.632 NA G||| 2251 0.449481 0.3843 0.3746 5008 , , NA 16289 0.5635 NA 0.4404 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 G 1721,2685 517.2+/-369.4 335,1051,817 85 76 79 -0.2 0 19 dbSNP_96 79 4005,4595 554.3+/-386.5 932,2141,1227 no intron ILVBL NM_006844.3 1267,3192,2044 AA,AG,GG 46.5698,39.0604,44.0258 15233631 5726,7280 2203 4300 6503 SO:0001627 intron_variant U61263 CCDS12325.1 19p13.1 2008-07-16 ENSG00000105135 ENSG00000105135 10994 6041 protein-coding gene gene with protein product acetolactate synthase homolog 605770 NA 8954801 Standard NM_006844 NM_006844 NA Approved 209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535 uc002nam.3 A1L0T0 OTTHUMG00000165630 ENST00000263383.3:c.605-16C>T chr19.hg19:g.15233631G>A NA O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2 hg19 CCDS12325.1 0.02 13.367914 GGAxGAC COVERED NOVEL ILVBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385439.1 4 20.106516 KEEP 0 4 129 112 4049 GG 1 1 0 - 12 60 421 0 0 24.522363 382 60 13979 648 ENST00000263383.3 0.030457 1 ILVBL 10994 __UNKNOWN__ __UNKNOWN__ 19 15234220 15234220 __UNKNOWN__ Silent SNP G G A rs186722738 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15234220G>A ENST00000263383.3 - 3 442 c.303C>T c.(301-303)gcC>gcT p.A101A ILVBL_ENST00000534378.1_5'UTR|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 101 NA integral component of membrane (GO:0016021)|membrane (GO:0016020) magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740) NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CAGCAAAGACGGCCGTGACCT 0.617 NA g||| 10 0.00199681 0.0 0.0 5008 , , NA 18935 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 89 73 78 NA NA 19 NA 15234220 2203 4300 6503 SO:0001819 synonymous_variant U61263 CCDS12325.1 19p13.1 2008-07-16 ENSG00000105135 ENSG00000105135 10994 6041 protein-coding gene gene with protein product acetolactate synthase homolog 605770 NA 8954801 Standard NM_006844 NM_006844 NA Approved 209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535 uc002nam.3 A1L0T0 OTTHUMG00000165630 ENST00000263383.3:c.303C>T chr19.hg19:g.15234220G>A NA O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2 hg19 CCDS12325.1 0.02 27.644637 GACxGCC COVERED NOVEL ILVBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385439.1 4 47.112433 KEEP 0 1 32 168 5600 GG 1 1 0 - 23 60 863 0 0 54.64901 594 60 20512 934 ENST00000263383.3 0.037277 1 ILVBL 10994 __UNKNOWN__ __UNKNOWN__ 19 15235932 15235932 __UNKNOWN__ Intron SNP G G A rs4141356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15235932G>A ENST00000263383.3 - 2 130 AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Intron|ILVBL_ENST00000531635.1_Intron NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like NA NA integral component of membrane (GO:0016021)|membrane (GO:0016020) magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740) NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 GAACCTCTCCGGAAGAAATCG 0.662 NA G||| 2315 0.46226 0.4531 0.3718 5008 , , NA 15252 0.5486 NA 0.4384 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U61263 CCDS12325.1 19p13.1 2008-07-16 ENSG00000105135 ENSG00000105135 10994 6041 protein-coding gene gene with protein product acetolactate synthase homolog 605770 NA 8954801 Standard NM_006844 NM_006844 NA Approved 209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535 uc002nam.3 A1L0T0 OTTHUMG00000165630 ENST00000263383.3:c.10-52C>T chr19.hg19:g.15235932G>A NA O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2 hg19 CCDS12325.1 0.02 11.17073 TCCxGAA COVERED NOVEL ILVBL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385439.1 1 28.927334 KEEP 0 1 31 107 3683 GG 1 1 0 - 9 60 340 0 0 21.165591 261 60 9001 481 ENST00000263383.3 0.033333 1 NOTCH3 4854 __UNKNOWN__ __UNKNOWN__ 19 15303225 15303225 __UNKNOWN__ Silent SNP G G A rs3815188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15303225G>A ENST00000263388.2 - 3 378 c.303C>T c.(301-303)acC>acT p.T101T NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 101 EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}. NA forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) calcium ion binding (GO:0005509) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGAATCGGGCGGTGCCAGCCA 0.662 NA G||| 1122 0.224042 0.2496 0.1599 5008 , , NA 15642 0.3899 NA 0.1471 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 G 1119,3279 144,831,1224 22 21 21 303 -2.4 0 19 dbSNP_107 21 1262,7322 103,1056,3133 no coding-synonymous NOTCH3 NM_000435.2 247,1887,4357 AA,AG,GG 14.7018,25.4434,18.3408 101/2322 15303225 2381,10601 2199 4292 6491 SO:0001819 synonymous_variant U97669 CCDS12326.1 19p13.2-p13.1 2013-01-10 2010-06-24 ENSG00000074181 4854 Ankyrin repeat domain containing 7883 protein-coding gene gene with protein product 600276 Notch (Drosophila) homolog 3, Notch homolog 3 (Drosophila) CADASIL NA 7835890 Standard NM_000435 NM_000435 NA Approved CASIL uc002nan.3 Q9UM47 ENST00000263388.2:c.303C>T chr19.hg19:g.15303225G>A NA Q9UEB3|Q9UPL3|Q9Y6L8 hg19 CCDS12326.1 0.02 10.183283 GGCxGTG COVERED NOVEL NOTCH3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465714.1 1 17.085276 KEEP 0 1 26 66 2229 GG 1 1 0 - 18 60 596 0 0 39.538129 251 60 8702 429 ENST00000263388.2 0.066914 1 AKAP8 10270 __UNKNOWN__ __UNKNOWN__ 19 15480950 15480950 __UNKNOWN__ Intron SNP T T G rs144668817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15480950T>G ENST00000269701.2 - 8 1133 NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 NA NA mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165) condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 GACACGGTGATGCCTACCTCT 0.592 NA t||| 50 0.00998403 0.0 0.0 5008 , , NA 19262 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA GBM(190;1671 2163 3274 27186 30476) NA 0 T 0,4406 0,0,2203 132 107 116 -6.1 0 19 dbSNP_134 116 1,8599 1.2+/-3.3 0,1,4299 no intron AKAP8 NM_005858.3 0,1,6502 GG,GT,TT 0.0116,0.0,0.0077 15480950 1,13005 2203 4300 6503 SO:0001627 intron_variant Y11997 CCDS12329.1 19p13.12 2012-05-16 ENSG00000105127 ENSG00000105127 10270 A-kinase anchor proteins 378 protein-coding gene gene with protein product A-kinase anchor protein, 95kDa 604692 NA 9473338 Standard NM_005858 NM_005858 NA Approved AKAP95, DKFZp586B1222 uc002nav.3 O43823 ENST00000269701.2:c.1072+6A>C chr19.hg19:g.15480950T>G NA hg19 CCDS12329.1 0.02 8.883069 TGAxGCC COVERED NOVEL AKAP8-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461293.3 1 21.047103 KEEP 0 0 0 70 2151 TT 1 1 0 - 9 60 335 0 0 21.608743 204 60 7466 360 ENST00000269701.2 0.042254 1 AKAP8 10270 __UNKNOWN__ __UNKNOWN__ 19 15490485 15490485 __UNKNOWN__ Intron SNP C C T rs57295859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15490485C>T ENST00000269701.2 - 1 80 AC005785.2_ENST00000597164.2_RNA NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 NA NA mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165) condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CCGCACAGAGCCTTCCCTCCC 0.721 NA c||| 748 0.149361 0.0045 0.1801 5008 , , NA 9425 0.3998 NA 0.0944 False NA ,,, NA NA NA 2504 0.1217 NA NA NA GBM(190;1671 2163 3274 27186 30476) NA 0 97,4303 1,95,2104 67 49 55 2.4 0 19 dbSNP_129 55 959,7641 47,865,3388 no intron AKAP8 NM_005858.3 48,960,5492 TT,TC,CC 11.1512,2.2045,8.1231 15490485 1056,11944 2200 4300 6500 SO:0001627 intron_variant Y11997 CCDS12329.1 19p13.12 2012-05-16 ENSG00000105127 ENSG00000105127 10270 A-kinase anchor proteins 378 protein-coding gene gene with protein product A-kinase anchor protein, 95kDa 604692 NA 9473338 Standard NM_005858 NM_005858 NA Approved AKAP95, DKFZp586B1222 uc002nav.3 O43823 ENST00000269701.2:c.19+38G>A chr19.hg19:g.15490485C>T NA hg19 CCDS12329.1 0.02 5.948767 GAGxCTT COVERED NOVEL AKAP8-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461293.3 1 53.845151 KEEP 0 0 0 179 6232 CC 1 1 0 - 14 60 464 0 0 31.22279 182 60 6406 483 ENST00000269701.2 0.071429 1 WIZ 58525 __UNKNOWN__ __UNKNOWN__ 19 15559079 15559079 __UNKNOWN__ Missense_Mutation SNP G G A rs573729299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15559079G>A ENST00000263381.7 - 2 253 c.40C>T c.(40-42)Cgt>Tgt p.R14C WIZ_ENST00000389282.4_Missense_Mutation_p.R14C NM_021241.2 NP_067064.2 O95785 WIZ_HUMAN widely interspaced zinc finger motifs 842 NA positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 CCTTGGGGACGATCTGGTGCA 0.657 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 17067 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 40 44 43 NA NA 19 NA 15559079 1920 4125 6045 SO:0001583 missense AK091183 CCDS42516.1 19p13.12 2012-10-05 2007-01-18 ENSG00000011451 ENSG00000011451 58525 Zinc fingers, C2H2-type 30917 protein-coding gene gene with protein product WIZ zinc finger NA 9795207, 12226707 Standard NM_021241 NM_021241 NA Approved ZNF803 uc002nbb.4 O95785 ENST00000263381.7:c.40C>T chr19.hg19:g.15559079G>A ENSP00000263381:p.Arg14Cys NA B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1 hg19 CCDS42516.1 0.02 6.840457 GACxATC COVERED . . . . . . . . . . G 14.28 2.487383 0.44249 . . ENSG00000011451 ENST00000389282;ENST00000263381 T 0.03635 3.86 3.12 2.03 0.26663 . . . . . T 0.05090 0.0136 . . . 0.44515 D 0.997462 P 0.48589 0.912 B 0.43809 0.432 T 0.44651 -0.9314 8 0.59425 D 0.04 -5.0466 8.0786 0.30731 0.0:0.2503:0.7497:0.0 . 14 O95785-2 . C 14 ENSP00000373933:R14C ENSP00000263381:R14C R - 1 0 WIZ 15420079 0.373000 0.25073 0.629000 0.29254 0.322000 0.28314 2.589000 0.46145 0.837000 0.34925 0.561000 0.74099 CGT NOVEL WIZ-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000472124.1 1 21.367899 KEEP 0 0 0 71 2446 GG 1 1 0 - 8 60 296 0 0 19.114106 177 60 6171 334 ENST00000263381.7 0.043243 1 RASAL3 64926 __UNKNOWN__ __UNKNOWN__ 19 15565046 15565046 __UNKNOWN__ Silent SNP G G A rs9646651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15565046G>A ENST00000343625.7 - 14 2278 c.2193C>T c.(2191-2193)acC>acT p.T731T NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 731 NA negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020) Ras GTPase activator activity (GO:0005099) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CTCGCAGGATGGTGGGCAGTG 0.607 NA OREG0025322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 643 0.128395 0.2156 0.111 5008 , , NA 17847 0.1141 NA 0.0805 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 G 698,3578 48,602,1488 28 36 33 2193 -0.2 1 19 dbSNP_119 33 608,7862 20,568,3647 no coding-synonymous RASAL3 NM_022904.1 68,1170,5135 AA,AG,GG 7.1783,16.3237,10.2464 731/1012 15565046 1306,11440 2138 4235 6373 SO:0001819 synonymous_variant CCDS46006.1 19p13.12 2008-12-18 ENSG00000105122 ENSG00000105122 64926 26129 protein-coding gene gene with protein product NA 12477932 Standard NM_022904 NM_022904 NA Approved FLJ21438 uc002nbe.2 Q86YV0 ENST00000343625.7:c.2193C>T chr19.hg19:g.15565046G>A 703 Q8N2T9|Q9H735 hg19 CCDS46006.1 0.02 5.929715 GATxGTG COVERED NOVEL RASAL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461331.3 2 11.09624 KEEP 0 2 60 58 1970 GG 1 1 0 - 7 60 245 0 0 15.084353 168 60 6094 298 ENST00000343625.7 0.04 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15691131 15691131 __UNKNOWN__ IGR SNP C C T rs12459480 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15691131C>T NA NA CYP4F23P (6670 upstream) : AD000091.2 (32926 downstream) NA NA NA gaatgctaagcatgtgggagt 0.418 NA .||| 839 0.167532 0.0159 0.1902 5008 , , NA 19383 0.5 NA 0.0736 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15691131C>T NA hg19 0.02 -0.333391 AAGxATG COVERED NOVEL 0 1 2.708983 KEEP 0 0 0 9 332 CC 0.99254 0.845628 0 3 60 107 0 0 7.574425 35 60 1368 61 0.078947 0.851984 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15754893 15754893 __UNKNOWN__ Intron SNP A A G rs2203998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15754893A>G ENST00000221307.8 + 3 245 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GGTGGGTGCTATGGTGCATTT 0.557 NA .||| 2625 0.524161 0.6611 0.5648 5008 , , NA 19098 0.6954 NA 0.3499 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.199-1636A>G chr19.hg19:g.15754893A>G NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 16.815537 GCTxTGG COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 1 16.5471 KEEP 0 0 0 55 1663 AA 1 1 0 + 18 60 692 0 0 46.436191 357 60 12783 551 ENST00000221307.8 0.048 1 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15754975 15754975 __UNKNOWN__ Intron SNP C C T rs2203999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15754975C>T ENST00000221307.8 + 3 245 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CTTTCCTTCTCTCTCAGCCAT 0.522 NA .||| 2614 0.521965 0.6543 0.5634 5008 , , NA 20883 0.6954 NA 0.3499 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.199-1554C>T chr19.hg19:g.15754975C>T NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 5.994194 TCTxTCT COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 1 3.912857 KEEP 0 0 0 13 466 CC 0.994391 0.994391 0 + 9 60 316 0 0 20.406618 170 60 6472 207 ENST00000221307.8 0.050279 1 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15756762 15756762 __UNKNOWN__ Intron SNP G G A rs4239620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15756762G>A ENST00000221307.8 + 3 390 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCAGCGGGTCGCGTGCCCATG 0.602 NA .||| 852 0.170128 0.0212 0.2637 5008 , , NA 18686 0.4692 NA 0.0547 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.343+89G>A chr19.hg19:g.15756762G>A NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 6.097525 GTCxCGT COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 5.718729 KEEP 0 0 0 19 678 GG 0.99986 0.99986 0 + 8 60 283 0 0 18.445977 147 60 5343 192 ENST00000221307.8 0.051613 1 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15757927 15757927 __UNKNOWN__ Intron SNP T T C rs1290626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15757927T>C ENST00000221307.8 + 4 444 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGAGTATCTGTAGGTGAACAG 0.592 NA .||| 3757 0.7502 0.8623 0.745 5008 , , NA 17698 0.8492 NA 0.6233 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 C ,, 3687,719 1545,597,61 77 73 74 ,, -5.3 0 19 dbSNP_87 74 5214,3386 1611,1992,697 no intron,intron,intron CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 3156,2589,758 CC,CT,TT 39.3721,16.3187,31.5624 ,, ,, 15757927 8901,4105 2203 4300 6503 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.397+12T>C chr19.hg19:g.15757927T>C NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 9.14174 CTGxAGG COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 1 4.649334 KEEP 0 1 36 28 871 TT 0.999997 0.999997 0 + 10 60 384 0 0 25.331344 219 60 7669 311 ENST00000221307.8 0.043668 1 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15763721 15763721 __UNKNOWN__ Silent SNP G G A rs1805042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15763721G>A ENST00000221307.8 + 9 1121 c.1074G>A c.(1072-1074)gtG>gtA p.V358V CYP4F3_ENST00000585846.1_Silent_p.V358V|CYP4F3_ENST00000591058.1_Silent_p.V358V|CYP4F3_ENST00000586182.2_Silent_p.V358V NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 358 NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) p.V358V(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GGCAGGAGGTGCAAGAGCTTC 0.597 NA .||| 2580 0.515176 0.643 0.5663 5008 , , NA 18400 0.6577 NA 0.3509 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G ,, 2626,1780 800,1026,377 110 90 97 1074,1074,1074 0.2 0.6 19 dbSNP_111 97 3046,5554 551,1944,1805 no coding-synonymous,coding-synonymous,coding-synonymous CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 1351,2970,2182 AA,AG,GG 35.4186,40.3995,43.6106 ,, 358/521,358/521,358/521 15763721 5672,7334 2203 4300 6503 SO:0001819 synonymous_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.1074G>A chr19.hg19:g.15763721G>A NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 4.196841 GGTxCAA COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 5.417396 KEEP 0 0 0 18 635 GG 0.999859 0.999858 0 + 5 60 184 0 0 11.708131 118 60 4240 164 ENST00000221307.8 0.04065 0.999999 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15769270 15769270 __UNKNOWN__ Intron SNP A A C rs4646514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15769270A>C ENST00000221307.8 + 11 1296 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 GGCAGGGAGCATTGTCCTGAC 0.622 NA .||| 2617 0.522564 0.6528 0.5634 5008 , , NA 16522 0.6617 NA 0.3569 False NA ,,, NA NA NA 2504 0.3446 NA NA NA NA 0 C ,, 2657,1749 810,1037,356 102 104 103 ,, -2.9 0 19 dbSNP_111 103 3072,5528 558,1956,1786 no intron,intron,intron CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 1368,2993,2142 CC,CA,AA 35.7209,39.6959,44.0489 ,, ,, 15769270 5729,7277 2203 4300 6503 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.1250-31A>C chr19.hg19:g.15769270A>C NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 11.413975 AGCxTTG COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 5.114659 KEEP 0 0 0 17 513 AA 0.999366 0.999366 0 + 13 60 486 0 0 32.284663 252 60 9053 336 ENST00000221307.8 0.049057 1 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15769379 15769379 __UNKNOWN__ Intron SNP G G C rs562120602|rs4646515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15769379G>C ENST00000221307.8 + 11 1361 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CGGGCCCCCCGTCTCTGTTTT 0.567 NA .||| 2649 0.528954 0.677 0.5634 5008 , , NA 16048 0.6627 NA 0.3569 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 C ,, 2738,1668 866,1006,331 84 97 92 ,, 0.4 0 19 dbSNP_111 92 3043,5555 561,1921,1817 no intron,intron,intron CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 1427,2927,2148 CC,CG,GG 35.392,37.8575,44.4556 ,, ,, 15769379 5781,7223 2203 4299 6502 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.1314+14G>C chr19.hg19:g.15769379G>C NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 4.318016 CCCxTCT COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 2.708891 KEEP 0 0 0 9 321 GG 0.99254 0.99254 0 + 8 60 286 0 0 19.343981 123 60 4380 164 ENST00000221307.8 0.061069 1 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15769478 15769478 __UNKNOWN__ Intron SNP C C T rs4646517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15769478C>T ENST00000221307.8 + 12 1361 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 ACCACTGTCTCTCCAAGGCTG 0.557 NA .||| 1686 0.336661 0.3707 0.4236 5008 , , NA 16520 0.4772 NA 0.1889 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 C ,, 458,926 77,304,311 16 18 17 ,, -1.8 0 19 dbSNP_111 17 606,2576 72,462,1057 no intron,intron,intron CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 149,766,1368 TT,TC,CC 19.0446,33.0925,23.3027 ,, ,, 15769478 1064,3502 692 1591 2283 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.1315-59C>T chr19.hg19:g.15769478C>T NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 1.871844 TCTxTCC COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 3.009823 KEEP 0 0 0 10 353 CC 0.992708 0.992603 0 + 5 60 181 0 0 12.077837 86 60 3305 117 ENST00000221307.8 0.054945 0.999895 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15769529 15769529 __UNKNOWN__ Intron SNP G G T rs4646518|rs386807204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15769529G>T ENST00000221307.8 + 12 1361 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TCTTGGTCTCGCCTCCAGGTC 0.567 NA .||| 2639 0.526957 0.6702 0.562 5008 , , NA 15709 0.6627 NA 0.3569 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 G ,, 2681,1725 855,971,377 64 71 69 ,, -6.2 0 19 dbSNP_111 69 2969,5631 560,1849,1891 no intron,intron,intron CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 1415,2820,2268 TT,TG,GG 34.5233,39.1512,43.4415 ,, ,, 15769529 5650,7356 2203 4300 6503 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.1315-8G>T chr19.hg19:g.15769529G>T NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 3.890481 CTCxCCT COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 4.815285 KEEP 0 0 0 16 542 GG 0.997832 0.997831 0 + 6 60 176 0 0 10.31731 118 60 3992 161 ENST00000221307.8 0.048387 0.999999 CYP4F3 4051 __UNKNOWN__ __UNKNOWN__ 19 15769530 15769530 __UNKNOWN__ Intron SNP C C T rs199944565|rs4646519|rs386807204 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15769530C>T ENST00000221307.8 + 12 1361 CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 NA NA arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CTTGGTCTCGCCTCCAGGTCT 0.567 NA .||| 2625 0.524161 0.6634 0.5591 5008 , , NA 15907 0.6607 NA 0.3559 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 C ,, 2680,1726 854,972,377 65 72 70 ,, 0.8 0 19 dbSNP_111 70 2965,5635 560,1845,1895 no intron,intron,intron CYP4F3 NM_000896.2,NM_001199208.1,NM_001199209.1 ,, 1414,2817,2272 TT,TC,CC 34.4767,39.1739,43.403 ,, ,, 15769530 5645,7361 2203 4300 6503 SO:0001627 intron_variant AB002454 CCDS12332.1, CCDS59362.1 19p13.12 2013-02-21 2003-01-14 ENSG00000186529 ENSG00000186529 4051 Cytochrome P450s 2646 protein-coding gene gene with protein product 601270 cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase) LTB4H NA 8486631, 9539102 Standard NM_000896 NM_000896 NA Approved CYP4F uc010xol.2 Q08477 OTTHUMG00000182374 ENST00000221307.8:c.1315-7C>T chr19.hg19:g.15769530C>T NA B7Z8Z3|O60634|Q5U740 hg19 CCDS12332.1 0.02 4.097918 TCGxCTC COVERED NOVEL CYP4F3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460819.3 0 4.815903 KEEP 0 0 0 16 583 CC 0.997832 0.997831 0 + 6 60 210 0 0 13.460036 117 60 4248 160 ENST00000221307.8 0.04878 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15774975 15774975 __UNKNOWN__ IGR SNP G G T rs7252223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15774975G>T NA NA CYP4F3 (1340 upstream) : CYP4F12 (8591 downstream) NA NA NA CCTGGCTGGGGGAGTATCTGC 0.567 NA .||| 3586 0.716054 0.764 0.7291 5008 , , NA 21023 0.8185 NA 0.6243 False NA ,,, NA NA NA 2504 0.6309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15774975G>T NA hg19 0.02 6.554536 GGGxGAG COVERED NOVEL 0 1 5.71881 KEEP 0 0 0 19 690 GG 0.99986 0.99986 0 8 60 286 0 0 18.373836 164 60 6008 241 0.046512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15775210 15775210 __UNKNOWN__ IGR SNP T T C rs10426584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15775210T>C NA NA CYP4F3 (1575 upstream) : CYP4F12 (8356 downstream) NA NA NA TATTTGAAGCTAAGGTCCTAG 0.493 NA .||| 2496 0.498403 0.6445 0.5836 5008 , , NA 19777 0.5179 NA 0.4165 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15775210T>C NA hg19 0.02 7.517948 AGCxAAG COVERED NOVEL 0 0 3.610856 KEEP 0 0 0 12 374 TT 0.993634 0.993634 0 13 60 501 0 0 36.164039 163 60 5978 230 0.073864 1 CYP4F12 66002 __UNKNOWN__ __UNKNOWN__ 19 15788996 15788996 __UNKNOWN__ Intron SNP G G A rs28523893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15788996G>A ENST00000550308.1 + 3 578 CYP4F12_ENST00000324632.10_Intron NM_023944.3 NP_076433 Q9HCS2 CP4FC_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 12 NA NA arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) Fingolimod(DB08868) ggctatctgggcatcccttag 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB035130 CCDS42517.1 19p13.1 2008-02-05 2003-01-14 ENSG00000186204 ENSG00000186204 66002 Cytochrome P450s 18857 protein-coding gene gene with protein product 611485 cytochrome P450, subfamily IVF, polypeptide 12 NA 11162607 Standard NM_023944 NA Approved uc002nbl.3 Q9HCS2 OTTHUMG00000164477 ENST00000550308.1:c.199-75G>A chr19.hg19:g.15788996G>A NA E7ET51|O60389|Q5JPJ7|Q9HCS1 hg19 CCDS42517.1 0.02 3.611145 TGGxCAT COVERED NOVEL CYP4F12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378938.9 0 6.018399 KEEP 0 0 0 20 706 GG 0.999863 0.999863 0 + 8 60 280 0 0 18.691204 125 60 4410 164 ENST00000550308.1 0.06015 1 CYP4F12 66002 __UNKNOWN__ __UNKNOWN__ 19 15791132 15791132 __UNKNOWN__ Intron SNP T T A rs2074568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15791132T>A ENST00000550308.1 + 4 777 CYP4F12_ENST00000324632.10_Intron NM_023944.3 NP_076433 Q9HCS2 CP4FC_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 12 NA NA arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) Fingolimod(DB08868) GTGAAAGGGGTTGGGGACAAC 0.567 NA .||| 962 0.192093 0.2292 0.1729 5008 , , NA 20007 0.1329 NA 0.165 False NA ,,, NA NA NA 2504 0.2444 NA NA NA NA 0 T 968,3432 122,724,1354 83 87 86 -1.7 0 19 dbSNP_96 86 1582,7014 164,1254,2880 no intron CYP4F12 NM_023944.3 286,1978,4234 AA,AT,TT 18.4039,22.0,19.6214 15791132 2550,10446 2200 4298 6498 SO:0001627 intron_variant AB035130 CCDS42517.1 19p13.1 2008-02-05 2003-01-14 ENSG00000186204 ENSG00000186204 66002 Cytochrome P450s 18857 protein-coding gene gene with protein product 611485 cytochrome P450, subfamily IVF, polypeptide 12 NA 11162607 Standard NM_023944 NA Approved uc002nbl.3 Q9HCS2 OTTHUMG00000164477 ENST00000550308.1:c.397+25T>A chr19.hg19:g.15791132T>A NA E7ET51|O60389|Q5JPJ7|Q9HCS1 hg19 CCDS42517.1 0.02 19.407371 GGGxTGG COVERED NOVEL CYP4F12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378938.9 0 10.617682 KEEP 0 2 44 51 1616 TT 1 1 0 + 18 60 646 0 0 39.938469 459 60 16018 677 ENST00000550308.1 0.037736 1 OR10H2 26538 __UNKNOWN__ __UNKNOWN__ 19 15839459 15839459 __UNKNOWN__ Silent SNP G G A rs11669315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15839459G>A ENST00000305899.3 + 1 626 c.606G>A c.(604-606)ttG>ttA p.L202L NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 202 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCGTGGGCTTGGTATGTATCA 0.517 NA G||| 764 0.152556 0.1278 0.121 5008 , , NA 23239 0.123 NA 0.17 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 G 612,3794 46,520,1637 223 182 196 606 2.3 0 19 dbSNP_120 196 1652,6948 179,1294,2827 no coding-synonymous OR10H2 NM_013939.2 225,1814,4464 AA,AG,GG 19.2093,13.8901,17.4074 202/316 15839459 2264,10742 2203 4300 6503 SO:0001819 synonymous_variant AC004597 CCDS12333.1 19p13.1 2012-08-09 ENSG00000171942 26538 GPCR / Class A : Olfactory receptors 8173 protein-coding gene gene with protein product NA Standard NM_013939 NA Approved uc002nbm.2 O60403 ENST00000305899.3:c.606G>A chr19.hg19:g.15839459G>A NA Q6IFQ1|Q96R58 hg19 CCDS12333.1 0.02 11.037475 CTTxGTA COVERED NOVEL OR10H2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460917.1 3 4.813847 KEEP 0 0 0 16 551 GG 0.997832 0.997832 0 + 10 60 371 0 0 23.626179 241 60 9048 297 ENST00000305899.3 0.039841 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15881909 15881909 __UNKNOWN__ IGR SNP A A G rs4807985 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15881909A>G NA NA LLNLR-249E10.1 (271 upstream) : OR10H5 (22851 downstream) NA NA NA GGATGACGGCATCTGTGAAGT 0.537 NA .||| 784 0.15655 0.152 0.1095 5008 , , NA 20657 0.122 NA 0.164 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15881909A>G NA hg19 0.02 17.207568 GGCxTCT COVERED NOVEL 0 2 9.296508 KEEP 0 2 66 54 1672 AA 1 1 0 14 60 465 0 0 25.803817 464 60 16846 604 0.029289 1 OR10H5 284433 __UNKNOWN__ __UNKNOWN__ 19 15905002 15905002 __UNKNOWN__ Silent SNP T T C rs4808379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15905002T>C ENST00000308940.8 + 1 242 c.144T>C c.(142-144)acT>acC p.T48T NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 48 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 TCATGGCCACTGTCTGGAGCG 0.597 NA .||| 2431 0.485423 0.4433 0.4841 5008 , , NA 19819 0.7907 NA 0.3052 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 C 1909,2497 406,1097,700 205 166 179 144 -6.8 0 19 dbSNP_111 179 2918,5682 510,1898,1892 no coding-synonymous OR10H5 NM_001004466.1 916,2995,2592 CC,CT,TT 33.9302,43.3273,37.1136 48/316 15905002 4827,8179 2203 4300 6503 SO:0001819 synonymous_variant AC011537 CCDS32940.1 19p13.12 2013-09-24 ENSG00000172519 ENSG00000172519 284433 GPCR / Class A : Olfactory receptors 15389 protein-coding gene gene with protein product NA Standard NM_001004466 NA Approved uc010xos.2 Q8NGA6 OTTHUMG00000182284 ENST00000308940.8:c.144T>C chr19.hg19:g.15905002T>C NA Q6IFJ0|Q96R60 hg19 CCDS32940.1 0.02 12.189964 CACxGTC COVERED NOVEL OR10H5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460363.1 1 6.587304 KEEP 0 2 66 45 1379 TT 1 1 0 + 20 60 693 0 0 46.917717 281 60 10359 401 ENST00000308940.8 0.066445 1 OR10H5 284433 __UNKNOWN__ __UNKNOWN__ 19 15905431 15905431 __UNKNOWN__ Silent SNP T T C rs4808381 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15905431T>C ENST00000308940.8 + 1 671 c.573T>C c.(571-573)gaT>gaC p.D191D NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 191 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CCTGTGGAGATGATGTGCTGG 0.572 NA .||| 2284 0.45607 0.3359 0.4784 5008 , , NA 22330 0.7897 NA 0.3052 False NA ,,, NA NA NA 2504 0.4141 NA NA NA NA 0 T 1488,2918 260,968,975 165 130 142 573 -5.6 0 19 dbSNP_111 142 2843,5757 509,1825,1966 no coding-synonymous OR10H5 NM_001004466.1 769,2793,2941 CC,CT,TT 33.0581,33.7721,33.3 191/316 15905431 4331,8675 2203 4300 6503 SO:0001819 synonymous_variant AC011537 CCDS32940.1 19p13.12 2013-09-24 ENSG00000172519 ENSG00000172519 284433 GPCR / Class A : Olfactory receptors 15389 protein-coding gene gene with protein product NA Standard NM_001004466 NA Approved uc010xos.2 Q8NGA6 OTTHUMG00000182284 ENST00000308940.8:c.573T>C chr19.hg19:g.15905431T>C NA Q6IFJ0|Q96R60 hg19 CCDS32940.1 0.02 15.984183 AGAxGAT COVERED NOVEL OR10H5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460363.1 2 5.04798 KEEP 0 1 35 29 885 TT 0.999997 0.999997 0 + 17 60 633 0 0 41.055336 374 60 13639 500 ENST00000308940.8 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15933059 15933059 __UNKNOWN__ IGR SNP A A G rs3761013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15933059A>G NA NA OR10H1 (14123 upstream) : AC004510.3 (4795 downstream) NA NA NA ATGACCTGGAATCTGGCTGAA 0.423 NA .||| 2141 0.427516 0.4327 0.4899 5008 , , NA 15531 0.6181 NA 0.329 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15933059A>G NA hg19 0.02 2.238229 GGAxTCT COVERED NOVEL 0 0 3.31024 KEEP 0 0 0 11 355 AA 0.993072 0.991285 0 4 60 157 0 0 10.851625 70 60 2613 104 0.054054 0.9982 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 15934599 15934599 __UNKNOWN__ IGR SNP C C G rs2285881 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:15934599C>G NA NA OR10H1 (15663 upstream) : AC004510.3 (3255 downstream) NA NA NA AAGCCACATCCTCAAAGGCTG 0.488 NA .||| 2131 0.425519 0.4251 0.4899 5008 , , NA 18456 0.6181 NA 0.329 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.15934599C>G NA hg19 0.02 9.100452 ATCxTCA COVERED NOVEL 0 0 8.427341 KEEP 0 0 0 28 988 CC 0.999997 0.999997 0 12 60 429 0 0 28.634472 199 60 7476 281 0.056872 1 CYP4F11 57834 __UNKNOWN__ __UNKNOWN__ 19 16034519 16034519 __UNKNOWN__ Intron SNP T T A rs3746152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16034519T>A ENST00000402119.4 - 6 1345 CYP4F11_ENST00000248041.8_Intron|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000326742.8_Intron NM_021187.3 NP_067010.3 cytochrome P450, family 4, subfamily F, polypeptide 11 NA NA NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TCAAGCATGTTCCATGGCTCC 0.453 NA .||| 905 0.180711 0.0098 0.1873 5008 , , NA 19888 0.5575 NA 0.0348 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF236085 CCDS12337.1 19p13.1 2011-07-29 2003-01-14 ENSG00000171903 ENSG00000171903 57834 Cytochrome P450s 13265 protein-coding gene gene with protein product 611517 cytochrome P450, subfamily IVF, polypeptide 11 NA 10964514, 9068972 Standard NM_021187 NM_021187 NA Approved uc002nbu.2 Q9HBI6 ENST00000402119.4:c.918+102A>T chr19.hg19:g.16034519T>A NA hg19 CCDS12337.1 0.02 5.797634 TGTxCCA COVERED NOVEL CYP4F11-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460385.2 1 3.008813 KEEP 0 0 0 10 303 TT 0.992708 0.992708 0 - 8 60 266 0 0 16.730911 148 60 5257 171 ENST00000402119.4 0.051282 1 RAB8A 4218 __UNKNOWN__ __UNKNOWN__ 19 16232508 16232508 __UNKNOWN__ Intron SNP A A G rs55692650 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16232508A>G ENST00000300935.3 + 3 458 RAB8A_ENST00000586682.1_Intron NM_005370.4 NP_005361.2 P61006 RAB8A_HUMAN RAB8A, member RAS oncogene family NA NA axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137) endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 8 TCTCCTACTGAGGACAGTTAT 0.493 NA G||| 709 0.141573 0.1944 0.1153 5008 , , NA 21241 0.0387 NA 0.1819 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 G 514,2622 48,418,1102 88 78 81 0.8 0 19 dbSNP_129 81 1343,5821 118,1107,2357 no intron RAB8A NM_005370.4 166,1525,3459 GG,GA,AA 18.7465,16.3903,18.0291 16232508 1857,8443 1568 3582 5150 SO:0001627 intron_variant CCDS12339.1 19p13.2-p13.1 2008-05-14 2004-01-30 2004-01-30 ENSG00000167461 4218 RAB, member RAS oncogene 7007 protein-coding gene gene with protein product 165040 mel transforming oncogene (derived from cell line NK14) MEL NA 1886711, 8408203 Standard NM_005370 NM_005370 NA Approved RAB8 uc002ndn.4 P61006 ENST00000300935.3:c.186-52A>G chr19.hg19:g.16232508A>G NA B4DEK7|P24407|Q6FHV5 hg19 CCDS12339.1 0.02 4.765565 CTGxGGA COVERED NOVEL RAB8A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460186.1 0 9.930999 KEEP 0 0 0 33 1078 AA 0.999998 0.999998 0 + 5 60 193 0 0 12.355482 133 60 4824 214 ENST00000300935.3 0.036232 1 EPS15L1 58513 __UNKNOWN__ __UNKNOWN__ 19 16514771 16514771 __UNKNOWN__ Intron SNP A A G rs873636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16514771A>G ENST00000455140.2 - 15 1495 EPS15L1_ENST00000597937.1_Intron|EPS15L1_ENST00000248070.6_Intron|EPS15L1_ENST00000602009.1_Intron|EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 NA NA endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059) clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GATGTTAAAGAGATTCACAGT 0.473 NA G||| 2353 0.469848 0.7632 0.3919 5008 , , NA 19963 0.4107 NA 0.3072 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 G 3006,1400 435.3+/-344.3 1015,976,212 75 66 69 0.2 0 19 dbSNP_86 69 2598,6002 667.9+/-402.5 412,1774,2114 no intron EPS15L1 NM_021235.1 1427,2750,2326 GG,GA,AA 30.2093,31.7749,43.0878 16514771 5604,7402 2203 4300 6503 SO:0001627 intron_variant AF110265 CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1 19p13.12 2013-01-10 ENSG00000127527 58513 EF-hand domain containing 24634 protein-coding gene gene with protein product NA Standard NM_021235 NM_001258374 NA Approved eps15R uc002ndx.4 Q9UBC2 ENST00000455140.2:c.1429-30T>C chr19.hg19:g.16514771A>G NA A2RRF3|A5PL29|B4DKA3 hg19 CCDS58654.1 0.02 4.130485 AAGxGAT COVERED NOVEL EPS15L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461039.1 1 14.741765 KEEP 0 0 0 49 1519 AA 1 1 0 - 10 60 334 0 0 22.690702 132 60 4890 221 ENST00000455140.2 0.070423 1 EPS15L1 58513 __UNKNOWN__ __UNKNOWN__ 19 16539356 16539356 __UNKNOWN__ Intron SNP C C A rs4808510|rs374317214|rs10665196|rs199767715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16539356C>A ENST00000455140.2 - 8 625 EPS15L1_ENST00000597937.1_Intron|EPS15L1_ENST00000248070.6_Intron|EPS15L1_ENST00000602009.1_Intron|EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 NA NA endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059) clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 ggaagaaagacagaaaagaaa 0.423 NA c||| 2001 0.399561 0.5318 0.2925 5008 , , NA 12727 0.4256 NA 0.3499 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF110265 CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1 19p13.12 2013-01-10 ENSG00000127527 58513 EF-hand domain containing 24634 protein-coding gene gene with protein product NA Standard NM_021235 NM_001258374 NA Approved eps15R uc002ndx.4 Q9UBC2 ENST00000455140.2:c.558+156G>T chr19.hg19:g.16539356C>A NA A2RRF3|A5PL29|B4DKA3 hg19 CCDS58654.1 0.02 1.909598 AGAxAGA COVERED NOVEL EPS15L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461039.1 0 8.727588 KEEP 0 0 0 29 984 CC 0.999997 0.994419 0 - 6 70 213 0 0 15.434623 60 70 2132 102 ENST00000455140.2 0.090909 0.994422 CTD-3222D19.2 0 __UNKNOWN__ __UNKNOWN__ 19 16630994 16630994 __UNKNOWN__ Intron SNP T T G rs78607249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16630994T>G ENST00000409035.1 - 7 1738 CHERP_ENST00000198939.6_Silent_p.R821R|CHERP_ENST00000546361.2_Silent_p.R810R|C19orf44_ENST00000221671.3_3'UTR|CHERP_ENST00000544299.1_5'UTR NA NA NA GACCGGCGTCTTCTTCCTGGG 0.642 NA T||| 66 0.0131789 0.0 0.0 5008 , , NA 13930 0.0645 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 45 51 49 NA NA 19 NA 16630994 1947 4130 6077 SO:0001627 intron_variant NA NA NA NA ENST00000409035.1:c.1282-831A>C chr19.hg19:g.16630994T>G NA hg19 0.02 1.479025 GTCxTCT COVERED NOVEL CTD-3222D19.2-001 KNOWN basic|appris_principal|readthrough_transcript|exp_conf nonsense_mediated_decay NA protein_coding OTTHUMT00000461092.1 0 7.520613 KEEP 0 0 0 25 744 TT 0.999931 0.999248 0 - 4 60 131 0 0 8.116711 76 60 2695 176 ENST00000409035.1 0.05 0.999317 SMIM7 79086 __UNKNOWN__ __UNKNOWN__ 19 16756182 16756182 __UNKNOWN__ 3'UTR SNP C C T rs4808051 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16756182C>T ENST00000487416.2 - 0 2149 CTC-429P9.4_ENST00000600705.1_Intron|CTC-429P9.4_ENST00000593962.1_Intron NM_024104.3 NP_077009.2 Q9BQ49 SMIM7_HUMAN small integral membrane protein 7 NA NA integral component of membrane (GO:0016021) NA CACCATTCATCTGGCCTGTGA 0.552 NA C||| 815 0.16274 0.2451 0.1124 5008 , , NA 17377 0.2688 NA 0.0706 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025602 CCDS12348.2, CCDS74307.1 19p13.11 2012-10-26 2012-10-26 2012-10-26 ENSG00000214046 ENSG00000214046 79086 28419 protein-coding gene gene with protein product chromosome 19 open reading frame 42 C19orf42 NA 12477932 Standard NM_024104 NM_024104 NA Approved MGC2747 uc002ner.3 Q9BQ49 OTTHUMG00000149895 ENST00000487416.2:c.*1875G>A chr19.hg19:g.16756182C>T NA A8MX44 hg19 CCDS12348.2 0.02 6.287033 CATxTGG COVERED NOVEL SMIM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313801.2 1 9.931493 KEEP 0 0 0 33 1150 CC 0.999998 0.999998 0 - 6 60 216 0 0 13.406498 151 60 5732 225 ENST00000487416.2 0.038217 1 TMEM38A 79041 __UNKNOWN__ __UNKNOWN__ 19 16790859 16790859 __UNKNOWN__ Silent SNP C C T rs730120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16790859C>T ENST00000187762.2 + 2 280 c.189C>T c.(187-189)ttC>ttT p.F63F NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 63 NA extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017) potassium channel activity (GO:0005267) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 TGCATTGCTTCGGGAGCTACA 0.607 NA C||| 556 0.111022 0.0817 0.085 5008 , , NA 20208 0.2718 NA 0.0557 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 C 408,3998 200.8+/-224.0 19,370,1814 65 49 54 189 -4.5 1 19 dbSNP_86 54 415,8185 129.0+/-187.1 6,403,3891 no coding-synonymous TMEM38A NM_024074.1 25,773,5705 TT,TC,CC 4.8256,9.2601,6.3278 63/300 16790859 823,12183 2203 4300 6503 SO:0001819 synonymous_variant AK025981 CCDS12349.1 19p13.11 2013-05-23 ENSG00000072954 79041 28462 protein-coding gene gene with protein product 611235 NA 17611541 Standard NM_024074 NM_024074 NA Approved MGC3169, TRIC-A uc002nes.3 Q9H6F2 ENST00000187762.2:c.189C>T chr19.hg19:g.16790859C>T NA A8K9P9 hg19 CCDS12349.1 0.02 6.678695 CTTxGGG COVERED NOVEL TMEM38A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462841.1 0 8.359993 KEEP 0 1 26 37 1244 CC 1 1 0 + 8 60 295 0 0 19.575587 150 60 5504 239 ENST00000187762.2 0.050633 1 NWD1 284434 __UNKNOWN__ __UNKNOWN__ 19 16855265 16855265 __UNKNOWN__ Missense_Mutation SNP A A G rs812847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:16855265A>G ENST00000524140.2 + 5 650 c.232A>G c.(232-234)Att>Gtt p.I78V NWD1_ENST00000379808.3_Missense_Mutation_p.I78V|NWD1_ENST00000549814.1_Missense_Mutation_p.I78V|NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000552788.1_Missense_Mutation_p.I78V NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 78 NA I -> V (in Ref. 1; CAH18655). {ECO:0000305}. ATP binding (GO:0005524) NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCCCTGTCTGATTCCCTCGCG 0.542 NA G||| 3016 0.602236 0.8389 0.621 5008 , , NA 21068 0.4276 NA 0.505 False NA ,,, NA NA NA 2504 0.5491 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BX648940 CCDS32945.1, CCDS32945.2 19p13.11 2013-01-09 ENSG00000188039 284434 WD repeat domain containing 27619 protein-coding gene gene with protein product NA Standard NM_001007525 NM_001007525 NA Approved uc002neu.4 Q149M9 ENST00000524140.2:c.232A>G chr19.hg19:g.16855265A>G ENSP00000428579:p.Ile78Val NA C9J021|Q68CT3 hg19 CCDS32945.2 0.02 8.51327 CTGxTTC COVERED 1213 0.5554029304029304 387 0.7865853658536586 214 0.5911602209944752 240 0.4195804195804196 372 0.49076517150395776 N 0.003 -2.506868 0.00155 . . ENSG00000188039 ENST00000524140;ENST00000549814;ENST00000379808;ENST00000552788 T;T;T;T 0.58358 0.34;0.4;0.34;0.39 5.06 -2.1 0.07210 . 0.550372 0.16872 N 0.196074 T 0.00012 0.0000 N 0.05306 -0.075 0.47737 P 4.969999999999697E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.42344 -0.9457 9 0.02654 T 1 -10.7983 0.9132 0.01299 0.3396:0.2859:0.2292:0.1453 rs812847;rs17502055;rs58028602;rs812847 78 Q149M9-3 . V 78 ENSP00000428579:I78V;ENSP00000447548:I78V;ENSP00000369136:I78V;ENSP00000447224:I78V ENSP00000369136:I78V I + 1 0 NWD1 16716265 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.410000 0.07151 -0.096000 0.12329 -1.516000 0.00938 ATT NOVEL NWD1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000379040.3 2 3.179607 KEEP 0 2 76 37 1136 AA 1 1 0 + 7 60 258 0 0 15.358732 237 60 8520 345 ENST00000524140.2 0.028689 1 F2RL3 9002 __UNKNOWN__ __UNKNOWN__ 19 17000131 17000131 __UNKNOWN__ Intron SNP G G A rs773904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17000131G>A ENST00000248076.3 + 1 439 F2RL3_ENST00000599210.1_Intron NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 NA NA blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) thrombin receptor activity (GO:0015057) cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TGGCTTTGGGGTGCAGAGATG 0.667 NA G||| 1801 0.359625 0.7315 0.304 5008 , , NA 15335 0.1736 NA 0.1998 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 G 2814,1550 925,964,293 22 24 24 -0.2 0 19 dbSNP_86 24 1709,6861 182,1345,2758 no intron F2RL3 NM_003950.2 1107,2309,3051 AA,AG,GG 19.9417,35.5179,34.9698 17000131 4523,8411 2182 4285 6467 SO:0001627 intron_variant AF055917 CCDS12350.1 19p12 2012-08-08 9002 GPCR / Class A : Protease activated receptors 3540 protein-coding gene gene with protein product proteinase-activated receptor-4 602779 NA 9618465 Standard XM_005260139 NA Approved PAR4 uc002nfa.3 Q96RI0 ENST00000248076.3:c.109+22G>A chr19.hg19:g.17000131G>A NA O76067|Q6DK42 hg19 CCDS12350.1 0.02 6.372791 GGGxTGC COVERED NOVEL F2RL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462875.1 2 13.512229 KEEP 0 2 57 65 2342 GG 1 1 0 + 8 60 272 0 0 17.05025 162 60 6045 314 ENST00000248076.3 0.047059 1 F2RL3 9002 __UNKNOWN__ __UNKNOWN__ 19 17000632 17000632 __UNKNOWN__ Missense_Mutation SNP G G A rs773902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17000632G>A ENST00000248076.3 + 2 688 c.358G>A c.(358-360)Gct>Act p.A120T F2RL3_ENST00000599210.1_3'UTR NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 120 NA A -> T (in dbSNP:rs773902). {ECO:0000269|PubMed:9618465, ECO:0000269|PubMed:9716134, ECO:0000269|PubMed:9722561}. blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) thrombin receptor activity (GO:0015057) cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAACCTCGCGGCTGCTGACCT 0.741 NA G||| 1713 0.342053 0.615 0.2911 5008 , , NA 14611 0.2371 NA 0.2058 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 G THR/ALA 2354,1990 672,1010,490 11 10 11 358 0.9 0 19 dbSNP_86 11 1691,6781 190,1311,2735 yes missense F2RL3 NM_003950.2 58 862,2321,3225 AA,AG,GG 19.9599,45.8103,31.5621 benign 120/386 17000632 4045,8771 2172 4236 6408 SO:0001583 missense AF055917 CCDS12350.1 19p12 2012-08-08 9002 GPCR / Class A : Protease activated receptors 3540 protein-coding gene gene with protein product proteinase-activated receptor-4 602779 NA 9618465 Standard XM_005260139 NA Approved PAR4 uc002nfa.3 Q96RI0 ENST00000248076.3:c.358G>A chr19.hg19:g.17000632G>A ENSP00000248076:p.Ala120Thr NA O76067|Q6DK42 hg19 CCDS12350.1 0.02 10.298104 GCGxCTG COVERED 647 0.29624542124542125 263 0.5345528455284553 108 0.2983425414364641 130 0.22727272727272727 146 0.19261213720316622 G 8.642 0.896247 0.17686 0.541897 0.199599 ENSG00000127533 ENST00000248076 T 0.37752 1.18 4.3 0.917 0.19380 GPCR, rhodopsin-like superfamily (1); 0.571113 0.15977 U 0.235519 T 0.00012 0.0000 L 0.50333 1.59 0.80722 P 0.0 B 0.33135 0.399 B 0.40782 0.34 T 0.45920 -0.9228 9 0.36615 T 0.2 . 5.4574 0.16598 0.244:0.0:0.6162:0.1398 rs773902;rs936378;rs58632682;rs773902 120 Q96RI0 PAR4_HUMAN T 120 ENSP00000248076:A120T ENSP00000248076:A120T A + 1 0 F2RL3 16861632 0.002000 0.14202 0.001000 0.08648 0.142000 0.21351 1.267000 0.33050 0.003000 0.14656 -0.336000 0.08194 GCT NOVEL F2RL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462875.1 1 34.879015 KEEP 0 0 0 116 4115 GG 1 1 0 + 11 60 372 0 0 22.826922 244 60 8871 474 ENST00000248076.3 0.043137 1 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17088299 17088299 __UNKNOWN__ Missense_Mutation SNP T T C rs1824152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17088299T>C ENST00000443236.1 - 15 1809 c.1778A>G c.(1777-1779)cAt>cGt p.H593R CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 546 NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CACGGCCAGATGAAGAGAGGT 0.592 NA t||| 2839 0.566893 0.9213 0.3963 5008 , , NA 17909 0.5625 NA 0.3777 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 C ARG/HIS 3115,813 1259,597,108 39 45 43 1778 -5.2 0 19 dbSNP_92 43 2825,5453 475,1875,1789 no missense CPAMD8 NM_015692.2 29 1734,2472,1897 CC,CT,TT 34.1266,20.6976,48.6646 benign 593/1933 17088299 5940,6266 1964 4139 6103 SO:0001583 missense AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.1778A>G chr19.hg19:g.17088299T>C ENSP00000402505:p.His593Arg NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 3.930446 AGAxGAA COVERED 1126|1126 0.5155677655677655|0.5155677655677655 415|415 0.8434959349593496|0.8434959349593496 136|136 0.3756906077348066|0.3756906077348066 306|306 0.534965034965035|0.534965034965035 269|269 0.3548812664907652|0.3548812664907652 t|t 0.001|0.001 -2.964973|-2.964973 0.00049|0.00049 0.793024|0.793024 0.341266|0.341266 ENSG00000160111|ENSG00000160111 ENST00000291440|ENST00000443236 .|. .|. .|. 2.62|2.62 -5.24|-5.24 0.02789|0.02789 Alpha-2-macroglobulin, N-terminal 2 (1);|. 1.028330|. 0.07794|. N|. 0.955448|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.10664|0.10664 0.02|0.02 0.21604|0.21604 P|P 0.999620117|0.999620117 B|. 0.02656|. 0.0|. B|. 0.04013|. 0.001|. T|T 0.10847|0.10847 -1.0612|-1.0612 8|4 0.15066|. T|. 0.55|. .|. 8.2718|8.2718 0.31849|0.31849 0.1001:0.314:0.0:0.5859|0.1001:0.314:0.0:0.5859 rs1824152;rs3745334;rs60607898;rs1824152|rs1824152;rs3745334;rs60607898;rs1824152 546|. Q8IZJ3|. CPMD8_HUMAN|. R|V 593|604 .|. ENSP00000291440:H593R|. H|I -|- 2|1 0|0 CPAMD8|CPAMD8 16949299|16949299 0.003000|0.003000 0.15002|0.15002 0.004000|0.004000 0.12327|0.12327 0.081000|0.081000 0.17604|0.17604 -0.493000|-0.493000 0.06459|0.06459 -3.135000|-3.135000 0.00235|0.00235 -4.516000|-4.516000 0.00005|0.00005 CAT|ATC NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 0 2.708423 KEEP 0 0 0 9 289 TT 0.99254 0.99254 0 - 7 60 234 0 0 14.63746 135 60 4927 186 ENST00000443236.1 0.049296 1 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17091368 17091368 __UNKNOWN__ Silent SNP T T G rs8103646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17091368T>G ENST00000443236.1 - 14 1696 c.1665A>C c.(1663-1665)cgA>cgC p.R555R CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 508 NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCCGCTTGCTTCGCTGCTGGG 0.587 NA T||| 2373 0.473842 0.6475 0.3559 5008 , , NA 17983 0.5506 NA 0.3509 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 T 2244,1706 634,976,365 58 65 63 1665 0.6 1 19 dbSNP_116 63 2636,5682 401,1834,1924 no coding-synonymous CPAMD8 NM_015692.2 1035,2810,2289 GG,GT,TT 31.6903,43.1899,39.7783 555/1933 17091368 4880,7388 1975 4159 6134 SO:0001819 synonymous_variant AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.1665A>C chr19.hg19:g.17091368T>G NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 4.414308 GCTxCGC COVERED 1035 0.4739010989010989 317 0.6443089430894309 133 0.3674033149171271 312 0.5454545454545454 273 0.36015831134564646 T 7.048 0.563842 0.13498 0.568101 0.316903 ENSG00000160111 ENST00000443236 . . . 2.9 0.633 0.17712 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999769414 . . . . . . T 0.43572 -0.9383 3 . . . . 7.1737 0.25732 0.0:0.4272:0.0:0.5728 rs8103646 . . . A 566 . . E - 2 0 CPAMD8 16952368 0.968000 0.33430 0.972000 0.41901 0.565000 0.35776 -0.114000 0.10757 0.105000 0.17753 0.383000 0.25322 GAA NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 0 4.209463 KEEP 0 0 0 14 395 TT 0.995343 0.995342 0 - 6 60 198 0 0 12.403035 115 60 4077 147 ENST00000443236.1 0.049587 0.999999 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17100552 17100552 __UNKNOWN__ Silent SNP A A G rs1973093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17100552A>G ENST00000443236.1 - 13 1468 c.1437T>C c.(1435-1437)ccT>ccC p.P479P CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 432 NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GAGCCCCCACAGGCTTCCCGT 0.607 NA G||| 3047 0.608427 0.8563 0.5043 5008 , , NA 16498 0.629 NA 0.5239 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 G 3096,828 1230,636,96 31 41 38 1437 -5.7 0.1 19 dbSNP_92 38 3989,4297 968,2053,1122 no coding-synonymous CPAMD8 NM_015692.2 2198,2689,1218 GG,GA,AA 48.1414,21.1009,41.9738 479/1933 17100552 7085,5125 1962 4143 6105 SO:0001819 synonymous_variant AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.1437T>C chr19.hg19:g.17100552A>G NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 13.325651 CACxGGC COVERED 1332 0.6098901098901099 417 0.8475609756097561 192 0.5303867403314917 347 0.6066433566433567 376 0.49604221635883905 G 0.021 -1.430601 0.01117 0.788991 0.481414 ENSG00000160111 ENST00000443236 . . . 2.87 -5.73 0.02398 . . . . . T 0.00012 0.0000 . . . 0.23168 P 0.99818347 . . . . . . T 0.19289 -1.0310 3 . . . . 3.5665 0.07901 0.5238:0.1882:0.1938:0.0942 rs1973093;rs59637240 . . . P 490 . . L - 2 0 CPAMD8 16961552 0.023000 0.18921 0.050000 0.19076 0.001000 0.01503 -1.443000 0.02405 -1.715000 0.01389 -2.582000 0.00168 CTG NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 4 9.930911 KEEP 0 0 0 33 1061 AA 0.999998 0.999998 0 - 15 60 467 0 0 26.600401 361 60 13164 526 ENST00000443236.1 0.039894 1 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17108053 17108053 __UNKNOWN__ Missense_Mutation SNP C C T rs12974937 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17108053C>T ENST00000443236.1 - 11 1135 c.1104G>A c.(1102-1104)atG>atA p.M368I CPAMD8_ENST00000388925.4_Missense_Mutation_p.M321I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 321 NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CACTGGTCACCATGGCCCAGA 0.642 NA c||| 893 0.178315 0.3601 0.1009 5008 , , NA 18768 0.1012 NA 0.159 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 C ILE/MET 1167,2641 185,797,922 22 24 23 1104 -4 0 19 dbSNP_121 23 1236,6920 88,1060,2930 no missense CPAMD8 NM_015692.2 10 273,1857,3852 TT,TC,CC 15.1545,30.646,20.0853 benign 368/1933 17108053 2403,9561 1904 4078 5982 SO:0001583 missense AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.1104G>A chr19.hg19:g.17108053C>T ENSP00000402505:p.Met368Ile NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 6.430551 CACxATG COVERED 367|367 0.16804029304029305|0.16804029304029305 164|164 0.3333333333333333|0.3333333333333333 33|33 0.09116022099447514|0.09116022099447514 52|52 0.09090909090909091|0.09090909090909091 118|118 0.15567282321899736|0.15567282321899736 c|c 3.308|3.308 -0.141438|-0.141438 0.06669|0.06669 0.30646|0.30646 0.151545|0.151545 ENSG00000160111|ENSG00000160111 ENST00000291440;ENST00000388925|ENST00000443236 T;T|. 0.50548|. 0.74;0.75|. 3.0|3.0 -3.97|-3.97 0.04094|0.04094 .|. 3.567220|. 0.01429|. N|. 0.014647|. T|. 0.00012|. 0.0000|. N|N 0.02539|0.02539 -0.55|-0.55 0.58432|0.58432 P|P 2.9999999999752447E-6|2.9999999999752447E-6 B|. 0.15141|. 0.012|. B|. 0.12156|. 0.007|. T|. 0.43196|. -0.9406|. 9|. 0.26408|. T|. 0.33|. .|. 1.2097|1.2097 0.01902|0.01902 0.2197:0.3481:0.1087:0.3235|0.2197:0.3481:0.1087:0.3235 rs12974937;rs57120169|rs12974937;rs57120169 321|. Q8IZJ3|. CPMD8_HUMAN|. I|X 368;321|379 ENSP00000291440:M368I;ENSP00000373577:M321I|. ENSP00000291440:M368I|. M|W -|- 3|2 0|0 CPAMD8|CPAMD8 16969053|16969053 0.000000|0.000000 0.05858|0.05858 0.001000|0.001000 0.08648|0.08648 0.083000|0.083000 0.17756|0.17756 -4.497000|-4.497000 0.00225|0.00225 -1.305000|-1.305000 0.02327|0.02327 -1.164000|-1.164000 0.01763|0.01763 ATG|TGG NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 0 3.144338 KEEP 25 1 30 21 725 CC 0.99649 0.99649 0 - 6 40 223 0 0 14.20858 145 45 5356 216 ENST00000443236.1 0.039735 1 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17111297 17111297 __UNKNOWN__ Missense_Mutation SNP A A G rs4808551 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17111297A>G ENST00000443236.1 - 10 966 c.935T>C c.(934-936)aTg>aCg p.M312T CPAMD8_ENST00000388925.4_Missense_Mutation_p.M265T NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 265 NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CATGTTGATCATTAAGGCACC 0.522 NA -||| 3748 0.748403 0.8253 0.7824 5008 , , NA 17345 0.6845 NA 0.832 False NA ,,, NA NA NA 2504 0.6002 NA NA NA NA 0 G THR/MET 3223,647 1330,563,42 50 53 52 935 -2 0 19 dbSNP_111 52 6731,1521 2741,1249,136 yes missense CPAMD8 NM_015692.2 81 4071,1812,178 GG,GA,AA 18.4319,16.7183,17.8848 benign 312/1933 17111297 9954,2168 1935 4126 6061 SO:0001583 missense AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.935T>C chr19.hg19:g.17111297A>G ENSP00000402505:p.Met312Thr NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 3.350371 ATCxTTA COVERED 1621|1621 0.7422161172161172|0.7422161172161172 375|375 0.7621951219512195|0.7621951219512195 281|281 0.7762430939226519|0.7762430939226519 355|355 0.6206293706293706|0.6206293706293706 610|610 0.8047493403693932|0.8047493403693932 -|- 0.001|0.001 -3.651325|-3.651325 0.00006|0.00006 0.832817|0.832817 0.815681|0.815681 ENSG00000160111|ENSG00000160111 ENST00000291440;ENST00000388925|ENST00000443236 T;T|. 0.44482|. 0.92;0.94|. 2.55|2.55 -2.0|-2.0 0.07433|0.07433 .|. 0.644034|. 0.13560|. N|. 0.378831|. T|. 0.00012|. 0.0000|. N|N 0.00275|0.00275 -1.725|-1.725 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|. 0.28808|. -1.0032|. 9|. 0.06891|. T|. 0.86|. .|. 9.7566|9.7566 0.40506|0.40506 0.4724:0.0:0.5276:0.0|0.4724:0.0:0.5276:0.0 rs4808551;rs4808551|rs4808551;rs4808551 265|. Q8IZJ3|. CPMD8_HUMAN|. T|R 312;265|323 ENSP00000291440:M312T;ENSP00000373577:M265T|. ENSP00000291440:M312T|. M|X -|- 2|1 0|0 CPAMD8|CPAMD8 16972297|16972297 0.606000|0.606000 0.26949|0.26949 0.009000|0.009000 0.14445|0.14445 0.001000|0.001000 0.01503|0.01503 0.738000|0.738000 0.26158|0.26158 -0.520000|-0.520000 0.06435|0.06435 -2.912000|-2.912000 0.00091|0.00091 ATG|TGA NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 0 3.911868 KEEP 0 0 0 13 407 AA 0.994391 0.994391 0 - 6 60 192 0 0 11.318988 134 60 4873 175 ENST00000443236.1 0.042857 1 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17113001 17113001 __UNKNOWN__ Intron SNP C C A rs12972329 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17113001C>A ENST00000443236.1 - 9 931 CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 NA NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGGGGAACGACCTTGAGGGAG 0.667 NA N||| 918 0.183307 0.3782 0.098 5008 , , NA 14573 0.1131 NA 0.1461 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.899+74G>T chr19.hg19:g.17113001C>A NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 1.942294 CGAxCTT COVERED NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 0 3.310072 KEEP 0 0 0 11 371 CC 0.993072 0.992697 0 - 7 60 250 0 0 17.842162 78 60 2777 121 ENST00000443236.1 0.082353 0.999622 CPAMD8 27151 __UNKNOWN__ __UNKNOWN__ 19 17113147 17113147 __UNKNOWN__ Silent SNP A A G rs3745345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17113147A>G ENST00000443236.1 - 9 859 c.828T>C c.(826-828)ttT>ttC p.F276F CPAMD8_ENST00000388925.4_Silent_p.F229F NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 229 NA extracellular space (GO:0005615)|plasma membrane (GO:0005886) serine-type endopeptidase inhibitor activity (GO:0004867) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TCAGAAGCTCAAACTTGGGCA 0.597 NA N||| 929 0.185503 0.379 0.0994 5008 , , NA 16169 0.121 NA 0.1471 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 G 1229,2655 185,859,898 29 30 30 828 1.4 0.6 19 dbSNP_107 30 1168,7088 82,1004,3042 yes coding-synonymous CPAMD8 NM_015692.2 267,1863,3940 GG,GA,AA 14.1473,31.6426,19.7446 276/1933 17113147 2397,9743 1942 4128 6070 SO:0001819 synonymous_variant AY101765 CCDS42519.1 19p13.12 2008-02-05 ENSG00000160111 ENSG00000160111 27151 23228 protein-coding gene gene with protein product 608841 NA 10574462 Standard NM_015692 NM_015692 NA Approved KIAA1283, VIP, K-CAP uc002nfb.3 Q8IZJ3 OTTHUMG00000133549 ENST00000443236.1:c.828T>C chr19.hg19:g.17113147A>G NA Q8NC09|Q9ULD7 hg19 CCDS42519.1 0.02 5.915527 CTCxAAC COVERED 392 0.1794871794871795 190 0.3861788617886179 32 0.08839779005524862 61 0.10664335664335664 109 0.1437994722955145 N 1.453 -0.564591 0.03939 0.316426 0.141473 ENSG00000160111 ENST00000443236 . . . 2.46 1.39 0.22231 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.43718 -0.9374 3 . . . . 8.3204 0.32126 0.876:0.0:0.124:0.0 rs3745345;rs58677535;rs3745345 . . . S 287 . . L - 2 0 CPAMD8 16974147 1.000000 0.71417 0.582000 0.28627 0.227000 0.25037 2.475000 0.45162 -0.386000 0.07821 -1.305000 0.01319 TTG NOVEL CPAMD8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257531.2 0 6.920481 KEEP 0 0 0 23 703 AA 0.999892 0.999892 0 - 7 60 248 0 0 15.162156 181 60 6483 259 ENST00000443236.1 0.037234 1 USHBP1 83878 __UNKNOWN__ __UNKNOWN__ 19 17366313 17366313 __UNKNOWN__ Missense_Mutation SNP C C T rs12459398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17366313C>T ENST00000252597.3 - 10 1746 c.1573G>A c.(1573-1575)Gtg>Atg p.V525M USHBP1_ENST00000431146.2_Missense_Mutation_p.V461M NM_031941.3 NP_114147.2 Usher syndrome 1C binding protein 1 NA NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AGCAGGAGCACGTGAGCTGGA 0.701 NA C||| 1348 0.269169 0.3132 0.268 5008 , , NA 14664 0.2788 NA 0.2197 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 C MET/VAL 1348,3058 434.3+/-343.9 197,954,1052 38 40 39 1573 -5.5 0 19 dbSNP_120 39 1750,6850 304.0+/-306.7 165,1420,2715 no missense USHBP1 NM_031941.3 21 362,2374,3767 TT,TC,CC 20.3488,30.5946,23.8198 benign 525/704 17366313 3098,9908 2203 4300 6503 SO:0001583 missense AK096028 CCDS12353.1 19p13.11 2013-06-10 ENSG00000130307 ENSG00000130307 83878 24058 protein-coding gene gene with protein product 611810 NA 11311560 Standard NM_031941 XM_005260093 NA Approved MCC2, AIEBP, FLJ38709 uc002nfs.1 Q8N6Y0 OTTHUMG00000182730 ENST00000252597.3:c.1573G>A chr19.hg19:g.17366313C>T ENSP00000252597:p.Val525Met NA hg19 CCDS12353.1 0.02 6.13589 GCAxGTG COVERED 580 0.26556776556776557 178 0.3617886178861789 87 0.24033149171270718 154 0.2692307692307692 161 0.21240105540897097 C 6.299 0.423219 0.11928 0.305946 0.203488 ENSG00000130307 ENST00000252597;ENST00000431146 T;T 0.17854 2.25;2.25 4.92 -5.46 0.02608 . 2.347010 0.01907 N 0.039582 T 0.00012 0.0000 N 0.22421 0.69 0.58432 P 1.0000000000287557E-6 B;B 0.20671 0.019;0.047 B;B 0.09377 0.004;0.004 T 0.40515 -0.9559 9 0.46703 T 0.11 0.1015 8.5648 0.33534 0.0:0.1432:0.4915:0.3653 rs12459398 461;525 B4DUE8;Q8N6Y0 .;USBP1_HUMAN M 525;461 ENSP00000252597:V525M;ENSP00000407902:V461M ENSP00000252597:V525M V - 1 0 USHBP1 17227313 0.000000 0.05858 0.000000 0.03702 0.020000 0.10135 -1.146000 0.03191 -1.191000 0.02695 -0.882000 0.02950 GTG NOVEL USHBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463328.1 1 18.055199 KEEP 0 0 0 60 2037 CC 1 1 0 - 7 60 256 0 0 15.831465 189 60 6413 312 ENST00000252597.3 0.035714 1 USHBP1 83878 __UNKNOWN__ __UNKNOWN__ 19 17367435 17367435 __UNKNOWN__ Missense_Mutation SNP T T C rs9676419 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17367435T>C ENST00000252597.3 - 9 1488 c.1315A>G c.(1315-1317)Atg>Gtg p.M439V USHBP1_ENST00000431146.2_Missense_Mutation_p.M375V NM_031941.3 NP_114147.2 Usher syndrome 1C binding protein 1 NA NA p.M439V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AGAATCTTCATTAGAGAACGG 0.612 NA C||| 1650 0.329473 0.4735 0.3098 5008 , , NA 18737 0.2758 NA 0.2336 False NA ,,, NA NA NA 2504 0.3027 NA NA NA NA 1 Substitution - Missense(1) prostate(1) C VAL/MET 1957,2449 622.4+/-393.9 428,1101,674 73 73 73 1315 -0.3 0.9 19 dbSNP_119 73 1879,6721 729.3+/-406.7 189,1501,2610 yes missense USHBP1 NM_031941.3 21 617,2602,3284 CC,CT,TT 21.8488,44.4167,29.4941 benign 439/704 17367435 3836,9170 2203 4300 6503 SO:0001583 missense AK096028 CCDS12353.1 19p13.11 2013-06-10 ENSG00000130307 ENSG00000130307 83878 24058 protein-coding gene gene with protein product 611810 NA 11311560 Standard NM_031941 XM_005260093 NA Approved MCC2, AIEBP, FLJ38709 uc002nfs.1 Q8N6Y0 OTTHUMG00000182730 ENST00000252597.3:c.1315A>G chr19.hg19:g.17367435T>C ENSP00000252597:p.Met439Val NA hg19 CCDS12353.1 0.02 7.084166 TCAxTAG COVERED 689 0.31547619047619047 264 0.5365853658536586 103 0.2845303867403315 150 0.26223776223776224 172 0.22691292875989447 C 0.006 -2.114278 0.00349 0.444167 0.218488 ENSG00000130307 ENST00000252597;ENST00000431146 T;T 0.10192 2.9;2.91 4.9 -0.346 0.12620 . 0.309917 0.24128 N 0.041292 T 0.00012 0.0000 N 0.00170 -1.935 0.09310 P 0.99999999854739 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.36817 -0.9732 9 0.02654 T 1 -9.9883 6.3927 0.21595 0.0:0.4031:0.4212:0.1757 rs9676419;rs59052683;rs9676419 375;439 B4DUE8;Q8N6Y0 .;USBP1_HUMAN V 439;375 ENSP00000252597:M439V;ENSP00000407902:M375V ENSP00000252597:M439V M - 1 0 USHBP1 17228435 0.875000 0.30112 0.886000 0.34754 0.011000 0.07611 -0.030000 0.12308 -0.123000 0.11745 -0.119000 0.15052 ATG NOVEL USHBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463328.1 1 12.336052 KEEP 0 0 0 41 1298 TT 1 1 0 - 6 60 231 0 0 14.558867 173 60 6096 278 ENST00000252597.3 0.03352 1 GTPBP3 84705 __UNKNOWN__ __UNKNOWN__ 19 17451981 17451981 __UNKNOWN__ Missense_Mutation SNP G G A rs3745193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17451981G>A ENST00000324894.8 + 8 1171 c.1103G>A c.(1102-1104)cGc>cAc p.R368H GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R390H|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R347H|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R400H NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 368 TrmE-type G. NA R -> H (in dbSNP:rs3745193). {ECO:0000269|PubMed:15489334}. tRNA modification (GO:0006400) mitochondrion (GO:0005739)|nucleus (GO:0005634) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 AGCAGCCAGCGCCTCCTCCTG 0.662 NA G||| 477 0.0952476 0.0023 0.111 5008 , , NA 13930 0.2976 NA 0.0189 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 G HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG 30,4376 36.8+/-68.6 0,30,2173 46 43 44 1040,1169,1103,1199 1.8 1 19 dbSNP_107 44 245,8355 97.9+/-159.5 2,241,4057 yes missense,missense,missense,missense GTPBP3 NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3 29,29,29,29 2,271,6230 AA,AG,GG 2.8488,0.6809,2.1144 benign,benign,benign,benign 347/472,390/515,368/493,400/525 17451981 275,12731 2203 4300 6503 SO:0001583 missense AF360742 CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1 19p13.2 2008-02-05 ENSG00000130299 84705 14880 protein-coding gene gene with protein product 608536 NA 1290633 Standard NM_032620 NM_001128855 NA Approved MSS1, THDF1, GTPBG3, MTGP1, FLJ14700 uc010xpo.2 Q969Y2 ENST00000324894.8:c.1103G>A chr19.hg19:g.17451981G>A ENSP00000313818:p.Arg368His NA A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61 hg19 CCDS32951.1 0.02 3.424998 AGCxCCT COVERED 270 0.12362637362637363 2 0.0040650406504065045 46 0.1270718232044199 202 0.3531468531468531 20 0.026385224274406333 G 15.21 2.767190 0.49574 0.006809 0.028488 ENSG00000130299 ENST00000361619;ENST00000324894;ENST00000358792 T;T;T 0.13657 2.57;2.57;2.57 5.31 1.84 0.25277 GTP-binding domain, HSR1-related (1); 0.321413 0.31531 N 0.007500 T 0.00012 0.0000 L 0.35414 1.06 0.22050 P 0.999397508 B;B;B;B 0.23377 0.028;0.059;0.084;0.069 B;B;B;B 0.22386 0.01;0.039;0.034;0.015 T 0.46624 -0.9178 9 0.59425 D 0.04 -15.2831 4.2285 0.10592 0.2754:0.17:0.5546:0.0 rs3745193;rs17851736;rs3745193 390;368;347;400 A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2 .;GTPB3_HUMAN;.;. H 390;368;400 ENSP00000354598:R390H;ENSP00000313818:R368H;ENSP00000351644:R400H ENSP00000313818:R368H R + 2 0 GTPBP3 17312981 0.100000 0.21855 1.000000 0.80357 0.600000 0.36913 1.530000 0.36007 0.631000 0.30412 0.484000 0.47621 CGC NOVEL GTPBP3-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463624.1 1 19.240151 KEEP 0 0 0 64 2167 GG 1 1 0 + 7 60 226 0 0 13.821943 136 60 4745 247 ENST00000324894.8 0.048951 1 MVB12A 93343 __UNKNOWN__ __UNKNOWN__ 19 17534898 17534898 __UNKNOWN__ Intron SNP C C T rs13345062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17534898C>T ENST00000317040.7 + 7 1757 MVB12A_ENST00000529939.1_Intron|MVB12A_ENST00000528515.1_Intron|MVB12A_ENST00000392702.2_Intron|MVB12A_ENST00000543795.1_Intron Q96EY5 MB12A_HUMAN multivesicular body subunit 12A NA NA protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162) aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982) lipid binding (GO:0008289)|ubiquitin binding (GO:0043130) NA TCTCAGGGAGCCTGGGTCTGC 0.617 NA C||| 1165 0.232628 0.2693 0.1571 5008 , , NA 18322 0.2163 NA 0.1819 False NA ,,, NA NA NA 2504 0.3057 NA NA NA NA 0 C 1147,3259 144,859,1200 49 45 46 -1 0 19 dbSNP_121 46 1269,7331 96,1077,3127 no intron FAM125A NM_138401.2 240,1936,4327 TT,TC,CC 14.7558,26.0327,18.576 17534898 2416,10590 2203 4300 6503 SO:0001627 intron_variant BC011840 CCDS12359.1 19p13.11 2013-10-11 2012-12-03 2012-12-03 ENSG00000141971 ENSG00000141971 93343 25153 protein-coding gene gene with protein product family with sequence similarity 125, member A FAM125A NA 18005716, 20654576, 22232651 Standard NM_138401 NM_138401 NA Approved FLJ32495 uc002ngo.1 Q96EY5 OTTHUMG00000166252 ENST00000317040.7:c.702+22C>T chr19.hg19:g.17534898C>T NA Q96I18 hg19 CCDS12359.1 0.02 6.065455 GAGxCTG COVERED NOVEL MVB12A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000388723.2 1 16.807283 KEEP 0 0 0 56 1896 CC 1 1 0 + 7 60 249 0 0 15.556429 164 60 5922 276 ENST00000317040.7 0.040936 1 NXNL1 115861 __UNKNOWN__ __UNKNOWN__ 19 17566765 17566765 __UNKNOWN__ Silent SNP G G A rs371085748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17566765G>A ENST00000301944.2 - 2 414 c.330C>T c.(328-330)gaC>gaT p.D110D CTD-2521M24.10_ENST00000594663.1_Silent_p.D17D NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 110 Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}. NA photoreceptor cell maintenance (GO:0045494) membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 GGCGCCCGAGGTCCCTGCGGA 0.677 NA G||| 19 0.00379393 0.0 0.0 5008 , , NA 10208 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 11 14 13 NA NA 19 NA 17566765 2055 4082 6137 SO:0001819 synonymous_variant BC014127 CCDS12360.1 19p13.11 2014-05-21 2007-08-16 2007-08-16 ENSG00000171773 ENSG00000171773 115861 25179 protein-coding gene gene with protein product 608791 thioredoxin-like 6 TXNL6 NA 12477932 Standard NM_138454 NM_138454 NA Approved RDCVF uc002ngs.3 Q96CM4 OTTHUMG00000182798 ENST00000301944.2:c.330C>T chr19.hg19:g.17566765G>A NA Q0QD37 hg19 CCDS12360.1 0.02 12.845957 GAGxTCC COVERED NOVEL NXNL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463803.1 2 44.763682 KEEP 0 0 0 149 5272 GG 1 1 0 - 11 60 393 0 0 23.480252 329 60 11935 639 ENST00000301944.2 0.032353 1 COLGALT1 79709 __UNKNOWN__ __UNKNOWN__ 19 17691751 17691751 __UNKNOWN__ Intron SNP C C T rs891184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17691751C>T ENST00000252599.4 + 11 1721 NM_024656.2 NP_078932.2 Q8NBJ5 GT251_HUMAN collagen beta(1-O)galactosyltransferase 1 NA NA extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103) endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020) procollagen galactosyltransferase activity (GO:0050211) NA TGGGGTTTCACGGTGGGTCTG 0.597 NA C||| 1621 0.323682 0.1793 0.3069 5008 , , NA 16473 0.3651 NA 0.4284 False NA ,,, NA NA NA 2504 0.3804 NA NA NA NA 0 C 927,3479 329.9+/-301.2 105,717,1381 23 23 23 -1.5 0 19 dbSNP_86 23 3718,4882 497.7+/-374.6 819,2080,1401 no intron GLT25D1 NM_024656.2 924,2797,2782 TT,TC,CC 43.2326,21.0395,35.7143 17691751 4645,8361 2203 4300 6503 SO:0001627 intron_variant AK075541 CCDS12363.1 19p13.11 2013-02-27 2013-02-27 2013-02-27 ENSG00000130309 ENSG00000130309 79709 26182 protein-coding gene gene with protein product glycosyltransferase 25 domain containing 1 GLT25D1 NA 19075007 Standard NM_024656 NM_024656 NA Approved FLJ22329 uc002nhc.1 Q8NBJ5 ENST00000252599.4:c.1601+37C>T chr19.hg19:g.17691751C>T NA Q8NC64 hg19 CCDS12363.1 0.02 2.089209 TCAxGGT COVERED NOVEL COLGALT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464216.1 0 9.327665 KEEP 0 0 0 31 991 CC 0.999997 0.999859 0 + 5 60 190 0 0 12.976789 86 60 2836 131 ENST00000252599.4 0.054945 0.999862 UNC13A 23025 __UNKNOWN__ __UNKNOWN__ 19 17712374 17712374 __UNKNOWN__ 3'UTR SNP T T C rs3746200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17712374T>C ENST00000519716.2 - 0 9600 UNC13A_ENST00000428389.2_3'UTR|UNC13A_ENST00000252773.7_3'UTR NM_001080421.2 NP_001073890.2 Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) NA NA beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188) axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 AACGTTTTGATTTCACATCTG 0.493 NA T||| 457 0.091254 0.202 0.0533 5008 , , NA 18273 0.0179 NA 0.0974 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028955 CCDS46013.1, CCDS46013.2 19p13.12 2008-02-05 ENSG00000130477 23025 23150 protein-coding gene gene with protein product 609894 NA Standard XM_038604 NM_001080421 NA Approved KIAA1032, Munc13-1 uc031rjv.1 Q9UPW8 ENST00000519716.2:c.*4489A>G chr19.hg19:g.17712374T>C NA E5RHY9 hg19 CCDS46013.2 0.02 4.604859 TGAxTTC COVERED NOVEL UNC13A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000376169.2 0 10.231504 KEEP 0 0 0 34 1098 TT 0.999998 0.999997 0 - 6 60 224 0 0 14.878642 116 60 4191 201 ENST00000519716.2 0.04918 0.999999 UNC13A 23025 __UNKNOWN__ __UNKNOWN__ 19 17741422 17741422 __UNKNOWN__ Intron SNP G G A rs10417445 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17741422G>A ENST00000519716.2 - 29 3525 UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000551649.1_Intron|UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000428389.2_Intron|UNC13A_ENST00000252773.7_Intron NM_001080421.2 NP_001073890.2 Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) NA NA beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188) axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 ATTGACCCCAGTGGGAAGATT 0.502 NA A||| 623 0.124401 0.3313 0.1023 5008 , , NA 18886 0.002 NA 0.0845 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 1124,2716 152,820,948 41 44 43 2.1 0 19 dbSNP_119 43 727,7571 30,667,3452 no intron UNC13A NM_001080421.2 182,1487,4400 AA,AG,GG 8.7611,29.2708,15.2496 17741422 1851,10287 1920 4149 6069 SO:0001627 intron_variant AB028955 CCDS46013.1, CCDS46013.2 19p13.12 2008-02-05 ENSG00000130477 23025 23150 protein-coding gene gene with protein product 609894 NA Standard XM_038604 NM_001080421 NA Approved KIAA1032, Munc13-1 uc031rjv.1 Q9UPW8 ENST00000519716.2:c.3525+40C>T chr19.hg19:g.17741422G>A NA E5RHY9 hg19 CCDS46013.2 0.02 6.009329 CCAxTGG COVERED NOVEL UNC13A-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000376169.2 1 9.029578 KEEP 0 0 0 30 1078 GG 0.999997 0.999997 0 - 6 60 218 0 0 12.966203 194 60 7418 273 ENST00000519716.2 0.03 1 FCHO1 23149 __UNKNOWN__ __UNKNOWN__ 19 17881402 17881402 __UNKNOWN__ Intron SNP G G A rs567199358 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17881402G>A ENST00000596536.1 + 8 772 FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000252771.7_Intron|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000594202.1_Intron NM_015122.2 NP_055937.1 O14526 FCHO1_HUMAN FCH domain only 1 NA NA clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583) coated pit (GO:0005905)|plasma membrane (GO:0005886) AP-2 adaptor complex binding (GO:0035612) NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTCACAGTGGGGGGGTTCTGA 0.617 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 16933 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 25 26 26 NA NA 19 NA 17881402 2203 4300 6503 SO:0001627 intron_variant AB006628 CCDS32955.1, CCDS59365.1, CCDS59366.1 19p13.12 2008-02-05 ENSG00000130475 23149 29002 protein-coding gene gene with protein product 613437 NA 12477932 Standard NM_015122 NM_001161357 NA Approved KIAA0290 uc002nhg.3 O14526 ENST00000596536.1:c.489+16G>A chr19.hg19:g.17881402G>A NA A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22 hg19 CCDS32955.1 0.02 4.287668 TGGxGGG COVERED NOVEL FCHO1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466946.2 0 6.621591 KEEP 0 0 0 22 784 GG 0.999879 0.999878 0 + 5 60 187 0 0 11.989508 119 60 4397 184 ENST00000596536.1 0.040323 0.999999 JAK3 3718 __UNKNOWN__ __UNKNOWN__ 19 17952639 17952639 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:17952639A>C ENST00000527670.1 - 6 891 JAK3_ENST00000526008.1_Intron|JAK3_ENST00000458235.1_Intron|JAK3_ENST00000534444.1_Intron P52333 JAK3_HUMAN Janus kinase 3 NA NA B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 Tofacitinib(DB08895) CCATGAACCCACCCCCAAGCC 0.617 2 Mis acute megakaryocytic leukemia, ETP ALL NA NA NA NA NA NA NA NA NA Dom yes 19 19p13.1 3718 Janus kinase 3 L 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U31601 CCDS12366.1 19p13-p12 2014-09-17 2009-04-23 ENSG00000105639 ENSG00000105639 3718 2.7.10.1 6193 protein-coding gene gene with protein product tyrosine-protein kinase JAK3, leukocyte Janus kinase 600173 NA 8921370, 9226382 Standard NM_000215 NM_000215 NA Approved L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3 uc002nhn.4 P52333 OTTHUMG00000165648 ENST00000527670.1:c.862-68T>G chr19.hg19:g.17952639A>C NA Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2 hg19 CCDS12366.1 0.02 1.73482 CCCxCCC COVERED NOVEL JAK3-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000385549.1 1 2.633821 KEEP 0 1 17 15 379 AA 0.997832 0.971853 0 - 26 60 307 0 0 25.766409 27 60 749 87 ENST00000527670.1 0.490566 0.973965 IL12RB1 3594 __UNKNOWN__ __UNKNOWN__ 19 18186575 18186575 __UNKNOWN__ Silent SNP G G A rs17852635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18186575G>A ENST00000600835.2 - 8 982 c.684C>T c.(682-684)ccC>ccT p.P228P IL12RB1_ENST00000322153.7_Silent_p.P228P|IL12RB1_ENST00000593993.2_Silent_p.P228P P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 228 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165) external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536) cytokine receptor activity (GO:0004896) endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GAACGCACACGGGGCTGCTCC 0.592 NA G||| 1151 0.229832 0.0998 0.1643 5008 , , NA 17094 0.373 NA 0.3111 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 G , 589,3817 260.1+/-263.5 32,525,1646 65 64 64 684,684 -7.2 0.2 19 dbSNP_123 64 2715,5885 433.5+/-357.4 424,1867,2009 no coding-synonymous,coding-synonymous IL12RB1 NM_005535.1,NM_153701.1 , 456,2392,3655 AA,AG,GG 31.5698,13.3681,25.4037 , 228/663,228/382 18186575 3304,9702 2203 4300 6503 SO:0001819 synonymous_variant U03187 CCDS32957.1, CCDS54232.1 19p13.1 2014-09-17 3594 Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing 5971 protein-coding gene gene with protein product 601604 IL12RB NA 9284929 Standard XM_005259893 NA Approved CD212 uc002nhw.1 P42701 ENST00000600835.2:c.684C>T chr19.hg19:g.18186575G>A NA A8K308|B2RPF1|B7ZKK3|Q8N6Q7 hg19 CCDS54232.1 0.02 8.794535 CACxGGG COVERED NOVEL IL12RB1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466525.3 1 12.038804 KEEP 0 0 0 40 1387 GG 1 1 0 - 23 60 864 0 0 64.210631 223 60 7733 355 ENST00000600835.2 0.093496 1 IL12RB1 3594 __UNKNOWN__ __UNKNOWN__ 19 18186618 18186618 __UNKNOWN__ Missense_Mutation SNP T T C rs11575934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18186618T>C ENST00000600835.2 - 8 939 c.641A>G c.(640-642)cAg>cGg p.Q214R IL12RB1_ENST00000322153.7_Missense_Mutation_p.Q214R|IL12RB1_ENST00000593993.2_Missense_Mutation_p.Q214R P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 214 Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA Q -> R (in dbSNP:rs11575934). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165) external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536) cytokine receptor activity (GO:0004896) endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GCTCCCCAGCTGCCGTCGTCG 0.587 NA C||| 1149 0.229433 0.0991 0.1628 5008 , , NA 15532 0.373 NA 0.3111 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 GRCh37 CM984025 IL12RB1 M rs11575934 C ARG/GLN,ARG/GLN 578,3828 762.4+/-413.1 33,512,1658 54 58 56 641,641 1.7 0 19 dbSNP_120 56 2715,5885 671.8+/-402.9 425,1865,2010 yes missense,missense IL12RB1 NM_005535.1,NM_153701.1 43,43 458,2377,3668 CC,CT,TT 31.5698,13.1185,25.3191 benign,benign 214/663,214/382 18186618 3293,9713 2203 4300 6503 SO:0001583 missense U03187 CCDS32957.1, CCDS54232.1 19p13.1 2014-09-17 3594 Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing 5971 protein-coding gene gene with protein product 601604 IL12RB NA 9284929 Standard XM_005259893 NA Approved CD212 uc002nhw.1 P42701 ENST00000600835.2:c.641A>G chr19.hg19:g.18186618T>C ENSP00000470788:p.Gln214Arg NA A8K308|B2RPF1|B7ZKK3|Q8N6Q7 hg19 CCDS54232.1 0.02 12.320251 AGCxGCC COVERED 563 0.25778388278388276 52 0.10569105691056911 72 0.19889502762430938 204 0.35664335664335667 235 0.3100263852242744 C 0.046 -1.267102 0.01433 0.131185 0.315698 ENSG00000096996 ENST00000430026;ENST00000322153 T;D 0.85258 0.42;-1.96 3.96 1.68 0.24146 Immunoglobulin-like fold (1); 0.862795 0.09320 N 0.818308 T 0.00012 0.0000 N 0.00289 -1.7 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.17258 -1.0375 9 0.02654 T 1 -13.2546 5.3217 0.15885 0.0:0.5943:0.0:0.4057 rs11575934;rs17845872;rs17858847;rs17884858 214;214;214 P42701-2;P42701-3;P42701 .;.;I12R1_HUMAN R 214 ENSP00000403103:Q214R;ENSP00000314425:Q214R ENSP00000314425:Q214R Q - 2 0 IL12RB1 18047618 0.000000 0.05858 0.004000 0.12327 0.057000 0.15508 -0.209000 0.09358 0.360000 0.24265 -1.145000 0.01858 CAG NOVEL IL12RB1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466525.3 2 10.53034 KEEP 0 0 0 35 1061 TT 0.999999 0.999999 0 - 25 60 842 0 0 60.933685 228 60 8166 351 ENST00000600835.2 0.098814 1 IL12RB1 3594 __UNKNOWN__ __UNKNOWN__ 19 18186752 18186752 __UNKNOWN__ Intron SNP T T C rs429774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18186752T>C ENST00000600835.2 - 8 879 IL12RB1_ENST00000322153.7_Intron|IL12RB1_ENST00000593993.2_Intron P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 NA NA cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165) external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536) cytokine receptor activity (GO:0004896) endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 aaccatcatgtgcttattgag 0.587 NA C||| 1265 0.252596 0.1823 0.1729 5008 , , NA 19009 0.373 NA 0.3111 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U03187 CCDS32957.1, CCDS54232.1 19p13.1 2014-09-17 3594 Interleukins and interleukin receptors, CD molecules, Fibronectin type III domain containing 5971 protein-coding gene gene with protein product 601604 IL12RB NA 9284929 Standard XM_005259893 NA Approved CD212 uc002nhw.1 P42701 ENST00000600835.2:c.581-74A>G chr19.hg19:g.18186752T>C NA A8K308|B2RPF1|B7ZKK3|Q8N6Q7 hg19 CCDS54232.1 0.02 9.670477 ATGxGCT COVERED NOVEL IL12RB1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466525.3 0 12.333541 KEEP 0 0 0 41 1269 TT 1 1 0 - 19 60 670 0 0 47.340701 218 60 7967 344 ENST00000600835.2 0.080169 1 MAST3 23031 __UNKNOWN__ __UNKNOWN__ 19 18218444 18218444 __UNKNOWN__ Intron SNP A A G rs62123561 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18218444A>G ENST00000262811.6 + 2 71 NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 NA NA ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TTCACCTGGGACTGGCGGGCT 0.517 NA G||| 1606 0.320687 0.2648 0.4121 5008 , , NA 18128 0.3264 NA 0.4453 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G 1023,2877 138,747,1065 91 100 97 -0.7 0 19 dbSNP_129 97 3547,4723 777,1993,1365 no intron MAST3 NM_015016.1 915,2740,2430 GG,GA,AA 42.89,26.2308,37.5514 18218444 4570,7600 1950 4135 6085 SO:0001627 intron_variant AB011133 CCDS46014.1 19p13 2008-02-05 ENSG00000099308 23031 19036 protein-coding gene gene with protein product 612258 NA Standard XM_038150 NM_015016 NA Approved KIAA0561 uc002nhz.4 O60307 ENST00000262811.6:c.71+16A>G chr19.hg19:g.18218444A>G NA Q7LDZ8|Q9UPI0 hg19 CCDS46014.1 0.02 12.231036 GGGxCTG COVERED NOVEL MAST3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466526.2 0 18.720249 KEEP 0 2 71 87 2606 AA 1 1 0 + 17 60 649 0 0 45.296624 259 60 9068 459 ENST00000262811.6 0.061594 1 MAST3 23031 __UNKNOWN__ __UNKNOWN__ 19 18234005 18234005 __UNKNOWN__ Intron SNP G G A rs12611216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18234005G>A ENST00000262811.6 + 6 312 MAST3_ENST00000608648.1_Intron NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 NA NA ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TCATGGCTCTGATCCCCACCA 0.612 NA A||| 445 0.0888578 0.0121 0.1254 5008 , , NA 16546 0.1458 NA 0.1531 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 A 116,4164 2,112,2026 43 44 44 -4.8 0 19 dbSNP_120 44 1235,7257 90,1055,3101 no intron MAST3 NM_015016.1 92,1167,5127 AA,AG,GG 14.5431,2.7103,10.5778 18234005 1351,11421 2140 4246 6386 SO:0001627 intron_variant AB011133 CCDS46014.1 19p13 2008-02-05 ENSG00000099308 23031 19036 protein-coding gene gene with protein product 612258 NA Standard XM_038150 NM_015016 NA Approved KIAA0561 uc002nhz.4 O60307 ENST00000262811.6:c.313-22G>A chr19.hg19:g.18234005G>A NA Q7LDZ8|Q9UPI0 hg19 CCDS46014.1 0.02 10.347162 TCTxATC COVERED NOVEL MAST3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466526.2 2 15.949862 KEEP 0 3 85 83 2879 GG 1 1 0 + 9 60 323 0 0 19.427968 264 60 9927 449 ENST00000262811.6 0.032967 1 PIK3R2 5296 __UNKNOWN__ __UNKNOWN__ 19 18279816 18279816 __UNKNOWN__ Intron SNP A A G rs3746187 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18279816A>G ENST00000593731.1 + 16 2539 PIK3R2_ENST00000222254.8_Intron O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) NA NA blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942) phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 Isoprenaline(DB01064) CATCCGGGACAGGGGAGCACG 0.692 NA A||| 1191 0.237819 0.1762 0.2781 5008 , , NA 11609 0.1865 NA 0.4125 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12371.1 19p13.11 2013-03-28 2008-02-04 ENSG00000105647 ENSG00000105647 5296 SH2 domain containing 8980 protein-coding gene gene with protein product 603157 NA 1314371 Standard NM_005027 NM_005027 NA Approved P85B, p85 uc002nia.2 O00459 OTTHUMG00000183383 ENST00000593731.1:c.1980-81A>G chr19.hg19:g.18279816A>G NA Q5EAT5|Q9UPH9 hg19 CCDS12371.1 0.02 4.594018 GACxGGG COVERED NOVEL PIK3R2-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000466386.2 1 13.237021 KEEP 0 0 0 44 1319 AA 1 1 0 + 5 60 188 0 0 11.729175 141 60 5152 199 ENST00000593731.1 0.034247 1 PIK3R2 5296 __UNKNOWN__ __UNKNOWN__ 19 18281102 18281102 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18281102G>A ENST00000593731.1 + 0 3745 PIK3R2_ENST00000222254.8_3'UTR O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) NA NA blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942) phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 Isoprenaline(DB01064) CCGCCGCAGTGGCCAAGTTGC 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS12371.1 19p13.11 2013-03-28 2008-02-04 ENSG00000105647 ENSG00000105647 5296 SH2 domain containing 8980 protein-coding gene gene with protein product 603157 NA 1314371 Standard NM_005027 NM_005027 NA Approved P85B, p85 uc002nia.2 O00459 OTTHUMG00000183383 ENST00000593731.1:c.*998G>A chr19.hg19:g.18281102G>A NA Q5EAT5|Q9UPH9 hg19 CCDS12371.1 0.02 11.432501 AGTxGCC COVERED NOVEL PIK3R2-001 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000466386.2 6 4.189738 KEEP 19 8 242 99 3457 GG 1 1 0 + 18 60 664 0 0 45.534309 278 60 10558 524 ENST00000593731.1 0.060811 1 GDF15 9518 __UNKNOWN__ __UNKNOWN__ 19 18497141 18497141 __UNKNOWN__ Missense_Mutation SNP T T A rs1059369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18497141T>A ENST00000252809.3 + 1 174 c.142T>A c.(142-144)Tcc>Acc p.S48T NM_004864.2 NP_004855.2 Q99988 GDF15_HUMAN growth differentiation factor 15 48 NA S -> T (in dbSNP:rs1059369). {ECO:0000269|PubMed:9326641, ECO:0000269|PubMed:9348093, ECO:0000269|Ref.5}. cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cytokine activity (GO:0005125) kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 AGAGTTGCACTCCGAAGACTC 0.637 NA T||| 1345 0.26857 0.1762 0.3674 5008 , , NA 13847 0.4236 NA 0.2475 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 T THR/SER 803,3603 318.5+/-295.7 80,643,1480 41 41 41 142 -4.9 0 19 dbSNP_86 41 2049,6551 355.1+/-329.8 258,1533,2509 yes missense GDF15 NM_004864.2 58 338,2176,3989 AA,AT,TT 23.8256,18.2251,21.9283 possibly-damaging 48/309 18497141 2852,10154 2203 4300 6503 SO:0001583 missense BC008962 CCDS12376.1 19p13.11 2008-05-14 ENSG00000130513 9518 30142 protein-coding gene gene with protein product prostate differentiation factor 605312 NA 11895857, 9593718 Standard NM_004864 NM_004864 NA Approved PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB uc002niv.2 Q99988 ENST00000252809.3:c.142T>A chr19.hg19:g.18497141T>A ENSP00000252809:p.Ser48Thr NA O14629|P78360|Q9BWA0|Q9NRT0 hg19 CCDS12376.1 0.02 6.780634 CACxCCG COVERED 624 0.2857142857142857 82 0.16666666666666666 122 0.3370165745856354 233 0.40734265734265734 187 0.24670184696569922 T 19.67 3.870402 0.72065 0.182251 0.238256 ENSG00000130513 ENST00000252809 D 0.82167 -1.58 4.67 -4.94 0.03057 . 1.337000 0.05118 N 0.490127 T 0.00012 0.0000 L 0.56769 1.78 0.80722 P 0.0 P 0.39480 0.675 B 0.37144 0.242 T 0.21280 -1.0250 9 0.10636 T 0.68 . 1.2232 0.01928 0.1384:0.3008:0.2781:0.2827 rs1059369;rs3170465;rs3746177;rs17526140;rs17655466;rs1059369 48 Q99988 GDF15_HUMAN T 48 ENSP00000252809:S48T ENSP00000252809:S48T S + 1 0 GDF15 18358141 0.000000 0.05858 0.000000 0.03702 0.298000 0.27526 0.038000 0.13862 -1.219000 0.02597 0.260000 0.18958 TCC NOVEL GDF15-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466340.2 2 29.114122 KEEP 0 1 29 107 3278 TT 1 1 0 + 11 60 407 0 0 28.284601 158 60 5780 356 ENST00000252809.3 0.065089 1 GDF15 9518 __UNKNOWN__ __UNKNOWN__ 19 18499238 18499238 __UNKNOWN__ Silent SNP G G T rs1804826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18499238G>T ENST00000252809.3 + 2 452 c.420G>T c.(418-420)ccG>ccT p.P140P NM_004864.2 NP_004855.2 Q99988 GDF15_HUMAN growth differentiation factor 15 140 NA cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) cytokine activity (GO:0005125) kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 TGACACGACCGCTGCGGCGTC 0.716 NA OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1323 0.264177 0.1611 0.3573 5008 , , NA 13438 0.4276 NA 0.2475 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 0 G 677,3579 70,537,1521 10 12 12 420 -0.5 0 19 dbSNP_89 12 1879,6511 245,1389,2561 no coding-synonymous GDF15 NM_004864.2 315,1926,4082 TT,TG,GG 22.3957,15.907,20.2119 140/309 18499238 2556,10090 2128 4195 6323 SO:0001819 synonymous_variant BC008962 CCDS12376.1 19p13.11 2008-05-14 ENSG00000130513 9518 30142 protein-coding gene gene with protein product prostate differentiation factor 605312 NA 11895857, 9593718 Standard NM_004864 NM_004864 NA Approved PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB uc002niv.2 Q99988 ENST00000252809.3:c.420G>T chr19.hg19:g.18499238G>T 726 O14629|P78360|Q9BWA0|Q9NRT0 hg19 CCDS12376.1 0.02 8.782859 ACCxCTG COVERED NOVEL GDF15-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466340.2 0 33.476181 KEEP 0 3 96 145 4777 GG 1 1 0 + 11 60 385 0 0 24.55887 225 60 7464 485 ENST00000252809.3 0.04661 1 FKBP8 23770 __UNKNOWN__ __UNKNOWN__ 19 18652844 18652844 __UNKNOWN__ Intron SNP A A G rs10854166 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:18652844A>G ENST00000608443.1 - 2 175 FKBP8_ENST00000222308.4_Intron|FKBP8_ENST00000597960.3_Intron|FKBP8_ENST00000596558.2_Intron|FKBP8_ENST00000453489.2_Intron|FKBP8_ENST00000610101.1_Intron Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa NA NA apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032) endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740) FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 AGAATCCTACACAGCCCCTCA 0.567 NA A||| 1708 0.341054 0.0295 0.5274 5008 , , NA 16034 0.4107 NA 0.4871 False NA ,,, NA NA NA 2504 0.408 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L37033 CCDS32961.1 19p12 2013-01-10 2002-08-29 ENSG00000105701 ENSG00000105701 23770 Tetratricopeptide (TTC) repeat domain containing 3724 protein-coding gene gene with protein product FK506-binding protein 8 (38kD) 604840 FK506-binding protein 8 (38kD) NA 7543869 Standard NM_012181 NM_012181 NA Approved FKBP38, FKBPr38 uc002njj.1 Q14318 ENST00000608443.1:c.25-39T>C chr19.hg19:g.18652844A>G NA C8C9T5|Q53GU3|Q7Z349|Q86YK6 hg19 CCDS32961.1 0.02 3.549491 TACxCAG COVERED NOVEL FKBP8-014 KNOWN alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000471638.1 0 12.803566 KEEP 0 2 73 68 2048 AA 1 1 0 - 5 60 170 0 0 10.028227 135 60 4740 271 ENST00000608443.1 0.035714 1 MEF2B 100271849 __UNKNOWN__ __UNKNOWN__ 19 19256870 19256870 __UNKNOWN__ Intron SNP G G A rs2238663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19256870G>A ENST00000409447.2 - 8 867 MEF2BNB-MEF2B_ENST00000444486.3_Intron|MEF2B_ENST00000410050.1_Intron|MEF2B_ENST00000424583.2_Intron|MEF2B_ENST00000162023.5_Intron|MEF2BNB-MEF2B_ENST00000514819.3_Intron|MEF2B_ENST00000602424.2_Intron|MEF2B_ENST00000409224.1_3'UTR Q02080 MEF2B_HUMAN myocyte enhancer factor 2B NA NA muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) TGAGCTCAGCGAGGAAGGGAA 0.701 NA OREG0025379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1617 0.322883 0.3396 0.3689 5008 , , NA 12412 0.3065 NA 0.3509 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 G , 686,2544 73,540,1002 2 2 2 , -1 0 19 dbSNP_98 2 1469,4809 175,1119,1845 no intron,intron MEF2BNB-MEF2B,MEF2B NM_001145785.1,NM_005919.3 , 248,1659,2847 AA,AG,GG 23.3992,21.2384,22.6651 , , 19256870 2155,7353 1615 3139 4754 SO:0001627 intron_variant X63380 CCDS12394.1, CCDS46024.1 19p13.11 2010-05-12 2007-04-24 100271849 Myocyte enhancer factors 6995 protein-coding gene gene with protein product 600661 NA 1516833, 8575763 Standard NM_005919 NM_001145785 NA Approved RSRFR2 uc002nll.2 Q02080 ENST00000409447.2:c.636-39C>T chr19.hg19:g.19256870G>A 731 A0AV80|B4DVH7|B7ZVY1|G5E9M1 hg19 0.02 1.611044 AGCxAGG COVERED NOVEL MEF2B-006 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336095.3 0 6.018524 KEEP 0 0 0 20 661 GG 0.999863 0.999825 0 - 4 60 135 0 0 8.122652 96 60 3290 145 ENST00000409447.2 0.04 0.999962 NCAN 1463 __UNKNOWN__ __UNKNOWN__ 19 19335083 19335083 __UNKNOWN__ Intron SNP A A G rs2238672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19335083A>G ENST00000252575.6 + 5 749 NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan NA NA axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202) calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) Hyaluronan(DB08818) AGGAGCACACATCTGAGAGGG 0.597 NA A||| 1085 0.216653 0.2247 0.2781 5008 , , NA 16993 0.2063 NA 0.0984 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 A 920,3486 354.4+/-312.6 89,742,1372 130 113 119 -0.5 0 19 dbSNP_98 119 1024,7576 218.5+/-256.9 62,900,3338 no intron NCAN NM_004386.2 151,1642,4710 GG,GA,AA 11.907,20.8806,14.9469 19335083 1944,11062 2203 4300 6503 SO:0001627 intron_variant AF026547 CCDS12397.1 19p12 2014-01-30 2007-02-15 2007-02-15 ENSG00000130287 ENSG00000130287 1463 Immunoglobulin superfamily / V-set domain containing, Proteoglycans / Extracellular Matrix : Hyalectans, Endogenous ligands 2465 protein-coding gene gene with protein product neurocan proteoglycan 600826 chondroitin sulfate proteoglycan 3 CSPG3 NA 1326557, 21353194 Standard NM_004386 NM_004386 NA Approved uc002nlz.3 O14594 ENST00000252575.6:c.651-32A>G chr19.hg19:g.19335083A>G NA Q9UPK6 hg19 CCDS12397.1 0.02 16.792327 CACxTCT COVERED NOVEL NCAN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460111.2 3 15.640253 KEEP 0 0 0 52 1597 AA 1 1 0 + 13 60 469 0 0 27.600784 433 60 15999 582 ENST00000252575.6 0.029148 1 HAPLN4 404037 __UNKNOWN__ __UNKNOWN__ 19 19369435 19369435 __UNKNOWN__ Silent SNP A A G rs2074295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19369435A>G ENST00000291481.7 - 4 777 c.714T>C c.(712-714)agT>agC p.S238S AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 238 Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}. NA cell adhesion (GO:0007155) proteinaceous extracellular matrix (GO:0005578) hyaluronic acid binding (GO:0005540) p.S238S(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) Hyaluronan(DB08818) CGCCCCCTGCACTCCCGGTCC 0.701 NA G||| 1768 0.353035 0.4675 0.3213 5008 , , NA 12281 0.2589 NA 0.2117 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 1 Substitution - coding silent(1) haematopoietic_and_lymphoid_tissue(1) G 1881,2525 599.7+/-389.3 404,1073,726 30 29 29 714 1.8 0 19 dbSNP_96 29 1941,6655 695.8+/-404.8 217,1507,2574 no coding-synonymous HAPLN4 NM_023002.2 621,2580,3300 GG,GA,AA 22.5803,42.6918,29.3955 238/403 19369435 3822,9180 2203 4298 6501 SO:0001819 synonymous_variant AB107883 CCDS12398.1 19p13.1 2013-01-11 404037 Immunoglobulin superfamily / V-set domain containing 31357 protein-coding gene gene with protein product brain link protein 2 NA 12663660 Standard NM_023002 NM_023002 NA Approved BRAL2, KIAA1926 uc002nmb.3 Q86UW8 ENST00000291481.7:c.714T>C chr19.hg19:g.19369435A>G NA A5PKW5|Q96PW2 hg19 CCDS12398.1 0.02 18.737123 TGCxCTC COVERED NOVEL HAPLN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460117.2 1 33.386722 KEEP 0 0 0 111 3245 AA 1 1 0 - 30 60 986 0 0 64.421596 444 60 14408 755 ENST00000291481.7 0.063291 1 SUGP1 57794 __UNKNOWN__ __UNKNOWN__ 19 19408164 19408164 __UNKNOWN__ Intron SNP G G A rs2301785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19408164G>A ENST00000247001.5 - 8 1235 SUGP1_ENST00000585763.1_Intron NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CTGCAAAGGAGAGTTGGGGGG 0.587 NA G||| 315 0.0628994 0.0015 0.0994 5008 , , NA 20133 0.1121 NA 0.0408 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 G 52,4352 48.9+/-83.8 0,52,2150 41 43 42 -3.2 0 19 dbSNP_100 42 496,8102 139.0+/-195.8 18,460,3821 no intron SUGP1 NM_172231.3 18,512,5971 AA,AG,GG 5.7688,1.1807,4.2147 19408164 548,12454 2202 4299 6501 SO:0001627 intron_variant AF521128 CCDS12399.1 19p13 2013-01-28 2010-08-10 2010-08-10 ENSG00000105705 57794 G patch domain containing 18643 protein-coding gene gene with protein product 607992 splicing factor 4 SF4 NA 12594045 Standard NM_021164 NM_172231 NA Approved F23858, DKFZp434E2216, RBP uc002nmh.3 Q8IWZ8 ENST00000247001.5:c.888-11C>T chr19.hg19:g.19408164G>A NA O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3 hg19 CCDS12399.1 0.02 11.128522 GGAxAGT COVERED NOVEL SUGP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460128.4 1 10.834857 KEEP 0 0 0 36 1261 GG 0.999999 0.999999 0 - 15 60 538 0 0 36.271071 237 60 9044 353 ENST00000247001.5 0.059524 1 SUGP1 57794 __UNKNOWN__ __UNKNOWN__ 19 19431480 19431480 __UNKNOWN__ 5'UTR SNP C C A rs4539728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19431480C>A ENST00000247001.5 - 0 173 NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 GCCTAAGTCCCAGTCACGATA 0.517 NA C||| 330 0.0658946 0.0083 0.1037 5008 , , NA 9994 0.1131 NA 0.0408 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF521128 CCDS12399.1 19p13 2013-01-28 2010-08-10 2010-08-10 ENSG00000105705 57794 G patch domain containing 18643 protein-coding gene gene with protein product 607992 splicing factor 4 SF4 NA 12594045 Standard NM_021164 NM_172231 NA Approved F23858, DKFZp434E2216, RBP uc002nmh.3 Q8IWZ8 ENST00000247001.5:c.-175G>T chr19.hg19:g.19431480C>A NA O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3 hg19 CCDS12399.1 0.02 1.933435 TCCxAGT COVERED NOVEL SUGP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460128.4 0 9.32946 KEEP 0 0 0 31 1046 CC 0.999997 0.999675 0 - 7 60 248 0 0 17.641274 78 60 2896 120 ENST00000247001.5 0.082353 0.999678 MAU2 23383 __UNKNOWN__ __UNKNOWN__ 19 19447946 19447946 __UNKNOWN__ Intron SNP C C T rs192284886 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19447946C>T ENST00000392313.6 + 4 539 MAU2_ENST00000586189.3_Intron|MAU2_ENST00000262815.8_Intron NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor NA NA maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278) chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116) protein N-terminus binding (GO:0047485) NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 TTTTTTTTTTCTTACATTCCC 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 18 19 19 NA NA 19 NA 19447946 1867 4102 5969 SO:0001627 intron_variant AB020699 CCDS32969.2 19p13.11 2013-08-28 2013-08-28 2013-08-28 ENSG00000129933 ENSG00000129933 23383 29140 protein-coding gene gene with protein product sister chromatid cohesion 4 614560 KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans) KIAA0892 NA 10048485 Standard NM_015329 NM_015329 NA Approved MGC75361, mau-2, MAU2L, SCC4 uc002nmk.4 Q9Y6X3 OTTHUMG00000150188 ENST00000392313.6:c.361-33C>T chr19.hg19:g.19447946C>T NA Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8 hg19 CCDS32969.2 0.02 6.271354 TTTxTTA COVERED NOVEL MAU2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316748.6 1 5.304053 KEEP 0 8 134 66 2353 CC 1 1 0 + 20 60 318 0 1 14.997531 183 60 6457 383 ENST00000392313.6 0.098522 1 MAU2 23383 __UNKNOWN__ __UNKNOWN__ 19 19456264 19456264 __UNKNOWN__ Intron SNP C C T rs35824797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19456264C>T ENST00000392313.6 + 12 1400 MAU2_ENST00000262815.8_Intron NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor NA NA maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278) chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116) protein N-terminus binding (GO:0047485) NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 GGACAGCAGTCGCGCTAGGTC 0.622 NA C||| 380 0.0758786 0.0098 0.1153 5008 , , NA 19380 0.1121 NA 0.0567 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB020699 CCDS32969.2 19p13.11 2013-08-28 2013-08-28 2013-08-28 ENSG00000129933 ENSG00000129933 23383 29140 protein-coding gene gene with protein product sister chromatid cohesion 4 614560 KIAA0892, MAU2 chromatid cohesion factor homolog (C. elegans) KIAA0892 NA 10048485 Standard NM_015329 NM_015329 NA Approved MGC75361, mau-2, MAU2L, SCC4 uc002nmk.4 Q9Y6X3 OTTHUMG00000150188 ENST00000392313.6:c.1221+86C>T chr19.hg19:g.19456264C>T NA Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8 hg19 CCDS32969.2 0.02 6.071269 AGTxGCG COVERED NOVEL MAU2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316748.6 1 12.637158 KEEP 0 0 0 42 1308 CC 1 1 0 + 10 60 340 0 0 21.736903 183 60 5998 246 ENST00000392313.6 0.051813 1 GATAD2A 54815 __UNKNOWN__ __UNKNOWN__ 19 19617134 19617134 __UNKNOWN__ 3'UTR SNP G G A rs2033481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19617134G>A ENST00000404158.1 + 0 3174 GATAD2A_ENST00000252577.5_3'UTR|GATAD2A_ENST00000360315.3_3'UTR|GATAD2A_ENST00000358713.3_3'UTR Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A NA NA anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|NuRD complex (GO:0016581) protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 GAGAGGATCCGGTCGGCAGCA 0.478 NA G||| 343 0.0684904 0.0083 0.1138 5008 , , NA 14142 0.12 NA 0.0368 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL390164 CCDS12402.2 19p13.11 2013-01-25 ENSG00000167491 ENSG00000167491 54815 GATA zinc finger domain containing 29989 protein-coding gene gene with protein product p66 alpha 614997 NA 12183469 Standard NM_017660 NM_017660 NA Approved p66alpha uc010xqt.2 Q86YP4 OTTHUMG00000152541 ENST00000404158.1:c.*851G>A chr19.hg19:g.19617134G>A NA B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1 hg19 0.02 5.009828 TCCxGTC COVERED NOVEL GATAD2A-002 NOVEL alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000326672.4 2 11.436354 KEEP 0 0 0 38 1303 GG 1 0.999993 0 + 5 60 200 0 0 13.554199 105 60 3729 186 ENST00000404158.1 0.045455 0.999993 ZNF14 7561 __UNKNOWN__ __UNKNOWN__ 19 19824850 19824850 __UNKNOWN__ Intron SNP T T G rs11085270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:19824850T>G ENST00000344099.3 - 3 330 NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TTGCTTGCTTTCTTTTGAAAT 0.378 NA T||| 942 0.188099 0.1528 0.1628 5008 , , NA 13751 0.2331 NA 0.2465 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 T 660,3746 271.6+/-270.3 50,560,1593 61 59 60 0.5 0 19 dbSNP_120 60 1902,6698 325.2+/-316.8 196,1510,2594 no intron ZNF14 NM_021030.2 246,2070,4187 GG,GT,TT 22.1163,14.9796,19.6986 19824850 2562,10444 2203 4300 6503 SO:0001627 intron_variant AA286756 CCDS12409.1 19p13.11 2013-01-08 2006-05-10 7561 Zinc fingers, C2H2-type, - 12924 protein-coding gene gene with protein product 194556 zinc finger protein 14 (KOX 6) NA Standard NM_021030 NM_021030 NA Approved KOX6, GIOT-4 uc002nnk.1 P17017 ENST00000344099.3:c.191+49A>C chr19.hg19:g.19824850T>G NA B9EGA4|Q9ULZ5 hg19 CCDS12409.1 0.02 8.642957 CTTxCTT COVERED NOVEL ZNF14-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460775.1 1 16.548166 KEEP 0 0 0 55 1686 TT 1 1 0 - 9 60 337 0 0 21.520142 220 60 7867 354 ENST00000344099.3 0.039301 1 ZNF682 91120 __UNKNOWN__ __UNKNOWN__ 19 20135092 20135092 __UNKNOWN__ Missense_Mutation SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:20135092T>C ENST00000397165.2 - 2 257 c.97A>G c.(97-99)Atg>Gtg p.M33V ZNF682_ENST00000596019.1_Missense_Mutation_p.M33V|ZNF682_ENST00000597972.1_Missense_Mutation_p.M39V|ZNF682_ENST00000593468.1_Missense_Mutation_p.M33V|ZNF682_ENST00000358523.5_Start_Codon_SNP_p.M1V|ZNF682_ENST00000595736.1_Intron|ZNF682_ENST00000397162.1_Start_Codon_SNP_p.M1V NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 33 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TTCTCTAGCATCACTTTCCTA 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 78 85 83 NA NA 19 NA 20135092 2193 4300 6493 SO:0001583 missense AC006539 CCDS42533.1, CCDS42534.1 19p12 2014-02-13 ENSG00000197124 ENSG00000197124 91120 Zinc fingers, C2H2-type, - 28857 protein-coding gene gene with protein product NA Standard NM_033196 NM_033196 NA Approved BC39498_3 uc002noq.3 O95780 OTTHUMG00000182650 ENST00000397165.2:c.97A>G chr19.hg19:g.20135092T>C ENSP00000380351:p.Met33Val NA B3KU64|E9PFJ5|Q96JV9 hg19 CCDS42533.1 0.02 17.905903 GCAxCAC COVERED . . . . . . . . . . t 0.628 -0.818362 0.02776 . . ENSG00000197124 ENST00000397165;ENST00000397162;ENST00000358523 T;T;T 0.03065 4.06;5.35;5.35 0.898 0.898 0.19264 Krueppel-associated box (4); . . . . T 0.09113 0.0225 M 0.90082 3.085 0.80722 D 1 B 0.24483 0.104 B 0.34931 0.192 T 0.02450 -1.1157 9 0.87932 D 0 . 3.8522 0.08960 0.0:0.0:0.0:1.0 . 33 O95780 ZN682_HUMAN V 33;1;1 ENSP00000380351:M33V;ENSP00000380348:M1V;ENSP00000351324:M1V ENSP00000351324:M1V M - 1 0 ZNF682 19996092 0.922000 0.31269 0.097000 0.21041 0.098000 0.18820 2.233000 0.43027 0.243000 0.21327 0.240000 0.17902 ATG NOVEL ZNF682-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462888.1 2 14.74504 KEEP 0 0 0 49 1569 TT 1 1 0 - 13 60 481 0 0 29.277778 397 60 14583 563 ENST00000397165.2 0.031707 1 CTC-260E6.6 0 __UNKNOWN__ __UNKNOWN__ 19 20360069 20360069 __UNKNOWN__ RNA SNP G G C rs60021607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:20360069G>C ENST00000593655.1 - 0 199 NA NA NA AATTTTTTTAGTAATTTATTC 0.279 NA G||| 1306 0.260783 0.1362 0.3055 5008 , , NA 15964 0.4613 NA 0.164 False NA ,,, NA NA NA 2504 0.2904 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000593655.1: chr19.hg19:g.20360069G>C NA hg19 0.02 2.082421 TTAxTAA COVERED NOVEL CTC-260E6.6-006 KNOWN basic antisense NA antisense OTTHUMT00000462901.1 1 3.310416 KEEP 0 0 0 11 367 GG 0.993072 0.989331 0 - 4 60 147 0 0 9.977733 65 60 2377 81 ENST00000593655.1 0.057971 0.996233 ZNF737 100129842 __UNKNOWN__ __UNKNOWN__ 19 20748522 20748522 __UNKNOWN__ 5'UTR SNP C C A rs12979592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:20748522C>A ENST00000427401.4 - 0 19 CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_5'UTR NM_001159293.1 NP_001152765.1 O75373 ZN737_HUMAN zinc finger protein 737 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GCCACAGAGGCTGGGCCTCTA 0.607 NA c||| 1257 0.250998 0.0348 0.3242 5008 , , NA 15921 0.2619 NA 0.4245 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 0 C 124,1260 6,112,574 27 26 27 0.1 0.1 19 dbSNP_121 27 1401,1781 315,771,505 no utr-5 ZNF737 NM_001159293.1 321,883,1079 AA,AC,CC 44.0289,8.9595,33.399 20748522 1525,3041 692 1591 2283 SO:0001623 5_prime_UTR_variant BC015765 CCDS54238.1 19p12 2013-01-08 100129842 Zinc fingers, C2H2-type, - 32468 protein-coding gene gene with protein product 603984 NA Standard NM_145289 NM_001159293 NA Approved ZNF102 uc002npa.3 O75373 ENST00000427401.4:c.-76G>T chr19.hg19:g.20748522C>A NA C9JHM3 hg19 CCDS54238.1 0.02 8.289147 AGGxTGG COVERED NOVEL ZNF737-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447844.2 4 29.790032 KEEP 0 0 0 99 3542 CC 1 1 0 - 10 60 353 0 0 22.374872 213 60 8056 399 ENST00000427401.4 0.044843 1 ZNF626 199777 __UNKNOWN__ __UNKNOWN__ 19 20807438 20807438 __UNKNOWN__ Silent SNP A A G rs62107362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:20807438A>G ENST00000601440.1 - 4 1391 c.1245T>C c.(1243-1245)caT>caC p.H415H CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 415 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GAATTTTCTTATGTGTAGTAA 0.388 NA a||| 3776 0.753994 0.5794 0.8545 5008 , , NA 18875 0.7569 NA 0.8678 False NA ,,, NA NA NA 2504 0.7986 NA NA NA NA 0 A 2747,1525 884,979,273 54 54 54 1245 -0.3 0 19 dbSNP_129 54 7414,1102 3246,922,90 no coding-synonymous ZNF626 NM_001076675.2 4130,1901,363 GG,GA,AA 12.9403,35.6976,20.5427 415/529 20807438 10161,2627 2136 4258 6394 SO:0001819 synonymous_variant BC007116 CCDS32976.1, CCDS42535.1 19p13.11 2013-01-08 ENSG00000188171 199777 Zinc fingers, C2H2-type, - 30461 protein-coding gene gene with protein product NA 12477932 Standard NM_145297 NM_145297 NA Approved uc002npb.1 Q68DY1 ENST00000601440.1:c.1245T>C chr19.hg19:g.20807438A>G NA Q8N8T4|Q96QM1 hg19 CCDS42535.1 0.02 7.094186 CTTxTGT COVERED NOVEL ZNF626-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447845.2 6 13.540926 KEEP 1 0 0 45 1421 AA 1 1 0 - 10 60 354 0 0 24.057009 146 60 5260 252 ENST00000601440.1 0.064103 1 ZNF66 7617 __UNKNOWN__ __UNKNOWN__ 19 20988637 20988637 __UNKNOWN__ Silent SNP G G A rs6511163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:20988637G>A ENST00000344519.8 + 4 254 c.231G>A c.(229-231)ttG>ttA p.L77L ZNF66_ENST00000425625.1_Silent_p.L123L Q6ZN08 ZNF66_HUMAN zinc finger protein 66 77 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA TTTCAGTTTTGTGTTCTCATT 0.308 NA .||| 1767 0.352835 0.2126 0.3761 5008 , , NA 16802 0.4345 NA 0.4085 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant M88375 19p12 2013-03-06 2013-03-06 2013-03-06 ENSG00000160229 ENSG00000160229 7617 13135 other unknown zinc finger protein 66, pseudogene ZNF66P NA 1505991 Standard NG_023377 NG_023377 NA Approved FLJ16537 uc002npe.3 Q6ZN08 OTTHUMG00000167735 ENST00000344519.8:c.231G>A chr19.hg19:g.20988637G>A NA I3L4P5|Q15939 hg19 0.02 7.730345 TTTxTGT COVERED NOVEL ZNF66-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000395955.2 3 14.575684 KEEP 0 1 33 60 2123 GG 1 1 0 + 9 60 319 0 0 19.503916 233 60 8887 351 ENST00000344519.8 0.03719 1 ZNF66 7617 __UNKNOWN__ __UNKNOWN__ 19 20989703 20989703 __UNKNOWN__ Missense_Mutation SNP G G T rs138771709 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:20989703G>T ENST00000344519.8 + 4 1320 c.1297G>T c.(1297-1299)Gcc>Tcc p.A433S ZNF66_ENST00000425625.1_Intron Q6ZN08 ZNF66_HUMAN zinc finger protein 66 433 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NA ATGTGGCAAAGCCTTCAGTCG 0.423 NA .||| 67 0.0133786 0.0 0.0 5008 , , NA 20524 0.0625 NA 0.004 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense M88375 19p12 2013-03-06 2013-03-06 2013-03-06 ENSG00000160229 ENSG00000160229 7617 13135 other unknown zinc finger protein 66, pseudogene ZNF66P NA 1505991 Standard NG_023377 NG_023377 NA Approved FLJ16537 uc002npe.3 Q6ZN08 OTTHUMG00000167735 ENST00000344519.8:c.1297G>T chr19.hg19:g.20989703G>T ENSP00000461425:p.Ala433Ser NA I3L4P5|Q15939 hg19 0.02 4.461121 AAAxCCT COVERED NOVEL ZNF66-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000395955.2 3 17.758309 KEEP 0 0 0 59 2154 GG 1 1 0 + 7 60 246 0 0 16.211095 119 60 4490 236 ENST00000344519.8 0.055556 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 21427377 21427377 __UNKNOWN__ IGR SNP A A G rs11085438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21427377A>G NA NA ZNF431 (54343 upstream) : ZNF708 (46584 downstream) NA NA NA TGCTCCTGACAGTTGATCAGA 0.393 NA A||| 2840 0.567093 0.5688 0.5187 5008 , , NA 16383 0.619 NA 0.5408 False NA ,,, NA NA NA 2504 0.5726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.21427377A>G NA hg19 0.02 7.115094 GACxGTT COVERED NOVEL 0 1 7.221147 KEEP 0 0 0 24 743 AA 0.999909 0.999909 0 14 60 509 0 0 36.771941 151 60 5622 235 0.084848 1 ZNF708 7562 __UNKNOWN__ __UNKNOWN__ 19 21477431 21477431 __UNKNOWN__ Missense_Mutation SNP T T C rs1781873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21477431T>C ENST00000356929.3 - 4 534 c.337A>G c.(337-339)Aaa>Gaa p.K113E NM_021269.2 NP_067092.2 P17019 ZN708_HUMAN zinc finger protein 708 49 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1) 32 TCCACACTTTTACAGCCTTTC 0.393 NA T||| 3110 0.621006 0.7436 0.562 5008 , , NA 17016 0.629 NA 0.5089 False NA ,,, NA NA NA 2504 0.6043 NA NA NA NA 0 T GLU/LYS 3110,1296 1100,910,193 152 138 143 337 -0.6 0 19 dbSNP_89 143 4486,4114 1227,2032,1041 yes missense ZNF708 NM_021269.2 56 2327,2942,1234 CC,CT,TT 47.8372,29.4144,41.5962 benign 113/564 21477431 7596,5410 2203 4300 6503 SO:0001583 missense X52339 CCDS32980.1 19p12 2014-02-14 2006-08-22 2005-08-16 ENSG00000182141 ENSG00000182141 7562 Zinc fingers, C2H2-type, - 12945 protein-coding gene gene with protein product zinc finger protein 15-like 1 (KOX 8), zinc finger protein 708, zinc finger protein 708 (KOX8) ZNF15, ZNF15L1 NA 2014798 Standard NM_021269 NM_021269 NA Approved KOX8 uc002npq.1 P17019 OTTHUMG00000182841 ENST00000356929.3:c.337A>G chr19.hg19:g.21477431T>C ENSP00000349401:p.Lys113Glu NA Q6ZMR0 hg19 CCDS32980.1 0.02 7.385713 TTTxACA COVERED 1334 0.6108058608058609 367 0.7459349593495935 208 0.574585635359116 380 0.6643356643356644 379 0.5 . 0.884 -0.727862 0.03158 0.705856 0.521628 ENSG00000182141 ENST00000356929 T 0.06218 3.33 1.07 -0.564 0.11774 . . . . . T 0.00012 0.0000 N 0.11341 0.13 0.80722 P 0.0 B 0.11235 0.004 B 0.12837 0.008 T 0.08249 -1.0731 8 0.17369 T 0.5 . 3.2122 0.06686 0.0:0.3246:0.0:0.6753 rs1781873;rs52805708;rs59165625;rs1781873 113 P17019 ZN708_HUMAN E 113 ENSP00000349401:K113E ENSP00000349401:K113E K - 1 0 ZNF708 21269271 0.000000 0.05858 0.023000 0.16930 0.022000 0.10575 -0.330000 0.07925 -0.428000 0.07339 -0.436000 0.05848 AAA NOVEL ZNF708-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463953.1 0 11.7346 KEEP 0 0 0 39 1203 TT 1 1 0 - 11 60 426 0 0 30.580576 145 60 5151 235 ENST00000356929.3 0.070513 1 ZNF738 148203 __UNKNOWN__ __UNKNOWN__ 19 21544571 21544571 __UNKNOWN__ Missense_Mutation SNP G G A rs1142653 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21544571G>A ENST00000311015.3 + 2 218 c.7G>A c.(7-9)Gac>Aac p.D3N ZNF738_ENST00000594245.1_Missense_Mutation_p.D3N|ZNF738_ENST00000380870.4_Missense_Mutation_p.D3N|ZNF738_ENST00000597810.1_Missense_Mutation_p.D3N Q8NE65 ZN738_HUMAN zinc finger protein 738 3 NA protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842) p.D3N(1) kidney(1)|lung(1) 2 CCCATAGGACGACCTGAGGTA 0.453 NA g||| 3015 0.602037 0.6838 0.5533 5008 , , NA 13948 0.6359 NA 0.5119 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 1 Substitution - Missense(1) kidney(1) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense BC034499 19p12 2013-01-16 ENSG00000172687 ENSG00000172687 148203 32469 other unknown NA Standard NR_027130 NR_027130 NA Approved uc002nps.4 Q8NE65 OTTHUMG00000141298 ENST00000311015.3:c.7G>A chr19.hg19:g.21544571G>A ENSP00000311957:p.Asp3Asn NA A8K4N7 hg19 0.02 6.841158 GACxACC COVERED 1311 0.6002747252747253 338 0.6869918699186992 207 0.5718232044198895 384 0.6713286713286714 382 0.503957783641161 N 0.001 -2.953034 0.00050 . . ENSG00000172687 ENST00000311015;ENST00000380870 T;T 0.00892 5.57;5.64 0.118 -0.237 0.13061 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.19331 0.035 B 0.08055 0.003 T 0.27191 -1.0081 6 0.02654 T 1 . . . . rs1142653;rs11542011;rs12982420;rs56521002;rs12982420 3 Q8NE65 ZN738_HUMAN N 3 ENSP00000311957:D3N;ENSP00000370252:D3N ENSP00000311957:D3N D + 1 0 ZNF738 21336411 0.001000 0.12720 0.053000 0.19242 0.054000 0.15201 -1.071000 0.03437 -1.040000 0.03271 -1.031000 0.02408 GAC NOVEL ZNF738-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000280564.1 1 12.639757 KEEP 0 0 0 42 1403 GG 1 1 0 + 7 60 261 0 0 16.544752 176 60 6171 299 ENST00000311015.3 0.038251 1 ZNF738 148203 __UNKNOWN__ __UNKNOWN__ 19 21544714 21544714 __UNKNOWN__ Intron SNP C C G rs12982282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21544714C>G ENST00000311015.3 + 2 307 ZNF738_ENST00000594245.1_Intron|ZNF738_ENST00000380870.4_Intron|ZNF738_ENST00000597810.1_Intron Q8NE65 ZN738_HUMAN zinc finger protein 738 NA NA protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842) kidney(1)|lung(1) 2 aaaacatgctctactaaaaat 0.448 NA c||| 3015 0.602037 0.6838 0.5533 5008 , , NA 14253 0.6359 NA 0.5119 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034499 19p12 2013-01-16 ENSG00000172687 ENSG00000172687 148203 32469 other unknown NA Standard NR_027130 NR_027130 NA Approved uc002nps.4 Q8NE65 OTTHUMG00000141298 ENST00000311015.3:c.96+54C>G chr19.hg19:g.21544714C>G NA A8K4N7 hg19 0.02 2.180491 GCTxTAC COVERED NOVEL ZNF738-001 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000280564.1 0 7.824907 KEEP 0 0 0 26 910 CC 0.999957 0.999838 0 + 5 60 189 0 0 12.853072 87 60 3226 125 ENST00000311015.3 0.054348 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 21563398 21563398 __UNKNOWN__ IGR SNP A A G rs7248601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21563398A>G NA NA ZNF738 (1294 upstream) : ZNF493 (16522 downstream) NA NA NA GTGGCAAAAGAAATGGATTAA 0.403 NA .||| 3158 0.630591 0.7504 0.5605 5008 , , NA 19535 0.6399 NA 0.5249 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.21563398A>G NA hg19 0.02 6.48438 AAGxAAT COVERED NOVEL 0 0 7.822558 KEEP 0 0 0 26 810 AA 0.999957 0.999957 0 8 60 276 0 0 17.380232 172 60 6266 248 0.044444 1 ZNF493 284443 __UNKNOWN__ __UNKNOWN__ 19 21587918 21587918 __UNKNOWN__ Intron SNP G G T rs7254059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21587918G>T ENST00000339914.6 + 2 112 ZNF493_ENST00000596302.1_Intron|ZNF493_ENST00000594390.1_Intron|ZNF493_ENST00000392288.2_Intron|ZNF493_ENST00000355504.4_Intron NM_145326.2 NP_663299.2 Q6ZR52 ZN493_HUMAN zinc finger protein 493 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 gtgtttgtgtgtgtttgtTTC 0.418 NA .||| 2888 0.576677 0.6331 0.5461 5008 , , NA 15565 0.627 NA 0.496 False NA ,,, NA NA NA 2504 0.5532 NA NA NA NA 0 G ,, 2741,1665 847,1047,309 55 59 58 ,, -1.8 0 19 dbSNP_116 58 4473,4127 1210,2053,1037 no intron,intron,intron ZNF493 NM_001076678.2,NM_145326.2,NM_175910.6 ,, 2057,3100,1346 TT,TG,GG 47.9884,37.7894,44.5333 ,, ,, 21587918 7214,5792 2203 4300 6503 SO:0001627 intron_variant AK093823, BC006408, BC022394 CCDS12412.1, CCDS42536.1, CCDS12411.1 19p12 2013-01-08 ENSG00000196268 ENSG00000196268 284443 Zinc fingers, C2H2-type, - 23708 protein-coding gene gene with protein product NA Standard NM_175910 NM_001076678 NA Approved FLJ36504 uc002npw.3 Q6ZR52 OTTHUMG00000141297 ENST00000339914.6:c.31-13G>T chr19.hg19:g.21587918G>T NA G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99 hg19 CCDS12411.1 0.02 7.985874 TGTxTGT COVERED NOVEL ZNF493-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000280561.1 10 13.879392 KEEP 0 1 25 55 2005 GG 1 1 0 + 9 70 329 1 0 20.419061 238 70 9075 350 ENST00000339914.6 0.036437 1 ZNF493 284443 __UNKNOWN__ __UNKNOWN__ 19 21588692 21588692 __UNKNOWN__ Intron SNP T T C rs1055753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21588692T>C ENST00000339914.6 + 3 338 ZNF493_ENST00000596302.1_Intron|ZNF493_ENST00000594390.1_Intron|CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Intron|ZNF493_ENST00000355504.4_Intron NM_145326.2 NP_663299.2 Q6ZR52 ZN493_HUMAN zinc finger protein 493 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 TTGACATAGATGAAAGGTTGA 0.453 NA .||| 2952 0.589457 0.6589 0.5519 5008 , , NA 10599 0.6359 NA 0.503 False NA ,,, NA NA NA 2504 0.5634 NA NA NA NA 0 T ,, 2745,1661 845,1055,303 49 49 49 ,, 0.9 0 19 dbSNP_86 49 4472,4128 1209,2054,1037 no intron,intron,intron ZNF493 NM_001076678.2,NM_145326.2,NM_175910.6 ,, 2054,3109,1340 CC,CT,TT 48.0,37.6986,44.5102 ,, ,, 21588692 7217,5789 2203 4300 6503 SO:0001627 intron_variant AK093823, BC006408, BC022394 CCDS12412.1, CCDS42536.1, CCDS12411.1 19p12 2013-01-08 ENSG00000196268 ENSG00000196268 284443 Zinc fingers, C2H2-type, - 23708 protein-coding gene gene with protein product NA Standard NM_175910 NM_001076678 NA Approved FLJ36504 uc002npw.3 Q6ZR52 OTTHUMG00000141297 ENST00000339914.6:c.256+34T>C chr19.hg19:g.21588692T>C NA G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99 hg19 CCDS12411.1 0.02 3.128693 AGAxGAA COVERED NOVEL ZNF493-001 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000280561.1 5 11.77057 KEEP 0 1 37 52 1603 TT 1 0.999999 0 + 6 60 191 0 0 11.651438 113 60 4002 218 ENST00000339914.6 0.05042 0.999999 ZNF493 284443 __UNKNOWN__ __UNKNOWN__ 19 21606429 21606429 __UNKNOWN__ Missense_Mutation SNP G G T rs4621113 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21606429G>T ENST00000392288.2 + 4 1077 c.968G>T c.(967-969)tGt>tTt p.C323F CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C195F NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 195 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 CCCTATAAATGTGAAGAATGT 0.333 NA .||| 2943 0.58766 0.6589 0.5476 5008 , , NA 19736 0.6319 NA 0.5 False NA ,,, NA NA NA 2504 0.5644 NA NA NA NA 0 G PHE/CYS,PHE/CYS 2757,1641 867,1023,309 32 37 35 968,584 1 0.2 19 dbSNP_111 35 4437,4151 1205,2027,1062 no missense,missense ZNF493 NM_001076678.2,NM_175910.6 205,205 2072,3050,1371 TT,TG,GG 48.3349,37.3124,44.6019 probably-damaging,probably-damaging 323/775,195/647 21606429 7194,5792 2199 4294 6493 SO:0001583 missense AK093823, BC006408, BC022394 CCDS12412.1, CCDS42536.1, CCDS12411.1 19p12 2013-01-08 ENSG00000196268 ENSG00000196268 284443 Zinc fingers, C2H2-type, - 23708 protein-coding gene gene with protein product NA Standard NM_175910 NM_001076678 NA Approved FLJ36504 uc002npw.3 Q6ZR52 OTTHUMG00000141297 ENST00000392288.2:c.968G>T chr19.hg19:g.21606429G>T ENSP00000376110:p.Cys323Phe NA G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99 hg19 CCDS42536.1 0.02 8.568928 AATxTGA COVERED 1284 0.5879120879120879 334 0.6788617886178862 202 0.5580110497237569 378 0.6608391608391608 370 0.48812664907651715 N 5.820 0.335504 0.11013 0.626876 0.516651 ENSG00000196268 ENST00000392288;ENST00000355504 D;D 0.85088 -1.94;-1.94 0.985 0.985 0.19779 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 M 0.94101 3.495 0.09310 P 1.0 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.46992 -0.9151 8 0.87932 D 0 . 8.7583 0.34658 0.0:0.0:1.0:0.0 rs4621113;rs4621113 195;323 Q6ZR52;Q6ZR52-2 ZN493_HUMAN;. F 323;195 ENSP00000376110:C323F;ENSP00000347691:C195F ENSP00000347691:C195F C + 2 0 ZNF493 21398269 1.000000 0.71417 0.194000 0.23346 0.190000 0.23558 6.598000 0.74122 0.399000 0.25367 0.404000 0.27445 TGT NOVEL ZNF493-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280562.1 3 12.33991 KEEP 0 0 0 41 1440 GG 1 1 0 + 11 60 397 0 0 25.857413 215 60 8146 305 ENST00000392288.2 0.048673 1 ZNF493 284443 __UNKNOWN__ __UNKNOWN__ 19 21607525 21607525 __UNKNOWN__ Silent SNP A A G rs201105659 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21607525A>G ENST00000392288.2 + 4 2173 c.2064A>G c.(2062-2064)gaA>gaG p.E688E CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.E560E NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 560 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ACAAATGTGAAAAATGTGGCA 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 33 37 35 NA NA 19 NA 21607525 2202 4296 6498 SO:0001819 synonymous_variant AK093823, BC006408, BC022394 CCDS12412.1, CCDS42536.1, CCDS12411.1 19p12 2013-01-08 ENSG00000196268 ENSG00000196268 284443 Zinc fingers, C2H2-type, - 23708 protein-coding gene gene with protein product NA Standard NM_175910 NM_001076678 NA Approved FLJ36504 uc002npw.3 Q6ZR52 OTTHUMG00000141297 ENST00000392288.2:c.2064A>G chr19.hg19:g.21607525A>G NA G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99 hg19 CCDS42536.1 0.02 10.401881 TGAxAAA COVERED NOVEL ZNF493-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000280562.1 26 2.209998 KEEP 0 6 202 78 2457 AA 1 1 0 + 22 60 811 0 0 60.684736 195 60 7001 358 ENST00000392288.2 0.101382 1 ZNF429 353088 __UNKNOWN__ __UNKNOWN__ 19 21688495 21688495 __UNKNOWN__ 5'UTR SNP C C T rs73017722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21688495C>T ENST00000358491.4 + 0 130 ZNF429_ENST00000597078.1_5'UTR|ZNF429_ENST00000594022.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 TTCTTAGAGGCCCAGCCTGTG 0.562 NA C||| 2782 0.555511 0.4758 0.5288 5008 , , NA 14820 0.6438 NA 0.5388 False NA ,,, NA NA NA 2504 0.6084 NA NA NA NA 0 C 662,722 156,350,186 25 25 25 0.5 0 19 dbSNP_130 25 1767,1415 499,769,323 no utr-5 ZNF429 NM_001001415.2 655,1119,509 TT,TC,CC 44.4689,47.8324,46.8025 21688495 2429,2137 692 1591 2283 SO:0001623 5_prime_UTR_variant AY269786 CCDS42537.1 19p12 2014-02-14 ENSG00000197013 ENSG00000197013 353088 Zinc fingers, C2H2-type, - 20817 protein-coding gene gene with protein product NA Standard NM_001001415 NM_001001415 NA Approved uc002nqd.1 Q86V71 OTTHUMG00000182848 ENST00000358491.4:c.-79C>T chr19.hg19:g.21688495C>T NA A6NLV7|Q9BZE6 hg19 CCDS42537.1 0.02 3.754014 AGGxCCA COVERED NOVEL ZNF429-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463981.1 0 20.766449 KEEP 0 0 0 69 2379 CC 1 1 0 + 9 60 287 0 0 18.907261 118 60 4263 224 ENST00000358491.4 0.070866 1 ZNF429 353088 __UNKNOWN__ __UNKNOWN__ 19 21719401 21719401 __UNKNOWN__ Silent SNP T T C rs35782355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21719401T>C ENST00000358491.4 + 4 754 c.546T>C c.(544-546)ttT>ttC p.F182F ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 182 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 GCAAATCATTTTGCATGCTTT 0.328 NA t||| 2793 0.557708 0.4781 0.5288 5008 , , NA 20186 0.6389 NA 0.5388 False NA ,,, NA NA NA 2504 0.6217 NA NA NA NA 0 T 2049,2339 493,1063,638 49 52 51 546 0.2 0.2 19 dbSNP_126 51 4797,3801 1380,2037,882 no coding-synonymous ZNF429 NM_001001415.2 1873,3100,1520 CC,CT,TT 44.208,46.6955,47.2817 182/675 21719401 6846,6140 2194 4299 6493 SO:0001819 synonymous_variant AY269786 CCDS42537.1 19p12 2014-02-14 ENSG00000197013 ENSG00000197013 353088 Zinc fingers, C2H2-type, - 20817 protein-coding gene gene with protein product NA Standard NM_001001415 NM_001001415 NA Approved uc002nqd.1 Q86V71 OTTHUMG00000182848 ENST00000358491.4:c.546T>C chr19.hg19:g.21719401T>C NA A6NLV7|Q9BZE6 hg19 CCDS42537.1 0.02 6.279128 ATTxTGC COVERED NOVEL ZNF429-003 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463981.1 1 3.742637 KEEP 0 1 27 22 674 TT 0.999892 0.999892 0 + 10 60 369 0 0 24.61575 182 60 6573 248 ENST00000358491.4 0.052083 1 RP11-678G14.2 0 __UNKNOWN__ __UNKNOWN__ 19 21751811 21751811 __UNKNOWN__ RNA SNP G G C rs11085466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21751811G>C ENST00000594564.1 - 0 134 NA NA NA CTGTGGAGCTGACTGACGGGA 0.597 NA .||| 1285 0.256589 0.3147 0.1412 5008 , , NA 15988 0.2272 NA 0.2187 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000594564.1: chr19.hg19:g.21751811G>C NA hg19 0.02 5.004426 GCTxACT COVERED NOVEL RP11-678G14.2-001 KNOWN basic antisense NA antisense OTTHUMT00000463990.1 0 9.165434 KEEP 0 1 36 43 1490 GG 1 0.999999 0 - 5 60 191 0 0 12.823471 97 60 3653 188 ENST00000594564.1 0.04902 0.999999 RP11-678G14.2 0 __UNKNOWN__ __UNKNOWN__ 19 21751988 21751988 __UNKNOWN__ RNA SNP C C T rs4809135 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21751988C>T ENST00000594564.1 - 0 51 NA NA NA GGAGACTGGGCCTCTGAAGAC 0.587 NA .||| 1597 0.31889 0.2292 0.3905 5008 , , NA 16638 0.3929 NA 0.328 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000594564.1: chr19.hg19:g.21751988C>T NA hg19 0.02 3.751461 GGGxCTC COVERED NOVEL RP11-678G14.2-001 KNOWN basic antisense NA antisense OTTHUMT00000463990.1 1 18.287074 KEEP 0 0 0 61 2050 CC 1 1 0 - 7 60 253 0 0 16.604747 132 60 4725 248 ENST00000594564.1 0.05036 1 ZNF100 163227 __UNKNOWN__ __UNKNOWN__ 19 21909948 21909948 __UNKNOWN__ Missense_Mutation SNP G G A rs7246400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21909948G>A ENST00000358296.6 - 5 1364 c.1166C>T c.(1165-1167)aCt>aTt p.T389I ZNF100_ENST00000305570.6_Missense_Mutation_p.T325I NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 389 NA T -> I (in dbSNP:rs7246400). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1740334}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 CTTATGTTTAGTAAGGTATGA 0.388 NA N||| 2550 0.509185 0.3699 0.6614 5008 , , NA 21187 0.621 NA 0.5616 False NA ,,, NA NA NA 2504 0.4202 NA NA NA NA 0 G ILE/THR 1638,2718 310,1018,850 52 57 55 1166 0.8 0 19 dbSNP_116 55 4838,3726 1352,2134,796 no missense ZNF100 NM_173531.3 89 1662,3152,1646 AA,AG,GG 43.5077,37.6033,49.8762 possibly-damaging 389/543 21909948 6476,6444 2178 4282 6460 SO:0001583 missense BC035579 CCDS42538.1 19p13.1 2013-01-08 2003-12-19 ENSG00000197020 ENSG00000197020 163227 Zinc fingers, C2H2-type, - 12880 protein-coding gene gene with protein product 603982 zinc finger protein 100 (Y1) NA 12477932 Standard NM_173531 NM_173531 NA Approved uc002nqi.3 Q8IYN0 ENST00000358296.6:c.1166C>T chr19.hg19:g.21909948G>A ENSP00000351042:p.Thr389Ile NA Q7M4M0 hg19 CCDS42538.1 0.02 4.091359 TTAxTAA COVERED 1201 0.549908424908425 180 0.36585365853658536 233 0.643646408839779 363 0.6346153846153846 425 0.5606860158311345 . 2.552 -0.303828 0.05495 0.376033 0.564923 ENSG00000197020 ENST00000358296 T 0.35605 1.3 0.841 0.841 0.18918 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.26130 0.795 0.58432 P 5.999999999950489E-6 P;P 0.43352 0.719;0.804 B;P 0.44394 0.41;0.448 T 0.36768 -0.9734 8 0.33141 T 0.24 . 1.79 0.03049 0.2538:0.0:0.4232:0.323 rs7246400;rs17853437;rs57140346 389;443 Q8IYN0;Q4G131 ZN100_HUMAN;. I 389 ENSP00000351042:T389I ENSP00000351042:T389I T - 2 0 ZNF100 21701788 0.000000 0.05858 0.029000 0.17559 0.029000 0.11900 -0.000000 0.12993 0.182000 0.20032 0.185000 0.17295 ACT NOVEL ZNF100-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464087.1 4 12.640241 KEEP 0 0 0 42 1487 GG 1 1 0 - 6 60 217 0 0 13.907767 129 60 4863 213 ENST00000358296.6 0.044444 1 ZNF100 163227 __UNKNOWN__ __UNKNOWN__ 19 21933943 21933943 __UNKNOWN__ Intron SNP C C T rs10423041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21933943C>T ENST00000358296.6 - 3 295 RP11-420K14.6_ENST00000596710.1_RNA NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 AACCGATGTGCGAGACAAGAG 0.448 NA c||| 3434 0.685703 0.534 0.8141 5008 , , NA 16365 0.7738 NA 0.8588 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035579 CCDS42538.1 19p13.1 2013-01-08 2003-12-19 ENSG00000197020 ENSG00000197020 163227 Zinc fingers, C2H2-type, - 12880 protein-coding gene gene with protein product 603982 zinc finger protein 100 (Y1) NA 12477932 Standard NM_173531 NM_173531 NA Approved uc002nqi.3 Q8IYN0 ENST00000358296.6:c.97-6074G>A chr19.hg19:g.21933943C>T NA Q7M4M0 hg19 CCDS42538.1 0.02 -0.244888 GTGxGAG COVERED NOVEL ZNF100-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464087.1 0 3.611222 KEEP 0 0 0 12 410 CC 0.993634 0.637264 0 - 4 60 144 0 0 11.32826 24 60 797 50 ENST00000358296.6 0.142857 0.641347 ZNF100 163227 __UNKNOWN__ __UNKNOWN__ 19 21936769 21936769 __UNKNOWN__ Intron SNP G G A rs62110822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21936769G>A ENST00000358296.6 - 3 295 ZNF100_ENST00000596452.1_Intron NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 AAAAGGCAAGGAACAAATAAT 0.338 NA g||| 1414 0.282348 0.0545 0.5086 5008 , , NA 17304 0.3651 NA 0.3787 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035579 CCDS42538.1 19p13.1 2013-01-08 2003-12-19 ENSG00000197020 ENSG00000197020 163227 Zinc fingers, C2H2-type, - 12880 protein-coding gene gene with protein product 603982 zinc finger protein 100 (Y1) NA 12477932 Standard NM_173531 NM_173531 NA Approved uc002nqi.3 Q8IYN0 ENST00000358296.6:c.97-8900C>T chr19.hg19:g.21936769G>A NA Q7M4M0 hg19 CCDS42538.1 0.02 6.965778 AAGxAAC COVERED NOVEL ZNF100-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464087.1 1 8.061109 KEEP 0 1 35 39 1354 GG 1 1 0 - 10 60 358 0 0 23.759704 172 60 6443 276 ENST00000358296.6 0.054945 1 ZNF100 163227 __UNKNOWN__ __UNKNOWN__ 19 21950402 21950402 __UNKNOWN__ 5'UTR SNP T T C rs6511291 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:21950402T>C ENST00000358296.6 - 0 28 NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 CCGGAAGCCGTCCAGTCCGCT 0.587 NA T||| 2614 0.521965 0.4145 0.6671 5008 , , NA 14506 0.624 NA 0.5586 False NA ,,, NA NA NA 2504 0.4213 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC035579 CCDS42538.1 19p13.1 2013-01-08 2003-12-19 ENSG00000197020 ENSG00000197020 163227 Zinc fingers, C2H2-type, - 12880 protein-coding gene gene with protein product 603982 zinc finger protein 100 (Y1) NA 12477932 Standard NM_173531 NM_173531 NA Approved uc002nqi.3 Q8IYN0 ENST00000358296.6:c.-171A>G chr19.hg19:g.21950402T>C NA Q7M4M0 hg19 CCDS42538.1 0.02 4.258532 CCGxCCA COVERED NOVEL ZNF100-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464087.1 2 5.287222 KEEP 0 2 73 43 1357 TT 1 1 0 - 7 60 223 0 0 13.967178 132 60 4394 215 ENST00000358296.6 0.05036 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 22536050 22536050 __UNKNOWN__ IGR SNP C C T rs11673212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:22536050C>T NA NA ZNF729 (36072 upstream) : ZNF98 (37770 downstream) NA NA NA atcatgaggtcaggagtttga 0.463 NA C||| 3280 0.654952 0.7579 0.5418 5008 , , NA 12997 0.6042 NA 0.5437 False NA ,,, NA NA NA 2504 0.7628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.22536050C>T NA hg19 0.02 -0.035092 GGTxAGG UNCOVERED NOVEL 0 3 2.708964 KEEP 5 0 0 9 328 CC 0 0 0 2 60 68 0 0 6.549927 2 60 75 19 0.5 0.019982 ZNF98 148198 __UNKNOWN__ __UNKNOWN__ 19 22575570 22575570 __UNKNOWN__ Missense_Mutation SNP T T C rs557673910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:22575570T>C ENST00000357774.5 - 4 588 c.467A>G c.(466-468)tAt>tGt p.Y156C NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 156 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ATATTTGTCATATTGAAATAT 0.308 NA N||| 2 0.000399361 0.0015 0.0 5008 , , NA 16678 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense CCDS46031.1 19p12 2014-02-14 2010-04-20 2008-06-12 ENSG00000197360 ENSG00000197360 148198 Zinc fingers, C2H2-type, - 13174 protein-coding gene gene with protein product zinc finger protein 739 603980 NA Standard NM_001098626 NM_001098626 NA Approved ZNF739, F7175 uc002nqt.2 A6NK75 OTTHUMG00000182940 ENST00000357774.5:c.467A>G chr19.hg19:g.22575570T>C ENSP00000350418:p.Tyr156Cys NA hg19 CCDS46031.1 0.02 6.21115 TCAxATT COVERED . . . . . . . . . . . 0.003 -2.447082 0.00178 . . ENSG00000197360 ENST00000357774 T 0.36157 1.27 1.1 -1.61 0.08399 . . . . . T 0.04363 0.0120 N 0.00031 -2.595 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.19778 -1.0295 9 0.02654 T 1 . 2.8802 0.05645 0.2114:0.4577:0.0:0.3309 . 156 A6NK75 ZNF98_HUMAN C 156 ENSP00000350418:Y156C ENSP00000350418:Y156C Y - 2 0 ZNF98 22367410 0.012000 0.17670 0.000000 0.03702 0.002000 0.02628 -0.728000 0.04925 -1.406000 0.02045 -0.684000 0.03749 TAT NOVEL ZNF98-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464398.1 0 2.440694 KEEP 12 1 28 18 557 TT 0.99986 0.99986 0 - 6 39 219 0 0 13.389118 171 60 6289 234 ENST00000357774.5 0.033898 1 CTC-457E21.3 0 __UNKNOWN__ __UNKNOWN__ 19 22785179 22785179 __UNKNOWN__ RNA SNP G G T rs76240421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:22785179G>T ENST00000600260.1 + 0 1355 NR_033899.1 NA NA NA AGCAAAGGCTGCGCTGCCGGT 0.642 NA G||| 7 0.00139776 0.0 0.0 5008 , , NA 14561 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000600260.1: chr19.hg19:g.22785179G>T NA hg19 0.02 6.334805 GCTxCGC COVERED NOVEL CTC-457E21.3-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000464572.1 2 9.029397 KEEP 0 0 0 30 1058 GG 0.999997 0.999997 0 + 6 60 221 0 0 13.823626 156 60 5654 226 ENST00000600260.1 0.037037 1 ZNF492 57615 __UNKNOWN__ __UNKNOWN__ 19 22836805 22836805 __UNKNOWN__ Missense_Mutation SNP G G A rs200144130 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:22836805G>A ENST00000456783.2 + 3 362 c.118G>A c.(118-120)Gct>Act p.A40T NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 40 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) p.A40T(2) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) TGAGATGGTAGCTGAACCCCC 0.408 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) prostate(2) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AB040906 CCDS46032.1 19p13.11 2013-01-08 ENSG00000229676 57615 Zinc fingers, C2H2-type 23707 protein-coding gene gene with protein product zinc finger protein 115 (Y20) ZNF115 NA 10819331 Standard NM_020855 NM_020855 NA Approved KIAA1473 uc002nqw.3 Q9P255 ENST00000456783.2:c.118G>A chr19.hg19:g.22836805G>A ENSP00000413660:p.Ala40Thr NA Q08EI7|Q08EI8 hg19 CCDS46032.1 0.02 15.477107 GTAxCTG COVERED . . . . . . . . . . . 10.18 1.279365 0.23307 . . ENSG00000229676 ENST00000456783 T 0.07688 3.17 0.458 0.458 0.16670 Krueppel-associated box (1); . . . . T 0.13372 0.0324 M 0.72576 2.205 0.09310 N 1 P 0.45011 0.848 P 0.46585 0.521 T 0.13899 -1.0492 8 0.42905 T 0.14 . . . . . 40 Q9P255 ZN492_HUMAN T 40 ENSP00000413660:A40T ENSP00000413660:A40T A + 1 0 ZNF492 22628645 0.064000 0.20934 0.002000 0.10522 0.002000 0.02628 1.318000 0.33643 0.482000 0.27582 0.484000 0.47621 GCT NOVEL ZNF492-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464581.1 2 10.067498 KEEP 22 1 30 44 1593 GG 1 1 0 + 13 27 461 0 0 27.603613 377 70 14354 572 ENST00000456783.2 0.033333 1 CTC-457E21.9 0 __UNKNOWN__ __UNKNOWN__ 19 22868753 22868753 __UNKNOWN__ RNA SNP G G A rs75250510 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:22868753G>A ENST00000601860.1 - 0 340 NA NA NA CTTACTACACGTAAGATAATT 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000601860.1: chr19.hg19:g.22868753G>A NA hg19 0.02 -0.359684 CACxTAA COVERED . . . . . . . . . . . 0.029 -1.349689 0.01266 . . ENSG00000198153 ENST00000340708 . . . 0.8 0.8 0.18672 . . . . . T 0.12646 0.0307 . . . . . . . . . . . . T 0.41502 -0.9505 4 0.02654 T 1 . 4.3895 0.11334 0.7556:0.0:0.2444:0.0 . . . . H 262 . ENSP00000342595:R262H R + 2 0 AC011467.1 22660593 0.972000 0.33761 0.006000 0.13384 0.006000 0.05464 4.598000 0.61069 -1.400000 0.02061 -1.375000 0.01183 CGT NOVEL CTC-457E21.9-001 KNOWN basic antisense NA antisense OTTHUMT00000464586.1 2 3.009464 KEEP 1 0 0 10 338 GG 0.992708 0.882393 0 - 4 40 137 0 0 9.963165 36 60 1260 57 ENST00000601860.1 0.1 0.888875 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23405457 23405457 __UNKNOWN__ Silent SNP T T G rs10411741 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23405457T>G ENST00000418100.1 - 4 1707 c.1590A>C c.(1588-1590)ggA>ggC p.G530G A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene 530 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 AGGGTTTCTCTCCAGCATGAA 0.358 NA t||| 2717 0.542532 0.3268 0.6484 5008 , , NA 20729 0.6637 NA 0.6014 False NA ,,, NA NA NA 2504 0.5736 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.1590A>C chr19.hg19:g.23405457T>G NA hg19 0.02 6.006156 CTCxCCA COVERED NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 3 7.692576 KEEP 0 2 61 47 1531 TT 1 1 0 - 9 60 320 0 0 20.58757 180 60 6570 286 ENST00000418100.1 0.047619 1 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23405580 23405580 __UNKNOWN__ Silent SNP T T C rs10412126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23405580T>C ENST00000418100.1 - 4 1584 c.1467A>G c.(1465-1467)ctA>ctG p.L489L A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene 489 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GGTGTGAGGATAGGTTAAAAG 0.383 NA N||| 2536 0.50639 0.1982 0.6398 5008 , , NA 20851 0.6627 NA 0.6014 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.1467A>G chr19.hg19:g.23405580T>C NA hg19 0.02 7.012697 GGAxAGG COVERED NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 2 4.418383 KEEP 1 3 107 52 1609 TT 1 1 0 - 6 60 232 0 0 15.056719 148 60 5324 248 ENST00000418100.1 0.038961 1 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23406801 23406801 __UNKNOWN__ Silent SNP G G C rs8110795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23406801G>C ENST00000418100.1 - 4 363 c.246C>G c.(244-246)gcC>gcG p.A82A A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene 82 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GAAGGTCTTGGGCAAAATAAC 0.318 NA g||| 2486 0.496406 0.1641 0.6369 5008 , , NA 19696 0.6627 NA 0.6004 False NA ,,, NA NA NA 2504 0.5675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.246C>G chr19.hg19:g.23406801G>C NA hg19 0.02 4.584387 TTGxGCA COVERED NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 0 7.524618 KEEP 0 0 0 25 889 GG 0.999931 0.999926 0 - 8 60 283 0 0 19.575805 105 60 3811 186 ENST00000418100.1 0.070796 0.999995 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23414167 23414167 __UNKNOWN__ Intron SNP T T G rs4932841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23414167T>G ENST00000418100.1 - 3 248 ZNF724P_ENST00000597037.1_Intron A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GCAATACCTGTTTTATTAAAA 0.363 NA t||| 2536 0.50639 0.1982 0.6398 5008 , , NA 15360 0.6627 NA 0.6014 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.131-4A>C chr19.hg19:g.23414167T>G NA hg19 0.02 15.337084 CTGxTTT COVERED NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 1 7.660299 KEEP 0 1 36 38 1263 TT 1 1 0 - 16 60 592 0 0 38.599286 335 60 11856 444 ENST00000418100.1 0.045584 1 ZNF724P 440519 __UNKNOWN__ __UNKNOWN__ 19 23433107 23433107 __UNKNOWN__ 5'UTR SNP G G C rs10405424 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23433107G>C ENST00000418100.1 - 0 55 ZNF724P_ENST00000597037.1_5'UTR A8MTY0 ZN724_HUMAN zinc finger protein 724, pseudogene NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TTGCAGGTCAGAGGGCCACAG 0.612 NA c||| 2710 0.541134 0.329 0.6412 5008 , , NA 16703 0.6627 NA 0.5954 False NA ,,, NA NA NA 2504 0.5757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 19p12 2014-02-14 2010-08-03 ENSG00000196081 ENSG00000196081 440519 32460 pseudogene pseudogene zinc finger protein 724 pseudogene, zinc finger protein 724 (pseudogene) NA Standard NR_045525 NA Approved uc021uru.1 A8MTY0 OTTHUMG00000183231 ENST00000418100.1:c.-63C>G chr19.hg19:g.23433107G>C NA hg19 0.02 7.153628 TCAxAGG COVERED NOVEL ZNF724P-001 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000465743.1 0 4.786016 KEEP 0 2 66 39 1357 GG 1 1 0 - 15 60 542 0 0 39.298321 157 60 5938 242 ENST00000418100.1 0.087209 1 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23543095 23543095 __UNKNOWN__ Missense_Mutation SNP T T C rs296093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23543095T>C ENST00000300619.7 - 4 2891 c.2686A>G c.(2686-2688)Acc>Gcc p.T896A ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.T864A NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 896 NA T -> A (in dbSNP:rs296093). transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TCAGTAAGGGTTGAGGACCAG 0.353 NA T||| 863 0.172324 0.1884 0.0418 5008 , , NA 21466 0.3472 NA 0.0636 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 T ALA/THR 709,3657 265.9+/-266.9 50,609,1524 68 74 72 2686 -2.7 0 19 dbSNP_79 72 460,8124 134.3+/-191.7 10,440,3842 no missense ZNF91 NM_003430.2 58 60,1049,5366 CC,CT,TT 5.3588,16.2391,9.027 possibly-damaging 896/1192 23543095 1169,11781 2183 4292 6475 SO:0001583 missense M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.2686A>G chr19.hg19:g.23543095T>C ENSP00000300619:p.Thr896Ala NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 6.707233 GGGxTGA COVERED 376 0.17216117216117216 101 0.20528455284552846 17 0.04696132596685083 203 0.3548951048951049 55 0.07255936675461741 T 0.008 -1.893581 0.00522 0.162391 0.053588 ENSG00000167232 ENST00000300619;ENST00000397082 T;T 0.14640 2.49;2.49 1.34 -2.69 0.06022 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.16266 0.395 0.80722 P 0.0 B;P 0.37370 0.097;0.592 B;B 0.35550 0.061;0.205 T 0.36986 -0.9725 8 0.07990 T 0.79 . 5.1758 0.15133 0.0:0.4361:0.3618:0.2021 rs296093;rs52836218;rs296093 864;896 Q05481-2;Q05481 .;ZNF91_HUMAN A 896;864 ENSP00000300619:T896A;ENSP00000380272:T864A ENSP00000300619:T896A T - 1 0 ZNF91 23334935 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.039000 0.03550 -1.698000 0.01418 -1.193000 0.01689 ACC NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 4 11.434207 KEEP 0 0 0 38 1215 TT 1 1 0 - 10 60 375 0 0 25.866806 156 60 5527 252 ENST00000300619.7 0.060241 1 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23544625 23544625 __UNKNOWN__ Missense_Mutation SNP C C T rs403356 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23544625C>T ENST00000300619.7 - 4 1361 c.1156G>A c.(1156-1158)Gct>Act p.A386T ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A354T NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 386 NA A -> T (in dbSNP:rs403356). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8467795}. transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CGCTTAAAAGCTTTGTCACAT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 62 65 64 NA NA 19 NA 23544625 2064 4219 6283 SO:0001583 missense M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.1156G>A chr19.hg19:g.23544625C>T ENSP00000300619:p.Ala386Thr NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 1.942072 AAGxTTT COVERED 206 0.09432234432234432 56 0.11382113821138211 47 0.1298342541436464 11 0.019230769230769232 92 0.12137203166226913 C 0.632 -0.816795 0.02776 . . ENSG00000167232 ENST00000300619;ENST00000397082 T;T 0.13778 2.56;2.56 1.66 -3.33 0.04958 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00178 0.0005 L 0.35414 1.06 0.80722 P 0.0 D;D 0.71674 0.998;0.986 D;P 0.78314 0.991;0.808 T 0.06807 -1.0806 8 0.27082 T 0.32 . 1.5514 0.02575 0.1501:0.1942:0.1491:0.5066 rs35098889 354;386 Q05481-2;Q05481 .;ZNF91_HUMAN T 386;354 ENSP00000300619:A386T;ENSP00000380272:A354T ENSP00000300619:A386T A - 1 0 ZNF91 23336465 0.000000 0.05858 0.002000 0.10522 0.006000 0.05464 -3.533000 0.00439 -1.093000 0.03058 -1.206000 0.01644 GCT NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 0 3.244637 KEEP 1 1 20 18 659 CC 0.99986 0.999482 0 - 18 40 630 0 0 52.531135 67 50 2536 126 ENST00000300619.7 0.211765 0.999622 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23545447 23545447 __UNKNOWN__ Missense_Mutation SNP A A G rs296091 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23545447A>G ENST00000300619.7 - 4 539 c.334T>C c.(334-336)Tat>Cat p.Y112H ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.Y80H NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 112 NA Y -> H (in dbSNP:rs296091). transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CATTTTTCATATTTTCTCAGT 0.323 NA A||| 863 0.172324 0.1884 0.0418 5008 , , NA 14667 0.3472 NA 0.0636 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 A HIS/TYR 668,3428 47,574,1427 51 52 51 334 0.1 0.2 19 dbSNP_79 51 447,8011 9,429,3791 yes missense ZNF91 NM_003430.2 83 56,1003,5218 GG,GA,AA 5.2849,16.3086,8.8816 probably-damaging 112/1192 23545447 1115,11439 2048 4229 6277 SO:0001583 missense M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.334T>C chr19.hg19:g.23545447A>G ENSP00000300619:p.Tyr112His NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 9.435599 CATxTTT COVERED 374 0.17124542124542125 101 0.20528455284552846 16 0.04419889502762431 203 0.3548951048951049 54 0.0712401055408971 A 1.145 -0.648423 0.03506 0.163086 0.052849 ENSG00000167232 ENST00000300619;ENST00000397082 T;T 0.05382 3.45;3.45 0.131 0.131 0.14755 . . . . . T 0.00012 0.0000 L 0.46947 1.48 0.80722 P 0.0 B;P 0.34615 0.291;0.459 B;B 0.34301 0.17;0.179 T 0.47355 -0.9124 7 0.18710 T 0.47 . . . . rs296091;rs3826669;rs52806469;rs296091 80;112 Q05481-2;Q05481 .;ZNF91_HUMAN H 112;80 ENSP00000300619:Y112H;ENSP00000380272:Y80H ENSP00000300619:Y112H Y - 1 0 ZNF91 23337287 0.000000 0.05858 0.236000 0.24074 0.720000 0.41350 -0.641000 0.05434 0.148000 0.19059 0.147000 0.16070 TAT NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 3 17.74416 KEEP 0 0 0 59 1782 AA 1 1 0 - 15 70 576 0 0 40.365478 226 60 8263 361 ENST00000300619.7 0.062241 1 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23557502 23557502 __UNKNOWN__ Missense_Mutation SNP G G A rs141062920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23557502G>A ENST00000300619.7 - 2 300 c.95C>T c.(94-96)aCt>aTt p.T32I ZNF91_ENST00000599743.1_Missense_Mutation_p.T32I|ZNF91_ENST00000397082.2_Missense_Mutation_p.T32I NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 32 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTGCTGTGCAGTGTCCAGACA 0.388 NA G||| 429 0.0856629 0.09 0.0317 5008 , , NA 15505 0.1012 NA 0.0636 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 G ILE/THR 370,4036 180.5+/-208.7 15,340,1848 90 99 96 95 0.2 0 19 dbSNP_134 96 456,8144 136.4+/-193.5 9,438,3853 no missense ZNF91 NM_003430.2 89 24,778,5701 AA,AG,GG 5.3023,8.3976,6.3509 possibly-damaging 32/1192 23557502 826,12180 2203 4300 6503 SO:0001583 missense M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.95C>T chr19.hg19:g.23557502G>A ENSP00000300619:p.Thr32Ile NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 12.729478 GCAxTGT COVERED 163 0.07463369963369963 42 0.08536585365853659 12 0.03314917127071823 58 0.10139860139860139 51 0.06728232189973615 G 2.575 -0.298822 0.05532 0.083976 0.053023 ENSG00000167232 ENST00000300619;ENST00000397082 T;T 0.01767 4.65;4.65 0.149 0.149 0.14863 Krueppel-associated box (4); . . . . T 0.00109 0.0003 M 0.70275 2.135 0.80722 P 0.0 B;B 0.24132 0.004;0.098 B;B 0.23419 0.002;0.046 T 0.16630 -1.0396 7 0.51188 T 0.08 . . . . . 32;32 Q05481-2;Q05481 .;ZNF91_HUMAN I 32 ENSP00000300619:T32I;ENSP00000380272:T32I ENSP00000300619:T32I T - 2 0 ZNF91 23349342 0.000000 0.05858 0.049000 0.19019 0.050000 0.14768 -0.411000 0.07142 0.192000 0.20272 0.195000 0.17529 ACT NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 20 23.47697 KEEP 0 0 0 78 2811 GG 1 1 0 - 14 60 513 0 0 33.036935 305 60 11700 507 ENST00000300619.7 0.043887 1 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23557809 23557809 __UNKNOWN__ Intron SNP G G A rs17554640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23557809G>A ENST00000300619.7 - 2 236 ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGATGATAAAGTGTAAAATTG 0.294 NA G||| 863 0.172324 0.1884 0.0418 5008 , , NA 18678 0.3472 NA 0.0636 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.31-243C>T chr19.hg19:g.23557809G>A NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 8.835691 AAAxTGT COVERED NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 4 7.223739 KEEP 0 0 0 24 866 GG 0.999909 0.999909 0 - 13 60 471 0 0 32.218619 194 60 7381 264 ENST00000300619.7 0.062802 1 ZNF91 7644 __UNKNOWN__ __UNKNOWN__ 19 23567542 23567542 __UNKNOWN__ Intron SNP A A T rs77338463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23567542A>T ENST00000300619.7 - 2 236 ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 NA NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGAAACTAGGAGAAAGCACAC 0.493 NA A||| 526 0.105032 0.1604 0.0375 5008 , , NA 16947 0.1012 NA 0.0636 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M61871 CCDS42541.1, CCDS74322.1 19p12 2014-02-04 2006-05-12 ENSG00000167232 ENSG00000167232 7644 Zinc fingers, C2H2-type, - 13166 protein-coding gene gene with protein product 603971 zinc finger protein 91 (HPF7, HTF10) NA 2023909, 2505992 Standard NM_003430 XR_430154 NA Approved HPF7, HTF10 uc002nre.3 Q05481 OTTHUMG00000183268 ENST00000300619.7:c.31-9976T>A chr19.hg19:g.23567542A>T NA A8K5E1|B7Z6G6 hg19 CCDS42541.1 0.02 4.762638 AGGxGAA COVERED NOVEL ZNF91-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465891.1 2 4.513472 KEEP 0 0 0 15 476 AA 0.99649 0.996472 0 - 5 60 175 0 0 11.184204 99 60 3637 143 ENST00000300619.7 0.048077 0.999981 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 23688052 23688052 __UNKNOWN__ IGR SNP G G A rs556889147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23688052G>A NA NA CTB-175P5.4 (97159 upstream) : ZNF675 (20380 downstream) NA NA NA CATCCATGTCGTCTGTTGTAT 0.453 NA G||| 4 0.000798722 0.0008 0.0 5008 , , NA 13885 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.23688052G>A NA hg19 0.02 33.83847 GTCxTCT COVERED NOVEL 0 2 13.777796 KEEP 0 1 29 56 1908 GG 1 1 0 27 60 981 0 0 60.530163 723 60 25635 961 0.036 1 ZNF675 171392 __UNKNOWN__ __UNKNOWN__ 19 23779969 23779969 __UNKNOWN__ Intron SNP T T A rs74840584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:23779969T>A ENST00000601935.1 - 3 390 ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron Q8TD23 ZN675_HUMAN zinc finger protein 675 NA NA bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGAGAAACCCTACAAATGTGA 0.358 NA T||| 277 0.0553115 0.0015 0.0043 5008 , , NA 20369 0.2401 NA 0.0 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32981.1 19p12 2013-01-08 171392 Zinc fingers, C2H2-type, - 30768 protein-coding gene gene with protein product TRAF6 inhibitory zinc finger NA 11751921 Standard NM_138330 NM_138330 NA Approved TIZ, TBZF uc002nri.3 Q8TD23 ENST00000601935.1:c.226+64946A>T chr19.hg19:g.23779969T>A NA Q8N211 hg19 0.02 4.422722 CCCxACA COVERED NOVEL ZNF675-008 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000466430.1 2 5.416325 KEEP 0 0 0 18 561 TT 0.999859 0.999858 0 - 7 60 264 0 0 18.154515 113 60 4114 160 ENST00000601935.1 0.058333 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 27732070 27732070 __UNKNOWN__ IGR SNP A A T rs74197639 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:27732070A>T NA NA None (None upstream) : CTB-151G24.1 (397320 downstream) NA NA NA gctagacagaagaattctcag 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.27732070A>T NA hg19 0.02 36.921838 AGAxGAA COVERED NOVEL 0 351 50.328082 KEEP 72 28 901 483 15790 AA 1 1 0 17 60 634 0 0 48.490443 133 60 4856 1799 0.113333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 27738923 27738923 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:27738923A>T NA NA None (None upstream) : CTB-151G24.1 (390467 downstream) NA NA NA ctttagacagagcagatttga 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.27738923A>T NA hg19 0.02 1.757036 CAGxGCA COVERED NOVEL 0 48 15.046943 KEEP 47 0 0 50 1658 AA 1 0.997898 0 3 60 101 0 0 9.724852 3 60 115 230 0.5 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 28246235 28246235 __UNKNOWN__ IGR SNP C C T rs60083158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:28246235C>T NA NA LINC00662 (9097 upstream) : CTC-459F4.1 (1856 downstream) NA NA NA ACTATTGTGCCAACTGCCAGG 0.448 NA c||| 1231 0.245807 0.3699 0.2349 5008 , , NA 18789 0.2569 NA 0.1928 False NA ,,, NA NA NA 2504 0.1288 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.28246235C>T NA hg19 0.02 6.442998 TGCxAAC COVERED NOVEL 0 1 5.116622 KEEP 0 0 0 17 597 CC 0.999366 0.999366 0 8 60 294 0 0 19.384495 154 60 5549 198 0.049383 1 POP4 10775 __UNKNOWN__ __UNKNOWN__ 19 30102856 30102856 __UNKNOWN__ Intron SNP A A G rs2288477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:30102856A>G ENST00000585603.1 + 4 2664 POP4_ENST00000221770.3_Intron|POP4_ENST00000392279.3_Intron|POP4_ENST00000591824.1_Intron O95707 RPP29_HUMAN processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) NA NA mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033) nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677) ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723) breast(1)|endometrium(1)|lung(4) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) CGTAAGTTGCATTCCTGAAGC 0.507 NA A||| 1488 0.297125 0.1407 0.317 5008 , , NA 20236 0.4603 NA 0.327 False NA ,,, NA NA NA 2504 0.2955 NA NA NA Melanoma(89;1165 1449 14085 34436 43672) NA 0 A 781,3625 317.4+/-295.1 56,669,1478 109 101 103 -4.2 0 19 dbSNP_100 103 3109,5491 473.6+/-368.6 563,1983,1754 no intron POP4 NM_006627.2 619,2652,3232 GG,GA,AA 36.1512,17.7258,29.9093 30102856 3890,9116 2203 4300 6503 SO:0001627 intron_variant BC006098 CCDS12416.1 19q13.11 2012-05-21 ENSG00000105171 10775 30081 protein-coding gene gene with protein product 606114 NA 10352175, 10024167 Standard NM_006627 NM_006627 NA Approved RPP29 uc002nsf.2 O95707 ENST00000585603.1:c.362+10A>G chr19.hg19:g.30102856A>G NA Q5XKL7|Q6FHW9|Q9UQQ3 hg19 CCDS12416.1 0.02 10.241267 TGCxTTC COVERED NOVEL POP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000458710.1 1 7.726808 KEEP 0 3 104 62 1900 AA 1 1 0 + 17 60 562 0 0 36.365337 268 60 9615 392 ENST00000585603.1 0.059649 1 TSHZ3 57616 __UNKNOWN__ __UNKNOWN__ 19 31770009 31770009 __UNKNOWN__ Silent SNP C C T rs28609894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:31770009C>T ENST00000240587.4 - 2 1017 c.690G>A c.(688-690)acG>acA p.T230T NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 230 NA in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105) growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634) chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TCATGTGCACCGTCAACTCCA 0.597 NA C||| 1576 0.314696 0.4304 0.2651 5008 , , NA 19559 0.2331 NA 0.2187 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 C 1793,2613 529.0+/-372.6 385,1023,795 194 174 181 690 -7.6 0.9 19 dbSNP_125 181 1893,6707 336.8+/-322.0 214,1465,2621 no coding-synonymous TSHZ3 NM_020856.2 599,2488,3416 TT,TC,CC 22.0116,40.6945,28.3408 230/1082 31770009 3686,9320 2203 4300 6503 SO:0001819 synonymous_variant AL136805 CCDS12421.2 19q13.11 2013-11-20 2007-07-16 2006-03-14 ENSG00000121297 ENSG00000121297 57616 Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type 30700 protein-coding gene gene with protein product teashirt 3 614119 zinc finger protein 537, teashirt family zinc finger 3 ZNF537 NA Standard NM_020856 NM_020856 NA Approved KIAA1474, TSH3 uc002nsy.4 Q63HK5 OTTHUMG00000150184 ENST00000240587.4:c.690G>A chr19.hg19:g.31770009C>T NA Q9H0G6|Q9P254 hg19 CCDS12421.2 0.02 23.534835 CACxGTC COVERED NOVEL TSHZ3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316743.2 4 42.735255 KEEP 0 0 0 142 4846 CC 1 1 0 - 18 60 638 0 0 38.043428 556 60 19118 871 ENST00000240587.4 0.031359 1 PDCD5 9141 __UNKNOWN__ __UNKNOWN__ 19 33076973 33076973 __UNKNOWN__ Intron SNP T T A rs10500262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33076973T>A ENST00000590247.2 + 4 452 PDCD5_ENST00000419343.3_3'UTR|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000586035.1_Intron NM_004708.3 NP_004699.1 O14737 PDCD5_HUMAN programmed cell death 5 NA NA apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677) breast(1)|large_intestine(2)|lung(1)|ovary(1) 5 Esophageal squamous(110;0.137) GAGAATAAATTGCCTTTCCTA 0.423 NA T||| 1386 0.276757 0.0953 0.3559 5008 , , NA 19804 0.0972 NA 0.5567 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF014955 CCDS12423.1 19q13.11 2012-10-15 ENSG00000105185 ENSG00000105185 9141 8764 protein-coding gene gene with protein product TFAR19 novel apoptosis-related, TF1 cell apoptosis-related gene 19 604583 NA 9920759 Standard NM_004708 NM_004708 NA Approved TFAR19, MGC9294 uc002ntm.3 O14737 OTTHUMG00000180224 ENST00000590247.2:c.258+160T>A chr19.hg19:g.33076973T>A NA B4DE64|Q53YC9|Q6IB70 hg19 CCDS12423.1 0.02 6.43995 AATxGCC COVERED NOVEL PDCD5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450320.2 4 5.113351 KEEP 0 0 0 17 499 TT 0.999366 0.999366 0 + 7 60 256 0 0 16.640243 144 60 5222 170 ENST00000590247.2 0.046358 1 RGS9BP 388531 __UNKNOWN__ __UNKNOWN__ 19 33167526 33167526 __UNKNOWN__ Silent SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33167526C>G ENST00000334176.3 + 1 1214 c.357C>G c.(355-357)ggC>ggG p.G119G NM_207391.2 NP_997274.2 Q6ZS82 R9BP_HUMAN regulator of G protein signaling 9 binding protein 119 NA detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056) integral component of membrane (GO:0016021) central_nervous_system(1)|lung(2) 3 Esophageal squamous(110;0.137) GTGTGGCTGGCGCCTCCTCCG 0.776 NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA 19 NA 33167526 816 1717 2533 SO:0001819 synonymous_variant AW302149 CCDS12424.1 19q13.11 2008-02-05 2007-08-14 ENSG00000186326 388531 30304 protein-coding gene gene with protein product 607814 regulator of G protein signalling 9 binding protein NA 12119397, 8889548 Standard NM_207391 NM_207391 NA Approved FLJ45744, PERRS, R9AP, RGS9 uc002ntp.1 Q6ZS82 ENST00000334176.3:c.357C>G chr19.hg19:g.33167526C>G NA Q6ZVJ6 hg19 CCDS12424.1 0.02 0.87904 TGGxGCC COVERED NOVEL RGS9BP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450337.1 0 5.685432 KEEP 0 0 0 19 528 CC 0.99986 0.999482 0 + 9 60 149 0 0 7.625494 69 60 1948 175 ENST00000334176.3 0.115385 0.999622 TDRD12 91646 __UNKNOWN__ __UNKNOWN__ 19 33309030 33309030 __UNKNOWN__ Missense_Mutation SNP A A T rs12151363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33309030A>T ENST00000444215.2 + 27 3670 c.3350A>T c.(3349-3351)cAg>cTg p.Q1117L Q587J7 TDR12_HUMAN tudor domain containing 12 1117 NA cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283) ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676) NS(1)|breast(1)|endometrium(3)|lung(2)|prostate(1)|skin(1) 9 Esophageal squamous(110;0.137) gctcaagaccaggatcatcca 0.582 NA A||| 386 0.0770767 0.0098 0.0807 5008 , , NA 17260 0.1042 NA 0.162 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AK023134 CCDS46038.1 19q13.11 2013-01-23 ENSG00000173809 91646 Tudor domain containing 25044 protein-coding gene gene with protein product NA 11441184 Standard NM_001015890 NM_001110822 NA Approved ECAT8, FLJ13072 uc002ntq.2 Q587J7 ENST00000444215.2:c.3350A>T chr19.hg19:g.33309030A>T ENSP00000416248:p.Gln1117Leu NA hg19 0.02 8.53066 ACCxGGA COVERED 194 0.08882783882783883 5 0.01016260162601626 28 0.07734806629834254 47 0.08216783216783216 114 0.1503957783641161 A 5.507 0.278457 0.10403 . . ENSG00000173809 ENST00000444215 T 0.23147 1.92 0.235 0.235 0.15431 . . . . . T 0.00073 0.0002 . . . 0.58432 P 1.0000000000287557E-6 B 0.30211 0.273 B 0.26416 0.069 T 0.18903 -1.0322 6 0.49607 T 0.09 . . . . rs12151363;rs17206191;rs52812301;rs12151363 1117 Q587J7 TDR12_HUMAN L 1117 ENSP00000416248:Q1117L ENSP00000416248:Q1117L Q + 2 0 TDRD12 38000870 0.021000 0.18746 0.100000 0.21137 0.050000 0.14768 0.699000 0.25586 0.263000 0.21812 0.260000 0.18958 CAG NOVEL TDRD12-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000435933.1 1 3.910948 KEEP 0 0 0 13 391 AA 0.994391 0.994391 0 + 7 60 261 0 0 15.987357 212 60 7889 257 ENST00000444215.2 0.031963 1 SLC7A9 11136 __UNKNOWN__ __UNKNOWN__ 19 33355513 33355513 __UNKNOWN__ Intron SNP A A C rs12150904 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33355513A>C ENST00000023064.4 - 3 427 SLC7A9_ENST00000587772.1_Intron|SLC7A9_ENST00000590341.1_Intron NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 NA NA amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810) brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CGGGGCTGCAACAGGCTCCCA 0.622 NA C||| 1437 0.286941 0.326 0.1787 5008 , , NA 16776 0.3006 NA 0.3728 False NA ,,, NA NA NA 2504 0.2086 NA NA NA GBM(181;1335 2108 9644 44178 46689) NA 0 C , 1426,2980 668.2+/-402.0 237,952,1014 34 36 36 , -2.6 0 19 dbSNP_120 36 2951,5649 655.7+/-401.3 488,1975,1837 no intron,intron SLC7A9 NM_001126335.1,NM_014270.4 , 725,2927,2851 CC,CA,AA 34.314,32.365,33.6537 , , 33355513 4377,8629 2203 4300 6503 SO:0001627 intron_variant AF141289 CCDS12425.1 19q13.11 2013-07-19 2013-07-19 ENSG00000021488 ENSG00000021488 11136 Solute carriers 11067 protein-coding gene gene with protein product 604144 CSNU3 NA 10471498 Standard NM_014270 NA Approved uc021usa.1 P82251 OTTHUMG00000180287 ENST00000023064.4:c.235+21T>G chr19.hg19:g.33355513A>C NA B2R9A6 hg19 CCDS12425.1 0.02 2.071571 GCAxCAG COVERED NOVEL SLC7A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450585.1 0 3.310341 KEEP 0 0 0 11 357 AA 0.993072 0.992968 0 - 6 60 220 0 0 15.203635 87 60 3100 116 ENST00000023064.4 0.064516 0.999895 CEP89 84902 __UNKNOWN__ __UNKNOWN__ 19 33370161 33370161 __UNKNOWN__ Silent SNP A A C rs745959 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33370161A>C ENST00000305768.5 - 19 2347 c.2259T>G c.(2257-2259)gtT>gtG p.V753V NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 753 NA cilium assembly (GO:0042384) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922) breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 GGCTGGGGGCAACCAGAGCTC 0.562 NA C||| 825 0.164736 0.0703 0.1527 5008 , , NA 14878 0.1091 NA 0.334 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 C 481,3925 781.9+/-414.5 25,431,1747 137 130 132 2259 -2.6 0 19 dbSNP_86 132 3052,5548 661.5+/-401.9 565,1922,1813 no coding-synonymous CEP89 NM_032816.3 590,2353,3560 CC,CA,AA 35.4884,10.9169,27.1644 753/784 33370161 3533,9473 2203 4300 6503 SO:0001819 synonymous_variant AL832158 CCDS32987.1 19q13.11 2014-02-20 2011-05-06 2011-05-06 ENSG00000121289 84902 25907 protein-coding gene gene with protein product 615470 coiled-coil domain containing 123 CCDC123 NA 16395595 Standard NM_032816 NM_032816 NA Approved FLJ14640 uc002nty.3 Q96ST8 ENST00000305768.5:c.2259T>G chr19.hg19:g.33370161A>C NA B9EGA6|Q8N5J8 hg19 CCDS32987.1 0.02 10.906343 GGCxACC COVERED NOVEL CEP89-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000451300.2 3 12.617286 KEEP 0 0 0 42 1276 AA 1 1 0 - 16 60 560 0 0 36.826856 272 60 9706 391 ENST00000305768.5 0.055556 1 LRP3 4037 __UNKNOWN__ __UNKNOWN__ 19 33698448 33698448 __UNKNOWN__ Silent SNP G G A rs3745973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33698448G>A ENST00000253193.7 + 7 2482 c.2280G>A c.(2278-2280)gaG>gaA p.E760E CTD-2540B15.13_ENST00000609744.1_RNA NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 760 NA receptor-mediated endocytosis (GO:0006898) coated pit (GO:0005905)|integral component of membrane (GO:0016021) breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) CAATGCTGGAGGCCAGCGATG 0.657 NA G||| 407 0.08127 0.0038 0.1052 5008 , , NA 13745 0.2024 NA 0.0726 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 G 76,4244 2,72,2086 15 17 16 2280 3.6 1 19 dbSNP_107 16 568,7864 18,532,3666 no coding-synonymous LRP3 NM_002333.3 20,604,5752 AA,AG,GG 6.7362,1.7593,5.0502 760/771 33698448 644,12108 2160 4216 6376 SO:0001819 synonymous_variant AB009462 CCDS12430.1 19q13.11 2013-05-30 ENSG00000130881 ENSG00000130881 4037 Low density lipoprotein receptors 6695 protein-coding gene gene with protein product 603159 NA 9693042, 7959795 Standard NM_002333 NA Approved LRP-3, hLRp105 uc010edh.3 O75074 OTTHUMG00000180343 ENST00000253193.7:c.2280G>A chr19.hg19:g.33698448G>A NA B3KQD6|B4DKF2 hg19 CCDS12430.1 0.02 4.948232 GGAxGCC COVERED NOVEL LRP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000450842.4 0 12.641234 KEEP 0 0 0 42 1503 GG 1 0.999998 0 + 7 60 263 0 0 18.133942 110 60 4092 203 ENST00000253193.7 0.059829 0.999998 PEPD 5184 __UNKNOWN__ __UNKNOWN__ 19 33882222 33882222 __UNKNOWN__ Silent SNP G G A rs17569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33882222G>A ENST00000244137.7 - 13 1164 c.1131C>T c.(1129-1131)caC>caT p.H377H PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000436370.3_Silent_p.H313H|PEPD_ENST00000397032.4_Silent_p.H336H NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 377 NA cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062) aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) CTCCCACGTCGTGCACGTCAA 0.667 NA G||| 493 0.0984425 0.0068 0.0562 5008 , , NA 17793 0.2192 NA 0.1392 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 G ,, 96,4118 1,94,2012 26 31 29 1131,1008,939 -1.8 1 19 dbSNP_63 29 1242,7202 88,1066,3068 no coding-synonymous,coding-synonymous,coding-synonymous PEPD NM_000285.3,NM_001166056.1,NM_001166057.1 ,, 89,1160,5080 AA,AG,GG 14.7087,2.2781,10.5704 ,, 377/494,336/453,313/430 33882222 1338,11320 2107 4222 6329 SO:0001819 synonymous_variant BC015027 CCDS42544.1, CCDS54244.1, CCDS54245.1 19q13.11 2008-02-05 ENSG00000124299 5184 3.4.13.9 8840 protein-coding gene gene with protein product prolidase 613230 NA 2925654, 1972707 Standard NM_000285 NM_000285 NA Approved uc002nur.4 P12955 ENST00000244137.7:c.1131C>T chr19.hg19:g.33882222G>A NA A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75 hg19 CCDS42544.1 0.02 8.871836 GTCxTGC COVERED NOVEL PEPD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451432.3 2 20.463049 KEEP 0 0 0 68 2328 GG 1 1 0 - 13 60 467 0 0 32.087774 185 60 6488 372 ENST00000244137.7 0.065657 1 PEPD 5184 __UNKNOWN__ __UNKNOWN__ 19 33953831 33953831 __UNKNOWN__ Intron SNP T T C rs75449530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:33953831T>C ENST00000244137.7 - 9 705 PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Intron NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D NA NA cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062) aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) TCTCATCTGTTACTCACTCAG 0.438 NA T||| 593 0.118411 0.0174 0.0648 5008 , , NA 18025 0.2937 NA 0.1431 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 T ,, 46,1338 1,44,647 165 133 143 ,, 2.8 0.3 19 dbSNP_132 143 480,2702 30,420,1141 no intron,intron,intron PEPD NM_000285.3,NM_001166056.1,NM_001166057.1 ,, 31,464,1788 CC,CT,TT 15.0849,3.3237,11.5199 ,, ,, 33953831 526,4040 692 1591 2283 SO:0001627 intron_variant BC015027 CCDS42544.1, CCDS54244.1, CCDS54245.1 19q13.11 2008-02-05 ENSG00000124299 5184 3.4.13.9 8840 protein-coding gene gene with protein product prolidase 613230 NA 2925654, 1972707 Standard NM_000285 NM_000285 NA Approved uc002nur.4 P12955 ENST00000244137.7:c.671+69A>G chr19.hg19:g.33953831T>C NA A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75 hg19 CCDS42544.1 0.02 4.954035 TGTxACT COVERED NOVEL PEPD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451432.3 2 3.910651 KEEP 0 0 0 13 383 TT 0.994391 0.994375 0 - 5 60 198 0 0 13.458153 100 60 3617 143 ENST00000244137.7 0.047619 0.999984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 34584137 34584137 __UNKNOWN__ IGR SNP A A G rs574004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:34584137A>G NA NA RN7SL150P (165607 upstream) : LSM14A (79292 downstream) NA NA NA CGAGCAGCAAACACACCAGTC 0.498 NA A||| 1659 0.33127 0.3752 0.2795 5008 , , NA 18580 0.2966 NA 0.3519 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.34584137A>G NA hg19 0.02 7.162245 CAAxCAC COVERED 714 0.3269230769230769 185 0.37601626016260165 113 0.31215469613259667 165 0.28846153846153844 251 0.3311345646437995 A 12.79 2.042290 0.35989 . . ENSG00000186008 ENST00000469064 . . . 0.505 0.505 0.16953 . 0.000000 0.64402 U 0.000004 T 0.00012 0.0000 . . . 0.22081 P 0.999378992 B 0.18166 0.026 B 0.18561 0.022 T 0.36261 -0.9755 7 0.87932 D 0 . 5.2623 0.15580 0.9999:0.0:1.0E-4:0.0 rs574004;rs52823332;rs58672268;rs574004 38 C9JQ55 . L 38 . ENSP00000420227:F38L F - 1 0 RPS4XP21 39275977 0.997000 0.39634 0.577000 0.28562 0.079000 0.17450 2.866000 0.48420 0.428000 0.26173 0.260000 0.18958 TTT NOVEL 0 1 5.451221 KEEP 0 1 31 29 935 AA 0.999997 0.999997 0 10 60 395 0 0 27.730513 161 60 5803 229 0.05848 1 SCGB2B2 284402 __UNKNOWN__ __UNKNOWN__ 19 35126457 35126457 __UNKNOWN__ Intron SNP A A G rs16969572 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35126457A>G ENST00000601241.1 - 2 70 Q4G0G5 SC2B2_HUMAN secretoglobin, family 2B, member 2 NA NA extracellular region (GO:0005576) NA TCTGGTGTACAGTAAGGCTAG 0.443 NA A||| 159 0.0317492 0.0038 0.0187 5008 , , NA 22814 0.0675 NA 0.0159 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093495 CCDS32989.1 19q13.12 2011-12-14 2011-12-14 2011-12-14 ENSG00000205209 ENSG00000205209 284402 Secretoglobins 27616 protein-coding gene gene with protein product 615063 secretoglobin-like SCGBL NA 22155607 Standard NM_001025591 NM_001025591 NA Approved SCGB4A2 uc002nvn.3 Q4G0G5 ENST00000601241.1:c.2031-38958T>C chr19.hg19:g.35126457A>G NA hg19 CCDS32989.1 0.02 2.032061 TACxGTA COVERED NOVEL SCGB2B2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461457.2 1 3.009268 KEEP 0 0 0 10 319 AA 0.992708 0.96037 0 - 5 60 165 0 0 11.74036 47 60 1734 70 ENST00000601241.1 0.096154 0.967425 ZNF302 55900 __UNKNOWN__ __UNKNOWN__ 19 35170730 35170730 __UNKNOWN__ Intron SNP T T C rs113390534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35170730T>C ENST00000446502.2 + 3 217 ZNF302_ENST00000457781.2_Intron|ZNF302_ENST00000505242.1_Intron|ZNF302_ENST00000423823.2_Intron|ZNF302_ENST00000505365.2_Intron|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000507959.1_Intron Q9NR11 ZN302_HUMAN zinc finger protein 302 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ttgactgttatagcgtcagta 0.428 NA T||| 127 0.0253594 0.0038 0.013 5008 , , NA 25114 0.0308 NA 0.0089 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF155656 CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1 19q13.2 2013-01-08 ENSG00000089335 ENSG00000089335 55900 Zinc fingers, C2H2-type, - 13848 protein-coding gene gene with protein product NA Standard NM_018675 NA Approved ZNF327, ZNF135L, ZNF140L uc002nvq.1 Q9NR11 OTTHUMG00000163329 ENST00000446502.2:c.10-3T>C chr19.hg19:g.35170730T>C NA Q658J3|Q9BZD8|Q9P0J4 hg19 0.02 3.871137 TTAxAGC COVERED NOVEL ZNF302-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372731.1 2 3.607406 KEEP 0 0 0 12 326 TT 0.993634 0.993633 0 + 8 60 282 0 0 19.082873 118 60 4258 139 ENST00000446502.2 0.063492 1 ZNF302 55900 __UNKNOWN__ __UNKNOWN__ 19 35176218 35176218 __UNKNOWN__ 3'UTR SNP G G A rs113860671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35176218G>A ENST00000446502.2 + 0 1616 ZNF302_ENST00000457781.2_3'UTR|ZNF302_ENST00000505242.1_3'UTR|ZNF302_ENST00000423823.2_3'UTR|ZNF302_ENST00000505365.2_3'UTR Q9NR11 ZN302_HUMAN zinc finger protein 302 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAAACCCTACGAATGCAGTAT 0.378 NA G||| 127 0.0253594 0.0038 0.013 5008 , , NA 22596 0.0308 NA 0.0089 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF155656 CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1 19q13.2 2013-01-08 ENSG00000089335 ENSG00000089335 55900 Zinc fingers, C2H2-type, - 13848 protein-coding gene gene with protein product NA Standard NM_018675 NA Approved ZNF327, ZNF135L, ZNF140L uc002nvq.1 Q9NR11 OTTHUMG00000163329 ENST00000446502.2:c.*76G>A chr19.hg19:g.35176218G>A NA Q658J3|Q9BZD8|Q9P0J4 hg19 0.02 22.250701 TACxAAT COVERED NOVEL ZNF302-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372731.1 2 25.280843 KEEP 2 0 0 84 2858 GG 1 1 0 + 17 60 613 0 0 36.049944 567 60 20516 804 ENST00000446502.2 0.02911 1 ZNF302 55900 __UNKNOWN__ __UNKNOWN__ 19 35176752 35176752 __UNKNOWN__ 3'UTR SNP C C G rs7249792 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35176752C>G ENST00000446502.2 + 0 2150 ZNF302_ENST00000457781.2_3'UTR|ZNF302_ENST00000505242.1_3'UTR|ZNF302_ENST00000423823.2_3'UTR|ZNF302_ENST00000505365.2_3'UTR Q9NR11 ZN302_HUMAN zinc finger protein 302 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTTAATTGACCTAAGTATACT 0.343 NA G||| 595 0.11881 0.0666 0.0951 5008 , , NA 18586 0.0694 NA 0.1233 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF155656 CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1 19q13.2 2013-01-08 ENSG00000089335 ENSG00000089335 55900 Zinc fingers, C2H2-type, - 13848 protein-coding gene gene with protein product NA Standard NM_018675 NA Approved ZNF327, ZNF135L, ZNF140L uc002nvq.1 Q9NR11 OTTHUMG00000163329 ENST00000446502.2:c.*610C>G chr19.hg19:g.35176752C>G NA Q658J3|Q9BZD8|Q9P0J4 hg19 0.02 5.923928 GACxTAA COVERED NOVEL ZNF302-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000372731.1 0 5.415361 KEEP 0 0 0 18 620 CC 0.999859 0.999859 0 + 6 60 206 0 0 12.477902 147 60 5394 195 ENST00000446502.2 0.039216 1 ZNF181 339318 __UNKNOWN__ __UNKNOWN__ 19 35231449 35231449 __UNKNOWN__ Intron SNP T T G rs7254124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35231449T>G ENST00000392232.3 + 6 529 ZNF181_ENST00000492450.1_Intron|ZNF181_ENST00000459757.2_Intron Q2M3W8 ZN181_HUMAN zinc finger protein 181 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TAATTCCAATTTAGAAGTTTC 0.318 NA G||| 426 0.0850639 0.0953 0.0216 5008 , , NA 16646 0.1091 NA 0.0129 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC104759, H54888 CCDS32990.2, CCDS46043.1 19q13.13 2013-01-08 2006-04-27 ENSG00000197841 ENSG00000197841 339318 Zinc fingers, C2H2-type, - 12971 protein-coding gene gene with protein product 606741 zinc finger protein 181 (HHZ181) NA Standard NM_001029997 NM_001029997 NA Approved HHZ181, MGC44316 uc002nvu.3 Q2M3W8 OTTHUMG00000157508 ENST00000392232.3:c.362-67T>G chr19.hg19:g.35231449T>G NA B7ZKX3|Q49A75 hg19 0.02 4.953636 AATxTAG COVERED NOVEL ZNF181-001 KNOWN NAGNAG_splice_site|not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000349004.2 3 4.509314 KEEP 0 0 0 15 408 TT 0.99649 0.996475 0 + 6 60 232 0 0 16.102696 98 60 3479 121 ENST00000392232.3 0.057692 0.999984 ZNF30 90075 __UNKNOWN__ __UNKNOWN__ 19 35435776 35435776 __UNKNOWN__ 3'UTR SNP G G A rs1053213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35435776G>A ENST00000439785.1 + 0 2353 ZNF30_ENST00000601142.1_3'UTR|ZNF30_ENST00000426813.2_3'UTR|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_3'UTR NM_001099438.1 NP_001092908.1 P17039 ZNF30_HUMAN zinc finger protein 30 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2) 16 all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GBM - Glioblastoma multiforme(1328;0.0265) CTTCGTGTGTGGCTCAAACAT 0.383 NA G||| 667 0.133187 0.115 0.1354 5008 , , NA 21404 0.2331 NA 0.1004 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 G ,, 395,3499 19,357,1571 14 14 14 ,, -1.3 0 19 dbSNP_86 14 867,7409 46,775,3317 no utr-3,utr-3,utr-3 ZNF30 NM_001099437.1,NM_001099438.1,NM_194325.2 ,, 65,1132,4888 AA,AG,GG 10.4761,10.1438,10.3698 ,, ,, 35435776 1262,10908 1947 4138 6085 SO:0001624 3_prime_UTR_variant X52359 CCDS46044.1, CCDS46045.1 19q13.13 2013-01-08 2006-05-10 ENSG00000168661 90075 Zinc fingers, C2H2-type, - 13090 protein-coding gene gene with protein product zinc finger protein 30 (KOX 28) NA Standard NM_194325 NM_001099437 NA Approved KOX28, DKFZp686N19164, FLJ20562 uc010edq.1 P17039 ENST00000439785.1:c.*34G>A chr19.hg19:g.35435776G>A NA A5PLP1|A8K320|B4DIC0|Q6N068 hg19 CCDS46044.1 0.02 2.136367 TGTxGCT COVERED NOVEL ZNF30-202 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000464429.1 3 5.116335 KEEP 0 0 0 17 571 GG 0.999366 0.999306 0 + 4 60 150 0 0 9.671954 93 60 3322 114 ENST00000439785.1 0.041237 0.99994 HPN 3249 __UNKNOWN__ __UNKNOWN__ 19 35551240 35551240 __UNKNOWN__ Intron SNP T T C rs75285034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35551240T>C ENST00000262626.2 + 8 1279 HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Intron NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin NA NA basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) CTGCTGACCCTTGTCCCACAG 0.692 NA C||| 272 0.0543131 0.0877 0.0058 5008 , , NA 16045 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 C , 324,4080 10,304,1888 25 29 27 , -5.2 0 19 dbSNP_132 27 0,8596 0,0,4298 no intron,intron HPN NM_002151.2,NM_182983.2 , 10,304,6186 CC,CT,TT 0.0,7.3569,2.4923 , , 35551240 324,12676 2202 4298 6500 SO:0001627 intron_variant CCDS32993.1 19q13.12 2013-04-25 2008-12-08 ENSG00000105707 ENSG00000105707 3249 Serine peptidases / Transmembrane 5155 protein-coding gene gene with protein product transmembrane protease, serine 1 142440 NA 2835076 Standard NM_002151 NM_182983 NA Approved TMPRSS1 uc002nxq.2 P05981 OTTHUMG00000182474 ENST00000262626.2:c.455-11T>C chr19.hg19:g.35551240T>C NA B2RDS4 hg19 CCDS32993.1 0.02 12.545386 CCCxTGT COVERED NOVEL HPN-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461573.1 1 17.114855 KEEP 0 0 0 57 1738 TT 1 1 0 + 9 60 327 0 0 19.385022 296 60 10753 416 ENST00000262626.2 0.029508 1 HPN 3249 __UNKNOWN__ __UNKNOWN__ 19 35551732 35551732 __UNKNOWN__ Intron SNP G G A rs75282208 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35551732G>A ENST00000262626.2 + 9 1636 HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Intron NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin NA NA basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GTAAGTCTAAGGGCTGAGCCA 0.592 NA G||| 455 0.0908546 0.2224 0.013 5008 , , NA 19094 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 G , 853,3553 297.0+/-284.5 83,687,1433 61 55 57 , 1.9 0 19 dbSNP_132 57 4,8596 3.7+/-12.6 0,4,4296 no intron,intron HPN NM_002151.2,NM_182983.2 , 83,691,5729 AA,AG,GG 0.0465,19.36,6.5893 , , 35551732 857,12149 2203 4300 6503 SO:0001627 intron_variant CCDS32993.1 19q13.12 2013-04-25 2008-12-08 ENSG00000105707 ENSG00000105707 3249 Serine peptidases / Transmembrane 5155 protein-coding gene gene with protein product transmembrane protease, serine 1 142440 NA 2835076 Standard NM_002151 NM_182983 NA Approved TMPRSS1 uc002nxq.2 P05981 OTTHUMG00000182474 ENST00000262626.2:c.811+11G>A chr19.hg19:g.35551732G>A NA B2RDS4 hg19 CCDS32993.1 0.02 7.323467 TAAxGGC COVERED NOVEL HPN-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461573.1 3 5.718118 KEEP 0 0 0 19 642 GG 0.99986 0.99986 0 + 7 60 275 0 0 18.280275 157 60 5739 206 ENST00000262626.2 0.042683 1 HPN 3249 __UNKNOWN__ __UNKNOWN__ 19 35551742 35551742 __UNKNOWN__ Intron SNP A A T rs80336604 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35551742A>T ENST00000262626.2 + 9 1636 HPN_ENST00000597419.1_Intron|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Intron NM_182983.2 NP_892028.1 P05981 HEPS_HUMAN hepsin NA NA basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) GGGCTGAGCCATGGGGCTTGA 0.587 NA T||| 455 0.0908546 0.2224 0.013 5008 , , NA 19040 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.1299 NA NA NA NA 0 T , 866,3540 742.6+/-411.4 83,700,1420 54 48 50 , -2.8 0 19 dbSNP_132 50 4,8596 818.5+/-406.9 0,4,4296 no intron,intron HPN NM_002151.2,NM_182983.2 , 83,704,5716 TT,TA,AA 0.0465,19.655,6.6892 , , 35551742 870,12136 2203 4300 6503 SO:0001627 intron_variant CCDS32993.1 19q13.12 2013-04-25 2008-12-08 ENSG00000105707 ENSG00000105707 3249 Serine peptidases / Transmembrane 5155 protein-coding gene gene with protein product transmembrane protease, serine 1 142440 NA 2835076 Standard NM_002151 NM_182983 NA Approved TMPRSS1 uc002nxq.2 P05981 OTTHUMG00000182474 ENST00000262626.2:c.811+21A>T chr19.hg19:g.35551742A>T NA B2RDS4 hg19 CCDS32993.1 0.02 4.355887 GCCxTGG COVERED NOVEL HPN-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461573.1 3 5.11419 KEEP 0 0 0 17 498 AA 0.999366 0.999366 0 + 6 60 227 0 0 14.828309 133 60 4814 171 ENST00000262626.2 0.043165 1 HPN-AS1 100128675 __UNKNOWN__ __UNKNOWN__ 19 35578055 35578055 __UNKNOWN__ RNA SNP G G A rs17718894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35578055G>A ENST00000392227.2 - 0 259 NR_024562.1 HPN antisense RNA 1 NA NA NA GCTTTGGGACGTGTCGTTTCT 0.498 NA G||| 1518 0.303115 0.1952 0.3718 5008 , , NA 17971 0.4157 NA 0.3022 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 19q13.12 2013-04-25 ENSG00000227392 ENSG00000227392 100128675 Long non-coding RNAs 47041 non-coding RNA RNA, long non-coding NA Standard NR_024561 NA Approved uc010xsi.2 OTTHUMG00000182475 ENST00000392227.2: chr19.hg19:g.35578055G>A NA hg19 0.02 4.185746 GACxTGT COVERED NOVEL HPN-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000461582.1 0 4.212834 KEEP 0 0 0 14 461 GG 0.995343 0.995343 0 - 8 60 284 0 0 18.732548 139 60 5156 165 ENST00000392227.2 0.054422 1 FXYD3 5349 __UNKNOWN__ __UNKNOWN__ 19 35608148 35608148 __UNKNOWN__ Intron SNP C C T rs1688021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35608148C>T ENST00000344013.6 + 1 98 FXYD3_ENST00000435734.2_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000605552.1_Intron|FXYD3_ENST00000454903.2_Intron|FXYD3_ENST00000603449.1_Intron|FXYD3_ENST00000406242.3_Intron|FXYD3_ENST00000346446.5_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000604804.1_Intron Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) chloride channel activity (GO:0005254) endometrium(1)|lung(2)|prostate(1) 4 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TGGGACTGGACGTTGTTTTGC 0.612 NA C||| 1584 0.316294 0.174 0.281 5008 , , NA 17595 0.246 NA 0.4006 False NA ,,, NA NA NA 2504 0.5194 NA NA NA NA 0 C ,,,,,,, 303,1081 35,233,424 45 45 45 ,,,,,,, -4.3 0 19 dbSNP_89 45 1319,1863 276,767,548 no intron,intron,intron,intron,intron,intron,intron,intron FXYD3 NM_001136007.1,NM_001136008.1,NM_001136009.1,NM_001136010.1,NM_001136011.1,NM_001136012.1,NM_005971.3,NM_021910.2 ,,,,,,, 311,1000,972 TT,TC,CC 41.4519,21.8931,35.5234 ,,,,,,, ,,,,,,, 35608148 1622,2944 692 1591 2283 SO:0001627 intron_variant X93036 CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1 19q13.11-q13.12 2008-05-14 2002-01-14 ENSG00000089356 5349 4027 protein-coding gene gene with protein product 604996 FXYD domain-containing ion transport regulator 3 PLML NA 7836447, 10950925 Standard NM_021910 NM_005971 NA Approved MAT-8 uc010xsm.2 Q14802 ENST00000344013.6:c.-99+885C>T chr19.hg19:g.35608148C>T NA A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59 hg19 CCDS12442.1 0.02 2.217915 GGAxGTT COVERED NOVEL FXYD3-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000468985.1 0 3.009909 KEEP 0 0 0 10 363 CC 0.992708 0.986456 0 + 6 60 221 0 0 16.27695 59 60 2091 87 ENST00000344013.6 0.092308 0.993703 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35615995 35615995 __UNKNOWN__ 3'UTR SNP C C T rs14358 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35615995C>T ENST00000310123.3 - 0 2235 LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ACGTGGCCCACGGTCAGCAGC 0.642 NA T||| 1806 0.360623 0.3147 0.2493 5008 , , NA 15031 0.2679 NA 0.3698 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.*102G>A chr19.hg19:g.35615995C>T NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 4.203567 CCAxGGT COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 1 13.843733 KEEP 0 0 0 46 1567 CC 1 1 0 - 13 60 473 0 0 34.588743 130 60 4562 200 ENST00000310123.3 0.090909 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616016 35616016 __UNKNOWN__ 3'UTR SNP G G A rs1048690 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616016G>A ENST00000310123.3 - 0 2214 LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TCACAGGCGGGCCATCACCCC 0.632 NA G||| 1714 0.342252 0.2935 0.2493 5008 , , NA 13992 0.253 NA 0.3698 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.*81C>T chr19.hg19:g.35616016G>A NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 3.714 CGGxCCA COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 2 16.470454 KEEP 0 0 0 55 1851 GG 1 1 0 - 13 60 423 0 0 29.651044 129 60 4611 212 ENST00000310123.3 0.091549 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616086 35616086 __UNKNOWN__ 3'UTR SNP C C T rs11084800 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616086C>T ENST00000310123.3 - 0 2144 LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CCCAGAGTCCCGTTGGTGGTC 0.642 NA C||| 1803 0.360024 0.3132 0.2493 5008 , , NA 15726 0.2669 NA 0.3698 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 C 1459,2947 462.6+/-353.3 227,1005,971 36 35 35 -0.1 0 19 dbSNP_120 35 3065,5535 463.3+/-365.9 529,2007,1764 no utr-3 LGI4 NM_139284.2 756,3012,2735 TT,TC,CC 35.6395,33.1139,34.7839 35616086 4524,8482 2203 4300 6503 SO:0001624 3_prime_UTR_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.*11G>A chr19.hg19:g.35616086C>T NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 11.757963 TCCxGTT COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 3 50.563732 KEEP 0 0 0 168 5927 CC 1 1 0 - 16 60 596 0 0 41.251201 240 60 9021 547 ENST00000310123.3 0.0625 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616315 35616315 __UNKNOWN__ Silent SNP G G A rs12610146|rs36102542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616315G>A ENST00000310123.3 - 9 1915 c.1396C>T c.(1396-1398)Ctg>Ttg p.L466L LGI4_ENST00000392225.3_Silent_p.S491S|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 466 NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) AGGATGGCCAGCTGGTCCCTG 0.662 NA G||| 1805 0.360423 0.3132 0.2493 5008 , , NA 14278 0.2688 NA 0.3698 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 G 1451,2955 229,993,981 22 22 22 1396 3 1 19 dbSNP_120 22 3050,5548 528,1994,1777 no coding-synonymous LGI4 NM_139284.2 757,2987,2758 AA,AG,GG 35.4734,32.9324,34.6124 466/538 35616315 4501,8503 2203 4299 6502 SO:0001819 synonymous_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1396C>T chr19.hg19:g.35616315G>A NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 6.337286 CCAxCTG COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 2 31.242106 KEEP 0 0 0 104 3633 GG 1 1 0 - 7 60 260 0 0 16.616157 166 60 6214 338 ENST00000310123.3 0.040462 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616316 35616316 __UNKNOWN__ Silent SNP C C T rs12610234|rs36102542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616316C>T ENST00000310123.3 - 9 1914 c.1395G>A c.(1393-1395)caG>caA p.Q465Q LGI4_ENST00000392225.3_Missense_Mutation_p.S491N|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 465 NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGATGGCCAGCTGGTCCCTGG 0.667 NA C||| 1804 0.360224 0.3132 0.2493 5008 , , NA 14380 0.2679 NA 0.3698 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 C 1450,2956 229,992,982 22 22 22 1395 5.1 1 19 dbSNP_120 22 3054,5544 529,1996,1774 no coding-synonymous LGI4 NM_139284.2 758,2988,2756 TT,TC,CC 35.5199,32.9097,34.6355 465/538 35616316 4504,8500 2203 4299 6502 SO:0001819 synonymous_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1395G>A chr19.hg19:g.35616316C>T NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 6.636885 CAGxTGG COVERED 601 0.2751831501831502 143 0.29065040650406504 78 0.2154696132596685 125 0.21853146853146854 255 0.33641160949868076 C 15.04 2.716225 0.48622 0.329097 0.355199 ENSG00000153902 ENST00000392225 T 0.68025 -0.3 5.09 5.09 0.68999 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.27938 -1.0059 5 0.87932 D 0 . 9.5979 0.39584 0.0:0.9042:0.0:0.0958 rs12610234 . . . N 491 ENSP00000376059:S491N ENSP00000376059:S491N S - 2 0 LGI4 40308156 1.000000 0.71417 1.000000 0.80357 0.944000 0.59088 1.746000 0.38288 2.363000 0.80096 0.484000 0.47621 AGC NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 2 31.285129 KEEP 0 0 0 104 3623 CC 1 1 0 - 7 60 256 0 0 16.217449 166 60 6154 338 ENST00000310123.3 0.040462 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616464 35616464 __UNKNOWN__ Intron SNP G G C rs12976269 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616464G>C ENST00000310123.3 - 9 1819 LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TCTGGGGGCCGTGGAACAGCT 0.597 NA C||| 1805 0.360423 0.3132 0.2493 5008 , , NA 13981 0.2679 NA 0.3708 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1300-53C>G chr19.hg19:g.35616464G>C NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 4.688701 GCCxTGG COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 3 15.947137 KEEP 0 0 0 53 1776 GG 1 0.999999 0 - 9 60 330 0 0 23.289461 115 60 3840 192 ENST00000310123.3 0.072581 0.999999 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616562 35616562 __UNKNOWN__ Intron SNP C C G rs12978414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616562C>G ENST00000310123.3 - 9 1819 LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) cacacacatgcagttgttctg 0.522 NA C||| 1805 0.360423 0.3132 0.2493 5008 , , NA 19335 0.2679 NA 0.3708 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1300-151G>C chr19.hg19:g.35616562C>G NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 12.02432 ATGxAGT COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 3 37.322495 KEEP 0 0 0 124 4482 CC 1 1 0 - 15 60 567 0 0 38.048555 283 60 10666 537 ENST00000310123.3 0.050336 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616663 35616663 __UNKNOWN__ Intron SNP A A G rs1630545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616663A>G ENST00000310123.3 - 9 1819 LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) ttctcccaccacctctggctg 0.587 NA A||| 1805 0.360423 0.3132 0.2493 5008 , , NA 17615 0.2679 NA 0.3708 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1300-252T>C chr19.hg19:g.35616663A>G NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 16.23769 ACCxCCT COVERED 679 0.3108974358974359 167 0.3394308943089431 85 0.23480662983425415 137 0.2395104895104895 290 0.38258575197889183 A 12.31 1.901099 0.33535 . . ENSG00000153902 ENST00000437421 . . . 2.96 0.838 0.18902 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.39941 -0.9589 4 0.62326 D 0.03 . 2.4284 0.04465 0.2543:0.1401:0.0:0.6056 rs1630545;rs61602735 . . . A 434 . ENSP00000407230:V434A V - 2 0 LGI4 40308503 0.000000 0.05858 0.000000 0.03702 0.361000 0.29550 -0.312000 0.08113 0.102000 0.17638 -0.710000 0.03640 GTG NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 4 47.016707 KEEP 0 1 7 159 4804 AA 1 1 0 - 16 60 520 0 0 32.093393 335 60 11179 674 ENST00000310123.3 0.045584 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616692 35616692 __UNKNOWN__ Intron SNP C C T rs1672976 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616692C>T ENST00000310123.3 - 9 1819 LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) cccctcctgactggaccatcc 0.577 NA C||| 1805 0.360423 0.3132 0.2493 5008 , , NA 17623 0.2679 NA 0.3708 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1300-281G>A chr19.hg19:g.35616692C>T NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 13.700979 TGAxTGG COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 4 40.332043 KEEP 0 0 0 134 4858 CC 1 1 0 - 17 60 641 0 0 43.317877 305 60 11494 582 ENST00000310123.3 0.052795 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35616953 35616953 __UNKNOWN__ Intron SNP T T C rs1632457 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35616953T>C ENST00000310123.3 - 8 1819 LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GAGCCAGCATTTGGGGGTAGA 0.587 NA C||| 1805 0.360423 0.3132 0.2493 5008 , , NA 18987 0.2679 NA 0.3708 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1299+220A>G chr19.hg19:g.35616953T>C NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 1.933347 CATxTGG COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 3 2.706526 KEEP 0 0 0 9 253 TT 0.99254 0.99222 0 - 5 60 187 0 0 12.803257 81 60 2776 97 ENST00000310123.3 0.05814 0.999678 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35617122 35617122 __UNKNOWN__ Intron SNP A A G rs937087 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35617122A>G ENST00000310123.3 - 8 1819 LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) TTAGTGTGCAAGATTGGGTCA 0.597 NA A||| 1719 0.343251 0.2958 0.2493 5008 , , NA 16387 0.254 NA 0.3708 False NA ,,, NA NA NA 2504 0.5378 NA NA NA NA 0 A 546,1204 84,378,413 12 13 13 -0.9 0 19 dbSNP_86 13 1351,2625 223,905,860 no intron LGI4 NM_139284.2 307,1283,1273 GG,GA,AA 33.9789,31.2,33.1296 35617122 1897,3829 875 1988 2863 SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1299+51T>C chr19.hg19:g.35617122A>G NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 19.812349 GCAxGAT COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 2 34.30337 KEEP 0 0 0 114 3616 AA 1 1 0 - 19 60 733 0 0 49.015023 389 60 14086 644 ENST00000310123.3 0.046569 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35617270 35617270 __UNKNOWN__ Silent SNP T T C rs1319969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35617270T>C ENST00000310123.3 - 8 1722 c.1203A>G c.(1201-1203)acA>acG p.T401T LGI4_ENST00000392225.3_Missense_Mutation_p.Q427R|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 401 NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CGGGGATGTCTGTGCGTCTCT 0.667 NA T||| 1835 0.366414 0.3359 0.2493 5008 , , NA 13875 0.2669 NA 0.3708 False NA ,,, NA NA NA 2504 0.589 NA NA NA NA 0 T 1566,2840 452.0+/-349.9 280,1006,917 29 28 28 1203 -9 0.3 19 dbSNP_88 28 3066,5534 438.8+/-359.0 529,2008,1763 no coding-synonymous LGI4 NM_139284.2 809,3014,2680 CC,CT,TT 35.6512,35.5424,35.6143 401/538 35617270 4632,8374 2203 4300 6503 SO:0001819 synonymous_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.1203A>G chr19.hg19:g.35617270T>C NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 11.596004 GTCxGTG COVERED 694 0.31776556776556775 183 0.3719512195121951 85 0.23480662983425415 136 0.23776223776223776 290 0.38258575197889183 T 8.894 0.954608 0.18431 0.355424 0.356512 ENSG00000153902 ENST00000392225 T 0.65732 -0.17 4.51 -9.02 0.00741 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999394594 . . . . . . T 0.39292 -0.9621 5 0.87932 D 0 . 10.368 0.44035 0.0:0.126:0.3738:0.5002 rs1319969;rs3810442;rs17656168;rs61511650 . . . R 427 ENSP00000376059:Q427R ENSP00000376059:Q427R Q - 2 0 LGI4 40309110 0.000000 0.05858 0.336000 0.25522 0.936000 0.57629 -4.585000 0.00212 -2.941000 0.00297 -1.540000 0.00911 CAG NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 3 44.226577 KEEP 0 0 0 147 4478 TT 1 1 0 - 13 60 435 0 0 26.468004 288 60 10278 560 ENST00000310123.3 0.043189 1 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35617639 35617639 __UNKNOWN__ Silent SNP C C G rs1687998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35617639C>G ENST00000310123.3 - 8 1353 c.834G>C c.(832-834)ccG>ccC p.P278P LGI4_ENST00000392225.3_Missense_Mutation_p.R304P|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 278 NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CGAAGAGGCTCGGGCCCAGCA 0.741 NA C||| 1718 0.343051 0.2965 0.2493 5008 , , NA 12239 0.254 NA 0.3708 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 C 730,2116 146,438,839 2 3 3 834 -8.7 0.4 19 dbSNP_89 3 1965,4439 401,1163,1638 no coding-synonymous LGI4 NM_139284.2 547,1601,2477 GG,GC,CC 30.6839,25.65,29.1351 278/538 35617639 2695,6555 1423 3202 4625 SO:0001819 synonymous_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.834G>C chr19.hg19:g.35617639C>G NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 4.77482 GCTxGGG COVERED 663 0.30357142857142855 157 0.31910569105691056 85 0.23480662983425415 131 0.229020979020979 290 0.38258575197889183 C 8.226 0.803486 0.16397 0.2565 0.306839 ENSG00000153902 ENST00000392225 T 0.63417 -0.04 4.35 -8.69 0.00855 . . . . . T 0.00012 0.0000 . . . 0.39978 P 0.025124000000000035 . . . . . . T 0.14172 -1.0482 4 . . . . 7.4446 0.27203 0.0993:0.1544:0.588:0.1583 rs1687998;rs17712562;rs59273846 . . . P 304 ENSP00000376059:R304P . R - 2 0 LGI4 40309479 0.000000 0.05858 0.378000 0.26068 0.633000 0.38033 -0.796000 0.04575 -1.234000 0.02548 -0.802000 0.03209 CGA NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 0 15.047204 KEEP 0 0 0 50 1664 CC 1 0.999996 0 - 6 60 233 0 0 16.228264 97 60 3473 199 ENST00000310123.3 0.058252 0.999996 LGI4 163175 __UNKNOWN__ __UNKNOWN__ 19 35622492 35622492 __UNKNOWN__ Intron SNP C C T rs1688001 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35622492C>T ENST00000310123.3 - 6 978 LGI4_ENST00000591633.1_Intron|LGI4_ENST00000392225.3_Intron|LGI4_ENST00000493050.1_Intron NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 NA NA adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551) extracellular space (GO:0005615) endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GGCTGCGACCCGGCTTCCACG 0.657 NA C||| 1752 0.34984 0.2194 0.245 5008 , , NA 13550 0.381 NA 0.3738 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 C 734,2912 77,580,1166 8 8 8 -1.8 0 19 dbSNP_89 8 2156,4792 347,1462,1665 no intron LGI4 NM_139284.2 424,2042,2831 TT,TC,CC 31.0305,20.1317,27.2796 35622492 2890,7704 1823 3474 5297 SO:0001627 intron_variant AJ487519 CCDS12444.1 19q13.13 2008-07-03 ENSG00000153902 ENSG00000153902 163175 18712 protein-coding gene gene with protein product 608303 NA 12023020 Standard NM_139284 NA Approved uc002nxx.2 Q8N135 OTTHUMG00000044558 ENST00000310123.3:c.459-33G>A chr19.hg19:g.35622492C>T NA B2RN53|B9EGS7|Q5M8T1 hg19 CCDS12444.1 0.02 2.154041 ACCxGGC COVERED NOVEL LGI4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000103963.1 0 13.241957 KEEP 0 0 0 44 1496 CC 1 0.999919 0 - 4 60 156 0 0 10.30778 91 60 3005 168 ENST00000310123.3 0.042105 0.999919 FXYD1 5348 __UNKNOWN__ __UNKNOWN__ 19 35632634 35632634 __UNKNOWN__ Intron SNP G G A rs12461849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35632634G>A ENST00000588081.1 + 4 264 FXYD1_ENST00000589209.1_Intron|FXYD1_ENST00000351325.4_Intron|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000455515.2_Intron|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000588607.1_Intron|FXYD1_ENST00000588715.1_Intron O00168 PLM_HUMAN FXYD domain containing ion transport regulator 1 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890) chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080) lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) ctgggaccaagcgaggaaaaa 0.612 NA G||| 1916 0.382588 0.3306 0.2608 5008 , , NA 14046 0.4018 NA 0.3708 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12445.1 19q13.1 2008-08-01 2008-08-01 ENSG00000266964 5348 4025 protein-coding gene gene with protein product 602359 phospholemman PLM NA 9169143 Standard NM_021902 NM_005031 NA Approved uc002nyc.3 O00168 ENST00000588081.1:c.206+158G>A chr19.hg19:g.35632634G>A NA A8K196 hg19 CCDS12445.1 0.02 1.736975 CAAxCGA COVERED NOVEL FXYD1-007 KNOWN alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460761.1 0 17.756578 KEEP 0 0 0 59 2119 GG 1 0.99994 0 + 5 60 178 0 0 11.63552 92 60 3470 182 ENST00000588081.1 0.051546 0.99994 FXYD1 5348 __UNKNOWN__ __UNKNOWN__ 19 35633236 35633236 __UNKNOWN__ Intron SNP G G A rs1687986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35633236G>A ENST00000588081.1 + 5 264 FXYD1_ENST00000589209.1_Intron|FXYD1_ENST00000351325.4_Intron|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000455515.2_Intron|LGI4_ENST00000493050.1_5'UTR|FXYD1_ENST00000588607.1_Intron|FXYD1_ENST00000588715.1_Intron O00168 PLM_HUMAN FXYD domain containing ion transport regulator 1 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890) chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080) lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) CCTCATTTCTGGCGGACCCCG 0.582 NA A||| 2288 0.456869 0.5416 0.2824 5008 , , NA 16577 0.4236 NA 0.3718 False NA ,,, NA NA NA 2504 0.5879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12445.1 19q13.1 2008-08-01 2008-08-01 ENSG00000266964 5348 4025 protein-coding gene gene with protein product 602359 phospholemman PLM NA 9169143 Standard NM_021902 NM_005031 NA Approved uc002nyc.3 O00168 ENST00000588081.1:c.207-140G>A chr19.hg19:g.35633236G>A NA A8K196 hg19 CCDS12445.1 0.02 3.950284 TCTxGCG COVERED NOVEL FXYD1-007 KNOWN alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460761.1 1 18.65573 KEEP 0 0 0 62 2178 GG 1 0.999998 0 + 6 60 205 0 0 13.092445 111 60 4194 221 ENST00000588081.1 0.051282 0.999998 FXYD1 5348 __UNKNOWN__ __UNKNOWN__ 19 35633503 35633503 __UNKNOWN__ Intron SNP C C G rs1673004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35633503C>G ENST00000588081.1 + 5 314 FXYD1_ENST00000589209.1_Intron|FXYD1_ENST00000351325.4_Intron|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000455515.2_Intron|FXYD1_ENST00000588607.1_Intron|FXYD1_ENST00000588715.1_Intron O00168 PLM_HUMAN FXYD domain containing ion transport regulator 1 NA NA chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|positive regulation of sodium ion export from cell (GO:1903278)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of heart contraction (GO:0008016)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|transmembrane transport (GO:0055085) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890) chloride channel activity (GO:0005254)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080) lung(3) 3 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849) TCCCTGGCTGCGTAGAGGGAA 0.672 NA C||| 1912 0.381789 0.3283 0.2622 5008 , , NA 12050 0.3998 NA 0.3708 False NA ,,, NA NA NA 2504 0.5317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12445.1 19q13.1 2008-08-01 2008-08-01 ENSG00000266964 5348 4025 protein-coding gene gene with protein product 602359 phospholemman PLM NA 9169143 Standard NM_021902 NM_005031 NA Approved uc002nyc.3 O00168 ENST00000588081.1:c.256+78C>G chr19.hg19:g.35633503C>G NA A8K196 hg19 CCDS12445.1 0.02 4.818087 CTGxGTA COVERED NOVEL FXYD1-007 KNOWN alternative_3_UTR|upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460761.1 0 13.240197 KEEP 0 0 0 44 1440 CC 1 1 0 + 10 60 372 0 0 26.63687 121 60 4180 181 ENST00000588081.1 0.076336 1 FXYD5 53827 __UNKNOWN__ __UNKNOWN__ 19 35648365 35648365 __UNKNOWN__ Missense_Mutation SNP T T G rs1688005 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35648365T>G ENST00000588699.1 + 3 126 c.103T>G c.(103-105)Tca>Gca p.S35A FXYD5_ENST00000342879.3_Missense_Mutation_p.S35A|FXYD5_ENST00000423817.3_Missense_Mutation_p.S35A|FXYD5_ENST00000541435.2_Missense_Mutation_p.S35A|FXYD5_ENST00000543307.1_Missense_Mutation_p.S35A|FXYD5_ENST00000392219.2_Missense_Mutation_p.S35A|FXYD5_ENST00000590686.1_Missense_Mutation_p.S35A|FXYD5_ENST00000392218.2_Missense_Mutation_p.S35A Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 35 NA S -> A (in dbSNP:rs1688005). microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588) integral component of membrane (GO:0016021) actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216) endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) TTCAGCAGACTCAACTATCAT 0.507 NA T||| 2065 0.41234 0.3359 0.3487 5008 , , NA 18878 0.7976 NA 0.2565 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 T ALA/SER,ALA/SER,ALA/SER 1434,2972 465.1+/-354.1 228,978,997 99 80 87 103,103,103 -4.6 0 19 dbSNP_89 87 2165,6435 370.2+/-335.8 276,1613,2411 yes missense,missense,missense FXYD5 NM_001164605.1,NM_014164.5,NM_144779.2 99,99,99 504,2591,3408 GG,GT,TT 25.1744,32.5465,27.6718 benign,benign,benign 35/179,35/179,35/179 35648365 3599,9407 2203 4300 6503 SO:0001583 missense AF161462 CCDS12447.1 19q13.12 2008-02-05 2002-01-14 ENSG00000089327 ENSG00000089327 53827 4029 protein-coding gene gene with protein product dysadherin 606669 FXYD domain-containing ion transport regulator 5 NA Standard NM_014164 NM_144779 NA Approved OIT2 uc002nyg.2 Q96DB9 OTTHUMG00000048092 ENST00000588699.1:c.103T>G chr19.hg19:g.35648365T>G ENSP00000467053:p.Ser35Ala NA B7WNZ8|Q6UW44|Q9HC34|Q9P039 hg19 0.02 5.760221 GACxCAA COVERED 980 0.44871794871794873 182 0.3699186991869919 138 0.3812154696132597 462 0.8076923076923077 198 0.2612137203166227 T 0.400 -0.918670 0.02396 0.325465 0.251744 ENSG00000089327 ENST00000543307;ENST00000392218;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817 T;T;T;T;T;T 0.65549 -0.16;0.78;0.86;0.86;0.86;0.86 3.08 -4.58 0.03410 . 2.674210 0.01182 N 0.007109 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.40021 -0.9585 9 0.20046 T 0.44 5.8774 0.6587 0.00838 0.1711:0.2827:0.1683:0.3778 rs1688005;rs17719100;rs57430720;rs1688005 35;35 F5H4X8;Q96DB9 .;FXYD5_HUMAN A 35 ENSP00000444839:S35A;ENSP00000376052:S35A;ENSP00000376053:S35A;ENSP00000443390:S35A;ENSP00000344254:S35A;ENSP00000393848:S35A ENSP00000344254:S35A S + 1 0 FXYD5 40340205 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -2.286000 0.01152 -0.698000 0.05085 -0.783000 0.03347 TCA NOVEL FXYD5-010 NOVEL alternative_3_UTR|alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000460664.1 0 13.52597 KEEP 0 0 0 45 1416 TT 1 1 0 + 8 60 276 0 0 17.154095 175 60 6356 275 ENST00000588699.1 0.043716 1 AC002511.1 0 __UNKNOWN__ __UNKNOWN__ 19 35898859 35898859 __UNKNOWN__ lincRNA SNP T T C rs12979319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35898859T>C ENST00000536898.1 + 0 1448 NR_040046.1 NA NA NA GTGACCCTCTTCAACTTCCTG 0.577 NA T||| 381 0.0760783 0.0265 0.0461 5008 , , NA 15806 0.1746 NA 0.0706 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000536898.1: chr19.hg19:g.35898859T>C NA hg19 0.02 11.478548 TCTxCAA COVERED NOVEL AC002511.1-002 KNOWN basic lincRNA NA lincRNA OTTHUMT00000466118.1 1 8.425921 KEEP 0 0 0 28 905 TT 0.999997 0.999997 0 + 8 60 308 0 0 18.987434 261 60 9449 370 ENST00000536898.1 0.02974 1 DMKN 93099 __UNKNOWN__ __UNKNOWN__ 19 35998213 35998213 __UNKNOWN__ Intron SNP A A C rs4358061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35998213A>C ENST00000339686.3 - 8 1215 DMKN_ENST00000419602.1_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000392206.2_Intron|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000418261.1_Intron|DMKN_ENST00000474928.1_Intron|DMKN_ENST00000447113.2_Intron|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000440396.1_Intron|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000458071.1_Intron|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000424570.2_Intron|DMKN_ENST00000436012.1_Intron NM_033317.4 NP_201574 Q6E0U4 DMKN_HUMAN dermokine NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGATCCCAGAACCCTGTTTTG 0.418 NA C||| 1983 0.395966 0.4539 0.3199 5008 , , NA 20773 0.4772 NA 0.3042 False NA ,,, NA NA NA 2504 0.3824 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC035311 CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1 19q13.12 2008-10-27 ENSG00000161249 ENSG00000161249 93099 25063 protein-coding gene gene with protein product NA 16374476 Standard NM_033317 NM_001035516 NA Approved ZD52F10 uc002nzm.4 Q6E0U4 OTTHUMG00000048101 ENST00000339686.3:c.1039-1325T>G chr19.hg19:g.35998213A>C NA A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6 hg19 CCDS12463.1 0.02 6.792727 AGAxCCC COVERED NOVEL DMKN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000109461.2 0 9.026493 KEEP 0 0 0 30 941 AA 0.999997 0.999997 0 - 8 60 288 0 0 18.432263 171 60 6148 247 ENST00000339686.3 0.044693 1 DMKN 93099 __UNKNOWN__ __UNKNOWN__ 19 35998362 35998362 __UNKNOWN__ Silent SNP T T G rs4254439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:35998362T>G ENST00000447113.2 - 9 1308 c.1126A>C c.(1126-1128)Agg>Cgg p.R376R DMKN_ENST00000419602.1_Silent_p.R315R|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000392206.2_Intron|DMKN_ENST00000461300.1_Intron|DMKN_ENST00000339686.3_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000418261.1_Intron|DMKN_ENST00000474928.1_Intron|DMKN_ENST00000443640.1_Silent_p.R89R|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000440396.1_Silent_p.R376R|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000458071.1_Intron|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000488892.1_Intron|DMKN_ENST00000424570.2_Intron|DMKN_ENST00000436012.1_Intron NM_001190348.1 NP_001177277.1 Q6E0U4 DMKN_HUMAN dermokine 0 NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AGGCTCACCCTATAATTGTCT 0.507 NA G||| 1927 0.384784 0.4455 0.3184 5008 , , NA 18711 0.4425 NA 0.3022 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 94 84 87 NA NA 19 NA 35998362 692 1591 2283 SO:0001819 synonymous_variant BC035311 CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1 19q13.12 2008-10-27 ENSG00000161249 ENSG00000161249 93099 25063 protein-coding gene gene with protein product NA 16374476 Standard NM_033317 NM_001035516 NA Approved ZD52F10 uc002nzm.4 Q6E0U4 OTTHUMG00000048101 ENST00000447113.2:c.1126A>C chr19.hg19:g.35998362T>G NA A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6 hg19 CCDS54252.1 0.02 9.336755 CCCxATA COVERED 837 0.38324175824175827 224 0.45528455284552843 108 0.2983425414364641 269 0.47027972027972026 236 0.3113456464379947 G 8.948 0.967522 0.18659 . . ENSG00000161249 ENST00000434389 . . . 3.66 3.66 0.41972 . . . . . . . . . . . 0.20074 P 0.9999308811 . . . . . . . . . . . . . . 8.7274 0.34478 0.0:0.0:0.7736:0.2264 rs4254439;rs59459723 . . . S 56 . . X - 2 0 DMKN 40690202 0.932000 0.31603 0.543000 0.28128 0.000000 0.00434 1.913000 0.39956 1.133000 0.42147 -0.121000 0.15023 TAG NOVEL DMKN-004 NOVEL basic|CCDS protein_coding NA protein_coding OTTHUMT00000339716.1 3 15.647352 KEEP 0 0 0 52 1643 TT 1 1 0 - 12 60 460 0 0 31.041665 228 60 8279 365 ENST00000447113.2 0.05 1 DMKN 93099 __UNKNOWN__ __UNKNOWN__ 19 36003430 36003430 __UNKNOWN__ Intron SNP C C T rs7254784 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36003430C>T ENST00000339686.3 - 3 804 DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_Intron|DMKN_ENST00000447113.2_Intron|DMKN_ENST00000440396.1_Intron|DMKN_ENST00000451297.2_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000424570.2_Intron NM_033317.4 NP_201574 Q6E0U4 DMKN_HUMAN dermokine NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGGGAGGCACGCGGAGCATG 0.607 NA C||| 1761 0.351637 0.2821 0.3689 5008 , , NA 18476 0.5456 NA 0.2475 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 C ,,,,,, 1207,3199 421.9+/-339.5 159,889,1155 83 85 84 ,,,,,, -9.3 0 19 dbSNP_116 84 2048,6552 355.9+/-330.1 255,1538,2507 no intron,intron,intron,intron,intron,intron,intron DMKN NM_001126056.2,NM_001126057.2,NM_001126058.2,NM_001190347.1,NM_001190348.1,NM_001190349.1,NM_033317.4 ,,,,,, 414,2427,3662 TT,TC,CC 23.814,27.3945,25.0269 ,,,,,, ,,,,,, 36003430 3255,9751 2203 4300 6503 SO:0001627 intron_variant BC035311 CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1 19q13.12 2008-10-27 ENSG00000161249 ENSG00000161249 93099 25063 protein-coding gene gene with protein product NA 16374476 Standard NM_033317 NM_001035516 NA Approved ZD52F10 uc002nzm.4 Q6E0U4 OTTHUMG00000048101 ENST00000339686.3:c.628-51G>A chr19.hg19:g.36003430C>T NA A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6 hg19 CCDS12463.1 0.02 10.181388 GCAxGCG COVERED NOVEL DMKN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000109461.2 3 8.124353 KEEP 0 0 0 27 901 CC 0.999988 0.999988 0 - 9 60 314 0 0 18.28069 282 60 9657 356 ENST00000339686.3 0.030928 1 DMKN 93099 __UNKNOWN__ __UNKNOWN__ 19 36004171 36004171 __UNKNOWN__ Missense_Mutation SNP C C A rs12460932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36004171C>A ENST00000339686.3 - 1 383 c.207G>T c.(205-207)gaG>gaT p.E69D DMKN_ENST00000419602.1_Missense_Mutation_p.E69D|DMKN_ENST00000418261.1_Missense_Mutation_p.E69D|DMKN_ENST00000447113.2_Missense_Mutation_p.E69D|DMKN_ENST00000440396.1_Missense_Mutation_p.E69D|DMKN_ENST00000451297.2_Missense_Mutation_p.E69D|DMKN_ENST00000429837.1_Missense_Mutation_p.E69D|DMKN_ENST00000424570.2_Missense_Mutation_p.E69D NM_033317.4 NP_201574 Q6E0U4 DMKN_HUMAN dermokine 69 Gly-rich. NA E -> D (in dbSNP:rs12460932). extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GGCCAAGGGCCTCACTGACTT 0.627 NA C||| 1585 0.316494 0.3994 0.3357 5008 , , NA 17452 0.3542 NA 0.1431 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 C ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU,ASP/GLU 1706,2700 516.7+/-369.2 344,1018,841 131 109 117 207,207,207,207,207,207,207 -5.7 0 19 dbSNP_120 117 1252,7348 250.3+/-277.2 106,1040,3154 yes missense,missense,missense,missense,missense,missense,missense DMKN NM_001126056.2,NM_001126057.2,NM_001126058.2,NM_001190347.1,NM_001190348.1,NM_001190349.1,NM_033317.4 45,45,45,45,45,45,45 450,2058,3995 AA,AC,CC 14.5581,38.7199,22.7433 benign,benign,benign,benign,benign,benign,benign 69/466,69/399,69/387,69/450,69/437,69/370,69/477 36004171 2958,10048 2203 4300 6503 SO:0001583 missense BC035311 CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1 19q13.12 2008-10-27 ENSG00000161249 ENSG00000161249 93099 25063 protein-coding gene gene with protein product NA 16374476 Standard NM_033317 NM_001035516 NA Approved ZD52F10 uc002nzm.4 Q6E0U4 OTTHUMG00000048101 ENST00000339686.3:c.207G>T chr19.hg19:g.36004171C>A ENSP00000342012:p.Glu69Asp NA A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6 hg19 CCDS12463.1 0.02 10.519377 GGCxTCA COVERED 592 0.27106227106227104 181 0.3678861788617886 98 0.27071823204419887 204 0.35664335664335667 109 0.1437994722955145 C 13.20 2.165566 0.38217 0.387199 0.145581 ENSG00000161249 ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297 T;T;T;T;T;T;T;T 0.18016 2.75;2.51;2.51;2.27;2.27;2.26;2.26;2.24 2.87 -5.74 0.02391 . 1.443180 0.04827 N 0.438056 T 0.00012 0.0000 N 0.03154 -0.405 0.80722 P 0.0 B;D;D;B;B;B;B 0.56035 0.002;0.974;0.974;0.002;0.0;0.0;0.0 B;D;D;B;B;B;B 0.70487 0.0;0.969;0.969;0.0;0.0;0.0;0.0 T 0.17776 -1.0358 9 0.40728 T 0.16 0.0114 8.0196 0.30402 0.216:0.6689:0.1151:0.0 rs12460932;rs61157480;rs12460932 69;69;69;69;69;69;69 E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4 .;.;.;.;.;.;DMKN_HUMAN D 69 ENSP00000342012:E69D;ENSP00000405503:E69D;ENSP00000391036:E69D;ENSP00000394908:E69D;ENSP00000415277:E69D;ENSP00000414743:E69D;ENSP00000388404:E69D;ENSP00000409513:E69D ENSP00000342012:E69D E - 3 2 DMKN 40696011 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.678000 0.05209 -0.832000 0.04251 -0.555000 0.04198 GAG NOVEL DMKN-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000109461.2 1 9.029101 KEEP 0 0 0 30 1052 CC 0.999997 0.999997 0 - 10 60 356 0 0 21.714767 266 60 9752 344 ENST00000339686.3 0.036232 1 SBSN 374897 __UNKNOWN__ __UNKNOWN__ 19 36015727 36015727 __UNKNOWN__ Intron SNP G G T rs73030916 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36015727G>T ENST00000452271.2 - 2 1733 SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACTCCCAGGGGCCTCCTCTCC 0.597 NA G||| 876 0.17492 0.0242 0.2968 5008 , , NA 17663 0.3532 NA 0.1004 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 G ,, 169,4237 112.5+/-150.6 2,165,2036 109 101 104 ,, 0.4 0 19 dbSNP_130 104 833,7767 191.4+/-237.6 44,745,3511 no intron,intron,intron SBSN NM_001166034.1,NM_001166035.1,NM_198538.3 ,, 46,910,5547 TT,TG,GG 9.686,3.8357,7.7041 ,, ,, 36015727 1002,12004 2203 4300 6503 SO:0001627 intron_variant AY358701 CCDS12464.1, CCDS54253.1 19q13.13 2008-02-05 374897 24950 protein-coding gene gene with protein product 609969 NA 12228223 Standard NM_198538 NM_198538 NA Approved UNQ698, HLAR698 uc002oad.2 Q6UWP8 ENST00000452271.2:c.1704+33C>A chr19.hg19:g.36015727G>T NA A8K5J0|E9PBV3 hg19 CCDS54253.1 0.02 14.353704 GGGxCCT COVERED NOVEL SBSN-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109463.3 1 8.064137 KEEP 0 0 0 27 931 GG 0.999988 0.999988 0 - 16 60 574 0 0 35.967593 379 60 13973 518 ENST00000452271.2 0.040506 1 SBSN 374897 __UNKNOWN__ __UNKNOWN__ 19 36018272 36018272 __UNKNOWN__ Silent SNP C C T rs12461911 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36018272C>T ENST00000452271.2 - 1 940 c.912G>A c.(910-912)gcG>gcA p.A304A SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 304 Ala/Gly/His-rich. NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGGCCTGCCCCGCAGCATGGT 0.652 NA c||| 1051 0.209864 0.0371 0.3401 5008 , , NA 21069 0.3631 NA 0.1392 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 A ,, 86,1298 3,80,609 29 37 34 912,, -8.9 0 19 dbSNP_120 34 440,2742 33,374,1184 no coding-synonymous,intron,intron SBSN NM_001166034.1,NM_001166035.1,NM_198538.3 ,, 36,454,1793 TT,TC,CC 13.8278,6.2139,11.5199 ,, 304/591,, 36018272 526,4040 692 1591 2283 SO:0001819 synonymous_variant AY358701 CCDS12464.1, CCDS54253.1 19q13.13 2008-02-05 374897 24950 protein-coding gene gene with protein product 609969 NA 12228223 Standard NM_198538 NM_198538 NA Approved UNQ698, HLAR698 uc002oad.2 Q6UWP8 ENST00000452271.2:c.912G>A chr19.hg19:g.36018272C>T NA A8K5J0|E9PBV3 hg19 CCDS54253.1 0.02 11.079972 CCCxGCA COVERED NOVEL SBSN-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109463.3 5 11.435877 KEEP 0 0 0 38 1310 CC 1 1 0 - 8 60 293 0 0 17.493916 261 60 8934 380 ENST00000452271.2 0.02974 1 RBM42 79171 __UNKNOWN__ __UNKNOWN__ 19 36128295 36128295 __UNKNOWN__ Intron SNP G G A rs2285416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36128295G>A ENST00000262633.4 + 9 1435 RBM42_ENST00000592202.1_Intron|RBM42_ENST00000360475.4_Intron|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Intron|RBM42_ENST00000588161.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGCGGCAGGCGCTGGCCTAAG 0.637 NA G||| 1386 0.276757 0.4826 0.3357 5008 , , NA 13568 0.3353 NA 0.1342 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G 1883,2523 529.5+/-372.7 386,1111,706 46 42 43 -9.9 0 19 dbSNP_100 43 1197,7403 237.9+/-269.6 90,1017,3193 no intron RBM42 NM_024321.3 476,2128,3899 AA,AG,GG 13.9186,42.7372,23.6814 36128295 3080,9926 2203 4300 6503 SO:0001627 intron_variant BC004204 CCDS12468.1 19q13.12 2013-02-12 ENSG00000126254 79171 RNA binding motif (RRM) containing 28117 protein-coding gene gene with protein product 613232 NA 12477932 Standard NM_024321 NM_024321 NA Approved MGC10433 uc002oan.3 Q9BTD8 ENST00000262633.4:c.1330+41G>A chr19.hg19:g.36128295G>A NA O00320|Q8N5R7|Q9BU66 hg19 CCDS12468.1 0.02 11.814057 GGCxCTG COVERED NOVEL RBM42-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459057.2 1 32.877494 KEEP 0 1 30 120 3928 GG 1 1 0 + 21 60 683 0 0 45.027828 289 60 9634 571 ENST00000262633.4 0.067742 1 KMT2B 9757 __UNKNOWN__ __UNKNOWN__ 19 36221051 36221051 __UNKNOWN__ Intron SNP G G A rs2242520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36221051G>A ENST00000222270.7 + 23 5076 KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Intron NM_014727.1 NP_055542.1 Q9UMN6 KMT2B_HUMAN lysine (K)-specific methyltransferase 2B NA NA chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NA TGGGGTACACGGTTCCTTCCC 0.582 NA A||| 1860 0.371406 0.4024 0.2853 5008 , , NA 19479 0.5476 NA 0.2078 False NA ,,, NA NA NA 2504 0.3773 NA NA NA NA 0 A 1513,2565 283,947,809 52 56 55 0.1 0 19 dbSNP_98 55 1371,7013 108,1155,2929 no intron MLL4 NM_014727.1 391,2102,3738 AA,AG,GG 16.3526,37.1015,23.1424 36221051 2884,9578 2039 4192 6231 SO:0001627 intron_variant AJ007041 CCDS46055.1 19q13.1 2014-02-18 ENSG00000105663 ENSG00000272333 9757 Chromatin-modifying enzymes / K-methyltransferases 15840 protein-coding gene gene with protein product myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4 606834 NA 10409430, 10637508 Standard NM_014727 XM_006723513 NA Approved KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4 Q9UMN6 OTTHUMG00000048119 ENST00000222270.7:c.5076+25G>A chr19.hg19:g.36221051G>A NA O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669 hg19 CCDS46055.1 0.02 4.285766 CACxGTT COVERED NOVEL KMT2B-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding 3 16.552573 KEEP 0 0 0 55 1876 GG 1 1 0 + 5 60 189 0 0 11.814085 142 60 4966 252 ENST00000222270.7 0.034014 1 C19orf55 0 __UNKNOWN__ __UNKNOWN__ 19 36259494 36259494 __UNKNOWN__ 3'UTR SNP C C A rs231216 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36259494C>A ENST00000544099.1 + 0 1554 C19orf55_ENST00000396908.4_3'UTR|C19orf55_ENST00000536037.1_Intron Q2NL68 PRSR3_HUMAN NA NA cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTTTTTTTTTCATACAGTTAC 0.468 NA A||| 1143 0.228235 0.3374 0.2608 5008 , , NA 13633 0.2808 NA 0.1252 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 58 68 65 NA NA 19 NA 36259494 876 1991 2867 SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000544099.1:c.*213C>A chr19.hg19:g.36259494C>A NA Q8NDI3|Q8WWC8|Q96NL4 hg19 0.02 3.674395 TTTxATA COVERED NOVEL C19orf55-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000398160.2 0 15.349682 KEEP 0 0 0 51 1784 CC 1 0.999978 0 + 6 60 210 1 0 13.982604 95 70 3633 191 ENST00000544099.1 0.059406 0.999978 ARHGAP33 115703 __UNKNOWN__ __UNKNOWN__ 19 36268471 36268471 __UNKNOWN__ Intron SNP G G A rs12982672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36268471G>A ENST00000314737.5 + 2 90 ARHGAP33_ENST00000007510.4_Intron|ARHGAP33_ENST00000378944.5_Intron NM_052948.3 NP_443180.2 O14559 RHG33_HUMAN Rho GTPase activating protein 33 NA NA protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675) endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 CTCTGGACCCGCGCTGCCAGA 0.617 NA g||| 487 0.0972444 0.0666 0.1441 5008 , , NA 18065 0.1429 NA 0.0875 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY044864 CCDS12477.1, CCDS54254.1 19q13.13 2011-06-29 2010-02-19 2010-02-19 ENSG00000004777 115703 Rho GTPase activating proteins 23085 protein-coding gene gene with protein product 614902 sorting nexin 26 SNX26 NA 12297274, 12461558 Standard NM_052948 NM_052948 NA Approved FLJ39019, TCGAP uc002obs.2 O14559 ENST00000314737.5:c.7-76G>A chr19.hg19:g.36268471G>A NA O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23 hg19 CCDS12477.1 0.02 4.200286 CCCxCGC COVERED NOVEL ARHGAP33-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000459120.1 1 10.531513 KEEP 0 0 0 35 1145 GG 0.999999 0.999999 0 + 5 60 187 0 0 11.818451 129 60 4362 201 ENST00000314737.5 0.037313 1 ARHGAP33 115703 __UNKNOWN__ __UNKNOWN__ 19 36271139 36271139 __UNKNOWN__ Silent SNP C C T rs231233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36271139C>T ENST00000314737.5 + 7 612 c.528C>T c.(526-528)ctC>ctT p.L176L ARHGAP33_ENST00000007510.4_Silent_p.L176L|ARHGAP33_ENST00000378944.5_Silent_p.L40L NM_052948.3 NP_443180.2 O14559 RHG33_HUMAN Rho GTPase activating protein 33 176 NA protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|plasma membrane (GO:0005886) phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675) endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GGCGACTGCTCCTCAGTGAGG 0.577 NA C||| 850 0.169728 0.323 0.1758 5008 , , NA 16454 0.1419 NA 0.0905 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 C , 1240,3166 426.8+/-341.3 177,886,1140 73 67 69 120,528 -2.6 1 19 dbSNP_79 69 854,7746 195.4+/-240.6 48,758,3494 no coding-synonymous,coding-synonymous ARHGAP33 NM_001172630.1,NM_052948.3 , 225,1644,4634 TT,TC,CC 9.9302,28.1434,16.1003 , 40/1124,176/1127 36271139 2094,10912 2203 4300 6503 SO:0001819 synonymous_variant AY044864 CCDS12477.1, CCDS54254.1 19q13.13 2011-06-29 2010-02-19 2010-02-19 ENSG00000004777 115703 Rho GTPase activating proteins 23085 protein-coding gene gene with protein product 614902 sorting nexin 26 SNX26 NA 12297274, 12461558 Standard NM_052948 NM_052948 NA Approved FLJ39019, TCGAP uc002obs.2 O14559 ENST00000314737.5:c.528C>T chr19.hg19:g.36271139C>T NA O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23 hg19 CCDS12477.1 0.02 12.164336 GCTxCTC COVERED NOVEL ARHGAP33-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000459120.1 2 20.767619 KEEP 0 0 0 69 2449 CC 1 1 0 + 13 60 460 0 0 28.339485 322 60 11924 509 ENST00000314737.5 0.038806 1 NPHS1 4868 __UNKNOWN__ __UNKNOWN__ 19 36334419 36334419 __UNKNOWN__ Silent SNP G G A rs437168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36334419G>A ENST00000378910.5 - 17 2288 c.2289C>T c.(2287-2289)gtC>gtT p.V763V NPHS1_ENST00000353632.6_Silent_p.V763V NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 763 Ig-like C2-type 7. NA cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519) cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) myosin binding (GO:0017022) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GATTGGCATCGACAGTGCAGA 0.587 NA A||| 970 0.19369 0.5113 0.0692 5008 , , NA 19940 0.1488 NA 0.0268 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 GRCh37 CI024197 NPHS1 I rs437168 A 1967,2439 619.5+/-393.4 433,1101,669 141 125 130 2289 -4.8 0 19 dbSNP_80 130 324,8276 805.1+/-407.3 2,320,3978 no coding-synonymous NPHS1 NM_004646.3 435,1421,4647 AA,AG,GG 3.7674,44.6437,17.6149 763/1242 36334419 2291,10715 2203 4300 6503 SO:0001819 synonymous_variant CCDS32996.1 19q12-q13.1 2014-09-17 ENSG00000161270 4868 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7908 protein-coding gene gene with protein product 602716 NA 9915943, 9660941 Standard NM_004646 NA Approved CNF, NPHN uc002oby.3 O60500 ENST00000378910.5:c.2289C>T chr19.hg19:g.36334419G>A NA A6NDH2|C3RX61 hg19 CCDS32996.1 0.02 13.225616 ATCxACA COVERED NOVEL NPHS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452553.1 1 11.435916 KEEP 0 0 0 38 1313 GG 1 1 0 - 10 60 372 0 0 22.823679 298 60 10883 419 ENST00000378910.5 0.032468 1 NPHS1 4868 __UNKNOWN__ __UNKNOWN__ 19 36342103 36342103 __UNKNOWN__ Intron SNP T T C rs412175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36342103T>C ENST00000378910.5 - 3 397 NPHS1_ENST00000353632.6_Intron NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) NA NA cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519) cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) myosin binding (GO:0017022) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACTTCCGGGTTGCGGGGTAGG 0.607 NA C||| 971 0.19389 0.5015 0.0764 5008 , , NA 16517 0.1429 NA 0.0278 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS32996.1 19q12-q13.1 2014-09-17 ENSG00000161270 4868 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7908 protein-coding gene gene with protein product 602716 NA 9915943, 9660941 Standard NM_004646 NA Approved CNF, NPHN uc002oby.3 O60500 ENST00000378910.5:c.397+60A>G chr19.hg19:g.36342103T>C NA A6NDH2|C3RX61 hg19 CCDS32996.1 0.02 7.080806 GGTxGCG COVERED NOVEL NPHS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452553.1 0 6.316549 KEEP 0 0 0 21 613 TT 0.999869 0.999869 0 - 8 60 260 0 0 14.495299 240 60 8440 312 ENST00000378910.5 0.032258 1 NPHS1 4868 __UNKNOWN__ __UNKNOWN__ 19 36342149 36342149 __UNKNOWN__ Intron SNP G G A rs78237760 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36342149G>A ENST00000378910.5 - 3 397 NPHS1_ENST00000353632.6_Intron NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) NA NA cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519) cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) myosin binding (GO:0017022) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGTCCTGGGCGTCTCTCACCC 0.637 NA G||| 65 0.0129792 0.0015 0.0 5008 , , NA 16876 0.0556 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 G 8,4398 14.3+/-33.2 0,8,2195 39 42 41 0.6 0.1 19 dbSNP_132 41 1,8599 1.2+/-3.3 0,1,4299 no intron NPHS1 NM_004646.3 0,9,6494 AA,AG,GG 0.0116,0.1816,0.0692 36342149 9,12997 2203 4300 6503 SO:0001627 intron_variant CCDS32996.1 19q12-q13.1 2014-09-17 ENSG00000161270 4868 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7908 protein-coding gene gene with protein product 602716 NA 9915943, 9660941 Standard NM_004646 NA Approved CNF, NPHN uc002oby.3 O60500 ENST00000378910.5:c.397+14C>T chr19.hg19:g.36342149G>A NA A6NDH2|C3RX61 hg19 CCDS32996.1 0.02 12.422329 GGCxTCT COVERED NOVEL NPHS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452553.1 0 7.824914 KEEP 0 0 0 26 878 GG 0.999957 0.999957 0 - 14 60 501 0 0 31.822732 306 60 10501 408 ENST00000378910.5 0.04375 1 NPHS1 4868 __UNKNOWN__ __UNKNOWN__ 19 36342267 36342267 __UNKNOWN__ Silent SNP G G A rs2285450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36342267G>A ENST00000378910.5 - 3 293 c.294C>T c.(292-294)atC>atT p.I98I NPHS1_ENST00000353632.6_Silent_p.I98I NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 98 Ig-like C2-type 1. NA cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519) cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057) myosin binding (GO:0017022) NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACAGGCCTCGATGTGCAGGT 0.632 NA G||| 366 0.0730831 0.1536 0.0216 5008 , , NA 17281 0.131 NA 0.0 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 G 526,3880 221.7+/-238.7 27,472,1704 23 23 23 294 0.4 0.5 19 dbSNP_100 23 16,8584 11.2+/-40.8 0,16,4284 no coding-synonymous NPHS1 NM_004646.3 27,488,5988 AA,AG,GG 0.186,11.9383,4.1673 98/1242 36342267 542,12464 2203 4300 6503 SO:0001819 synonymous_variant CCDS32996.1 19q12-q13.1 2014-09-17 ENSG00000161270 4868 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 7908 protein-coding gene gene with protein product 602716 NA 9915943, 9660941 Standard NM_004646 NA Approved CNF, NPHN uc002oby.3 O60500 ENST00000378910.5:c.294C>T chr19.hg19:g.36342267G>A NA A6NDH2|C3RX61 hg19 CCDS32996.1 0.02 11.63054 CTCxATG COVERED NOVEL NPHS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452553.1 1 12.941265 KEEP 0 0 0 43 1482 GG 1 1 0 - 9 60 324 0 0 18.631391 333 60 12104 461 ENST00000378910.5 0.026316 1 KIRREL2 84063 __UNKNOWN__ __UNKNOWN__ 19 36352565 36352565 __UNKNOWN__ Intron SNP C C A rs138023382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36352565C>A ENST00000360202.5 + 10 1488 NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Intron|KIRREL2_ENST00000262625.7_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) NA NA cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACTCCTCCCGTGACCCATC 0.622 NA C||| 29 0.00579073 0.0 0.0 5008 , , NA 15400 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C ,, 2,4404 2.1+/-5.4 0,2,2201 60 61 61 ,, 0.7 0 19 dbSNP_134 61 0,8600 0,0,4300 no intron,intron,intron KIRREL2 NM_032123.5,NM_199179.2,NM_199180.2 ,, 0,2,6501 AA,AC,CC 0.0,0.0454,0.0154 ,, ,, 36352565 2,13004 2203 4300 6503 SO:0001627 intron_variant AL136654 CCDS12479.1, CCDS12480.1, CCDS12481.1 19q13.13 2013-01-29 ENSG00000126259 84063 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 18816 protein-coding gene gene with protein product 607762 NA 12837264, 12504092 Standard NM_032123 NM_199180 NA Approved NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718 uc002ocb.4 Q6UWL6 ENST00000360202.5:c.1290+22C>A chr19.hg19:g.36352565C>A NA C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1 hg19 CCDS12481.1 0.02 4.287947 TCCxGTG COVERED NOVEL KIRREL2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000452561.1 1 4.81498 KEEP 0 0 0 16 535 CC 0.997832 0.997831 0 + 7 60 252 1 0 16.854251 117 60 3846 162 ENST00000360202.5 0.056452 0.999999 APLP1 333 __UNKNOWN__ __UNKNOWN__ 19 36365684 36365684 __UNKNOWN__ Silent SNP G G T rs2228998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36365684G>T ENST00000221891.4 + 10 1449 c.1257G>T c.(1255-1257)gcG>gcT p.A419A APLP1_ENST00000586861.1_Silent_p.A413A|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Silent_p.A380A NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 419 Heparin-binding. {ECO:0000250}. NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417) basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914) breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACCTGCGTGCGGAGCAGAAGG 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 G , 34,4372 39.2+/-71.8 0,34,2169 62 47 52 1257,1257 -9.4 0.1 19 dbSNP_98 52 3,8597 3.0+/-9.4 0,3,4297 no coding-synonymous,coding-synonymous APLP1 NM_001024807.1,NM_005166.3 , 0,37,6466 TT,TG,GG 0.0349,0.7717,0.2845 , 419/652,419/651 36365684 37,12969 2203 4300 6503 SO:0001819 synonymous_variant U48437 CCDS32997.1 19q 2008-07-15 333 597 protein-coding gene gene with protein product amyloid-like protein 1, amyloid precursor-like protein 1 104775 NA 8432545 Standard NM_001024807 NM_001024807 NA Approved APLP uc002ocf.3 P51693 ENST00000221891.4:c.1257G>T chr19.hg19:g.36365684G>T NA O00113|Q96A92 hg19 CCDS32997.1 0.02 4.166503 TGCxGAG COVERED NOVEL APLP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452564.1 1 7.824047 KEEP 0 0 0 26 858 GG 0.999957 0.999957 0 + 5 60 184 0 0 11.456992 133 60 4817 197 ENST00000221891.4 0.036232 1 APLP1 333 __UNKNOWN__ __UNKNOWN__ 19 36365786 36365786 __UNKNOWN__ Intron SNP C C T rs230264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36365786C>T ENST00000221891.4 + 10 1536 APLP1_ENST00000586861.1_Intron|APLP1_ENST00000589298.2_Intron|APLP1_ENST00000537454.2_Intron NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 NA NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417) basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914) breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCACATCCTTCCAGCTCCCAA 0.602 NA C||| 578 0.115415 0.3011 0.0403 5008 , , NA 18340 0.0823 NA 0.0249 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 C , 1206,3200 401.9+/-332.2 160,886,1157 48 46 47 , 2.5 0 19 dbSNP_79 47 304,8296 107.2+/-168.0 2,300,3998 no intron,intron APLP1 NM_001024807.1,NM_005166.3 , 162,1186,5155 TT,TC,CC 3.5349,27.3718,11.61 , , 36365786 1510,11496 2203 4300 6503 SO:0001627 intron_variant U48437 CCDS32997.1 19q 2008-07-15 333 597 protein-coding gene gene with protein product amyloid-like protein 1, amyloid precursor-like protein 1 104775 NA 8432545 Standard NM_001024807 NM_001024807 NA Approved APLP uc002ocf.3 P51693 ENST00000221891.4:c.1344+15C>T chr19.hg19:g.36365786C>T NA O00113|Q96A92 hg19 CCDS32997.1 0.02 -0.298283 CTTxCAG COVERED NOVEL APLP1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452564.1 0 3.310285 KEEP 0 0 0 11 381 CC 0.993072 0.775649 0 + 3 60 104 0 0 7.426127 31 60 1130 53 ENST00000221891.4 0.088235 0.78106 NFKBID 84807 __UNKNOWN__ __UNKNOWN__ 19 36387881 36387881 __UNKNOWN__ Missense_Mutation SNP A A G rs8113704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36387881A>G ENST00000396901.1 - 5 659 c.86T>C c.(85-87)gTg>gCg p.V29A NFKBID_ENST00000606253.1_Missense_Mutation_p.V29A|NFKBID_ENST00000352614.2_Missense_Mutation_p.V181A NM_139239.1 NP_640332.1 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta 29 NA V -> A (in dbSNP:rs8113704). inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245) nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 AGCTCGGGCCACCTCCAGCGA 0.617 NA G||| 988 0.197284 0.5333 0.0778 5008 , , NA 15936 0.1151 NA 0.0318 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 G ALA/VAL 1756,2146 402,952,597 47 52 50 86 4.7 0 19 dbSNP_116 50 387,7893 2,383,3755 yes missense NFKBID NM_139239.1 64 404,1335,4352 GG,GA,AA 4.6739,45.0026,17.5915 benign 29/314 36387881 2143,10039 1951 4140 6091 SO:0001583 missense AF385434 CCDS42552.1 19q13.12 2013-01-10 ENSG00000167604 84807 Ankyrin repeat domain containing 15671 protein-coding gene gene with protein product NA 12477932 Standard NM_032721 NM_139239 NA Approved TA-NFKBH, IkappaBNS uc002oci.1 Q8NI38 ENST00000396901.1:c.86T>C chr19.hg19:g.36387881A>G ENSP00000380109:p.Val29Ala NA Q8NI39|Q9BRG9 hg19 CCDS42552.1 0.02 17.602705 GCCxCCT COVERED 350 0.16025641025641027 216 0.43902439024390244 31 0.0856353591160221 78 0.13636363636363635 25 0.032981530343007916 G 0.008 -1.933930 0.00488 0.450026 0.046739 ENSG00000167604 ENST00000352614;ENST00000396901 T;T 0.54071 0.59;1.2 4.74 4.74 0.60224 . 1.395380 0.04214 N 0.332260 T 0.00012 0.0000 N 0.02539 -0.55 0.54753 P 2.0000000000020002E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.40213 -0.9575 9 0.07030 T 0.85 . 6.1006 0.20045 0.0951:0.0:0.7206:0.1843 rs8113704;rs58139929;rs8113704 181;29 Q8NI38-2;Q8NI38 .;IKBD_HUMAN A 181;29 ENSP00000252985:V181A;ENSP00000380109:V29A ENSP00000252985:V181A V - 2 0 NFKBID 41079721 0.500000 0.26091 0.038000 0.18304 0.149000 0.21700 2.646000 0.46630 1.245000 0.43885 -0.215000 0.12644 GTG NOVEL NFKBID-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000452927.3 1 27.678441 KEEP 0 0 0 92 2745 AA 1 1 0 - 13 60 457 0 0 27.170724 409 60 13924 650 ENST00000396901.1 0.030806 1 NFKBID 84807 __UNKNOWN__ __UNKNOWN__ 19 36393186 36393186 __UNKNOWN__ 5'UTR SNP T T C rs11878547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36393186T>C ENST00000606253.1 - 0 19 Q8NI38 IKBD_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta NA NA inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245) nucleus (GO:0005634) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 14 acacccacattcatttaatca 0.502 NA C||| 469 0.0936502 0.2186 0.0346 5008 , , NA 20801 0.1002 NA 0.0089 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF385434 CCDS42552.1 19q13.12 2013-01-10 ENSG00000167604 84807 Ankyrin repeat domain containing 15671 protein-coding gene gene with protein product NA 12477932 Standard NM_032721 NM_139239 NA Approved TA-NFKBH, IkappaBNS uc002oci.1 Q8NI38 ENST00000606253.1:c.-457A>G chr19.hg19:g.36393186T>C NA Q8NI39|Q9BRG9 hg19 CCDS42552.1 0.02 20.823132 CATxCAT COVERED NOVEL NFKBID-012 KNOWN alternative_5_UTR|upstream_ATG|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000471342.1 3 48.143317 KEEP 0 0 0 160 5023 TT 1 1 0 - 24 60 882 0 0 58.402232 451 60 16162 787 ENST00000606253.1 0.050526 1 TYROBP 7305 __UNKNOWN__ __UNKNOWN__ 19 36395446 36395446 __UNKNOWN__ 3'UTR SNP T T G rs1802029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36395446T>G ENST00000262629.4 - 0 433 TYROBP_ENST00000424586.3_3'UTR|TYROBP_ENST00000544690.2_3'UTR|TYROBP_ENST00000585901.2_3'UTR NM_003332.3|NM_198125.2 NP_003323.1|NP_937758.1 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein NA NA axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165) cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057) NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1) 8 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGTATCATGTTGCTGACT 0.537 NA G||| 468 0.0934505 0.2186 0.0331 5008 , , NA 16623 0.1002 NA 0.0089 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 G ,,, 882,3524 738.1+/-410.9 94,694,1415 154 134 141 ,,, -1.2 0 19 dbSNP_89 141 123,8477 811.2+/-407.1 1,121,4178 no utr-3,utr-3,utr-3,utr-3 TYROBP NM_001173514.1,NM_001173515.1,NM_003332.3,NM_198125.2 ,,, 95,815,5593 GG,GT,TT 1.4302,20.0182,7.7272 ,,, ,,, 36395446 1005,12001 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF019563 CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1 19q13.1 2014-09-17 ENSG00000011600 7305 12449 protein-coding gene gene with protein product killer activating receptor associated protein, DNAX-activation protein 12 604142 PLOSL NA 9490415, 10888890 Standard NM_003332 NA Approved DAP12, PLO-SL, KARAP uc002ocm.3 O43914 ENST00000262629.4:c.*25A>C chr19.hg19:g.36395446T>G NA A8K2X0|F5H389|Q6FGA5|Q9UMT3 hg19 CCDS12482.1 0.02 6.757621 TCAxGTT COVERED NOVEL TYROBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000457397.1 1 24.65308 KEEP 0 0 0 82 2537 TT 1 1 0 - 9 60 333 0 0 22.015571 174 60 6420 341 ENST00000262629.4 0.04918 1 LRFN3 79414 __UNKNOWN__ __UNKNOWN__ 19 36430465 36430465 __UNKNOWN__ Silent SNP A A C rs2242590 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36430465A>C ENST00000588831.1 + 3 1192 c.138A>C c.(136-138)ccA>ccC p.P46P LRFN3_ENST00000246529.3_Silent_p.P46P Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 46 LRRNT. NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGCTGTGCCCAGGGGCAGGCC 0.721 NA A||| 793 0.158347 0.382 0.1009 5008 , , NA 14139 0.126 NA 0.0268 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 A 1285,3057 187,911,1073 14 17 16 138 -9.2 0.7 19 dbSNP_98 16 287,8231 2,283,3974 no coding-synonymous LRFN3 NM_024509.1 189,1194,5047 CC,CA,AA 3.3693,29.5947,12.224 46/629 36430465 1572,11288 2171 4259 6430 SO:0001819 synonymous_variant BC003578 CCDS12483.1 19q13.13 2013-02-11 ENSG00000126243 79414 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 28370 protein-coding gene gene with protein product fibronectin type III, immunoglobulin and leucine rich repeat domains 1 612809 NA 12975309, 16495444, 16828986 Standard NM_024509 NM_024509 NA Approved MGC2656, SALM4, FIGLER1 uc002oco.3 Q9BTN0 ENST00000588831.1:c.138A>C chr19.hg19:g.36430465A>C NA Q6UY10 hg19 CCDS12483.1 0.02 5.892118 CCCxGGG COVERED NOVEL LRFN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457403.2 1 23.469209 KEEP 0 0 0 78 2421 AA 1 1 0 + 6 60 210 0 0 12.645529 161 60 5795 306 ENST00000588831.1 0.035928 1 LRFN3 79414 __UNKNOWN__ __UNKNOWN__ 19 36430798 36430798 __UNKNOWN__ Silent SNP A A G rs1057265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36430798A>G ENST00000588831.1 + 3 1525 c.471A>G c.(469-471)acA>acG p.T157T LRFN3_ENST00000246529.3_Silent_p.T157T Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 157 NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTGCCGAGACACTGGAGGACC 0.667 NA G||| 800 0.159744 0.3865 0.1009 5008 , , NA 14187 0.127 NA 0.0268 False NA ,,, NA NA NA 2504 0.0654 NA NA NA NA 0 G 1420,2986 224,972,1007 48 45 46 471 -8.7 0.5 19 dbSNP_86 46 306,8288 2,302,3993 no coding-synonymous LRFN3 NM_024509.1 226,1274,5000 GG,GA,AA 3.5606,32.2288,13.2769 157/629 36430798 1726,11274 2203 4297 6500 SO:0001819 synonymous_variant BC003578 CCDS12483.1 19q13.13 2013-02-11 ENSG00000126243 79414 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 28370 protein-coding gene gene with protein product fibronectin type III, immunoglobulin and leucine rich repeat domains 1 612809 NA 12975309, 16495444, 16828986 Standard NM_024509 NM_024509 NA Approved MGC2656, SALM4, FIGLER1 uc002oco.3 Q9BTN0 ENST00000588831.1:c.471A>G chr19.hg19:g.36430798A>G NA Q6UY10 hg19 CCDS12483.1 0.02 27.416476 GACxCTG COVERED NOVEL LRFN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457403.2 0 42.420272 KEEP 0 0 0 141 4240 AA 1 1 0 + 20 60 678 0 0 38.447005 679 60 23929 1026 ENST00000588831.1 0.028612 1 LRFN3 79414 __UNKNOWN__ __UNKNOWN__ 19 36435564 36435564 __UNKNOWN__ Silent SNP G G A rs2293756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36435564G>A ENST00000588831.1 + 4 2584 c.1530G>A c.(1528-1530)acG>acA p.T510T LRFN3_ENST00000246529.3_Silent_p.T510T Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 510 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCACGGCCACGCGGCCTGTGG 0.711 NA A||| 421 0.0840655 0.1808 0.0749 5008 , , NA 12088 0.1151 NA 0.002 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 A 600,3792 36,528,1632 12 13 13 1530 -10.1 0.1 19 dbSNP_100 13 40,8522 1,38,4242 no coding-synonymous LRFN3 NM_024509.1 37,566,5874 AA,AG,GG 0.4672,13.6612,4.9406 510/629 36435564 640,12314 2196 4281 6477 SO:0001819 synonymous_variant BC003578 CCDS12483.1 19q13.13 2013-02-11 ENSG00000126243 79414 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 28370 protein-coding gene gene with protein product fibronectin type III, immunoglobulin and leucine rich repeat domains 1 612809 NA 12975309, 16495444, 16828986 Standard NM_024509 NM_024509 NA Approved MGC2656, SALM4, FIGLER1 uc002oco.3 Q9BTN0 ENST00000588831.1:c.1530G>A chr19.hg19:g.36435564G>A NA Q6UY10 hg19 CCDS12483.1 0.02 15.644932 CACxCGG COVERED NOVEL LRFN3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457403.2 0 33.379571 KEEP 0 1 31 122 4189 GG 1 1 0 + 20 60 714 0 0 47.127199 352 60 12173 650 ENST00000588831.1 0.053763 1 SYNE4 163183 __UNKNOWN__ __UNKNOWN__ 19 36496167 36496167 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36496167A>T ENST00000324444.3 - 6 1084 SYNE4_ENST00000340477.5_Intron NM_001039876.1 NP_001034965.1 Q8N205 SYNE4_HUMAN spectrin repeat containing, nuclear envelope family member 4 NA NA establishment of epithelial cell apical/basal polarity (GO:0045198) integral component of nuclear outer membrane (GO:0031309) NA gtgccttttgatttcttgggt 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC038360 CCDS42553.1 19q13.12 2014-01-28 2012-05-31 2012-05-31 ENSG00000181392 ENSG00000181392 163183 26703 protein-coding gene gene with protein product 615535 chromosome 19 open reading frame 46, deafness, autosomal recessive 76 C19orf46, DFNB76 NA 23348741 Standard NM_001039876 XM_005258597 NA Approved FLJ36445, Nesprin-4, Nesp4 uc002ocq.1 Q8N205 OTTHUMG00000048135 ENST00000324444.3:c.972+67T>A chr19.hg19:g.36496167A>T NA A8MRS0|A8MYE3|Q7Z7L3 hg19 CCDS42553.1 0.02 3.09383 TTGxTTT COVERED NOVEL SYNE4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109525.3 3 7.01791 KEEP 0 3 72 49 1482 AA 1 1 0 - 9 60 206 0 0 9.754196 163 60 5085 299 ENST00000324444.3 0.052326 1 ALKBH6 84964 __UNKNOWN__ __UNKNOWN__ 19 36504175 36504175 __UNKNOWN__ Intron SNP G G A rs2073895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36504175G>A ENST00000252984.7 - 3 207 ALKBH6_ENST00000485128.1_Intron|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Intron|ALKBH6_ENST00000486389.1_Intron|ALKBH6_ENST00000495116.2_Intron Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 (E. coli) NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706) endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 9 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGGTGGAAGGGGGCAGTCCCA 0.547 NA G||| 353 0.0704872 0.0348 0.0144 5008 , , NA 19455 0.1706 NA 0.0 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BM713594 CCDS12485.2, CCDS74342.1 19q13.12 2008-02-05 ENSG00000239382 ENSG00000239382 84964 Alkylation repair homologs 28243 protein-coding gene gene with protein product 613304 NA 8889548 Standard NM_032878 NM_032878 NA Approved MGC15677 uc002ocv.1 Q3KRA9 OTTHUMG00000048137 ENST00000252984.7:c.54+70C>T chr19.hg19:g.36504175G>A NA A5LGM8|A6NLP1|A8MU96 hg19 0.02 9.250418 AGGxGGC COVERED NOVEL ALKBH6-004 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000109531.4 2 17.155781 KEEP 0 0 0 57 1997 GG 1 1 0 - 17 60 597 0 0 41.630487 211 60 7558 312 ENST00000252984.7 0.074561 1 THAP8 199745 __UNKNOWN__ __UNKNOWN__ 19 36530343 36530343 __UNKNOWN__ Missense_Mutation SNP C C T rs10421966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36530343C>T ENST00000292894.1 - 3 1098 c.554G>A c.(553-555)cGg>cAg p.R185Q THAP8_ENST00000538849.1_Missense_Mutation_p.R40Q|AC002116.7_ENST00000586962.1_RNA NM_152658.2 NP_689871.1 Q8NA92 THAP8_HUMAN THAP domain containing 8 185 NA R -> Q (in dbSNP:rs10421966). {ECO:0000269|PubMed:14702039}. DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGCAGCCTCCGCACCCGGCG 0.711 NA c||| 1294 0.258387 0.2239 0.2233 5008 , , NA 15755 0.3274 NA 0.33 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 C GLN/ARG 927,3425 105,717,1354 8 7 7 554 -5.1 0 19 dbSNP_119 7 2538,5980 398,1742,2119 no missense THAP8 NM_152658.2 43 503,2459,3473 TT,TC,CC 29.7957,21.3006,26.9231 benign 185/275 36530343 3465,9405 2176 4259 6435 SO:0001583 missense AK057453 CCDS33000.1 19q13.13 2013-01-25 ENSG00000161277 ENSG00000161277 199745 THAP (C2CH-type zinc finger) domain containing 23191 protein-coding gene gene with protein product 612536 NA 12575992 Standard NM_152658 NM_152658 NA Approved FLJ32891 uc002oda.1 Q8NA92 OTTHUMG00000048138 ENST00000292894.1:c.554G>A chr19.hg19:g.36530343C>T ENSP00000292894:p.Arg185Gln NA Q0P5Z7|Q96M21 hg19 CCDS33000.1 0.02 8.193018 CTCxGCA COVERED 666 0.30494505494505497 125 0.2540650406504065 90 0.24861878453038674 196 0.34265734265734266 255 0.33641160949868076 c 10.87 1.471684 0.26423 0.213006 0.297957 ENSG00000161277 ENST00000292894;ENST00000392182;ENST00000538849 D;T 0.88354 -2.37;1.87 4.54 -5.09 0.02920 . 0.939552 0.08854 N 0.883987 T 0.00012 0.0000 N 0.12182 0.205 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.02464 -1.1155 9 0.17832 T 0.49 -19.0278 12.6285 0.56644 0.0:0.4052:0.0:0.5948 rs10421966;rs10421966 185 Q8NA92 THAP8_HUMAN Q 185;185;40 ENSP00000292894:R185Q;ENSP00000445493:R40Q ENSP00000292894:R185Q R - 2 0 THAP8 41222183 0.492000 0.26027 0.006000 0.13384 0.039000 0.13416 -0.273000 0.08548 -1.335000 0.02241 -1.316000 0.01300 CGG NOVEL THAP8-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000379036.1 0 25.580075 KEEP 0 0 0 85 2907 CC 1 1 0 - 7 60 254 0 0 15.389154 205 60 7214 368 ENST00000292894.1 0.033019 1 WDR62 284403 __UNKNOWN__ __UNKNOWN__ 19 36572610 36572610 __UNKNOWN__ Intron SNP C C T rs116976346 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36572610C>T ENST00000401500.2 + 10 1406 WDR62_ENST00000270301.7_Intron|WDR62_ENST00000388999.3_Intron NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 NA NA cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CAAGGCAGGTCCCTCTCTGCA 0.542 NA C||| 288 0.057508 0.003 0.0504 5008 , , NA 20979 0.1111 NA 0.0 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647726 CCDS33001.1, CCDS46059.1 19q13.12 2013-01-09 2005-05-09 2005-05-09 ENSG00000075702 ENSG00000075702 284403 WD repeat domain containing 24502 protein-coding gene gene with protein product 613583 chromosome 19 open reading frame 14, microcephaly, primary autosomal recessive 2 C19orf14, MCPH2 NA 19910486, 20729831, 20890278, 21496009 Standard NM_015671 NM_001083961 NA Approved DKFZP434J046, FLJ33298 uc002odd.2 O43379 OTTHUMG00000048139 ENST00000401500.2:c.1371+138C>T chr19.hg19:g.36572610C>T NA Q63HP9|Q659D7|Q8NBF7|Q96AD9 hg19 CCDS46059.1 0.02 10.542056 GGTxCCT COVERED NOVEL WDR62-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109534.3 1 10.231698 KEEP 0 0 0 34 1152 CC 0.999998 0.999998 0 + 9 60 327 0 0 19.985904 253 60 9264 345 ENST00000401500.2 0.034351 1 WDR62 284403 __UNKNOWN__ __UNKNOWN__ 19 36572850 36572850 __UNKNOWN__ Intron SNP G G A rs78718133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36572850G>A ENST00000401500.2 + 10 1406 WDR62_ENST00000270301.7_Intron NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 NA NA cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAGGCCTCACGGGGGTATGGG 0.547 NA G||| 18 0.00359425 0.0 0.0 5008 , , NA 20593 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BX647726 CCDS33001.1, CCDS46059.1 19q13.12 2013-01-09 2005-05-09 2005-05-09 ENSG00000075702 ENSG00000075702 284403 WD repeat domain containing 24502 protein-coding gene gene with protein product 613583 chromosome 19 open reading frame 14, microcephaly, primary autosomal recessive 2 C19orf14, MCPH2 NA 19910486, 20729831, 20890278, 21496009 Standard NM_015671 NM_001083961 NA Approved DKFZP434J046, FLJ33298 uc002odd.2 O43379 OTTHUMG00000048139 ENST00000401500.2:c.1371+378G>A chr19.hg19:g.36572850G>A NA Q63HP9|Q659D7|Q8NBF7|Q96AD9 hg19 CCDS46059.1 0.02 2.071573 CACxGGG COVERED NOVEL WDR62-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109534.3 1 2.708587 KEEP 0 0 0 9 301 GG 0.99254 0.992435 0 + 7 60 262 0 0 18.755648 86 60 3095 104 ENST00000401500.2 0.075269 0.999895 WDR62 284403 __UNKNOWN__ __UNKNOWN__ 19 36577742 36577742 __UNKNOWN__ Intron SNP G G A rs77938609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36577742G>A ENST00000401500.2 + 13 1803 WDR62_ENST00000270301.7_Intron NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 NA NA cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CGCTCCCTGCGCCTTGCTAGC 0.473 NA G||| 568 0.113419 0.0189 0.0865 5008 , , NA 20336 0.2173 NA 0.0358 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 G , 126,4280 92.0+/-130.7 0,126,2077 66 37 47 , -4.8 0 19 dbSNP_131 47 345,8255 112.9+/-173.0 3,339,3958 no intron,intron WDR62 NM_001083961.1,NM_173636.4 , 3,465,6035 AA,AG,GG 4.0116,2.8597,3.6214 , , 36577742 471,12535 2203 4300 6503 SO:0001627 intron_variant BX647726 CCDS33001.1, CCDS46059.1 19q13.12 2013-01-09 2005-05-09 2005-05-09 ENSG00000075702 ENSG00000075702 284403 WD repeat domain containing 24502 protein-coding gene gene with protein product 613583 chromosome 19 open reading frame 14, microcephaly, primary autosomal recessive 2 C19orf14, MCPH2 NA 19910486, 20729831, 20890278, 21496009 Standard NM_015671 NM_001083961 NA Approved DKFZP434J046, FLJ33298 uc002odd.2 O43379 OTTHUMG00000048139 ENST00000401500.2:c.1768+28G>A chr19.hg19:g.36577742G>A NA Q63HP9|Q659D7|Q8NBF7|Q96AD9 hg19 CCDS46059.1 0.02 3.690214 TGCxCCT COVERED NOVEL WDR62-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109534.3 1 9.329717 KEEP 0 0 0 31 1073 GG 0.999997 0.999997 0 + 6 60 205 0 0 12.492045 141 60 4966 204 ENST00000401500.2 0.040816 1 WDR62 284403 __UNKNOWN__ __UNKNOWN__ 19 36587871 36587871 __UNKNOWN__ Intron SNP T T C rs75663840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36587871T>C ENST00000401500.2 + 21 2502 WDR62_ENST00000270301.7_Intron NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 NA NA cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008) cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922) cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) cccggttatgtatgtggcctg 0.522 NA T||| 290 0.0579073 0.003 0.049 5008 , , NA 19663 0.1111 NA 0.0 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 T , 4,1380 0,4,688 173 138 149 , -2.5 0 19 dbSNP_132 149 1,3181 0,1,1590 no intron,intron WDR62 NM_001083961.1,NM_173636.4 , 0,5,2278 CC,CT,TT 0.0314,0.289,0.1095 , , 36587871 5,4561 692 1591 2283 SO:0001627 intron_variant BX647726 CCDS33001.1, CCDS46059.1 19q13.12 2013-01-09 2005-05-09 2005-05-09 ENSG00000075702 ENSG00000075702 284403 WD repeat domain containing 24502 protein-coding gene gene with protein product 613583 chromosome 19 open reading frame 14, microcephaly, primary autosomal recessive 2 C19orf14, MCPH2 NA 19910486, 20729831, 20890278, 21496009 Standard NM_015671 NM_001083961 NA Approved DKFZP434J046, FLJ33298 uc002odd.2 O43379 OTTHUMG00000048139 ENST00000401500.2:c.2468-58T>C chr19.hg19:g.36587871T>C NA Q63HP9|Q659D7|Q8NBF7|Q96AD9 hg19 CCDS46059.1 0.02 9.942475 ATGxATG COVERED NOVEL WDR62-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000109534.3 1 13.832948 KEEP 0 0 0 46 1358 TT 1 1 0 + 9 60 354 0 0 23.639343 197 60 6976 318 ENST00000401500.2 0.043689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 36800360 36800360 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36800360C>G NA NA ZNF565 (63201 upstream) : CTD-3162L10.1 (899 downstream) NA NA NA ccgccgcaacctccagcaccg 0.741 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.36800360C>G NA hg19 0.02 -0.342057 AACxTCC COVERED NOVEL 0 1 10.534201 KEEP 26 0 0 35 1245 CC 0.999957 0.865708 0 3 42 96 1 0 6.476838 35 60 1247 153 0.078947 0.865745 ZNF566 84924 __UNKNOWN__ __UNKNOWN__ 19 36939572 36939572 __UNKNOWN__ 3'UTR SNP C C T rs2385797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36939572C>T ENST00000493391.1 - 0 1775 ZNF566_ENST00000434377.2_3'UTR|ZNF566_ENST00000424129.2_3'UTR|ZNF566_ENST00000392170.2_3'UTR|ZNF566_ENST00000454319.1_3'UTR Q969W8 ZN566_HUMAN zinc finger protein 566 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) CAAAAATTCTCTGACGTTAAG 0.294 NA C||| 1313 0.262181 0.289 0.183 5008 , , NA 15975 0.1438 NA 0.2724 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074497 CCDS12494.1, CCDS46061.1, CCDS74346.1 19q13.12 2013-01-08 84924 Zinc fingers, C2H2-type, - 25919 protein-coding gene gene with protein product NA 12477932 Standard NM_032838 NM_001145343 NA Approved FLJ14779, MGC12515 uc010xtf.2 Q969W8 ENST00000493391.1:c.*307G>A chr19.hg19:g.36939572C>T NA B7ZL95|Q2M3J1 hg19 0.02 10.043503 TCTxTGA COVERED NOVEL ZNF566-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000341055.2 2 13.543974 KEEP 0 0 0 45 1617 CC 1 1 0 - 9 60 319 0 0 19.187546 253 60 9820 391 ENST00000493391.1 0.034351 1 ZNF566 84924 __UNKNOWN__ __UNKNOWN__ 19 36964376 36964376 __UNKNOWN__ Intron SNP C C T rs2967540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:36964376C>T ENST00000493391.1 - 2 444 ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000434377.2_Intron|ZNF566_ENST00000424129.2_Intron|ZNF566_ENST00000392170.2_Intron|ZNF566_ENST00000454319.1_Intron Q969W8 ZN566_HUMAN zinc finger protein 566 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) ACAATAACCACGTATATGACT 0.358 NA C||| 1263 0.252196 0.2481 0.183 5008 , , NA 21162 0.1627 NA 0.2714 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 C ,,, 1204,3202 417.8+/-338.1 154,896,1153 105 99 101 ,,, -4.5 0.1 19 dbSNP_101 101 2110,6490 363.9+/-333.3 290,1530,2480 no intron,intron,intron,intron ZNF566 NM_001145343.1,NM_001145344.1,NM_001145345.1,NM_032838.4 ,,, 444,2426,3633 TT,TC,CC 24.5349,27.3264,25.4805 ,,, ,,, 36964376 3314,9692 2203 4300 6503 SO:0001627 intron_variant AK074497 CCDS12494.1, CCDS46061.1, CCDS74346.1 19q13.12 2013-01-08 84924 Zinc fingers, C2H2-type, - 25919 protein-coding gene gene with protein product NA 12477932 Standard NM_032838 NM_001145343 NA Approved FLJ14779, MGC12515 uc010xtf.2 Q969W8 ENST00000493391.1:c.79+3074G>A chr19.hg19:g.36964376C>T NA B7ZL95|Q2M3J1 hg19 0.02 12.544449 CCAxGTA COVERED NOVEL ZNF566-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000341055.2 1 17.75529 KEEP 0 0 0 59 1968 CC 1 1 0 - 12 60 436 0 0 27.352893 294 60 9969 426 ENST00000493391.1 0.039216 1 ZNF260 339324 __UNKNOWN__ __UNKNOWN__ 19 37005998 37005998 __UNKNOWN__ Missense_Mutation SNP A A G rs61743049 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37005998A>G ENST00000523638.1 - 3 1264 c.143T>C c.(142-144)aTg>aCg p.M48T ZNF260_ENST00000593142.1_Missense_Mutation_p.M48T|ZNF260_ENST00000592282.1_Missense_Mutation_p.M48T|ZNF260_ENST00000588993.1_Missense_Mutation_p.M48T NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 48 NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TCCAGTATGCATTTTCTTATG 0.378 NA A||| 141 0.028155 0.0 0.0259 5008 , , NA 20924 0.0595 NA 0.0258 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 A THR/MET,THR/MET,THR/MET,THR/MET 17,4389 24.3+/-50.5 0,17,2186 134 129 131 143,143,143,143 2.2 0.2 19 dbSNP_129 131 157,8443 75.4+/-138.0 2,153,4145 yes missense,missense,missense,missense ZNF260 NM_001012756.2,NM_001166036.1,NM_001166037.1,NM_001166038.1 81,81,81,81 2,170,6331 GG,GA,AA 1.8256,0.3858,1.3378 benign,benign,benign,benign 48/413,48/413,48/413,48/413 37005998 174,12832 2203 4300 6503 SO:0001583 missense AK122854 CCDS33003.1 19q13.12 2013-01-08 ENSG00000254004 339324 Zinc fingers, C2H2-type 13499 protein-coding gene gene with protein product 613749 NA Standard NM_001012756 NM_001166036 NA Approved ozrf1, Zfp260 uc002oed.2 Q3ZCT1 ENST00000523638.1:c.143T>C chr19.hg19:g.37005998A>G ENSP00000429803:p.Met48Thr NA Q0VF43 hg19 CCDS33003.1 0.02 12.70125 TGCxTTT COVERED 55 0.025183150183150184 0 0.0 5 0.013812154696132596 30 0.05244755244755245 20 0.026385224274406333 A 0.490 -0.875594 0.02550 0.003858 0.018256 ENSG00000254004 ENST00000523638 T 0.15256 2.44 4.32 2.22 0.28083 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00695 0.0023 N 0.00424 -1.51 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.34650 -0.9820 9 0.42905 T 0.14 . 7.7327 0.28796 0.8008:0.0:0.1992:0.0 . 48 Q3ZCT1 ZN260_HUMAN T 48 ENSP00000429803:M48T ENSP00000429803:M48T M - 2 0 ZNF260 41697838 0.004000 0.15560 0.168000 0.22838 0.034000 0.12701 2.168000 0.42424 0.813000 0.34350 0.454000 0.30748 ATG NOVEL ZNF260-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109564.2 2 11.733946 KEEP 0 0 0 39 1228 AA 1 1 0 - 12 60 428 0 0 25.922188 333 60 12260 455 ENST00000523638.1 0.034783 1 ZNF529 57711 __UNKNOWN__ __UNKNOWN__ 19 37039069 37039069 __UNKNOWN__ Missense_Mutation SNP A A C rs2912444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37039069A>C ENST00000591340.1 - 5 549 c.391T>G c.(391-393)Tta>Gta p.L131V ZNF529_ENST00000334116.7_Missense_Mutation_p.L26V NM_020951.4 NP_066002.3 Q6P280 ZN529_HUMAN zinc finger protein 529 131 NA L -> V (in dbSNP:rs2912444). {ECO:0000269|PubMed:10997877, ECO:0000269|PubMed:15489334}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1) 1 Esophageal squamous(110;0.198) GGTCCTTGTAAGTCAATCTTG 0.398 NA C||| 3263 0.651558 0.8185 0.5735 5008 , , NA 18259 0.4226 NA 0.6948 False NA ,,, NA NA NA 2504 0.6728 NA NA NA NA 0 C VAL/LEU,VAL/LEU,VAL/LEU 3020,714 1214,592,61 101 87 91 391,337,391 -7.7 0 19 dbSNP_101 91 5588,2600 1946,1696,452 yes missense,missense,missense ZNF529 NM_020951.4,NM_001145650.1,NM_001145649.1 32,32,32 3160,2288,513 CC,CA,AA 31.7538,19.1216,27.7973 benign,benign,benign 131/564,113/546,131/564 37039069 8608,3314 1867 4094 5961 SO:0001583 missense AK025110 CCDS54256.1 19q13.13 2014-08-22 ENSG00000186020 ENSG00000186020 57711 Zinc fingers, C2H2-type, - 29328 protein-coding gene gene with protein product NA 10997877 Standard NM_020951 NM_020951 NA Approved KIAA1615 uc002oeh.4 Q6P280 OTTHUMG00000180714 ENST00000591340.1:c.391T>G chr19.hg19:g.37039069A>C ENSP00000465578:p.Leu131Val NA K7EKE1|Q9H731|Q9HCF7 hg19 CCDS54256.1 0.02 15.467104 GTAxGTC COVERED 1401 0.6414835164835165 419 0.8516260162601627 219 0.6049723756906077 238 0.4160839160839161 525 0.6926121372031663 C 2.411 -0.335375 0.05278 0.808784 0.682462 ENSG00000186020 ENST00000334116 . . . 3.83 -7.66 0.01277 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.25676 -1.0125 4 0.22706 T 0.39 . 2.0601 0.03590 0.3039:0.1235:0.1005:0.472 rs2912444;rs3760827;rs17846672;rs17859771;rs52829338;rs60460845;rs2912444 . . . V 131 . ENSP00000334695:L131V L - 1 2 ZNF529 41730909 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.182000 0.03082 -1.556000 0.01695 -1.296000 0.01341 TTA NOVEL ZNF529-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000452730.1 6 12.444418 KEEP 0 3 108 79 2546 AA 1 1 0 - 15 60 521 0 0 31.625585 378 60 13919 589 ENST00000591340.1 0.038168 1 ZNF829 374899 __UNKNOWN__ __UNKNOWN__ 19 37399412 37399412 __UNKNOWN__ Intron SNP C C T rs10418144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37399412C>T ENST00000391711.3 - 4 461 ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Intron NM_001037232.3 NP_001032309.2 Q3KNS6 ZN829_HUMAN zinc finger protein 829 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAAAGATGGCGGTAGAGGTG 0.408 NA T||| 996 0.198882 0.3374 0.134 5008 , , NA 17702 0.1528 NA 0.1143 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 T , 1086,2912 134,818,1047 35 35 35 , 2.2 0 19 dbSNP_119 35 827,7553 46,735,3409 no intron,intron ZNF829 NM_001037232.3,NM_001171979.1 , 180,1553,4456 TT,TC,CC 9.8687,27.1636,15.4548 , , 37399412 1913,10465 1999 4190 6189 SO:0001627 intron_variant BC107131 CCDS42557.1, CCDS59380.1 19q13.12 2013-01-08 ENSG00000185869 ENSG00000185869 374899 Zinc fingers, C2H2-type, - 34032 protein-coding gene gene with protein product NA Standard NM_001037232 NM_001037232 NA Approved DKFZp779O175 uc021utr.1 Q3KNS6 OTTHUMG00000048161 ENST00000391711.3:c.97-51G>A chr19.hg19:g.37399412C>T NA Q3KNS7|Q6ZNN0|Q7Z657 hg19 CCDS42557.1 0.02 8.170666 TGGxGGT COVERED NOVEL ZNF829-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109575.3 2 22.268652 KEEP 0 0 0 74 2522 CC 1 1 0 - 7 60 255 0 0 15.293109 219 60 7724 398 ENST00000391711.3 0.030973 1 ZNF829 374899 __UNKNOWN__ __UNKNOWN__ 19 37406662 37406662 __UNKNOWN__ Intron SNP C C T rs8101922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37406662C>T ENST00000391711.3 - 1 281 ZNF829_ENST00000520965.1_Intron NM_001037232.3 NP_001032309.2 Q3KNS6 ZN829_HUMAN zinc finger protein 829 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ccatgcctagctaatttttgt 0.557 NA C||| 994 0.198482 0.3359 0.134 5008 , , NA 14767 0.1528 NA 0.1143 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC107131 CCDS42557.1, CCDS59380.1 19q13.12 2013-01-08 ENSG00000185869 ENSG00000185869 374899 Zinc fingers, C2H2-type, - 34032 protein-coding gene gene with protein product NA Standard NM_001037232 NM_001037232 NA Approved DKFZp779O175 uc021utr.1 Q3KNS6 OTTHUMG00000048161 ENST00000391711.3:c.83+250G>A chr19.hg19:g.37406662C>T NA Q3KNS7|Q6ZNN0|Q7Z657 hg19 CCDS42557.1 0.02 3.554919 TAGxTAA COVERED NOVEL ZNF829-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109575.3 2 8.1261 KEEP 0 0 0 27 927 CC 0.999988 0.999987 0 - 6 60 196 0 0 11.956144 122 60 4416 157 ENST00000391711.3 0.046875 1 ZNF829 374899 __UNKNOWN__ __UNKNOWN__ 19 37406671 37406671 __UNKNOWN__ Intron SNP G G C rs2010342 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37406671G>C ENST00000391711.3 - 1 281 ZNF829_ENST00000520965.1_Intron NM_001037232.3 NP_001032309.2 Q3KNS6 ZN829_HUMAN zinc finger protein 829 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) gctaatttttgtatttttagt 0.552 NA G||| 838 0.167332 0.236 0.1182 5008 , , NA 14699 0.1528 NA 0.1024 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC107131 CCDS42557.1, CCDS59380.1 19q13.12 2013-01-08 ENSG00000185869 ENSG00000185869 374899 Zinc fingers, C2H2-type, - 34032 protein-coding gene gene with protein product NA Standard NM_001037232 NM_001037232 NA Approved DKFZp779O175 uc021utr.1 Q3KNS6 OTTHUMG00000048161 ENST00000391711.3:c.83+241C>G chr19.hg19:g.37406671G>C NA Q3KNS7|Q6ZNN0|Q7Z657 hg19 CCDS42557.1 0.02 3.860052 TTTxTAT COVERED NOVEL ZNF829-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109575.3 2 10.232463 KEEP 0 0 0 34 1165 GG 0.999999 0.999999 0 - 7 60 248 0 0 15.863444 143 60 5342 188 ENST00000391711.3 0.046667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 37784599 37784599 __UNKNOWN__ IGR SNP A A C rs4806420 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37784599A>C NA NA CTD-3220F14.1 (22179 upstream) : HKR1 (19139 downstream) NA NA NA Cagagacagaaagagagggcg 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.37784599A>C NA hg19 0.02 2.479912 AGAxAGA UNCOVERED NOVEL 0 2 2.708371 KEEP 10 0 0 9 289 AA 0 0 0 5 42 183 0 0 13.338458 52 60 1718 91 0.087719 0.984161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 37785273 37785273 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37785273C>T NA NA CTD-3220F14.1 (22853 upstream) : HKR1 (18465 downstream) NA NA NA ggctgcggaccctttaaaaaa 0.746 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.37785273C>T NA hg19 0.02 -0.383671 GACxCTT COVERED NOVEL 0 0 6.319702 KEEP 25 0 0 21 725 CC 0.99986 0.918042 0 3 21 101 1 0 6.81682 40 43 1458 115 0.069767 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 37785490 37785490 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37785490G>A NA NA CTD-3220F14.1 (23070 upstream) : HKR1 (18248 downstream) NA NA NA aggagcttcgggatgccggct 0.637 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.37785490G>A NA hg19 0.02 2.305071 TCGxGAT UNCOVERED NOVEL 0 0 3.595609 KEEP 16 0 0 12 383 GG 0 0 0 8 34 300 0 0 23.980238 46 45 1716 96 0.148148 0.976865 HKR1 284459 __UNKNOWN__ __UNKNOWN__ 19 37838721 37838721 __UNKNOWN__ Missense_Mutation SNP G G A rs201744812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:37838721G>A ENST00000591134.1 + 3 307 c.77G>A c.(76-78)cGa>cAa p.R26Q HKR1_ENST00000586897.1_Missense_Mutation_p.R26Q|HKR1_ENST00000591259.1_Missense_Mutation_p.R68Q|HKR1_ENST00000592168.1_Missense_Mutation_p.R26Q|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.R26Q|HKR1_ENST00000591417.1_Missense_Mutation_p.R26Q|HKR1_ENST00000324411.4_Missense_Mutation_p.R87Q|HKR1_ENST00000392153.3_Missense_Mutation_p.R68Q|HKR1_ENST00000589392.1_Missense_Mutation_p.R68Q P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 87 NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGCTGGAGCGAGGGGAAGCG 0.493 NA g||| 2 0.000399361 0.0 0.0 5008 , , NA 20965 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 96 77 84 NA NA 19 NA 37838721 2203 4300 6503 SO:0001583 missense M20675 CCDS12502.1 19q13.13 2013-01-08 2010-05-04 ENSG00000181666 284459 Zinc fingers, C2H2-type, - 4928 protein-coding gene gene with protein product oncogene HKR1 165250 GLI-Kruppel family member HKR1 NA 2850480, 9813242 Standard NM_181786 NM_181786 NA Approved ZNF875 uc002ogb.3 P10072 ENST00000591134.1:c.77G>A chr19.hg19:g.37838721G>A ENSP00000466856:p.Arg26Gln NA A8MRS7|Q6PJD0|Q9BSW9|Q9UM09 hg19 0.02 8.557842 AGCxAGG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 g 0.011 -1.721768 0.00700 . . ENSG00000181666 ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583 T;T;T 0.00672 5.89;5.89;5.89 3.75 -6.44 0.01920 Krueppel-associated box (3); . . . . T 0.00271 0.0008 N 0.01771 -0.73 0.09310 N 1 B;B;B;B;B 0.33612 0.0;0.006;0.001;0.0;0.419 B;B;B;B;B 0.17979 0.0;0.001;0.0;0.0;0.02 T 0.47749 -0.9093 9 0.02654 T 1 . 6.5254 0.22299 0.4056:0.0:0.4644:0.13 . 26;68;87;68;122 Q7Z6E1;P10072-2;P10072;B4DSY3;Q53EM3 .;.;HKR1_HUMAN;.;. Q 26;68;122;87;26 ENSP00000375994:R68Q;ENSP00000315505:R87Q;ENSP00000438261:R26Q ENSP00000315505:R87Q R + 2 0 HKR1 42530561 0.024000 0.19004 0.382000 0.26119 0.252000 0.25951 -1.389000 0.02530 -1.095000 0.03050 -1.106000 0.02097 CGA NOVEL HKR1-026 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458381.2 1 13.544027 KEEP 0 0 0 45 1583 GG 1 1 0 + 9 60 335 0 0 20.970132 241 60 8934 354 ENST00000591134.1 0.036 1 SIPA1L3 23094 __UNKNOWN__ __UNKNOWN__ 19 38697054 38697054 __UNKNOWN__ 3'UTR SNP G G A rs3745946 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:38697054G>A ENST00000222345.6 + 0 6029 NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 NA NA hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056) extracellular space (GO:0005615) GTPase activator activity (GO:0005096) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGGTCAGCGCGCACAGCCCTC 0.662 NA G||| 2584 0.515974 0.2179 0.6527 5008 , , NA 18358 0.7123 NA 0.5895 False NA ,,, NA NA NA 2504 0.544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB011117 CCDS33007.1 19q13.13 2008-02-05 ENSG00000105738 ENSG00000105738 23094 23801 protein-coding gene gene with protein product NA Standard XM_032278 XM_005258671 NA Approved KIAA0545 uc002ohk.3 O60292 OTTHUMG00000073727 ENST00000222345.6:c.*174G>A chr19.hg19:g.38697054G>A NA Q2TV87 hg19 CCDS33007.1 0.02 6.425288 CGCxCAC COVERED NOVEL SIPA1L3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000156294.2 0 8.425865 KEEP 0 0 0 28 926 GG 0.999997 0.999997 0 + 7 60 248 0 0 15.58525 157 60 5462 226 ENST00000222345.6 0.042683 1 SPINT2 10653 __UNKNOWN__ __UNKNOWN__ 19 38779856 38779856 __UNKNOWN__ Intron SNP C C T rs3745948 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:38779856C>T ENST00000587090.1 + 4 433 SPINT2_ENST00000454580.3_Intron|CTB-102L5.4_ENST00000591889.1_Intron|SPINT2_ENST00000301244.7_Intron O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 NA NA cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021) endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867) large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) Aggccaggtgcggtggctcac 0.512 NA C||| 238 0.047524 0.0499 0.0706 5008 , , NA 17628 0.1002 NA 0.0109 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 C , 196,4210 123.3+/-160.7 3,190,2010 61 58 59 , -1.2 0 19 dbSNP_107 59 154,8446 73.8+/-136.5 0,154,4146 no intron,intron SPINT2 NM_001166103.1,NM_021102.3 , 3,344,6156 TT,TC,CC 1.7907,4.4485,2.6911 , , 38779856 350,12656 2203 4300 6503 SO:0001627 intron_variant U78095 CCDS12510.1, CCDS54261.1 19q13.2 2010-05-12 2005-08-17 ENSG00000167642 ENSG00000167642 10653 11247 protein-coding gene gene with protein product placental bikunin 605124 serine protease inhibitor, Kunitz type, 2 NA 9115294, 9346890 Standard NM_021102 NA Approved Kop, HAI-2 uc002ohr.2 O43291 ENST00000587090.1:c.241+25C>T chr19.hg19:g.38779856C>T NA A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0 hg19 0.02 1.628612 GTGxGGT COVERED NOVEL SPINT2-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000458152.1 6 16.385009 KEEP 0 1 30 65 2194 CC 1 0.999948 0 + 5 60 179 0 0 11.713084 93 60 3119 195 ENST00000587090.1 0.05102 0.999948 CATSPERG 57828 __UNKNOWN__ __UNKNOWN__ 19 38852918 38852918 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:38852918C>A ENST00000409235.3 + 18 2272 CATSPERG_ENST00000410018.1_Intron|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_Intron NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma NA NA cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ACCAGGTAGGCGGAGCGGATT 0.706 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK128220 CCDS12514.2 19q13.1 2014-05-13 2012-02-22 2009-07-17 ENSG00000099338 ENSG00000099338 57828 25243 protein-coding gene gene with protein product 613452 chromosome 19 open reading frame 15, cation channel, sperm-associated, gamma C19orf15 NA 19516020 Standard NM_021185 NM_021185 NA Approved DKFZp434A1022, FLJ46353 uc002oih.4 Q6ZRH7 OTTHUMG00000153223 ENST00000409235.3:c.2157+6C>A chr19.hg19:g.38852918C>A NA A6NEG6|Q659E1 hg19 CCDS12514.2 0.02 3.044002 AGGxGGA COVERED NOVEL CATSPERG-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000330204.1 0 7.872554 KEEP 0 6 80 57 1365 CC 1 1 0 + 28 60 429 0 0 20.565805 205 60 5227 329 ENST00000409235.3 0.120172 1 CATSPERG 57828 __UNKNOWN__ __UNKNOWN__ 19 38861362 38861362 __UNKNOWN__ Missense_Mutation SNP T T C rs2286550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:38861362T>C ENST00000409235.3 + 29 3525 c.3410T>C c.(3409-3411)aTg>aCg p.M1137T CATSPERG_ENST00000410018.1_Missense_Mutation_p.M1097T|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 1137 NA M -> T (in dbSNP:rs2286550). cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283) CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 ATGGGCTCCATGTTCAGCTCC 0.542 NA T||| 351 0.0700879 0.0734 0.0994 5008 , , NA 19665 0.1567 NA 0.0109 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 T THR/MET 321,4085 170.5+/-200.9 8,305,1890 125 117 120 3410 -6.8 0 19 dbSNP_100 120 179,8421 81.5+/-144.1 2,175,4123 yes missense CATSPERG NM_021185.4 81 10,480,6013 CC,CT,TT 2.0814,7.2855,3.8444 benign 1137/1160 38861362 500,12506 2203 4300 6503 SO:0001583 missense AK128220 CCDS12514.2 19q13.1 2014-05-13 2012-02-22 2009-07-17 ENSG00000099338 ENSG00000099338 57828 25243 protein-coding gene gene with protein product 613452 chromosome 19 open reading frame 15, cation channel, sperm-associated, gamma C19orf15 NA 19516020 Standard NM_021185 NM_021185 NA Approved DKFZp434A1022, FLJ46353 uc002oih.4 Q6ZRH7 OTTHUMG00000153223 ENST00000409235.3:c.3410T>C chr19.hg19:g.38861362T>C ENSP00000386962:p.Met1137Thr NA A6NEG6|Q659E1 hg19 CCDS12514.2 0.02 9.012926 CCAxGTT COVERED 155 0.07097069597069597 34 0.06910569105691057 29 0.08011049723756906 86 0.15034965034965034 6 0.0079155672823219 T 4.019 0.000860 0.07819 0.072855 0.020814 ENSG00000099338 ENST00000410018;ENST00000409235;ENST00000409410 T;T 0.21191 2.02;2.02 4.25 -6.84 0.01687 . 1.902390 0.02848 N 0.128823 T 0.00039 0.0001 N 0.08118 0 0.80722 P 0.0 B;B 0.09022 0.002;0.002 B;B 0.04013 0.001;0.001 T 0.20773 -1.0265 9 0.33940 T 0.23 -2.7446 3.2076 0.06671 0.3074:0.1188:0.4478:0.126 rs2286550;rs17721705;rs2286550 1137;1097 Q6ZRH7;B8ZZI7 CTSRG_HUMAN;. T 1097;1137;1137 ENSP00000387057:M1097T;ENSP00000386962:M1137T ENSP00000386962:M1137T M + 2 0 CATSPERG 43553202 0.000000 0.05858 0.000000 0.03702 0.034000 0.12701 -0.397000 0.07269 -1.461000 0.01909 -0.686000 0.03744 ATG NOVEL CATSPERG-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000330204.1 2 9.027155 KEEP 0 0 0 30 954 TT 0.999997 0.999997 0 + 9 60 319 0 0 19.8888 211 60 7765 294 ENST00000409235.3 0.040909 1 FAM98C 147965 __UNKNOWN__ __UNKNOWN__ 19 38894102 38894102 __UNKNOWN__ Missense_Mutation SNP G G A rs3745961 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:38894102G>A ENST00000343358.7 + 2 190 c.190G>A c.(190-192)Gcg>Acg p.A64T FAM98C_ENST00000588262.1_Missense_Mutation_p.A64T|FAM98C_ENST00000252530.5_Missense_Mutation_p.A64T Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 64 NA endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGAGGCGGGCGCGGAGGTGCT 0.766 NA G||| 220 0.0439297 0.0023 0.0893 5008 , , NA 9970 0.1329 NA 0.0109 False NA ,,, NA NA NA 2504 0.0102 NA NA NA NA 0 G THR/ALA 11,2361 0,11,1175 2 3 2 190 2 1 19 dbSNP_107 2 84,5644 0,84,2780 no missense FAM98C NM_174905.3 58 0,95,3955 AA,AG,GG 1.4665,0.4637,1.1728 benign 64/350 38894102 95,8005 1186 2864 4050 SO:0001583 missense CCDS42562.1 19q13.2 2008-02-05 ENSG00000130244 147965 27119 protein-coding gene gene with protein product NA 12477932 Standard NM_174905 NM_174905 NA Approved FLJ44669 uc002oin.1 Q17RN3 ENST00000343358.7:c.190G>A chr19.hg19:g.38894102G>A ENSP00000340348:p.Ala64Thr NA A6NMW3|Q66K45 hg19 0.02 1.464794 GGCxCGG COVERED 114 0.0521978021978022 1 0.0020325203252032522 24 0.06629834254143646 83 0.1451048951048951 6 0.0079155672823219 g 10.04 1.241303 0.22711 0.004637 0.014665 ENSG00000130244 ENST00000252530;ENST00000343358 T;T 0.43688 0.94;0.97 4.15 1.98 0.26296 . 0.277854 0.19206 U 0.120044 T 0.00073 0.0002 N 0.03115 -0.41 0.47374 P 5.929999999999547E-4 B;B;B 0.21452 0.056;0.025;0.006 B;B;B 0.15484 0.013;0.007;0.005 T 0.22382 -1.0218 9 0.13108 T 0.6 -10.0994 5.938 0.19177 0.2484:0.0:0.7516:0.0 rs3745961 64;64;64 B7ZLI5;Q17RN3-2;Q17RN3 .;.;FA98C_HUMAN T 64 ENSP00000252530:A64T;ENSP00000340348:A64T ENSP00000252530:A64T A + 1 0 FAM98C 43585942 0.122000 0.22280 0.980000 0.43619 0.874000 0.50279 0.631000 0.24568 0.498000 0.27948 0.550000 0.68814 GCG NOVEL FAM98C-004 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000459223.1 0 15.649286 KEEP 0 0 0 52 1756 GG 1 0.999907 0 + 4 60 131 0 0 7.832133 90 60 2879 193 ENST00000343358.7 0.042553 0.999907 RYR1 6261 __UNKNOWN__ __UNKNOWN__ 19 38990456 38990456 __UNKNOWN__ Silent SNP C C T rs78795178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:38990456C>T ENST00000359596.3 + 44 7209 c.7209C>T c.(7207-7209)cgC>cgT p.R2403R RYR1_ENST00000355481.4_Silent_p.R2403R|RYR1_ENST00000360985.3_Silent_p.R2403R P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2403 6 X approximate repeats. NA calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) ACCGGCGGCGCGAGCAGTGAG 0.697 NA C||| 194 0.038738 0.0008 0.0014 5008 , , NA 10926 0.1905 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 1,4395 0,1,2197 17 19 18 7209,7209 -7.5 0.6 19 dbSNP_131 18 1,8593 0,1,4296 no coding-synonymous,coding-synonymous RYR1 NM_000540.2,NM_001042723.1 , 0,2,6493 TT,TC,CC 0.0116,0.0227,0.0154 , 2403/5039,2403/5034 38990456 2,12988 2198 4297 6495 SO:0001819 synonymous_variant J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261 Ion channels / Ryanodine receptors 10483 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 137 180901 central core disease of muscle MHS, MHS1, CCO NA 1862346, 16621918 Standard NM_000540 NA Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.7209C>T chr19.hg19:g.38990456C>T NA Q16314|Q16368|Q9NPK1|Q9P1U4 hg19 CCDS33011.1 0.02 2.000328 GCGxGAG COVERED NOVEL RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462137.1 1 11.133874 KEEP 0 0 0 37 1261 CC 1 0.995083 0 + 7 60 247 0 0 18.300802 60 60 1989 140 ENST00000359596.3 0.104478 0.995084 RYR1 6261 __UNKNOWN__ __UNKNOWN__ 19 39052108 39052108 __UNKNOWN__ Intron SNP C C T rs75797287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39052108C>T ENST00000359596.3 + 90 12624 RYR1_ENST00000355481.4_Intron|RYR1_ENST00000360985.3_Intron P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) NA NA calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085) cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786) AGGGAACCCGCGCGCGTGCAA 0.662 NA C||| 217 0.0433307 0.0 0.0029 5008 , , NA 17654 0.2123 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C , 2,4396 0,2,2197 25 20 22 , 0.5 0 19 dbSNP_131 22 0,8586 0,0,4293 no intron,intron RYR1 NM_000540.2,NM_001042723.1 , 0,2,6490 TT,TC,CC 0.0,0.0455,0.0154 , , 39052108 2,12982 2199 4293 6492 SO:0001627 intron_variant J05200 CCDS33011.1, CCDS42563.1 19q13.1 2014-09-17 ENSG00000196218 6261 Ion channels / Ryanodine receptors 10483 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 137 180901 central core disease of muscle MHS, MHS1, CCO NA 1862346, 16621918 Standard NM_000540 NA Approved RYR, PPP1R137 uc002oit.3 P21817 ENST00000359596.3:c.12624+14C>T chr19.hg19:g.39052108C>T NA Q16314|Q16368|Q9NPK1|Q9P1U4 hg19 CCDS33011.1 0.02 4.02383 CCGxGCG COVERED NOVEL RYR1-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462137.1 1 2.708292 KEEP 0 0 0 9 296 CC 0.99254 0.992539 0 + 11 60 365 0 0 25.837802 108 60 3464 139 ENST00000359596.3 0.092437 0.999999 MAP4K1 11184 __UNKNOWN__ __UNKNOWN__ 19 39100594 39100594 __UNKNOWN__ Silent SNP G G A rs2287734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39100594G>A ENST00000396857.2 - 12 989 c.882C>T c.(880-882)ccC>ccT p.P294P MAP4K1_ENST00000591517.1_Silent_p.P294P|MAP4K1_ENST00000589130.1_Silent_p.P290P|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000586296.1_Silent_p.P294P|MAP4K1_ENST00000589002.1_5'UTR NM_001042600.1 NP_001036065.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 294 NA activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950) membrane (GO:0016020) ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTCCTTTCCCGGGATTCTTCA 0.567 NA G||| 605 0.120807 0.0318 0.1513 5008 , , NA 18791 0.252 NA 0.0229 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 G , 114,3682 3,108,1787 77 75 76 882,882 -8.4 0.1 19 dbSNP_100 76 154,8078 3,148,3965 no coding-synonymous,coding-synonymous MAP4K1 NM_001042600.1,NM_007181.4 , 6,256,5752 AA,AG,GG 1.8707,3.0032,2.2281 , 294/822,294/834 39100594 268,11760 1898 4116 6014 SO:0001819 synonymous_variant U66464 CCDS42564.1, CCDS59385.1 19q13.1-q13.4 2011-06-09 ENSG00000104814 11184 2.7.11.1 Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases 6863 protein-coding gene gene with protein product hematopoietic progenitor kinase 1 601983 NA 8824585 Standard NM_001042600 NM_001042600 NA Approved HPK1 uc002oix.1 Q92918 ENST00000396857.2:c.882C>T chr19.hg19:g.39100594G>A NA hg19 CCDS42564.1 0.02 9.045398 CCCxGGA COVERED NOVEL MAP4K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453393.1 0 10.230418 KEEP 0 0 0 34 1123 GG 0.999998 0.999998 0 - 11 60 398 0 0 25.671021 229 60 7983 353 ENST00000396857.2 0.045833 1 MAP4K1 11184 __UNKNOWN__ __UNKNOWN__ 19 39106924 39106924 __UNKNOWN__ Intron SNP A A G rs2303041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39106924A>G ENST00000396857.2 - 4 356 MAP4K1_ENST00000591517.1_Intron|MAP4K1_ENST00000589130.1_Intron|MAP4K1_ENST00000586296.1_Intron NM_001042600.1 NP_001036065.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 NA NA activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950) membrane (GO:0016020) ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GAGTAAGAATAATAATAGCAG 0.408 NA A||| 881 0.175919 0.0567 0.1614 5008 , , NA 15468 0.4683 NA 0.0229 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 A , 197,3499 5,187,1656 50 48 49 , -2.3 0 19 dbSNP_100 49 158,8012 3,152,3930 no intron,intron MAP4K1 NM_001042600.1,NM_007181.4 , 8,339,5586 GG,GA,AA 1.9339,5.3301,2.9917 , , 39106924 355,11511 1848 4085 5933 SO:0001627 intron_variant U66464 CCDS42564.1, CCDS59385.1 19q13.1-q13.4 2011-06-09 ENSG00000104814 11184 2.7.11.1 Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases 6863 protein-coding gene gene with protein product hematopoietic progenitor kinase 1 601983 NA 8824585 Standard NM_001042600 NM_001042600 NA Approved HPK1 uc002oix.1 Q92918 ENST00000396857.2:c.249-25T>C chr19.hg19:g.39106924A>G NA hg19 CCDS42564.1 0.02 4.54674 AATxATA COVERED NOVEL MAP4K1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453393.1 0 10.530261 KEEP 0 0 0 35 1060 AA 0.999999 0.999998 0 - 12 60 458 0 0 33.743417 128 60 4605 218 ENST00000396857.2 0.085714 1 ACTN4 81 __UNKNOWN__ __UNKNOWN__ 19 39195747 39195747 __UNKNOWN__ Intron SNP C C G rs78078603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39195747C>G ENST00000252699.2 + 4 560 ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 NA NA actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830) cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGCTTCAAGCCTCTTCCTGTT 0.607 NA C||| 92 0.0183706 0.0 0.036 5008 , , NA 20053 0.0585 NA 0.004 False NA ,,, NA NA NA 2504 0.0041 NA NA NA Colon(168;199 1940 10254 46213 46384) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D89980 CCDS12518.1 19q13 2013-01-10 ENSG00000130402 ENSG00000130402 81 EF-hand domain containing 166 protein-coding gene gene with protein product 604638 focal segmental glomerulosclerosis 1 FSGS1 NA 9461087, 10700177 Standard NM_004924 NA Approved uc002oja.2 O43707 OTTHUMG00000137382 ENST00000252699.2:c.484+87C>G chr19.hg19:g.39195747C>G NA A4K467|D6PXK4|O76048 hg19 CCDS12518.1 0.02 6.308624 AGCxTCT COVERED NOVEL ACTN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268091.1 2 10.533354 KEEP 0 0 0 35 1223 CC 0.999999 0.999999 0 + 7 60 257 0 0 16.446765 159 60 5970 223 ENST00000252699.2 0.042169 1 ACTN4 81 __UNKNOWN__ __UNKNOWN__ 19 39196745 39196745 __UNKNOWN__ Silent SNP C C T rs3745859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39196745C>T ENST00000252699.2 + 5 622 c.546C>T c.(544-546)aaC>aaT p.N182N ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 182 Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Polyphosphoinositide (PIP2)-binding. {ECO:0000255}. NA actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830) cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGTATAAGAACGTCAATGTGC 0.527 NA C||| 1699 0.339257 0.2322 0.2853 5008 , , NA 21014 0.4276 NA 0.4364 False NA ,,, NA NA NA 2504 0.3313 NA NA NA Colon(168;199 1940 10254 46213 46384) NA 0 C 1122,3284 401.9+/-332.2 135,852,1216 120 102 108 546 -0.2 1 19 dbSNP_107 108 3981,4619 552.5+/-386.1 925,2131,1244 no coding-synonymous ACTN4 NM_004924.4 1060,2983,2460 TT,TC,CC 46.2907,25.4653,39.2357 182/912 39196745 5103,7903 2203 4300 6503 SO:0001819 synonymous_variant D89980 CCDS12518.1 19q13 2013-01-10 ENSG00000130402 ENSG00000130402 81 EF-hand domain containing 166 protein-coding gene gene with protein product 604638 focal segmental glomerulosclerosis 1 FSGS1 NA 9461087, 10700177 Standard NM_004924 NA Approved uc002oja.2 O43707 OTTHUMG00000137382 ENST00000252699.2:c.546C>T chr19.hg19:g.39196745C>T NA A4K467|D6PXK4|O76048 hg19 CCDS12518.1 0.02 11.337131 GAAxGTC COVERED NOVEL ACTN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268091.1 1 23.749181 KEEP 0 0 0 79 2696 CC 1 1 0 + 8 60 305 0 0 18.932151 243 60 8750 406 ENST00000252699.2 0.031873 1 ACTN4 81 __UNKNOWN__ __UNKNOWN__ 19 39212400 39212400 __UNKNOWN__ Intron SNP C C T rs2306197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39212400C>T ENST00000252699.2 + 12 1518 ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 NA NA actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830) cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018) actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGCGGCAGCACGCCGAGGCCC 0.637 NA C||| 358 0.0714856 0.034 0.0072 5008 , , NA 18065 0.124 NA 0.004 False NA ,,, NA NA NA 2504 0.183 NA NA NA Colon(168;199 1940 10254 46213 46384) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D89980 CCDS12518.1 19q13 2013-01-10 ENSG00000130402 ENSG00000130402 81 EF-hand domain containing 166 protein-coding gene gene with protein product 604638 focal segmental glomerulosclerosis 1 FSGS1 NA 9461087, 10700177 Standard NM_004924 NA Approved uc002oja.2 O43707 OTTHUMG00000137382 ENST00000252699.2:c.1442+72C>T chr19.hg19:g.39212400C>T NA A4K467|D6PXK4|O76048 hg19 CCDS12518.1 0.02 7.897062 GCAxGCC COVERED NOVEL ACTN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000268091.1 1 39.722337 KEEP 0 0 0 132 4403 CC 1 1 0 + 7 60 249 0 0 14.464192 237 60 7724 467 ENST00000252699.2 0.028689 1 LGALS4 3960 __UNKNOWN__ __UNKNOWN__ 19 39294466 39294466 __UNKNOWN__ Intron SNP C C A rs11881973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39294466C>A ENST00000307751.4 - 5 979 NM_006149.3 NP_006140.1 P56470 LEG4_HUMAN lectin, galactoside-binding, soluble, 4 NA NA cell adhesion (GO:0007155) cytosol (GO:0005829)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GGCTGAGGGACCCCACTAGGG 0.582 NA C||| 862 0.172125 0.3079 0.1196 5008 , , NA 16711 0.0764 NA 0.0686 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 C 1219,3187 413.9+/-336.6 165,889,1149 58 59 58 1.1 0 19 dbSNP_120 58 616,7984 158.3+/-211.8 23,570,3707 no intron LGALS4 NM_006149.3 188,1459,4856 AA,AC,CC 7.1628,27.6668,14.1089 39294466 1835,11171 2203 4300 6503 SO:0001627 intron_variant CCDS12521.1 19q13.2 2014-03-19 2008-07-25 ENSG00000171747 ENSG00000171747 3960 Lectins, galactoside-binding 6565 protein-coding gene gene with protein product galectin 4 602518 NA 8063692 Standard NM_006149 NM_006149 NA Approved GAL4 uc002ojg.3 P56470 OTTHUMG00000182608 ENST00000307751.4:c.501+42G>T chr19.hg19:g.39294466C>A NA hg19 CCDS12521.1 0.02 6.20246 GGAxCCC COVERED NOVEL LGALS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462641.1 0 8.100366 KEEP 0 0 0 27 953 CC 0.999988 0.999988 0 - 8 60 290 0 0 18.649212 170 60 6210 262 ENST00000307751.4 0.044944 1 ECH1 1891 __UNKNOWN__ __UNKNOWN__ 19 39322525 39322525 __UNKNOWN__ 5'UTR SNP G G T rs78254559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39322525G>T ENST00000221418.4 - 0 120 AC104534.3_ENST00000594769.1_Intron NM_001398.2 NP_001389.2 Q13011 ECH1_HUMAN enoyl CoA hydratase 1, peroxisomal NA NA fatty acid beta-oxidation (GO:0006635) extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777) isomerase activity (GO:0016853)|receptor binding (GO:0005102) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 6 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AACCTGACAGGCAATGACGCC 0.597 NA G||| 214 0.0427316 0.0 0.0159 5008 , , NA 18417 0.0903 NA 0.002 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U16660 CCDS33014.1 19q13.1 2010-04-30 2010-04-30 ENSG00000104823 1891 3149 protein-coding gene gene with protein product 600696 enoyl Coenzyme A hydratase 1, peroxisomal NA 7558027 Standard XM_005258610 NA Approved HPXEL Q13011 ENST00000221418.4:c.-113C>A chr19.hg19:g.39322525G>T NA A8K745|Q8WVX0|Q96EZ9 hg19 CCDS33014.1 0.02 1.798387 CAGxCAA COVERED NOVEL ECH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462650.1 1 5.718651 KEEP 0 0 0 19 676 GG 0.99986 0.999695 0 - 5 60 176 0 0 11.602754 85 60 3165 116 ENST00000221418.4 0.055556 0.999835 RINL 126432 __UNKNOWN__ __UNKNOWN__ 19 39361658 39361658 __UNKNOWN__ Intron SNP G G C rs8100220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39361658G>C ENST00000591812.1 - 8 688 RINL_ENST00000340740.3_Intron|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Intron Q6ZS11 RINL_HUMAN Ras and Rab interactor-like NA NA endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031) actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726) GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085) endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2) 17 GCATTCGGTCGCCTAGAACAG 0.652 NA g||| 2012 0.401757 0.3873 0.464 5008 , , NA 16807 0.619 NA 0.3211 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 G , 1642,2764 470.2+/-355.7 316,1010,877 47 57 54 , -2.7 0 19 dbSNP_116 54 2937,5663 435.5+/-358.1 528,1881,1891 no intron,intron RINL NM_001195833.1,NM_198445.3 , 844,2891,2768 CC,CG,GG 34.1512,37.2674,35.2068 , , 39361658 4579,8427 2203 4300 6503 SO:0001627 intron_variant AK127808 CCDS12522.1, CCDS59386.1 19q13.2 2010-07-13 ENSG00000187994 ENSG00000187994 126432 24795 protein-coding gene gene with protein product NA Standard NM_198445 NM_001195833 NA Approved FLJ45909 uc010xuo.2 Q6ZS11 ENST00000591812.1:c.602-26C>G chr19.hg19:g.39361658G>C NA B4DPG5 hg19 CCDS59386.1 0.02 6.602064 GTCxCCT COVERED NOVEL RINL-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000460433.1 0 16.551719 KEEP 0 0 0 55 1864 GG 1 1 0 - 7 60 250 0 0 15.535684 171 60 5873 284 ENST00000591812.1 0.039326 1 SIRT2 22933 __UNKNOWN__ __UNKNOWN__ 19 39369514 39369514 __UNKNOWN__ 3'UTR SNP G G A rs2241703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39369514G>A ENST00000249396.7 - 0 1752 SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_3'UTR NM_012237.3 NP_036369.2 Q8IXJ6 SIR2_HUMAN sirtuin 2 NA NA autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042) centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819) chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) CCCCGTGGGGGCAGTTAGAGA 0.592 NA G||| 130 0.0259585 0.0 0.0043 5008 , , NA 17605 0.124 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083107 CCDS12523.1, CCDS46069.1, CCDS74361.1 19q13 2010-06-25 2010-06-25 ENSG00000068903 ENSG00000068903 22933 10886 protein-coding gene gene with protein product 604480 sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2, sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae) SIR2L NA 10393250, 10381378 Standard NM_012237 NA Approved uc002ojt.2 Q8IXJ6 OTTHUMG00000150480 ENST00000249396.7:c.*281C>T chr19.hg19:g.39369514G>A NA A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13 hg19 CCDS12523.1 0.02 3.76047 GGGxCAG COVERED NOVEL SIRT2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318278.1 0 9.63146 KEEP 0 0 0 32 1149 GG 0.999997 0.999997 0 - 7 60 238 0 0 14.874939 143 60 5274 218 ENST00000249396.7 0.046667 1 SIRT2 22933 __UNKNOWN__ __UNKNOWN__ 19 39370217 39370217 __UNKNOWN__ Intron SNP G G C rs386809124|rs45496398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39370217G>C ENST00000249396.7 - 14 1249 SIRT2_ENST00000358931.5_Intron|SIRT2_ENST00000392081.2_Intron NM_012237.3 NP_036369.2 Q8IXJ6 SIR2_HUMAN sirtuin 2 NA NA autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042) centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819) chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) TCGTGCCCCCGCTCCCACCTC 0.677 NA g||| 1195 0.238618 0.4629 0.1095 5008 , , NA 15793 0.3651 NA 0.0915 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 G ,, 541,843 121,299,272 16 20 19 ,, -3 0 19 dbSNP_127 19 270,2912 7,256,1328 no intron,intron,intron SIRT2 NM_001193286.1,NM_012237.3,NM_030593.2 ,, 128,555,1600 CC,CG,GG 8.4852,39.0896,17.7617 ,, ,, 39370217 811,3755 692 1591 2283 SO:0001627 intron_variant AF083107 CCDS12523.1, CCDS46069.1, CCDS74361.1 19q13 2010-06-25 2010-06-25 ENSG00000068903 ENSG00000068903 22933 10886 protein-coding gene gene with protein product 604480 sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2, sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae) SIR2L NA 10393250, 10381378 Standard NM_012237 NA Approved uc002ojt.2 Q8IXJ6 OTTHUMG00000150480 ENST00000249396.7:c.947+54C>G chr19.hg19:g.39370217G>C NA A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13 hg19 CCDS12523.1 0.02 11.038131 CCCxCTC COVERED NOVEL SIRT2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318278.1 2 18.928814 KEEP 0 0 0 63 2155 GG 1 1 0 - 15 60 488 0 0 30.895467 259 60 8942 414 ENST00000249396.7 0.054745 1 PLEKHG2 64857 __UNKNOWN__ __UNKNOWN__ 19 39904589 39904589 __UNKNOWN__ Intron SNP C C T rs3746084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39904589C>T ENST00000409794.3 + 2 828 PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Intron NM_022835.2 NP_073746.2 Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTAGTTACTCCCAGGGGCCCC 0.557 NA C||| 543 0.108427 0.1498 0.0605 5008 , , NA 15480 0.1587 NA 0.0646 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024429 CCDS33022.2 19q13.2 2013-01-11 ENSG00000090924 ENSG00000090924 64857 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 29515 protein-coding gene gene with protein product 611893 NA 11839748, 18045877 Standard NM_022835 NM_022835 NA Approved CLG, FLJ00018, ARHGEF42 uc010xuz.2 Q9H7P9 OTTHUMG00000152570 ENST00000409794.3:c.-22-116C>T chr19.hg19:g.39904589C>T NA B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699 hg19 CCDS33022.2 0.02 21.554176 CTCxCAG COVERED NOVEL PLEKHG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326802.1 7 83.370383 KEEP 0 0 0 277 9851 CC 1 1 0 + 17 60 623 0 0 38.928773 443 60 16425 998 ENST00000409794.3 0.036957 1 PLEKHG2 64857 __UNKNOWN__ __UNKNOWN__ 19 39905489 39905489 __UNKNOWN__ Intron SNP A A T rs12609068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:39905489A>T ENST00000409794.3 + 3 959 PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Intron NM_022835.2 NP_073746.2 Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 NA NA apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ctggaccaagacagggcagtg 0.547 NA A||| 521 0.104034 0.1346 0.0562 5008 , , NA 18671 0.1587 NA 0.0646 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK024429 CCDS33022.2 19q13.2 2013-01-11 ENSG00000090924 ENSG00000090924 64857 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 29515 protein-coding gene gene with protein product 611893 NA 11839748, 18045877 Standard NM_022835 NM_022835 NA Approved CLG, FLJ00018, ARHGEF42 uc010xuz.2 Q9H7P9 OTTHUMG00000152570 ENST00000409794.3:c.110-143A>T chr19.hg19:g.39905489A>T NA B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699 hg19 CCDS33022.2 0.02 -0.192983 AAGxCAG COVERED NOVEL PLEKHG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326802.1 0 3.00907 KEEP 0 0 0 10 318 AA 0.992708 0.454419 0 + 3 60 102 0 0 7.826708 19 60 647 37 ENST00000409794.3 0.136364 0.457757 FCGBP 8857 __UNKNOWN__ __UNKNOWN__ 19 40376675 40376675 __UNKNOWN__ Missense_Mutation SNP G G A rs77872255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:40376675G>A ENST00000221347.6 - 24 11754 c.11747C>T c.(11746-11748)gCg>gTg p.A3916V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3916 NA extracellular vesicular exosome (GO:0070062) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCTCCAGCCGCCTGGCAAGC 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 76 99 91 NA NA 19 NA 40376675 2133 4208 6341 SO:0001583 missense D84239 19q13.2 2013-09-20 ENSG00000090920 ENSG00000275395 8857 13572 protein-coding gene gene with protein product IgG Fc binding protein, Human Fc gamma BP NA 9182547 Standard NM_003890 NM_003890 NA Approved FC(GAMMA)BP uc002omp.4 Q9Y6R7 OTTHUMG00000182580 ENST00000221347.6:c.11747C>T chr19.hg19:g.40376675G>A ENSP00000221347:p.Ala3916Val NA O95784 hg19 CCDS12546.1 0.02 6.193925 GCCxCCT COVERED . . . . . . . . . . g 16.77 3.215030 0.58452 . . ENSG00000090920 ENST00000221347 T 0.77620 -1.11 3.67 -0.612 0.11597 Uncharacterised domain, cysteine-rich (2); . . . . T 0.73713 0.3622 M 0.81497 2.545 0.09310 N 1 P 0.47604 0.898 B 0.40782 0.34 T 0.63084 -0.6716 9 0.33141 T 0.24 . 7.2433 0.26107 0.0:0.2561:0.459:0.2849 . 3916 Q9Y6R7 FCGBP_HUMAN V 3916 ENSP00000221347:A3916V ENSP00000221347:A3916V A - 2 0 FCGBP 45068515 0.000000 0.05858 0.897000 0.35233 0.896000 0.52359 -0.630000 0.05502 0.118000 0.18165 0.313000 0.20887 GCG NOVEL FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462507.1 0 10.834315 KEEP 95 0 0 36 1257 GG 0.999863 0.999863 0 - 8 49 284 0 0 18.263839 160 51 5611 373 ENST00000221347.6 0.047619 1 FCGBP 8857 __UNKNOWN__ __UNKNOWN__ 19 40392631 40392631 __UNKNOWN__ Missense_Mutation SNP G G A rs80068592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:40392631G>A ENST00000221347.6 - 16 7880 c.7873C>T c.(7873-7875)Ccc>Tcc p.P2625S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2625 VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}. NA extracellular vesicular exosome (GO:0070062) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGAGAGTCGGGCACCACCTCC 0.642 NA G||| 1353 0.270168 0.1808 0.4121 5008 , , NA 18489 0.2093 NA 0.3569 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 14 17 16 NA NA 19 NA 40392631 2165 4278 6443 SO:0001583 missense D84239 19q13.2 2013-09-20 ENSG00000090920 ENSG00000275395 8857 13572 protein-coding gene gene with protein product IgG Fc binding protein, Human Fc gamma BP NA 9182547 Standard NM_003890 NM_003890 NA Approved FC(GAMMA)BP uc002omp.4 Q9Y6R7 OTTHUMG00000182580 ENST00000221347.6:c.7873C>T chr19.hg19:g.40392631G>A ENSP00000221347:p.Pro2625Ser NA O95784 hg19 CCDS12546.1 0.02 2.096741 CGGxCAC UNCOVERED . . . . . . . . . . G 7.277 0.608327 0.14002 . . ENSG00000090920 ENST00000221347 T 0.18657 2.2 2.66 2.66 0.31614 von Willebrand factor, type D domain (1); . . . . T 0.27731 0.0682 M 0.71920 2.185 0.37706 P 0.07559199999999999 P 0.41131 0.739 P 0.48304 0.573 T 0.29761 -1.0001 8 0.02654 T 1 . 12.5273 0.56093 0.0:0.0:1.0:0.0 . 2625 Q9Y6R7 FCGBP_HUMAN S 2625 ENSP00000221347:P2625S ENSP00000221347:P2625S P - 1 0 FCGBP 45084471 0.034000 0.19679 0.110000 0.21437 0.008000 0.06430 0.899000 0.28417 1.495000 0.48549 0.298000 0.19748 CCC NOVEL FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462507.1 2 3.310503 KEEP 28 0 0 11 372 GG 0 0 0 - 5 60 166 0 0 11.672348 51 60 1852 112 ENST00000221347.6 0.089286 0.979526 FCGBP 8857 __UNKNOWN__ __UNKNOWN__ 19 40408146 40408146 __UNKNOWN__ Intron SNP G G A rs56186636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:40408146G>A ENST00000221347.6 - 9 4593 NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein NA NA extracellular vesicular exosome (GO:0070062) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCAAGGAGGGGGTGCCGAT 0.672 NA g||| 1224 0.244409 0.0741 0.4049 5008 , , NA 18043 0.2163 NA 0.3598 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 G 486,3920 221.3+/-238.5 30,426,1747 33 36 35 -3.8 0 19 dbSNP_129 35 3017,5581 454.3+/-363.5 538,1941,1820 no intron FCGBP NM_003890.2 568,2367,3567 AA,AG,GG 35.0896,11.0304,26.9379 40408146 3503,9501 2203 4299 6502 SO:0001627 intron_variant D84239 19q13.2 2013-09-20 ENSG00000090920 ENSG00000275395 8857 13572 protein-coding gene gene with protein product IgG Fc binding protein, Human Fc gamma BP NA 9182547 Standard NM_003890 NM_003890 NA Approved FC(GAMMA)BP uc002omp.4 Q9Y6R7 OTTHUMG00000182580 ENST00000221347.6:c.4586-11C>T chr19.hg19:g.40408146G>A NA O95784 hg19 CCDS12546.1 0.02 4.445939 GAGxGGG COVERED NOVEL FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462507.1 0 3.310721 KEEP 2 0 0 11 386 GG 0.992708 0.992695 0 - 6 60 220 0 0 14.85279 100 60 3617 136 ENST00000221347.6 0.056604 0.999987 FCGBP 8857 __UNKNOWN__ __UNKNOWN__ 19 40408821 40408821 __UNKNOWN__ Missense_Mutation SNP C C G rs11083543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:40408821C>G ENST00000221347.6 - 8 4025 c.4018G>C c.(4018-4020)Gtg>Ctg p.V1340L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1340 VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}. NA V -> L (in dbSNP:rs11083543). extracellular vesicular exosome (GO:0070062) p.V1340L(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAGCACCACGGGCAGCTTC 0.577 NA C||| 1291 0.257788 0.121 0.4092 5008 , , NA 19419 0.2173 NA 0.3608 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 1 Substitution - Missense(1) ovary(1) C LEU/VAL 611,3795 45,521,1637 23 20 21 4018 -0.1 0 19 dbSNP_120 21 2976,5622 523,1930,1846 yes missense FCGBP NM_003890.2 32 568,2451,3483 GG,GC,CC 34.6127,13.8675,27.5838 probably-damaging 1340/5406 40408821 3587,9417 2203 4299 6502 SO:0001583 missense D84239 19q13.2 2013-09-20 ENSG00000090920 ENSG00000275395 8857 13572 protein-coding gene gene with protein product IgG Fc binding protein, Human Fc gamma BP NA 9182547 Standard NM_003890 NM_003890 NA Approved FC(GAMMA)BP uc002omp.4 Q9Y6R7 OTTHUMG00000182580 ENST00000221347.6:c.4018G>C chr19.hg19:g.40408821C>G ENSP00000221347:p.Val1340Leu NA O95784 hg19 CCDS12546.1 0.02 7.526164 CCAxGGG COVERED 624 0.2857142857142857 76 0.15447154471544716 148 0.4088397790055249 125 0.21853146853146854 275 0.3627968337730871 C 12.27 1.888760 0.33348 0.138675 0.346127 ENSG00000090920 ENST00000221347 T 0.58797 0.31 4.95 -0.14 0.13456 von Willebrand factor, type D domain (3); 0.451564 0.18780 N 0.131345 T 0.00012 0.0000 N 0.25031 0.7 0.80722 P 0.0 B 0.25235 0.121 B 0.21151 0.033 T 0.40232 -0.9574 9 0.11485 T 0.65 . 2.6779 0.05085 0.1375:0.4356:0.268:0.1589 rs11083543;rs11083543 1340 Q9Y6R7 FCGBP_HUMAN L 1340 ENSP00000221347:V1340L ENSP00000221347:V1340L V - 1 0 FCGBP 45100661 0.000000 0.05858 0.015000 0.15790 0.023000 0.10783 -0.881000 0.04179 0.120000 0.18254 -0.182000 0.12963 GTG NOVEL FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462507.1 0 8.728566 KEEP 6 0 0 29 1031 CC 0.999997 0.999997 0 - 8 60 319 0 0 21.225419 187 60 6743 294 ENST00000221347.6 0.041026 1 FCGBP 8857 __UNKNOWN__ __UNKNOWN__ 19 40408910 40408910 __UNKNOWN__ Intron SNP T T C rs11083544 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:40408910T>C ENST00000221347.6 - 8 3998 NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein NA NA extracellular vesicular exosome (GO:0070062) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ggtaggaccctagttcaagcc 0.517 NA T||| 1225 0.244609 0.0741 0.4049 5008 , , NA 18751 0.2173 NA 0.3598 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84239 19q13.2 2013-09-20 ENSG00000090920 ENSG00000275395 8857 13572 protein-coding gene gene with protein product IgG Fc binding protein, Human Fc gamma BP NA 9182547 Standard NM_003890 NM_003890 NA Approved FC(GAMMA)BP uc002omp.4 Q9Y6R7 OTTHUMG00000182580 ENST00000221347.6:c.3991-62A>G chr19.hg19:g.40408910T>C NA O95784 hg19 CCDS12546.1 0.02 7.23105 CCCxAGT COVERED NOVEL FCGBP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462507.1 0 7.51925 KEEP 0 0 0 25 761 TT 0.999931 0.999931 0 - 8 60 316 0 0 21.130067 176 60 6336 259 ENST00000221347.6 0.043478 1 HIPK4 147746 __UNKNOWN__ __UNKNOWN__ 19 40886783 40886783 __UNKNOWN__ Missense_Mutation SNP G G A rs192823203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:40886783G>A ENST00000291823.2 - 3 1399 c.1115C>T c.(1114-1116)tCg>tTg p.S372L NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 372 NA histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CACTTGCAGCGAGAGGCGGTA 0.667 NA G||| 17 0.00339457 0.0 0.0 5008 , , NA 18975 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 61 66 64 NA NA 19 NA 40886783 2200 4294 6494 SO:0001583 missense BC034501 CCDS12555.1 19q13.2 2008-02-05 ENSG00000160396 147746 19007 protein-coding gene gene with protein product 611712 NA Standard NM_144685 NM_144685 NA Approved FLJ32818 uc002onp.3 Q8NE63 ENST00000291823.2:c.1115C>T chr19.hg19:g.40886783G>A ENSP00000291823:p.Ser372Leu NA A8K863|Q96M54 hg19 CCDS12555.1 0.02 13.810951 AGCxAGA COVERED 13 0.005952380952380952 2 0.0040650406504065045 0 0.0 11 0.019230769230769232 0 0.0 G 15.16 2.750343 0.49257 . . ENSG00000160396 ENST00000291823;ENST00000452139 T 0.68903 -0.36 5.81 5.81 0.92471 Protein kinase-like domain (1); 0.000000 0.49305 D 0.000151 T 0.58793 0.2147 L 0.29908 0.895 0.42316 D 0.992237 D 0.69078 0.997 D 0.70227 0.968 T 0.70710 -0.4797 10 0.66056 D 0.02 . 15.5788 0.76414 0.0:0.0:1.0:0.0 . 372 Q8NE63 HIPK4_HUMAN L 372;337 ENSP00000291823:S372L ENSP00000291823:S372L S - 2 0 HIPK4 45578623 0.144000 0.22641 0.959000 0.39883 0.310000 0.27922 0.528000 0.23002 2.757000 0.94681 0.462000 0.41574 TCG NOVEL HIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462593.1 5 13.477272 KEEP 0 1 29 55 1906 GG 1 1 0 - 12 60 419 0 0 24.723768 353 60 12560 483 ENST00000291823.2 0.032877 1 LTBP4 8425 __UNKNOWN__ __UNKNOWN__ 19 41119726 41119726 __UNKNOWN__ Intron SNP G G A rs189305306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41119726G>A ENST00000602240.1 + 21 2647 LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000396819.3_Intron|LTBP4_ENST00000204005.9_Intron|LTBP4_ENST00000308370.7_Intron|LTBP4_ENST00000243562.9_5'UTR Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 NA NA extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179) extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024) central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAAGGCGTGAGAGGCCTAGGA 0.637 NA A||| 31 0.0061901 0.0 0.0 5008 , , NA 13167 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y13622 CCDS74368.1, CCDS74369.1, CCDS74370.1 19q13.1-q13.2 2011-10-20 ENSG00000090006 8425 Latent transforming growth factor, beta binding proteins 6717 protein-coding gene gene with protein product 604710 NA 9660815, 9271198 Standard NM_003573 NM_003573 NA Approved LTBP-4, LTBP-4L, FLJ46318, FLJ90018 uc002ooh.1 Q8N2S1 ENST00000602240.1:c.2648-96G>A chr19.hg19:g.41119726G>A NA O00508|O75412|O75413 hg19 0.02 3.668732 TGAxAGG COVERED NOVEL LTBP4-002 KNOWN sequence_error|basic processed_transcript NA protein_coding OTTHUMT00000462815.2 2 12.627246 KEEP 0 0 0 42 1466 GG 1 0.999997 0 + 5 60 169 0 0 10.359849 110 60 4113 180 ENST00000602240.1 0.043478 0.999997 ADCK4 79934 __UNKNOWN__ __UNKNOWN__ 19 41209740 41209740 __UNKNOWN__ Silent SNP G G A rs186764121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41209740G>A ENST00000324464.3 - 8 898 c.597C>T c.(595-597)ctC>ctT p.L199L ADCK4_ENST00000450541.1_Silent_p.L158L|ADCK4_ENST00000243583.6_Silent_p.L158L NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 199 Protein kinase. NA integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) protein serine/threonine kinase activity (GO:0004674) NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) agtccctgccgagctcctctt 0.607 NA G||| 10 0.00199681 0.0 0.0014 5008 , , NA 18201 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 26 28 27 NA NA 19 NA 41209740 2203 4300 6503 SO:0001819 synonymous_variant AK022291 CCDS12562.1, CCDS46081.1 19q13.2 2008-02-05 ENSG00000123815 79934 19041 protein-coding gene gene with protein product 615567 NA Standard NM_024876 NM_024876 NA Approved FLJ12229, COQ8 uc002oor.2 Q96D53 ENST00000324464.3:c.597C>T chr19.hg19:g.41209740G>A NA Q8TAJ1|Q9HA52 hg19 CCDS12562.1 0.02 8.423665 GCCxAGC COVERED NOVEL ADCK4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462731.1 0 18.961177 KEEP 0 0 0 63 2184 GG 1 1 0 - 8 60 291 0 0 18.002133 212 60 7506 374 ENST00000324464.3 0.036364 1 C19orf54 284325 __UNKNOWN__ __UNKNOWN__ 19 41248009 41248009 __UNKNOWN__ 3'UTR SNP C C T rs3745213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41248009C>T ENST00000378313.2 - 0 1504 C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000470681.1_3'UTR NM_198476.3 NP_940878.3 Q5BKX5 CS054_HUMAN chromosome 19 open reading frame 54 NA NA breast(1)|lung(1)|urinary_tract(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CTGAGGCTGACGCAGTTCAGT 0.537 NA C||| 486 0.0970447 0.0121 0.1398 5008 , , NA 18347 0.0694 NA 0.1302 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK123126 CCDS12564.2 19q13.2 2012-10-26 ENSG00000188493 ENSG00000188493 284325 24758 protein-coding gene gene with protein product NA Standard NM_198476 NM_198476 NA Approved FLJ41131 uc002oou.1 Q5BKX5 OTTHUMG00000150174 ENST00000378313.2:c.*329G>A chr19.hg19:g.41248009C>T NA A8MSZ5|B4DNU7 hg19 CCDS12564.2 0.02 21.143134 TGAxGCA COVERED NOVEL C19orf54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316701.1 0 30.095329 KEEP 0 0 0 100 3393 CC 1 1 0 - 17 60 626 0 0 38.417981 489 60 16956 715 ENST00000378313.2 0.033597 1 C19orf54 284325 __UNKNOWN__ __UNKNOWN__ 19 41251180 41251180 __UNKNOWN__ Intron SNP T T G rs2369302 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41251180T>G ENST00000378313.2 - 2 443 C19orf54_ENST00000598729.1_Intron|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000470681.1_Intron NM_198476.3 NP_940878.3 Q5BKX5 CS054_HUMAN chromosome 19 open reading frame 54 NA NA breast(1)|lung(1)|urinary_tract(2) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CTGGGAGTGGTCGTATCCAGG 0.597 NA G||| 2951 0.589257 0.5446 0.7378 5008 , , NA 18801 0.4067 NA 0.6769 False NA ,,, NA NA NA 2504 0.6421 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK123126 CCDS12564.2 19q13.2 2012-10-26 ENSG00000188493 ENSG00000188493 284325 24758 protein-coding gene gene with protein product NA Standard NM_198476 NM_198476 NA Approved FLJ41131 uc002oou.1 Q5BKX5 OTTHUMG00000150174 ENST00000378313.2:c.324-77A>C chr19.hg19:g.41251180T>G NA A8MSZ5|B4DNU7 hg19 CCDS12564.2 0.02 2.473221 TGGxCGT COVERED NOVEL C19orf54-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316701.1 0 4.512261 KEEP 0 0 0 15 475 TT 0.99649 0.993226 0 - 5 60 182 0 0 12.767207 65 60 2300 92 ENST00000378313.2 0.071429 0.996724 SNRPA 6626 __UNKNOWN__ __UNKNOWN__ 19 41257454 41257454 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41257454A>C ENST00000243563.3 + 1 623 SNRPA_ENST00000599570.1_Intron NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A NA NA gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) cgtcccctgcacccgcctctc 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X06347 CCDS12565.1 19q13.1 2013-02-12 ENSG00000077312 6626 RNA binding motif (RRM) containing 11151 protein-coding gene gene with protein product 182285 NA 1701111 Standard NM_004596 NM_004596 NA Approved U1A, U1-A, Mud1 uc002ooz.3 P09012 ENST00000243563.3:c.73+68A>C chr19.hg19:g.41257454A>C NA hg19 CCDS12565.1 0.02 -0.153187 TGCxCCC COVERED NOVEL SNRPA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463118.2 0 2.238315 KEEP 0 1 12 12 262 AA 0.994391 0.320996 0 + 7 60 85 0 1 6.390978 11 60 273 63 ENST00000243563.3 0.388889 0.322807 RAB4B-EGLN2 100529264 __UNKNOWN__ __UNKNOWN__ 19 41286163 41286163 __UNKNOWN__ Intron SNP C C G rs2287691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41286163C>G ENST00000594136.1 + 3 202 MIA-RAB4B_ENST00000600729.1_Intron|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_Intron|RAB4B_ENST00000594800.1_Intron|RAB4B_ENST00000357052.2_Intron RAB4B-EGLN2 readthrough (NMD candidate) NA NA NA CTAGGTTCTCCTTGACCTCAA 0.557 NA C||| 965 0.192692 0.3124 0.1715 5008 , , NA 19766 0.0764 NA 0.1491 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK291385 19q13.2 2013-05-09 2013-05-09 ENSG00000171570 ENSG00000171570 100529264 44465 other readthrough RAB4B-EGLN2 readthrough long non-coding RNA NA 23026137 Standard NR_037791 NR_037791 NA Approved RERT-lncRNA OTTHUMG00000182702 ENST00000594136.1:c.98-127C>G chr19.hg19:g.41286163C>G NA hg19 CCDS33030.1 0.02 5.482126 CTCxTTG COVERED NOVEL RAB4B-EGLN2-003 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000464583.2 2 10.530293 KEEP 0 0 0 35 1208 CC 0.999999 0.999999 0 + 9 60 294 0 0 17.951546 183 60 6602 250 ENST00000594136.1 0.046875 1 RAB4B-EGLN2 100529264 __UNKNOWN__ __UNKNOWN__ 19 41289756 41289756 __UNKNOWN__ Intron SNP G G A rs2287692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41289756G>A ENST00000594136.1 + 4 380 MIA-RAB4B_ENST00000600729.1_Intron|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_Intron|RAB4B_ENST00000594800.1_Intron|RAB4B_ENST00000357052.2_Intron RAB4B-EGLN2 readthrough (NMD candidate) NA NA NA GTGGGTGCCCGGGGTGGGTGG 0.657 NA G||| 497 0.0992412 0.0098 0.1311 5008 , , NA 12176 0.0764 NA 0.1282 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 G 170,4236 104.7+/-143.2 8,154,2041 23 28 26 3.5 0 19 dbSNP_100 26 1140,7460 223.3+/-260.1 77,986,3237 no intron RAB4B NM_016154.4 85,1140,5278 AA,AG,GG 13.2558,3.8584,10.0723 41289756 1310,11696 2203 4300 6503 SO:0001627 intron_variant AK291385 19q13.2 2013-05-09 2013-05-09 ENSG00000171570 ENSG00000171570 100529264 44465 other readthrough RAB4B-EGLN2 readthrough long non-coding RNA NA 23026137 Standard NR_037791 NR_037791 NA Approved RERT-lncRNA OTTHUMG00000182702 ENST00000594136.1:c.275+11G>A chr19.hg19:g.41289756G>A NA hg19 CCDS33030.1 0.02 1.8306 CCCxGGG COVERED NOVEL RAB4B-EGLN2-003 KNOWN basic|appris_principal|readthrough_transcript|CCDS nonsense_mediated_decay NA protein_coding OTTHUMT00000464583.2 0 5.717344 KEEP 0 0 0 19 632 GG 0.99986 0.998325 0 + 4 60 136 0 0 8.734251 71 60 2369 110 ENST00000594136.1 0.053333 0.998465 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41383153 41383153 __UNKNOWN__ Missense_Mutation SNP A A G rs2261144 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41383153A>G ENST00000301146.4 - 7 1644 c.1103T>C c.(1102-1104)aTg>aCg p.M368T CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.M317T NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 368 NA M -> T (in dbSNP:rs2261144). endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGCCAAACTCATGGGGATCAC 0.547 NA .||| 1572 0.313898 0.1657 0.451 5008 , , NA 19217 0.2569 NA 0.3499 False NA ,,, NA NA NA 2504 0.4387 NA NA NA NA 0 A THR/MET,THR/MET 899,3507 346.4+/-309.0 103,693,1407 104 91 96 1103,950 1.2 0 19 dbSNP_100 96 2843,5755 447.3+/-361.5 502,1839,1958 no missense,missense CYP2A7 NM_000764.2,NM_030589.2 81,81 605,2532,3365 GG,GA,AA 33.0658,20.404,28.7758 possibly-damaging,possibly-damaging 368/495,317/444 41383153 3742,9262 2203 4299 6502 SO:0001583 missense NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.1103T>C chr19.hg19:g.41383153A>G ENSP00000301146:p.Met368Thr NA Q13121 hg19 CCDS12569.1 0.02 11.79576 CTCxTGG COVERED 667 0.30540293040293043 90 0.18292682926829268 163 0.45027624309392267 149 0.26048951048951047 265 0.3496042216358839 A 0.003 -2.412682 0.00191 0.20404 0.330658 ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.67865 -0.29;-0.29 2.29 1.19 0.21007 . 0.117868 0.56097 U 0.000024 T 0.00012 0.0000 L 0.35793 1.09 0.53688 P 2.8999999999945736E-5 B;B;B 0.28082 0.2;0.046;0.025 B;B;B 0.39094 0.29;0.049;0.097 T 0.31110 -0.9955 9 0.06757 T 0.87 . 7.4198 0.27065 0.7781:0.2219:0.0:0.0 rs2261144;rs4001949;rs2261144 368;317;368 B7ZKR0;F8W816;P20853 .;.;CP2A7_HUMAN T 368;317 ENSP00000301146:M368T;ENSP00000291764:M317T ENSP00000291764:M317T M - 2 0 CYP2A7 46074993 0.558000 0.26554 0.007000 0.13788 0.284000 0.27059 3.405000 0.52630 0.121000 0.18284 0.155000 0.16302 ATG NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 2 15.94695 KEEP 0 0 0 53 1644 AA 1 1 0 - 21 60 752 0 0 53.291098 246 60 9024 406 ENST00000301146.4 0.078652 1 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41383799 41383799 __UNKNOWN__ Missense_Mutation SNP G G A rs3869579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41383799G>A ENST00000301146.4 - 6 1472 c.931C>T c.(931-933)Cgc>Tgc p.R311C CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R260C NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 311 NA R -> C (in dbSNP:rs3869579). endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AAGCCATAGCGCAGGGTGGTG 0.572 NA .||| 2600 0.519169 0.4251 0.6744 5008 , , NA 20077 0.4405 NA 0.5189 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 G CYS/ARG,CYS/ARG 1980,2426 558.0+/-379.9 450,1080,673 109 87 94 931,778 2.2 0.2 19 dbSNP_108 94 4351,4247 580.5+/-391.1 1121,2109,1069 yes missense,missense CYP2A7 NM_000764.2,NM_030589.2 180,180 1571,3189,1742 AA,AG,GG 49.3952,44.9387,48.685 probably-damaging,probably-damaging 311/495,260/444 41383799 6331,6673 2203 4299 6502 SO:0001583 missense NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.931C>T chr19.hg19:g.41383799G>A ENSP00000301146:p.Arg311Cys NA Q13121 hg19 CCDS12569.1 0.02 6.388267 AGCxCAG COVERED 1112 0.5091575091575091 205 0.4166666666666667 248 0.6850828729281768 268 0.46853146853146854 391 0.5158311345646438 G 11.13 1.548885 0.27652 0.449387 0.506048 ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.69175 -0.38;-0.38 2.18 2.18 0.27775 . 0.000000 0.85682 U 0.000000 T 0.00012 0.0000 L 0.61036 1.89 0.28088 P 0.9319206 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.979;1.0 T 0.50074 -0.8870 9 0.87932 D 0 . 11.4495 0.50145 0.0:0.0:1.0:0.0 rs3869579;rs61100976;rs3869579 311;260;311 B7ZKR0;F8W816;P20853 .;.;CP2A7_HUMAN C 311;260 ENSP00000301146:R311C;ENSP00000291764:R260C ENSP00000291764:R260C R - 1 0 CYP2A7 46075639 0.002000 0.14202 0.152000 0.22495 0.070000 0.16714 0.766000 0.26560 1.215000 0.43411 0.184000 0.17185 CGC NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 3 10.5319 KEEP 0 0 0 35 1192 GG 0.999999 0.999999 0 - 7 60 245 0 0 15.42582 150 60 5117 239 ENST00000301146.4 0.044586 1 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41384637 41384637 __UNKNOWN__ Intron SNP C C T rs4079367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41384637C>T ENST00000301146.4 - 5 1373 CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 NA NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGGCTTTGCACCTCCCCGCAC 0.562 NA .||| 2600 0.519169 0.4251 0.6744 5008 , , NA 18828 0.4405 NA 0.5189 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 C , 1974,2432 553.3+/-378.7 450,1074,679 47 40 43 , -4 0 19 dbSNP_108 43 4343,4255 571.1+/-389.5 1122,2099,1078 no intron,intron CYP2A7 NM_000764.2,NM_030589.2 , 1572,3173,1757 TT,TC,CC 49.4883,44.8025,48.5774 , , 41384637 6317,6687 2203 4299 6502 SO:0001627 intron_variant NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.831+27G>A chr19.hg19:g.41384637C>T NA Q13121 hg19 CCDS12569.1 0.02 4.521092 GCAxCTC COVERED NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 0 6.320611 KEEP 0 0 0 21 743 CC 0.999869 0.999869 0 - 9 60 310 0 0 20.878705 133 60 4929 195 ENST00000301146.4 0.06338 1 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41386079 41386079 __UNKNOWN__ Silent SNP C C T rs199790043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41386079C>T ENST00000301146.4 - 4 1105 c.564G>A c.(562-564)ggG>ggA p.G188G CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.G137G NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 188 NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CAAAGCGGTCCCCAAAGACAA 0.552 NA .||| 28 0.00559105 0.0 0.0 5008 , , NA 16142 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 118 101 107 NA NA 19 NA 41386079 2203 4299 6502 SO:0001819 synonymous_variant NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.564G>A chr19.hg19:g.41386079C>T NA Q13121 hg19 CCDS12569.1 0.02 6.36351 GTCxCCA COVERED NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 0 8.125996 KEEP 0 0 0 27 931 CC 0.999988 0.999988 0 - 8 60 292 0 0 18.991328 163 60 5982 233 ENST00000301146.4 0.046784 1 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41386136 41386136 __UNKNOWN__ Missense_Mutation SNP A A C rs4142867 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41386136A>C ENST00000301146.4 - 4 1048 c.507T>G c.(505-507)gaT>gaG p.D169E CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.D118E NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 169 NA D -> E (in dbSNP:rs4142867). endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) p.D169E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGAAGGTGGGATCGATATTGG 0.547 NA .||| 2600 0.519169 0.4251 0.6758 5008 , , NA 15007 0.4395 NA 0.5189 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 1 Substitution - Missense(1) prostate(1) A GLU/ASP,GLU/ASP 1977,2429 557.6+/-379.8 447,1083,673 112 100 104 507,354 -0.2 0.7 19 dbSNP_110 104 4355,4245 580.8+/-391.1 1124,2107,1069 no missense,missense CYP2A7 NM_000764.2,NM_030589.2 45,45 1571,3190,1742 CC,CA,AA 49.3605,44.8706,48.6852 benign,benign 169/495,118/444 41386136 6332,6674 2203 4300 6503 SO:0001583 missense NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.507T>G chr19.hg19:g.41386136A>C ENSP00000301146:p.Asp169Glu NA Q13121 hg19 CCDS12569.1 0.02 4.39308 GGGxTCG COVERED 1113 0.5096153846153846 206 0.4186991869918699 248 0.6850828729281768 268 0.46853146853146854 391 0.5158311345646438 a 11.54 1.669766 0.29693 0.448706 0.506395 ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.72505 -0.66;-0.66 2.2 -0.181 0.13291 . 0.176525 0.46758 U 0.000274 T 0.00012 0.0000 M 0.68593 2.085 0.49483 P 2.0699999999995722E-4 B;B;B 0.29862 0.017;0.128;0.259 B;B;B 0.36134 0.014;0.098;0.218 T 0.38520 -0.9657 9 0.59425 D 0.04 . 5.7105 0.17933 0.7168:0.0:0.2832:0.0 rs4142867 169;118;169 B7ZKR0;F8W816;P20853 .;.;CP2A7_HUMAN E 169;118 ENSP00000301146:D169E;ENSP00000291764:D118E ENSP00000291764:D118E D - 3 2 CYP2A7 46077976 0.310000 0.24527 0.715000 0.30552 0.201000 0.24016 -0.547000 0.06055 -0.239000 0.09710 0.157000 0.16456 GAT NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 2 3.609397 KEEP 0 0 0 12 355 AA 0.993634 0.993628 0 - 5 60 184 0 0 11.915985 107 60 3796 136 ENST00000301146.4 0.044643 0.999995 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41386209 41386209 __UNKNOWN__ Intron SNP A A G rs3815704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41386209A>G ENST00000301146.4 - 4 1035 CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 NA NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TCTGAGGAGAATCAGAATTCC 0.607 NA .||| 2603 0.519768 0.4259 0.6758 5008 , , NA 12654 0.4415 NA 0.5189 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.494-60T>C chr19.hg19:g.41386209A>G NA Q13121 hg19 CCDS12569.1 0.02 4.321244 AGAxTCA COVERED NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 0 2.406922 KEEP 1 0 0 8 247 AA 0.99257 0.992562 0 - 6 47 183 0 0 11.480209 103 60 3678 125 ENST00000301146.4 0.055046 0.999992 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41386282 41386282 __UNKNOWN__ Intron SNP G G C rs3815705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41386282G>C ENST00000301146.4 - 3 1035 CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 NA NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AAGTGCGGGCGCCTTTCCCCA 0.612 NA .||| 2029 0.405152 0.388 0.5303 5008 , , NA 13803 0.2579 NA 0.4145 False NA ,,, NA NA NA 2504 0.4816 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.493+101C>G chr19.hg19:g.41386282G>C NA Q13121 hg19 CCDS12569.1 0.02 7.837856 GGCxCCT COVERED NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 0 7.519818 KEEP 0 0 0 25 772 GG 0.999931 0.999931 0 - 13 60 473 0 0 34.281867 138 60 4527 178 ENST00000301146.4 0.086093 1 CYP2A7 1549 __UNKNOWN__ __UNKNOWN__ 19 41386420 41386420 __UNKNOWN__ Missense_Mutation SNP A A C rs56081734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41386420A>C ENST00000301146.4 - 3 998 c.457T>G c.(457-459)Tcg>Gcg p.S153A CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.S102A NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 153 NA endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) p.S153A(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGGAAGCCCGACTCCTCCTGG 0.667 NA .||| 2597 0.51857 0.4228 0.6744 5008 , , NA 12641 0.4405 NA 0.5189 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 1 Substitution - Missense(1) ovary(1) C ALA/SER,ALA/SER 1911,2495 444,1023,736 49 45 47 457,304 2.2 0 19 dbSNP_129 47 4240,4360 1113,2014,1173 yes missense,missense CYP2A7 NM_000764.2,NM_030589.2 99,99 1557,3037,1909 CC,CA,AA 49.3023,43.3727,47.2936 benign,benign 153/495,102/444 41386420 6151,6855 2203 4300 6503 SO:0001583 missense NM_000764 CCDS12569.1, CCDS42570.1 19q13.2 2013-07-25 2003-01-14 ENSG00000198077 ENSG00000198077 1549 Cytochrome P450s 2611 protein-coding gene gene with protein product 608054 cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7 NA 7668294, 15128046 Standard NM_030589 NM_030589 NA Approved CYP2A uc002opm.3 P20853 OTTHUMG00000182715 ENST00000301146.4:c.457T>G chr19.hg19:g.41386420A>C ENSP00000301146:p.Ser153Ala NA Q13121 hg19 CCDS12569.1 0.02 24.204542 CCGxCTC COVERED 1109 0.5077838827838828 203 0.41260162601626016 247 0.6823204419889503 268 0.46853146853146854 391 0.5158311345646438 N 0.017 -1.508056 0.00984 0.433727 0.493023 ENSG00000198077 ENST00000301146;ENST00000291764 T;T 0.63744 -0.06;-0.06 2.22 2.22 0.28083 . 0.117066 0.56097 N 0.000023 T 0.00012 0.0000 N 0.00332 -1.63 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.04013 0.001;0.001;0.001 T 0.44251 -0.9340 9 0.02654 T 1 . 3.9601 0.09407 0.2379:0.6238:0.0:0.1384 rs56081734;rs58855145 153;102;153 B7ZKR0;F8W816;P20853 .;.;CP2A7_HUMAN A 153;102 ENSP00000301146:S153A;ENSP00000291764:S102A ENSP00000291764:S102A S - 1 0 CYP2A7 46078260 0.060000 0.20803 0.008000 0.14137 0.004000 0.04260 0.384000 0.20668 0.260000 0.21731 -1.043000 0.02367 TCG NOVEL CYP2A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463269.2 1 26.311491 KEEP 0 1 36 100 3085 AA 1 1 0 - 21 60 797 0 0 51.717713 489 60 17049 793 ENST00000301146.4 0.041176 1 CTC-490E21.12 0 __UNKNOWN__ __UNKNOWN__ 19 41397370 41397370 __UNKNOWN__ Intron SNP A A C rs3852870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41397370A>C ENST00000601627.1 + 2 119 CYP2G1P_ENST00000252909.4_RNA NA NA NA TCACATAGAAACTTATGACTT 0.363 NA N||| 2895 0.578075 0.6445 0.6916 5008 , , NA 20216 0.4415 NA 0.506 False NA ,,, NA NA NA 2504 0.6227 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000601627.1:c.120-526A>C chr19.hg19:g.41397370A>C NA hg19 0.02 2.326166 GAAxCTT COVERED NOVEL CTC-490E21.12-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000463921.1 1 2.404928 KEEP 0 0 0 8 220 AA 0.99257 0.985548 0 + 5 60 173 0 0 12.07059 59 60 1999 78 ENST00000601627.1 0.078125 0.992926 CTC-490E21.12 0 __UNKNOWN__ __UNKNOWN__ 19 41403325 41403325 __UNKNOWN__ Intron SNP T T C rs7252852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41403325T>C ENST00000601627.1 + 4 430 CYP2G1P_ENST00000252909.4_RNA NA NA NA atccctaaagtGCAGAGGAGT 0.418 NA N||| 2806 0.560304 0.5855 0.6873 5008 , , NA 18857 0.4405 NA 0.506 False NA ,,, NA NA NA 2504 0.6155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000601627.1:c.198-718T>C chr19.hg19:g.41403325T>C NA hg19 0.02 16.024532 AAGxGCA COVERED NOVEL CTC-490E21.12-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000463921.1 8 18.655667 KEEP 0 0 0 62 1941 TT 1 1 0 + 17 60 600 0 0 38.102563 357 60 13048 543 ENST00000601627.1 0.045455 1 CYP2G1P 22952 __UNKNOWN__ __UNKNOWN__ 19 41405962 41405962 __UNKNOWN__ RNA SNP T T G rs4803400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41405962T>G ENST00000252909.4 + 0 2060 NR_040249.1 Q6ZSU1 C2G1P_HUMAN cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene NA NA heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) NA CTTCTCTCTATGCTCGCTGGT 0.582 NA N||| 2806 0.560304 0.5855 0.6859 5008 , , NA 21413 0.4405 NA 0.506 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF274766 19q13.2 2014-03-18 2004-10-13 2004-10-15 ENSG00000130612 ENSG00000130612 22952 Cytochrome P450s 2633 pseudogene pseudogene 601133 cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene CYP2G1 NA 8561797, 11186129 Standard NR_040249 NA Approved CYP2GP1 uc002opp.2 Q6ZSU1 OTTHUMG00000182772 ENST00000252909.4: chr19.hg19:g.41405962T>G NA hg19 0.02 12.439782 CTAxGCT COVERED 1179 0.5398351648351648 275 0.5589430894308943 256 0.7071823204419889 269 0.47027972027972026 379 0.5 C 9.997 1.232291 0.22626 . . ENSG00000130612 ENST00000252909 . . . 3.12 -4.56 0.03431 . 0.801022 0.10021 N 0.726026 T 0.00012 0.0000 . . . . . . . . . . . . T 0.35176 -0.9799 5 0.66056 D 0.02 . 4.1358 0.10170 0.3975:0.1974:0.0:0.4051 rs4803400;rs17713373;rs56716115;rs4803400 . . . G 138 . ENSP00000252909:C138G C + 1 0 AC008537.1 46097802 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.115000 0.10741 -0.865000 0.04073 -1.231000 0.01572 TGC NOVEL CYP2G1P-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000463549.1 4 13.571314 KEEP 0 1 34 57 1728 TT 1 1 0 + 18 60 669 0 0 47.02957 244 60 9009 392 ENST00000252909.4 0.068702 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 41414363 41414363 __UNKNOWN__ IGR SNP A A T rs8100418 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41414363A>T NA NA CYP2G1P (7950 upstream) : CYP2B7P1 (15760 downstream) NA NA NA CGCCGGCACCAGCACAGCCCT 0.632 NA a||| 1911 0.381589 0.3359 0.4395 5008 , , NA 11554 0.3036 NA 0.3877 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.41414363A>T NA hg19 0.02 8.881649 ACCxGCA COVERED NOVEL 0 0 19.860562 KEEP 0 0 0 66 2082 AA 1 1 0 11 60 416 0 0 27.546554 225 60 8029 361 0.04661 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 41414481 41414481 __UNKNOWN__ IGR SNP G G A rs72480748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41414481G>A NA NA CYP2G1P (8068 upstream) : CYP2B7P1 (15642 downstream) NA NA p.R186C(1) NA GATTTGAAGCGGAAGTTCTGC 0.547 NA g||| 1482 0.295927 0.149 0.4236 5008 , , NA 16111 0.2599 NA 0.3171 False NA ,,, NA NA NA 2504 0.4192 NA NA NA NA 1 Substitution - Missense(1) stomach(1) NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.41414481G>A NA hg19 0.02 16.535127 AGCxGAA COVERED 614 0.28113553113553114 84 0.17073170731707318 151 0.4171270718232044 138 0.24125874125874125 241 0.3179419525065963 G 7.789 0.711107 0.15239 . . ENSG00000198251 ENST00000412510 . . . 2.72 -5.43 0.02632 . . . . . T 0.00012 0.0000 . . . . . . . . . . . . T 0.30090 -0.9990 4 0.48119 T 0.1 . 7.4567 0.27270 0.1925:0.0:0.6864:0.1211 . . . . C 186 . ENSP00000388274:R186C R - 1 0 AC008537.2 46106321 0.000000 0.05858 0.005000 0.12908 0.053000 0.15095 -3.175000 0.00571 -1.621000 0.01562 0.386000 0.25728 CGC NOVEL 0 1 35.810868 KEEP 0 0 0 119 4024 GG 1 1 0 25 60 937 0 0 65.458359 360 60 12903 643 0.064935 1 CYP2S1 29785 __UNKNOWN__ __UNKNOWN__ 19 41703503 41703503 __UNKNOWN__ Intron SNP G G A rs338595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41703503G>A ENST00000310054.4 + 3 559 CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 NA NA small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 tactcaggaggctgaggcagg 0.552 NA g||| 1813 0.362021 0.711 0.2219 5008 , , NA 15141 0.2103 NA 0.3171 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA301039 CCDS12573.1 19q13.2 2013-11-11 2003-01-14 ENSG00000167600 ENSG00000167600 29785 Cytochrome P450s 15654 protein-coding gene gene with protein product 611529 cytochrome P450, subfamily IIS, polypeptide 1 NA 11181079 Standard NM_030622 NA Approved uc002opw.3 Q96SQ9 OTTHUMG00000182721 ENST00000310054.4:c.344-181G>A chr19.hg19:g.41703503G>A NA Q9BZ66 hg19 CCDS12573.1 0.02 -0.149136 GAGxCTG COVERED NOVEL CYP2S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463287.1 4 3.310622 KEEP 1 0 0 11 379 GG 0.992708 0.289872 0 + 3 60 93 0 0 7.291787 14 60 508 31 ENST00000310054.4 0.176471 0.292001 CYP2S1 29785 __UNKNOWN__ __UNKNOWN__ 19 41703660 41703660 __UNKNOWN__ Intron SNP T T C rs338594 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41703660T>C ENST00000310054.4 + 3 559 CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 NA NA small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 GCCGGTCCCTTTTTGAGTCTA 0.562 NA c||| 2929 0.584864 0.7496 0.3948 5008 , , NA 16094 0.5744 NA 0.5577 False NA ,,, NA NA NA 2504 0.5358 NA NA NA NA 0 C 3113,1293 436.4+/-344.6 1105,903,195 74 78 77 0.5 0 19 dbSNP_79 77 4691,3909 544.8+/-384.7 1277,2137,886 no intron CYP2S1 NM_030622.6 2382,3040,1081 CC,CT,TT 45.4535,29.3463,39.9969 41703660 7804,5202 2203 4300 6503 SO:0001627 intron_variant AA301039 CCDS12573.1 19q13.2 2013-11-11 2003-01-14 ENSG00000167600 ENSG00000167600 29785 Cytochrome P450s 15654 protein-coding gene gene with protein product 611529 cytochrome P450, subfamily IIS, polypeptide 1 NA 11181079 Standard NM_030622 NA Approved uc002opw.3 Q96SQ9 OTTHUMG00000182721 ENST00000310054.4:c.344-24T>C chr19.hg19:g.41703660T>C NA Q9BZ66 hg19 CCDS12573.1 0.02 1.836812 CCTxTTT COVERED NOVEL CYP2S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463287.1 1 7.823097 KEEP 0 0 0 26 812 TT 0.999957 0.999896 0 + 7 60 249 0 0 17.328106 90 60 3189 153 ENST00000310054.4 0.072165 0.99994 CYP2S1 29785 __UNKNOWN__ __UNKNOWN__ 19 41704304 41704304 __UNKNOWN__ Intron SNP T T C rs338593 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41704304T>C ENST00000310054.4 + 4 709 CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 NA NA small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 TGGGTTCAGCTCCAACCTGCT 0.612 NA c||| 2935 0.586062 0.7526 0.3948 5008 , , NA 18133 0.5744 NA 0.5586 False NA ,,, NA NA NA 2504 0.5368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AA301039 CCDS12573.1 19q13.2 2013-11-11 2003-01-14 ENSG00000167600 ENSG00000167600 29785 Cytochrome P450s 15654 protein-coding gene gene with protein product 611529 cytochrome P450, subfamily IIS, polypeptide 1 NA 11181079 Standard NM_030622 NA Approved uc002opw.3 Q96SQ9 OTTHUMG00000182721 ENST00000310054.4:c.494-63T>C chr19.hg19:g.41704304T>C NA Q9BZ66 hg19 CCDS12573.1 0.02 1.970633 AGCxCCA COVERED NOVEL CYP2S1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463287.1 0 3.007906 KEEP 0 0 0 10 288 TT 0.992708 0.978962 0 + 4 60 137 0 0 9.259388 55 60 2066 73 ENST00000310054.4 0.067797 0.986153 TGFB1 7040 __UNKNOWN__ __UNKNOWN__ 19 41838174 41838174 __UNKNOWN__ Silent SNP C C T rs190566789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41838174C>T ENST00000221930.5 - 6 1739 c.873G>A c.(871-873)aaG>aaA p.K291K NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 291 NA active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058) axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578) antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114) endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) CGCAGCAGTTCTTCTCCGTGG 0.637 NA C||| 32 0.00638978 0.0008 0.0 5008 , , NA 18413 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 48 38 41 873 3.7 1 19 41 0,8600 0,0,4300 no coding-synonymous TGFB1 NM_000660.4 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 291/391 41838174 1,13005 2203 4300 6503 SO:0001819 synonymous_variant X02812 CCDS33031.1 19q13.1 2014-01-30 2007-02-16 ENSG00000105329 7040 Endogenous ligands 11766 protein-coding gene gene with protein product Camurati-Engelmann disease, prepro-transforming growth factor beta-1 190180 TGFB, DPD1 NA 10631145, 10843814 Standard NM_000660 NA Approved CED, TGFbeta uc002oqh.2 P01137 ENST00000221930.5:c.873G>A chr19.hg19:g.41838174C>T NA A8K792|Q9UCG4 hg19 CCDS33031.1 0.02 3.803369 GTTxTTC COVERED NOVEL TGFB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463500.2 0 5.116722 KEEP 0 0 0 17 628 CC 0.999366 0.99936 0 - 5 60 174 0 0 10.936737 106 60 3969 145 ENST00000221930.5 0.045045 0.999994 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 41937095 41937095 __UNKNOWN__ IGR SNP G G A rs17318596 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41937095G>A NA NA B3GNT8 (2460 upstream) : ATP5SL (127 downstream) NA NA NA AGAGCTCAGCGCGGCGCCCAA 0.527 NA G||| 1888 0.376997 0.1528 0.5072 5008 , , NA 19667 0.5605 NA 0.3847 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 G 375,1377 40,295,541 103 92 96 http://www.ncbi.nlm.nih.gov/pubmed?term -5.3 0 19 dbSNP_123 96 1459,2523 271,917,803 yes near-gene-3 311,1212,1344 AA,AG,GG http://www.ncbi.nlm.nih.gov/pubmed?term 36.6399,21.4041,31.9847 41937095 1834,3900 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.41937095G>A NA hg19 0.02 20.499421 AGCxCGG COVERED 852 0.3901098901098901 85 0.17276422764227642 155 0.4281767955801105 308 0.5384615384615384 304 0.40105540897097625 G 7.349 0.622576 0.14193 0.214041 0.366399 ENSG00000248098 ENST00000378196 . . . 2.64 -5.28 0.02755 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.29518 -1.0009 4 0.51188 T 0.08 . 5.52 0.16927 0.1605:0.1277:0.5848:0.127 rs17318596;rs56950017;rs17318596 . . . T 353 . ENSP00000367438:A353T A + 1 0 BCKDHA 46628935 0.000000 0.05858 0.000000 0.03702 0.528000 0.34623 -1.499000 0.02285 -2.745000 0.00377 -0.487000 0.04747 GCG NOVEL 0 1 22.406291 KEEP 0 1 33 86 3001 GG 1 1 0 30 60 1112 0 0 77.546737 424 60 14711 669 0.066079 1 ATP5SL 55101 __UNKNOWN__ __UNKNOWN__ 19 41939297 41939297 __UNKNOWN__ Missense_Mutation SNP C C G rs1043413 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41939297C>G ENST00000221943.9 - 5 481 c.476G>C c.(475-477)tGc>tCc p.C159S ATP5SL_ENST00000590641.2_Missense_Mutation_p.C138S|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Missense_Mutation_p.C132S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.C132S|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.C165S NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 159 NA C -> S (in dbSNP:rs1043413). {ECO:0000269|PubMed:14702039}. mitochondrion (GO:0005739) breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 GTCCACGTGGCAGCAGCGCTG 0.667 NA G||| 2538 0.506789 0.5938 0.5504 5008 , , NA 15390 0.5694 NA 0.4095 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 G SER/CYS,,,,SER/CYS,SER/CYS 2459,1947 525.4+/-371.6 688,1083,432 44 48 47 494,,,,395,476 3.4 1 19 dbSNP_86 47 3366,5234 615.6+/-396.4 682,2002,1616 yes missense,intron,intron,intron,missense,missense ATP5SL NM_001167867.1,NM_001167868.1,NM_001167869.1,NM_001167870.1,NM_001167871.1,NM_018035.2 112,,,,112,112 1370,3085,2048 GG,GC,CC 39.1395,44.1897,44.787 benign,,,,benign,benign 165/264,,,,132/231,159/258 41939297 5825,7181 2203 4300 6503 SO:0001583 missense AK001103 CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1 19q13.2 2007-12-13 ENSG00000105341 55101 25496 protein-coding gene gene with protein product NA 12477932 Standard NM_018035 NM_001167867 NA Approved FLJ10241 uc002oqv.3 Q9NW81 ENST00000221943.9:c.476G>C chr19.hg19:g.41939297C>G ENSP00000221943:p.Cys159Ser NA B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43 hg19 CCDS33032.1 0.02 4.498235 TGGxAGC COVERED 1099 0.5032051282051282 296 0.6016260162601627 173 0.47790055248618785 311 0.5437062937062938 319 0.420844327176781 G 8.539 0.872772 0.17322 0.558103 0.391395 ENSG00000105341 ENST00000221943;ENST00000438807;ENST00000417807;ENST00000507129 T;T 0.27890 1.64;1.64 4.43 3.39 0.38822 . 0.070285 0.56097 N 0.000028 T 0.00012 0.0000 N 0.02751 -0.505 0.53005 P 3.6999999999953737E-5 B;B;B;B 0.06786 0.0;0.001;0.0;0.001 B;B;B;B 0.04013 0.0;0.0;0.001;0.001 T 0.39643 -0.9604 9 0.27082 T 0.32 -17.4755 7.8066 0.29206 0.0901:0.1624:0.7475:0.0 rs1043413;rs3170191;rs1043413 138;132;159;165 B4DFT4;E9PDC6;Q9NW81;F5H4W7 .;.;AT5SL_HUMAN;. S 159;132;165;235 ENSP00000221943:C159S;ENSP00000403910:C165S ENSP00000221943:C159S C - 2 0 ATP5SL 46631137 1.000000 0.71417 0.994000 0.49952 0.249000 0.25844 2.613000 0.46351 0.617000 0.30160 -0.215000 0.12644 TGC NOVEL ATP5SL-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460602.1 2 9.695256 KEEP 0 2 68 56 1945 CC 1 0.999999 0 - 10 60 366 0 0 26.323394 113 60 4142 238 ENST00000221943.9 0.081301 0.999999 ATP5SL 55101 __UNKNOWN__ __UNKNOWN__ 19 41944237 41944237 __UNKNOWN__ Missense_Mutation SNP T T C rs2231940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41944237T>C ENST00000221943.9 - 2 106 c.101A>G c.(100-102)aAt>aGt p.N34S ATP5SL_ENST00000592922.2_Missense_Mutation_p.N34S|ATP5SL_ENST00000595425.1_Missense_Mutation_p.N34S|ATP5SL_ENST00000589970.1_Missense_Mutation_p.N34S|ATP5SL_ENST00000590641.2_Missense_Mutation_p.N40S|ATP5SL_ENST00000301183.11_Missense_Mutation_p.N40S|ATP5SL_ENST00000597457.1_Missense_Mutation_p.N34S|ATP5SL_ENST00000438807.3_Missense_Mutation_p.N34S|ATP5SL_ENST00000417807.3_Missense_Mutation_p.N40S NM_018035.2 NP_060505.2 Q9NW81 AT5SL_HUMAN ATP5S-like 34 NA N -> S (in dbSNP:rs2231940). {ECO:0000269|PubMed:14702039}. mitochondrion (GO:0005739) p.N34S(1) breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 11 CTTCTTCTGATTGCCCTCTGG 0.572 NA T||| 1930 0.385383 0.1604 0.5144 5008 , , NA 19085 0.5635 NA 0.4066 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN 949,3457 360.9+/-315.4 107,735,1361 131 117 122 119,119,101,101,101,101 -6.2 0 19 dbSNP_98 122 3409,5191 503.6+/-375.9 697,2015,1588 yes missense,missense,missense,missense,missense,missense ATP5SL NM_001167867.1,NM_001167868.1,NM_001167869.1,NM_001167870.1,NM_001167871.1,NM_018035.2 46,46,46,46,46,46 804,2750,2949 CC,CT,TT 39.6395,21.5388,33.5076 benign,benign,benign,benign,benign,benign 40/264,40/192,34/186,34/159,34/231,34/258 41944237 4358,8648 2203 4300 6503 SO:0001583 missense AK001103 CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1 19q13.2 2007-12-13 ENSG00000105341 55101 25496 protein-coding gene gene with protein product NA 12477932 Standard NM_018035 NM_001167867 NA Approved FLJ10241 uc002oqv.3 Q9NW81 ENST00000221943.9:c.101A>G chr19.hg19:g.41944237T>C ENSP00000221943:p.Asn34Ser NA B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43 hg19 CCDS33032.1 0.02 9.670299 TGAxTGC COVERED 865 0.39606227106227104 84 0.17073170731707318 157 0.43370165745856354 307 0.5367132867132867 317 0.4182058047493404 T 0.758 -0.770415 0.02974 0.215388 0.396395 ENSG00000105341 ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129 T;T;T;T 0.24538 3.12;1.86;3.08;1.85 3.37 -6.19 0.02078 . 1.568770 0.04028 N 0.300879 T 0.00012 0.0000 N 0.05230 -0.09 0.80722 P 0.0 B;B;B;B;B;B;B 0.16603 0.018;0.015;0.015;0.015;0.01;0.001;0.005 B;B;B;B;B;B;B 0.16722 0.016;0.01;0.01;0.01;0.007;0.007;0.011 T 0.39702 -0.9601 9 0.07482 T 0.82 -25.6535 8.2286 0.31584 0.1416:0.5785:0.0:0.28 rs2231940;rs3182916;rs17318700;rs52816424;rs61271390;rs2231940 40;40;34;34;34;34;40 B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7 .;.;.;.;.;AT5SL_HUMAN;. S 34;34;40;40;110 ENSP00000221943:N34S;ENSP00000397413:N34S;ENSP00000403910:N40S;ENSP00000301183:N40S ENSP00000221943:N34S N - 2 0 ATP5SL 46636077 0.000000 0.05858 0.000000 0.03702 0.078000 0.17371 -6.233000 0.00074 -1.890000 0.01111 -1.151000 0.01829 AAT NOVEL ATP5SL-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460602.1 0 10.402799 KEEP 0 2 76 61 1920 TT 1 1 0 - 10 60 390 0 0 26.468855 193 60 6883 327 ENST00000221943.9 0.049261 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 41945848 41945848 __UNKNOWN__ IGR SNP G G T rs13344547 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:41945848G>T NA NA ATP5SL (7 upstream) : C19orf69 (3214 downstream) NA NA NA CTTATCCCACGCTCCTGGTTC 0.542 NA T||| 2428 0.484824 0.5136 0.549 5008 , , NA 17966 0.5665 NA 0.4085 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 T 2184,2222 590.4+/-387.4 533,1118,552 49 43 45 -0.9 0 19 dbSNP_121 45 3424,5176 637.1+/-399.2 702,2020,1578 no near-gene-5 1235,3138,2130 TT,TG,GG 39.814,49.5688,43.1186 41945848 5608,7398 2203 4300 6503 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.41945848G>T NA hg19 0.02 4.430956 CACxCTC COVERED NOVEL 0 2 14.817111 KEEP 0 2 65 72 2487 GG 1 1 0 6 60 186 0 0 10.929014 129 60 4507 278 0.044444 1 CEACAM4 1089 __UNKNOWN__ __UNKNOWN__ 19 42126675 42126675 __UNKNOWN__ Intron SNP G G C rs572811838 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:42126675G>C ENST00000221954.2 - 5 706 CEACAM4_ENST00000600925.1_Intron NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 NA NA integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCCTCCTGCAGGAGAGTGTAG 0.637 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 17556 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 69 69 69 NA NA 19 NA 42126675 692 1591 2283 SO:0001627 intron_variant D90276 CCDS33033.1 19q13.2 2013-01-11 ENSG00000105352 ENSG00000105352 1089 Immunoglobulin superfamily / V-set domain containing 1816 protein-coding gene gene with protein product CGM7 NA 2050678 Standard NM_001817 XM_005258434 NA Approved uc002orh.1 O75871 OTTHUMG00000151065 ENST00000221954.2:c.596-60C>G chr19.hg19:g.42126675G>C NA Q03715|Q7LDZ7 hg19 CCDS33033.1 0.02 4.419432 GCAxGAG COVERED NOVEL CEACAM4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321148.1 1 2.708798 KEEP 0 0 0 9 321 GG 0.99254 0.992532 0 - 6 60 210 0 0 13.780666 103 60 3820 147 ENST00000221954.2 0.055046 0.999992 CEACAM7 1087 __UNKNOWN__ __UNKNOWN__ 19 42181306 42181306 __UNKNOWN__ 3'UTR SNP C C T rs377246018 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:42181306C>T ENST00000006724.3 - 0 1033 CEACAM7_ENST00000338196.4_3'UTR|CEACAM7_ENST00000401731.1_3'UTR NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 NA NA anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) ATACCTACCACTCTTCCCGAA 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 98 79 85 NA NA 19 NA 42181306 2203 4300 6503 SO:0001624 3_prime_UTR_variant X98311 CCDS12583.1 19q13.2 2013-01-29 ENSG00000007306 ENSG00000007306 1087 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1819 protein-coding gene gene with protein product carcinoembryonic antigen gene family member 2 CGM2 NA 7806520, 9135022 Standard NM_006890 XM_005278379 NA Approved CEA uc002ori.1 Q14002 OTTHUMG00000151063 ENST00000006724.3:c.*34G>A chr19.hg19:g.42181306C>T NA A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2 hg19 CCDS12583.1 0.02 14.307838 CCAxTCT COVERED NOVEL CEACAM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321145.1 1 8.728375 KEEP 0 0 0 29 1017 CC 0.999997 0.999997 0 - 14 60 507 0 0 31.040038 386 60 14259 498 ENST00000006724.3 0.035 1 CEACAM7 1087 __UNKNOWN__ __UNKNOWN__ 19 42190859 42190859 __UNKNOWN__ Missense_Mutation SNP A A T rs8102488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:42190859A>T ENST00000006724.3 - 2 559 c.358T>A c.(358-360)Ttc>Atc p.F120I CEACAM7_ENST00000338196.4_Missense_Mutation_p.F120I|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Missense_Mutation_p.F120I|CEACAM7_ENST00000401731.1_Missense_Mutation_p.F120I NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 120 Ig-like V-type. NA F -> I (in dbSNP:rs8102488). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}. anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) AGGGTATAGAATCCTGCGTCA 0.458 NA T||| 2971 0.593251 0.8389 0.513 5008 , , NA 19283 0.5109 NA 0.4543 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 T ILE/PHE 3445,961 362.9+/-316.3 1344,757,102 183 180 181 358 -3.4 0 19 dbSNP_116 181 3981,4619 601.3+/-394.3 942,2097,1261 yes missense CEACAM7 NM_006890.3 21 2286,2854,1363 TT,TA,AA 46.2907,21.8112,42.9033 benign 120/266 42190859 7426,5580 2203 4300 6503 SO:0001583 missense X98311 CCDS12583.1 19q13.2 2013-01-29 ENSG00000007306 ENSG00000007306 1087 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1819 protein-coding gene gene with protein product carcinoembryonic antigen gene family member 2 CGM2 NA 7806520, 9135022 Standard NM_006890 XM_005278379 NA Approved CEA uc002ori.1 Q14002 OTTHUMG00000151063 ENST00000006724.3:c.358T>A chr19.hg19:g.42190859A>T ENSP00000006724:p.Phe120Ile NA A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2 hg19 CCDS12583.1 0.02 10.389875 AGAxTCC COVERED 1247 0.5709706959706959 404 0.8211382113821138 191 0.5276243093922652 302 0.527972027972028 350 0.46174142480211083 T 1.095 -0.662917 0.03454 0.781888 0.462907 ENSG00000007306 ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196 T;T;T 0.62232 0.04;0.04;0.04 1.68 -3.36 0.04913 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 L 0.54323 1.7 0.80722 P 0.0 B;B 0.06786 0.001;0.0 B;B 0.09377 0.004;0.004 T 0.39603 -0.9606 8 0.21014 T 0.42 . 3.9709 0.09452 0.5366:0.2689:0.0:0.1944 rs8102488;rs56638435;rs61559620;rs8102488 120;120 Q14002-2;Q14002 .;CEAM7_HUMAN I 120;99;120;120 ENSP00000006724:F120I;ENSP00000385932:F120I;ENSP00000343286:F120I ENSP00000006724:F120I F - 1 0 CEACAM7 46882699 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.387000 0.00488 -3.597000 0.00135 -3.062000 0.00068 TTC NOVEL CEACAM7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321145.1 2 4.948328 KEEP 0 1 27 26 830 AA 0.999988 0.999988 0 - 8 60 295 0 0 17.71628 259 60 9322 350 ENST00000006724.3 0.029963 1 CEACAM6 4680 __UNKNOWN__ __UNKNOWN__ 19 42260569 42260569 __UNKNOWN__ Silent SNP G G A rs1805223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:42260569G>A ENST00000199764.6 + 2 344 c.126G>A c.(124-126)ccG>ccA p.P42P CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 42 Ig-like V-type. NA cell-cell signaling (GO:0007267)|signal transduction (GO:0007165) anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) p.P42P(1) breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AATCCACGCCGTTCAATGTCG 0.527 NA g||| 1280 0.255591 0.1399 0.2911 5008 , , NA 18831 0.2738 NA 0.2873 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G 745,3661 305.5+/-289.0 63,619,1521 170 156 161 126 -5.1 0 19 dbSNP_92 161 2502,6098 410.2+/-350.1 384,1734,2182 no coding-synonymous CEACAM6 NM_002483.4 447,2353,3703 AA,AG,GG 29.093,16.9088,24.9654 42/345 42260569 3247,9759 2203 4300 6503 SO:0001819 synonymous_variant M29541 CCDS12585.1 19q13.1-q13.2 2013-01-29 ENSG00000086548 ENSG00000086548 4680 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 1818 protein-coding gene gene with protein product 163980 NCA NA Standard NM_002483 NA Approved CD66c uc002orm.2 P40199 OTTHUMG00000151064 ENST00000199764.6:c.126G>A chr19.hg19:g.42260569G>A NA Q13774|Q14920|Q53XP7 hg19 CCDS12585.1 0.02 10.538991 GCCxTTC COVERED NOVEL CEACAM6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321147.1 2 5.051057 KEEP 0 1 32 28 959 GG 0.999997 0.999997 0 + 9 60 311 0 0 18.565797 242 60 8471 345 ENST00000199764.6 0.035857 1 GRIK5 2901 __UNKNOWN__ __UNKNOWN__ 19 42558629 42558629 __UNKNOWN__ Intron SNP G G A rs3736109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:42558629G>A ENST00000262895.3 - 8 903 GRIK5_ENST00000301218.4_Intron|GRIK5_ENST00000593562.1_Intron NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 NA NA cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249) cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) TGACAGCTGCGGTGGGACAGA 0.632 NA G||| 447 0.0892572 0.0098 0.1182 5008 , , NA 19067 0.0962 NA 0.1024 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 G 100,4306 2,96,2105 36 32 33 1.2 0 19 dbSNP_107 33 982,7618 56,870,3374 no intron GRIK5 NM_002088.3 58,966,5479 AA,AG,GG 11.4186,2.2696,8.3192 42558629 1082,11924 2203 4300 6503 SO:0001627 intron_variant CCDS12595.1 19q13.2 2012-08-29 ENSG00000105737 ENSG00000105737 2901 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4583 protein-coding gene gene with protein product 600283 GRIK2 NA 7527545 Standard NM_002088 NA Approved GluK5, KA2 uc002osj.2 Q16478 OTTHUMG00000044573 ENST00000262895.3:c.904-5C>T chr19.hg19:g.42558629G>A NA Q8WWG8 hg19 CCDS12595.1 0.02 8.569816 TGCxGTG COVERED NOVEL GRIK5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463453.1 1 9.328366 KEEP 0 0 0 31 1055 GG 0.999997 0.999997 0 - 7 60 257 0 0 15.493223 219 60 7817 303 ENST00000262895.3 0.030973 1 MEGF8 1954 __UNKNOWN__ __UNKNOWN__ 19 42880120 42880120 __UNKNOWN__ Silent SNP C C T rs3745237 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:42880120C>T ENST00000334370.4 + 41 8165 c.7530C>T c.(7528-7530)taC>taT p.Y2510Y MEGF8_ENST00000251268.6_Silent_p.Y2577Y|MEGF8_ENST00000378073.4_Silent_p.Y171Y NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2577 NA BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|receptor activity (GO:0004872) breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGATTACCTACGTGACGGTGA 0.711 NA C||| 52 0.0103834 0.0 0.0 5008 , , NA 13420 0.0486 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 31 34 33 NA NA 19 NA 42880120 2191 4284 6475 SO:0001819 synonymous_variant AB011541 CCDS12604.2, CCDS62693.1 19q13.2 2011-11-24 2006-03-31 2006-03-31 ENSG00000105429 ENSG00000105429 1954 3233 protein-coding gene gene with protein product HBV pre s2 binding protein 1 604267 EGF-like-domain, multiple 4, chromosome 19 open reading frame 49 EGFL4, C19orf49 NA 9693030 Standard NM_001410 NM_001410 NA Approved SBP1, FLJ22365 uc002otm.5 Q7Z7M0 OTTHUMG00000150342 ENST00000334370.4:c.7530C>T chr19.hg19:g.42880120C>T NA A8KAY0|O75097 hg19 CCDS12604.2 0.02 17.264483 CTAxGTG COVERED NOVEL MEGF8-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000317695.1 2 22.306257 KEEP 0 1 31 85 2958 CC 1 1 0 + 12 60 444 0 0 26.157981 434 60 15620 661 ENST00000334370.4 0.026906 1 PSG8 440533 __UNKNOWN__ __UNKNOWN__ 19 43257015 43257015 __UNKNOWN__ 3'UTR SNP G G A rs7246152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43257015G>A ENST00000404209.4 - 0 1853 PSG8_ENST00000401467.2_3'UTR|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_3'UTR NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 NA NA extracellular region (GO:0005576) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GCAAACACACGGGCAATATCT 0.423 NA .||| 841 0.167931 0.4206 0.1282 5008 , , NA 21580 0.0367 NA 0.0666 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M74106 CCDS33037.1, CCDS46090.1, CCDS46091.1 19q13.2 2013-01-29 ENSG00000124467 ENSG00000124467 440533 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9525 protein-coding gene gene with protein product 176397 NA 1672663, 1572651 Standard NM_182707 NA Approved uc002ouo.2 Q9UQ74 OTTHUMG00000151118 ENST00000404209.4:c.*497C>T chr19.hg19:g.43257015G>A NA A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6 hg19 CCDS46091.1 0.02 7.136202 CACxGGC COVERED NOVEL PSG8-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000321407.3 1 3.310267 KEEP 0 0 0 11 360 GG 0.993072 0.993072 0 - 9 60 344 0 0 23.316344 165 60 5967 203 ENST00000404209.4 0.051724 1 PSG8 440533 __UNKNOWN__ __UNKNOWN__ 19 43341434 43341434 __UNKNOWN__ Intron SNP G G A rs10413259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43341434G>A ENST00000401467.2 - 1 136 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 NA NA extracellular region (GO:0005576) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) gtatcagcctgttcattaaaa 0.299 NA .||| 1134 0.226438 0.1536 0.1715 5008 , , NA 15162 0.3909 NA 0.0924 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74106 CCDS33037.1, CCDS46090.1, CCDS46091.1 19q13.2 2013-01-29 ENSG00000124467 ENSG00000124467 440533 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9525 protein-coding gene gene with protein product 176397 NA 1672663, 1572651 Standard NM_182707 NA Approved uc002ouo.2 Q9UQ74 OTTHUMG00000151118 ENST00000401467.2:c.64+18273C>T chr19.hg19:g.43341434G>A NA A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6 hg19 0.02 2.173448 CCTxTTC COVERED NOVEL PSG8-009 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000464525.1 0 2.407719 KEEP 0 0 0 8 272 GG 0.99257 0.989319 0 - 4 60 147 0 0 9.951643 66 60 2560 86 ENST00000401467.2 0.057143 0.996724 PSG8 440533 __UNKNOWN__ __UNKNOWN__ 19 43348671 43348671 __UNKNOWN__ Intron SNP C C T rs60871160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43348671C>T ENST00000401467.2 - 1 136 PSG10P_ENST00000597171.1_RNA Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 NA NA extracellular region (GO:0005576) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) AGTACTATGCCGGTGGGTTAC 0.448 NA .||| 109 0.0217652 0.0 0.0 5008 , , NA 21582 0.1042 NA 0.001 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M74106 CCDS33037.1, CCDS46090.1, CCDS46091.1 19q13.2 2013-01-29 ENSG00000124467 ENSG00000124467 440533 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9525 protein-coding gene gene with protein product 176397 NA 1672663, 1572651 Standard NM_182707 NA Approved uc002ouo.2 Q9UQ74 OTTHUMG00000151118 ENST00000401467.2:c.64+11036G>A chr19.hg19:g.43348671C>T NA A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6 hg19 0.02 7.286586 TGCxGGT COVERED NOVEL PSG8-009 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000464525.1 2 4.514344 KEEP 0 0 0 15 512 CC 0.99649 0.99649 0 - 12 60 463 0 0 32.563115 179 60 6276 247 ENST00000401467.2 0.062827 1 PSG11 5680 __UNKNOWN__ __UNKNOWN__ 19 43518462 43518462 __UNKNOWN__ Intron SNP C C T rs565363188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43518462C>T ENST00000401740.1 - 4 1068 PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 11 NA NA female pregnancy (GO:0007565) extracellular region (GO:0005576) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TTTGGCACTGCCCCTTTCCTG 0.453 NA .||| 2 0.000399361 0.0 0.0 5008 , , NA 18034 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U25988 CCDS12614.2, CCDS12615.2 19q13.2 2013-01-29 ENSG00000243130 ENSG00000243130 5680 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9516 protein-coding gene gene with protein product pregnancy specific beta-1-glycoprotein 13 176401 PSG13, PSG14 NA 7794280 Standard NM_002785 NM_001113410 NA Approved MGC22484 uc002ovm.1 Q9UQ72 OTTHUMG00000151546 ENST00000401740.1:c.964+805G>A chr19.hg19:g.43518462C>T NA B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 hg19 CCDS12614.2 0.02 6.258269 CTGxCCC COVERED NOVEL PSG11-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323079.1 1 4.815863 KEEP 0 0 0 16 578 CC 0.997832 0.997832 0 - 12 60 438 0 0 30.324092 170 60 6362 257 ENST00000401740.1 0.065934 1 PSG11 5680 __UNKNOWN__ __UNKNOWN__ 19 43528932 43528932 __UNKNOWN__ Missense_Mutation SNP C C T rs111739483 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43528932C>T ENST00000401740.1 - 2 444 c.341G>A c.(340-342)cGg>cAg p.R114Q PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.R114Q Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 11 114 Ig-like V-type. NA female pregnancy (GO:0007565) extracellular region (GO:0005576) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TGCGTCCTCCCGGGTGACATT 0.443 NA .||| 228 0.0455272 0.0605 0.0058 5008 , , NA 20906 0.0883 NA 0.0 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 C ,GLN/ARG, 166,4230 15,136,2047 157 153 154 ,341, -1.9 0 19 dbSNP_132 154 16,8574 0,16,4279 no intron,missense,intron PSG11 NM_001113410.1,NM_002785.2,NM_203287.1 ,43, 15,152,6326 TT,TC,CC 0.1863,3.7762,1.4015 ,, ,114/336, 43528932 182,12804 2198 4295 6493 SO:0001583 missense U25988 CCDS12614.2, CCDS12615.2 19q13.2 2013-01-29 ENSG00000243130 ENSG00000243130 5680 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9516 protein-coding gene gene with protein product pregnancy specific beta-1-glycoprotein 13 176401 PSG13, PSG14 NA 7794280 Standard NM_002785 NM_001113410 NA Approved MGC22484 uc002ovm.1 Q9UQ72 OTTHUMG00000151546 ENST00000401740.1:c.341G>A chr19.hg19:g.43528932C>T ENSP00000384995:p.Arg114Gln NA B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 hg19 CCDS12614.2 0.02 4.694691 TCCxGGG UNCOVERED 79 0.036172161172161175 28 0.056910569105691054 1 0.0027624309392265192 50 0.08741258741258741 0 0.0 t 0.021 -1.424426 0.01126 0.037762 0.001863 ENSG00000243130 ENST00000320078;ENST00000401740 T;T 0.65732 -0.17;-0.17 0.929 -1.86 0.07760 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1); . . . . T 0.00967 0.0032 N 0.03983 -0.305 0.09310 N 1 B 0.06786 0.001 B 0.12837 0.008 T 0.03202 -1.1061 9 0.07990 T 0.79 . 1.4589 0.02391 0.3155:0.2605:0.0:0.424 . 114 Q9UQ72 PSG11_HUMAN Q 114 ENSP00000319140:R114Q;ENSP00000384995:R114Q ENSP00000319140:R114Q R - 2 0 PSG11 48220772 0.000000 0.05858 0.024000 0.17045 0.008000 0.06430 -2.383000 0.01063 -1.324000 0.02272 -1.109000 0.02080 CGG NOVEL PSG11-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323079.1 0 3.3104 KEEP 33 0 0 11 365 CC 0 0 0 - 8 60 304 0 0 20.75577 138 60 4755 216 ENST00000401740.1 0.054795 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 43540021 43540021 __UNKNOWN__ IGR SNP G G C rs146737711 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43540021G>C NA NA PSG11 (9357 upstream) : PSG2 (28341 downstream) NA NA NA ACCAGGGCTGGTAGATCAGAG 0.502 NA .||| 713 0.142372 0.2738 0.0994 5008 , , NA 21413 0.1062 NA 0.0626 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.43540021G>C NA hg19 0.02 2.367886 CTGxTAG COVERED NOVEL 0 0 3.611899 KEEP 6 0 0 12 435 GG 0.993634 0.993044 0 10 40 377 0 0 29.500005 68 60 2530 134 0.128205 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 43566442 43566442 __UNKNOWN__ IGR SNP T T C rs9797890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43566442T>C NA NA PSG11 (35778 upstream) : PSG2 (1920 downstream) NA NA NA gagcatttcatcttttattct 0.448 NA T||| 1164 0.232428 0.1793 0.1571 5008 , , NA 20224 0.4871 NA 0.169 False NA ,,, NA NA NA 2504 0.1605 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.43566442T>C NA hg19 0.02 -0.307069 TCAxCTT COVERED NOVEL 0 3 3.310088 KEEP 0 0 0 11 345 TT 0.993072 0.794702 0 3 60 118 0 0 8.785626 32 60 1207 55 0.085714 0.800245 PSG2 5670 __UNKNOWN__ __UNKNOWN__ 19 43570771 43570771 __UNKNOWN__ Intron SNP T T A rs111242195 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43570771T>A ENST00000406487.1 - 5 1063 NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 NA NA cell migration (GO:0016477)|female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GAAAGAAAAGTAAAGAAGGAA 0.388 NA t||| 182 0.0363419 0.0295 0.0029 5008 , , NA 21351 0.0853 NA 0.0 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 A 139,4263 8,123,2070 124 122 123 -0.2 0 19 dbSNP_132 123 17,8579 0,17,4281 no intron PSG2 NM_031246.3 8,140,6351 AA,AT,TT 0.1978,3.1577,1.2002 43570771 156,12842 2201 4298 6499 SO:0001627 intron_variant CCDS12616.1 19q13.1-q13.2 2013-01-29 ENSG00000242221 ENSG00000242221 5670 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9519 protein-coding gene gene with protein product pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta-1-glycoprotein 7, carcinoembryonic antigen SG8 176391 PSBG2 NA 2377620 Standard NM_031246 NM_031246 NA Approved PSGGB, PSG1, CEA uc002ovr.3 P11465 OTTHUMG00000151547 ENST00000406487.1:c.965-19A>T chr19.hg19:g.43570771T>A NA Q8TCD9|Q9UEA4|Q9UQ78 hg19 CCDS12616.1 0.02 19.355142 AAGxAAA COVERED NOVEL PSG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323083.1 1 7.823626 KEEP 0 0 0 26 817 TT 0.999957 0.999957 0 - 14 60 492 0 0 28.789368 469 60 16740 605 ENST00000406487.1 0.028986 1 PSG2 5670 __UNKNOWN__ __UNKNOWN__ 19 43579679 43579679 __UNKNOWN__ Missense_Mutation SNP T T A rs1058086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43579679T>A ENST00000406487.1 - 3 634 c.536A>T c.(535-537)cAg>cTg p.Q179L NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 179 Ig-like C2-type 1. NA Q -> L (in dbSNP:rs1058086). cell migration (GO:0016477)|female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) CATCCACCACTGGTAGCTTGT 0.502 NA T||| 609 0.121605 0.056 0.2017 5008 , , NA 19263 0.0893 NA 0.1103 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 T LEU/GLN 303,4101 21,261,1920 245 247 246 536 -2.7 0 19 dbSNP_86 246 964,7630 57,850,3390 no missense PSG2 NM_031246.3 113 78,1111,5310 AA,AT,TT 11.2171,6.8801,9.7477 179/336 43579679 1267,11731 2202 4297 6499 SO:0001583 missense CCDS12616.1 19q13.1-q13.2 2013-01-29 ENSG00000242221 ENSG00000242221 5670 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9519 protein-coding gene gene with protein product pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta-1-glycoprotein 7, carcinoembryonic antigen SG8 176391 PSBG2 NA 2377620 Standard NM_031246 NM_031246 NA Approved PSGGB, PSG1, CEA uc002ovr.3 P11465 OTTHUMG00000151547 ENST00000406487.1:c.536A>T chr19.hg19:g.43579679T>A ENSP00000385706:p.Gln179Leu NA Q8TCD9|Q9UEA4|Q9UQ78 hg19 CCDS12616.1 0.02 4.053052 CACxGGT COVERED 231 0.10576923076923077 30 0.06097560975609756 61 0.1685082872928177 49 0.08566433566433566 91 0.12005277044854881 N 0 -2.587248 0.00128 0.068801 0.112171 ENSG00000242221 ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917 T 0.14516 2.5 1.33 -2.66 0.06077 Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.01076 -1.035 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.29305 -1.0016 8 0.02654 T 1 . 3.0717 0.06233 0.2961:0.4666:0.0:0.2373 rs1058086;rs3198696;rs16976416;rs57294777 179;179 B5MCM8;P11465 .;PSG2_HUMAN L 179 ENSP00000385706:Q179L ENSP00000332984:Q179L Q - 2 0 PSG2 48271519 0.001000 0.12720 0.005000 0.12908 0.005000 0.04900 -3.566000 0.00429 -1.108000 0.03000 -0.589000 0.04120 CAG NOVEL PSG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323083.1 0 3.912032 KEEP 0 0 0 13 415 TT 0.994391 0.99439 0 - 9 60 318 0 0 21.958465 119 60 4359 163 ENST00000406487.1 0.070312 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 43596095 43596095 __UNKNOWN__ IGR SNP C C G rs138187161 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43596095C>G NA NA PSG2 (9275 upstream) : AC005392.13 (61335 downstream) NA NA NA ACCAGGGCTGCTAGATCAGAG 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.43596095C>G NA hg19 0.02 6.918689 CTGxTAG COVERED NOVEL 0 2 9.63173 KEEP 3 0 0 32 1161 CC 0.999997 0.999997 0 7 60 253 0 0 16.158777 154 60 5934 271 0.043478 1 PSG5 5673 __UNKNOWN__ __UNKNOWN__ 19 43678313 43678313 __UNKNOWN__ Intron SNP G G A rs4803581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43678313G>A ENST00000599812.1 - 5 1339 PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000404580.1_3'UTR|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000366175.3_Intron Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 NA NA female pregnancy (GO:0007565) extracellular region (GO:0005576) breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) agttagaatagccagttacat 0.333 NA G||| 1025 0.204673 0.2012 0.1571 5008 , , NA 18549 0.3829 NA 0.1292 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12617.1 19q13.2 2013-01-29 ENSG00000204941 ENSG00000204941 5673 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9522 protein-coding gene gene with protein product pregnancy-specific beta-1 glycoprotein, pregnancy-specific beta 1 glycoprotein 176394 NA 2735907 Standard NM_002781 NM_002781 NA Approved FL-NCA-3, PSG uc002ovx.3 Q15238 OTTHUMG00000151539 ENST00000599812.1:c.1243+1053C>T chr19.hg19:g.43678313G>A NA Q15239|Q96QJ1|Q9UQ75 hg19 0.02 8.134854 ATAxCCA COVERED NOVEL PSG5-010 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000463718.1 5 3.647373 KEEP 11 1 34 24 856 GG 0.999892 0.999892 0 - 7 60 255 0 0 15.25097 222 60 8430 316 ENST00000599812.1 0.030568 1 PSG4 5672 __UNKNOWN__ __UNKNOWN__ 19 43702184 43702184 __UNKNOWN__ Missense_Mutation SNP G G A rs139058318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43702184G>A ENST00000405312.3 - 3 911 c.674C>T c.(673-675)gCc>gTc p.A225V PSG4_ENST00000244295.9_Missense_Mutation_p.A225V|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 225 Ig-like C2-type 1. NA female pregnancy (GO:0007565) extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) ACTGCGGCTGGCACTCACTGG 0.517 NA G||| 121 0.0241613 0.0 0.0014 5008 , , NA 16209 0.1141 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 G VAL/ALA,VAL/ALA 0,4238 0,0,2119 57 70 66 674,674 -3.2 0 19 dbSNP_134 66 5,8519 0,5,4257 no missense,missense PSG4 NM_002780.3,NM_213633.1 64,64 0,5,6376 AA,AG,GG 0.0587,0.0,0.0392 , 225/420,225/327 43702184 5,12757 2119 4262 6381 SO:0001583 missense CCDS33039.1, CCDS46093.1, CCDS62695.1 19q13.2 2013-01-29 ENSG00000243137 ENSG00000243137 5672 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9521 protein-coding gene gene with protein product pregnancy-specific beta-1-glycoprotein 4 176393 NA 2783133 Standard NM_213633 NM_002780 NA Approved uc002ovy.4 Q00888 OTTHUMG00000151544 ENST00000405312.3:c.674C>T chr19.hg19:g.43702184G>A ENSP00000384770:p.Ala225Val NA E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76 hg19 CCDS46093.1 0.02 5.861255 CTGxCAC COVERED 53 0.024267399267399268 0 0.0 0 0.0 53 0.09265734265734266 0 0.0 g 10.29 1.309036 0.23821 0.0 5.87E-4 ENSG00000243137 ENST00000244295;ENST00000405312;ENST00000451895 T;T;T 0.12039 2.72;2.72;2.72 1.96 -3.17 0.05202 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.00695 0.0023 L 0.45228 1.405 0.80722 P 0.0 D;D;P 0.54601 0.967;0.96;0.877 D;D;P 0.66497 0.944;0.932;0.656 T 0.09335 -1.0679 8 0.33940 T 0.23 . 6.2158 0.20653 0.6917:0.0:0.3083:0.0 . 241;225;225 C9JWP2;Q00888-2;Q00888 .;.;PSG4_HUMAN V 225;225;241 ENSP00000244295:A225V;ENSP00000384770:A225V;ENSP00000388134:A241V ENSP00000244295:A225V A - 2 0 PSG4 48394024 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -0.211000 0.09332 -0.697000 0.05092 0.416000 0.27883 GCC NOVEL PSG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323073.1 1 5.718743 KEEP 1 0 0 19 681 GG 0.99986 0.99986 0 - 6 49 214 0 0 12.804761 177 50 6593 259 ENST00000405312.3 0.032787 1 PSG4 5672 __UNKNOWN__ __UNKNOWN__ 19 43709815 43709815 __UNKNOWN__ 5'UTR SNP T T C rs62116515 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43709815T>C ENST00000405312.3 - 0 111 PSG4_ENST00000433626.2_5'UTR NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 NA NA female pregnancy (GO:0007565) extracellular vesicular exosome (GO:0070062) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GGCAGGAGCATTTCTCAAGCT 0.577 NA t||| 3610 0.720847 0.7867 0.5519 5008 , , NA 13566 0.875 NA 0.5944 False NA ,,, NA NA NA 2504 0.7229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS33039.1, CCDS46093.1, CCDS62695.1 19q13.2 2013-01-29 ENSG00000243137 ENSG00000243137 5672 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9521 protein-coding gene gene with protein product pregnancy-specific beta-1-glycoprotein 4 176393 NA 2783133 Standard NM_213633 NM_002780 NA Approved uc002ovy.4 Q00888 OTTHUMG00000151544 ENST00000405312.3:c.-127A>G chr19.hg19:g.43709815T>C NA E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76 hg19 CCDS46093.1 0.02 6.945141 GCAxTTC COVERED NOVEL PSG4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000323073.1 1 3.008987 KEEP 0 0 0 10 313 TT 0.992708 0.992708 0 - 6 60 228 0 0 14.348062 167 60 5960 213 ENST00000405312.3 0.034682 1 PSG9 5678 __UNKNOWN__ __UNKNOWN__ 19 43716538 43716538 __UNKNOWN__ 3'UTR SNP A A G rs4444436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43716538A>G ENST00000418820.2 - 0 1152 CEACAMP10_ENST00000489959.1_RNA Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 NA NA female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) cgcttataggacttctggaac 0.448 NA a||| 3602 0.719249 0.7738 0.5476 5008 , , NA 13887 0.8879 NA 0.5994 False NA ,,, NA NA NA 2504 0.7168 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M34481 CCDS12618.1 19q13.2 2013-01-29 ENSG00000183668 ENSG00000183668 5678 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9526 protein-coding gene gene with protein product 176398 PSG11 NA 7806221 Standard NM_002784 XM_005259076 NA Approved PSGII uc002owd.4 Q00887 OTTHUMG00000182826 ENST00000418820.2:c.*73T>C chr19.hg19:g.43716538A>G NA B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 hg19 0.02 6.132328 AGGxCTT COVERED NOVEL PSG9-011 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000463916.1 1 5.413532 KEEP 1 0 0 18 524 AA 0.999859 0.999859 0 - 6 49 221 0 0 13.456824 180 60 6392 225 ENST00000418820.2 0.032258 1 PSG9 5678 __UNKNOWN__ __UNKNOWN__ 19 43716621 43716621 __UNKNOWN__ Missense_Mutation SNP A A G rs4550580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43716621A>G ENST00000418820.2 - 5 1069 c.971T>C c.(970-972)aTa>aCa p.I324T CEACAMP10_ENST00000489959.1_RNA Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 2. NA female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) tcagggtaatatccagtctac 0.393 NA a||| 3600 0.71885 0.7731 0.5476 5008 , , NA 12686 0.8879 NA 0.5994 False NA ,,, NA NA NA 2504 0.7157 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense M34481 CCDS12618.1 19q13.2 2013-01-29 ENSG00000183668 ENSG00000183668 5678 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9526 protein-coding gene gene with protein product 176398 PSG11 NA 7806221 Standard NM_002784 XM_005259076 NA Approved PSGII uc002owd.4 Q00887 OTTHUMG00000182826 ENST00000418820.2:c.971T>C chr19.hg19:g.43716621A>G ENSP00000400484:p.Ile324Thr NA B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 hg19 0.02 5.956095 AATxTCC COVERED NOVEL PSG9-011 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000463916.1 0 7.520499 KEEP 1 0 0 25 754 AA 0.999931 0.999931 0 - 6 40 215 0 0 13.066053 166 60 6020 246 ENST00000418820.2 0.034884 1 PSG9 5678 __UNKNOWN__ __UNKNOWN__ 19 43716636 43716636 __UNKNOWN__ Intron SNP A A G rs4550581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43716636A>G ENST00000418820.2 - 5 1063 CEACAMP10_ENST00000489959.1_RNA Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 NA NA female pregnancy (GO:0007565) extracellular region (GO:0005576) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) gtctacaggtagataataaaa 0.388 NA a||| 3596 0.718051 0.7716 0.5476 5008 , , NA 12198 0.8879 NA 0.5984 False NA ,,, NA NA NA 2504 0.7147 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M34481 CCDS12618.1 19q13.2 2013-01-29 ENSG00000183668 ENSG00000183668 5678 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9526 protein-coding gene gene with protein product 176398 PSG11 NA 7806221 Standard NM_002784 XM_005259076 NA Approved PSGII uc002owd.4 Q00887 OTTHUMG00000182826 ENST00000418820.2:c.965-9T>C chr19.hg19:g.43716636A>G NA B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73 hg19 0.02 6.187852 GGTxGAT COVERED NOVEL PSG9-011 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000463916.1 0 6.919524 KEEP 1 0 0 23 707 AA 0.999892 0.999892 0 - 6 40 213 1 0 13.109222 151 60 5495 219 ENST00000418820.2 0.038217 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 43783150 43783150 __UNKNOWN__ IGR SNP G G A rs201443629 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43783150G>A NA NA PSG9 (9468 upstream) : CTC-490G23.2 (50296 downstream) NA NA NA AAGGCCAGGAGAACTTCCTTG 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.43783150G>A NA hg19 0.02 4.196653 GGAxAAC COVERED NOVEL 0 0 5.116701 KEEP 2 0 0 17 602 GG 0.999366 0.999366 0 5 25 178 0 0 11.145308 116 60 4358 163 0.041322 0.999999 CD177 57126 __UNKNOWN__ __UNKNOWN__ 19 43864548 43864548 __UNKNOWN__ RNA SNP C C A rs10425835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43864548C>A ENST00000607517.1 + 0 807 CD177_ENST00000378009.4_RNA Q8N6Q3 CD177_HUMAN CD177 molecule NA NA blood coagulation (GO:0007596)|leukocyte migration (GO:0050900) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GCTGCTGCTCCTAGATGTAGG 0.547 NA G||| 2207 0.440695 0.5817 0.4841 5008 , , NA 18538 0.4196 NA 0.3986 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 G ILE/LEU 2089,1947 544,1001,473 36 42 40 751 -0.3 0.2 19 dbSNP_119 40 3283,5077 648,1987,1545 no missense CD177 NM_020406.2 5 1192,2988,2018 AA,AC,CC 39.2703,48.2408,43.3366 benign 251/438 43864548 5372,7024 2018 4180 6198 AF146747 CCDS62700.1 19q13.31 2013-10-02 2006-03-28 ENSG00000204936 ENSG00000204936 57126 CD molecules 30072 protein-coding gene gene with protein product polycythemia rubra vera 1 162860 CD177 antigen NA 10753836, 5552408 Standard NM_020406 NM_020406 NA Approved PRV1, HNA2A, NB1 uc002owi.3 Q8N6Q3 OTTHUMG00000185320 ENST00000607517.1: chr19.hg19:g.43864548C>A NA Q711Q2|Q8NCV9|Q96QH1|Q9HDA5 hg19 0.02 8.924184 CTCxTAG COVERED NOVEL CD177-001 KNOWN basic polymorphic_pseudogene NA polymorphic_pseudogene OTTHUMT00000470162.1 0 4.815705 KEEP 0 0 0 16 575 CC 0.997832 0.997832 0 + 18 60 671 0 0 48.310049 211 60 7990 264 ENST00000607517.1 0.078603 1 CTC-490G23.4 0 __UNKNOWN__ __UNKNOWN__ 19 43866617 43866617 __UNKNOWN__ RNA SNP C C T rs36081957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43866617C>T ENST00000607109.1 - 0 300 CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA NA NA NA TTCATATCTACTCACCTAACA 0.502 NA -||| 988 0.197284 0.2073 0.2435 5008 , , NA 20357 0.2351 NA 0.2078 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000607109.1: chr19.hg19:g.43866617C>T NA hg19 0.02 7.613149 CTAxTCA COVERED NOVEL CTC-490G23.4-001 KNOWN basic antisense NA antisense OTTHUMT00000470165.1 1 4.514798 KEEP 0 0 0 15 543 CC 0.99649 0.99649 0 - 8 60 281 0 0 16.63674 236 60 8790 272 ENST00000607109.1 0.032787 1 TEX101 83639 __UNKNOWN__ __UNKNOWN__ 19 43922061 43922061 __UNKNOWN__ Silent SNP A A G rs3816438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43922061A>G ENST00000602198.1 + 7 919 c.477A>G c.(475-477)ccA>ccG p.P159P TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.P159P|TEX101_ENST00000598265.1_Silent_p.P141P NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 141 UPAR/Ly6. NA acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TCCATTGTCCAACCTGTGTGG 0.512 NA A||| 1440 0.28754 0.0287 0.2839 5008 , , NA 21738 0.6091 NA 0.2366 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 A , 257,4149 146.1+/-180.8 5,247,1951 325 268 287 423,477 1.5 1 19 dbSNP_107 287 1964,6636 345.5+/-325.8 253,1458,2589 no coding-synonymous,coding-synonymous TEX101 NM_001130011.1,NM_031451.4 , 258,1705,4540 GG,GA,AA 22.8372,5.833,17.0767 , 141/250,159/268 43922061 2221,10785 2203 4300 6503 SO:0001819 synonymous_variant AF241268 CCDS12619.1, CCDS59393.1 19q13.31 2013-06-06 2007-03-13 ENSG00000131126 83639 30722 protein-coding gene gene with protein product cancer/testis antigen 131, spermatogenesis associated 44 612665 testis expressed sequence 101 NA 16388701, 16516155 Standard NM_031451 NM_031451 NA Approved MGC4766, SGRG, CT131, SPATA44 uc010xwo.2 Q9BY14 ENST00000602198.1:c.477A>G chr19.hg19:g.43922061A>G NA Q7L5R2|Q9BPY7 hg19 CCDS12619.1 0.02 3.648109 TCCxACC COVERED NOVEL TEX101-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463173.1 0 5.416141 KEEP 0 0 0 18 557 AA 0.999859 0.999846 0 + 7 60 223 0 0 14.451287 99 60 3641 137 ENST00000602198.1 0.066038 0.999987 TEX101 83639 __UNKNOWN__ __UNKNOWN__ 19 43922300 43922300 __UNKNOWN__ Intron SNP G G A rs2278834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43922300G>A ENST00000602198.1 + 8 1016 TEX101_ENST00000601707.1_Intron|TEX101_ENST00000253435.7_Intron|TEX101_ENST00000598265.1_Intron NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 NA NA acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TGTCTCTCCCGATCCTTCCTT 0.512 NA c||| 1443 0.288139 0.034 0.2824 5008 , , NA 20291 0.6091 NA 0.2346 False NA ,,, NA NA NA 2504 0.3599 NA NA NA NA 0 C , 272,4134 6,260,1937 77 75 75 , -2.2 0 19 dbSNP_100 75 1947,6653 249,1449,2602 no intron,intron TEX101 NM_001130011.1,NM_031451.4 , 255,1709,4539 AA,AG,GG 22.6395,6.1734,17.0614 , , 43922300 2219,10787 2203 4300 6503 SO:0001627 intron_variant AF241268 CCDS12619.1, CCDS59393.1 19q13.31 2013-06-06 2007-03-13 ENSG00000131126 83639 30722 protein-coding gene gene with protein product cancer/testis antigen 131, spermatogenesis associated 44 612665 testis expressed sequence 101 NA 16388701, 16516155 Standard NM_031451 NM_031451 NA Approved MGC4766, SGRG, CT131, SPATA44 uc010xwo.2 Q9BY14 ENST00000602198.1:c.575-20G>A chr19.hg19:g.43922300G>A NA Q7L5R2|Q9BPY7 hg19 CCDS12619.1 0.02 6.603787 CCCxATC COVERED NOVEL TEX101-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463173.1 3 3.009255 KEEP 0 0 0 10 330 GG 0.992708 0.992708 0 + 13 60 475 0 0 34.311889 142 60 4914 183 ENST00000602198.1 0.083871 1 PHLDB3 653583 __UNKNOWN__ __UNKNOWN__ 19 43979589 43979589 __UNKNOWN__ Silent SNP G G T rs1055099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:43979589G>T ENST00000292140.5 - 16 2256 c.1896C>A c.(1894-1896)acC>acA p.T632T NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 632 PH. {ECO:0000255|PROSITE- ProRule:PRU00145}. NA enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) CGTCAGCGGCGGTCACGATGA 0.672 NA T||| 2800 0.559105 0.6316 0.5086 5008 , , NA 15307 0.6944 NA 0.4165 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 T 2074,1704 585,904,400 34 41 39 1896 -8.7 0 19 dbSNP_86 39 3402,4826 703,1996,1415 no coding-synonymous PHLDB3 NM_198850.3 1288,2900,1815 TT,TG,GG 41.3466,45.1032,45.6105 632/641 43979589 5476,6530 1889 4114 6003 SO:0001819 synonymous_variant CCDS12621.2 19q13.31 2013-01-10 ENSG00000176531 ENSG00000176531 653583 Pleckstrin homology (PH) domain containing 30499 protein-coding gene gene with protein product NA Standard NM_198850 NA Approved FLJ40193 uc002own.4 Q6NSJ2 OTTHUMG00000150693 ENST00000292140.5:c.1896C>A chr19.hg19:g.43979589G>T NA Q8N7Z4 hg19 CCDS12621.2 0.02 11.859697 GGCxGTC COVERED NOVEL PHLDB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319643.2 7 62.200591 KEEP 0 2 22 215 7375 GG 1 1 0 - 23 60 882 0 0 64.147144 271 60 9492 669 ENST00000292140.5 0.078231 1 PHLDB3 653583 __UNKNOWN__ __UNKNOWN__ 19 44005804 44005804 __UNKNOWN__ Intron SNP G G A rs74404102 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44005804G>A ENST00000292140.5 - 4 895 PHLDB3_ENST00000599242.1_Intron NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 NA NA enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) GGACAACCCCGGGGCGCAGGT 0.602 NA G||| 161 0.0321486 0.0008 0.0072 5008 , , NA 14136 0.1319 NA 0.0159 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12621.2 19q13.31 2013-01-10 ENSG00000176531 ENSG00000176531 653583 Pleckstrin homology (PH) domain containing 30499 protein-coding gene gene with protein product NA Standard NM_198850 NA Approved FLJ40193 uc002own.4 Q6NSJ2 OTTHUMG00000150693 ENST00000292140.5:c.534+81C>T chr19.hg19:g.44005804G>A NA Q8N7Z4 hg19 CCDS12621.2 0.02 8.357583 CCCxGGG COVERED NOVEL PHLDB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319643.2 1 24.978918 KEEP 0 0 0 83 2801 GG 1 1 0 - 9 60 332 0 0 21.252693 207 70 7113 372 ENST00000292140.5 0.041667 1 ZNF428 126299 __UNKNOWN__ __UNKNOWN__ 19 44117682 44117682 __UNKNOWN__ Intron SNP C C T rs138622320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44117682C>T ENST00000300811.3 - 2 523 SRRM5_ENST00000417606.1_Missense_Mutation_p.A470V|SRRM5_ENST00000607544.1_Missense_Mutation_p.A470V|SRRM5_ENST00000526798.1_Missense_Mutation_p.A485V NM_182498.3 NP_872304.2 Q96B54 ZN428_HUMAN zinc finger protein 428 NA NA metal ion binding (GO:0046872) endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) CCCAACAAGGCGAGAGATCGC 0.532 NA C||| 29 0.00579073 0.0 0.0 5008 , , NA 17507 0.0258 NA 0.002 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C VAL/ALA, 0,1384 0,0,692 83 91 89 1409, -4.6 0 19 dbSNP_134 89 1,3181 0,1,1590 no missense,intron ZNF428,SRRM5 NM_001145641.1,NM_182498.3 64, 0,1,2282 TT,TC,CC 0.0314,0.0,0.0219 benign, 470/716, 44117682 1,4565 692 1591 2283 SO:0001627 intron_variant AY257197 CCDS12626.1 19q13.31 2008-05-02 2006-07-04 2006-07-04 126299 Zinc fingers, C2H2-type 20804 protein-coding gene gene with protein product chromosome 19 open reading frame 37 C19orf37 NA Standard NM_182498 NM_182498 NA Approved MGC51082, Zfp428 uc002oxa.3 Q96B54 ENST00000300811.3:c.76+698G>A chr19.hg19:g.44117682C>T NA O95054|Q6X3Y3 hg19 CCDS12626.1 0.02 16.176813 AGGxGAG COVERED 21 0.009615384615384616 0 0.0 0 0.0 19 0.033216783216783216 2 0.002638522427440633 A 10.09 1.255821 0.22965 0.0 3.14E-4 ENSG00000226763 ENST00000526798;ENST00000417606 . . . 4.08 -4.64 0.03349 . . . . . T 0.04227 0.0117 N 0.08118 0 0.09310 N 1 B 0.19445 0.036 B 0.06405 0.002 T 0.13710 -1.0499 8 0.33141 T 0.24 . 2.0281 0.03523 0.3286:0.3435:0.2159:0.112 . 470 B3KS81 SRRM5_HUMAN V 485;470 . ENSP00000414512:A470V A + 2 0 SRRM5 48809522 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.514000 0.06298 -1.270000 0.02433 -1.116000 0.02052 GCG NOVEL ZNF428-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463349.1 5 34.243208 KEEP 0 1 32 125 4337 CC 1 1 0 - 13 60 415 0 0 23.133587 389 60 13680 674 ENST00000300811.3 0.032338 1 KCNN4 3783 __UNKNOWN__ __UNKNOWN__ 19 44278779 44278779 __UNKNOWN__ Intron SNP T T G rs386809600|rs649540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44278779T>G ENST00000262888.3 - 3 651 NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 NA NA calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903) biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468) CAGCTGCCGGTAGGGGGCCAA 0.721 NA OREG0025535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 1473 0.294129 0.6354 0.2003 5008 , , NA 12153 0.2232 NA 0.1849 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 G 1352,1826 325,702,562 7 8 8 3.7 0.4 19 dbSNP_83 8 831,5207 87,657,2275 no intron KCNN4 NM_002250.2 412,1359,2837 GG,GT,TT 13.7628,42.5425,23.6871 44278779 2183,7033 1589 3019 4608 SO:0001627 intron_variant AF022797 CCDS12630.1 19q13.2 2012-07-05 ENSG00000104783 3783 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 6293 protein-coding gene gene with protein product 602754 NA 9380751, 9407042, 16382103 Standard NM_002250 NM_002250 NA Approved KCa3.1, hSK4, hKCa4, hIKCa1 uc002oxl.3 O15554 ENST00000262888.3:c.256-8A>C chr19.hg19:g.44278779T>G 922 Q53XR4 hg19 CCDS12630.1 0.02 2.080551 CGGxAGG COVERED NOVEL KCNN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463598.1 1 6.648593 KEEP 0 1 34 34 980 TT 0.999999 0.99988 0 - 5 60 196 0 0 13.552358 87 60 2884 158 ENST00000262888.3 0.054348 0.999881 KCNN4 3783 __UNKNOWN__ __UNKNOWN__ 19 44278781 44278781 __UNKNOWN__ Intron SNP G G A rs386809600|rs563995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44278781G>A ENST00000262888.3 - 3 651 NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 NA NA calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903) biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468) GCTGCCGGTAGGGGGCCAAGA 0.716 NA OREG0025535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1584 0.316294 0.6596 0.2205 5008 , , NA 12185 0.2232 NA 0.2386 False NA ,,, NA NA NA 2504 0.0961 NA NA NA NA 0 6 8 8 NA NA 19 NA 44278781 1579 3021 4600 SO:0001627 intron_variant AF022797 CCDS12630.1 19q13.2 2012-07-05 ENSG00000104783 3783 Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated 6293 protein-coding gene gene with protein product 602754 NA 9380751, 9407042, 16382103 Standard NM_002250 NM_002250 NA Approved KCa3.1, hSK4, hKCa4, hIKCa1 uc002oxl.3 O15554 ENST00000262888.3:c.256-10C>T chr19.hg19:g.44278781G>A 922 Q53XR4 hg19 CCDS12630.1 0.02 1.933302 GTAxGGG COVERED NOVEL KCNN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000463598.1 1 7.157117 KEEP 0 1 32 35 1200 GG 0.999999 0.999677 0 - 5 60 187 0 0 12.802948 81 60 2945 152 ENST00000262888.3 0.05814 0.999678 ZNF283 284349 __UNKNOWN__ __UNKNOWN__ 19 44351107 44351107 __UNKNOWN__ 5'UTR SNP G G A rs10421861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44351107G>A ENST00000588797.1 + 0 485 ZNF283_ENST00000324461.7_Silent_p.T118T Q8N7M2 ZN283_HUMAN zinc finger protein 283 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) AGTCAAAAACGTATGAGACCA 0.299 NA A||| 2238 0.446885 0.4554 0.304 5008 , , NA 15830 0.4643 NA 0.3986 False NA ,,, NA NA NA 2504 0.5685 NA NA NA NA 0 A 1538,2018 352,834,592 12 12 12 354 1 0.6 19 dbSNP_119 12 3191,4859 671,1849,1505 no coding-synonymous ZNF283 NM_181845.1 1023,2683,2097 AA,AG,GG 39.6398,43.2508,40.7462 118/680 44351107 4729,6877 1778 4025 5803 SO:0001623 5_prime_UTR_variant AK098175 CCDS46097.1, CCDS74387.1 19q13.31 2013-01-08 ENSG00000167637 ENSG00000167637 284349 Zinc fingers, C2H2-type, - 13077 protein-coding gene gene with protein product NA 12743021 Standard NM_181845 NM_181845 NA Approved uc002oxr.4 Q8N7M2 ENST00000588797.1:c.-64G>A chr19.hg19:g.44351107G>A NA B4DGZ5|B7WP04|Q6RFR9|Q86WM6 hg19 0.02 1.764114 AACxTAT COVERED NOVEL ZNF283-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000459911.1 2 6.019428 KEEP 0 0 0 20 694 GG 0.999863 0.99977 0 + 5 60 184 0 0 12.306957 89 60 2965 133 ENST00000588797.1 0.053191 0.999907 ZNF45 7596 __UNKNOWN__ __UNKNOWN__ 19 44418776 44418776 __UNKNOWN__ Missense_Mutation SNP G G A rs60068033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44418776G>A ENST00000269973.5 - 10 1902 c.812C>T c.(811-813)aCg>aTg p.T271M RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.T271M NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 271 NA gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TTTCTCTCCCGTATGAACTAT 0.433 NA G||| 415 0.0828674 0.0598 0.0634 5008 , , NA 21031 0.251 NA 0.002 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 G MET/THR 232,4174 138.4+/-174.2 10,212,1981 101 93 96 812 -0.4 0 19 dbSNP_129 96 39,8561 26.3+/-74.7 0,39,4261 no missense ZNF45 NM_003425.3 81 10,251,6242 AA,AG,GG 0.4535,5.2655,2.0837 probably-damaging 271/683 44418776 271,12735 2203 4300 6503 SO:0001583 missense M67509 CCDS12632.1 19q13.2 2013-01-08 2005-01-11 ENSG00000124459 7596 Zinc fingers, C2H2-type, - 13111 protein-coding gene gene with protein product 194554 zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide), zinc finger protein 13 ZNF13 NA 9067431 Standard NM_003425 NM_003425 NA Approved uc002oxw.2 Q02386 ENST00000269973.5:c.812C>T chr19.hg19:g.44418776G>A ENSP00000269973:p.Thr271Met NA P17016|P78472|Q9P1U9 hg19 CCDS12632.1 0.02 6.859495 CCCxTAT COVERED 196 0.08974358974358974 25 0.0508130081300813 23 0.06353591160220995 146 0.25524475524475526 2 0.002638522427440633 G 10.37 1.331346 0.24167 0.052655 0.004535 ENSG00000124459 ENST00000269973;ENST00000328762 T 0.26373 1.74 3.18 -0.356 0.12583 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 1.319890 0.05799 N 0.611880 T 0.00012 0.0000 M 0.89163 3.01 0.80722 P 0.0 B 0.27380 0.177 B 0.13407 0.009 T 0.24119 -1.0169 9 0.72032 D 0.01 7.0881 7.8992 0.29725 0.301:0.0:0.699:0.0 rs60068033;rs61731636 271 Q02386 ZNF45_HUMAN M 271 ENSP00000269973:T271M ENSP00000269973:T271M T - 2 0 ZNF45 49110616 0.031000 0.19500 0.000000 0.03702 0.079000 0.17450 1.707000 0.37888 -0.052000 0.13311 -0.369000 0.07265 ACG NOVEL ZNF45-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459919.1 3 10.533183 KEEP 0 0 0 35 1191 GG 0.999999 0.999999 0 - 11 60 396 0 0 27.457101 149 60 5206 230 ENST00000269973.5 0.06875 1 ZNF45 7596 __UNKNOWN__ __UNKNOWN__ 19 44426474 44426474 __UNKNOWN__ Intron SNP C C A rs199808112 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44426474C>A ENST00000269973.5 - 7 1059 RP11-15A1.2_ENST00000586247.1_RNA NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 NA NA gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TTTTTTTTAACGTGAAATAGC 0.413 NA C||| 409 0.0816693 0.056 0.0634 5008 , , NA 17846 0.251 NA 0.002 False NA ,,, NA NA NA 2504 0.0368 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M67509 CCDS12632.1 19q13.2 2013-01-08 2005-01-11 ENSG00000124459 7596 Zinc fingers, C2H2-type, - 13111 protein-coding gene gene with protein product 194554 zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide), zinc finger protein 13 ZNF13 NA 9067431 Standard NM_003425 NM_003425 NA Approved uc002oxw.2 Q02386 ENST00000269973.5:c.32-105G>T chr19.hg19:g.44426474C>A NA P17016|P78472|Q9P1U9 hg19 CCDS12632.1 0.02 2.32067 TAAxGTG COVERED NOVEL ZNF45-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459919.1 0 6.62031 KEEP 0 0 0 22 709 CC 0.999879 0.998574 0 - 4 60 159 0 0 11.004269 72 70 2381 114 ENST00000269973.5 0.052632 0.998696 ZNF155 7711 __UNKNOWN__ __UNKNOWN__ 19 44500701 44500701 __UNKNOWN__ Missense_Mutation SNP C C T rs58537897 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44500701C>T ENST00000407951.2 + 6 918 c.725C>T c.(724-726)cCa>cTa p.P242L ZNF155_ENST00000590615.1_Missense_Mutation_p.P231L|ZNF155_ENST00000270014.2_Missense_Mutation_p.P231L NM_001260488.1 NP_001247417 Q12901 ZN155_HUMAN zinc finger protein 155 231 NA transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GGAGAGAAACCATTCAAATGT 0.423 NA C||| 391 0.0780751 0.1293 0.0288 5008 , , NA 23619 0.1478 NA 0.0139 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NSCLC(61;554 1277 20909 42067 42312) NA 0 C LEU/PRO,LEU/PRO 486,3920 228.5+/-243.3 24,438,1741 135 132 133 692,692 2.6 0 19 dbSNP_129 133 40,8560 25.7+/-73.6 0,40,4260 yes missense,missense ZNF155 NM_003445.2,NM_198089.1 98,98 24,478,6001 TT,TC,CC 0.4651,11.0304,4.0443 probably-damaging,probably-damaging 231/539,231/539 44500701 526,12480 2203 4300 6503 SO:0001583 missense U09852 CCDS12634.1, CCDS58668.1 19q13.2-q13.32 2013-01-08 2006-08-22 ENSG00000204920 7711 Zinc fingers, C2H2-type, - 12940 protein-coding gene gene with protein product 604086 zinc finger protein 155 (pHZ-96) NA 7557990 Standard NM_003445 NM_001260486 NA Approved pHZ-96 uc010xwt.2 Q12901 ENST00000407951.2:c.725C>T chr19.hg19:g.44500701C>T ENSP00000385163:p.Pro242Leu NA A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14 hg19 CCDS58668.1 0.02 14.822001 AACxATT COVERED 162|162 0.07417582417582418|0.07417582417582418 75|75 0.1524390243902439|0.1524390243902439 9|9 0.024861878453038673|0.024861878453038673 70|70 0.12237762237762238|0.12237762237762238 8|8 0.010554089709762533|0.010554089709762533 C|C 23.6|23.6 4.433172|4.433172 0.83776|0.83776 0.110304|0.110304 0.004651|0.004651 ENSG00000204920|ENSG00000204920 ENST00000425747|ENST00000407951;ENST00000270014 .|T;T .|0.17054 .|2.3;2.3 2.59|2.59 2.59|2.59 0.31030|0.31030 .|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); .|. .|. .|. .|. T|T 0.00241|0.00241 0.0007|0.0007 M|M 0.73372|0.73372 2.23|2.23 0.24838|0.24838 P|P 0.99248656|0.99248656 .|D .|0.89917 .|1.0 .|D .|0.80764 .|0.994 T|T 0.06232|0.06232 -1.0838|-1.0838 5|8 0.02654|0.56958 T|D 1|0.05 .|. 12.2846|12.2846 0.54786|0.54786 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 rs58537897;rs61739572|rs58537897;rs61739572 .|231 .|Q12901 .|ZN155_HUMAN Y|L 105|242;231 .|ENSP00000385163:P242L;ENSP00000270014:P231L ENSP00000401576:H105Y|ENSP00000270014:P231L H|P +|+ 1|2 0|0 ZNF155|ZNF155 49192541|49192541 0.025000|0.025000 0.19082|0.19082 0.014000|0.014000 0.15608|0.15608 0.953000|0.953000 0.61014|0.61014 1.665000|1.665000 0.37449|0.37449 1.430000|1.430000 0.47334|0.47334 0.462000|0.462000 0.41574|0.41574 CAT|CCA NOVEL ZNF155-002 PUTATIVE basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000460073.1 2 19.262618 KEEP 0 0 0 64 2258 CC 1 1 0 + 15 60 554 0 0 35.009058 372 60 13688 524 ENST00000407951.2 0.03876 1 ZNF230 7773 __UNKNOWN__ __UNKNOWN__ 19 44511389 44511389 __UNKNOWN__ Intron SNP G G T rs2191566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44511389G>T ENST00000429154.2 + 2 243 ZNF230_ENST00000585632.1_Intron NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) TGTCTCTTTTGTGTTGACTTT 0.378 NA T||| 2614 0.521965 0.4781 0.3977 5008 , , NA 22115 0.2897 NA 0.7008 False NA ,,, NA NA NA 2504 0.7249 NA NA NA GBM(175;914 2069 22996 47111 52600) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U95044 CCDS33044.1 19q13.31 2013-01-08 ENSG00000159882 7773 Zinc fingers, C2H2-type, - 13024 protein-coding gene gene with protein product NA Standard NM_006300 NA Approved FDZF2 uc002oyb.1 Q9UIE0 ENST00000429154.2:c.15+144G>T chr19.hg19:g.44511389G>T NA O15322|Q504X7|Q86W84|Q9P1U6 hg19 CCDS33044.1 0.02 6.043696 TTTxTGT COVERED NOVEL ZNF230-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460456.1 0 11.738398 KEEP 0 0 0 39 1396 GG 1 1 0 + 6 60 216 0 0 13.323061 156 60 5933 239 ENST00000429154.2 0.037037 1 ZNF223 7766 __UNKNOWN__ __UNKNOWN__ 19 44535999 44535999 __UNKNOWN__ Intron SNP G G T rs7258517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44535999G>T ENST00000591793.1 + 3 345 ZNF222_ENST00000391960.3_Missense_Mutation_p.V98F|ZNF222_ENST00000187879.8_Missense_Mutation_p.V58F Q9UK11 ZN223_HUMAN zinc finger protein 223 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) GATGGAGACTGTTCCAGAAGC 0.453 NA G||| 2084 0.416134 0.1543 0.3559 5008 , , NA 20780 0.2897 NA 0.7068 False NA ,,, NA NA NA 2504 0.6442 NA NA NA NA 0 G PHE/VAL,PHE/VAL 1078,3328 391.0+/-327.9 130,818,1255 86 82 83 172,292 -3.1 0 19 dbSNP_116 83 5991,2609 687.8+/-404.2 2076,1839,385 yes missense,missense ZNF222 NM_013360.2,NM_001129996.1 50,50 2206,2657,1640 TT,TG,GG 30.3372,24.4666,45.6482 benign,benign 58/452,98/492 44535999 7069,5937 2203 4300 6503 SO:0001627 intron_variant AF187989 CCDS12635.1 19q13.2 2013-01-08 ENSG00000178386 7766 Zinc fingers, C2H2-type, - 13016 protein-coding gene gene with protein product NA Standard XM_006723365 NA Approved uc002oyf.1 Q9UK11 ENST00000591793.1:c.262+4357G>T chr19.hg19:g.44535999G>T NA Q15736|Q8TBJ3|Q9HCA9 hg19 0.02 10.132102 ACTxTTC COVERED 948 0.4340659340659341 70 0.14227642276422764 152 0.4198895027624309 183 0.31993006993006995 543 0.716358839050132 G 11.18 1.563133 0.27915 0.244666 0.696628 ENSG00000159885 ENST00000391960;ENST00000187879;ENST00000251272 T;T 0.05996 3.36;3.4 2.14 -3.06 0.05379 Krueppel-associated box (3); . . . . T 0.00012 0.0000 N 0.02802 -0.49 0.80722 P 0.0 B;B 0.20261 0.035;0.043 B;B 0.21151 0.033;0.025 T 0.19031 -1.0318 8 0.09590 T 0.72 . 4.3188 0.11007 0.2565:0.2687:0.4748:0.0 rs7258517;rs52824298;rs59933403;rs7258517 98;58 G5E9B9;Q9UK12 .;ZN222_HUMAN F 98;58;4 ENSP00000375822:V98F;ENSP00000187879:V58F ENSP00000187879:V58F V + 1 0 ZNF222 49227839 0.000000 0.05858 0.000000 0.03702 0.707000 0.40811 -3.161000 0.00577 -0.521000 0.06426 0.205000 0.17691 GTT NOVEL ZNF223-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000460467.1 7 10.267086 KEEP 0 1 28 44 1541 GG 1 1 0 + 9 60 312 0 0 18.15803 277 60 10493 378 ENST00000591793.1 0.031469 1 ZNF223 7766 __UNKNOWN__ __UNKNOWN__ 19 44570393 44570393 __UNKNOWN__ Missense_Mutation SNP C C A rs6509138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44570393C>A ENST00000591793.1 + 7 825 c.742C>A c.(742-744)Cta>Ata p.L248I ZNF223_ENST00000434772.3_Missense_Mutation_p.L138I Q9UK11 ZN223_HUMAN zinc finger protein 223 138 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TGAGGAAGGACTATCTATAAT 0.438 NA C||| 2011 0.401558 0.1483 0.3516 5008 , , NA 21914 0.2996 NA 0.659 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 C ILE/LEU 1006,3400 375.1+/-321.5 115,776,1312 110 91 97 412 -0.5 0 19 dbSNP_116 97 5558,3042 662.5+/-402.0 1798,1962,540 yes missense ZNF223 NM_013361.4 5 1913,2738,1852 AA,AC,CC 35.3721,22.8325,49.531 probably-damaging 138/483 44570393 6564,6442 2203 4300 6503 SO:0001583 missense AF187989 CCDS12635.1 19q13.2 2013-01-08 ENSG00000178386 7766 Zinc fingers, C2H2-type, - 13016 protein-coding gene gene with protein product NA Standard XM_006723365 NA Approved uc002oyf.1 Q9UK11 ENST00000591793.1:c.742C>A chr19.hg19:g.44570393C>A ENSP00000467018:p.Leu248Ile NA Q15736|Q8TBJ3|Q9HCA9 hg19 0.02 11.390796 GGAxTAT COVERED 907 0.4152930402930403 67 0.13617886178861788 148 0.4088397790055249 187 0.3269230769230769 505 0.6662269129287599 C 7.438 0.640147 0.14386 0.228325 0.646279 ENSG00000178386 ENST00000434772 T 0.04758 3.56 2.18 -0.505 0.11993 . . . . . T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 B 0.27594 0.182 B 0.22601 0.04 T 0.11567 -1.0582 8 0.37606 T 0.19 . 2.0444 0.03557 0.3153:0.4775:0.0:0.2072 rs6509138;rs16978657;rs17852035;rs52793953;rs58216538;rs6509138 138 Q9UK11 ZN223_HUMAN I 138 ENSP00000401947:L138I ENSP00000401947:L138I L + 1 2 ZNF223 49262233 . . 0.005000 0.12908 0.071000 0.16799 . . 0.221000 0.20879 0.313000 0.20887 CTA NOVEL ZNF223-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000460467.1 1 10.268656 KEEP 0 1 31 45 1637 CC 1 1 0 + 10 60 380 0 0 24.058191 269 60 10176 394 ENST00000591793.1 0.035842 1 ZNF223 7766 __UNKNOWN__ __UNKNOWN__ 19 44571154 44571154 __UNKNOWN__ Silent SNP T T C rs4433920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44571154T>C ENST00000591793.1 + 7 1586 c.1503T>C c.(1501-1503)caT>caC p.H501H ZNF223_ENST00000434772.3_Silent_p.H391H Q9UK11 ZN223_HUMAN zinc finger protein 223 391 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) ACTTGCACCATAGAGCCCACA 0.443 NA T||| 2075 0.414337 0.1498 0.3718 5008 , , NA 19736 0.3006 NA 0.6839 False NA ,,, NA NA NA 2504 0.6421 NA NA NA NA 0 T 1037,3369 382.1+/-324.3 118,801,1284 92 86 88 1173 -0.1 0 19 dbSNP_111 88 5854,2746 680.3+/-403.6 1995,1864,441 no coding-synonymous ZNF223 NM_013361.4 2113,2665,1725 CC,CT,TT 31.9302,23.5361,47.0168 391/483 44571154 6891,6115 2203 4300 6503 SO:0001819 synonymous_variant AF187989 CCDS12635.1 19q13.2 2013-01-08 ENSG00000178386 7766 Zinc fingers, C2H2-type, - 13016 protein-coding gene gene with protein product NA Standard XM_006723365 NA Approved uc002oyf.1 Q9UK11 ENST00000591793.1:c.1503T>C chr19.hg19:g.44571154T>C NA Q15736|Q8TBJ3|Q9HCA9 hg19 0.02 14.418098 CCAxAGA COVERED NOVEL ZNF223-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000460467.1 4 12.596974 KEEP 0 2 66 65 2003 TT 1 1 0 + 11 60 394 0 0 22.802623 388 60 14037 558 ENST00000591793.1 0.027569 1 ZNF284 342909 __UNKNOWN__ __UNKNOWN__ 19 44590558 44590558 __UNKNOWN__ Silent SNP C C T rs7255701 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:44590558C>T ENST00000421176.3 + 5 1143 c.927C>T c.(925-927)caC>caT p.H309H ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 309 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) CCATGGTCCACATGCAAGAGA 0.368 NA C||| 2180 0.435304 0.2436 0.3631 5008 , , NA 22949 0.2986 NA 0.665 False NA ,,, NA NA NA 2504 0.6503 NA NA NA NA 0 C 1433,2825 277,879,973 83 85 84 927 0.4 0 19 dbSNP_116 84 5572,2966 1827,1918,524 no coding-synonymous ZNF284 NM_001037813.2 2104,2797,1497 TT,TC,CC 34.7388,33.6543,45.2563 309/594 44590558 7005,5791 2129 4269 6398 SO:0001819 synonymous_variant AY166789 CCDS46099.1 19q13.32 2013-01-08 ENSG00000186026 342909 Zinc fingers, C2H2-type, - 13078 protein-coding gene gene with protein product NA 12743021 Standard NM_001037813 NM_001037813 NA Approved DKFZp781F1775 uc002oyg.1 Q2VY69 ENST00000421176.3:c.927C>T chr19.hg19:g.44590558C>T NA Q86WM1 hg19 CCDS46099.1 0.02 14.430938 CCAxATG COVERED NOVEL ZNF284-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000460473.1 7 5.85435 KEEP 0 1 33 31 1087 CC 0.999997 0.999997 0 + 16 60 569 0 0 35.629024 370 60 13769 459 ENST00000421176.3 0.041451 1 CEACAM20 125931 __UNKNOWN__ __UNKNOWN__ 19 45021210 45021210 __UNKNOWN__ RNA SNP G G A rs10414398 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45021210G>A ENST00000454753.1 - 0 1384 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GGTCAGGCTGGAGTTGAGCTC 0.567 NA G||| 938 0.1873 0.3033 0.2608 5008 , , NA 19063 0.1369 NA 0.0746 False NA ,,, NA NA NA 2504 0.1462 NA NA NA NA 0 G PHE/SER,,,PHE/SER 966,3270 117,732,1269 75 73 74 1106,,,1106 2.4 0 19 dbSNP_119 74 699,7777 29,641,3568 yes missense,intron,intron,missense CEACAM20 NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1 155,,,155 146,1373,4837 AA,AG,GG 8.2468,22.8045,13.0979 probably-damaging,,,probably-damaging 369/597,,,369/585 45021210 1665,11047 2118 4238 6356 AY358129 CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1 19q13.31 2013-01-30 ENSG00000176395 ENSG00000273777 125931 Immunoglobulin superfamily / Immunoglobulin-like domain containing, Immunoglobulin superfamily / I-set domain containing 24879 protein-coding gene gene with protein product NA 12975309 Standard NM_198444 NM_001102600 NA Approved UNQ9366 uc010ejo.1 Q6UY09 OTTHUMG00000151532 ENST00000454753.1: chr19.hg19:g.45021210G>A NA hg19 0.02 9.901209 CTGxAGT COVERED NOVEL CEACAM20-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000323032.1 1 9.932478 KEEP 0 0 0 33 1170 GG 0.999998 0.999998 0 - 8 60 282 0 0 16.421922 259 60 9470 351 ENST00000454753.1 0.029963 1 CEACAM20 125931 __UNKNOWN__ __UNKNOWN__ 19 45033485 45033485 __UNKNOWN__ RNA SNP A A G rs62116895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45033485A>G ENST00000454753.1 - 0 326 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 NA NA integral component of membrane (GO:0016021) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ACTCACCTGAAAGCAGGATTC 0.587 NA g||| 1067 0.213059 0.4569 0.1657 5008 , , NA 16546 0.1587 NA 0.0954 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 ,,, 1683,2519 343,997,761 53 59 57 48,48,48,48 1.2 0.8 19 dbSNP_129 57 730,7710 38,654,3528 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CEACAM20 NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1 ,,, 381,1651,4289 GG,GA,AA 8.6493,40.0524,19.0872 ,,, 16/597,16/492,16/504,16/585 45033485 2413,10229 2101 4220 6321 AY358129 CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1 19q13.31 2013-01-30 ENSG00000176395 ENSG00000273777 125931 Immunoglobulin superfamily / Immunoglobulin-like domain containing, Immunoglobulin superfamily / I-set domain containing 24879 protein-coding gene gene with protein product NA 12975309 Standard NM_198444 NM_001102600 NA Approved UNQ9366 uc010ejo.1 Q6UY09 OTTHUMG00000151532 ENST00000454753.1: chr19.hg19:g.45033485A>G NA hg19 0.02 9.861428 TGAxAGC COVERED NOVEL CEACAM20-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000323032.1 11 22.260165 KEEP 0 0 0 74 2182 AA 1 1 0 - 8 60 308 0 0 19.424389 230 60 8417 414 ENST00000454753.1 0.033613 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 45116933 45116933 __UNKNOWN__ IGR SNP G G A rs846897 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45116933G>A NA NA CEACAM22P (56783 upstream) : IGSF23 (6 downstream) NA NA NA TCCATCTCCCGGCGGGGATTG 0.597 NA G||| 1144 0.228435 0.118 0.281 5008 , , NA 18715 0.3304 NA 0.2505 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.45116933G>A NA hg19 0.02 19.3143 CCCxGCG COVERED NOVEL 0 1 28.658621 KEEP 0 2 59 116 3998 GG 1 1 0 14 60 518 0 0 30.917555 474 60 16262 789 0.028689 1 PVR 5817 __UNKNOWN__ __UNKNOWN__ 19 45153329 45153329 __UNKNOWN__ Missense_Mutation SNP G G A rs139528439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45153329G>A ENST00000425690.3 + 3 975 c.676G>A c.(676-678)Gag>Aag p.E226K PVR_ENST00000344956.4_Missense_Mutation_p.E226K|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.E226K|PVR_ENST00000403059.4_Missense_Mutation_p.E226K NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 226 Ig-like C2-type 1. NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032) cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872) large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GGTGGAGCACGAGAGCTTTGA 0.597 NA G||| 28 0.00559105 0.0008 0.0 5008 , , NA 17458 0.0268 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU 2,4404 4.2+/-10.8 0,2,2201 96 76 82 676,676,676,676 4.7 0.2 19 dbSNP_134 82 1,8599 1.2+/-3.3 0,1,4299 yes missense,missense,missense,missense PVR NM_001135768.1,NM_001135769.1,NM_001135770.1,NM_006505.3 56,56,56,56 0,3,6500 AA,AG,GG 0.0116,0.0454,0.0231 probably-damaging,probably-damaging,probably-damaging,probably-damaging 226/373,226/365,226/393,226/418 45153329 3,13003 2203 4300 6503 SO:0001583 missense BC015542 CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1 19q13.2 2013-01-29 ENSG00000073008 ENSG00000073008 5817 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9705 protein-coding gene gene with protein product nectin-like 5 173850 PVS NA 2170108 Standard NM_006505 XM_005259120 NA Approved CD155, HVED, Necl-5, NECL5, Tage4 uc002ozm.3 P15151 OTTHUMG00000151527 ENST00000425690.3:c.676G>A chr19.hg19:g.45153329G>A ENSP00000402060:p.Glu226Lys NA B4DTS9|P15152|Q15267|Q15268|Q96BJ1 hg19 CCDS12640.1 0.02 7.992401 CACxAGA COVERED 9 0.004120879120879121 0 0.0 0 0.0 9 0.015734265734265736 0 0.0 G 21.3 4.124046 0.77436 4.54E-4 1.16E-4 ENSG00000073008 ENST00000344956;ENST00000425690;ENST00000406449;ENST00000403059 T;T;T;T 0.76709 -1.04;-1.04;-1.04;-1.04 4.65 4.65 0.58169 CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.473785 0.17664 N 0.166207 T 0.80019 0.4547 M 0.83118 2.625 0.29972 N 0.818483 D;D;P;P 0.89917 1.0;0.993;0.954;0.936 D;D;P;P 0.87578 0.998;0.94;0.716;0.7 T 0.79936 -0.1593 10 0.35671 T 0.21 . 13.0096 0.58724 0.0:0.0:1.0:0.0 . 226;226;226;226 P15151-2;P15151-3;P15151-4;P15151 .;.;.;PVR_HUMAN K 226 ENSP00000340870:E226K;ENSP00000402060:E226K;ENSP00000383907:E226K;ENSP00000385344:E226K ENSP00000340870:E226K E + 1 0 PVR 49845169 0.974000 0.33945 0.214000 0.23707 0.030000 0.12068 2.191000 0.42640 2.124000 0.65301 0.491000 0.48974 GAG NOVEL PVR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000323017.2 2 23.775748 KEEP 0 0 0 79 2702 GG 1 1 0 + 8 60 278 0 0 16.473693 227 60 8329 412 ENST00000425690.3 0.034043 1 CEACAM16 388551 __UNKNOWN__ __UNKNOWN__ 19 45213701 45213701 __UNKNOWN__ Intron SNP C C T rs57684876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45213701C>T ENST00000405314.2 + 6 1364 CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Intron Q2WEN9 CEA16_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 NA NA sensory perception of sound (GO:0007605) extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426) endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) GGGGTGGGGGCACTGGGGACC 0.662 NA C||| 1645 0.328474 0.4297 0.3804 5008 , , NA 13289 0.3105 NA 0.2634 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 C 549,835 119,311,262 67 63 64 -4.1 0 19 dbSNP_129 64 776,2406 106,564,921 no intron CEACAM16 NM_001039213.2 225,875,1183 TT,TC,CC 24.3872,39.6676,29.0188 45213701 1325,3241 692 1591 2283 SO:0001627 intron_variant CCDS54278.1 19q13.31 2014-01-27 ENSG00000213892 ENSG00000213892 388551 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 31948 protein-coding gene gene with protein product 614591 NA 21368133 Standard XM_371177 NM_001039213 NA Approved DFNA4B uc010xxd.2 Q2WEN9 OTTHUMG00000151519 ENST00000405314.2:c.1268-67C>T chr19.hg19:g.45213701C>T NA A7LI12 hg19 CCDS54278.1 0.02 4.1368 GGGxACT COVERED NOVEL CEACAM16-201 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding 0 6.253304 KEEP 0 1 26 30 1027 CC 0.999997 0.999997 0 + 8 60 207 0 0 10.683426 179 60 6314 253 ENST00000405314.2 0.042781 1 PVRL2 5819 __UNKNOWN__ __UNKNOWN__ 19 45381917 45381917 __UNKNOWN__ Intron SNP C C T rs3729640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45381917C>T ENST00000252483.5 + 6 1042 PVRL2_ENST00000252485.4_3'UTR NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) NA NA acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915) cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618) breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CCGGCCCTCCCGCCCCCGACC 0.622 NA C||| 972 0.194089 0.0605 0.3141 5008 , , NA 12405 0.2192 NA 0.2217 False NA ,,, NA NA NA 2504 0.2352 NA NA NA NA 0 C , 375,3895 18,339,1778 18 20 19 , -3.4 0 19 dbSNP_107 19 1674,6714 170,1334,2690 no intron,utr-3 PVRL2 NM_001042724.1,NM_002856.2 , 188,1673,4468 TT,TC,CC 19.9571,8.7822,16.1874 , , 45381917 2049,10609 2135 4194 6329 SO:0001627 intron_variant X80038 CCDS12645.1, CCDS42576.1 19q13.32 2013-01-29 ENSG00000130202 ENSG00000130202 5819 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 9707 protein-coding gene gene with protein product 600798 HVEB NA 7622062, 10196354 Standard NM_002856 NM_001042724 NA Approved PVRR2, PRR2, CD112 uc002ozw.1 Q92692 OTTHUMG00000180839 ENST00000252483.5:c.1043-3551C>T chr19.hg19:g.45381917C>T NA A8K5L5|O75455|Q6IBI6|Q96J29 hg19 CCDS42576.1 0.02 6.451831 TCCxGCC COVERED NOVEL PVRL2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000453231.1 3 18.65729 KEEP 0 0 0 62 2106 CC 1 1 0 + 18 60 620 0 0 46.10949 143 60 4608 261 ENST00000252483.5 0.111801 1 CLPTM1 1209 __UNKNOWN__ __UNKNOWN__ 19 45493635 45493635 __UNKNOWN__ Intron SNP C C G rs875255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45493635C>G ENST00000541297.2 + 10 1555 CLPTM1_ENST00000546079.1_Intron|CLPTM1_ENST00000337392.5_Intron O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CTGGTTCCCCCCTACCCCCTG 0.647 NA C||| 2123 0.423922 0.4221 0.3098 5008 , , NA 17223 0.371 NA 0.5447 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 C 1955,2451 551.4+/-378.3 442,1071,690 99 102 101 1 0 19 dbSNP_86 101 4711,3889 605.9+/-395.0 1299,2113,888 no intron CLPTM1 NM_001294.2 1741,3184,1578 GG,GC,CC 45.2209,44.3713,48.7467 45493635 6666,6340 2203 4300 6503 SO:0001627 intron_variant AF037339 CCDS12651.1, CCDS74394.1, CCDS74395.1 19q13.3 2008-02-05 ENSG00000104853 1209 2087 protein-coding gene gene with protein product 604783 NA 9828125 Standard NM_001294 NM_001294 NA Approved uc002pai.3 O96005 ENST00000541297.2:c.1091-18C>G chr19.hg19:g.45493635C>G NA B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5 hg19 0.02 3.982184 CCCxCTA COVERED NOVEL CLPTM1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000453266.1 0 11.435524 KEEP 0 0 0 38 1297 CC 1 0.999973 0 + 6 60 204 0 0 13.357707 96 60 3468 167 ENST00000541297.2 0.058824 0.999973 MARK4 57787 __UNKNOWN__ __UNKNOWN__ 19 45781135 45781135 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45781135T>G ENST00000262891.4 + 9 1117 MARK4_ENST00000300843.4_Intron NM_001199867.1 NP_001186796.1 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 NA NA microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468) centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005) ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130) NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) gtgtAATAGGTGGGGGGCGGG 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 30 33 32 NA NA 19 NA 45781135 2203 4300 6503 SO:0001627 intron_variant AB049127 CCDS12658.1, CCDS56097.1 19q13.32 2014-04-07 2002-06-12 2002-06-14 ENSG00000007047 ENSG00000007047 57787 2.7.11.1 13538 protein-coding gene gene with protein product 606495 MAP/microtubule affinity-regulating kinase like 1 MARKL1 NA 23400999, 11326310, 9108484 Standard NM_031417 NM_001199867 NA Approved Nbla00650, FLJ90097, KIAA1860, PAR-1D uc002paz.2 Q96L34 OTTHUMG00000181769 ENST00000262891.4:c.787-46T>G chr19.hg19:g.45781135T>G NA Q8NG37|Q96JG7|Q96SQ2|Q9BYD8 hg19 CCDS56097.1 0.02 -0.400358 AGGxGGG COVERED NOVEL MARK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457537.1 1 3.601736 KEEP 0 0 0 12 292 TT 0.993634 0.928543 0 + 8 60 142 1 0 8.968785 38 60 1145 70 ENST00000262891.4 0.173913 0.934492 ERCC2 2068 __UNKNOWN__ __UNKNOWN__ 19 45862149 45862149 __UNKNOWN__ Intron SNP C C T rs180850149 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45862149C>T ENST00000391945.4 - 13 1315 ERCC2_ENST00000485403.2_Missense_Mutation_p.S396N|ERCC2_ENST00000391940.4_Missense_Mutation_p.S396N|ERCC2_ENST00000391944.3_Intron NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementation group 2 NA NA 7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032) cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) 4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) gttcctgctgcttccacagtg 0.393 NA Mis, N, F, S skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum C||| 2 0.000399361 0.0 0.0 5008 , , NA 19782 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA yes Rec Xeroderma pigmentosum (D) 19 19q13.2-q13.3 2068 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) E 0 106 102 103 NA NA 19 NA 45862149 1568 3582 5150 SO:0001627 intron_variant Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV CCDS33049.1, CCDS46112.1 19q13.3 2014-09-17 2014-03-07 ENSG00000104884 ENSG00000104884 2068 3.6.4.12 General transcription factor IIH complex subunits 3434 protein-coding gene gene with protein product excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit 126340 xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2 XPD NA 8413672, 2184031 Standard NM_000400 NM_000400 NA Approved MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH uc002pbj.2 P18074 OTTHUMG00000048190 ENST00000391945.4:c.1238-1192G>A chr19.hg19:g.45862149C>T NA Q2TB78|Q2YDY2|Q7KZU6|Q8N721 hg19 CCDS33049.1 0.02 8.782717 CTGxTTC COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 8.857 0.946045 0.18356 . . ENSG00000104884 ENST00000391940 T 0.68025 -0.3 2.71 0.504 0.16946 . . . . . T 0.49012 0.1532 . . . 0.09310 N 0.999998 B 0.02656 0.0 B 0.01281 0.0 T 0.37314 -0.9711 8 0.46703 T 0.11 . 4.8743 0.13648 0.0:0.6944:0.0:0.3056 . 396 Q7KZU6 . N 396 ENSP00000375804:S396N ENSP00000375804:S396N S - 2 0 ERCC2 50553989 0.000000 0.05858 0.020000 0.16555 0.500000 0.33767 -0.317000 0.08060 0.214000 0.20742 0.555000 0.69702 AGC NOVEL ERCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109626.2 0 11.73781 KEEP 0 0 0 39 1374 CC 1 1 0 - 12 60 423 0 0 27.987192 201 60 7644 309 ENST00000391945.4 0.056338 1 ERCC2 2068 __UNKNOWN__ __UNKNOWN__ 19 45864989 45864989 __UNKNOWN__ Intron SNP C C T rs577987254 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45864989C>T ENST00000391945.4 - 12 1196 ERCC2_ENST00000485403.2_Intron|ERCC2_ENST00000391940.4_Intron|ERCC2_ENST00000391944.3_Intron NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementation group 2 NA NA 7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032) cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819) 4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) Cggtcacgtgcctgtctcccc 0.617 NA Mis, N, F, S skin basal cell, skin squamous cell, melanoma Nucleotide excision repair (NER) Xeroderma Pigmentosum C||| 4 0.000798722 0.0 0.0 5008 , , NA 17720 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA yes Rec Xeroderma pigmentosum (D) 19 19q13.2-q13.3 2068 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV CCDS33049.1, CCDS46112.1 19q13.3 2014-09-17 2014-03-07 ENSG00000104884 ENSG00000104884 2068 3.6.4.12 General transcription factor IIH complex subunits 3434 protein-coding gene gene with protein product excision repair cross-complementing rodent repair deficiency, complementation group 2 protein, TFIIH basal transcription factor complex helicase XPB subunit 126340 xeroderma pigmentosum complementary group D, excision repair cross-complementing rodent repair deficiency, complementation group 2 XPD NA 8413672, 2184031 Standard NM_000400 NM_000400 NA Approved MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH uc002pbj.2 P18074 OTTHUMG00000048190 ENST00000391945.4:c.1119-89G>A chr19.hg19:g.45864989C>T NA Q2TB78|Q2YDY2|Q7KZU6|Q8N721 hg19 CCDS33049.1 0.02 12.112337 GTGxCTG COVERED NOVEL ERCC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000109626.2 0 14.744419 KEEP 0 0 0 49 1725 CC 1 1 0 - 13 60 431 0 0 25.90388 297 60 10911 438 ENST00000391945.4 0.041935 1 PPP1R13L 10848 __UNKNOWN__ __UNKNOWN__ 19 45895126 45895126 __UNKNOWN__ Intron SNP T T C rs35511648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45895126T>C ENST00000418234.2 - 8 1894 PPP1R13L_ENST00000360957.5_Intron NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like NA NA apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229) cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634) identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGTTTCCTCCTGTATTACTTA 0.572 NA T||| 553 0.110423 0.261 0.0663 5008 , , NA 17767 0.1101 NA 0.005 False NA ,,, NA NA NA 2504 0.047 NA NA NA Pancreas(61;1447 1663 31419 50578) NA 0 T , 817,3589 297.6+/-284.8 66,685,1452 26 29 28 , 1 0 19 dbSNP_126 28 24,8572 14.6+/-50.1 0,24,4274 no intron,intron PPP1R13L NM_001142502.1,NM_006663.3 , 66,709,5726 CC,CT,TT 0.2792,18.5429,6.4682 , , 45895126 841,12161 2203 4298 6501 SO:0001627 intron_variant AF078036 CCDS33050.1 19q13.32 2013-01-10 2011-10-04 ENSG00000104881 ENSG00000104881 10848 Ankyrin repeat domain containing 18838 protein-coding gene gene with protein product 607463 protein phosphatase 1, regulatory (inhibitor) subunit 13 like NA 10336463 Standard NM_006663 NM_006663 NA Approved RAI, IASPP uc002pbo.3 Q8WUF5 ENST00000418234.2:c.1815+11A>G chr19.hg19:g.45895126T>C NA Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290 hg19 CCDS33050.1 0.02 4.64869 TCCxGTA COVERED NOVEL PPP1R13L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457586.1 1 13.239096 KEEP 0 0 0 44 1359 TT 1 0.999998 0 - 6 60 214 0 0 14.012907 110 60 4044 195 ENST00000418234.2 0.051724 0.999998 ERCC1 2067 __UNKNOWN__ __UNKNOWN__ 19 45923496 45923496 __UNKNOWN__ Intron SNP T T C rs3212955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45923496T>C ENST00000591636.1 - 3 552 ERCC1_ENST00000013807.5_Intron|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000589165.1_Intron|ERCC1_ENST00000300853.3_Intron|ERCC1_ENST00000340192.7_Intron P07992 ERCC1_HUMAN excision repair cross-complementation group 1 NA NA cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650) cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669) damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1) 15 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) AGGCTTCTCATAGAACAGTCC 0.627 NA Nucleotide excision repair (NER) T||| 1423 0.284145 0.289 0.3487 5008 , , NA 13414 0.2867 NA 0.2485 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12662.1, CCDS12663.1, CCDS54279.1 19q13.32 2014-03-07 2014-03-07 ENSG00000012061 2067 3433 protein-coding gene gene with protein product 126380 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) NA 6462228 Standard NM_001983 NM_001983 NA Approved RAD10 uc002pbs.2 P07992 ENST00000591636.1:c.425+85A>G chr19.hg19:g.45923496T>C NA B2RC01|B3KRR0|Q7Z7F5|Q96S40 hg19 0.02 2.36126 TCAxAGA COVERED NOVEL ERCC1-013 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000459547.1 0 3.008153 KEEP 0 0 0 10 292 TT 0.992708 0.980739 0 - 4 60 157 0 0 11.227874 56 60 2038 72 ENST00000591636.1 0.066667 0.987943 FOSB 2354 __UNKNOWN__ __UNKNOWN__ 19 45972039 45972039 __UNKNOWN__ Intron SNP A A C rs2282696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45972039A>C ENST00000443841.2 + 1 718 ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000353609.3_Intron|FOSB_ENST00000590335.1_Intron|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000417353.2_Intron P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B NA NA cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) AAAAGAATAAACCCCAACCCC 0.488 NA C||| 3159 0.630791 0.7542 0.5274 5008 , , NA 15040 0.6558 NA 0.4732 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS12664.1, CCDS46113.1 19q13.3 2013-01-10 2354 basic leucine zipper proteins 3797 protein-coding gene gene with protein product oncogene FOS-B, activator protein 1 164772 NA 1301997 Standard NM_006732 NM_006732 NA Approved G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818 uc002pbx.4 P53539 ENST00000443841.2:c.126+69A>C chr19.hg19:g.45972039A>C NA A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7 hg19 0.02 -0.36845 TAAxCCC COVERED NOVEL FOSB-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000459563.1 0 12.031669 KEEP 0 0 0 40 1165 AA 1 0.899314 0 + 4 60 152 0 0 11.373112 38 60 1301 99 ENST00000443841.2 0.095238 0.899314 FOSB 2354 __UNKNOWN__ __UNKNOWN__ 19 45974593 45974593 __UNKNOWN__ Intron SNP T T C rs2276469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45974593T>C ENST00000443841.2 + 2 718 FOSB_ENST00000592811.1_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000592436.1_Intron|FOSB_ENST00000586615.1_Intron|FOSB_ENST00000353609.3_Intron|FOSB_ENST00000590335.1_3'UTR|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000417353.2_Intron P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B NA NA cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) AGAGGGGATGTTGAGGGGAGC 0.582 NA C||| 3161 0.63119 0.7542 0.5274 5008 , , NA 14643 0.6567 NA 0.4742 False NA ,,, NA NA NA 2504 0.6738 NA NA NA NA 0 , 2943,1297 1046,851,223 24 19 21 , -0.3 0 19 dbSNP_100 21 3907,4359 992,1923,1218 no intron,intron FOSB NM_001114171.1,NM_006732.2 , 2038,2774,1441 CC,CT,TT 47.2659,30.5896,45.2263 , , 45974593 6850,5656 2120 4133 6253 SO:0001627 intron_variant CCDS12664.1, CCDS46113.1 19q13.3 2013-01-10 2354 basic leucine zipper proteins 3797 protein-coding gene gene with protein product oncogene FOS-B, activator protein 1 164772 NA 1301997 Standard NM_006732 NM_006732 NA Approved G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818 uc002pbx.4 P53539 ENST00000443841.2:c.127-1216T>C chr19.hg19:g.45974593T>C NA A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7 hg19 0.02 2.154474 ATGxTGA COVERED NOVEL FOSB-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000459563.1 1 24.674893 KEEP 0 0 0 82 2619 TT 1 0.999919 0 + 5 60 196 0 0 13.48168 90 60 3140 213 ENST00000443841.2 0.052632 0.999919 RTN2 6253 __UNKNOWN__ __UNKNOWN__ 19 45989473 45989473 __UNKNOWN__ Intron SNP G G T rs73567088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45989473G>T ENST00000344680.4 - 9 1508 RTN2_ENST00000245923.4_Intron|RTN2_ENST00000430715.2_Intron|RTN2_ENST00000590526.1_Intron NM_206900.2 NP_996783.1 O75298 RTN2_HUMAN reticulon 2 NA NA cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802) cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TAGGAGTTGTGAAGAGTGGCC 0.498 NA OREG0025555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 579 0.115615 0.0605 0.1095 5008 , , NA 15001 0.2113 NA 0.0636 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF038540 CCDS12665.1, CCDS12666.1, CCDS46114.1 19q13.2-q13.3 2012-03-30 ENSG00000125744 6253 10468 protein-coding gene gene with protein product NSP-like protein 1, Neuroendocrine-specific protein-like 1 603183 spastic paraplegia 12 (autosomal dominant) SPG12 NA 8812484, 9530622, 22232211 Standard NM_005619 NM_005619 NA Approved NSP2, NSPL1 uc002pcb.4 O75298 ENST00000344680.4:c.1279-102C>A chr19.hg19:g.45989473G>T 935 O60509|Q7RTM6|Q7RTN1|Q7RTN2 hg19 CCDS12666.1 0.02 -0.377243 TGTxAAG COVERED NOVEL RTN2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459578.1 0 4.514687 KEEP 0 0 0 15 530 GG 0.99649 0.905878 0 - 3 60 108 0 0 7.507417 40 60 1492 67 ENST00000344680.4 0.069767 0.909069 PPM1N 147699 __UNKNOWN__ __UNKNOWN__ 19 45998247 45998247 __UNKNOWN__ Intron SNP A A G rs10401270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:45998247A>G ENST00000401705.1 + 2 203 RTN2_ENST00000344680.4_Silent_p.S32S|RTN2_ENST00000245923.4_Silent_p.S32S|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) NA NA magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 CTCGAAAATCAGAGTCGTCGT 0.627 NA G||| 765 0.152756 0.1505 0.1326 5008 , , NA 16502 0.2183 NA 0.0984 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 , 638,3768 766.2+/-413.4 58,522,1623 69 67 68 96,96 -10.9 0 19 dbSNP_119 68 889,7711 777.0+/-407.7 51,787,3462 no coding-synonymous,coding-synonymous RTN2 NM_005619.3,NM_206900.1 , 109,1309,5085 GG,GA,AA 10.3372,14.4803,11.7407 , 32/546,32/473 45998247 1527,11479 2203 4300 6503 SO:0001627 intron_variant AK097444 CCDS46115.1 19q13.32 2012-04-17 ENSG00000213889 ENSG00000213889 147699 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 26845 protein-coding gene gene with protein product NA Standard NM_001080401 NM_001080401 NA Approved FLJ40125 uc002pce.3 Q8N819 OTTHUMG00000140397 ENST00000401705.1:c.-15-4960A>G chr19.hg19:g.45998247A>G NA Q6P662 hg19 0.02 9.567229 ATCxGAG COVERED NOVEL PPM1N-008 KNOWN alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000326520.1 3 39.715556 KEEP 0 0 0 132 4073 AA 1 1 0 + 13 60 477 0 0 32.308233 213 60 8001 454 ENST00000401705.1 0.057522 1 PPM1N 147699 __UNKNOWN__ __UNKNOWN__ 19 46002456 46002456 __UNKNOWN__ Intron SNP G G T rs3745821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46002456G>T ENST00000401705.1 + 2 203 PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000324688.4_Silent_p.P164P|PPM1N_ENST00000451287.2_Silent_p.P242P Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) NA NA magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 AGGAGGCTCCGGGGAGGCCCC 0.697 NA G||| 559 0.111621 0.0257 0.2075 5008 , , NA 15593 0.2054 NA 0.0755 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 148,3678 2,144,1767 18 22 20 726 -3.2 0.5 19 dbSNP_107 20 621,7559 23,575,3492 no coding-synonymous PPM1N NM_001080401.1 25,719,5259 TT,TG,GG 7.5917,3.8683,6.4051 242/431 46002456 769,11237 1913 4090 6003 SO:0001627 intron_variant AK097444 CCDS46115.1 19q13.32 2012-04-17 ENSG00000213889 ENSG00000213889 147699 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 26845 protein-coding gene gene with protein product NA Standard NM_001080401 NM_001080401 NA Approved FLJ40125 uc002pce.3 Q8N819 OTTHUMG00000140397 ENST00000401705.1:c.-15-751G>T chr19.hg19:g.46002456G>T NA Q6P662 hg19 0.02 9.071463 TCCxGGG COVERED NOVEL PPM1N-008 KNOWN alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000326520.1 2 43.939982 KEEP 0 0 0 146 5058 GG 1 1 0 + 9 60 339 0 0 21.5827 228 60 8192 495 ENST00000401705.1 0.037975 1 PPM1N 147699 __UNKNOWN__ __UNKNOWN__ 19 46003068 46003068 __UNKNOWN__ Intron SNP A A G rs35446288|rs71337249 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46003068A>G ENST00000401705.1 + 2 203 PPM1N_ENST00000396735.2_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000324688.4_3'UTR|PPM1N_ENST00000451287.2_Intron Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) NA NA magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 GGTCCCAGTAAGAGAGGATTG 0.537 NA G||| 1202 0.240016 0.0862 0.3343 5008 , , NA 16896 0.4236 NA 0.174 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK097444 CCDS46115.1 19q13.32 2012-04-17 ENSG00000213889 ENSG00000213889 147699 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 26845 protein-coding gene gene with protein product NA Standard NM_001080401 NM_001080401 NA Approved FLJ40125 uc002pce.3 Q8N819 OTTHUMG00000140397 ENST00000401705.1:c.-15-139A>G chr19.hg19:g.46003068A>G NA Q6P662 hg19 0.02 7.420085 GTAxGAG COVERED NOVEL PPM1N-008 KNOWN alternative_5_UTR|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000326520.1 1 7.220035 KEEP 0 0 0 24 727 AA 0.999909 0.999909 0 + 11 60 409 0 0 28.97553 142 60 5163 194 ENST00000401705.1 0.071895 1 VASP 7408 __UNKNOWN__ __UNKNOWN__ 19 46025400 46025400 __UNKNOWN__ Intron SNP G G C rs2301285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46025400G>C ENST00000245932.6 + 5 784 VASP_ENST00000586619.1_Intron NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein NA NA actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923) profilin binding (GO:0005522) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CCTGATTGACGGCAGCTCTCT 0.642 NA G||| 671 0.133986 0.1868 0.2061 5008 , , NA 11480 0.2123 NA 0.0239 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 647,3759 262.2+/-264.8 43,561,1599 34 42 39 -1.2 0 19 dbSNP_100 39 256,8342 96.8+/-158.5 3,250,4046 no intron VASP NM_003370.3 46,811,5645 CC,CG,GG 2.9774,14.6845,6.944 46025400 903,12101 2203 4299 6502 SO:0001627 intron_variant CCDS33051.1 19q13.32 2012-02-22 ENSG00000125753 ENSG00000125753 7408 12652 protein-coding gene gene with protein product 601703 NA 8812448 Standard XM_005259199 NA Approved uc002pcg.3 P50552 ENST00000245932.6:c.429-26G>C chr19.hg19:g.46025400G>C NA B2RBT9|Q6PIZ1|Q93035 hg19 CCDS33051.1 0.02 2.531265 GACxGCA COVERED NOVEL VASP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459589.1 0 5.716925 KEEP 0 0 0 19 600 GG 0.99986 0.967289 0 + 8 60 291 0 0 23.296684 43 60 1411 76 ENST00000245932.6 0.156863 0.967425 VASP 7408 __UNKNOWN__ __UNKNOWN__ 19 46026970 46026970 __UNKNOWN__ Intron SNP T T A rs11880111 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46026970T>A ENST00000245932.6 + 8 1229 NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein NA NA actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923) profilin binding (GO:0005522) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CAGGGACTCTTCTTGCCCTAC 0.517 NA OREG0025556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 1432 0.285942 0.3177 0.2997 5008 , , NA 18165 0.3651 NA 0.1431 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 1297,3109 438.0+/-345.2 187,923,1093 92 70 78 0.7 0 19 dbSNP_120 78 1436,7164 275.6+/-291.8 108,1220,2972 no intron VASP NM_003370.3 295,2143,4065 AA,AT,TT 16.6977,29.4371,21.0134 46026970 2733,10273 2203 4300 6503 SO:0001627 intron_variant CCDS33051.1 19q13.32 2012-02-22 ENSG00000125753 ENSG00000125753 7408 12652 protein-coding gene gene with protein product 601703 NA 8812448 Standard XM_005259199 NA Approved uc002pcg.3 P50552 ENST00000245932.6:c.873+17T>A chr19.hg19:g.46026970T>A 936 B2RBT9|Q6PIZ1|Q93035 hg19 CCDS33051.1 0.02 3.695805 TCTxCTT COVERED NOVEL VASP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459589.1 3 13.374371 KEEP 0 1 30 55 1747 TT 1 1 0 + 8 60 273 0 0 17.657939 138 60 4961 243 ENST00000245932.6 0.054795 1 VASP 7408 __UNKNOWN__ __UNKNOWN__ 19 46029172 46029172 __UNKNOWN__ Intron SNP C C G rs3815409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46029172C>G ENST00000245932.6 + 12 1403 NM_003370.3 NP_003361.1 P50552 VASP_HUMAN vasodilator-stimulated phosphoprotein NA NA actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923) profilin binding (GO:0005522) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CCCGGTACCCCCTCCTGATTA 0.453 NA C||| 480 0.0958466 0.0492 0.1931 5008 , , NA 17976 0.2123 NA 0.0239 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 216,4190 128.2+/-165.1 3,210,1990 93 97 96 -2.8 0 19 dbSNP_107 96 257,8343 99.3+/-160.8 2,253,4045 no intron VASP NM_003370.3 5,463,6035 GG,GC,CC 2.9884,4.9024,3.6368 46029172 473,12533 2203 4300 6503 SO:0001627 intron_variant CCDS33051.1 19q13.32 2012-02-22 ENSG00000125753 ENSG00000125753 7408 12652 protein-coding gene gene with protein product 601703 NA 8812448 Standard XM_005259199 NA Approved uc002pcg.3 P50552 ENST00000245932.6:c.1048-32C>G chr19.hg19:g.46029172C>G NA B2RBT9|Q6PIZ1|Q93035 hg19 CCDS33051.1 0.02 9.075082 CCCxCTC COVERED NOVEL VASP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459589.1 3 24.980025 KEEP 0 0 0 83 2877 CC 1 1 0 + 8 60 280 0 0 17.007522 206 60 7419 353 ENST00000245932.6 0.037383 1 OPA3 80207 __UNKNOWN__ __UNKNOWN__ 19 46057081 46057081 __UNKNOWN__ Intron SNP A A G rs3826860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46057081A>G ENST00000323060.3 - 2 220 OPA3_ENST00000263275.4_Silent_p.A77A|OPA3_ENST00000544371.1_Silent_p.A24A NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) NA NA growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601) mitochondrion (GO:0005739) cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CGCCCAGCTCAGCTGCCGCCT 0.662 NA G||| 3841 0.766973 0.7806 0.8055 5008 , , NA 16229 0.8869 NA 0.664 False NA ,,, NA NA NA 2504 0.7035 NA NA NA NA 0 , 3339,1053 1291,757,148 17 20 19 http://www.ncbi.nlm.nih.gov/sites/varvu?gene ,231 -5.2 0.8 19 dbSNP_107 19 5522,3068 1813,1896,586 no intron,coding-synonymous OPA3 NM_001017989.2,NM_025136.3 , 3104,2653,734 GG,GA,AA 35.7159,23.9754,31.744 , ,77/180 46057081 8861,4121 2196 4295 6491 SO:0001627 intron_variant AK025840 CCDS12668.1, CCDS33052.1 19q13.2-q13.3 2014-01-28 ENSG00000125741 80207 8142 protein-coding gene gene with protein product 606580 NA 9097959, 11668429 Standard NM_001017989 NA Approved FLJ22187, MGA3 uc002pcj.4 Q9H6K4 ENST00000323060.3:c.143-24367T>C chr19.hg19:g.46057081A>G NA Q6P384|Q8N784 hg19 CCDS33052.1 0.02 12.466377 CTCxGCT COVERED NOVEL OPA3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459600.1 1 27.383451 KEEP 0 0 0 91 2895 AA 1 1 0 - 22 60 736 0 0 49.479776 293 60 10847 504 ENST00000323060.3 0.069841 1 AC074212.3 0 __UNKNOWN__ __UNKNOWN__ 19 46265029 46265029 __UNKNOWN__ Silent SNP C C T rs8112282 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46265029C>T ENST00000457052.2 + 12 1754 c.1338C>T c.(1336-1338)agC>agT p.S446S NA NA NA TCTCGCTGAGCGGGAACAGCA 0.657 NA C||| 2688 0.536741 0.416 0.6455 5008 , , NA 14705 0.6151 NA 0.4682 False NA ,,, NA NA NA 2504 0.6125 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant NA NA NA NA ENST00000457052.2:c.1338C>T chr19.hg19:g.46265029C>T NA hg19 0.02 8.762764 GAGxGGG COVERED NOVEL AC074212.3-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000343318.3 2 13.241979 KEEP 0 0 0 44 1507 CC 1 1 0 + 9 60 306 0 0 19.131461 195 60 6513 290 ENST00000457052.2 0.044118 1 DMPK 1760 __UNKNOWN__ __UNKNOWN__ 19 46274972 46274972 __UNKNOWN__ Intron SNP A A C rs915915 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46274972A>C ENST00000354227.5 - 12 1624 AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000458663.2_Intron|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000600757.1_Intron|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000291270.4_Intron|DMPK_ENST00000343373.4_Intron Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase NA NA cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823) cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674) endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) ACGAGAGGGGATGCCAAGGGT 0.701 NA C||| 2885 0.576078 0.5545 0.6556 5008 , , NA 14432 0.629 NA 0.4652 False NA ,,, NA NA NA 2504 0.6084 NA NA NA Esophageal Squamous(35;307 869 9153 24033 28903) NA 0 C ,,, 2325,2081 617,1091,495 23 23 23 ,,, 2.4 0.2 19 dbSNP_89 23 3895,4705 891,2113,1296 no intron,intron,intron,intron DMPK NM_001081560.1,NM_001081562.1,NM_001081563.1,NM_004409.3 ,,, 1508,3204,1791 CC,CA,AA 45.2907,47.231,47.8241 ,,, ,,, 46274972 6220,6786 2203 4300 6503 SO:0001627 intron_variant L19268 CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1 19q13.3 2014-02-05 1760 2.7.11.1 2933 protein-coding gene gene with protein product dystrophia myotonica 1, DM protein kinase, myotonin protein kinase A, myotonic dystrophy associated protein kinase, thymopoietin homolog 605377 dystrophia myotonica 1 (includes dystrophia myotonia protein kinase) DM1, DM NA 1546325, 1546326 Standard NM_004409 NM_001288765 NA Approved DMK, DM1PK, MDPK, MT-PK uc002pdf.1 Q09013 ENST00000354227.5:c.1488-49T>G chr19.hg19:g.46274972A>C NA E5KR08|Q16205|Q6P5Z6 hg19 0.02 16.907057 GGGxTGC COVERED NOVEL DMPK-003 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000460577.1 4 95.039062 KEEP 0 0 0 316 9685 AA 1 1 0 - 11 60 390 0 0 23.43157 355 60 12032 889 ENST00000354227.5 0.030055 1 SYMPK 8189 __UNKNOWN__ __UNKNOWN__ 19 46333488 46333488 __UNKNOWN__ Intron SNP T T C rs142657427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46333488T>C ENST00000245934.7 - 13 1843 AC092301.3_ENST00000601618.1_RNA NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin NA NA cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) GTGACAGAGATGCAGTGACCC 0.592 NA T||| 19 0.00379393 0.0 0.0 5008 , , NA 17919 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 20 18 19 NA NA 19 NA 46333488 2203 4300 6503 SO:0001627 intron_variant U49240 CCDS12676.2 19q13.3 2008-02-05 ENSG00000125755 ENSG00000125755 8189 22935 protein-coding gene gene with protein product 602388 NA 9330635 Standard NM_004819 NM_004819 NA Approved SYM, SPK uc002pdn.3 Q92797 OTTHUMG00000150151 ENST00000245934.7:c.1599-26A>G chr19.hg19:g.46333488T>C NA O00521|O00689|O00733|Q59GT5|Q8N2U5 hg19 CCDS12676.2 0.02 13.255846 AGAxGCA COVERED NOVEL SYMPK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316581.1 2 20.161122 KEEP 0 0 0 67 2130 TT 1 1 0 - 9 60 332 0 0 19.746875 307 60 11154 461 ENST00000245934.7 0.028481 1 IGFL4 444882 __UNKNOWN__ __UNKNOWN__ 19 46546187 46546187 __UNKNOWN__ Intron SNP G G T rs10408104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46546187G>T ENST00000601672.1 - 3 184 IGFL4_ENST00000595006.1_Intron Q6B9Z1 IGFL4_HUMAN IGF-like family member 4 NA NA extracellular space (GO:0005615) cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) atgacctcacgttctgggaag 0.537 NA G||| 555 0.110823 0.3245 0.0576 5008 , , NA 17652 0.0744 NA 0.002 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY672114 CCDS33057.1 19q13.32 2006-07-14 444882 32931 protein-coding gene gene with protein product 610547 NA 14702039 Standard NM_001002923 NM_001002923 NA Approved uc002pdy.1 Q6B9Z1 ENST00000601672.1:c.322-1819C>A chr19.hg19:g.46546187G>T NA hg19 0.02 1.980543 CACxTTC COVERED NOVEL IGFL4-003 PUTATIVE basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000461699.1 0 2.407678 KEEP 0 0 0 8 270 AG 0.99254 0.992422 0 - 5 60 188 0 0 12.752628 87 60 3045 123 ENST00000601672.1 0.054348 0.999881 AC007193.6 0 __UNKNOWN__ __UNKNOWN__ 19 46640903 46640903 __UNKNOWN__ lincRNA SNP A A T rs73048040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46640903A>T ENST00000597989.1 + 0 16 NA NA NA GTGACCCAGGATGGGGACACC 0.498 NA A||| 269 0.0537141 0.0794 0.0403 5008 , , NA 20545 0.0655 NA 0.0179 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000597989.1: chr19.hg19:g.46640903A>T NA hg19 0.02 2.0597 AGGxTGG COVERED NOVEL AC007193.6-001 KNOWN mRNA_end_NF|basic lincRNA NA lincRNA OTTHUMT00000461708.1 3 2.708065 KEEP 0 0 0 9 277 AA 0.99254 0.992031 0 + 4 60 140 0 0 8.950533 79 60 2884 106 ENST00000597989.1 0.048193 0.999487 HIF3A 64344 __UNKNOWN__ __UNKNOWN__ 19 46808371 46808371 __UNKNOWN__ Intron SNP C C T rs4802306 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46808371C>T ENST00000377670.4 + 3 248 HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000300862.3_Intron|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000339613.2_Intron NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit NA NA cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TAGGATGTACCCCCACTTCCT 0.512 NA C||| 974 0.194489 0.2436 0.1254 5008 , , NA 19783 0.2629 NA 0.1471 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027725 CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2 19q13 2013-05-21 ENSG00000124440 ENSG00000124440 64344 Basic helix-loop-helix proteins 15825 protein-coding gene gene with protein product 609976 NA 11573933, 11734856 Standard NM_152794 NA Approved IPAS, MOP7, PASD7, bHLHe17 uc002peh.3 Q9Y2N7 OTTHUMG00000141296 ENST00000377670.4:c.218-131C>T chr19.hg19:g.46808371C>T NA B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2 hg19 CCDS12681.2 0.02 4.669864 TACxCCC COVERED 419 0.19184981684981686 102 0.2073170731707317 52 0.143646408839779 153 0.2674825174825175 112 0.14775725593667546 C 10.91 1.483733 0.26598 . . ENSG00000124440 ENST00000533145 . . . 4.05 -2.34 0.06704 . . . . . T 0.00012 0.0000 . . . 0.58432 P 2.9999999999752447E-6 . . . . . . T 0.35919 -0.9769 4 0.07325 T 0.83 . 0.8397 0.01147 0.1638:0.3387:0.1617:0.3358 rs4802306 . . . S 58 . ENSP00000435200:P58S P + 1 0 HIF3A 51500211 0.002000 0.14202 0.000000 0.03702 0.084000 0.17831 0.060000 0.14342 -0.366000 0.08064 0.591000 0.81541 CCC NOVEL HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280556.3 2 10.833063 KEEP 0 0 0 36 1230 CC 0.999999 0.999999 0 + 8 60 306 0 0 21.480712 118 60 4243 189 ENST00000377670.4 0.063492 1 HIF3A 64344 __UNKNOWN__ __UNKNOWN__ 19 46814003 46814003 __UNKNOWN__ Intron SNP C C G rs79263603 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46814003C>G ENST00000377670.4 + 6 801 HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000300862.3_Intron|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000525854.1_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000339613.2_Intron NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit NA NA cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TTATTGTCATCATTACttttt 0.478 NA C||| 768 0.153355 0.0083 0.2378 5008 , , NA 19714 0.3214 NA 0.1093 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027725 CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2 19q13 2013-05-21 ENSG00000124440 ENSG00000124440 64344 Basic helix-loop-helix proteins 15825 protein-coding gene gene with protein product 609976 NA 11573933, 11734856 Standard NM_152794 NA Approved IPAS, MOP7, PASD7, bHLHe17 uc002peh.3 Q9Y2N7 OTTHUMG00000141296 ENST00000377670.4:c.770+1387C>G chr19.hg19:g.46814003C>G NA B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2 hg19 CCDS12681.2 0.02 2.053987 CATxATT COVERED NOVEL HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280556.3 0 8.426704 KEEP 0 0 0 28 963 CC 0.999997 0.999916 0 + 6 60 224 0 0 15.546011 89 60 3381 140 ENST00000377670.4 0.063158 0.999919 HIF3A 64344 __UNKNOWN__ __UNKNOWN__ 19 46815310 46815310 __UNKNOWN__ Intron SNP G G A rs12461322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46815310G>A ENST00000377670.4 + 7 801 HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000300862.3_Intron|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000525854.1_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000339613.2_Intron NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit NA NA cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AATCCTTCTCGACATCTTGCT 0.517 NA G||| 751 0.14996 0.0076 0.2378 5008 , , NA 17160 0.3135 NA 0.1034 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 G ,,, 48,1704 1,46,829 337 294 307 ,,, -6.9 0 19 dbSNP_120 307 453,3529 25,403,1563 no intron,intron,intron,intron HIF3A NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2 ,,, 26,449,2392 AA,AG,GG 11.3762,2.7397,8.7374 ,,, ,,, 46815310 501,5233 876 1991 2867 SO:0001627 intron_variant AK027725 CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2 19q13 2013-05-21 ENSG00000124440 ENSG00000124440 64344 Basic helix-loop-helix proteins 15825 protein-coding gene gene with protein product 609976 NA 11573933, 11734856 Standard NM_152794 NA Approved IPAS, MOP7, PASD7, bHLHe17 uc002peh.3 Q9Y2N7 OTTHUMG00000141296 ENST00000377670.4:c.771-108G>A chr19.hg19:g.46815310G>A NA B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2 hg19 CCDS12681.2 0.02 17.769403 CTCxACA COVERED NOVEL HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280556.3 4 28.889716 KEEP 0 0 0 96 3208 GG 1 1 0 + 27 60 974 0 0 67.295813 376 60 12907 606 ENST00000377670.4 0.066998 1 HIF3A 64344 __UNKNOWN__ __UNKNOWN__ 19 46823702 46823702 __UNKNOWN__ Missense_Mutation SNP A A G rs3764609 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46823702A>G ENST00000377670.4 + 9 1059 c.1028A>G c.(1027-1029)cAg>cGg p.Q343R HIF3A_ENST00000420102.2_Missense_Mutation_p.Q292R|HIF3A_ENST00000600383.1_Missense_Mutation_p.Q274R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.Q341R|HIF3A_ENST00000472815.1_Missense_Mutation_p.Q274R|HIF3A_ENST00000244303.6_Missense_Mutation_p.Q274R|HIF3A_ENST00000339613.2_Missense_Mutation_p.Q287R NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 343 NA Q -> R (in dbSNP:rs3764609). {ECO:0000269|PubMed:15489334}. cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TACCCCAGCCAGGTGGAAGAG 0.597 NA G||| 1131 0.225839 0.0408 0.2824 5008 , , NA 16275 0.3988 NA 0.1809 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 G ARG/GLN,ARG/GLN,ARG/GLN,ARG/GLN 319,4087 795.8+/-415.3 12,295,1896 75 71 72 821,1022,1028,821 2.7 1 19 dbSNP_107 72 1601,6999 742.1+/-407.2 162,1277,2861 yes missense,missense,missense,missense HIF3A NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2 43,43,43,43 174,1572,4757 GG,GA,AA 18.6163,7.2401,14.7624 benign,benign,benign,benign 274/601,341/668,343/670,274/451 46823702 1920,11086 2203 4300 6503 SO:0001583 missense AK027725 CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2 19q13 2013-05-21 ENSG00000124440 ENSG00000124440 64344 Basic helix-loop-helix proteins 15825 protein-coding gene gene with protein product 609976 NA 11573933, 11734856 Standard NM_152794 NA Approved IPAS, MOP7, PASD7, bHLHe17 uc002peh.3 Q9Y2N7 OTTHUMG00000141296 ENST00000377670.4:c.1028A>G chr19.hg19:g.46823702A>G ENSP00000366898:p.Gln343Arg NA B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2 hg19 CCDS12681.2 0.02 12.122638 GCCxGGT COVERED 508 0.2326007326007326 20 0.04065040650406504 88 0.2430939226519337 254 0.44405594405594406 146 0.19261213720316622 G 11.06 1.528818 0.27387 0.072401 0.186163 ENSG00000124440 ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102 T;T;T;T;T 0.16897 2.31;2.31;2.31;2.31;2.31 4.85 2.68 0.31781 . 0.167273 0.28815 N 0.014058 T 0.00012 0.0000 N 0.01576 -0.805 0.58432 P 9.000000000036756E-6 B;B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0;0.0 B;B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0;0.0 T 0.46748 -0.9169 9 0.30078 T 0.28 . 5.1771 0.15141 0.1682:0.0:0.6716:0.1603 rs3764609;rs52805117;rs59819378;rs3764609 292;274;341;287;343;343 F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185 .;.;.;.;HIF3A_HUMAN;. R 343;343;274;287;287;341;292 ENSP00000366898:Q343R;ENSP00000244303:Q274R;ENSP00000341877:Q287R;ENSP00000300862:Q341R;ENSP00000407771:Q292R ENSP00000244302:Q343R Q + 2 0 HIF3A 51515542 0.987000 0.35691 0.980000 0.43619 0.385000 0.30292 0.545000 0.23268 0.208000 0.20626 -0.930000 0.02707 CAG NOVEL HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280556.3 0 21.339922 KEEP 0 0 0 71 2251 AA 1 1 0 + 22 60 824 0 0 58.812651 276 60 10304 474 ENST00000377670.4 0.073826 1 HIF3A 64344 __UNKNOWN__ __UNKNOWN__ 19 46823751 46823751 __UNKNOWN__ Silent SNP C C T rs3764610 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46823751C>T ENST00000377670.4 + 9 1108 c.1077C>T c.(1075-1077)caC>caT p.H359H HIF3A_ENST00000420102.2_Silent_p.H308H|HIF3A_ENST00000600383.1_Silent_p.H290H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Silent_p.H357H|HIF3A_ENST00000472815.1_Silent_p.H290H|HIF3A_ENST00000244303.6_Silent_p.H290H|HIF3A_ENST00000339613.2_Silent_p.H303H NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 359 NA cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CGGAGCAACACTCTCGCAGAC 0.652 NA C||| 1004 0.200479 0.0393 0.268 5008 , , NA 16562 0.3224 NA 0.1511 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 C ,,, 305,4101 166.2+/-197.5 10,285,1908 93 85 88 870,1071,1077,870 -4.1 1 19 dbSNP_107 88 1452,7148 278.2+/-293.3 134,1184,2982 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous HIF3A NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2 ,,, 144,1469,4890 TT,TC,CC 16.8837,6.9224,13.5091 ,,, 290/601,357/668,359/670,290/451 46823751 1757,11249 2203 4300 6503 SO:0001819 synonymous_variant AK027725 CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2 19q13 2013-05-21 ENSG00000124440 ENSG00000124440 64344 Basic helix-loop-helix proteins 15825 protein-coding gene gene with protein product 609976 NA 11573933, 11734856 Standard NM_152794 NA Approved IPAS, MOP7, PASD7, bHLHe17 uc002peh.3 Q9Y2N7 OTTHUMG00000141296 ENST00000377670.4:c.1077C>T chr19.hg19:g.46823751C>T NA B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2 hg19 CCDS12681.2 0.02 13.135682 ACAxTCT COVERED 429 0.19642857142857142 19 0.03861788617886179 81 0.22375690607734808 207 0.3618881118881119 122 0.16094986807387862 C 5.700 0.313625 0.10789 0.069224 0.168837 ENSG00000124440 ENST00000472815 . . . 4.47 -4.12 0.03916 . . . . . T 0.00012 0.0000 . . . 0.35830 P 0.174763 . . . . . . T 0.43343 -0.9397 3 . . . . 5.1733 0.15122 0.1579:0.2628:0.0:0.5793 rs3764610;rs60081426;rs3764610 . . . F 332 . . L + 1 0 HIF3A 51515591 0.464000 0.25807 0.961000 0.40146 0.668000 0.39293 -0.201000 0.09464 -0.393000 0.07739 -0.254000 0.11334 CTC NOVEL HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280556.3 2 24.981962 KEEP 0 0 0 83 3020 CC 1 1 0 + 17 60 612 0 0 40.789258 290 60 10937 497 ENST00000377670.4 0.055375 1 HIF3A 64344 __UNKNOWN__ __UNKNOWN__ 19 46834683 46834683 __UNKNOWN__ Intron SNP A A G rs11665853 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46834683A>G ENST00000377670.4 + 13 1861 HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000600383.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Intron|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000339613.2_Intron NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit NA NA cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366) cytosol (GO:0005829)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) ctgatcttctagtttcACTAA 0.458 NA A||| 827 0.165136 0.0083 0.2882 5008 , , NA 16078 0.3234 NA 0.1153 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027725 CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2 19q13 2013-05-21 ENSG00000124440 ENSG00000124440 64344 Basic helix-loop-helix proteins 15825 protein-coding gene gene with protein product 609976 NA 11573933, 11734856 Standard NM_152794 NA Approved IPAS, MOP7, PASD7, bHLHe17 uc002peh.3 Q9Y2N7 OTTHUMG00000141296 ENST00000377670.4:c.1830+153A>G chr19.hg19:g.46834683A>G NA B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2 hg19 CCDS12681.2 0.02 4.998894 TCTxGTT COVERED NOVEL HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000280556.3 6 11.133653 KEEP 0 0 0 37 1171 AA 1 1 0 + 10 60 375 0 0 26.826707 124 60 4663 218 ENST00000377670.4 0.074627 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 46918980 46918980 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46918980G>A NA NA CCDC8 (2139 upstream) : PNMAL1 (50767 downstream) NA NA NA tgaggcgggcggatcacctga 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.46918980G>A NA hg19 0.02 -0.052083 GGCxGAT UNCOVERED NOVEL 0 2 2.407924 KEEP 1 0 0 8 288 GG 0 0 0 2 60 78 0 0 7.109112 4 60 117 28 0.333333 0.036766 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 46926953 46926953 __UNKNOWN__ IGR SNP C C T rs892110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46926953C>T NA NA CCDC8 (10112 upstream) : PNMAL1 (42794 downstream) NA NA NA tcaagcgatccttccacctca 0.478 NA C||| 3169 0.632788 0.6331 0.6138 5008 , , NA 14478 0.6607 NA 0.5249 False NA ,,, NA NA NA 2504 0.728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.46926953C>T NA hg19 0.02 -0.017546 ATCxTTC UNCOVERED NOVEL 0 1 2.708848 KEEP 1 0 0 9 318 CC 0.99257 0 0 2 60 71 0 0 8.053996 0 0 0 14 1 0 PNMAL1 55228 __UNKNOWN__ __UNKNOWN__ 19 46969904 46969904 __UNKNOWN__ 3'UTR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46969904T>C ENST00000313683.10 - 0 3539 PNMAL1_ENST00000438932.2_3'UTR NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 NA NA cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) AAGAATCCAATTCACCCCTGG 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026026 CCDS33059.1, CCDS46124.1 19q13.32 2014-02-12 2012-02-09 ENSG00000182013 55228 Paraneoplastic Ma antigens 25578 protein-coding gene gene with protein product PNMA-like 1 NA 12477932 Standard NM_018215 NM_018215 NA Approved KIAA1183L, FLJ10781 uc002peq.4 Q86V59 ENST00000313683.10:c.*1914A>G chr19.hg19:g.46969904T>C NA A8K2F3|Q5U638|Q8N3H4|Q9NVE8 hg19 CCDS33059.1 0.02 9.039921 CAAxTCA COVERED NOVEL PNMAL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403929.1 0 21.357617 KEEP 0 0 0 71 2173 TT 1 1 0 - 8 60 277 0 0 16.775332 210 60 7573 357 ENST00000313683.10 0.036697 1 PNMAL1 55228 __UNKNOWN__ __UNKNOWN__ 19 46971363 46971363 __UNKNOWN__ 3'UTR SNP G G A rs3745787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46971363G>A ENST00000313683.10 - 0 2080 PNMAL1_ENST00000438932.2_3'UTR NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 NA NA cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CTGGTTACACGAGAGGAAGGC 0.567 NA G||| 3298 0.658546 0.4198 0.7349 5008 , , NA 17938 0.8026 NA 0.6372 False NA ,,, NA NA NA 2504 0.8006 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC026026 CCDS33059.1, CCDS46124.1 19q13.32 2014-02-12 2012-02-09 ENSG00000182013 55228 Paraneoplastic Ma antigens 25578 protein-coding gene gene with protein product PNMA-like 1 NA 12477932 Standard NM_018215 NM_018215 NA Approved KIAA1183L, FLJ10781 uc002peq.4 Q86V59 ENST00000313683.10:c.*455C>T chr19.hg19:g.46971363G>A NA A8K2F3|Q5U638|Q8N3H4|Q9NVE8 hg19 CCDS33059.1 0.02 1.71947 CACxAGA COVERED NOVEL PNMAL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403929.1 0 13.84319 KEEP 0 0 0 46 1537 GG 1 0.999956 0 - 5 60 170 0 0 10.794077 94 60 3441 176 ENST00000313683.10 0.050505 0.999956 PNMAL1 55228 __UNKNOWN__ __UNKNOWN__ 19 46971773 46971773 __UNKNOWN__ 3'UTR SNP T T G rs45575940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46971773T>G ENST00000313683.10 - 0 1670 PNMAL1_ENST00000438932.2_3'UTR NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 NA NA cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gacttggtacttcttccttgt 0.453 NA T||| 1271 0.253794 0.2027 0.1873 5008 , , NA 16248 0.3651 NA 0.2008 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 T , 863,3543 339.4+/-305.8 85,693,1425 153 141 145 , 1.4 0 19 dbSNP_127 145 1885,6715 335.3+/-321.3 208,1469,2623 no utr-3,utr-3 PNMAL1 NM_001103149.1,NM_018215.3 , 293,2162,4048 GG,GT,TT 21.9186,19.5869,21.1287 , , 46971773 2748,10258 2203 4300 6503 SO:0001624 3_prime_UTR_variant BC026026 CCDS33059.1, CCDS46124.1 19q13.32 2014-02-12 2012-02-09 ENSG00000182013 55228 Paraneoplastic Ma antigens 25578 protein-coding gene gene with protein product PNMA-like 1 NA 12477932 Standard NM_018215 NM_018215 NA Approved KIAA1183L, FLJ10781 uc002peq.4 Q86V59 ENST00000313683.10:c.*45A>C chr19.hg19:g.46971773T>G NA A8K2F3|Q5U638|Q8N3H4|Q9NVE8 hg19 CCDS33059.1 0.02 14.777497 TACxTCT COVERED NOVEL PNMAL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403929.1 4 33.703719 KEEP 0 0 0 112 3624 TT 1 1 0 - 11 60 395 0 0 22.985835 381 60 14080 618 ENST00000313683.10 0.028061 1 PNMAL1 55228 __UNKNOWN__ __UNKNOWN__ 19 46974307 46974307 __UNKNOWN__ 5'UTR SNP C C T rs3826852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46974307C>T ENST00000313683.10 - 0 291 PNMAL1_ENST00000438932.2_5'UTR|PNMAL1_ENST00000602246.1_5'UTR NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 NA NA cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) cggctctgaacctactatgtg 0.527 NA C||| 3769 0.752596 0.6687 0.7867 5008 , , NA 18776 0.8204 NA 0.7048 False NA ,,, NA NA NA 2504 0.8211 NA NA NA NA 0 C , 2833,1573 658.4+/-400.4 914,1005,284 55 55 55 , -3.4 0 19 dbSNP_107 55 6213,2387 694.0+/-404.7 2272,1669,359 no utr-5,utr-5 PNMAL1 NM_001103149.1,NM_018215.3 , 3186,2674,643 TT,TC,CC 27.7558,35.7013,30.4475 , , 46974307 9046,3960 2203 4300 6503 SO:0001623 5_prime_UTR_variant BC026026 CCDS33059.1, CCDS46124.1 19q13.32 2014-02-12 2012-02-09 ENSG00000182013 55228 Paraneoplastic Ma antigens 25578 protein-coding gene gene with protein product PNMA-like 1 NA 12477932 Standard NM_018215 NM_018215 NA Approved KIAA1183L, FLJ10781 uc002peq.4 Q86V59 ENST00000313683.10:c.-15G>A chr19.hg19:g.46974307C>T NA A8K2F3|Q5U638|Q8N3H4|Q9NVE8 hg19 CCDS33059.1 0.02 15.663873 GAAxCTA COVERED NOVEL PNMAL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403929.1 3 36.536607 KEEP 0 1 30 132 4613 CC 1 1 0 - 27 60 1001 0 0 72.55844 299 60 10813 645 ENST00000313683.10 0.082822 1 PNMAL2 57469 __UNKNOWN__ __UNKNOWN__ 19 46997522 46997522 __UNKNOWN__ Missense_Mutation SNP C C T rs3745790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:46997522C>T ENST00000599531.1 - 1 2233 c.1201G>A c.(1201-1203)Gtc>Atc p.V401I PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 91 NA central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TTGCGCAGGACCACGGCGTCC 0.677 NA C||| 760 0.151757 0.1225 0.1441 5008 , , NA 13657 0.3353 NA 0.0775 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 C ,ILE/VAL 469,3433 23,423,1505 13 16 15 ,1201 2.6 0.5 19 dbSNP_107 15 757,7469 38,681,3394 yes intron,missense PNMAL2,LOC100506012 NM_001205281.1,NM_020709.1 ,29 61,1104,4899 TT,TC,CC 9.2025,12.0195,10.1088 ,possibly-damaging ,401/636 46997522 1226,10902 1951 4113 6064 SO:0001583 missense AB033009 CCDS59400.1 19q13.32 2014-02-12 2012-02-09 ENSG00000204851 ENSG00000204851 57469 Paraneoplastic Ma antigens 29206 protein-coding gene gene with protein product PNMA-like 2 NA 10574461 Standard NM_020709 NM_020709 NA Approved KIAA1183 uc002pes.2 Q9ULN7 ENST00000599531.1:c.1201G>A chr19.hg19:g.46997522C>T ENSP00000473036:p.Val401Ile NA C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1 hg19 CCDS59400.1 0.02 21.437505 GGAxCAC COVERED NOVEL PNMAL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466564.1 10 82.160651 KEEP 0 0 0 273 9556 CC 1 1 0 - 16 60 567 0 0 33.635986 502 60 18071 1034 ENST00000599531.1 0.030888 1 AP2S1 1175 __UNKNOWN__ __UNKNOWN__ 19 47342717 47342717 __UNKNOWN__ Intron SNP C C T rs312186 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:47342717C>T ENST00000263270.6 - 3 493 AP2S1_ENST00000601498.1_Intron|AP2S1_ENST00000599990.1_Intron|AP2S1_ENST00000601649.1_Intron|AP2S1_ENST00000597020.1_Intron|AP2S1_ENST00000352203.4_Intron|AP2S1_ENST00000593442.1_Intron NM_004069.3 NP_004060.2 P53680 AP2S1_HUMAN adaptor-related protein complex 2, sigma 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|regulation of endocytosis (GO:0030100)|synaptic transmission (GO:0007268)|viral process (GO:0016032) AP-2 adaptor complex (GO:0030122)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) central_nervous_system(1)|lung(1)|urinary_tract(1) 3 all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128) OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336) CCTCTCCCGCCGTACCTCCAC 0.612 NA C||| 1799 0.359225 0.413 0.3963 5008 , , NA 14053 0.503 NA 0.1282 False NA ,,, NA NA NA 2504 0.3497 NA NA NA NA 0 C , 1583,2823 493.2+/-362.6 311,961,931 161 145 150 , -3 0 19 dbSNP_79 150 1217,7383 245.7+/-274.4 82,1053,3165 no intron,intron AP2S1 NM_004069.3,NM_021575.2 , 393,2014,4096 TT,TC,CC 14.1512,35.9283,21.5285 , , 47342717 2800,10206 2203 4300 6503 SO:0001627 intron_variant AJ010148 CCDS12693.1, CCDS33062.1 19q13.2-q13.3 2014-02-04 ENSG00000042753 1175 565 protein-coding gene gene with protein product 602242 hypocalciuric hypercalcemia 3 (Oklahoma type) CLAPS2, HHC3 NA 9040778, 9767099, 23222959 Standard XM_005258500 NA Approved FBHOk, FBH3 uc002pft.1 P53680 ENST00000263270.6:c.267+4G>A chr19.hg19:g.47342717C>T NA B2R4Z4|O75977|Q6PK67 hg19 CCDS33062.1 0.02 2.196476 CGCxGTA COVERED NOVEL AP2S1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000466643.1 0 3.909749 KEEP 0 0 0 13 429 CC 0.994391 0.974032 0 - 10 60 365 0 0 29.86063 46 60 1657 78 ENST00000263270.6 0.178571 0.979526 AP2S1 1175 __UNKNOWN__ __UNKNOWN__ 19 47342867 47342867 __UNKNOWN__ Intron SNP A A C rs312185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:47342867A>C ENST00000263270.6 - 3 379 AP2S1_ENST00000601498.1_Intron|AP2S1_ENST00000599990.1_Intron|AP2S1_ENST00000601649.1_Intron|AP2S1_ENST00000597020.1_Intron|AP2S1_ENST00000352203.4_Missense_Mutation_p.I55S|AP2S1_ENST00000593442.1_Intron NM_004069.3 NP_004060.2 P53680 AP2S1_HUMAN adaptor-related protein complex 2, sigma 1 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|regulation of endocytosis (GO:0030100)|synaptic transmission (GO:0007268)|viral process (GO:0016032) AP-2 adaptor complex (GO:0030122)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) central_nervous_system(1)|lung(1)|urinary_tract(1) 3 all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128) OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336) AGCAACGGAGATTGCCAGGAC 0.547 NA C||| 2958 0.590655 0.6959 0.6239 5008 , , NA 18305 0.5952 NA 0.4066 False NA ,,, NA NA NA 2504 0.6094 NA NA NA NA 0 C , 2993,1413 464.0+/-353.7 1017,959,227 74 64 67 , -6.7 0 19 dbSNP_79 67 3645,4955 623.3+/-397.4 754,2137,1409 no intron,intron AP2S1 NM_004069.3,NM_021575.2 , 1771,3096,1636 CC,CA,AA 42.3837,32.0699,48.962 , , 47342867 6638,6368 2203 4300 6503 SO:0001627 intron_variant AJ010148 CCDS12693.1, CCDS33062.1 19q13.2-q13.3 2014-02-04 ENSG00000042753 1175 565 protein-coding gene gene with protein product 602242 hypocalciuric hypercalcemia 3 (Oklahoma type) CLAPS2, HHC3 NA 9040778, 9767099, 23222959 Standard XM_005258500 NA Approved FBHOk, FBH3 uc002pft.1 P53680 ENST00000263270.6:c.154-32T>G chr19.hg19:g.47342867A>C NA B2R4Z4|O75977|Q6PK67 hg19 CCDS33062.1 0.02 7.004924 GAGxTTG COVERED NOVEL AP2S1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000466643.1 0 19.857338 KEEP 0 0 0 66 2038 AA 1 1 0 - 10 60 385 0 0 26.588619 167 60 5877 315 ENST00000263270.6 0.056497 1 KPTN 11133 __UNKNOWN__ __UNKNOWN__ 19 47984119 47984119 __UNKNOWN__ Intron SNP C C G rs199781618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:47984119C>G ENST00000338134.3 - 6 633 KPTN_ENST00000536339.1_Intron|KPTN_ENST00000595484.1_Intron NM_007059.2 NP_008990.2 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) NA NA actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605) actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634) actin binding (GO:0003779) breast(1)|lung(3)|ovary(2)|pancreas(2) 8 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) ACCCCACCCCCGCTTAAGTCA 0.612 NA c||| 9 0.00179712 0.0 0.0 5008 , , NA 13392 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 56 62 60 NA NA 19 NA 47984119 1992 4168 6160 SO:0001627 intron_variant AF105369 CCDS42583.1 19q13.32 2014-08-13 2001-11-28 ENSG00000118162 ENSG00000118162 11133 6404 protein-coding gene gene with protein product 615620 kaptin (actin-binding protein) NA 10099934 Standard XM_005258467 NA Approved 2E4 uc002pgy.3 Q9Y664 OTTHUMG00000183443 ENST00000338134.3:c.526-29G>C chr19.hg19:g.47984119C>G NA B3KN86|B4DQ76|Q96GT1 hg19 CCDS42583.1 0.02 8.37628 CCCxGCT COVERED NOVEL KPTN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466672.2 1 19.260134 KEEP 0 0 0 64 2175 CC 1 1 0 - 10 60 357 0 0 22.282703 238 60 8589 392 ENST00000338134.3 0.040323 1 GLTSCR1 29998 __UNKNOWN__ __UNKNOWN__ 19 48182787 48182787 __UNKNOWN__ Silent SNP C C T rs4802382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48182787C>T ENST00000396720.3 + 6 554 c.360C>T c.(358-360)gcC>gcT p.A120A CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 120 NA breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CGCTGGAGGCCGAGGCTGAGC 0.736 NA c||| 1700 0.339457 0.4576 0.3127 5008 , , NA 12558 0.3254 NA 0.2485 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 14 17 16 NA NA 19 NA 48182787 689 1587 2276 SO:0001819 synonymous_variant AF182077 CCDS46134.1 19q13.3 2012-11-29 ENSG00000063169 ENSG00000063169 29998 4332 protein-coding gene gene with protein product 605690 NA 10708517 Standard NM_015711 NM_015711 NA Approved uc002phh.4 Q9NZM4 ENST00000396720.3:c.360C>T chr19.hg19:g.48182787C>T NA A8MW01 hg19 CCDS46134.1 0.02 2.104668 GGCxGAG COVERED NOVEL GLTSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465846.1 1 7.824671 KEEP 0 0 0 26 882 CC 0.999957 0.99895 0 + 4 60 144 0 0 9.463313 74 60 2616 138 ENST00000396720.3 0.051282 0.998993 GLTSCR1 29998 __UNKNOWN__ __UNKNOWN__ 19 48183771 48183771 __UNKNOWN__ Silent SNP C C T rs1035938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48183771C>T ENST00000396720.3 + 6 1538 c.1344C>T c.(1342-1344)agC>agT p.S448S CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 448 NA breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) AACCCATGAGCGTCCACCTCC 0.711 NA C||| 1734 0.346246 0.4781 0.317 5008 , , NA 12067 0.3214 NA 0.2545 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 GRCh37 CM052883 GLTSCR1 M rs1035938 C 1510,2392 286,938,727 19 24 22 1344 -2.1 1 19 dbSNP_86 22 1980,6080 270,1440,2320 yes coding-synonymous GLTSCR1 NM_015711.3 556,2378,3047 TT,TC,CC 24.5658,38.6981,29.1757 448/1561 48183771 3490,8472 1951 4030 5981 SO:0001819 synonymous_variant AF182077 CCDS46134.1 19q13.3 2012-11-29 ENSG00000063169 ENSG00000063169 29998 4332 protein-coding gene gene with protein product 605690 NA 10708517 Standard NM_015711 NM_015711 NA Approved uc002phh.4 Q9NZM4 ENST00000396720.3:c.1344C>T chr19.hg19:g.48183771C>T NA A8MW01 hg19 CCDS46134.1 0.02 24.005691 GAGxGTC COVERED NOVEL GLTSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465846.1 6 41.598268 KEEP 0 2 59 159 5438 CC 1 1 0 + 19 60 681 0 0 41.295944 533 60 18672 954 ENST00000396720.3 0.03442 1 GLTSCR1 29998 __UNKNOWN__ __UNKNOWN__ 19 48184474 48184474 __UNKNOWN__ Missense_Mutation SNP C C T rs3745762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48184474C>T ENST00000396720.3 + 6 2241 c.2047C>T c.(2047-2049)Ccc>Tcc p.P683S CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 683 NA P -> S (in dbSNP:rs3745762). breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GGGGCAGCCGCCCTCTGCCAC 0.731 NA C||| 1734 0.346246 0.4781 0.317 5008 , , NA 10675 0.3214 NA 0.2545 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 C SER/PRO 777,1685 98,581,552 2 2 2 2047 1.8 0.6 19 dbSNP_107 2 1019,4295 102,815,1740 yes missense GLTSCR1 NM_015711.3 74 200,1396,2292 TT,TC,CC 19.1758,31.5597,23.0967 probably-damaging 683/1561 48184474 1796,5980 1231 2657 3888 SO:0001583 missense AF182077 CCDS46134.1 19q13.3 2012-11-29 ENSG00000063169 ENSG00000063169 29998 4332 protein-coding gene gene with protein product 605690 NA 10708517 Standard NM_015711 NM_015711 NA Approved uc002phh.4 Q9NZM4 ENST00000396720.3:c.2047C>T chr19.hg19:g.48184474C>T ENSP00000379946:p.Pro683Ser NA A8MW01 hg19 CCDS46134.1 0.02 3.869958 CCGxCCT COVERED 690 0.3159340659340659 237 0.4817073170731707 97 0.26795580110497236 164 0.2867132867132867 192 0.2532981530343008 C 0.504 -0.869519 0.02570 0.315597 0.191758 ENSG00000063169 ENST00000396720 T 0.29142 1.58 3.98 1.84 0.25277 . . . . . T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 B 0.13594 0.008 B 0.12156 0.007 T 0.46898 -0.9158 8 0.36615 T 0.2 . 1.1554 0.01795 0.1785:0.4436:0.1729:0.205 rs3745762 683 Q9NZM4 GSCR1_HUMAN S 683 ENSP00000379946:P683S ENSP00000379946:P683S P + 1 0 GLTSCR1 52876286 0.017000 0.18338 0.560000 0.28344 0.253000 0.25986 0.274000 0.18680 1.012000 0.39366 0.561000 0.74099 CCC NOVEL GLTSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465846.1 2 14.145266 KEEP 0 0 0 47 1653 CC 1 1 0 + 5 60 178 0 0 10.688084 144 60 5321 259 ENST00000396720.3 0.033557 1 GLTSCR1 29998 __UNKNOWN__ __UNKNOWN__ 19 48198675 48198675 __UNKNOWN__ Missense_Mutation SNP A A G rs13346368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48198675A>G ENST00000396720.3 + 10 3324 c.3130A>G c.(3130-3132)Acc>Gcc p.T1044A CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1044 NA T -> A (in dbSNP:rs13346368). breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CAACCTCCCGACCCTGAATGT 0.667 NA A||| 1509 0.301318 0.3222 0.2983 5008 , , NA 9654 0.3185 NA 0.2525 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 0 A ALA/THR 1065,2803 163,739,1032 13 13 13 3130 -3.2 0.2 19 dbSNP_121 13 2038,6238 282,1474,2382 yes missense GLTSCR1 NM_015711.3 58 445,2213,3414 GG,GA,AA 24.6254,27.5336,25.5517 possibly-damaging 1044/1561 48198675 3103,9041 1934 4138 6072 SO:0001583 missense AF182077 CCDS46134.1 19q13.3 2012-11-29 ENSG00000063169 ENSG00000063169 29998 4332 protein-coding gene gene with protein product 605690 NA 10708517 Standard NM_015711 NM_015711 NA Approved uc002phh.4 Q9NZM4 ENST00000396720.3:c.3130A>G chr19.hg19:g.48198675A>G ENSP00000379946:p.Thr1044Ala NA A8MW01 hg19 CCDS46134.1 0.02 1.634164 CCGxCCC COVERED 600 0.27472527472527475 150 0.3048780487804878 90 0.24861878453038674 166 0.2902097902097902 194 0.2559366754617414 A 3.512 -0.099632 0.07010 0.275336 0.246254 ENSG00000063169 ENST00000396720 T 0.30981 1.51 3.35 -3.15 0.05233 . . . . . T 0.00012 0.0000 N 0.24115 0.695 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.42699 -0.9436 8 0.08599 T 0.76 . 5.3333 0.15944 0.2783:0.201:0.5207:0.0 rs13346368;rs61625955;rs13346368 1044 Q9NZM4 GSCR1_HUMAN A 1044 ENSP00000379946:T1044A ENSP00000379946:T1044A T + 1 0 GLTSCR1 52890487 0.000000 0.05858 0.168000 0.22838 0.416000 0.31233 -0.351000 0.07711 -0.371000 0.08004 0.260000 0.18958 ACC NOVEL GLTSCR1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465846.1 3 8.727203 KEEP 0 0 0 29 950 AA 0.999997 0.999675 0 + 5 60 177 0 0 11.804021 81 60 2876 154 ENST00000396720.3 0.05814 0.999678 TPRX1 284355 __UNKNOWN__ __UNKNOWN__ 19 48305357 48305357 __UNKNOWN__ Missense_Mutation SNP G G A rs77144450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48305357G>A ENST00000322175.3 - 2 1066 c.911C>T c.(910-912)cCg>cTg p.P304L TPRX1_ENST00000543508.1_Missense_Mutation_p.P294L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P401L NM_198479.2 NP_940881.2 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 304 Gly-rich. NA P -> L (in Ref. 1; BAC05130). {ECO:0000305}. nucleus (GO:0005634) DNA binding (GO:0003677) endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) gcctAAAATCGGGGCTAGGCC 0.657 NA G||| 296 0.0591054 0.0008 0.0317 5008 , , NA 15558 0.13 NA 0.0408 False NA ,,, NA NA NA 2504 0.1033 NA NA NA Esophageal Squamous(123;175 2281 3051 32395) NA 0 G LEU/PRO 42,4364 42.3+/-75.8 0,42,2161 25 26 25 911 0.9 0 19 dbSNP_131 25 402,8198 123.1+/-182.0 12,378,3910 yes missense TPRX1 NM_198479.2 98 12,420,6071 AA,AG,GG 4.6744,0.9532,3.4138 probably-damaging 304/412 48305357 444,12562 2203 4300 6503 SO:0001583 missense CCDS33066.1 19q13.33 2011-07-08 ENSG00000178928 ENSG00000178928 284355 Homeoboxes / PRD class 32174 protein-coding gene gene with protein product 611166 NA Standard NM_198479 XM_005258788 NA Approved FLJ40321 uc002php.2 Q8N7U7 ENST00000322175.3:c.911C>T chr19.hg19:g.48305357G>A ENSP00000323455:p.Pro304Leu NA A5D8Y3|B2RPL5 hg19 CCDS33066.1 0.02 4.012561 ATCxGGG COVERED 107 0.04899267399267399 0 0.0 14 0.03867403314917127 63 0.11013986013986014 30 0.0395778364116095 g 11.96 1.794615 0.31777 0.009532 0.046744 ENSG00000178928 ENST00000322175;ENST00000535759;ENST00000543508 D;D 0.93712 -1.97;-3.27 0.938 0.938 0.19500 . . . . . T 0.06371 0.0164 N 0.08118 0 0.80722 P 0.0 P 0.50272 0.933 B 0.26969 0.075 T 0.59537 -0.7436 8 0.59425 D 0.04 . 5.2106 0.15314 0.0:0.0:1.0:0.0 . 304 Q8N7U7 TPRX1_HUMAN L 304;401;294 ENSP00000323455:P304L;ENSP00000438832:P401L ENSP00000323455:P304L P - 2 0 TPRX1 52997169 0.007000 0.16637 0.001000 0.08648 0.003000 0.03518 0.975000 0.29449 0.811000 0.34303 0.491000 0.48974 CCG NOVEL TPRX1-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000409868.1 1 7.223101 KEEP 0 0 0 24 830 GG 0.999909 0.999909 0 - 7 60 258 0 0 17.008179 136 60 4734 201 ENST00000322175.3 0.048951 1 PLA2G4C 8605 __UNKNOWN__ __UNKNOWN__ 19 48608598 48608598 __UNKNOWN__ Missense_Mutation SNP C C G rs2307279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48608598C>G ENST00000599111.1 - 3 443 c.142G>C c.(142-144)Gct>Cct p.A48P PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A38P|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A38P|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A38P NM_001159322.1|NM_003706.2 NP_001152794.1|NP_003697.2 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 38 PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}. NA arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654) calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) ACCTCATCAGCCTCAATCCTT 0.557 NA C||| 1291 0.257788 0.5779 0.098 5008 , , NA 14764 0.2698 NA 0.0497 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 C PRO/ALA,PRO/ALA,PRO/ALA 2130,2276 577.8+/-384.5 534,1062,607 105 112 110 142,112,112 0.3 0 19 dbSNP_100 110 382,8218 123.9+/-182.7 9,364,3927 yes missense,missense,missense PLA2G4C NM_001159322.1,NM_001159323.1,NM_003706.2 27,27,27 543,1426,4534 GG,GC,CC 4.4419,48.3432,19.3142 probably-damaging,probably-damaging,probably-damaging 48/552,38/528,38/542 48608598 2512,10494 2203 4300 6503 SO:0001583 missense AF065214 CCDS12710.1, CCDS54286.1, CCDS59403.1 19q13.3 2008-09-19 8605 3.1.1.4 9037 protein-coding gene gene with protein product 603602 NA 9705332 Standard NM_003706 NA Approved cPLA2-gamma uc002phx.3 Q9UP65 ENST00000599111.1:c.142G>C chr19.hg19:g.48608598C>G ENSP00000472546:p.Ala48Pro NA B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68 hg19 CCDS59403.1 0.02 4.410691 CAGxCTC COVERED 533 0.24404761904761904 293 0.5955284552845529 42 0.11602209944751381 159 0.27797202797202797 39 0.051451187335092345 C 9.081 0.999212 0.19121 0.483432 0.044419 ENSG00000105499 ENST00000354276;ENST00000413144 T;T 0.04502 3.61;3.61 2.72 0.3 0.15776 Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2); 0.925114 0.08988 N 0.864910 T 0.00012 0.0000 N 0.16368 0.405 0.80722 P 0.0 P;B;P 0.41159 0.74;0.086;0.584 B;B;B 0.39904 0.313;0.03;0.182 T 0.13899 -1.0492 9 0.31617 T 0.26 -2.4264 3.7445 0.08542 0.0:0.5823:0.2581:0.1596 rs2307279;rs3760816;rs52828945;rs2307279 48;38;38 B4DI40;Q8WWC5;Q9UP65 .;.;PA24C_HUMAN P 38 ENSP00000346228:A38P;ENSP00000400036:A38P ENSP00000346228:A38P A - 1 0 PLA2G4C 53300410 0.004000 0.15560 0.000000 0.03702 0.082000 0.17680 1.035000 0.30216 0.026000 0.15269 0.205000 0.17691 GCT NOVEL PLA2G4C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465548.1 0 6.019661 KEEP 0 0 0 20 709 CC 0.999863 0.999856 0 - 6 60 220 0 0 14.753159 104 60 3865 160 ENST00000599111.1 0.054545 0.999993 PLA2G4C 8605 __UNKNOWN__ __UNKNOWN__ 19 48609715 48609715 __UNKNOWN__ Intron SNP C C T rs380359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48609715C>T ENST00000599111.1 - 2 371 PLA2G4C_ENST00000413144.2_Intron|PLA2G4C_ENST00000599921.1_Intron|PLA2G4C_ENST00000354276.3_Intron NM_001159322.1|NM_003706.2 NP_001152794.1|NP_003697.2 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) NA NA arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654) calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TCTTGACACTCACTATGCATT 0.517 NA C||| 1310 0.261581 0.5915 0.0994 5008 , , NA 19084 0.2698 NA 0.0497 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 C ,, 681,703 171,339,182 156 126 135 ,, -0.7 0 19 dbSNP_80 135 145,3037 5,135,1451 no intron,intron,intron PLA2G4C NM_001159322.1,NM_001159323.1,NM_003706.2 ,, 176,474,1633 TT,TC,CC 4.5569,49.2052,18.0902 ,, ,, 48609715 826,3740 692 1591 2283 SO:0001627 intron_variant AF065214 CCDS12710.1, CCDS54286.1, CCDS59403.1 19q13.3 2008-09-19 8605 3.1.1.4 9037 protein-coding gene gene with protein product 603602 NA 9705332 Standard NM_003706 NA Approved cPLA2-gamma uc002phx.3 Q9UP65 ENST00000599111.1:c.69+63G>A chr19.hg19:g.48609715C>T NA B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68 hg19 CCDS59403.1 0.02 6.064624 ACTxACT COVERED NOVEL PLA2G4C-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465548.1 0 8.426604 KEEP 0 0 0 28 950 CC 0.999997 0.999997 0 - 10 60 342 0 0 22.451733 161 60 6165 253 ENST00000599111.1 0.05848 1 LIG1 3978 __UNKNOWN__ __UNKNOWN__ 19 48626604 48626604 __UNKNOWN__ Intron SNP G G A rs3731007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48626604G>A ENST00000263274.7 - 22 2424 LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Intron|CTC-453G23.5_ENST00000596563.1_RNA|CTC-453G23.5_ENST00000596839.1_RNA NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent NA NA anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GAAGAGAGATGAGACATCTTT 0.562 NA Nucleotide excision repair (NER) G||| 960 0.191693 0.3631 0.0965 5008 , , NA 18779 0.1855 NA 0.0696 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 G 1460,2946 250,960,993 20 23 22 -4.8 0 19 dbSNP_107 22 462,8138 12,438,3850 no intron LIG1 NM_000234.1 262,1398,4843 AA,AG,GG 5.3721,33.1366,14.7778 48626604 1922,11084 2203 4300 6503 SO:0001627 intron_variant CCDS12711.1, CCDS74409.1, CCDS74410.1 19q13.2-q13.3 2014-09-17 ENSG00000105486 3978 6.5.1.1 6598 protein-coding gene gene with protein product 126391 NA Standard NM_000234 XM_005258934 NA Approved uc002pia.1 P18858 ENST00000263274.7:c.2005-29C>T chr19.hg19:g.48626604G>A NA B2RAI8|Q2TB12|Q32P23 hg19 CCDS12711.1 0.02 6.093966 GATxAGA COVERED NOVEL LIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465575.1 1 13.543507 KEEP 0 0 0 45 1542 GG 1 1 0 - 6 60 218 0 0 13.258813 173 60 6572 285 ENST00000263274.7 0.03352 1 LIG1 3978 __UNKNOWN__ __UNKNOWN__ 19 48668914 48668914 __UNKNOWN__ Intron SNP T T C rs439132 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48668914T>C ENST00000263274.7 - 2 363 LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000599165.1_Intron NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent NA NA anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283) chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GTTGAGGTGATTGGTTGTGCA 0.403 NA Nucleotide excision repair (NER) T||| 754 0.150559 0.3033 0.0591 5008 , , NA 17138 0.1806 NA 0.0169 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 T 355,1029 47,261,384 112 98 102 -7.5 0 19 dbSNP_80 102 28,3154 0,28,1563 no intron LIG1 NM_000234.1 47,289,1947 CC,CT,TT 0.8799,25.6503,8.3881 48668914 383,4183 692 1591 2283 SO:0001627 intron_variant CCDS12711.1, CCDS74409.1, CCDS74410.1 19q13.2-q13.3 2014-09-17 ENSG00000105486 3978 6.5.1.1 6598 protein-coding gene gene with protein product 126391 NA Standard NM_000234 XM_005258934 NA Approved uc002pia.1 P18858 ENST00000263274.7:c.57-34A>G chr19.hg19:g.48668914T>C NA B2RAI8|Q2TB12|Q32P23 hg19 CCDS12711.1 0.02 11.232237 TGAxTGG COVERED NOVEL LIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465575.1 1 28.283861 KEEP 0 0 0 94 2936 TT 1 1 0 - 9 60 347 0 0 21.968207 254 60 9107 455 ENST00000263274.7 0.034221 1 CARD8 22900 __UNKNOWN__ __UNKNOWN__ 19 48722121 48722121 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:48722121C>T ENST00000519940.1 - 12 1652 CARD8_ENST00000520015.1_Intron|CARD8_ENST00000520753.1_Intron|CARD8_ENST00000357778.5_Intron|CARD8_ENST00000521613.1_Intron|CARD8_ENST00000359009.4_Intron|CARD8_ENST00000391898.3_Intron|CARD8_ENST00000447740.2_Intron|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Intron Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 NA NA activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718) cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634) cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CTCGCCCACTCACCTACCTGG 0.433 NA NA NA NA NA NA NA NA NA NA NA 0 151 142 145 NA NA 19 NA 48722121 2203 4300 6503 SO:0001627 intron_variant AB023172 CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1 19q13.33 2011-05-24 ENSG00000105483 ENSG00000105483 22900 17057 protein-coding gene gene with protein product 609051 NA 10231032, 11408476 Standard NM_014959 NM_001184900 NA Approved TUCAN, KIAA0955, CARDINAL, NDPP, Dakar uc010xzj.2 Q9Y2G2 OTTHUMG00000165047 ENST00000519940.1:c.1303+6G>A chr19.hg19:g.48722121C>T NA B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82 hg19 CCDS54289.1 0.02 5.411001 ACTxACC COVERED NOVEL CARD8-009 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000381562.1 3 9.630096 KEEP 0 0 0 32 1087 CC 0.999997 0.999997 0 - 7 60 235 0 0 14.249802 159 60 5914 235 ENST00000519940.1 0.042169 1 FAM83E 54854 __UNKNOWN__ __UNKNOWN__ 19 49116359 49116359 __UNKNOWN__ Missense_Mutation SNP T T C rs447802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49116359T>C ENST00000263266.3 - 1 460 c.271A>G c.(271-273)Acc>Gcc p.T91A NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 91 NA T -> A (in dbSNP:rs447802). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TCCACATCGGTGGTGGTGGCT 0.682 NA C||| 2759 0.550919 0.7277 0.4986 5008 , , NA 12886 0.7431 NA 0.2614 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 12 21 18 NA NA 19 NA 49116359 2090 4216 6306 SO:0001583 missense AK000207 CCDS42587.1 19q13.33 2013-10-24 ENSG00000105523 ENSG00000105523 54854 25972 protein-coding gene gene with protein product NA Standard NM_017708 NM_017708 NA Approved FLJ20200 uc002pjn.2 Q2M2I3 OTTHUMG00000183315 ENST00000263266.3:c.271A>G chr19.hg19:g.49116359T>C ENSP00000263266:p.Thr91Ala NA Q9NXK1 hg19 CCDS42587.1 0.02 3.67842 CGGxGGT COVERED 1077 0.49313186813186816 343 0.6971544715447154 160 0.4419889502762431 389 0.6800699300699301 185 0.24406332453825857 C 2.961 -0.214627 0.06101 . . ENSG00000105523 ENST00000263266 T 0.10668 2.85 3.79 -5.7 0.02421 . 1.732010 0.03225 N 0.178172 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.42565 -0.9444 9 0.02654 T 1 -0.2116 10.3255 0.43790 0.0:0.5744:0.1163:0.3093 rs447802;rs52796733;rs447802 91 Q2M2I3 FA83E_HUMAN A 91 ENSP00000263266:T91A ENSP00000263266:T91A T - 1 0 FAM83E 53808171 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.799000 0.01746 -1.443000 0.01953 -1.874000 0.00550 ACC NOVEL FAM83E-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466145.1 0 14.728359 KEEP 0 0 0 49 1379 TT 1 1 0 - 5 60 179 0 0 10.815685 142 60 4790 243 ENST00000263266.3 0.034014 1 FUT2 2524 __UNKNOWN__ __UNKNOWN__ 19 49203992 49203992 __UNKNOWN__ Intron SNP G G A rs60686256 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49203992G>A ENST00000425340.2 + 2 115 FUT2_ENST00000391876.4_Intron NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) NA NA carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) aaagaggctcgttcttgtctt 0.453 NA g||| 920 0.183706 0.289 0.2104 5008 , , NA 16931 0.131 NA 0.168 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33069.1 19q13.33 2014-07-19 ENSG00000176920 ENSG00000176920 2524 Fucosyltransferases 4013 protein-coding gene gene with protein product alpha (1,2) fucosyltransferase, galactoside 2-alpha-L-fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, alpha(1,2)FT2, secretor factor, secretor blood group alpha-2-fucosyltransferase 182100 SE NA 1763885 Standard NM_000511 NM_000511 NA Approved sej, Se2, SEC2 uc010emc.3 Q10981 OTTHUMG00000164427 ENST00000425340.2:c.-2-2220G>A chr19.hg19:g.49203992G>A NA Q0VAG5|Q14338|Q5D0G2 hg19 CCDS33069.1 0.02 24.45389 CTCxTTC COVERED NOVEL FUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378731.2 4 21.601811 KEEP 1 1 32 83 2818 GG 1 1 0 + 22 60 827 0 0 52.742656 549 60 17559 813 ENST00000425340.2 0.038529 1 FUT2 2524 __UNKNOWN__ __UNKNOWN__ 19 49204021 49204021 __UNKNOWN__ Intron SNP A A C rs57940795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49204021A>C ENST00000425340.2 + 2 115 FUT2_ENST00000391876.4_Intron NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) NA NA carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) ttgaagaatgaatgaaacctt 0.463 NA a||| 1058 0.211262 0.3896 0.2147 5008 , , NA 16075 0.131 NA 0.168 False NA ,,, NA NA NA 2504 0.0951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33069.1 19q13.33 2014-07-19 ENSG00000176920 ENSG00000176920 2524 Fucosyltransferases 4013 protein-coding gene gene with protein product alpha (1,2) fucosyltransferase, galactoside 2-alpha-L-fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, alpha(1,2)FT2, secretor factor, secretor blood group alpha-2-fucosyltransferase 182100 SE NA 1763885 Standard NM_000511 NM_000511 NA Approved sej, Se2, SEC2 uc010emc.3 Q10981 OTTHUMG00000164427 ENST00000425340.2:c.-2-2191A>C chr19.hg19:g.49204021A>C NA Q0VAG5|Q14338|Q5D0G2 hg19 CCDS33069.1 0.02 32.903779 ATGxATG COVERED NOVEL FUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378731.2 8 28.759449 KEEP 1 1 38 109 3378 AA 1 1 0 + 28 60 1027 0 0 65.004938 704 60 25003 1073 ENST00000425340.2 0.038251 1 FUT2 2524 __UNKNOWN__ __UNKNOWN__ 19 49204394 49204394 __UNKNOWN__ Intron SNP A A G rs556414788|rs73942308 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49204394A>G ENST00000425340.2 + 2 115 FUT2_ENST00000391876.4_Intron NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) NA NA carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) agAGCTCACTAttttcttttc 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33069.1 19q13.33 2014-07-19 ENSG00000176920 ENSG00000176920 2524 Fucosyltransferases 4013 protein-coding gene gene with protein product alpha (1,2) fucosyltransferase, galactoside 2-alpha-L-fucosyltransferase 2, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2, alpha(1,2)FT2, secretor factor, secretor blood group alpha-2-fucosyltransferase 182100 SE NA 1763885 Standard NM_000511 NM_000511 NA Approved sej, Se2, SEC2 uc010emc.3 Q10981 OTTHUMG00000164427 ENST00000425340.2:c.-2-1818A>G chr19.hg19:g.49204394A>G NA Q0VAG5|Q14338|Q5D0G2 hg19 CCDS33069.1 0.02 13.180999 ACTxTTT COVERED NOVEL FUT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000378731.2 8 32.757746 KEEP 0 0 0 109 3316 AA 1 1 0 + 10 60 372 0 0 22.9143 292 70 10447 504 ENST00000425340.2 0.033113 1 IZUMO1 284359 __UNKNOWN__ __UNKNOWN__ 19 49247898 49247898 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49247898G>A ENST00000332955.2 - 4 858 NM_182575.2 NP_872381.2 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 NA NA cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036) acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TCAGGAAAGGGCGCTACAACT 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034769 CCDS12732.1 19q13.33 2014-07-23 ENSG00000182264 ENSG00000182264 284359 - 28539 protein-coding gene gene with protein product oocyte binding/fusion factor 609278 NA 15759005, 18952059, 19658160, 22957301 Standard NM_182575 NM_182575 NA Approved IZUMO, MGC34799, OBF uc002pkj.3 Q8IYV9 OTTHUMG00000183324 ENST00000332955.2:c.311-102C>T chr19.hg19:g.49247898G>A NA Q6Q8P6|Q6Q8P7 hg19 CCDS12732.1 0.02 1.88063 AGGxCGC COVERED NOVEL IZUMO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466189.1 1 4.815726 KEEP 0 0 0 16 565 GG 0.997832 0.997713 0 - 4 60 142 0 0 9.004951 86 60 3179 114 ENST00000332955.2 0.044444 0.999881 NUCB1 4924 __UNKNOWN__ __UNKNOWN__ 19 49421903 49421903 __UNKNOWN__ Intron SNP A A G rs2287835 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49421903A>G ENST00000405315.4 + 8 1091 NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Intron|NUCB1_ENST00000263273.5_Intron|NUCB1_ENST00000485798.1_Intron NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 NA NA endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) calcium ion binding (GO:0005509)|DNA binding (GO:0003677) cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) ACCCCACATCAGCCCAAAATT 0.557 NA A||| 1250 0.249601 0.2186 0.2219 5008 , , NA 19745 0.504 NA 0.1899 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC002356 CCDS12740.1 19q13.33 2013-01-10 ENSG00000104805 ENSG00000104805 4924 EF-hand domain containing 8043 protein-coding gene gene with protein product 601323 NA 8661046 Standard NM_006184 NM_006184 NA Approved NUC, Calnuc uc002plb.4 Q02818 OTTHUMG00000152514 ENST00000405315.4:c.758-80A>G chr19.hg19:g.49421903A>G NA B2RD64|Q15838|Q7Z4J7|Q9BUR1 hg19 CCDS12740.1 0.02 9.435748 ATCxGCC COVERED NOVEL NUCB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000326545.2 2 25.877309 KEEP 0 0 0 86 2715 AA 1 1 0 + 10 60 343 0 0 20.257229 276 60 10281 478 ENST00000405315.4 0.034965 1 GYS1 2997 __UNKNOWN__ __UNKNOWN__ 19 49496494 49496494 __UNKNOWN__ 5'UTR SNP G G A rs2287754 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49496494G>A ENST00000263276.6 - 0 73 GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000323798.3_5'UTR|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000540532.1_5'UTR|GYS1_ENST00000541188.1_5'UTR NM_001161587.1 NP_001155059.1 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020) glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CAAGACGCTCGGCTTCCTATT 0.657 NA OREG0025612 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 315 0.0628994 0.0333 0.1138 5008 , , NA 13991 0.0744 NA 0.0924 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS12747.1, CCDS54292.1 19q13.3 2013-02-22 ENSG00000104812 ENSG00000104812 2997 2.4.1.11 Glycosyltransferase group 1 domain containing 4706 protein-coding gene gene with protein product 138570 GYS NA Standard NM_002103 NM_002103 NA Approved GSY uc002plp.3 P13807 OTTHUMG00000150723 ENST00000263276.6:c.-125C>T chr19.hg19:g.49496494G>A 962 Q9BTT9 hg19 CCDS54292.1 0.02 6.444667 CTCxGCT COVERED NOVEL GYS1-006 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319796.1 2 39.72511 KEEP 0 0 0 132 4540 GG 1 1 0 - 7 60 259 0 0 16.132527 189 60 6728 429 ENST00000263276.6 0.035714 1 RUVBL2 10856 __UNKNOWN__ __UNKNOWN__ 19 49497022 49497022 __UNKNOWN__ 5'UTR SNP A A C rs3764616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49497022A>C ENST00000595090.1 + 0 318 RUVBL2_ENST00000601968.1_5'UTR NM_006666.1 NP_006657.1 Q9Y230 RUVB2_HUMAN RuvB-like AAA ATPase 2 NA NA ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812) ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082) large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) AGGGCGGGGCATAAAGTCCCG 0.572 NA C||| 415 0.0828674 0.1082 0.1153 5008 , , NA 12355 0.0744 NA 0.0924 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF155138 CCDS42588.1 19q13.3 2013-09-12 2013-09-12 10856 INO80 complex subunits, ATPases / AAA-type 10475 protein-coding gene gene with protein product reptin, INO80 complex subunit J 604788 RuvB (E coli homolog)-like 2, RuvB-like 2 (E. coli) NA 10428817, 10998447 Standard XM_005258426 NA Approved RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2 uc002plr.1 Q9Y230 ENST00000595090.1:c.-147A>C chr19.hg19:g.49497022A>C NA B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361 hg19 CCDS42588.1 0.02 2.440085 GGCxTAA COVERED NOVEL RUVBL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466235.1 0 5.711733 KEEP 0 0 0 19 523 AA 0.99986 0.963639 0 + 4 60 155 0 0 11.320446 47 60 1661 76 ENST00000595090.1 0.078431 0.963774 TRPM4 54795 __UNKNOWN__ __UNKNOWN__ 19 49661547 49661547 __UNKNOWN__ Intron SNP A A G rs11882563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49661547A>G ENST00000252826.5 + 2 218 TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 NA NA calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CTGACCCCAGAGGGTCCGCGG 0.642 NA A||| 1120 0.223642 0.3359 0.2651 5008 , , NA 14018 0.2163 NA 0.1372 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 A , 1355,3051 435.7+/-344.4 210,935,1058 76 83 80 , 2.5 0.1 19 dbSNP_120 80 1157,7443 232.2+/-265.9 98,961,3241 no intron,intron TRPM4 NM_001195227.1,NM_017636.3 , 308,1896,4299 GG,GA,AA 13.4535,30.7535,19.3142 , , 49661547 2512,10494 2203 4300 6503 SO:0001627 intron_variant AK000048 CCDS33073.1, CCDS56098.1 19q13.3 2011-12-14 ENSG00000130529 54795 Voltage-gated ion channels / Transient receptor potential cation channels 17993 protein-coding gene gene with protein product 606936 NA 11535825, 16382100 Standard NM_017636 NM_017636 NA Approved FLJ20041 uc002pmw.3 Q8TD43 ENST00000252826.5:c.92+31A>G chr19.hg19:g.49661547A>G NA A2RU25|Q7Z5D9|Q96L84|Q9NXV1 hg19 CCDS33073.1 0.02 6.469927 CAGxGGG COVERED NOVEL TRPM4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465543.2 0 14.809354 KEEP 0 2 59 70 2194 AA 1 1 0 + 16 60 579 0 0 41.588024 177 60 6468 334 ENST00000252826.5 0.082902 1 TRPM4 54795 __UNKNOWN__ __UNKNOWN__ 19 49675233 49675233 __UNKNOWN__ Intron SNP C C T rs2287923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49675233C>T ENST00000252826.5 + 9 1176 TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 NA NA calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGGATGGAGGCGGGCTAGGGA 0.557 NA C||| 458 0.0914537 0.1059 0.0418 5008 , , NA 17872 0.1617 NA 0.0487 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 C , 471,3935 218.1+/-236.3 25,421,1757 48 56 53 , -3.5 0 19 dbSNP_100 53 362,8238 119.7+/-179.0 12,338,3950 no intron,intron TRPM4 NM_001195227.1,NM_017636.3 , 37,759,5707 TT,TC,CC 4.2093,10.69,6.4047 , , 49675233 833,12173 2203 4300 6503 SO:0001627 intron_variant AK000048 CCDS33073.1, CCDS56098.1 19q13.3 2011-12-14 ENSG00000130529 54795 Voltage-gated ion channels / Transient receptor potential cation channels 17993 protein-coding gene gene with protein product 606936 NA 11535825, 16382100 Standard NM_017636 NM_017636 NA Approved FLJ20041 uc002pmw.3 Q8TD43 ENST00000252826.5:c.1051-33C>T chr19.hg19:g.49675233C>T NA A2RU25|Q7Z5D9|Q96L84|Q9NXV1 hg19 CCDS33073.1 0.02 1.78784 AGGxGGG COVERED NOVEL TRPM4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465543.2 0 3.310581 KEEP 0 0 0 11 380 CC 0.993072 0.992296 0 + 6 60 176 0 0 11.243437 74 60 2714 109 ENST00000252826.5 0.075 0.999218 TRPM4 54795 __UNKNOWN__ __UNKNOWN__ 19 49699866 49699866 __UNKNOWN__ Silent SNP C C T rs3745301 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49699866C>T ENST00000252826.5 + 17 2506 c.2380C>T c.(2380-2382)Ctg>Ttg p.L794L TRPM4_ENST00000355712.5_Silent_p.L440L|TRPM4_ENST00000427978.2_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 794 NA calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCTGCTGTTCCTGCTGCTTTT 0.672 NA C||| 563 0.11242 0.1384 0.0648 5008 , , NA 12696 0.1875 NA 0.0577 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C , 457,3881 15,427,1727 29 24 26 ,2380 3.8 1 19 dbSNP_107 26 350,8160 7,336,3912 no intron,coding-synonymous TRPM4 NM_001195227.1,NM_017636.3 , 22,763,5639 TT,TC,CC 4.1128,10.5348,6.2811 , ,794/1215 49699866 807,12041 2169 4255 6424 SO:0001819 synonymous_variant AK000048 CCDS33073.1, CCDS56098.1 19q13.3 2011-12-14 ENSG00000130529 54795 Voltage-gated ion channels / Transient receptor potential cation channels 17993 protein-coding gene gene with protein product 606936 NA 11535825, 16382100 Standard NM_017636 NM_017636 NA Approved FLJ20041 uc002pmw.3 Q8TD43 ENST00000252826.5:c.2380C>T chr19.hg19:g.49699866C>T NA A2RU25|Q7Z5D9|Q96L84|Q9NXV1 hg19 CCDS33073.1 0.02 23.871652 TTCxTGC COVERED NOVEL TRPM4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465543.2 0 37.619586 KEEP 0 0 0 125 4368 CC 1 1 0 + 21 60 799 0 0 52.057268 481 60 18143 787 ENST00000252826.5 0.041833 1 SLC6A16 28968 __UNKNOWN__ __UNKNOWN__ 19 49812403 49812403 __UNKNOWN__ Intron SNP G G T rs2278405 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49812403G>T ENST00000335875.4 - 7 1229 SLC6A16_ENST00000454748.3_Intron NM_014037.2 NP_054756.2 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 NA NA neurotransmitter transport (GO:0006836) integral component of membrane (GO:0016021)|intracellular (GO:0005622) neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328) NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GCATAAGGGGGTTGTAAAAGA 0.418 NA G||| 1528 0.305112 0.3396 0.2248 5008 , , NA 22476 0.3383 NA 0.1958 False NA ,,, NA NA NA 2504 0.3937 NA NA NA NA 0 G 1147,2619 179,789,915 102 91 94 -2.1 0 19 dbSNP_100 94 1750,6470 197,1356,2557 no intron SLC6A16 NM_014037.2 376,2145,3472 TT,TG,GG 21.2895,30.4567,24.1699 49812403 2897,9089 1883 4110 5993 SO:0001627 intron_variant AF265578 CCDS42590.1 19q13.33 2013-05-22 ENSG00000063127 ENSG00000063127 28968 Solute carriers 13622 protein-coding gene gene with protein product NTT5 protein 607972 solute carrier family 6 (neurotransmitter transporter), member 16 NA 10471414, 11112352 Standard NM_014037 XM_005258820 NA Approved NTT5 uc002pmz.3 Q9GZN6 ENST00000335875.4:c.988-29C>A chr19.hg19:g.49812403G>T NA Q8IYV4|Q9Y5I9 hg19 CCDS42590.1 0.02 4.00394 GGGxTTG COVERED NOVEL SLC6A16-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465503.2 2 4.213794 KEEP 0 0 0 14 497 GG 0.995343 0.995343 0 - 5 60 180 0 0 10.945423 140 60 5171 172 ENST00000335875.4 0.034483 1 TEAD2 8463 __UNKNOWN__ __UNKNOWN__ 19 49858538 49858538 __UNKNOWN__ Intron SNP C C T rs373245755 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49858538C>T ENST00000377214.4 - 4 840 TEAD2_ENST00000311227.2_Intron|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000601519.1_Intron|TEAD2_ENST00000593945.1_Intron|TEAD2_ENST00000598810.1_Intron|TEAD2_ENST00000598397.1_Intron Q15562 TEAD2_HUMAN TEA domain family member 2 NA NA gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CCCCTTTGCCCCCACGTCCCA 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 C 1,4405 2.1+/-5.4 0,1,2202 67 63 64 3.1 0 19 64 0,8600 0,0,4300 no intron TEAD2 NM_003598.1 0,1,6502 TT,TC,CC 0.0,0.0227,0.0077 49858538 1,13005 2203 4300 6503 SO:0001627 intron_variant X94440 CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1 19q13.3 2008-07-22 8463 11715 protein-coding gene gene with protein product 601729 NA 9889009, 8702974 Standard NM_003598 NM_003598 NA Approved TEF-4, ETF, TEF4 uc031rls.1 Q15562 ENST00000377214.4:c.477+21G>A chr19.hg19:g.49858538C>T NA B4DTJ6|M0R1T9|Q8NA25|Q96IG3 hg19 CCDS58671.1 0.02 9.229413 GCCxCCA COVERED NOVEL TEAD2-002 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000465466.1 5 27.383993 KEEP 0 0 0 91 3219 CC 1 1 0 - 11 60 406 0 0 26.912265 208 60 7676 423 ENST00000377214.4 0.050228 1 DKKL1 27120 __UNKNOWN__ __UNKNOWN__ 19 49869051 49869051 __UNKNOWN__ Splice_Site SNP T T G rs2303759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49869051T>G ENST00000221498.2 + 4 731 c.326T>G c.(325-327)aTg>aGg p.M109R DKKL1_ENST00000594268.1_Intron NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 109 NA M -> R (in dbSNP:rs2303759). anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165) extracellular space (GO:0005615) signal transducer activity (GO:0004871) large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) TCCTCACAGATGACCGACAAC 0.562 NA T||| 1594 0.318291 0.292 0.2464 5008 , , NA 17401 0.3373 NA 0.2396 False NA ,,, NA NA NA 2504 0.4663 NA NA NA NA 0 T ,ARG/MET,ARG/MET 1266,3140 430.6+/-342.6 182,902,1119 102 89 93 http://www.ncbi.nlm.nih.gov/pubmed?term ,101,326 4.3 1 19 dbSNP_100 93 2278,6322 384.0+/-341.0 302,1674,2324 no intron,missense-near-splice,missense-near-splice DKKL1 NM_001197301.1,NM_001197302.1,NM_014419.3 ,91,91 484,2576,3443 GG,GT,TT http://www.ncbi.nlm.nih.gov/pubmed?term 26.4884,28.7335,27.249 ,benign,benign ,34/168,109/243 49869051 3544,9462 2203 4300 6503 SO:0001630 splice_region_variant AB047816 CCDS12762.1 19q13.3 2010-10-12 2010-10-12 ENSG00000104901 ENSG00000104901 27120 16528 protein-coding gene gene with protein product cancer/testis antigen 34, soggy 605418 dickkopf-like 1 (soggy) NA 10570958 Standard NM_014419 NM_001197301 NA Approved SGY-1, CT34 uc002pnk.3 Q9UK85 ENST00000221498.2:c.325-1T>G chr19.hg19:g.49869051T>G NA hg19 CCDS12762.1 0.02 11.075835 AGAxGAC COVERED 590 0.27014652014652013 134 0.27235772357723576 90 0.24861878453038674 186 0.32517482517482516 180 0.23746701846965698 T 10.98 1.504113 0.26949 0.287335 0.264884 ENSG00000104901 ENST00000221498 T 0.11930 2.73 4.35 4.35 0.52113 . 0.503678 0.16898 N 0.195029 T 0.00012 0.0000 N 0.08118 0 0.20764 P 0.99985795 B 0.32620 0.378 B 0.29353 0.101 T 0.43245 -0.9403 9 0.72032 D 0.01 -11.7793 10.1284 0.42663 0.0:0.0:0.0:1.0 rs2303759;rs52827084;rs59086630;rs2303759 109 Q9UK85 DKKL1_HUMAN R 109 ENSP00000221498:M109R ENSP00000221498:M109R M + 2 0 DKKL1 54560863 1.000000 0.71417 1.000000 0.80357 0.376000 0.30014 3.671000 0.54576 1.980000 0.57719 0.459000 0.35465 ATG NOVEL DKKL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465454.2 2 16.54568 KEEP 0 0 0 55 1638 TT 1 1 0 Missense_Mutation + 8 60 301 0 0 18.44936 249 60 8989 380 ENST00000221498.2 0.031128 1 DKKL1 27120 __UNKNOWN__ __UNKNOWN__ 19 49878196 49878196 __UNKNOWN__ Missense_Mutation SNP G G A rs2288481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49878196G>A ENST00000221498.2 + 5 1045 c.640G>A c.(640-642)Gaa>Aaa p.E214K DKKL1_ENST00000594268.1_Missense_Mutation_p.E72K|AC010524.2_ENST00000599433.1_RNA NM_014419.3 NP_055234.1 Q9UK85 DKKL1_HUMAN dickkopf-like 1 214 NA E -> K (in dbSNP:rs2288481). anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165) extracellular space (GO:0005615) signal transducer activity (GO:0004871) large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) GGACGTCCTAGAAGAGGGGAC 0.662 NA G||| 1294 0.258387 0.1952 0.2003 5008 , , NA 17220 0.3264 NA 0.2068 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 G LYS/GLU,LYS/GLU,LYS/GLU 887,3519 314.7+/-293.7 95,697,1411 33 35 34 547,415,640 3.1 0 19 dbSNP_100 34 1979,6621 320.3+/-314.5 240,1499,2561 yes missense,missense,missense DKKL1 NM_001197301.1,NM_001197302.1,NM_014419.3 56,56,56 335,2196,3972 AA,AG,GG 23.0116,20.1316,22.036 possibly-damaging,possibly-damaging,possibly-damaging 183/212,139/168,214/243 49878196 2866,10140 2203 4300 6503 SO:0001583 missense AB047816 CCDS12762.1 19q13.3 2010-10-12 2010-10-12 ENSG00000104901 ENSG00000104901 27120 16528 protein-coding gene gene with protein product cancer/testis antigen 34, soggy 605418 dickkopf-like 1 (soggy) NA 10570958 Standard NM_014419 NM_001197301 NA Approved SGY-1, CT34 uc002pnk.3 Q9UK85 ENST00000221498.2:c.640G>A chr19.hg19:g.49878196G>A ENSP00000221498:p.Glu214Lys NA hg19 CCDS12762.1 0.02 12.661675 CTAxAAG COVERED 490 0.22435897435897437 83 0.16869918699186992 73 0.20165745856353592 179 0.3129370629370629 155 0.20448548812664907 G 14.07 2.424616 0.43020 0.201316 0.230116 ENSG00000104901 ENST00000221498 T 0.14266 2.52 4.15 3.09 0.35607 . 0.449220 0.18957 N 0.126514 T 0.00012 0.0000 L 0.32530 0.975 0.80722 P 0.0 P 0.36909 0.573 B 0.36666 0.23 T 0.47235 -0.9133 9 0.87932 D 0 -7.7924 10.0305 0.42099 0.0:0.2047:0.7953:0.0 rs2288481;rs3195289;rs61144855;rs2288481 214 Q9UK85 DKKL1_HUMAN K 214 ENSP00000221498:E214K ENSP00000221498:E214K E + 1 0 DKKL1 54570008 0.014000 0.17966 0.007000 0.13788 0.009000 0.06853 0.384000 0.20668 1.320000 0.45209 0.655000 0.94253 GAA NOVEL DKKL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465454.2 2 16.553628 KEEP 0 0 0 55 1957 GG 1 1 0 + 10 60 364 0 0 22.081907 294 60 11351 472 ENST00000221498.2 0.032895 1 CCDC155 147872 __UNKNOWN__ __UNKNOWN__ 19 49894143 49894143 __UNKNOWN__ Start_Codon_SNP SNP G G A rs377312369 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49894143G>A ENST00000447857.3 + 2 208 c.3G>A c.(1-3)atG>atA p.M1I CCDC155_ENST00000593725.1_3'UTR NM_144688.4 NP_653289.3 Q8N6L0 KASH5_HUMAN coiled-coil domain containing 155 1 NA chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) calcium ion binding (GO:0005509) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 GGTGGCCCATGGACCTGCCCG 0.672 NA NA NA NA NA NA NA NA NA NA NA 0 G ILE/MET 1,3793 0,1,1896 20 25 23 3 3.2 1 19 23 0,8212 0,0,4106 no missense CCDC155 NM_144688.4 10 0,1,6002 AA,AG,GG 0.0,0.0264,0.0083 possibly-damaging 1/563 49894143 1,12005 1897 4106 6003 SO:0001582 initiator_codon_variant CCDS46140.1 19q13.33 2014-01-21 ENSG00000161609 ENSG00000161609 147872 26520 protein-coding gene gene with protein product NA Standard NM_144688 NM_144688 NA Approved FLJ32658, KASH5 uc002pnm.2 Q8N6L0 OTTHUMG00000183170 ENST00000447857.3:c.3G>A chr19.hg19:g.49894143G>A ENSP00000404220:p.Met1Ile NA Q96MC3 hg19 CCDS46140.1 0.02 5.955904 CATxGAC COVERED . . . . . . . . . . G 15.86 2.957063 0.53293 2.64E-4 0.0 ENSG00000161609 ENST00000447857 T 0.34275 1.37 3.23 3.23 0.37069 . 0.275043 0.29106 N 0.013132 T 0.53367 0.1792 . . . 0.38189 D 0.939869 P 0.52577 0.954 D 0.63597 0.916 T 0.61287 -0.7093 9 0.87932 D 0 -9.1113 10.2142 0.43158 0.0:0.0:1.0:0.0 . 1 Q8N6L0 CC155_HUMAN I 1 ENSP00000404220:M1I ENSP00000404220:M1I M + 3 0 CCDC155 54585955 1.000000 0.71417 1.000000 0.80357 0.533000 0.34776 4.042000 0.57347 2.108000 0.64289 0.555000 0.69702 ATG NOVEL CCDC155-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465436.2 0 15.349535 KEEP 0 0 0 51 1785 GG 1 1 0 Missense_Mutation + 8 60 284 0 0 18.171787 164 60 6226 292 ENST00000447857.3 0.046512 1 ALDH16A1 126133 __UNKNOWN__ __UNKNOWN__ 19 49962892 49962892 __UNKNOWN__ Intron SNP G G A rs62128062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49962892G>A ENST00000293350.4 + 4 483 ALDH16A1_ENST00000455361.2_Intron|ALDH16A1_ENST00000433981.2_Intron|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000598015.1_Intron NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 NA NA extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GCTGAGGGCCGTTGGAAAATG 0.607 NA G||| 856 0.170927 0.2163 0.2032 5008 , , NA 17563 0.005 NA 0.3191 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 G , 911,3495 345.9+/-308.8 99,713,1391 35 38 37 , -5.6 0 19 dbSNP_129 37 2857,5741 442.9+/-360.2 484,1889,1926 no intron,intron ALDH16A1 NM_001145396.1,NM_153329.3 , 583,2602,3317 AA,AG,GG 33.2287,20.6764,28.9757 , , 49962892 3768,9236 2203 4299 6502 SO:0001627 intron_variant AY007096 CCDS12766.1, CCDS46141.1 19q13.33 2014-08-12 ENSG00000161618 ENSG00000161618 126133 Aldehyde dehydrogenases 28114 protein-coding gene gene with protein product 613358 NA Standard NM_153329 NM_153329 NA Approved MGC10204 uc002pnt.3 Q8IZ83 OTTHUMG00000183163 ENST00000293350.4:c.321-35G>A chr19.hg19:g.49962892G>A NA B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8 hg19 CCDS12766.1 0.02 -0.254345 GCCxTTG COVERED NOVEL ALDH16A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465358.1 1 2.707953 KEEP 0 0 0 9 284 GG 0.99254 0.663536 0 + 10 60 343 0 0 30.959309 19 60 579 39 ENST00000293350.4 0.344828 0.668523 FLT3LG 2323 __UNKNOWN__ __UNKNOWN__ 19 49979893 49979893 __UNKNOWN__ Intron SNP A A G rs3826717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49979893A>G ENST00000594009.1 + 4 421 CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000600429.1_Intron|FLT3LG_ENST00000344019.3_Intron|FLT3LG_ENST00000204637.2_Intron|FLT3LG_ENST00000596435.1_Intron|FLT3LG_ENST00000597551.1_Intron|FLT3LG_ENST00000595510.1_Intron NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand NA NA embryonic hemopoiesis (GO:0035162)|lymphocyte differentiation (GO:0030098)|positive regulation of cell proliferation (GO:0008284)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165) extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|membrane (GO:0016020) receptor binding (GO:0005102) large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) GTAAAGCTCCACTAGGCCTTA 0.527 NA OREG0025623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 953 0.190296 0.4418 0.1124 5008 , , NA 16979 0.0694 NA 0.1243 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U04806 CCDS12767.1, CCDS62753.1 19q13.3 2014-01-30 ENSG00000090554 2323 Endogenous ligands 3766 protein-coding gene gene with protein product 600007 NA 8145851, 7824267 Standard NM_001204502 NA Approved uc010yau.2 P49771 ENST00000594009.1:c.342+70A>G chr19.hg19:g.49979893A>G 966 A0AVC2|B9EGH2|Q05C96 hg19 CCDS12767.1 0.02 4.167223 TCCxCTA COVERED NOVEL FLT3LG-007 KNOWN alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465305.1 2 10.830312 KEEP 0 0 0 36 1093 AA 0.999999 0.999996 0 + 6 60 204 0 0 13.055136 109 60 3796 178 ENST00000594009.1 0.052174 0.999997 RPL13A 23521 __UNKNOWN__ __UNKNOWN__ 19 49990843 49990843 __UNKNOWN__ 5'UTR SNP A A G rs2271951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49990843A>G ENST00000391857.4 + 0 33 CTD-3148I10.15_ENST00000595815.1_RNA NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a NA NA cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) AGGGATAAGAAACCCTGCGAC 0.642 NA A||| 1060 0.211661 0.5129 0.121 5008 , , NA 15295 0.0694 NA 0.1262 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 A 1828,2538 397,1034,752 33 33 33 4.3 1 19 dbSNP_100 33 824,7746 53,718,3514 no near-gene-5 450,1752,4266 GG,GA,AA 9.6149,41.869,20.5009 49990843 2652,10284 2183 4285 6468 SO:0001623 5_prime_UTR_variant X56932 CCDS12768.1, CCDS74421.1 19q13.3 2011-04-06 ENSG00000142541 ENSG00000142541 23521 L ribosomal proteins 10304 protein-coding gene gene with protein product tissue specific transplantation antigen 1 TSTA1 NA Standard NM_012423 NA Approved L13A uc031rlt.1 P40429 OTTHUMG00000134289 ENST00000391857.4:c.-44A>G chr19.hg19:g.49990843A>G NA A8K505 hg19 CCDS12768.1 0.02 9.074225 AGAxACC COVERED NOVEL RPL13A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258989.1 1 57.15318 KEEP 0 0 0 190 5627 AA 1 1 0 + 7 60 260 0 0 15.960976 207 60 7225 538 ENST00000391857.4 0.03271 1 RPL13A 23521 __UNKNOWN__ __UNKNOWN__ 19 49993383 49993383 __UNKNOWN__ Intron SNP G G T rs55991145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49993383G>T ENST00000391857.4 + 3 164 RPL13A_ENST00000477613.2_Splice_Site NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a NA NA cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CATTTAAACAGGAACTTAGCT 0.557 NA T||| 1312 0.261981 0.6936 0.1398 5008 , , NA 19435 0.0694 NA 0.1262 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X56932 CCDS12768.1, CCDS74421.1 19q13.3 2011-04-06 ENSG00000142541 ENSG00000142541 23521 L ribosomal proteins 10304 protein-coding gene gene with protein product tissue specific transplantation antigen 1 TSTA1 NA Standard NM_012423 NA Approved L13A uc031rlt.1 P40429 OTTHUMG00000134289 ENST00000391857.4:c.89-106G>T chr19.hg19:g.49993383G>T NA A8K505 hg19 CCDS12768.1 0.02 1.950818 ACAxGAA COVERED NOVEL RPL13A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258989.1 0 5.115995 KEEP 0 0 0 17 561 GG 0.999366 0.998926 0 + 6 60 226 0 0 16.077313 78 60 2851 101 ENST00000391857.4 0.071429 0.999559 RPL13A 23521 __UNKNOWN__ __UNKNOWN__ 19 49994470 49994470 __UNKNOWN__ Intron SNP T T A rs59192944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49994470T>A ENST00000391857.4 + 6 478 RPL13A_ENST00000477613.2_Intron|SNORD35A_ENST00000363389.1_RNA NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a NA NA cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) TCTGCGGATGTCCCTGTGGGA 0.542 NA T||| 1319 0.263379 0.6982 0.1412 5008 , , NA 17510 0.0694 NA 0.1262 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 T 1017,735 284,449,143 160 162 161 4.3 1 19 dbSNP_129 161 398,3584 24,350,1617 no intron RPL13A NM_012423.2 308,799,1760 AA,AT,TT 9.995,41.9521,24.6774 49994470 1415,4319 876 1991 2867 SO:0001627 intron_variant X56932 CCDS12768.1, CCDS74421.1 19q13.3 2011-04-06 ENSG00000142541 ENSG00000142541 23521 L ribosomal proteins 10304 protein-coding gene gene with protein product tissue specific transplantation antigen 1 TSTA1 NA Standard NM_012423 NA Approved L13A uc031rlt.1 P40429 OTTHUMG00000134289 ENST00000391857.4:c.402+114T>A chr19.hg19:g.49994470T>A NA A8K505 hg19 CCDS12768.1 0.02 7.903469 ATGxCCC COVERED NOVEL RPL13A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000258989.1 2 49.012128 KEEP 0 0 0 163 5174 TT 1 1 0 + 7 60 252 0 0 14.744315 238 60 8640 535 ENST00000391857.4 0.028571 1 RPS11 6205 __UNKNOWN__ __UNKNOWN__ 19 49999880 49999880 __UNKNOWN__ Intron SNP C C T rs4802613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:49999880C>T ENST00000270625.2 + 1 98 RPS11_ENST00000599561.1_Intron|RPS11_ENST00000594493.1_Intron|RPS11_ENST00000596873.1_Intron NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) AGGGCGCTTGCTTTTGTTTCT 0.522 NA C||| 1069 0.213458 0.5144 0.121 5008 , , NA 15046 0.0704 NA 0.1322 False NA ,,, NA NA NA 2504 0.1033 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007152 CCDS12769.1 19q13.3 2011-08-03 ENSG00000142534 ENSG00000142534 6205 S ribosomal proteins 10384 protein-coding gene gene with protein product 40S ribosomal protein S11 180471 NA 1577483, 9582194 Standard NM_001015 NM_001015 NA Approved S11 uc002pob.2 P62280 ENST00000270625.2:c.15+152C>T chr19.hg19:g.49999880C>T NA B2R4F5|P04643|Q498Y6|Q6IRY0 hg19 CCDS12769.1 0.02 1.757067 TTGxTTT COVERED NOVEL RPS11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465288.1 2 23.175273 KEEP 0 0 0 77 2755 CC 1 0.997553 0 + 4 60 141 0 0 9.32734 67 60 2569 185 ENST00000270625.2 0.056338 0.997553 PRRG2 5639 __UNKNOWN__ __UNKNOWN__ 19 50093141 50093141 __UNKNOWN__ Intron SNP C C A rs62128117 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:50093141C>A ENST00000246794.5 + 6 606 PRRG2_ENST00000596700.1_Intron NM_000951.2 NP_000942.1 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 NA NA extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) GCTAACTGTACCTTTGCTGTC 0.617 NA C||| 553 0.110423 0.0083 0.1167 5008 , , NA 12334 0.1548 NA 0.2068 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 C 126,4280 94.4+/-133.1 4,118,2081 85 84 84 -2.3 0 19 dbSNP_129 84 1588,7012 295.2+/-302.3 145,1298,2857 no intron PRRG2 NM_000951.2 149,1416,4938 AA,AC,CC 18.4651,2.8597,13.1785 50093141 1714,11292 2203 4300 6503 SO:0001627 intron_variant CCDS12773.1 19q13.33 2008-02-05 2004-05-27 5639 9470 protein-coding gene gene with protein product 604429 proline-rich Gla (G-carboxyglutamic acid) polypeptide 2 NA 9256434 Standard NM_000951 NM_000951 NA Approved PRGP2 uc002pon.3 O14669 ENST00000246794.5:c.438-16C>A chr19.hg19:g.50093141C>A NA Q6IBF8 hg19 CCDS12773.1 0.02 7.571678 GTAxCTT COVERED NOVEL PRRG2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465257.1 2 30.935514 KEEP 0 1 32 114 4056 CC 1 1 0 + 10 60 353 0 0 21.869815 239 60 8753 493 ENST00000246794.5 0.040161 1 IRF3 3661 __UNKNOWN__ __UNKNOWN__ 19 50166463 50166463 __UNKNOWN__ Silent SNP G G A rs2230666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:50166463G>A ENST00000597198.1 - 4 771 c.390C>T c.(388-390)ggC>ggT p.G130G IRF3_ENST00000377135.4_Silent_p.G130G|IRF3_ENST00000601291.1_Silent_p.G130G|IRF3_ENST00000309877.7_Silent_p.G130G|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000377139.3_Silent_p.G130G|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000600911.1_Silent_p.G130G|IRF3_ENST00000599223.1_Silent_p.G130G|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000442265.2_Missense_Mutation_p.A73V|IRF3_ENST00000599144.1_5'UTR Q14653 IRF3_HUMAN interferon regulatory factor 3 130 NA apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212) breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CAGAAGTACTGCCTCCACCAT 0.572 NA g||| 40 0.00798722 0.0 0.0 5008 , , NA 18172 0.0397 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 ,,,,,,, 1,4405 2.1+/-5.4 0,1,2202 215 185 195 390,285,390,,,,,390 0.3 0 19 dbSNP_98 195 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous,coding-synonymous,coding-synonymous,utr-5,utr-5,utr-5,utr-5,coding-synonymous IRF3 NM_001197122.1,NM_001197123.1,NM_001197124.1,NM_001197125.1,NM_001197126.1,NM_001197127.1,NM_001197128.1,NM_001571.5 ,,,,,,, 0,2,6501 AA,AG,GG 0.0116,0.0227,0.0154 ,,,,,,, 130/453,95/393,130/301,,,,,130/428 50166463 2,13004 2203 4300 6503 SO:0001819 synonymous_variant CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1 19q13.3-q13.4 2008-07-16 ENSG00000126456 3661 6118 protein-coding gene gene with protein product 603734 NA 8524823 Standard NM_001571 NM_001571 NA Approved uc002pow.3 Q14653 ENST00000597198.1:c.390C>T chr19.hg19:g.50166463G>A NA A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6 hg19 CCDS12775.1 0.02 4.106263 ACTxCCT COVERED 25 0.011446886446886446 0 0.0 0 0.0 25 0.043706293706293704 0 0.0 g 14.34 2.504935 0.44558 2.27E-4 1.16E-4 ENSG00000126456 ENST00000442265 D 0.98585 -5.01 3.69 0.354 0.16063 . . . . . D 0.85102 0.5620 . . . 0.09310 N 1 B 0.18461 0.028 B 0.18871 0.023 D 0.85314 0.1080 8 0.72032 D 0.01 0.186 3.7629 0.08611 0.2306:0.2056:0.5638:0.0 rs2230666;rs3810259 73 Q5FBY4 . V 73 ENSP00000400378:A73V ENSP00000400378:A73V A - 2 0 IRF3 54858275 0.010000 0.17322 0.000000 0.03702 0.160000 0.22226 0.589000 0.23939 0.175000 0.19841 0.651000 0.88453 GCA NOVEL IRF3-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465962.1 1 14.134504 KEEP 0 0 0 47 1640 GG 1 0.999999 0 - 6 60 193 0 0 11.794887 116 60 4353 211 ENST00000597198.1 0.04918 0.999999 VRK3 51231 __UNKNOWN__ __UNKNOWN__ 19 50511108 50511108 __UNKNOWN__ Intron SNP T T C rs3816033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:50511108T>C ENST00000599538.1 - 5 954 VRK3_ENST00000377011.2_Intron|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000424804.2_Intron|VRK3_ENST00000316763.3_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594948.1_Intron|VRK3_ENST00000593919.1_Intron|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000594092.1_Intron Q8IV63 VRK3_HUMAN vaccinia related kinase 3 NA NA negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516) nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) AAGAATAAAGTAAAAGCACCA 0.493 NA C||| 1273 0.254193 0.3782 0.1744 5008 , , NA 20653 0.3403 NA 0.1809 False NA ,,, NA NA NA 2504 0.1299 NA NA NA Pancreas(6;90 181 4352 12603 17050 34726 35237 44094) NA 0 C , 1435,2957 249,937,1010 30 31 31 , -3.9 0 19 dbSNP_107 31 1710,6876 173,1364,2756 no intron,intron VRK3 NM_001025778.1,NM_016440.3 , 422,2301,3766 CC,CT,TT 19.9161,32.673,24.2333 , , 50511108 3145,9833 2196 4293 6489 SO:0001627 intron_variant AB031052 CCDS12791.1, CCDS33076.1 19q13.33 2011-01-14 ENSG00000105053 ENSG00000105053 51231 18996 protein-coding gene gene with protein product NA Standard NM_016440 XM_005258971 NA Approved uc002prh.1 Q8IV63 ENST00000599538.1:c.290-25A>G chr19.hg19:g.50511108T>C NA A6NEG5|A8KA53|Q502Y2|Q9P2V8 hg19 CCDS12791.1 0.02 2.277609 AAGxAAA COVERED NOVEL VRK3-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000464815.1 0 6.618965 KEEP 0 0 0 22 690 TT 0.999879 0.999196 0 - 6 60 202 0 0 13.830068 75 60 2623 121 ENST00000599538.1 0.074074 0.999317 VRK3 51231 __UNKNOWN__ __UNKNOWN__ 19 50519249 50519249 __UNKNOWN__ Intron SNP C C T rs1469693 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:50519249C>T ENST00000599538.1 - 3 804 VRK3_ENST00000377011.2_Intron|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000424804.2_Intron|VRK3_ENST00000316763.3_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000594948.1_Intron|VRK3_ENST00000593919.1_Intron|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000594092.1_Intron Q8IV63 VRK3_HUMAN vaccinia related kinase 3 NA NA negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516) nucleus (GO:0005634) ATP binding (GO:0005524)|protein kinase activity (GO:0004672) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TTATTCCCACCGCAGAAACAG 0.537 NA C||| 1281 0.255791 0.3843 0.1744 5008 , , NA 22306 0.3403 NA 0.1809 False NA ,,, NA NA NA 2504 0.1299 NA NA NA Pancreas(6;90 181 4352 12603 17050 34726 35237 44094) NA 0 C , 1468,2938 472.8+/-356.5 246,976,981 211 202 205 , -1.6 0 19 dbSNP_88 205 1713,6887 313.0+/-311.1 164,1385,2751 no intron,intron VRK3 NM_001025778.1,NM_016440.3 , 410,2361,3732 TT,TC,CC 19.9186,33.3182,24.4579 , , 50519249 3181,9825 2203 4300 6503 SO:0001627 intron_variant AB031052 CCDS12791.1, CCDS33076.1 19q13.33 2011-01-14 ENSG00000105053 ENSG00000105053 51231 18996 protein-coding gene gene with protein product NA Standard NM_016440 XM_005258971 NA Approved uc002prh.1 Q8IV63 ENST00000599538.1:c.139+31G>A chr19.hg19:g.50519249C>T NA A6NEG5|A8KA53|Q502Y2|Q9P2V8 hg19 CCDS12791.1 0.02 4.645337 CACxGCA COVERED NOVEL VRK3-009 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000464815.1 0 2.708234 KEEP 0 0 0 9 292 CC 0.99254 0.992529 0 - 6 60 226 0 0 15.451959 100 60 3486 125 ENST00000599538.1 0.056604 0.999989 ZNF473 25888 __UNKNOWN__ __UNKNOWN__ 19 50542359 50542359 __UNKNOWN__ Intron SNP G G A rs2278283 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:50542359G>A ENST00000595661.1 + 4 504 ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Intron|ZNF473_ENST00000445728.3_Intron|ZNF473_ENST00000391821.2_Intron Q8WTR7 ZN473_HUMAN zinc finger protein 473 NA NA gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) Cajal body (GO:0015030)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) CCCTGAGTGAGCTGTTGGGCT 0.527 NA G||| 854 0.170527 0.1301 0.1254 5008 , , NA 19542 0.3393 NA 0.1332 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB032967 CCDS33077.1 19q13.33 2013-01-08 25888 Zinc fingers, C2H2-type, - 23239 protein-coding gene gene with protein product NA 11782445 Standard XM_046390 NM_015428 NA Approved KIAA1141, DKFZP434N043, HZFP100 uc002prn.3 Q8WTR7 ENST00000595661.1:c.10-59G>A chr19.hg19:g.50542359G>A NA A8K8T7|Q9ULS9|Q9Y4Q7 hg19 CCDS33077.1 0.02 7.660319 TGAxCTG COVERED NOVEL ZNF473-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464833.1 3 14.14639 KEEP 0 0 0 47 1691 GG 1 1 0 + 11 60 371 0 0 22.798722 239 60 9096 353 ENST00000595661.1 0.044 1 KLK1 3816 __UNKNOWN__ __UNKNOWN__ 19 51326892 51326892 __UNKNOWN__ Intron SNP G G A rs529926442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51326892G>A ENST00000301420.2 - 1 82 KLK1_ENST00000448701.2_Intron NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 NA NA extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) serine-type endopeptidase activity (GO:0004252) breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Aprotinin(DB06692) GTCTTATCGGGGGGGGATGTG 0.652 NA g||| 5 0.000998403 0.0 0.0 5008 , , NA 12180 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 23 31 29 NA NA 19 NA 51326892 692 1590 2282 SO:0001627 intron_variant L10038 CCDS12804.1 19q13.3 2008-02-05 2006-10-27 ENSG00000167748 3816 3.4.21.35 Kallikreins 6357 protein-coding gene gene with protein product 147910 kallikrein 1, renal/pancreas/salivary NA 1684954, 16800724, 16800723 Standard NM_002257 NM_002257 NA Approved Klk6 uc002ptk.1 P06870 ENST00000301420.2:c.46+66C>T chr19.hg19:g.51326892G>A NA Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1 hg19 CCDS12804.1 0.02 1.989997 CGGxGGG COVERED NOVEL KLK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464135.2 0 3.912554 KEEP 0 0 0 13 454 GG 0.994391 0.994253 0 - 8 60 297 0 0 21.758368 83 60 2928 119 ENST00000301420.2 0.087912 0.999862 KLK11 11012 __UNKNOWN__ __UNKNOWN__ 19 51530693 51530693 __UNKNOWN__ Intron SNP G G A rs1474520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51530693G>A ENST00000391804.3 - 1 11 KLK11_ENST00000594768.1_Intron|KLK11_ENST00000319720.7_Intron Q9UBX7 KLK11_HUMAN kallikrein-related peptidase 11 NA NA extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CAGGCAGCCCGAGTCCAGCTG 0.657 NA G||| 3713 0.741414 0.6551 0.6585 5008 , , NA 17421 0.9623 NA 0.7783 False NA ,,, NA NA NA 2504 0.6513 NA NA NA NA 0 G ,, 2923,1483 669.2+/-402.1 965,993,245 87 92 90 ,, -4.8 0 19 dbSNP_88 90 6512,2088 707.9+/-405.6 2466,1580,254 no intron,intron,intron KLK11 NM_001167605.1,NM_006853.2,NM_144947.1 ,, 3431,2573,499 AA,AG,GG 24.2791,33.6586,27.4566 ,, ,, 51530693 9435,3571 2203 4300 6503 SO:0001627 intron_variant AB012917 CCDS12818.1, CCDS12819.1, CCDS54297.1 19q13.33 2011-09-07 2006-10-27 ENSG00000167757 11012 Kallikreins, Serine peptidases / Serine peptidases 6359 protein-coding gene gene with protein product 604434 kallikrein 11 PRSS20 NA 9765601, 10662548, 16800724, 16800723 Standard NM_006853 NM_006853 NA Approved TLSP uc002pvb.2 Q9UBX7 ENST00000391804.3:c.34+506C>T chr19.hg19:g.51530693G>A NA O75837|Q0WXX5|Q8IXD7|Q9NS65 hg19 CCDS54297.1 0.02 4.180447 CCCxAGT COVERED NOVEL KLK11-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000464326.1 2 6.015995 KEEP 0 0 0 20 615 GG 0.999863 0.999862 0 - 7 60 249 0 0 16.532682 118 60 3845 161 ENST00000391804.3 0.056 0.999999 KLK12 43849 __UNKNOWN__ __UNKNOWN__ 19 51535130 51535130 __UNKNOWN__ Splice_Site SNP A A G rs3745540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51535130A>G ENST00000250351.4 - 4 574 c.e4+1 CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000525263.1_Splice_Site|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Splice_Site Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 NA NA proteolysis (GO:0006508) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) TGGGCCCCTTACTCCGTGGGT 0.617 NA A||| 2675 0.534145 0.357 0.5591 5008 , , NA 13289 0.6369 NA 0.5656 False NA ,,, NA NA NA 2504 0.6176 NA NA NA NA 0 GRCh37 CS042543 KLK12 S rs3745540 A ,, 1660,2740 316,1028,856 87 97 94 ,, 4.3 1 19 dbSNP_107 94 5049,3543 1514,2021,761 yes splice-5,splice-5,intron KLK12 NM_019598.2,NM_145894.1,NM_145895.1 ,, 1830,3049,1617 GG,GA,AA 41.236,37.7273,48.3605 ,, ,, 51535130 6709,6283 2200 4296 6496 SO:0001630 splice_region_variant CCDS12820.1, CCDS12821.1, CCDS54298.1 19q13.33 2008-02-05 2006-10-27 ENSG00000186474 ENSG00000186474 43849 Kallikreins 6360 protein-coding gene gene with protein product 605539 kallikrein 12 NA 16800724, 16800723 Standard NM_019598 NM_019598 NA Approved KLK-L5 uc002pvh.1 Q9UKR0 OTTHUMG00000165806 ENST00000250351.4:c.457+1T>C chr19.hg19:g.51535130A>G NA Q9UKR1|Q9UKR2 hg19 CCDS12820.1 0.02 17.317892 CTTxCTC COVERED 1141 0.5224358974358975 168 0.34146341463414637 208 0.574585635359116 350 0.6118881118881119 415 0.5474934036939314 A 11.67 1.708772 0.30322 0.377273 0.58764 ENSG00000186474 ENST00000525263;ENST00000319590;ENST00000250351 . . . 4.27 4.27 0.50696 . . . . . . . . . . . 0.09310 P 1.0 . . . . . . . . . . . . . . 9.9845 0.41832 1.0:0.0:0.0:0.0 rs3745540;rs3926726;rs17715045;rs61507153;rs3745540 . . . . -1 . . . - . . KLK12 56226942 0.780000 0.28664 1.000000 0.80357 0.355000 0.29361 0.937000 0.28951 1.949000 0.56562 0.528000 0.53228 . NOVEL KLK12-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000398364.1 1 18.98808 KEEP 0 1 37 76 2266 AA 1 1 0 Intron - 25 60 964 0 0 68.097922 362 60 12232 600 ENST00000250351.4 0.064599 1 IGLON5 402665 __UNKNOWN__ __UNKNOWN__ 19 51832750 51832750 __UNKNOWN__ 3'UTR SNP C C T rs372149131 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51832750C>T ENST00000270642.8 + 0 1748 NM_001101372.1 NP_001094842.1 A6NGN9 IGLO5_HUMAN IgLON family member 5 NA NA extracellular region (GO:0005576) large_intestine(5)|lung(6)|prostate(1) 12 GGCTCAGTGGCCTGAGACCTT 0.602 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 16658 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS46158.1 19q13.33 2013-01-29 ENSG00000142549 ENSG00000142549 402665 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 34550 protein-coding gene gene with protein product NA Standard NM_001101372 NM_001101372 NA Approved LOC402665 uc002pwc.2 A6NGN9 OTTHUMG00000154422 ENST00000270642.8:c.*737C>T chr19.hg19:g.51832750C>T NA hg19 CCDS46158.1 0.02 16.783776 TGGxCTG COVERED NOVEL IGLON5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000335149.1 3 21.972116 KEEP 0 0 0 73 2634 CC 1 1 0 + 19 60 643 0 0 39.292172 428 60 15867 642 ENST00000270642.8 0.042506 1 VSIG10L 147645 __UNKNOWN__ __UNKNOWN__ 19 51841417 51841417 __UNKNOWN__ Missense_Mutation SNP C C T rs34380065 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51841417C>T ENST00000335624.4 - 6 1774 c.1775G>A c.(1774-1776)cGg>cAg p.R592Q NM_001163922.1 NP_001157394.1 Q86VR7 VS10L_HUMAN V-set and immunoglobulin domain containing 10 like 592 NA R -> Q (in dbSNP:rs34380065). {ECO:0000269|PubMed:15489334}. integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(1) 4 CTCCCCCAACCGTGTCTCTGC 0.652 NA C||| 2851 0.569289 0.4644 0.4654 5008 , , NA 13538 0.6151 NA 0.5636 False NA ,,, NA NA NA 2504 0.7434 NA NA NA NA 0 C GLN/ARG 659,717 171,317,200 6 7 7 1775 -8.4 0 19 dbSNP_126 7 1876,1278 588,700,289 yes missense VSIG10L NM_001163922.1 43 759,1017,489 TT,TC,CC 40.52,47.8924,44.0397 benign 592/868 51841417 2535,1995 688 1577 2265 SO:0001583 missense CCDS54300.1 19q13.41 2013-01-11 ENSG00000186806 147645 Immunoglobulin superfamily / Immunoglobulin-like domain containing 27111 protein-coding gene gene with protein product NA 12477932 Standard NM_001163922 NM_001163922 NA Approved uc002pwf.3 Q86VR7 ENST00000335624.4:c.1775G>A chr19.hg19:g.51841417C>T ENSP00000335623:p.Arg592Gln NA hg19 CCDS54300.1 0.02 6.431748 AACxGTG COVERED 1153 0.5279304029304029 224 0.45528455284552843 162 0.44751381215469616 352 0.6153846153846154 415 0.5474934036939314 C 8.276 0.814392 0.16607 0.478924 0.5948 ENSG00000186806 ENST00000335624 T 0.27890 1.64 5.12 -8.41 0.00961 . 0.956791 0.08552 N 0.928865 T 0.00012 0.0000 L 0.41027 1.25 0.80722 P 0.0 B 0.10296 0.003 B 0.04013 0.001 T 0.49341 -0.8950 9 0.13853 T 0.58 -4.3012 2.0607 0.03592 0.1109:0.2745:0.1805:0.4341 rs34380065;rs58868085 592 Q86VR7 VS10L_HUMAN Q 592 ENSP00000335623:R592Q ENSP00000335623:R592Q R - 2 0 VSIG10L 56533229 0.000000 0.05858 0.000000 0.03702 0.016000 0.09150 -1.742000 0.01835 -0.736000 0.04831 -0.367000 0.07326 CGG NOVEL VSIG10L-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464535.1 0 17.789589 KEEP 0 1 31 70 2365 CC 1 1 0 - 11 60 403 0 0 27.412252 175 60 5815 305 ENST00000335624.4 0.05914 1 VSIG10L 147645 __UNKNOWN__ __UNKNOWN__ 19 51843808 51843808 __UNKNOWN__ Missense_Mutation SNP C C T rs7259266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51843808C>T ENST00000335624.4 - 3 1067 c.1068G>A c.(1066-1068)atG>atA p.M356I NM_001163922.1 NP_001157394.1 Q86VR7 VS10L_HUMAN V-set and immunoglobulin domain containing 10 like 356 Ig-like C2-type 1. NA M -> I (in dbSNP:rs7259266). integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(1) 4 CCTCTGAGCGCATCCGGGGCG 0.746 NA g||| 2797 0.558506 0.3888 0.4798 5008 , , NA 11666 0.62 NA 0.5785 False NA ,,, NA NA NA 2504 0.7597 NA NA NA NA 0 ILE/MET 555,781 128,299,241 6 12 10 1068 0.7 0 19 dbSNP_116 10 1893,1215 600,693,261 no missense VSIG10L NM_001163922.1 10 728,992,502 TT,TC,CC 39.0927,41.5419,44.9145 benign 356/868 51843808 2448,1996 668 1554 2222 SO:0001583 missense CCDS54300.1 19q13.41 2013-01-11 ENSG00000186806 147645 Immunoglobulin superfamily / Immunoglobulin-like domain containing 27111 protein-coding gene gene with protein product NA 12477932 Standard NM_001163922 NM_001163922 NA Approved uc002pwf.3 Q86VR7 ENST00000335624.4:c.1068G>A chr19.hg19:g.51843808C>T ENSP00000335623:p.Met356Ile NA hg19 CCDS54300.1 0.02 3.601638 GCGxATC COVERED 1157 0.5297619047619048 207 0.42073170731707316 172 0.47513812154696133 353 0.6171328671328671 425 0.5606860158311345 g 3.287 -0.145838 0.06627 0.415419 0.609073 ENSG00000186806 ENST00000335624 T 0.72051 -0.62 3.18 0.662 0.17880 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.43097 -0.9412 8 0.02654 T 1 . 10.5736 0.45214 0.0:0.6371:0.3629:0.0 rs7259266;rs58606297 356 Q86VR7 VS10L_HUMAN I 356 ENSP00000335623:M356I ENSP00000335623:M356I M - 3 0 VSIG10L 56535620 0.323000 0.24643 0.012000 0.15200 0.011000 0.07611 0.119000 0.15626 0.087000 0.17167 -0.464000 0.05259 ATG NOVEL VSIG10L-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464535.1 1 21.365945 KEEP 0 0 0 71 2446 CC 1 1 0 - 8 60 278 0 0 18.46246 126 60 4597 240 ENST00000335624.4 0.059701 1 VSIG10L 147645 __UNKNOWN__ __UNKNOWN__ 19 51844978 51844978 __UNKNOWN__ Silent SNP G G T rs8105710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51844978G>T ENST00000335624.4 - 2 323 c.324C>A c.(322-324)tcC>tcA p.S108S CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA NM_001163922.1 NP_001157394.1 Q86VR7 VS10L_HUMAN V-set and immunoglobulin domain containing 10 like 108 Ser-rich. NA integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(1) 4 CAGAGAAGGGGGAAACCGGGC 0.507 NA G||| 3188 0.636581 0.6687 0.5086 5008 , , NA 16773 0.619 NA 0.5795 False NA ,,, NA NA NA 2504 0.7607 NA NA NA NA 0 G 876,508 283,310,99 61 63 62 324 0.7 0 19 dbSNP_116 62 1913,1269 576,761,254 no coding-synonymous VSIG10L NM_001163922.1 859,1071,353 TT,TG,GG 39.8806,36.7052,38.9181 108/868 51844978 2789,1777 692 1591 2283 SO:0001819 synonymous_variant CCDS54300.1 19q13.41 2013-01-11 ENSG00000186806 147645 Immunoglobulin superfamily / Immunoglobulin-like domain containing 27111 protein-coding gene gene with protein product NA 12477932 Standard NM_001163922 NM_001163922 NA Approved uc002pwf.3 Q86VR7 ENST00000335624.4:c.324C>A chr19.hg19:g.51844978G>T NA hg19 CCDS54300.1 0.02 8.793391 GGGxGAA COVERED NOVEL VSIG10L-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464535.1 5 13.57561 KEEP 0 1 34 57 1942 GG 1 1 0 - 16 60 580 0 0 39.938716 230 60 8294 356 ENST00000335624.4 0.065041 1 VSIG10L 147645 __UNKNOWN__ __UNKNOWN__ 19 51845371 51845371 __UNKNOWN__ Missense_Mutation SNP T T G rs10414211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51845371T>G ENST00000335624.4 - 1 7 c.8A>C c.(7-9)aAc>aCc p.N3T CTD-2616J11.16_ENST00000601148.1_RNA|CTD-2616J11.16_ENST00000594311.1_RNA NM_001163922.1 NP_001157394.1 Q86VR7 VS10L_HUMAN V-set and immunoglobulin domain containing 10 like 3 NA N -> T (in dbSNP:rs10414211). integral component of membrane (GO:0016021) breast(1)|endometrium(2)|kidney(1) 4 AGCCTGTGGGTTGTCCATGGT 0.592 NA G||| 3205 0.639976 0.6793 0.5086 5008 , , NA 17529 0.621 NA 0.5805 False NA ,,, NA NA NA 2504 0.7607 NA NA NA NA 0 G THR/ASN 896,488 299,298,95 209 242 232 8 -0.2 0.2 19 dbSNP_119 232 1915,1267 576,763,252 yes missense VSIG10L NM_001163922.1 65 875,1061,347 GG,GT,TT 39.8177,35.2601,38.4363 benign 3/868 51845371 2811,1755 692 1591 2283 SO:0001583 missense CCDS54300.1 19q13.41 2013-01-11 ENSG00000186806 147645 Immunoglobulin superfamily / Immunoglobulin-like domain containing 27111 protein-coding gene gene with protein product NA 12477932 Standard NM_001163922 NM_001163922 NA Approved uc002pwf.3 Q86VR7 ENST00000335624.4:c.8A>C chr19.hg19:g.51845371T>G ENSP00000335623:p.Asn3Thr NA hg19 CCDS54300.1 0.02 4.691971 GGGxTGT COVERED 1284 0.5879120879120879 316 0.6422764227642277 186 0.5138121546961326 354 0.6188811188811189 428 0.5646437994722955 G 0.003 -2.492124 0.00159 0.647399 0.601823 ENSG00000186806 ENST00000335624;ENST00000542561 T 0.17213 2.29 3.56 -0.237 0.13061 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.42447 -0.9451 8 0.02654 T 1 . 3.1037 0.06334 0.3774:0.0:0.4324:0.1902 rs10414211;rs61144610 3 Q86VR7 VS10L_HUMAN T 3 ENSP00000335623:N3T ENSP00000335623:N3T N - 2 0 VSIG10L 56537183 0.069000 0.21087 0.164000 0.22755 0.067000 0.16453 -0.099000 0.11007 -0.187000 0.10516 -0.187000 0.12897 AAC NOVEL VSIG10L-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464535.1 0 2.576855 KEEP 0 2 70 33 1043 TT 0.999999 0.999998 0 - 10 60 369 0 0 26.199605 125 60 4383 224 ENST00000335624.4 0.074074 1 CTD-2616J11.4 0 __UNKNOWN__ __UNKNOWN__ 19 51892218 51892218 __UNKNOWN__ 3'UTR SNP G G A rs3826665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51892218G>A ENST00000574814.1 - 0 642 CTD-2616J11.4_ENST00000570516.1_3'UTR NM_001193623.1 NP_001180552.1 NA NA NA GCAATCTCAGGTGCCTGACCC 0.577 NA G||| 1611 0.321685 0.528 0.2824 5008 , , NA 15865 0.3304 NA 0.16 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000574814.1:c.*20C>T chr19.hg19:g.51892218G>A NA hg19 CCDS58676.1 0.02 4.293156 CAGxTGC COVERED NOVEL CTD-2616J11.4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436269.1 1 4.811899 KEEP 0 0 0 16 536 GG 0.997832 0.997826 0 - 7 60 256 0 0 17.571126 105 60 3851 150 ENST00000574814.1 0.0625 0.999995 CTD-2616J11.4 0 __UNKNOWN__ __UNKNOWN__ 19 51892683 51892683 __UNKNOWN__ Missense_Mutation SNP T T C rs8104425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51892683T>C ENST00000574814.1 - 2 177 c.116A>G c.(115-117)aAc>aGc p.N39S CTD-2616J11.4_ENST00000570516.1_5'UTR NM_001193623.1 NP_001180552.1 NA NA NA GTCTGTGGAGTTCAGGAGCAA 0.652 NA c||| 1612 0.321885 0.5272 0.2824 5008 , , NA 14346 0.3313 NA 0.161 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense NA NA NA NA ENST00000574814.1:c.116A>G chr19.hg19:g.51892683T>C ENSP00000458772:p.Asn39Ser NA hg19 CCDS58676.1 0.02 2.490716 GAGxTCA COVERED NOVEL CTD-2616J11.4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000436269.1 0 2.708181 KEEP 0 0 0 9 282 TT 0.99254 0.988259 0 - 6 60 230 0 0 17.051042 62 60 2182 93 ENST00000574814.1 0.088235 0.995687 CTD-2616J11.14 0 __UNKNOWN__ __UNKNOWN__ 19 51899747 51899747 __UNKNOWN__ lincRNA SNP A A G rs17729239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:51899747A>G ENST00000600765.1 + 0 108 NA NA NA GAGAGCTGTGAAATATCAAAA 0.433 NA a||| 818 0.163339 0.0809 0.2118 5008 , , NA 16523 0.38 NA 0.0915 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000600765.1: chr19.hg19:g.51899747A>G NA hg19 0.02 4.305226 GTGxAAT COVERED NOVEL CTD-2616J11.14-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000465204.1 0 6.898547 KEEP 0 0 0 23 662 AA 0.999892 0.999891 0 + 7 60 255 0 0 17.203822 115 60 4101 161 ENST00000600765.1 0.057377 0.999999 ZNF175 7728 __UNKNOWN__ __UNKNOWN__ 19 52076481 52076481 __UNKNOWN__ De_novo_Start_OutOfFrame SNP C C A rs386810357|rs2305371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52076481C>A ENST00000262259.2 + 0 257 ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 NA NA defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GACTCTCCGCCGTGTCCCTGG 0.527 NA A||| 1937 0.386781 0.2988 0.2637 5008 , , NA 19505 0.7599 NA 0.2465 False NA ,,, NA NA NA 2504 0.3528 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA D50419 CCDS12837.1 19q13.4 2013-01-08 ENSG00000105497 ENSG00000105497 7728 Zinc fingers, C2H2-type, - 12964 protein-coding gene gene with protein product 601139 NA 8838321 Standard NM_007147 NM_007147 NA Approved OTK18 uc002pxb.3 Q9Y473 OTTHUMG00000167771 ENST00000262259.2:c.-102C>A chr19.hg19:g.52076481C>A NA A8K9H2 hg19 CCDS12837.1 0.02 13.261853 CGCxGTG COVERED NOVEL ZNF175-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000396205.1 0 30.331164 KEEP 0 1 32 112 3814 CC 1 1 0 + 14 60 503 0 0 31.715274 324 60 11365 566 ENST00000262259.2 0.04142 1 ZNF175 7728 __UNKNOWN__ __UNKNOWN__ 19 52076960 52076960 __UNKNOWN__ Intron SNP T T C rs8111685 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52076960T>C ENST00000436511.2 + 1 74 ZNF175_ENST00000545217.1_3'UTR|ZNF175_ENST00000262259.2_Intron|ZNF175_ENST00000596504.1_Intron Q9Y473 ZN175_HUMAN zinc finger protein 175 NA NA defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CTGGTTCTGCTCCTTCATCCA 0.493 NA T||| 1752 0.34984 0.1936 0.2507 5008 , , NA 17131 0.7212 NA 0.2465 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50419 CCDS12837.1 19q13.4 2013-01-08 ENSG00000105497 ENSG00000105497 7728 Zinc fingers, C2H2-type, - 12964 protein-coding gene gene with protein product 601139 NA 8838321 Standard NM_007147 NM_007147 NA Approved OTK18 uc002pxb.3 Q9Y473 OTTHUMG00000167771 ENST00000436511.2:c.72+306T>C chr19.hg19:g.52076960T>C NA A8K9H2 hg19 0.02 7.29567 TGCxCCT COVERED NOVEL ZNF175-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396206.1 1 20.159824 KEEP 0 0 0 67 2103 TT 1 1 0 + 12 60 468 0 0 33.092493 178 60 6428 313 ENST00000436511.2 0.063158 1 ZNF175 7728 __UNKNOWN__ __UNKNOWN__ 19 52077069 52077069 __UNKNOWN__ Intron SNP G G A rs16982846 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52077069G>A ENST00000436511.2 + 1 74 ZNF175_ENST00000545217.1_3'UTR|ZNF175_ENST00000262259.2_Intron|ZNF175_ENST00000596504.1_Intron Q9Y473 ZN175_HUMAN zinc finger protein 175 NA NA defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CATAAGGTGCGGCAAAATCTC 0.448 NA G||| 1767 0.352835 0.2042 0.2522 5008 , , NA 16859 0.7212 NA 0.2465 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D50419 CCDS12837.1 19q13.4 2013-01-08 ENSG00000105497 ENSG00000105497 7728 Zinc fingers, C2H2-type, - 12964 protein-coding gene gene with protein product 601139 NA 8838321 Standard NM_007147 NM_007147 NA Approved OTK18 uc002pxb.3 Q9Y473 OTTHUMG00000167771 ENST00000436511.2:c.72+415G>A chr19.hg19:g.52077069G>A NA A8K9H2 hg19 0.02 4.20003 TGCxGCA COVERED NOVEL ZNF175-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000396206.1 1 13.541823 KEEP 0 0 0 45 1480 GG 1 1 0 + 5 60 188 0 0 11.917795 129 60 4506 198 ENST00000436511.2 0.037313 1 SIGLEC5 8778 __UNKNOWN__ __UNKNOWN__ 19 52132325 52132325 __UNKNOWN__ Silent SNP A A T rs2305372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52132325A>T ENST00000534261.2 - 5 1104 c.705T>A c.(703-705)gcT>gcA p.A235A SIGLEC5_ENST00000570106.2_Silent_p.A235A|SIGLEC5_ENST00000222107.4_Silent_p.A235A|SIGLEC5_ENST00000599649.1_Silent_p.A235A|SIGLEC5_ENST00000429354.3_Silent_p.A235A O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 235 NA cell adhesion (GO:0007155) integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TGGTCTGTGGAGCATCTGGGA 0.527 NA A||| 710 0.141773 0.0197 0.0865 5008 , , NA 18981 0.4921 NA 0.0358 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 A 139,4267 98.9+/-137.6 2,135,2066 183 162 169 705 -1.9 0.1 19 dbSNP_100 169 266,8334 101.2+/-162.5 3,260,4037 no coding-synonymous SIGLEC5 NM_003830.2 5,395,6103 TT,TA,AA 3.093,3.1548,3.1139 235/552 52132325 405,12601 2203 4300 6503 SO:0001819 synonymous_variant U71383 CCDS33088.1 19q13.41 2013-01-29 ENSG00000105501 ENSG00000105501 8778 Sialic acid binding Ig-like lectins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 10874 protein-coding gene gene with protein product 604200 CD33L2 NA 10343116 Standard NM_003830 NM_003830 NA Approved OB-BP2, SIGLEC-5, CD170 uc002pxe.4 O15389 OTTHUMG00000165510 ENST00000534261.2:c.705T>A chr19.hg19:g.52132325A>T NA hg19 CCDS33088.1 0.02 4.149647 TGGxGCA COVERED NOVEL SIGLEC5-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466897.2 0 7.22148 KEEP 0 0 0 24 756 AA 0.999909 0.999907 0 - 5 60 187 0 0 12.118214 112 60 4103 166 ENST00000534261.2 0.042735 0.999998 HAS1 3036 __UNKNOWN__ __UNKNOWN__ 19 52223180 52223180 __UNKNOWN__ Intron SNP A A G rs56166910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52223180A>G ENST00000222115.1 - 2 44 HAS1_ENST00000601714.1_Start_Codon_SNP_p.M1T|HAS1_ENST00000540069.2_Intron NM_001523.2 NP_001514.2 Q92839 HYAS1_HUMAN hyaluronan synthase 1 NA NA carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) hyaluronan synthase activity (GO:0050501) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGGAAGGGGCATGAGTCCCGG 0.647 NA a||| 2212 0.441693 0.2322 0.3991 5008 , , NA 13397 0.7917 NA 0.4006 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NSCLC(132;636 2450 45807 47979) NA 0 A 970,3110 155,660,1225 6 7 7 -2.9 0 19 dbSNP_129 7 2887,5133 603,1681,1726 no intron HAS1 NM_001523.2 758,2341,2951 GG,GA,AA 35.9975,23.7745,31.876 52223180 3857,8243 2040 4010 6050 SO:0001627 intron_variant U59269 CCDS12838.1, CCDS74436.1 19q13.3-q13.4 2013-02-22 ENSG00000105509 ENSG00000105509 3036 2.4.1.212 Glycosyltransferase family 2 domain containing 4818 protein-coding gene gene with protein product 601463 HAS NA 9169154 Standard NM_001523 XM_005258834 NA Approved uc002pxo.1 Q92839 ENST00000222115.1:c.10-29T>C chr19.hg19:g.52223180A>G NA Q14470|Q9NS49 hg19 CCDS12838.1 0.02 4.363786 GGCxTGA COVERED NOVEL HAS1-005 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000466953.1 1 2.477947 KEEP 0 2 77 35 1059 AA 1 0.999981 0 - 6 60 195 0 0 12.438318 97 60 3508 179 ENST00000222115.1 0.058252 0.999981 ZNF649 65251 __UNKNOWN__ __UNKNOWN__ 19 52403516 52403516 __UNKNOWN__ 5'UTR SNP T T C rs1549931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52403516T>C ENST00000354957.3 - 0 129 CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_5'UTR NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) extracellular space (GO:0005615)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CCTTCCTTCATTTGAACTCTC 0.473 NA C||| 3534 0.705671 0.9486 0.6513 5008 , , NA 18479 0.7411 NA 0.4433 False NA ,,, NA NA NA 2504 0.6493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant BC005368 CCDS12843.1 19q13.41 2013-01-08 ENSG00000198093 65251 Zinc fingers, C2H2-type, - 25741 protein-coding gene gene with protein product 611903 NA 15950191 Standard NM_023074 NM_023074 NA Approved FLJ12644 uc002pxy.3 Q9BS31 ENST00000354957.3:c.-156A>G chr19.hg19:g.52403516T>C NA A8MYJ5|B2RDC4|Q9H9N2 hg19 CCDS12843.1 0.02 6.507648 TCAxTTG COVERED NOVEL ZNF649-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000461097.1 0 3.645361 KEEP 0 1 31 23 734 TT 0.999909 0.999909 0 - 9 60 340 0 0 23.105394 157 60 5623 223 ENST00000354957.3 0.054217 1 ZNF836 162962 __UNKNOWN__ __UNKNOWN__ 19 52659991 52659991 __UNKNOWN__ Silent SNP A A G rs1821278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52659991A>G ENST00000322146.8 - 5 1466 c.945T>C c.(943-945)taT>taC p.Y315Y CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.Y315Y NM_001102657.1 NP_001096127.1 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 315 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TTGCAAGGTTATAACTTTGAC 0.393 NA G||| 2487 0.496605 0.652 0.3746 5008 , , NA 22373 0.5714 NA 0.2505 False NA ,,, NA NA NA 2504 0.5491 NA NA NA NA 0 G 2609,1793 485.8+/-360.4 789,1031,381 72 74 73 945 0.6 0 19 dbSNP_92 73 2234,6364 693.8+/-404.7 309,1616,2374 no coding-synonymous ZNF836 NM_001102657.1 1098,2647,2755 GG,GA,AA 25.9828,40.7315,37.2538 315/937 52659991 4843,8157 2201 4299 6500 SO:0001819 synonymous_variant BC011784 CCDS46162.1 19q13.33 2013-01-08 ENSG00000196267 ENSG00000196267 162962 Zinc fingers, C2H2-type, - 34333 protein-coding gene gene with protein product NA Standard NM_001102657 NM_001102657 NA Approved FLJ16287 uc010ydj.2 Q6ZNA1 ENST00000322146.8:c.945T>C chr19.hg19:g.52659991A>G NA hg19 CCDS46162.1 0.02 8.762263 GTTxTAA COVERED NOVEL ZNF836-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000462456.1 5 15.342296 KEEP 0 0 0 51 1512 AA 1 1 0 - 8 60 302 0 0 19.382208 195 60 6871 275 ENST00000322146.8 0.039409 1 ZNF610 162963 __UNKNOWN__ __UNKNOWN__ 19 52857701 52857701 __UNKNOWN__ Intron SNP G G A rs2251476 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52857701G>A ENST00000403906.3 + 5 775 ZNF610_ENST00000327920.8_Intron|ZNF610_ENST00000321287.8_Intron|ZNF610_ENST00000601151.1_Intron NM_001161425.1 NP_001154897.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) agggtgttccgctatcaccca 0.493 NA A||| 81 0.0161741 0.0023 0.0043 5008 , , NA 15398 0.0655 NA 0.004 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK093359 CCDS12851.1, CCDS54309.1 19q13.41 2013-01-08 ENSG00000167554 ENSG00000167554 162963 Zinc fingers, C2H2-type, - 26687 protein-coding gene gene with protein product NA 12477932 Standard NM_173530 NM_001161425 NA Approved FLJ36040 uc002pyx.4 Q8N9Z0 ENST00000403906.3:c.319+69G>A chr19.hg19:g.52857701G>A NA A8K4C3|Q86YH8|Q8NDS9 hg19 CCDS12851.1 0.02 1.978147 TCCxCTA COVERED NOVEL ZNF610-003 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000462880.1 0 4.514719 KEEP 0 0 0 15 528 GG 0.99649 0.99581 0 + 4 60 133 0 0 8.308002 77 60 2783 102 ENST00000403906.3 0.049383 0.999317 ZNF528 84436 __UNKNOWN__ __UNKNOWN__ 19 52909303 52909303 __UNKNOWN__ Intron SNP C C T rs2290745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52909303C>T ENST00000391788.2 + 5 635 ZNF528_ENST00000360465.3_Intron|ZNF528_ENST00000594530.1_Intron|ZNF528_ENST00000598192.1_Intron Q3MIS6 ZN528_HUMAN zinc finger protein 528 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATAATGTCCCCTCAGAAGCCG 0.507 NA T||| 2514 0.501997 0.3018 0.5663 5008 , , NA 17709 0.4147 NA 0.7694 False NA ,,, NA NA NA 2504 0.5419 NA NA NA NA 0 T 1581,2825 664.7+/-401.4 276,1029,898 95 96 96 1.6 0 19 dbSNP_100 96 6714,1886 331.9+/-319.9 2617,1480,203 no intron ZNF528 NM_032423.2 2893,2509,1101 TT,TC,CC 21.9302,35.8829,36.2217 52909303 8295,4711 2203 4300 6503 SO:0001627 intron_variant AB058730 CCDS33091.1 19q13 2013-01-08 ENSG00000167555 ENSG00000167555 84436 Zinc fingers, C2H2-type, - 29384 protein-coding gene gene with protein product 615580 NA 11347906 Standard NM_032423 NM_032423 NA Approved KIAA1827 uc002pzh.3 Q3MIS6 OTTHUMG00000156494 ENST00000391788.2:c.112+17C>T chr19.hg19:g.52909303C>T NA B3KPN4|Q86T88|Q96JK0 hg19 0.02 14.97628 CCCxTCA COVERED NOVEL ZNF528-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344337.3 4 6.289959 KEEP 0 2 57 41 1480 CC 1 1 0 + 23 60 817 0 0 54.685888 369 60 13977 523 ENST00000391788.2 0.058673 1 ZNF528 84436 __UNKNOWN__ __UNKNOWN__ 19 52917590 52917590 __UNKNOWN__ 3'UTR SNP G G A rs162124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52917590G>A ENST00000391788.2 + 0 898 ZNF528_ENST00000360465.3_Intron Q3MIS6 ZN528_HUMAN zinc finger protein 528 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) gggactgaacgaagggggcga 0.537 NA A||| 2827 0.564497 0.5507 0.5821 5008 , , NA 17869 0.4097 NA 0.7624 False NA ,,, NA NA NA 2504 0.5266 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058730 CCDS33091.1 19q13 2013-01-08 ENSG00000167555 ENSG00000167555 84436 Zinc fingers, C2H2-type, - 29384 protein-coding gene gene with protein product 615580 NA 11347906 Standard NM_032423 NM_032423 NA Approved KIAA1827 uc002pzh.3 Q3MIS6 OTTHUMG00000156494 ENST00000391788.2:c.*3G>A chr19.hg19:g.52917590G>A NA B3KPN4|Q86T88|Q96JK0 hg19 0.02 8.387405 AACxAAG COVERED NOVEL ZNF528-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344337.3 1 2.204964 KEEP 0 3 78 35 1126 GG 1 1 0 + 11 60 396 0 0 25.801489 213 60 7832 294 ENST00000391788.2 0.049107 1 ZNF528 84436 __UNKNOWN__ __UNKNOWN__ 19 52917626 52917626 __UNKNOWN__ Intron SNP A A G rs162123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52917626A>G ENST00000391788.2 + 7 929 ZNF528_ENST00000360465.3_Intron Q3MIS6 ZN528_HUMAN zinc finger protein 528 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) acaaaggtgtatatttggaag 0.522 NA A||| 2699 0.538938 0.4516 0.5749 5008 , , NA 17274 0.4147 NA 0.7624 False NA ,,, NA NA NA 2504 0.5297 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB058730 CCDS33091.1 19q13 2013-01-08 ENSG00000167555 ENSG00000167555 84436 Zinc fingers, C2H2-type, - 29384 protein-coding gene gene with protein product 615580 NA 11347906 Standard NM_032423 NM_032423 NA Approved KIAA1827 uc002pzh.3 Q3MIS6 OTTHUMG00000156494 ENST00000391788.2:c.369+5A>G chr19.hg19:g.52917626A>G NA B3KPN4|Q86T88|Q96JK0 hg19 0.02 6.703679 TGTxTAT COVERED NOVEL ZNF528-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344337.3 0 4.813931 KEEP 0 0 0 16 483 AA 0.997832 0.997832 0 + 11 60 399 0 0 27.913611 144 60 5138 183 ENST00000391788.2 0.070968 1 ZNF534 147658 __UNKNOWN__ __UNKNOWN__ 19 52937339 52937339 __UNKNOWN__ Intron SNP G G A rs17780173 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:52937339G>A ENST00000301085.4 + 3 267 ZNF534_ENST00000332323.6_Silent_p.E49E|ZNF534_ENST00000433050.1_Intron|ZNF534_ENST00000432303.2_Intron Q76KX8 ZN534_HUMAN zinc finger protein 534 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CCCTAGGTGAGGATAATGTCC 0.488 NA G||| 1248 0.249201 0.1165 0.2579 5008 , , NA 18246 0.4772 NA 0.1282 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 G , 422,2714 28,366,1174 103 99 100 ,147 1 0.4 19 dbSNP_123 100 795,6369 40,715,2827 no intron,coding-synonymous ZNF534 NM_001143938.1,NM_001143939.1 , 68,1081,4001 AA,AG,GG 11.0972,13.4566,11.8155 , ,49/675 52937339 1217,9083 1568 3582 5150 SO:0001627 intron_variant AK058073 CCDS46165.1, CCDS46166.1 19q13.41 2013-01-08 2004-02-06 2004-02-11 ENSG00000198633 ENSG00000198633 147658 Zinc fingers, C2H2-type, - 26337 protein-coding gene gene with protein product KRAB domain only 3 KRBO3 NA Standard NM_182512 NM_001143938 NA Approved FLJ25344 uc002pzk.3 Q76KX8 OTTHUMG00000156493 ENST00000301085.4:c.142+5G>A chr19.hg19:g.52937339G>A NA Q76KX9 hg19 0.02 14.416361 TGAxGAT COVERED NOVEL ZNF534-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000344335.1 2 15.651022 KEEP 0 0 0 52 1856 GG 1 1 0 + 10 60 361 0 0 20.980742 355 60 13333 520 ENST00000301085.4 0.027397 1 ZNF611 81856 __UNKNOWN__ __UNKNOWN__ 19 53209778 53209778 __UNKNOWN__ Missense_Mutation SNP C C G rs539472475 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53209778C>G ENST00000319783.1 - 7 846 c.530G>C c.(529-531)gGt>gCt p.G177A ZNF611_ENST00000595798.1_Missense_Mutation_p.G108A|ZNF611_ENST00000540744.1_Missense_Mutation_p.G177A|ZNF611_ENST00000602162.1_Missense_Mutation_p.G108A|ZNF611_ENST00000453741.2_Missense_Mutation_p.G108A|ZNF611_ENST00000543227.1_Missense_Mutation_p.G177A NM_030972.3 NP_112234.3 Q8N823 ZN611_HUMAN zinc finger protein 611 177 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AAGTTGATTACCAATTTCACC 0.393 NA -||| 1 0.000199681 0.0 0.0 5008 , , NA 19605 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 162 160 161 NA NA 19 NA 53209778 2203 4300 6503 SO:0001583 missense AK091389 CCDS12855.1, CCDS54312.1 19q13.42 2013-01-08 ENSG00000213020 ENSG00000213020 81856 Zinc fingers, C2H2-type, - 28766 protein-coding gene gene with protein product NA 12477932 Standard NM_030972 NM_030972 NA Approved MGC5384 uc010ydq.2 Q8N823 OTTHUMG00000154908 ENST00000319783.1:c.530G>C chr19.hg19:g.53209778C>G ENSP00000322427:p.Gly177Ala NA B3KRD5|Q69YG9 hg19 CCDS12855.1 0.02 14.056312 TTAxCAA COVERED . . . . . . . . . . . 0.003 -2.522604 0.00149 . . ENSG00000213020 ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783 T;T;T;T 0.08008 3.28;3.28;3.14;3.28 1.99 -3.98 0.04082 . . . . . T 0.05318 0.0141 L 0.36672 1.1 0.09310 N 1 B 0.10296 0.003 B 0.10450 0.005 T 0.33317 -0.9873 9 0.44086 T 0.13 . 0.5608 0.00679 0.1737:0.2885:0.1733:0.3645 . 177 Q8N823 ZN611_HUMAN A 177;177;108;177 ENSP00000437616:G177A;ENSP00000439211:G177A;ENSP00000443505:G108A;ENSP00000322427:G177A ENSP00000322427:G177A G - 2 0 ZNF611 57901590 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.903000 0.00338 -3.419000 0.00167 -2.990000 0.00078 GGT NOVEL ZNF611-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000337612.1 0 16.552115 KEEP 0 0 0 55 1971 CC 1 1 0 - 17 60 642 0 0 42.792095 333 60 12155 484 ENST00000319783.1 0.048571 1 CTD-2620I22.1 0 __UNKNOWN__ __UNKNOWN__ 19 53469623 53469623 __UNKNOWN__ RNA SNP C C A rs56208662 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53469623C>A ENST00000600068.1 - 0 489 NA NA NA TCAAAAAAAACCAAAAAGCAA 0.418 NA c||| 835 0.166733 0.261 0.0922 5008 , , NA 17350 0.3026 NA 0.0517 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000600068.1: chr19.hg19:g.53469623C>A NA hg19 0.02 -0.342147 AAAxCAA COVERED NOVEL CTD-2620I22.1-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000463881.1 0 2.707887 KEEP 0 0 0 9 288 CC 0.99254 0.859287 0 - 3 60 105 0 0 7.339469 36 60 1300 47 ENST00000600068.1 0.076923 0.865745 CTD-2620I22.1 0 __UNKNOWN__ __UNKNOWN__ 19 53469885 53469885 __UNKNOWN__ RNA SNP A A C rs12985034|rs66511214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53469885A>C ENST00000600068.1 - 0 489 NA NA NA CCTTATAGACACGGATTGGTT 0.363 NA c||| 1167 0.233027 0.4047 0.147 5008 , , NA 17590 0.3333 NA 0.1024 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000600068.1: chr19.hg19:g.53469885A>C NA hg19 0.02 4.498294 GACxCGG COVERED NOVEL CTD-2620I22.1-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000463881.1 0 3.308877 KEEP 0 0 0 11 313 AA 0.993072 0.993041 0 - 10 60 358 0 0 26.456112 90 60 3138 117 ENST00000600068.1 0.1 0.999968 CTD-2620I22.1 0 __UNKNOWN__ __UNKNOWN__ 19 53469887 53469887 __UNKNOWN__ RNA SNP G G T rs12985680|rs66511214 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53469887G>T ENST00000600068.1 - 0 489 NA NA NA TTATAGACACGGATTGGTTCT 0.363 NA t||| 1149 0.229433 0.4047 0.147 5008 , , NA 17623 0.3155 NA 0.1024 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000600068.1: chr19.hg19:g.53469887G>T NA hg19 0.02 1.928658 CACxGAT COVERED NOVEL CTD-2620I22.1-001 KNOWN basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000463881.1 0 3.008483 KEEP 0 0 0 10 320 GG 0.992708 0.992656 0 - 10 60 344 0 0 25.21275 88 60 3086 112 ENST00000600068.1 0.102041 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 53727282 53727282 __UNKNOWN__ IGR SNP A A G rs11084227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53727282A>G NA NA CTD-2245F17.3 (13014 upstream) : ZNF677 (4294 downstream) NA NA NA CAAAGGGGTAAGACCTCCAGC 0.428 NA A||| 2132 0.425719 0.1679 0.3804 5008 , , NA 16349 0.7431 NA 0.3519 False NA ,,, NA NA NA 2504 0.5552 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.53727282A>G NA hg19 0.02 4.326277 GTAxGAC COVERED NOVEL 0 2 9.628746 KEEP 0 0 0 32 1022 AA 0.999997 0.999997 0 6 60 227 0 0 14.986295 125 60 4489 185 0.045802 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 53727644 53727644 __UNKNOWN__ IGR SNP T T C rs12972588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53727644T>C NA NA CTD-2245F17.3 (13376 upstream) : ZNF677 (3932 downstream) NA NA NA CATATACTCTTATTGGAGGTA 0.418 NA C||| 2562 0.511581 0.4705 0.4092 5008 , , NA 17269 0.746 NA 0.3569 False NA ,,, NA NA NA 2504 0.5573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.53727644T>C NA hg19 0.02 7.056982 TCTxATT COVERED NOVEL 0 2 2.407479 KEEP 8 0 0 8 256 TT 0.99257 0.99257 0 9 60 334 0 0 22.212293 170 60 6114 224 0.050279 1 ZNF677 342926 __UNKNOWN__ __UNKNOWN__ 19 53741068 53741068 __UNKNOWN__ Silent SNP C C T rs12984188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53741068C>T ENST00000598513.1 - 5 1062 c.912G>A c.(910-912)tcG>tcA p.S304S ZNF677_ENST00000333952.4_Silent_p.S304S NM_182609.2 NP_872415.1 Q86XU0 ZN677_HUMAN zinc finger protein 677 304 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.S304S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TAGTGAGGTTCGAACACTGGT 0.403 NA C||| 2328 0.464856 0.2148 0.4294 5008 , , NA 20469 0.752 NA 0.4324 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1072,3334 388.4+/-326.9 106,860,1237 123 112 116 912 -3.1 0 19 dbSNP_121 116 3609,4991 521.4+/-379.9 748,2113,1439 no coding-synonymous ZNF677 NM_182609.2 854,2973,2676 TT,TC,CC 41.9651,24.3305,35.9911 304/585 53741068 4681,8325 2203 4300 6503 SO:0001819 synonymous_variant BC050038 CCDS12861.1 19q13.42 2013-01-08 ENSG00000197928 342926 Zinc fingers, C2H2-type, - 28730 protein-coding gene gene with protein product hypothetical protein MGC48625 NA 12477932 Standard NM_182609 NM_182609 NA Approved MGC48625 uc002qbg.1 Q86XU0 ENST00000598513.1:c.912G>A chr19.hg19:g.53741068C>T NA hg19 CCDS12861.1 0.02 10.10875 GTTxGAA COVERED NOVEL ZNF677-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464189.1 2 10.834732 KEEP 0 0 0 36 1219 CC 0.999999 0.999999 0 - 11 60 396 0 0 24.96511 255 60 9017 369 ENST00000598513.1 0.041353 1 VN1R4 317703 __UNKNOWN__ __UNKNOWN__ 19 53770746 53770746 __UNKNOWN__ Missense_Mutation SNP C C A rs140031028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53770746C>A ENST00000311170.4 - 1 226 c.173G>T c.(172-174)cGc>cTc p.R58L NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 58 NA R -> L (in allele VN1R4*4). {ECO:0000269|PubMed:12826614}. response to pheromone (GO:0019236) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) pheromone receptor activity (GO:0016503) p.R58L(1) central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TCCTTTACAGCGGAGAGCTAA 0.453 NA HNSCC(26;0.072) NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) upper_aerodigestive_tract(1) 37 38 38 NA NA 19 NA 53770746 2203 4297 6500 SO:0001583 missense AY114733 CCDS33099.1 19q13.42 2012-08-22 ENSG00000228567 ENSG00000228567 317703 Vomeronasal receptors / Type 1, GPCR / Unclassified : Vomeronasal receptors, type 1 19871 protein-coding gene gene with protein product NA 12123587 Standard NM_173857 NM_173857 NA Approved V1RL4 uc010ydu.2 Q7Z5H5 ENST00000311170.4:c.173G>T chr19.hg19:g.53770746C>A ENSP00000310856:p.Arg58Leu NA Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2 hg19 CCDS33099.1 0.02 15.272242 CAGxGGA COVERED 172 0.07875457875457875 80 0.16260162601626016 30 0.08287292817679558 19 0.033216783216783216 43 0.05672823218997362 A 0.012 -1.657194 0.00779 . . ENSG00000228567 ENST00000311170 T 0.05447 3.44 2.27 1.24 0.21308 GPCR, rhodopsin-like superfamily (1); 0.307925 0.17948 N 0.156612 T 0.00012 0.0000 N 0.00003 -3.44 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.40572 -0.9556 10 0.02654 T 1 . 3.7525 0.08572 0.6401:0.2234:0.1365:0.0 . 58 Q7Z5H5 VN1R4_HUMAN L 58 ENSP00000310856:R58L ENSP00000310856:R58L R - 2 0 VN1R4 58462558 0.028000 0.19301 0.000000 0.03702 0.001000 0.01503 3.077000 0.50089 -0.026000 0.13895 -0.397000 0.06425 CGC NOVEL VN1R4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000464287.1 1 2.576887 KEEP 11 2 61 30 1032 CC 0.999997 0.999997 0 - 30 49 1090 0 0 80.417259 284 60 9965 425 ENST00000311170.4 0.095541 1 ZNF525 170958 __UNKNOWN__ __UNKNOWN__ 19 53879043 53879043 __UNKNOWN__ Silent SNP T T C rs62115350 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53879043T>C ENST00000475179.1 + 3 150 c.36T>C c.(34-36)gaT>gaC p.D12D ZNF525_ENST00000593918.1_Silent_p.D12D|ZNF525_ENST00000491101.1_Silent_p.D12D|ZNF525_ENST00000467003.1_5'UTR|ZNF525_ENST00000474037.1_Silent_p.D12D Q8N782 ZN525_HUMAN zinc finger protein 525 0 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(3)|lung(3) 9 CATTCAGGGATGTGGCCATAG 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB075859 19q13.42 2013-01-16 ENSG00000203326 ENSG00000203326 170958 Zinc fingers, C2H2-type, - 29423 protein-coding gene gene with protein product NA 11853319 Standard NR_003699 NR_003699 NA Approved KIAA1979 uc010eqn.3 Q8N782 OTTHUMG00000158277 ENST00000475179.1:c.36T>C chr19.hg19:g.53879043T>C NA Q8TF23 hg19 0.02 8.516807 GGAxGTG COVERED NOVEL ZNF525-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350553.1 2 11.203548 KEEP 106 2 74 63 1933 TT 0.999879 0.999879 0 + 8 40 305 0 0 19.225176 223 55 8122 420 ENST00000475179.1 0.034632 1 ZNF525 170958 __UNKNOWN__ __UNKNOWN__ 19 53887576 53887576 __UNKNOWN__ Intron SNP C C T rs77807559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53887576C>T ENST00000475179.1 + 4 256 ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000467003.1_3'UTR|ZNF525_ENST00000474037.1_3'UTR Q8N782 ZN525_HUMAN zinc finger protein 525 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(3)|kidney(3)|lung(3) 9 TTTTCCCAGCCTGttttttgt 0.378 NA .||| 1207 0.241014 0.1974 0.1744 5008 , , NA 17278 0.2996 NA 0.2217 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB075859 19q13.42 2013-01-16 ENSG00000203326 ENSG00000203326 170958 Zinc fingers, C2H2-type, - 29423 protein-coding gene gene with protein product NA 11853319 Standard NR_003699 NR_003699 NA Approved KIAA1979 uc010eqn.3 Q8N782 OTTHUMG00000158277 ENST00000475179.1:c.143-647C>T chr19.hg19:g.53887576C>T NA Q8TF23 hg19 0.02 6.439252 AGCxTGT COVERED NOVEL ZNF525-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000350553.1 5 15.651639 KEEP 0 0 0 52 1904 CC 1 1 0 + 6 60 214 0 0 13.315037 145 60 5518 251 ENST00000475179.1 0.039735 1 ZNF765 91661 __UNKNOWN__ __UNKNOWN__ 19 53905578 53905578 __UNKNOWN__ Intron SNP C C T rs2617638 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53905578C>T ENST00000396408.3 + 3 259 ZNF765_ENST00000594030.1_Intron NM_001040185.1 NP_001035275.1 Q7L2R6 ZN765_HUMAN zinc finger protein 765 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|lung(3) 4 GBM - Glioblastoma multiforme(134;0.00379) ggcatgatctcggctcacggc 0.502 NA .||| 1139 0.227436 0.2496 0.1354 5008 , , NA 12533 0.3313 NA 0.1461 False NA ,,, NA NA NA 2504 0.2393 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017357 CCDS46171.1 19q13.41 2013-01-08 ENSG00000196417 91661 Zinc fingers, C2H2-type, - 25092 protein-coding gene gene with protein product NA 12477932 Standard NM_138372 XR_430215 NA Approved uc002qbm.3 Q7L2R6 ENST00000396408.3:c.142+134C>T chr19.hg19:g.53905578C>T NA A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49 hg19 CCDS46171.1 0.02 -0.288903 TCTxGGC COVERED NOVEL ZNF765-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000371603.1 1 2.708208 KEEP 1 0 0 9 282 CC 0.99254 0.755211 0 + 3 60 112 0 0 8.31121 29 60 890 44 ENST00000396408.3 0.09375 0.760887 ZNF813 126017 __UNKNOWN__ __UNKNOWN__ 19 53993764 53993764 __UNKNOWN__ Missense_Mutation SNP A A T rs12609217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:53993764A>T ENST00000396403.4 + 4 406 c.278A>T c.(277-279)gAt>gTt p.D93V ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 93 NA D -> V (in dbSNP:rs12609217). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ATTGATAAAGATATTCATAAC 0.398 NA a||| 301 0.0601038 0.0 0.0634 5008 , , NA 20095 0.2401 NA 0.003 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 A VAL/ASP 8,4384 12.9+/-30.5 0,8,2188 91 97 95 278 0.5 0 19 dbSNP_120 95 8,8588 7.1+/-27.0 0,8,4290 yes missense ZNF813 NM_001004301.3 152 0,16,6478 TT,TA,AA 0.0931,0.1821,0.1232 probably-damaging 93/618 53993764 16,12972 2196 4298 6494 SO:0001583 missense AK091460 CCDS46172.1 19q13.41 2013-01-08 ENSG00000198346 ENSG00000198346 126017 Zinc fingers, C2H2-type, - 33257 protein-coding gene gene with protein product NA Standard NM_001004301 NM_001004301 NA Approved FLJ16542 uc002qbu.2 Q6ZN06 OTTHUMG00000158309 ENST00000396403.4:c.278A>T chr19.hg19:g.53993764A>T ENSP00000379684:p.Asp93Val NA hg19 CCDS46172.1 0.02 19.711497 AAGxTAT COVERED 149 0.06822344322344322 0 0.0 13 0.03591160220994475 133 0.23251748251748253 3 0.00395778364116095 A 10.25 1.299475 0.23650 0.001821 9.31E-4 ENSG00000198346 ENST00000468450;ENST00000396403;ENST00000490956 T;T;T 0.05786 3.94;3.39;5.03 0.467 0.467 0.16721 . . . . . T 0.00012 0.0000 L 0.38838 1.175 0.80722 P 0.0 D 0.63046 0.992 D 0.68039 0.955 T 0.45659 -0.9246 8 0.30078 T 0.28 . 5.1617 0.15064 0.9999:0.0:1.0E-4:0.0 rs12609217;rs52817570;rs12609217 93 Q6ZN06 ZN813_HUMAN V 40;93;124 ENSP00000419821:D40V;ENSP00000379684:D93V;ENSP00000418289:D124V ENSP00000379684:D93V D + 2 0 ZNF813 58685576 0.052000 0.20516 0.003000 0.11579 0.140000 0.21249 0.867000 0.27968 0.393000 0.25203 0.172000 0.16884 GAT NOVEL ZNF813-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000350638.1 3 25.578119 KEEP 0 0 0 85 2710 AA 1 1 0 + 21 60 734 0 0 44.841219 522 60 19159 700 ENST00000396403.4 0.038674 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 54194034 54194034 __UNKNOWN__ IGR SNP T T C rs12975184 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54194034T>C NA NA MIR1283-1 (2213 upstream) : MIR520A (100 downstream) NA NA NA CCAGAAAACATGCAAACAGGG 0.423 NA T||| 870 0.173722 0.1293 0.1686 5008 , , NA 17253 0.2798 NA 0.1382 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.54194034T>C NA hg19 0.02 4.077479 ACAxGCA COVERED NOVEL 0 0 3.309378 KEEP 0 0 0 11 328 TT 0.993072 0.993072 0 7 60 250 0 0 16.104665 141 60 5063 174 0.047297 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 54194080 54194080 __UNKNOWN__ IGR SNP A A C rs12973198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54194080A>C NA NA MIR1283-1 (2259 upstream) : MIR520A (54 downstream) NA NA NA GTGTCCATTTAAACCTGGTCA 0.428 NA A||| 873 0.174321 0.1293 0.1686 5008 , , NA 16762 0.2827 NA 0.1382 False NA ,,, NA NA NA 2504 0.1646 NA NA NA NA 0 A 166,1218 11,144,537 56 49 51 -0.4 0 19 dbSNP_121 51 395,2787 27,341,1223 no intergenic 38,485,1760 CC,CA,AA 12.4136,11.9942,12.2865 54194080 561,4005 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.54194080A>C NA hg19 0.02 8.575756 TTTxAAC COVERED NOVEL 0 1 6.619943 KEEP 0 0 0 22 691 AA 0.999879 0.999879 0 9 60 313 0 0 19.011415 239 60 8657 331 0.03629 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 54209600 54209600 __UNKNOWN__ IGR SNP A A G rs4803164 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54209600A>G NA NA MIR526A1 (10 upstream) : MIR520C (1106 downstream) NA NA NA GAAAAACAACATTGAAGTTAA 0.408 NA N||| 1248 0.249201 0.3215 0.1844 5008 , , NA 19655 0.2034 NA 0.2684 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 G 995,2141 162,671,735 48 47 47 0.2 0 19 dbSNP_111 47 1835,5329 226,1383,1973 no intergenic 388,2054,2708 GG,GA,AA 25.6142,31.7283,27.4757 54209600 2830,7470 1568 3582 5150 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.54209600A>G NA hg19 0.02 8.603036 AACxTTG COVERED NOVEL 0 4 4.513788 KEEP 0 0 0 15 473 AA 0.99649 0.99649 0 11 60 355 0 0 22.434438 199 60 7342 263 0.052381 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 54254388 54254388 __UNKNOWN__ IGR SNP C C T rs75928006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54254388C>T NA NA RNU6-751P (1183 upstream) : MIR522 (76 downstream) NA NA NA CCAATAAATGCGTGCTTATTT 0.418 NA C||| 223 0.0445288 0.0015 0.0303 5008 , , NA 19120 0.119 NA 0.0149 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.54254388C>T NA hg19 0.02 5.361159 ATGxGTG COVERED NOVEL 0 0 2.407702 KEEP 0 0 0 8 280 CC 0.99257 0.99257 0 6 60 209 0 0 12.302309 177 60 6542 207 0.032787 1 VSTM1 284415 __UNKNOWN__ __UNKNOWN__ 19 54561792 54561792 __UNKNOWN__ Silent SNP G G A rs11669427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54561792G>A ENST00000338372.2 - 3 298 c.123C>T c.(121-123)gcC>gcT p.A41A VSTM1_ENST00000366170.2_Intron|VSTM1_ENST00000376626.1_Silent_p.A41A|VSTM1_ENST00000425006.2_Silent_p.A41A NM_198481.3 NP_940883.2 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 41 Ig-like V-type. NA immune system process (GO:0002376) extracellular space (GO:0005615)|integral component of membrane (GO:0016021) breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) CATTGCTCTCGGCTTCAACCA 0.517 NA G||| 796 0.158946 0.0386 0.1888 5008 , , NA 14443 0.1736 NA 0.2336 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 G 293,4113 159.6+/-192.1 8,277,1918 94 95 95 123 -7 0 19 dbSNP_120 95 1984,6616 347.8+/-326.7 206,1572,2522 no coding-synonymous VSTM1 NM_198481.3 214,1849,4440 AA,AG,GG 23.0698,6.65,17.5073 41/237 54561792 2277,10729 2203 4300 6503 SO:0001819 synonymous_variant AY358542 CCDS12872.1, CCDS74441.1, CCDS74442.1 19q13.42 2013-01-11 ENSG00000189068 ENSG00000189068 284415 Immunoglobulin superfamily / Immunoglobulin-like domain containing 29455 protein-coding gene gene with protein product NA 12975309 Standard NM_198481 NM_198481 NA Approved UNQ3033 uc002qcw.4 Q6UX27 OTTHUMG00000064906 ENST00000338372.2:c.123C>T chr19.hg19:g.54561792G>A NA B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7 hg19 CCDS12872.1 0.02 9.497158 CTCxGCT COVERED NOVEL VSTM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139358.3 2 2.442011 KEEP 0 1 31 19 635 GG 0.999863 0.999863 0 - 12 60 474 0 0 32.573726 222 60 7791 285 ENST00000338372.2 0.051282 1 TMC4 147798 __UNKNOWN__ __UNKNOWN__ 19 54667682 54667682 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54667682T>C ENST00000376591.4 - 8 1263 TMC4_ENST00000301187.4_Intron NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 NA NA ion transport (GO:0006811) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTTAAGGTCCTCCCCCCGGCC 0.547 NA OREG0003641 type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY236492 CCDS12882.1, CCDS46174.1 19q13.42 2008-02-05 ENSG00000167608 ENSG00000167608 147798 22998 protein-coding gene gene with protein product NA 12812529, 12906855 Standard XM_005277069 NA Approved uc010erf.3 Q7Z404 OTTHUMG00000066485 ENST00000376591.4:c.1132-63A>G chr19.hg19:g.54667682T>C 1002 Q7Z5M3|Q8N5E4|Q8TBS7 hg19 CCDS46174.1 0.02 2.123736 TCCxCCC COVERED NOVEL TMC4-011 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000156164.2 1 4.084531 KEEP 0 4 47 31 836 TT 0.999999 0.999998 0 - 15 60 206 0 0 8.765332 121 60 3284 222 ENST00000376591.4 0.110294 1 RPS9 6203 __UNKNOWN__ __UNKNOWN__ 19 54709969 54709969 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54709969C>A ENST00000302907.4 + 4 392 RPS9_ENST00000441429.1_Intron|RPS9_ENST00000391752.1_Intron|RPS9_ENST00000391753.2_Intron|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000402367.1_Intron NM_001013.3 NP_001004.2 P46781 RS9_HUMAN ribosomal protein S9 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182) NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 20 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.18) caggtgtgagccaccactccc 0.597 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U14971 CCDS12884.1 19q13.4 2011-04-05 ENSG00000170889 ENSG00000170889 6203 S ribosomal proteins 10442 protein-coding gene gene with protein product 40S ribosomal protein S9 603631 NA 7772601, 9582194 Standard NM_001013 XM_005259135 NA Approved S9 uc002qdx.3 P46781 OTTHUMG00000066618 ENST00000302907.4:c.221-175C>A chr19.hg19:g.54709969C>A NA A9C4C1|Q4QRK7|Q9BVZ0 hg19 CCDS12884.1 0.02 -0.277563 GAGxCAC COVERED NOVEL RPS9-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000142834.3 0 3.58479 KEEP 0 0 0 12 391 CC 0.993634 0.734962 0 + 5 60 98 0 0 6.396796 25 60 751 55 ENST00000302907.4 0.166667 0.739671 LILRB3 11025 __UNKNOWN__ __UNKNOWN__ 19 54723995 54723995 __UNKNOWN__ Intron SNP G G C rs378867 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54723995G>C ENST00000391750.1 - 8 1446 LILRB3_ENST00000424807.1_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000346401.6_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000469273.1_Intron|LILRB3_ENST00000245620.9_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 NA NA cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671) integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888) endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGGGGAGGCGGCGCTCCCCA 0.682 NA NA NA NA NA NA NA NA NA NA NA 0 13 13 13 NA NA 19 NA 54723995 1949 3597 5546 SO:0001627 intron_variant U91928 CCDS33105.1, CCDS46175.1 19q13.4 2013-01-11 ENSG00000204577 ENSG00000204577 11025 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6607 protein-coding gene gene with protein product 604820 NA 9278324, 9382880 Standard NM_006864 NM_006864 NA Approved LIR-3, HL9, ILT5, LIR3, CD85a uc002qee.1 O75022 OTTHUMG00000066626 ENST00000391750.1:c.1309+29C>G chr19.hg19:g.54723995G>C NA C9J1P3|C9JIP1|O15471|Q86U49 hg19 CCDS33105.1 0.02 1.716365 GGCxGCG COVERED NOVEL LILRB3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000142844.5 0 3.310752 KEEP 0 0 0 11 390 GG 0.993072 0.992842 0 - 8 40 245 0 0 16.685339 80 50 2793 108 ENST00000391750.1 0.090909 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 54797848 54797848 __UNKNOWN__ IGR SNP C C T rs103294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54797848C>T NA NA MIR4752 (11813 upstream) : LILRA3 (2005 downstream) NA NA NA TCCCAAGGTTCCACCACTCTG 0.488 NA .||| 1090 0.217652 0.0741 0.2435 5008 , , NA 21127 0.5129 NA 0.1799 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.54797848C>T NA hg19 0.02 17.734429 GTTxCAC COVERED NOVEL 0 4 10.23272 KEEP 0 0 0 34 1185 CC 0.999998 0.999998 0 17 60 630 0 0 39.850849 424 60 15438 527 0.038549 1 LILRA5 353514 __UNKNOWN__ __UNKNOWN__ 19 54823382 54823382 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54823382C>T ENST00000301219.3 - 4 280 c.161G>A c.(160-162)gGc>gAc p.G54D AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000346508.3_Missense_Mutation_p.G42D|LILRA5_ENST00000446712.3_Missense_Mutation_p.G42D|LILRA5_ENST00000432233.3_Missense_Mutation_p.G54D NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 54 Ig-like C2-type 1. NA innate immune response (GO:0045087) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GATCACAGAGCCTGGCTCAGC 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 76 77 76 NA NA 19 NA 54823382 2203 4300 6503 SO:0001583 missense AF212842 CCDS12888.1, CCDS12889.1 19q13.4 2013-01-11 2005-05-13 2005-05-13 ENSG00000187116 ENSG00000187116 353514 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 16309 protein-coding gene gene with protein product 606047 LILRB7 NA 10941842 Standard NM_181985 NM_181986 NA Approved ILT11, LIR9, CD85, CD85f uc002qfe.3 A6NI73 OTTHUMG00000065357 ENST00000301219.3:c.161G>A chr19.hg19:g.54823382C>T ENSP00000301219:p.Gly54Asp NA A6NHI3 hg19 CCDS12888.1 0.02 7.860414 GAGxCTG COVERED . . . . . . . . . . C 12.40 1.927738 0.34002 . . ENSG00000187116 ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233 T;T;T;T 0.09163 3.01;3.01;3.01;3.01 2.93 0.76 0.18442 Immunoglobulin-like fold (1); 1.214570 0.06358 N 0.711178 T 0.24851 0.0603 M 0.64170 1.965 0.09310 N 1 P;P;P;D 0.65815 0.749;0.944;0.817;0.995 B;P;P;D 0.67382 0.395;0.566;0.679;0.951 T 0.15549 -1.0433 10 0.46703 T 0.11 . 4.588 0.12291 0.0:0.6805:0.0:0.3195 . 42;54;42;54 A6NI73-4;A6NI73-3;A6NI73-2;A6NI73 .;.;.;LIRA5_HUMAN D 54;42;42;54 ENSP00000301219:G54D;ENSP00000302948:G42D;ENSP00000389499:G42D;ENSP00000404236:G54D ENSP00000301219:G54D G - 2 0 LILRA5 59515194 0.000000 0.05858 0.163000 0.22734 0.003000 0.03518 -0.185000 0.09684 0.580000 0.29522 -0.474000 0.04947 GGC NOVEL LILRA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140231.1 0 4.815326 KEEP 0 0 0 16 550 CC 0.997832 0.997832 0 - 10 60 331 0 0 20.561062 195 60 6864 255 ENST00000301219.3 0.04878 1 LAIR1 3903 __UNKNOWN__ __UNKNOWN__ 19 54881922 54881922 __UNKNOWN__ 5'UTR SNP G G A rs4429394 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54881922G>A ENST00000391743.3 - 0 243 LAIR1_ENST00000313038.6_5'UTR Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 NA NA immune system process (GO:0002376) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GAAGACCTCAGGACGATGATC 0.537 NA g||| 1137 0.227037 0.5189 0.2032 5008 , , NA 17893 0.1964 NA 0.0169 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF013249 CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1 19q13.4 2013-01-29 2006-03-23 ENSG00000167613 ENSG00000167613 3903 Leukocyte-associated Ig like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6477 protein-coding gene gene with protein product 602992 leukocyte-associated Ig-like receptor 1 NA 9285412 Standard XM_005258924 NA Approved CD305 uc002qfk.1 Q6GTX8 OTTHUMG00000065545 ENST00000391743.3:c.-38C>T chr19.hg19:g.54881922G>A NA hg19 0.02 26.52458 TCAxGAC COVERED NOVEL LAIR1-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000140510.2 5 21.67082 KEEP 94 0 0 72 2586 GG 1 1 0 - 30 60 1094 0 0 71.592805 589 60 22373 927 ENST00000391743.3 0.048465 1 LAIR1 3903 __UNKNOWN__ __UNKNOWN__ 19 54881931 54881931 __UNKNOWN__ 5'UTR SNP T T C rs10401703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54881931T>C ENST00000391743.3 - 0 234 LAIR1_ENST00000313038.6_5'UTR Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 NA NA immune system process (GO:0002376) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) AGGACGATGATCATCTTCATA 0.542 NA T||| 1054 0.210463 0.4841 0.183 5008 , , NA 17495 0.1895 NA 0.0129 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF013249 CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1 19q13.4 2013-01-29 2006-03-23 ENSG00000167613 ENSG00000167613 3903 Leukocyte-associated Ig like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6477 protein-coding gene gene with protein product 602992 leukocyte-associated Ig-like receptor 1 NA 9285412 Standard XM_005258924 NA Approved CD305 uc002qfk.1 Q6GTX8 OTTHUMG00000065545 ENST00000391743.3:c.-47A>G chr19.hg19:g.54881931T>C NA hg19 0.02 27.58502 TGAxCAT COVERED NOVEL LAIR1-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000140510.2 5 21.062737 KEEP 119 0 0 70 2211 TT 1 1 0 - 24 60 877 0 0 55.21238 588 60 21435 947 ENST00000391743.3 0.039216 1 LAIR1 3903 __UNKNOWN__ __UNKNOWN__ 19 54882031 54882031 __UNKNOWN__ 5'UTR SNP G G A rs4281841 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:54882031G>A ENST00000391743.3 - 0 134 LAIR1_ENST00000313038.6_5'UTR Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 NA NA immune system process (GO:0002376) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GGCTTTCCACGGGCTGCCACC 0.547 NA G||| 1043 0.208267 0.4584 0.2032 5008 , , NA 14142 0.1825 NA 0.0169 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF013249 CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1 19q13.4 2013-01-29 2006-03-23 ENSG00000167613 ENSG00000167613 3903 Leukocyte-associated Ig like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6477 protein-coding gene gene with protein product 602992 leukocyte-associated Ig-like receptor 1 NA 9285412 Standard XM_005258924 NA Approved CD305 uc002qfk.1 Q6GTX8 OTTHUMG00000065545 ENST00000391743.3:c.-147C>T chr19.hg19:g.54882031G>A NA hg19 0.02 21.370207 CACxGGC COVERED NOVEL LAIR1-005 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000140510.2 4 14.746758 KEEP 128 0 0 49 1663 GG 1 1 0 - 14 40 494 0 0 28.524433 488 50 16889 724 ENST00000391743.3 0.027888 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 55009317 55009317 __UNKNOWN__ IGR SNP G G A rs3865498 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55009317G>A NA NA CDC42EP5 (24906 upstream) : LAIR2 (4695 downstream) NA NA NA GTGGCAGCCCGTGGAAAGCCA 0.547 NA G||| 1676 0.334665 0.3192 0.2795 5008 , , NA 21912 0.5466 NA 0.1988 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.55009317G>A NA hg19 0.02 32.529938 CCCxTGG COVERED NOVEL 0 4 21.058091 KEEP 82 0 0 70 2331 GG 1 1 0 25 49 892 0 0 53.42728 738 50 25844 1044 0.032765 1 KIR3DX1 90011 __UNKNOWN__ __UNKNOWN__ 19 55048270 55048270 __UNKNOWN__ Silent SNP C C T rs17606836 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55048270C>T ENST00000335056.3 + 5 875 c.837C>T c.(835-837)aaC>aaT p.N279N KIR3DX1_ENST00000482404.1_3'UTR Q9H7L2 KI3X1_HUMAN killer cell immunoglobulin-like receptor, three domains, X1 279 Ig-like C2-type 2. NA extracellular region (GO:0005576) endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TCCAGGCCAACTTTTCTGTGG 0.547 NA C||| 1087 0.217053 0.146 0.2061 5008 , , NA 16451 0.1905 NA 0.2793 False NA ,,, NA NA NA 2504 0.2843 NA NA NA Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938) NA 0 C 515,3385 40,435,1475 95 94 94 -0.8 0 19 dbSNP_123 94 2247,6045 301,1645,2200 no intergenic 341,2080,3675 TT,TC,CC 27.0984,13.2051,22.6542 55048270 2762,9430 1950 4146 6096 SO:0001819 synonymous_variant BC033195 19q13.42 2013-03-26 2006-09-12 2006-09-12 ENSG00000104970 ENSG00000104970 90011 Immunoglobulin superfamily / Immunoglobulin-like domain containing 25043 other unknown leukocyte receptor cluster (LRC) member 12 LENG12 NA 11441184 Standard NR_026716 NR_026716 NA Approved FLJ00060 uc010erm.2 Q9H7L2 OTTHUMG00000065696 ENST00000335056.3:c.837C>T chr19.hg19:g.55048270C>T NA B7WNL0|Q8N0S4 hg19 0.02 8.700928 CAAxTTT COVERED NOVEL KIR3DX1-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000140800.2 2 8.724407 KEEP 0 0 0 29 1068 CC 0.999997 0.999997 0 + 8 60 292 0 0 18.248308 203 70 7647 298 ENST00000335056.3 0.037915 1 LILRA1 11024 __UNKNOWN__ __UNKNOWN__ 19 55112489 55112489 __UNKNOWN__ 3'UTR SNP C C A rs4806787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55112489C>A ENST00000251372.3 + 0 1859 LILRA1_ENST00000453777.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron NM_006863.2 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 NA NA cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GACCATTAACCTGTGATACCT 0.473 NA a||| 2391 0.477436 0.5015 0.5014 5008 , , NA 21012 0.6101 NA 0.3757 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF025530 CCDS12901.1, CCDS62802.1 19q13.4 2013-01-11 ENSG00000104974 ENSG00000104974 11024 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6602 protein-coding gene gene with protein product 604810 NA 9548455 Standard NM_006863 NM_006863 NA Approved LIR-6, CD85i, LIR6 uc002qgh.2 O75019 OTTHUMG00000065701 ENST00000251372.3:c.*207C>A chr19.hg19:g.55112489C>A NA O75018|Q3MJA6 hg19 CCDS12901.1 0.02 38.683732 AACxTGT COVERED NOVEL LILRA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140807.2 0 5.05444 KEEP 0 4 120 59 2086 CC 1 1 0 + 37 60 1323 0 0 83.020319 875 60 32423 1084 ENST00000251372.3 0.04057 1 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55141954 55141954 __UNKNOWN__ De_novo_Start_OutOfFrame SNP G G A rs3760860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55141954G>A ENST00000396327.3 + 0 94 LILRB1_ENST00000324602.7_De_novo_Start_OutOfFrame|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000434867.2_De_novo_Start_OutOfFrame|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396331.1_Intron NM_001278399.1 NP_001265328.1 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 NA NA cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TTCTGTGCTCGCTGCCACACG 0.522 NA HNSCC(37;0.09) g||| 2309 0.461062 0.5847 0.487 5008 , , NA 21910 0.5982 NA 0.3052 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396327.3:c.-179G>A chr19.hg19:g.55141954G>A NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42615.1 0.02 4.132107 CTCxCTG COVERED NOVEL LILRB1-001 NOVEL basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000140795.5 2 2.407453 KEEP 1 0 0 8 260 GG 0.99257 0.992569 0 + 7 60 259 0 0 17.681319 112 60 3667 139 ENST00000396327.3 0.058824 0.999998 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55142101 55142101 __UNKNOWN__ Intron SNP G G A rs3760861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55142101G>A ENST00000396331.1 + 2 309 LILRB1_ENST00000324602.7_Intron|LILRB1_ENST00000396332.4_Intron|LILRB1_ENST00000427581.2_De_novo_Start_InFrame|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000434867.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396327.3_Intron NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 NA NA cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) ACCCCACAACGCTGAGCTGAT 0.607 NA HNSCC(37;0.09) g||| 2255 0.45028 0.5537 0.4841 5008 , , NA 19754 0.5982 NA 0.3022 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396331.1:c.-49+17G>A chr19.hg19:g.55142101G>A NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42617.1 0.02 12.464219 AACxCTG COVERED NOVEL LILRB1-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000140796.4 2 5.115144 KEEP 0 0 0 17 565 GG 0.999366 0.999366 0 + 13 60 427 0 0 25.371951 324 60 10799 378 ENST00000396331.1 0.038576 1 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55142623 55142623 __UNKNOWN__ Intron SNP G G T rs2296368 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55142623G>T ENST00000396315.1 + 1 34 LILRB1_ENST00000324602.7_Intron|LILRB1_ENST00000396332.4_Intron|LILRB1_ENST00000427581.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000434867.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000396327.3_Intron|LILRB1_ENST00000396331.1_Intron Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 NA NA cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GCCAAACTCTGGTCCCTAAGG 0.597 NA HNSCC(37;0.09) g||| 2297 0.458666 0.5832 0.4856 5008 , , NA 17367 0.5982 NA 0.3032 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 G ,,, 772,612 219,334,139 51 63 60 ,,, -4.4 0 19 dbSNP_100 60 1013,2169 151,711,729 no intron,intron,intron,intron LILRB1 NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3 ,,, 370,1045,868 TT,TG,GG 31.8353,44.2197,39.0933 ,,, ,,, 55142623 1785,2781 692 1591 2283 SO:0001627 intron_variant AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396315.1:c.34+65G>T chr19.hg19:g.55142623G>T NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42614.1 0.02 4.484052 TCTxGTC COVERED NOVEL LILRB1-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000140839.1 1 3.611761 KEEP 0 0 0 12 423 GG 0.993634 0.993629 0 + 6 60 227 0 0 15.380467 107 60 3869 139 ENST00000396315.1 0.053097 0.999995 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55143156 55143156 __UNKNOWN__ Silent SNP T T C rs12462774|rs34880987|rs200526666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55143156T>C ENST00000396315.1 + 3 276 c.276T>C c.(274-276)caT>caC p.H92H LILRB1_ENST00000324602.7_Silent_p.H92H|LILRB1_ENST00000396332.4_Silent_p.H92H|LILRB1_ENST00000427581.2_Silent_p.H128H|LILRB1_ENST00000396321.2_Silent_p.H92H|LILRB1_ENST00000434867.2_Silent_p.H92H|LILRB1_ENST00000448689.1_Silent_p.H92H|LILRB1_ENST00000418536.2_Silent_p.H92H|LILRB1_ENST00000396317.1_Silent_p.H92H|LILRB1_ENST00000396327.3_Silent_p.H92H|LILRB1_ENST00000396331.1_Silent_p.H92H Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 92 Ig-like C2-type 1. NA cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCTGGGAACATGCAGGGCGGT 0.552 NA HNSCC(37;0.09) N||| 1071 0.213858 0.0575 0.232 5008 , , NA 17947 0.505 NA 0.1312 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 C ,,, 143,4263 8,127,2068 162 148 153 276,276,276,276 -0.2 0 19 dbSNP_120 153 608,7992 74,460,3766 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous LILRB1 NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3 ,,, 82,587,5834 CC,CT,TT 7.0698,3.2456,5.7743 ,,, 92/653,92/652,92/652,92/651 55143156 751,12255 2203 4300 6503 SO:0001819 synonymous_variant AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396315.1:c.276T>C chr19.hg19:g.55143156T>C NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42614.1 0.02 13.095404 ACAxGCA COVERED NOVEL LILRB1-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000140839.1 0 2.340481 KEEP 0 1 32 19 590 TT 0.999863 0.999863 0 + 10 60 379 0 0 23.34118 311 60 11489 421 ENST00000396315.1 0.031153 1 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55143157 55143157 __UNKNOWN__ Missense_Mutation SNP G G A rs12460501|rs34880987|rs200526666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55143157G>A ENST00000396315.1 + 3 277 c.277G>A c.(277-279)Gca>Aca p.A93T LILRB1_ENST00000324602.7_Missense_Mutation_p.A93T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A93T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A129T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A93T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A93T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A93T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A93T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A93T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A93T|LILRB1_ENST00000396331.1_Missense_Mutation_p.A93T Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 93 Ig-like C2-type 1. NA A -> T (in dbSNP:rs12460501). {ECO:0000269|PubMed:20600445}. cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTGGGAACATGCAGGGCGGTA 0.552 NA HNSCC(37;0.09) g||| 1071 0.213858 0.0575 0.232 5008 , , NA 17924 0.505 NA 0.1312 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G THR/ALA,THR/ALA,THR/ALA,THR/ALA 156,4250 8,140,2055 160 146 151 277,277,277,277 -0.3 0 19 dbSNP_120 151 644,7956 78,488,3734 no missense,missense,missense,missense LILRB1 NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3 58,58,58,58 86,628,5789 AA,AG,GG 7.4884,3.5406,6.151 benign,benign,benign,benign 93/653,93/652,93/652,93/651 55143157 800,12206 2203 4300 6503 SO:0001583 missense AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396315.1:c.277G>A chr19.hg19:g.55143157G>A ENSP00000379608:p.Ala93Thr NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42614.1 0.02 12.530041 CATxCAG COVERED 376 0.17216117216117216 19 0.03861788617886179 57 0.1574585635359116 231 0.40384615384615385 69 0.09102902374670185 G 10.20 1.283574 0.23392 0.035406 0.074884 ENSG00000104972 ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315 T;T;T;T;T;T;T;T;T;T;T 0.14766 2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48 2.11 -0.338 0.12651 Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.246452 0.28544 N 0.014975 T 0.00012 0.0000 L 0.47190 1.495 0.80722 P 0.0 D;B;P;P;B 0.54601 0.967;0.136;0.914;0.631;0.313 P;B;P;B;B 0.56127 0.792;0.103;0.657;0.393;0.314 T 0.47005 -0.9150 9 0.45353 T 0.12 . 5.5388 0.17026 0.3128:0.0:0.6872:0.0 rs12460501;rs57567657;rs12460501 93;93;93;93;93 A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6 .;.;.;.;LIRB1_HUMAN T 93;93;93;93;93;93;93;93;129;93;93 ENSP00000379614:A93T;ENSP00000391514:A93T;ENSP00000409968:A93T;ENSP00000379622:A93T;ENSP00000379618:A93T;ENSP00000315997:A93T;ENSP00000405243:A93T;ENSP00000379623:A93T;ENSP00000395004:A129T;ENSP00000379610:A93T;ENSP00000379608:A93T ENSP00000315997:A93T A + 1 0 LILRB1 59834969 0.000000 0.05858 0.005000 0.12908 0.009000 0.06853 -0.346000 0.07760 -0.222000 0.09958 -1.050000 0.02344 GCA NOVEL LILRB1-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000140839.1 0 2.442922 KEEP 0 1 31 19 682 GG 0.999863 0.999863 0 + 10 60 361 0 0 21.59755 307 60 11768 414 ENST00000396315.1 0.031546 1 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55143452 55143452 __UNKNOWN__ Missense_Mutation SNP T T C rs1061680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55143452T>C ENST00000396315.1 + 4 425 c.425T>C c.(424-426)aTc>aCc p.I142T LILRB1_ENST00000324602.7_Missense_Mutation_p.I142T|LILRB1_ENST00000396332.4_Missense_Mutation_p.I142T|LILRB1_ENST00000427581.2_Missense_Mutation_p.I178T|LILRB1_ENST00000396321.2_Missense_Mutation_p.I142T|LILRB1_ENST00000434867.2_Missense_Mutation_p.I142T|LILRB1_ENST00000448689.1_Missense_Mutation_p.I142T|LILRB1_ENST00000418536.2_Missense_Mutation_p.I142T|LILRB1_ENST00000396317.1_Missense_Mutation_p.I142T|LILRB1_ENST00000396327.3_Missense_Mutation_p.I142T|LILRB1_ENST00000396331.1_Missense_Mutation_p.I142T Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 142 Ig-like C2-type 2. NA I -> T (in dbSNP:rs1061680). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20600445, ECO:0000269|PubMed:9285411}. cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGGAATGTAATCCTCCAGTGT 0.552 NA HNSCC(37;0.09) N||| 2190 0.4373 0.6059 0.4553 5008 , , NA 18519 0.5942 NA 0.2465 False NA ,,, NA NA NA 2504 0.2311 NA NA NA NA 0 C THR/ILE,THR/ILE,THR/ILE,THR/ILE 2467,1939 549.6+/-377.8 694,1079,430 104 101 102 425,425,425,425 -0.6 0 19 dbSNP_86 102 2380,6220 700.8+/-405.2 323,1734,2243 yes missense,missense,missense,missense LILRB1 NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3 89,89,89,89 1017,2813,2673 CC,CT,TT 27.6744,44.0082,37.2674 benign,benign,benign,benign 142/653,142/652,142/652,142/651 55143452 4847,8159 2203 4300 6503 SO:0001583 missense AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396315.1:c.425T>C chr19.hg19:g.55143452T>C ENSP00000379608:p.Ile142Thr NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42614.1 0.02 12.139531 TAAxCCT COVERED 998 0.45695970695970695 313 0.6361788617886179 153 0.42265193370165743 339 0.5926573426573427 193 0.2546174142480211 C 0.004 -2.258264 0.00265 0.559918 0.276744 ENSG00000104972 ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315 T;T;T;T;T;T;T;T;T;T;T 0.02050 4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48;4.48 1.9 -0.625 0.11548 Immunoglobulin-like fold (1); 0.000000 0.56097 N 0.000039 T 0.00012 0.0000 N 0.00082 -2.215 0.80722 P 0.0 B;B;B;B;B 0.02656 0.0;0.0;0.0;0.0;0.0 B;B;B;B;B 0.04013 0.0;0.0;0.0;0.0;0.001 T 0.13124 -1.0521 9 0.02654 T 1 . 5.3779 0.16176 0.0:0.4992:0.0:0.5008 rs1061680;rs3202770;rs17845472;rs17858351;rs58070294;rs1061680 142;142;142;142;142 A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6 .;.;.;.;LIRB1_HUMAN T 142;142;142;142;142;142;142;142;178;142;142 ENSP00000379614:I142T;ENSP00000391514:I142T;ENSP00000409968:I142T;ENSP00000379622:I142T;ENSP00000379618:I142T;ENSP00000315997:I142T;ENSP00000405243:I142T;ENSP00000379623:I142T;ENSP00000395004:I178T;ENSP00000379610:I142T;ENSP00000379608:I142T ENSP00000315997:I142T I + 2 0 LILRB1 59835264 0.330000 0.24705 0.001000 0.08648 0.002000 0.02628 0.437000 0.21543 -0.405000 0.07599 -1.160000 0.01791 ATC NOVEL LILRB1-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000140839.1 2 6.318994 KEEP 0 0 0 21 657 TT 0.999869 0.999869 0 + 11 60 424 0 0 27.834066 251 60 9149 350 ENST00000396315.1 0.041985 1 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55143491 55143491 __UNKNOWN__ Missense_Mutation SNP G G T rs1061681 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55143491G>T ENST00000396315.1 + 4 464 c.464G>T c.(463-465)aGt>aTt p.S155I LILRB1_ENST00000324602.7_Missense_Mutation_p.S155I|LILRB1_ENST00000396332.4_Missense_Mutation_p.S155I|LILRB1_ENST00000427581.2_Missense_Mutation_p.S191I|LILRB1_ENST00000396321.2_Missense_Mutation_p.S155I|LILRB1_ENST00000434867.2_Missense_Mutation_p.S155I|LILRB1_ENST00000448689.1_Missense_Mutation_p.S155I|LILRB1_ENST00000418536.2_Missense_Mutation_p.S155I|LILRB1_ENST00000396317.1_Missense_Mutation_p.S155I|LILRB1_ENST00000396327.3_Missense_Mutation_p.S155I|LILRB1_ENST00000396331.1_Missense_Mutation_p.S155I Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 155 Ig-like C2-type 2. NA S -> I (in dbSNP:rs1061681). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20600445, ECO:0000269|PubMed:9285411}. cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GATGGCTTCAGTCTGTGTAAG 0.587 NA HNSCC(37;0.09) t||| 2254 0.45008 0.5862 0.4755 5008 , , NA 18369 0.5952 NA 0.2783 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 T ILE/SER,ILE/SER,ILE/SER,ILE/SER 2425,1981 682,1061,460 118 118 118 464,464,464,464 0.3 0 19 dbSNP_86 118 2847,5753 457,1933,1910 no missense,missense,missense,missense LILRB1 NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3 142,142,142,142 1139,2994,2370 TT,TG,GG 33.1047,44.9614,40.5351 benign,benign,benign,benign 155/653,155/652,155/652,155/651 55143491 5272,7734 2203 4300 6503 SO:0001583 missense AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396315.1:c.464G>T chr19.hg19:g.55143491G>T ENSP00000379608:p.Ser155Ile NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42614.1 0.02 13.586845 TCAxTCT COVERED 872 0.3992673992673993 240 0.4878048780487805 145 0.4005524861878453 305 0.5332167832167832 182 0.24010554089709762 C 0.004 -2.381260 0.00205 0.550386 0.331047 ENSG00000104972 ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315 T;T;T;T;T;T;T;T;T;T;T 0.03772 3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81 1.57 0.317 0.15861 Immunoglobulin-like fold (1); 1.784900 0.02843 N 0.128185 T 0.00012 0.0000 N 0.00132 -2.035 0.80722 P 0.0 B;B;B;B;B 0.06786 0.001;0.0;0.0;0.0;0.0 B;B;B;B;B 0.01281 0.0;0.0;0.0;0.0;0.0 T 0.48547 -0.9026 9 0.02654 T 1 . 2.4378 0.04487 0.0:0.1948:0.2954:0.5098 rs1061681;rs3202771;rs3945748;rs17845473;rs17858352;rs59526154 155;155;155;155;155 A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6 .;.;.;.;LIRB1_HUMAN I 155;155;155;155;155;155;155;155;191;155;155 ENSP00000379614:S155I;ENSP00000391514:S155I;ENSP00000409968:S155I;ENSP00000379622:S155I;ENSP00000379618:S155I;ENSP00000315997:S155I;ENSP00000405243:S155I;ENSP00000379623:S155I;ENSP00000395004:S191I;ENSP00000379610:S155I;ENSP00000379608:S155I ENSP00000315997:S155I S + 2 0 LILRB1 59835303 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 -0.921000 0.04008 -0.293000 0.08986 -2.970000 0.00081 AGT NOVEL LILRB1-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000140839.1 2 9.023381 KEEP 1 0 0 30 1048 GG 0.999997 0.999997 0 + 12 60 446 0 0 28.436939 289 60 10871 415 ENST00000396315.1 0.039867 1 LILRB1 10859 __UNKNOWN__ __UNKNOWN__ 19 55145453 55145453 __UNKNOWN__ Silent SNP C C T rs370595875 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55145453C>T ENST00000396315.1 + 8 1344 c.1344C>T c.(1342-1344)acC>acT p.T448T LILRB1_ENST00000324602.7_Silent_p.T448T|LILRB1_ENST00000396332.4_Silent_p.T447T|LILRB1_ENST00000427581.2_Silent_p.T484T|LILRB1_ENST00000396321.2_Silent_p.T447T|LILRB1_ENST00000434867.2_Silent_p.T447T|LILRB1_ENST00000448689.1_Silent_p.T447T|LILRB1_ENST00000418536.2_Silent_p.T431T|LILRB1_ENST00000396317.1_Silent_p.T431T|LILRB1_ENST00000396327.3_Silent_p.T448T|LILRB1_ENST00000396331.1_Silent_p.T447T|LILRB1_ENST00000462628.1_3'UTR Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 447 NA cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TCACCCCCACCGGGTCGGATC 0.697 NA HNSCC(37;0.09) c||| 17 0.00339457 0.0121 0.0014 5008 , , NA 13612 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C ,,, 61,4327 0,61,2133 19 23 21 1344,1344,1341,1341 -2.9 0 19 dbSNP_134 21 4,8586 0,4,4291 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous LILRB1 NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3 ,,, 0,65,6424 TT,TC,CC 0.0466,1.3902,0.5008 ,,, 448/653,448/652,447/652,447/651 55145453 65,12913 2194 4295 6489 SO:0001819 synonymous_variant AF009220 CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1 19q13.4 2013-01-11 10859 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6605 protein-coding gene gene with protein product 604811 NA 9285411, 9382880 Standard XM_006726246 NA Approved LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j uc002qgm.3 Q8NHL6 ENST00000396315.1:c.1344C>T chr19.hg19:g.55145453C>T NA A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0 hg19 CCDS42614.1 0.02 1.733871 CACxGGG COVERED NOVEL LILRB1-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000140839.1 1 3.912316 KEEP 0 0 0 13 436 CC 0.994391 0.99407 0 + 7 40 253 0 0 18.104051 79 60 2719 112 ENST00000396315.1 0.081395 0.999678 LILRB4 11006 __UNKNOWN__ __UNKNOWN__ 19 55175740 55175740 __UNKNOWN__ Silent SNP C C T rs3745871 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55175740C>T ENST00000391736.1 + 6 774 c.459C>T c.(457-459)ttC>ttT p.F153F LILRB4_ENST00000430952.2_Silent_p.F153F|LILRB4_ENST00000391733.3_Silent_p.F153F|LILRB4_ENST00000391734.3_Silent_p.F153F|LILRB4_ENST00000270452.2_Silent_p.F153F NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 153 Ig-like C2-type 2. NA immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGGACACTTTCCTTCTGATCA 0.572 NA C||| 1997 0.398762 0.3048 0.4179 5008 , , NA 20496 0.5804 NA 0.3817 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 C , 1448,2958 468.3+/-355.1 233,982,988 103 92 96 459,459 -1.3 0 19 dbSNP_107 96 3157,5443 482.1+/-370.8 594,1969,1737 no coding-synonymous,coding-synonymous LILRB4 NM_001081438.1,NM_006847.3 , 827,2951,2725 TT,TC,CC 36.7093,32.8643,35.4067 , 153/448,153/449 55175740 4605,8401 2203 4300 6503 SO:0001819 synonymous_variant U82979 CCDS12902.1, CCDS42618.1 19q13.4 2013-01-11 ENSG00000186818 11006 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6608 protein-coding gene gene with protein product 604821 NA 9151699, 9079806 Standard XM_005277050 NA Approved LIR-5, ILT3, HM18, LIR5, CD85k uc002qgp.3 Q8NHJ6 ENST00000391736.1:c.459C>T chr19.hg19:g.55175740C>T NA A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5 hg19 CCDS12902.1 0.02 14.692108 TTTxCTT COVERED NOVEL LILRB4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141127.3 3 8.962427 KEEP 0 1 26 39 1353 CC 1 1 0 + 16 60 557 0 0 34.862423 363 60 13476 520 ENST00000391736.1 0.042216 1 LILRB4 11006 __UNKNOWN__ __UNKNOWN__ 19 55176287 55176287 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55176287C>T ENST00000391736.1 + 7 1008 c.693C>T c.(691-693)tcC>tcT p.S231S LILRB4_ENST00000430952.2_Silent_p.S231S|LILRB4_ENST00000391733.3_Silent_p.S231S|LILRB4_ENST00000391734.3_Silent_p.S231S|LILRB4_ENST00000270452.2_Silent_p.S231S NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 231 NA immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCACAAGGTCCGTCTCAACAG 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 70 61 64 NA NA 19 NA 55176287 2203 4300 6503 SO:0001819 synonymous_variant U82979 CCDS12902.1, CCDS42618.1 19q13.4 2013-01-11 ENSG00000186818 11006 Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6608 protein-coding gene gene with protein product 604821 NA 9151699, 9079806 Standard XM_005277050 NA Approved LIR-5, ILT3, HM18, LIR5, CD85k uc002qgp.3 Q8NHJ6 ENST00000391736.1:c.693C>T chr19.hg19:g.55176287C>T NA A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5 hg19 CCDS12902.1 0.02 8.666763 GTCxGTC COVERED NOVEL LILRB4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141127.3 1 9.028507 KEEP 0 0 0 30 1026 CC 0.999997 0.999997 0 + 7 60 266 0 0 16.091306 242 60 8424 344 ENST00000391736.1 0.028112 1 KIR3DL3 115653 __UNKNOWN__ __UNKNOWN__ 19 55241172 55241172 __UNKNOWN__ Missense_Mutation SNP A A C rs2302422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55241172A>C ENST00000291860.1 + 5 887 c.869A>C c.(868-870)aAc>aCc p.N290T KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 290 Ig-like C2-type 3. {ECO:0000305}. NA N -> T (in allele KIR3DL3*00601, allele KIR3DL3*00602, allele KIR3DL3*01101, allele KIR3DL3*01102, allele KIR3DL3*01501, allele KIR3DL3*01601 and allele KIR3DL3*017; dbSNP:rs2302422). {ECO:0000269|PubMed:11960306}. integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CACGGAGGGAACTACAGATGC 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AF352324 CCDS12903.1 19q13.4 2014-05-22 ENSG00000242019 ENSG00000242019 115653 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 16312 protein-coding gene gene with protein product 610095 NA 11513144 Standard NM_153443 NM_153443 NA Approved KIRC1, KIR3DL7, KIR44, CD158z uc002qgu.1 Q8N743 OTTHUMG00000065884 ENST00000291860.1:c.869A>C chr19.hg19:g.55241172A>C ENSP00000291860:p.Asn290Thr NA A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4 hg19 CCDS12903.1 0.02 12.717293 GGAxCTA COVERED . . . . . . . . . . - 0.001 -3.273359 0.00020 . . ENSG00000242019 ENST00000291860 T 0.15834 2.39 1.37 -2.73 0.05950 Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1); 1.232810 0.06646 N 0.761989 T 0.03220 0.0094 N 0.00150 -1.985 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.36261 -0.9755 10 0.02654 T 1 . 9.9337 0.41539 0.3296:0.6704:0.0:0.0 rs2302422;rs28696070;rs62132679 290 Q8N743 KI3L3_HUMAN T 290 ENSP00000291860:N290T ENSP00000291860:N290T N + 2 0 KIR3DL3 59932984 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -2.413000 0.01038 -4.528000 0.00044 -3.196000 0.00055 AAC NOVEL KIR3DL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141147.1 1 12.638367 KEEP 0 0 0 42 1330 AA 1 1 0 + 13 60 467 0 0 29.091692 319 60 11163 427 ENST00000291860.1 0.039157 1 KIR3DL3 115653 __UNKNOWN__ __UNKNOWN__ 19 55247393 55247393 __UNKNOWN__ Intron SNP G G A rs80143115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55247393G>A ENST00000291860.1 + 8 1125 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) AAGAGTCCTGGAAAATGTGAG 0.537 NA .||| 146 0.0291534 0.0703 0.0259 5008 , , NA 12349 0.0 NA 0.0219 False NA ,,, NA NA NA 2504 0.0133 NA NA NA NA 0 88 97 94 NA NA 19 NA 55247393 1827 3837 5664 SO:0001627 intron_variant AF352324 CCDS12903.1 19q13.4 2014-05-22 ENSG00000242019 ENSG00000242019 115653 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 16312 protein-coding gene gene with protein product 610095 NA 11513144 Standard NM_153443 NM_153443 NA Approved KIRC1, KIR3DL7, KIR44, CD158z uc002qgu.1 Q8N743 OTTHUMG00000065884 ENST00000291860.1:c.1108-45G>A chr19.hg19:g.55247393G>A NA A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4 hg19 CCDS12903.1 0.02 10.688177 CTGxAAA COVERED NOVEL KIR3DL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141147.1 0 6.922356 KEEP 0 0 0 23 798 GG 0.999892 0.999892 0 + 9 60 323 0 0 19.232718 278 60 10030 347 ENST00000291860.1 0.031359 1 KIR3DL3 115653 __UNKNOWN__ __UNKNOWN__ 19 55247614 55247614 __UNKNOWN__ 3'UTR SNP T T C rs117959702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55247614T>C ENST00000291860.1 + 0 1302 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TTCTGTCCACTAGCACCACAG 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 122 129 127 NA NA 19 NA 55247614 1845 3887 5732 SO:0001624 3_prime_UTR_variant AF352324 CCDS12903.1 19q13.4 2014-05-22 ENSG00000242019 ENSG00000242019 115653 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 16312 protein-coding gene gene with protein product 610095 NA 11513144 Standard NM_153443 NM_153443 NA Approved KIRC1, KIR3DL7, KIR44, CD158z uc002qgu.1 Q8N743 OTTHUMG00000065884 ENST00000291860.1:c.*51T>C chr19.hg19:g.55247614T>C NA A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4 hg19 CCDS12903.1 0.02 28.206882 CACxAGC COVERED NOVEL KIR3DL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141147.1 4 12.033619 KEEP 0 0 0 40 1248 TT 1 1 0 + 23 60 853 0 0 53.396081 609 60 22163 802 ENST00000291860.1 0.036392 1 KIR3DL3 115653 __UNKNOWN__ __UNKNOWN__ 19 55247707 55247707 __UNKNOWN__ 3'UTR SNP C C A rs78830463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55247707C>A ENST00000291860.1 + 0 1395 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) AGCAGCTGGACTCTGAAGGCG 0.532 NA .||| 4 0.000798722 0.0015 0.0014 5008 , , NA 11873 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF352324 CCDS12903.1 19q13.4 2014-05-22 ENSG00000242019 ENSG00000242019 115653 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 16312 protein-coding gene gene with protein product 610095 NA 11513144 Standard NM_153443 NM_153443 NA Approved KIRC1, KIR3DL7, KIR44, CD158z uc002qgu.1 Q8N743 OTTHUMG00000065884 ENST00000291860.1:c.*144C>A chr19.hg19:g.55247707C>A NA A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4 hg19 CCDS12903.1 0.02 19.086993 GGAxTCT COVERED NOVEL KIR3DL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141147.1 1 6.320517 KEEP 0 0 0 21 746 CC 0.999869 0.999869 0 + 13 60 478 0 0 28.219415 455 60 16990 545 ENST00000291860.1 0.027778 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55250036 55250036 __UNKNOWN__ Missense_Mutation SNP T T C rs72487145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55250036T>C ENST00000342376.3 + 1 57 c.26T>C c.(25-27)gTg>gCg p.V9A KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.V9A|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 9 NA V -> A (in dbSNP:rs3810343). {ECO:0000269|PubMed:9059894, ECO:0000269|PubMed:9430221}. immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTCAGCATGGTGTGTGTTGGT 0.617 NA OREG0003673 type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay NA NA NA NA NA NA NA NA NA NA 0 129 146 141 NA NA 19 NA 55250036 2000 3958 5958 SO:0001583 missense L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.26T>C chr19.hg19:g.55250036T>C ENSP00000342215:p.Val9Ala 1006 O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 13.921838 TGGxGTG COVERED . . . . . . . . . . C 0.005 -2.237278 0.00277 . . ENSG00000243772 ENST00000342376;ENST00000434419 T;T 0.00470 7.2;7.22 0.109 0.109 0.14578 . . . . . T 0.00109 0.0003 N 0.00263 -1.745 0.09310 N 1 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.39961 -0.9588 8 0.02654 T 1 . . . . rs3810343;rs8108520;rs35997085 9;9 P43628-2;P43628 .;KI2L3_HUMAN A 9 ENSP00000342215:V9A;ENSP00000415758:V9A ENSP00000342215:V9A V + 2 0 KIR2DL3 59941848 0.000000 0.05858 0.018000 0.16275 0.018000 0.09664 -1.775000 0.01783 -1.157000 0.02815 -1.160000 0.01791 GTG NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 1 9.627595 KEEP 0 0 0 32 973 TT 0.999997 0.999997 0 + 28 60 957 0 0 68.947423 269 60 9363 419 ENST00000342376.3 0.094276 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55250061 55250061 __UNKNOWN__ Intron SNP C C A rs3810344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55250061C>A ENST00000342376.3 + 1 65 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CCTGGAAGGGCATCGAGGGAG 0.612 NA .||| 235 0.0469249 0.1014 0.0346 5008 , , NA 12845 0.0 NA 0.0229 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NA 0 145 170 162 NA NA 19 NA 55250061 1994 3953 5947 SO:0001627 intron_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.34+17C>A chr19.hg19:g.55250061C>A NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 10.744452 GGGxATC COVERED NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 1 9.93222 KEEP 0 0 0 33 1202 CC 0.999998 0.999998 0 + 26 60 898 0 0 63.996975 270 60 10150 413 ENST00000342376.3 0.087838 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55251825 55251825 __UNKNOWN__ Intron SNP A A C rs1951435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55251825A>C ENST00000342376.3 + 2 101 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TCAGTCTGTAAAAGGAAGGTG 0.522 NA .||| 1398 0.279153 0.3843 0.2075 5008 , , NA 9219 0.13 NA 0.4076 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.70+837A>C chr19.hg19:g.55251825A>C NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 2.112075 GTAxAAG COVERED NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 1 3.309514 KEEP 0 0 0 11 339 AA 0.993072 0.991948 0 + 4 60 153 0 0 10.381089 73 60 2639 104 ENST00000342376.3 0.051948 0.998867 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55253544 55253544 __UNKNOWN__ Silent SNP A A G rs77568304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55253544A>G ENST00000342376.3 + 3 220 c.189A>G c.(187-189)gaA>gaG p.E63E KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.E63E|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 63 Ig-like C2-type 1. NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TGCACAGAGAAGGGAAGTTTA 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 125 132 130 NA NA 19 NA 55253544 2001 3970 5971 SO:0001819 synonymous_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.189A>G chr19.hg19:g.55253544A>G NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 4.842982 AGAxGGG COVERED NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 0 3.009144 KEEP 2 0 0 10 322 AA 0.992708 0.992707 0 + 5 60 200 0 0 13.252821 121 60 4388 165 ENST00000342376.3 0.039683 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55253552 55253552 __UNKNOWN__ Missense_Mutation SNP T T A rs78713511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55253552T>A ENST00000342376.3 + 3 228 c.197T>A c.(196-198)tTt>tAt p.F66Y KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.F66Y|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 66 Ig-like C2-type 1. NA F -> Y (in dbSNP:rs673568). immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) p.F66Y(1) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GAAGGGAAGTTTAAGGACACT 0.522 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 136 146 143 NA NA 19 NA 55253552 2029 3991 6020 SO:0001583 missense L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.197T>A chr19.hg19:g.55253552T>A ENSP00000342215:p.Phe66Tyr NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 4.382579 AGTxTAA COVERED . . . . . . . . . . t 2.646 -0.283157 0.05642 . . ENSG00000243772 ENST00000342376;ENST00000434419 T;T 0.19806 4.04;2.12 1.6 -3.21 0.05140 Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . T 0.22589 0.0545 M 0.77616 2.38 0.09310 N 1 B;B;B;B 0.06786 0.0;0.001;0.0;0.0 B;B;B;B 0.17098 0.001;0.017;0.004;0.004 T 0.29181 -1.0020 9 0.51188 T 0.08 . 6.7505 0.23485 0.0:0.3278:0.0:0.6722 rs673568;rs1049285 66;66;66;66 E3NZD7;P43628-2;P43628;E3NZD8 .;.;KI2L3_HUMAN;. Y 66 ENSP00000342215:F66Y;ENSP00000415758:F66Y ENSP00000342215:F66Y F + 2 0 KIR2DL3 59945364 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -4.045000 0.00306 -1.218000 0.02601 -1.194000 0.01681 TTT NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 0 2.707913 KEEP 2 0 0 9 272 TT 0.99254 0.99254 0 + 5 60 186 0 0 11.736061 128 60 4516 174 ENST00000342376.3 0.037594 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55255290 55255290 __UNKNOWN__ Silent SNP C C T rs377026641 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55255290C>T ENST00000342376.3 + 4 449 c.418C>T c.(418-420)Ctg>Ttg p.L140L KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.L140L|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 140 NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CCCCACGGTTCTGGCAGGAGA 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 44 54 51 NA NA 19 NA 55255290 1203 2352 3555 SO:0001819 synonymous_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.418C>T chr19.hg19:g.55255290C>T NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 3.877763 GTTxTGG COVERED NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 2 6.621803 KEEP 35 0 0 22 803 CC 0.999859 0.999859 0 + 8 40 272 0 0 17.533341 139 55 5182 232 ENST00000342376.3 0.054422 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55255377 55255377 __UNKNOWN__ Missense_Mutation SNP C C T rs200686594 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55255377C>T ENST00000342376.3 + 4 536 c.505C>T c.(505-507)Cgt>Tgt p.R169C KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.R169C|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 169 Ig-like C2-type 2. NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) p.R169C(1) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GGCCCATGAACGTAGGTTCTC 0.607 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) lung(1) 15 18 17 NA NA 19 NA 55255377 1077 2189 3266 SO:0001583 missense L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.505C>T chr19.hg19:g.55255377C>T ENSP00000342215:p.Arg169Cys NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 8.745084 GAAxGTA COVERED . . . . . . . . . . C 2.151 -0.394400 0.04899 . . ENSG00000243772 ENST00000342376;ENST00000434419 T;T 0.00745 5.75;5.75 0.682 -0.523 0.11924 Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . T 0.00815 0.0027 L 0.41573 1.285 0.09310 N 1 B;B;B 0.16166 0.016;0.008;0.008 B;B;B 0.15484 0.013;0.003;0.003 T 0.44314 -0.9336 8 0.52906 T 0.07 . . . . . 169;169;169 E3NZD7;P43628;E3NZD8 .;KI2L3_HUMAN;. C 169 ENSP00000342215:R169C;ENSP00000415758:R169C ENSP00000342215:R169C R + 1 0 KIR2DL3 59947189 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.861000 0.01654 -0.175000 0.10725 0.184000 0.17185 CGT NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 0 3.309872 KEEP 20 0 0 11 360 CC 0.99257 0.99257 0 + 8 49 296 0 0 18.731962 198 50 6977 268 ENST00000342376.3 0.038835 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55255490 55255490 __UNKNOWN__ Silent SNP A A C rs199633983 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55255490A>C ENST00000342376.3 + 4 649 c.618A>C c.(616-618)ccA>ccC p.P206P KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.P206P|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 206 NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTGACTCTCCATACGAGTGGT 0.547 NA .||| 13 0.00259585 0.0008 0.0029 5008 , , NA 11957 0.001 NA 0.008 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 3 3 3 NA NA 19 NA 55255490 691 1614 2305 SO:0001819 synonymous_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.618A>C chr19.hg19:g.55255490A>C NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 14.386105 TCCxTAC COVERED NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 0 9.328266 KEEP 1 0 0 31 980 AA 0.999997 0.999997 0 + 13 60 493 0 0 31.63312 322 60 11844 436 ENST00000342376.3 0.038806 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55255493 55255493 __UNKNOWN__ Silent SNP C C T rs200751396 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55255493C>T ENST00000342376.3 + 4 652 c.621C>T c.(619-621)taC>taT p.Y207Y KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Silent_p.Y207Y|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_015868.2 NP_056952.2 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 207 NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) ACTCTCCATACGAGTGGTCAA 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 3 3 3 NA NA 19 NA 55255493 676 1592 2268 SO:0001819 synonymous_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000342376.3:c.621C>T chr19.hg19:g.55255493C>T NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 CCDS33107.1 0.02 12.970962 ATAxGAG COVERED NOVEL KIR2DL3-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000141150.1 0 9.330184 KEEP 1 0 0 31 1092 CC 0.999997 0.999997 0 + 13 60 492 0 0 31.497512 324 60 11424 440 ENST00000342376.3 0.038576 1 KIR2DL3 3804 __UNKNOWN__ __UNKNOWN__ 19 55271931 55271931 __UNKNOWN__ Intron SNP C C T rs371985010 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55271931C>T ENST00000434419.2 + 5 693 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) antigen binding (GO:0003823)|receptor activity (GO:0004872) breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 21 GBM - Glioblastoma multiforme(193;0.0192) CCCCACGGTTCTGGCAGGAGA 0.567 NA .||| 1 0.000199681 0.0 0.0 5008 , , NA 17237 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41268 CCDS33107.1 19q13.4 2013-01-29 ENSG00000243772 3804 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6331 protein-coding gene gene with protein product 604938 NA 7749980, 8662091 Standard XM_006725426 NA Approved cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2 P43628 OTTHUMG00000065887 ENST00000434419.2:c.665-3412C>T chr19.hg19:g.55271931C>T NA O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70 hg19 0.02 6.45461 GTTxTGG COVERED NOVEL KIR2DL3-201 KNOWN basic|appris_principal protein_coding NA protein_coding 1 3.91234 KEEP 34 0 0 13 451 CC 0.99257 0.99257 0 + 6 40 225 0 0 14.125218 162 60 6132 259 ENST00000434419.2 0.035714 1 KIR2DL1 3802 __UNKNOWN__ __UNKNOWN__ 19 55295489 55295489 __UNKNOWN__ 3'UTR SNP A A G rs598922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55295489A>G ENST00000336077.6 + 0 1311 KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_3'UTR|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|natural killer cell inhibitory signaling pathway (GO:0002769)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) receptor activity (GO:0004872) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CCTTTGCTTAACCCACAGTTC 0.483 NA NA NA NA NA NA NA NA NA NA GBM(72;624 1217 3963 34152 38303) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L41267 CCDS12904.1 19q13.4 2013-01-29 ENSG00000125498 ENSG00000125498 3802 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6329 protein-coding gene gene with protein product 604936 NA 7749980, 7716543 Standard NM_014218 NA Approved cl-42, nkat1, 47.11, p58.1, CD158A uc002qhb.1 P43626 OTTHUMG00000065885 ENST00000336077.6:c.*224A>G chr19.hg19:g.55295489A>G NA O43470|Q32WE6|Q6IST4 hg19 CCDS12904.1 0.02 20.727261 TTAxCCC COVERED NOVEL KIR2DL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141148.2 6 9.728673 KEEP 0 3 108 70 2161 AA 1 1 0 + 13 49 501 0 0 30.588232 449 60 15874 659 ENST00000336077.6 0.028139 1 KIR2DL4 3805 __UNKNOWN__ __UNKNOWN__ 19 55325241 55325241 __UNKNOWN__ Intron SNP A A T rs386810978|rs386810979|rs143418680 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55325241A>T ENST00000359085.4 + 7 904 KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000463062.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000538269.1_Intron NM_001080772.1|NM_002255.5 NP_001074241.1|NP_002246.5 Q99706 KI2L4_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 NA NA cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) TCTTATTCCGAAATAGTCCTG 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 99 126 119 NA NA 19 NA 55325241 1200 3388 4588 SO:0001627 intron_variant X97229 CCDS42619.1, CCDS42620.1 19q13.4 2013-01-29 ENSG00000189013 3805 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6332 protein-coding gene gene with protein product 604945 NA 8946682 Standard NM_001080772 NA Approved 103AS, 15.212, CD158D Q99706 OTTHUMG00000065880 ENST00000359085.4:c.819+44A>T chr19.hg19:g.55325241A>T NA A8W795|O14621|O14622|O14623|O14624|O43534|P78400|P78401|Q8N738|Q99559|Q99560|Q99561|Q99562|Q9UQJ7 hg19 CCDS42620.1 0.02 20.724058 CCGxAAT COVERED NOVEL KIR2DL4-001 PUTATIVE basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141136.1 4 3.375506 KEEP 0 2 62 33 996 AA 0.999999 0.999999 0 + 30 60 1104 0 0 76.16855 444 60 16043 598 ENST00000359085.4 0.063291 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55327930 55327930 __UNKNOWN__ 5'UTR SNP A A G rs34583400 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55327930A>G ENST00000391728.4 + 0 8 KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GCTGGGGCGCAGCCGCCTGTC 0.612 NA OREG0003676 type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay a||| 1869 0.373203 0.4501 0.33 5008 , , NA 6623 0.6121 NA 0.1759 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 18 24 22 NA NA 19 NA 55327930 1088 3250 4338 SO:0001623 5_prime_UTR_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.-26A>G chr19.hg19:g.55327930A>G 1007 O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 11.171832 CGCxGCC COVERED NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 1 10.766949 KEEP 1 1 35 48 1498 AA 1 1 0 + 15 40 499 0 0 31.929593 255 60 8961 380 ENST00000391728.4 0.055556 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55327960 55327960 __UNKNOWN__ Missense_Mutation SNP C C T rs605219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55327960C>T ENST00000391728.4 + 1 38 c.5C>T c.(4-6)tCg>tTg p.S2L KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S2L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.S2L|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 2 NA S -> L (in dbSNP:rs605219). immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) AGCACCATGTCGCTCATGGTC 0.597 NA OREG0003676 type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay t||| 1829 0.365216 0.4327 0.3271 5008 , , NA 7095 0.6002 NA 0.174 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 30 39 36 NA NA 19 NA 55327960 1107 3277 4384 SO:0001583 missense L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.5C>T chr19.hg19:g.55327960C>T ENSP00000375608:p.Ser2Leu 1007 O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 13.959073 TGTxGCT COVERED . . . . . . . . . . C 9.183 1.024000 0.19433 . . ENSG00000167633 ENST00000391728;ENST00000326542;ENST00000358178 T;T;T 0.00493 7.08;7.14;7.0 0.388 0.388 0.16264 . . . . . T 0.01061 0.0035 M 0.61703 1.905 0.29242 P 0.872557 B;D;B 0.61697 0.045;0.99;0.233 B;D;B 0.66847 0.008;0.947;0.039 T 0.55244 -0.8171 7 0.35671 T 0.21 . . . . rs605219;rs1049297;rs3189442;rs34986537 2;2;2 Q14946;F6QF33;P43629 .;.;KI3L1_HUMAN L 2 ENSP00000375608:S2L;ENSP00000326868:S2L;ENSP00000350901:S2L ENSP00000326868:S2L S + 2 0 KIR3DL1 60019772 0.000000 0.05858 0.069000 0.20011 0.070000 0.16714 -0.080000 0.11339 0.444000 0.26612 0.194000 0.17425 TCG NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 0 4.619136 KEEP 1 3 90 47 1677 CC 1 1 0 + 17 60 628 0 0 42.483726 286 60 10239 458 ENST00000391728.4 0.056106 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55329783 55329783 __UNKNOWN__ Silent SNP A A G rs642893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55329783A>G ENST00000391728.4 + 3 117 c.84A>G c.(82-84)aaA>aaG p.K28K KIR3DL1_ENST00000326542.7_Silent_p.K28K|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Silent_p.K28K|KIR3DL1_ENST00000541392.1_Silent_p.K28K|KIR3DL1_ENST00000538269.1_Silent_p.K28K NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 28 NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GTCAGGACAAACCCTTCCTGT 0.562 NA g||| 2731 0.545327 0.618 0.5216 5008 , , NA 10389 0.753 NA 0.3489 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 43 67 59 NA NA 19 NA 55329783 1826 3788 5614 SO:0001819 synonymous_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.84A>G chr19.hg19:g.55329783A>G NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 6.376207 CAAxCCC COVERED NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 0 5.416831 KEEP 0 0 0 18 583 AA 0.999859 0.999859 0 + 6 60 219 0 0 13.330828 175 60 6166 227 ENST00000391728.4 0.033149 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55329901 55329901 __UNKNOWN__ Missense_Mutation SNP A A G rs643347 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55329901A>G ENST00000391728.4 + 3 235 c.202A>G c.(202-204)Att>Gtt p.I68V KIR3DL1_ENST00000326542.7_Missense_Mutation_p.I68V|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.I68V|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.I68V|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.I68V NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 68 Ig-like C2-type 1. NA I -> V (in dbSNP:rs45556431). immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CAGAATCCACATTCCCATCTT 0.502 NA g||| 2956 0.590256 0.7269 0.5548 5008 , , NA 13551 0.7679 NA 0.3688 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 G VAL/ILE 2115,2199 933,249,975 64 95 84 202 0.2 0 19 dbSNP_83 84 1808,6410 751,306,3052 yes missense KIR3DL1 NM_013289.2 29 1684,555,4027 GG,GA,AA 22.0005,49.0264,31.3039 68/445 55329901 3923,8609 2157 4109 6266 SO:0001583 missense L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.202A>G chr19.hg19:g.55329901A>G ENSP00000375608:p.Ile68Val NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 19.565742 CACxTTC COVERED . . . . . . . . . . a 0 -2.601903 0.00123 0.490264 0.220005 ENSG00000167633 ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542 T;T;T;T;T 0.00724 5.78;5.78;5.78;5.78;5.78 1.25 0.163 0.14986 Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 N 0.00980 -1.08 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.21690 -1.0238 8 0.02654 T 1 . 3.8966 0.09143 0.4932:0.0:0.5068:0.0 rs643347;rs2984213;rs3189238;rs56999890 68;68 F6QF33;P43629 .;KI3L1_HUMAN V 68;68;68;46;68;68 ENSP00000384528:I68V;ENSP00000443350:I68V;ENSP00000442355:I68V;ENSP00000375608:I68V;ENSP00000326868:I68V ENSP00000326868:I68V I + 1 0 KIR3DL1 60021713 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.993000 0.01475 -0.265000 0.09352 -1.160000 0.01791 ATT NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 1 8.561346 KEEP 0 1 36 41 1284 AA 1 1 0 + 13 60 466 0 0 27.176271 443 60 16418 628 ENST00000391728.4 0.028509 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55329922 55329922 __UNKNOWN__ Missense_Mutation SNP A A T rs1049150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55329922A>T ENST00000391728.4 + 3 256 c.223A>T c.(223-225)Ata>Tta p.I75L KIR3DL1_ENST00000326542.7_Missense_Mutation_p.I75L|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.I75L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.I75L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.I75L NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 75 Ig-like C2-type 1. NA I -> L (in dbSNP:rs1049150). immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CCATGGCAGAATATTCCAGGA 0.502 NA a||| 2960 0.591054 0.7284 0.5548 5008 , , NA 13827 0.7679 NA 0.3708 False NA ,,, NA NA NA 2504 0.4755 NA NA NA NA 0 A LEU/ILE 2877,1471 1110,657,407 92 103 99 223 -2.3 0 19 dbSNP_86 99 2857,5383 929,999,2192 yes missense KIR3DL1 NM_013289.2 5 2039,1656,2599 TT,TA,AA 34.6723,33.8316,45.5513 75/445 55329922 5734,6854 2174 4120 6294 SO:0001583 missense L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.223A>T chr19.hg19:g.55329922A>T ENSP00000375608:p.Ile75Leu NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 17.630918 AGAxTAT COVERED . . . . . . . . . . - 2.863 -0.235718 0.05944 0.661684 0.346723 ENSG00000167633 ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542 T;T;T;T;T 0.11495 2.77;2.77;2.77;2.77;2.77 1.25 -2.26 0.06867 Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1); . . . . T 0.00012 0.0000 L 0.56199 1.76 0.80722 P 0.0 B;B 0.21520 0.057;0.0 P;B 0.54629 0.757;0.007 T 0.48896 -0.8994 8 0.48119 T 0.1 . 2.0951 0.03666 0.4108:0.2966:0.0:0.2927 rs1049150;rs3189240;rs11670412;rs16986032;rs57228949 75;75 F6QF33;P43629 .;KI3L1_HUMAN L 75;75;75;53;75;75 ENSP00000384528:I75L;ENSP00000443350:I75L;ENSP00000442355:I75L;ENSP00000375608:I75L;ENSP00000326868:I75L ENSP00000326868:I75L I + 1 0 KIR3DL1 60021734 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 -1.200000 0.03029 -0.748000 0.04753 0.155000 0.16302 ATA NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 1 7.356404 KEEP 0 1 33 36 1143 AA 1 1 0 + 12 60 440 0 0 25.995353 415 60 15315 603 ENST00000391728.4 0.028103 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55341575 55341575 __UNKNOWN__ Missense_Mutation SNP G G C rs1130513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55341575G>C ENST00000391728.4 + 9 1213 c.1180G>C c.(1180-1182)Gag>Cag p.E394Q KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E377Q|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E299Q|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E377Q|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E394Q NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 394 NA E -> Q (in dbSNP:rs1130513). immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) ACAAGACCCTGAGGAGGTGAC 0.522 NA c||| 884 0.176518 0.1815 0.1758 5008 , , NA 15583 0.1111 NA 0.2942 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 C GLN/GLU 897,3447 194,509,1469 237 218 225 1180 0.7 0 19 dbSNP_86 225 2044,6284 538,968,2658 no missense KIR3DL1 NM_013289.2 29 732,1477,4127 CC,CG,GG 24.5437,20.6492,23.2086 394/445 55341575 2941,9731 2172 4164 6336 SO:0001583 missense L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.1180G>C chr19.hg19:g.55341575G>C ENSP00000375608:p.Glu394Gln NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 14.177527 CCTxAGG COVERED 376 0.17216117216117216 65 0.13211382113821138 58 0.16022099447513813 54 0.0944055944055944 199 0.262532981530343 - 0.003 -2.458893 0.00173 0.206492 0.245437 ENSG00000167633 ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178 T;T;T;T;T 0.00475 7.26;7.37;7.26;7.37;7.17 0.719 0.719 0.18208 . . . . . T 0.00012 0.0000 N 0.00085 -2.2 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.26155 -1.0111 7 0.02654 T 1 . . . . rs1130513;rs3189435;rs16986003 377;299;394 Q15702;Q14946;P43629 .;.;KI3L1_HUMAN Q 394;377;372;394;377;299 ENSP00000443350:E394Q;ENSP00000442355:E377Q;ENSP00000375608:E394Q;ENSP00000326868:E377Q;ENSP00000350901:E299Q ENSP00000326868:E377Q E + 1 0 KIR3DL1 60033387 0.139000 0.22563 0.002000 0.10522 0.006000 0.05464 0.000000 0.12993 -0.105000 0.12132 -1.123000 0.02005 GAG NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 3 11.135633 KEEP 0 0 0 37 1290 GG 1 1 0 + 12 60 463 0 0 29.565813 323 60 12189 423 ENST00000391728.4 0.035821 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55341589 55341589 __UNKNOWN__ Silent SNP C C T rs112943025 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55341589C>T ENST00000391728.4 + 9 1227 c.1194C>T c.(1192-1194)taC>taT p.Y398Y KIR3DL1_ENST00000326542.7_Silent_p.Y381Y|KIR3DL1_ENST00000358178.4_Silent_p.Y303Y|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Silent_p.Y381Y|KIR3DL1_ENST00000538269.1_Silent_p.Y398Y NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 398 NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) AGGTGACATACGCACAGTTGG 0.517 NA .||| 324 0.0646965 0.0658 0.0274 5008 , , NA 15673 0.1101 NA 0.0457 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 T 332,4010 56,220,1895 261 237 245 1194 -1.4 0 19 dbSNP_132 245 316,8024 64,188,3918 no coding-synonymous KIR3DL1 NM_013289.2 120,408,5813 TT,TC,CC 3.789,7.6462,5.1096 398/445 55341589 648,12034 2171 4170 6341 SO:0001819 synonymous_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.1194C>T chr19.hg19:g.55341589C>T NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 15.234233 ATAxGCA COVERED NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 2 9.063339 KEEP 1 1 31 41 1405 CC 1 1 0 + 13 60 477 0 0 29.417821 360 60 12914 483 ENST00000391728.4 0.034853 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55341840 55341840 __UNKNOWN__ 3'UTR SNP T T G rs147136106 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55341840T>G ENST00000391728.4 + 0 1478 KIR3DL1_ENST00000326542.7_3'UTR|KIR3DL1_ENST00000358178.4_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_3'UTR|KIR3DL1_ENST00000538269.1_3'UTR NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GCGTGAGTCTTCATCTTAGGG 0.532 NA .||| 107 0.0213658 0.0008 0.0014 5008 , , NA 16657 0.1012 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.*110T>G chr19.hg19:g.55341840T>G NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 20.409828 TCTxCAT COVERED NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 0 9.626565 KEEP 0 0 0 32 966 TT 0.999997 0.999997 0 + 16 60 591 0 0 36.180562 472 60 16945 601 ENST00000391728.4 0.032787 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55342042 55342042 __UNKNOWN__ 3'UTR SNP G G T rs4806581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55342042G>T ENST00000391728.4 + 0 1680 KIR3DL1_ENST00000326542.7_3'UTR|KIR3DL1_ENST00000358178.4_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_3'UTR|KIR3DL1_ENST00000538269.1_3'UTR NM_013289.2 NP_037421.2 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) tcacactgaggaactcacaat 0.498 NA .||| 261 0.0521166 0.0514 0.0216 5008 , , NA 15441 0.0833 NA 0.0368 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000391728.4:c.*312G>T chr19.hg19:g.55342042G>T NA O43473|Q14946|Q16541 hg19 CCDS42621.1 0.02 15.216762 GAGxAAC COVERED NOVEL KIR3DL1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000141238.1 1 9.931905 KEEP 6 0 0 33 1138 GG 0.999997 0.999997 0 + 16 60 564 0 0 35.353897 360 60 13367 458 ENST00000391728.4 0.042553 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55349264 55349264 __UNKNOWN__ Intron SNP G G A rs115093949 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55349264G>A ENST00000402254.2 + 6 1033 KIR2DS4_ENST00000339924.8_RNA P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CAGATGCTACGGTTCTGTTCC 0.507 NA .||| 262 0.0523163 0.0514 0.0231 5008 , , NA 17779 0.0823 NA 0.0358 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 G SER/GLY 298,4056 51,196,1930 362 305 324 304 0.2 0 19 dbSNP_132 324 314,8086 64,186,3950 yes missense KIR2DS4 NM_012314.3 56 115,382,5880 AA,AG,GG 3.7381,6.8443,4.7985 102/305 55349264 612,12142 2177 4200 6377 SO:0001627 intron_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000402254.2:c.1000+12731G>A chr19.hg19:g.55349264G>A NA O43473|Q14946|Q16541 hg19 0.02 9.434403 TACxGTT COVERED NOVEL KIR3DL1-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 1 3.611652 KEEP 0 0 0 12 421 GG 0.993634 0.993634 0 + 8 60 295 0 0 18.618471 199 60 7236 254 ENST00000402254.2 0.038647 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55359426 55359426 __UNKNOWN__ Intron SNP A A G rs74623998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55359426A>G ENST00000402254.2 + 7 1033 KIR2DS4_ENST00000339924.8_RNA P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) CACACAGAGAAAAATCACTCG 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000402254.2:c.1001-17834A>G chr19.hg19:g.55359426A>G NA O43473|Q14946|Q16541 hg19 0.02 24.490121 AGAxAAA COVERED NOVEL KIR3DL1-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 2 12.335279 KEEP 0 0 0 41 1290 AA 1 1 0 + 22 60 829 0 0 52.629837 567 60 20456 758 ENST00000402254.2 0.037351 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55359436 55359436 __UNKNOWN__ Intron SNP G G C rs139032132 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55359436G>C ENST00000402254.2 + 7 1033 KIR2DS4_ENST00000339924.8_RNA P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) AAAATCACTCGCCCTTCTGAG 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000402254.2:c.1001-17824G>C chr19.hg19:g.55359436G>C NA O43473|Q14946|Q16541 hg19 0.02 25.555277 CTCxCCC COVERED NOVEL KIR3DL1-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 2 8.661861 KEEP 0 1 29 39 1341 GG 1 1 0 + 19 60 673 0 0 39.603087 597 60 20784 794 ENST00000402254.2 0.030844 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55359444 55359444 __UNKNOWN__ Intron SNP G G C rs17173061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55359444G>C ENST00000402254.2 + 7 1033 KIR2DS4_ENST00000339924.8_RNA P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) TCGCCCTTCTGAGAGGCCCAA 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000402254.2:c.1001-17816G>C chr19.hg19:g.55359444G>C NA O43473|Q14946|Q16541 hg19 0.02 28.591741 TCTxAGA COVERED NOVEL KIR3DL1-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 3 4.185284 KEEP 0 2 69 38 1343 GG 1 1 0 + 19 60 746 0 0 46.476324 625 60 23975 829 ENST00000402254.2 0.029503 1 KIR3DL1 3811 __UNKNOWN__ __UNKNOWN__ 19 55359879 55359879 __UNKNOWN__ Intron SNP G G C rs200596651 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55359879G>C ENST00000402254.2 + 7 1033 KIR2DS4_ENST00000339924.8_RNA P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 NA NA immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) HLA-B specific inhibitory MHC class I receptor activity (GO:0030109) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) acaagaggctgcctcttaaca 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L41269 CCDS42621.1 19q13.4 2014-05-22 ENSG00000167633 ENSG00000167633 3811 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6338 protein-coding gene gene with protein product 604946 KIR NA 7716543, 7749980 Standard NM_013289 NM_013289 NA Approved cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2 P43629 OTTHUMG00000065933 ENST00000402254.2:c.1001-17381G>C chr19.hg19:g.55359879G>C NA O43473|Q14946|Q16541 hg19 0.02 11.155992 GCTxCCT COVERED NOVEL KIR3DL1-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 1 5.417689 KEEP 0 0 0 18 641 GG 0.999859 0.999859 0 + 12 60 450 0 0 29.162079 271 60 10165 318 ENST00000402254.2 0.042403 1 KIR3DL2 3812 __UNKNOWN__ __UNKNOWN__ 19 55363504 55363504 __UNKNOWN__ Missense_Mutation SNP G G A rs201009466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55363504G>A ENST00000326321.3 + 3 155 c.122G>A c.(121-123)cGa>cAa p.R41Q KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R41Q NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 41 NA cellular defense response (GO:0006968)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GTGGTGCCTCGAGGAGGACAC 0.567 NA .||| 293 0.0585064 0.0522 0.0259 5008 , , NA 10900 0.1052 NA 0.0487 False NA ,,, NA NA NA 2504 0.0521 NA NA NA NA 0 7 7 7 NA NA 19 NA 55363504 1969 3838 5807 SO:0001583 missense L41270 CCDS12906.1, CCDS58677.1 19q13.4 2014-05-22 ENSG00000240403 ENSG00000240403 3812 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6339 protein-coding gene gene with protein product 604947 NA 7716543, 8662091 Standard NM_006737 NA Approved cl-5, nkat4, nkat4a, nkat4b, CD158K uc002qho.4 P43630 OTTHUMG00000065935 ENST00000326321.3:c.122G>A chr19.hg19:g.55363504G>A ENSP00000325525:p.Arg41Gln NA Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368 hg19 CCDS12906.1 0.02 8.810554 CTCxAGG COVERED . . . . . . . . . . g 0.007 -1.968963 0.00457 . . ENSG00000240403 ENST00000326321;ENST00000270442 T;T 0.11495 2.77;2.77 1.62 -3.23 0.05109 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 2.815830 0.02570 N 0.097722 T 0.02267 0.0070 N 0.02011 -0.69 0.80722 P 0.0 B;P 0.43024 0.048;0.798 B;B 0.31614 0.007;0.133 T 0.39921 -0.9590 9 0.02654 T 1 . 0.8353 0.01139 0.3541:0.1675:0.3122:0.1662 rs3745893 41;41 Q95366;P43630 .;KI3L2_HUMAN Q 41 ENSP00000325525:R41Q;ENSP00000270442:R41Q ENSP00000270442:R41Q R + 2 0 KIR3DL2 60055316 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -5.419000 0.00124 -3.327000 0.00186 -2.742000 0.00126 CGA NOVEL KIR3DL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000141241.1 3 8.427115 KEEP 0 0 0 28 966 GG 0.999997 0.999997 0 + 8 60 303 0 0 18.832286 236 60 8131 322 ENST00000326321.3 0.032787 1 KIR3DL2 3812 __UNKNOWN__ __UNKNOWN__ 19 55365240 55365240 __UNKNOWN__ Missense_Mutation SNP C C A rs201239422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55365240C>A ENST00000326321.3 + 4 427 c.394C>A c.(394-396)Ccc>Acc p.P132T KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P132T NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 132 NA P -> T (in dbSNP:rs3745894). cellular defense response (GO:0006968)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) CCACCCAGGGCCCCTGCTGAA 0.507 NA .||| 270 0.0539137 0.0499 0.0274 5008 , , NA 12718 0.0903 NA 0.0457 False NA ,,, NA NA NA 2504 0.0491 NA NA NA NA 0 1 1 1 NA NA 19 NA 55365240 298 735 1033 SO:0001583 missense L41270 CCDS12906.1, CCDS58677.1 19q13.4 2014-05-22 ENSG00000240403 ENSG00000240403 3812 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6339 protein-coding gene gene with protein product 604947 NA 7716543, 8662091 Standard NM_006737 NA Approved cl-5, nkat4, nkat4a, nkat4b, CD158K uc002qho.4 P43630 OTTHUMG00000065935 ENST00000326321.3:c.394C>A chr19.hg19:g.55365240C>A ENSP00000325525:p.Pro132Thr NA Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368 hg19 CCDS12906.1 0.02 4.01251 GGGxCCC COVERED . . . . . . . . . . c 10.68 1.418747 0.25552 . . ENSG00000240403 ENST00000326321;ENST00000270442 T;T 0.03272 3.99;3.99 2.06 2.06 0.26882 Immunoglobulin-like fold (1); 0.251419 0.20429 U 0.092508 T 0.07593 0.0191 M 0.86178 2.8 0.09310 N 1 P;B 0.34800 0.469;0.058 B;B 0.36244 0.22;0.031 T 0.10543 -1.0625 10 0.72032 D 0.01 . 7.53 0.27677 0.0:1.0:0.0:0.0 rs3745894 132;132 Q95366;P43630 .;KI3L2_HUMAN T 132 ENSP00000325525:P132T;ENSP00000270442:P132T ENSP00000270442:P132T P + 1 0 KIR3DL2 60057052 0.000000 0.05858 0.004000 0.12327 0.002000 0.02628 0.437000 0.21543 1.153000 0.42468 0.195000 0.17529 CCC NOVEL KIR3DL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000141241.1 0 2.708908 KEEP 0 0 0 9 324 CC 0.99254 0.992533 0 + 6 60 205 0 0 13.259174 104 60 3823 127 ENST00000326321.3 0.054545 0.999993 KIR3DL2 3812 __UNKNOWN__ __UNKNOWN__ 19 55377813 55377813 __UNKNOWN__ Intron SNP C C T rs61420363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55377813C>T ENST00000326321.3 + 8 1138 KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Intron NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 NA NA cellular defense response (GO:0006968)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TGATGACTTCCGTCTCCTACA 0.582 NA .||| 256 0.0511182 0.0469 0.0274 5008 , , NA 18245 0.0883 NA 0.0388 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 C 261,4145 151.4+/-185.3 9,243,1951 117 117 117 -1.2 0 19 dbSNP_129 117 282,8318 104.8+/-165.8 11,260,4029 no intron KIR3DL2 NM_006737.3 20,503,5980 TT,TC,CC 3.2791,5.9237,4.175 55377813 543,12463 2203 4300 6503 SO:0001627 intron_variant L41270 CCDS12906.1, CCDS58677.1 19q13.4 2014-05-22 ENSG00000240403 ENSG00000240403 3812 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6339 protein-coding gene gene with protein product 604947 NA 7716543, 8662091 Standard NM_006737 NA Approved cl-5, nkat4, nkat4a, nkat4b, CD158K uc002qho.4 P43630 OTTHUMG00000065935 ENST00000326321.3:c.1106-12C>T chr19.hg19:g.55377813C>T NA Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368 hg19 CCDS12906.1 0.02 7.15096 TTCxGTC COVERED NOVEL KIR3DL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000141241.1 0 6.921902 KEEP 0 0 0 23 787 CC 0.999892 0.999892 0 + 9 60 343 0 0 23.530084 152 60 5333 221 ENST00000326321.3 0.055901 1 KIR3DL2 3812 __UNKNOWN__ __UNKNOWN__ 19 55378083 55378083 __UNKNOWN__ Missense_Mutation SNP T T C rs58413124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55378083T>C ENST00000326321.3 + 9 1298 c.1265T>C c.(1264-1266)cTa>cCa p.L422P KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L422P|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.L405P NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 422 NA cellular defense response (GO:0006968)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) AAGACACCCCTAACAGATACC 0.522 NA .||| 257 0.0513179 0.0477 0.0274 5008 , , NA 19733 0.0883 NA 0.0388 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 T PRO/LEU 259,4147 150.3+/-184.3 9,241,1953 272 268 269 1265 -1.6 0 19 dbSNP_129 269 283,8317 105.0+/-166.0 11,261,4028 no missense KIR3DL2 NM_006737.3 98 20,502,5981 CC,CT,TT 3.2907,5.8783,4.1673 benign 422/456 55378083 542,12464 2203 4300 6503 SO:0001583 missense L41270 CCDS12906.1, CCDS58677.1 19q13.4 2014-05-22 ENSG00000240403 ENSG00000240403 3812 Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing 6339 protein-coding gene gene with protein product 604947 NA 7716543, 8662091 Standard NM_006737 NA Approved cl-5, nkat4, nkat4a, nkat4b, CD158K uc002qho.4 P43630 OTTHUMG00000065935 ENST00000326321.3:c.1265T>C chr19.hg19:g.55378083T>C ENSP00000325525:p.Leu422Pro NA Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368 hg19 CCDS12906.1 0.02 29.261308 CCCxAAC COVERED 115 0.052655677655677656 25 0.0508130081300813 8 0.022099447513812154 48 0.08391608391608392 34 0.044854881266490766 t 0 -2.793908 0.00077 0.058783 0.032907 ENSG00000167633;ENSG00000240403;ENSG00000240403 ENST00000402254;ENST00000326321;ENST00000270442 T;T;T 0.00463 7.29;7.25;7.26 1.05 -1.65 0.08291 . . . . . T 0.00012 0.0000 N 0.00022 -2.735 0.09310 N 1 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.06405 0.002;0.001;0.002 T 0.40156 -0.9578 9 0.02654 T 1 . 4.1114 0.10060 0.0:0.5225:0.0:0.4775 rs58413124 405;422;422 Q95366;P43630;F6QF33 .;KI3L2_HUMAN;. P 422;422;405 ENSP00000384528:L422P;ENSP00000325525:L422P;ENSP00000270442:L405P ENSP00000384528:L422P L + 2 0 KIR3DL1;KIR3DL2 60069895 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.178000 0.09782 -0.411000 0.07530 -0.689000 0.03729 CTA NOVEL KIR3DL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000141241.1 4 14.443874 KEEP 0 0 0 48 1516 TT 1 1 0 + 28 60 1015 0 0 65.856854 575 60 21014 809 ENST00000326321.3 0.046434 1 NLRP7 199713 __UNKNOWN__ __UNKNOWN__ 19 55470284 55470284 __UNKNOWN__ Intron SNP G G A rs2365586 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55470284G>A ENST00000588756.1 - 1 204 NLRP7_ENST00000446217.1_Intron Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 NA NA ATP binding (GO:0005524) autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) caggggtttcgtgcactgctg 0.453 NA .||| 993 0.198283 0.1823 0.1916 5008 , , NA 18228 0.3512 NA 0.1779 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF464765 CCDS12912.1, CCDS33109.1, CCDS46183.1 19q13.42 2008-02-05 2006-12-08 2006-12-08 ENSG00000167634 199713 Nucleotide-binding domain and leucine rich repeat containing 22947 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7 609661 NACHT, leucine rich repeat and PYD containing 7 NALP7 NA 12563287, 12019269 Standard NM_139176 NM_139176 NA Approved PYPAF3, NOD12, PAN7, CLR19.4 uc002qii.4 Q8WX94 ENST00000588756.1:c.282+7123C>T chr19.hg19:g.55470284G>A NA E9PE16|Q32MH8|Q7RTR1 hg19 CCDS46183.1 0.02 4.537944 TTCxTGC COVERED NOVEL NLRP7-001 KNOWN alternative_5_UTR|downstream_ATG|basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000451324.2 0 3.310809 KEEP 0 0 0 11 389 GG 0.993072 0.993072 0 - 6 60 236 0 0 15.68928 135 60 4805 206 ENST00000588756.1 0.042553 1 EPS8L1 54869 __UNKNOWN__ __UNKNOWN__ 19 55593417 55593417 __UNKNOWN__ Intron SNP C C T rs17700138 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55593417C>T ENST00000201647.6 + 10 957 EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_Intron|EPS8L1_ENST00000592824.1_Intron NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 NA NA positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|T cell receptor binding (GO:0042608) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTGCCTGGTGCTGGCCCCGCG 0.701 NA C||| 635 0.126797 0.0666 0.1787 5008 , , NA 12115 0.1032 NA 0.2227 False NA ,,, NA NA NA 2504 0.0971 NA NA NA Ovarian(149;255 1863 3636 27051 29647) NA 0 C , 322,3948 25,272,1838 5 6 6 , 0.4 0 19 dbSNP_123 6 1595,6727 154,1287,2720 no intron,intron EPS8L1 NM_017729.3,NM_133180.2 , 179,1559,4558 TT,TC,CC 19.1661,7.541,15.224 , , 55593417 1917,10675 2135 4161 6296 SO:0001627 intron_variant AK057052 CCDS12914.1, CCDS12915.1 19q13.42 2008-02-05 ENSG00000131037 54869 21295 protein-coding gene gene with protein product 614987 NA 12620401 Standard NM_017729 NM_133180 NA Approved FLJ20258, DRC3, MGC23164, MGC4642 uc002qis.4 Q8TE68 ENST00000201647.6:c.902-43C>T chr19.hg19:g.55593417C>T NA Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0 hg19 CCDS12914.1 0.02 7.740143 GTGxTGG COVERED NOVEL EPS8L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451713.1 3 29.629365 KEEP 0 1 33 110 3848 CC 1 1 0 + 7 60 248 0 0 14.397799 234 60 8648 406 ENST00000201647.6 0.029046 1 EPS8L1 54869 __UNKNOWN__ __UNKNOWN__ 19 55594996 55594996 __UNKNOWN__ Missense_Mutation SNP C C G rs1628576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55594996C>G ENST00000201647.6 + 14 1425 c.1369C>G c.(1369-1371)Cag>Gag p.Q457E EPS8L1_ENST00000588359.1_Missense_Mutation_p.Q143E|EPS8L1_ENST00000586329.1_Missense_Mutation_p.Q471E|EPS8L1_ENST00000540810.1_Missense_Mutation_p.Q393E|EPS8L1_ENST00000245618.5_Missense_Mutation_p.Q330E|EPS8L1_ENST00000592824.1_3'UTR NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 457 NA Q -> E (in dbSNP:rs1628576). {ECO:0000269|PubMed:12620401, ECO:0000269|PubMed:15498874}. positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|T cell receptor binding (GO:0042608) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AAGCGCCCCCCAGGTCGCTGT 0.701 NA C||| 659 0.131589 0.0847 0.1801 5008 , , NA 10389 0.1012 NA 0.2237 False NA ,,, NA NA NA 2504 0.0971 NA NA NA Ovarian(149;255 1863 3636 27051 29647) NA 0 C GLU/GLN,GLU/GLN 364,3978 30,304,1837 7 8 8 988,1369 2.8 1 19 dbSNP_89 8 1622,6896 171,1280,2808 yes missense,missense EPS8L1 NM_017729.3,NM_133180.2 29,29 201,1584,4645 GG,GC,CC 19.042,8.3832,15.4432 benign,benign 330/597,457/724 55594996 1986,10874 2171 4259 6430 SO:0001583 missense AK057052 CCDS12914.1, CCDS12915.1 19q13.42 2008-02-05 ENSG00000131037 54869 21295 protein-coding gene gene with protein product 614987 NA 12620401 Standard NM_017729 NM_133180 NA Approved FLJ20258, DRC3, MGC23164, MGC4642 uc002qis.4 Q8TE68 ENST00000201647.6:c.1369C>G chr19.hg19:g.55594996C>G ENSP00000201647:p.Gln457Glu NA Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0 hg19 CCDS12914.1 0.02 6.141465 CCCxAGG COVERED 336 0.15384615384615385 37 0.07520325203252033 68 0.1878453038674033 64 0.11188811188811189 167 0.22031662269129287 C 10.53 1.376645 0.24857 0.083832 0.19042 ENSG00000131037 ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118 T;T;T 0.05786 3.65;3.4;3.39 2.83 2.83 0.33086 . 8.307050 0.00166 N 0.000000 T 0.00012 0.0000 M 0.67953 2.075 0.32092 P 0.591758 P;B;P;B;P 0.52842 0.956;0.341;0.726;0.021;0.924 P;B;B;B;P 0.62184 0.899;0.217;0.231;0.029;0.857 T 0.39057 -0.9632 9 0.07175 T 0.84 -22.3553 9.2533 0.37568 0.0:1.0:0.0:0.0 rs1628576;rs1628576 393;471;236;330;457 B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68 .;.;.;.;ES8L1_HUMAN E 471;457;393;330;143 ENSP00000201647:Q457E;ENSP00000437541:Q393E;ENSP00000245618:Q330E ENSP00000201647:Q457E Q + 1 0 EPS8L1 60286808 0.794000 0.28838 1.000000 0.80357 0.993000 0.82548 1.444000 0.35068 1.615000 0.50252 0.561000 0.74099 CAG NOVEL EPS8L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000451713.1 0 22.874529 KEEP 0 0 0 76 2692 CC 1 1 0 + 7 60 243 0 0 14.714007 178 60 6844 335 ENST00000201647.6 0.037838 1 CTD-2105E13.6 0 __UNKNOWN__ __UNKNOWN__ 19 55866034 55866034 __UNKNOWN__ 3'UTR SNP G G A rs144649119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:55866034G>A ENST00000591954.3 - 0 1887 COX6B2_ENST00000589467.1_5'UTR|COX6B2_ENST00000326529.4_5'UTR|COX6B2_ENST00000588572.2_5'UTR|COX6B2_ENST00000593184.1_5'UTR NA NA NA GACGTTGGCGGCCACTGGATC 0.741 NA G||| 61 0.0121805 0.0 0.0 5008 , , NA 7501 0.0565 NA 0.003 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000591954.3:c.*470C>T chr19.hg19:g.55866034G>A NA hg19 0.02 1.808171 GCGxCCA COVERED NOVEL CTD-2105E13.6-002 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000466459.2 0 15.303898 KEEP 0 0 0 51 1787 GG 1 0.999804 0 - 7 60 247 0 0 17.400049 82 60 3027 189 ENST00000591954.3 0.078652 0.999804 NLRP9 338321 __UNKNOWN__ __UNKNOWN__ 19 56249672 56249672 __UNKNOWN__ Silent SNP A A G rs56211941 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56249672A>G ENST00000332836.2 - 1 96 c.69T>C c.(67-69)ttT>ttC p.F23F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 23 DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}. NA cytoplasm (GO:0005737) ATP binding (GO:0005524) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TAAATTTCCAAAACTCTTCCT 0.448 NA A||| 953 0.190296 0.0121 0.2349 5008 , , NA 15384 0.1786 NA 0.2068 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 A 162,4244 106.5+/-144.9 0,162,2041 120 128 125 69 0.5 0.4 19 dbSNP_129 125 1760,6840 316.8+/-312.9 191,1378,2731 no coding-synonymous NLRP9 NM_176820.2 191,1540,4772 GG,GA,AA 20.4651,3.6768,14.7778 23/992 56249672 1922,11084 2203 4300 6503 SO:0001819 synonymous_variant AY154464 CCDS12934.1 19q13.43 2006-12-08 2006-12-08 2006-12-08 338321 Nucleotide-binding domain and leucine rich repeat containing 22941 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9 609663 NACHT, leucine rich repeat and PYD containing 9 NALP9 NA 12563287 Standard NM_176820 NM_176820 NA Approved NOD6, PAN12, CLR19.1 uc002qly.3 Q7RTR0 ENST00000332836.2:c.69T>C chr19.hg19:g.56249672A>G NA B2RN12|Q86W27 hg19 CCDS12934.1 0.02 6.308727 CCAxAAC COVERED NOVEL NLRP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453653.1 0 7.221236 KEEP 0 0 0 24 743 AA 0.999909 0.999909 0 - 6 60 231 0 0 14.263089 194 60 6994 266 ENST00000332836.2 0.03 1 RFPL4A 342931 __UNKNOWN__ __UNKNOWN__ 19 56274453 56274453 __UNKNOWN__ Missense_Mutation SNP G G A rs75239380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56274453G>A ENST00000434937.2 + 3 947 c.776G>A c.(775-777)gGa>gAa p.G259E NM_001145014.1 NP_001138486.1 A6NLU0 RFPLA_HUMAN ret finger protein-like 4A 259 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA zinc ion binding (GO:0008270) p.G259E(1) haematopoietic_and_lymphoid_tissue(1)|stomach(1) 2 CATAAACGTGGAAGTCAAGAT 0.438 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) stomach(1) 18 22 21 NA NA 19 NA 56274453 691 1590 2281 SO:0001583 missense CCDS46201.1 19q13.42 2013-02-22 2007-01-19 2007-01-19 ENSG00000223638 ENSG00000223638 342931 RING-type (C3HC4) zinc fingers 16449 protein-coding gene gene with protein product 612601 ret finger protein-like 4 RFPL4 NA 11850190 Standard XM_292796 NM_001145014 NA Approved RNF210 uc010yge.2 A6NLU0 OTTHUMG00000165449 ENST00000434937.2:c.776G>A chr19.hg19:g.56274453G>A ENSP00000392936:p.Gly259Glu NA hg19 CCDS46201.1 0.02 30.781478 GTGxAAG COVERED . . . . . . . . . . G 0.014 -1.580299 0.00879 . . ENSG00000223638 ENST00000434937 T 0.62498 0.02 2.78 -5.56 0.02529 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1); . . . . T 0.24928 0.0605 N 0.01751 -0.74 0.80722 P 0.0 B 0.09022 0.002 B 0.13407 0.009 T 0.10776 -1.0615 8 0.25751 T 0.34 -12.9296 1.2915 0.02061 0.279:0.1414:0.3715:0.2082 . 259 A6NLU0 RFPLA_HUMAN E 259 ENSP00000392936:G259E ENSP00000392936:G259E G + 2 0 RFPL4A 60966265 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.179000 0.03090 -1.696000 0.01421 -1.408000 0.01128 GGA NOVEL RFPL4A-001 NOVEL upstream_ATG|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384184.1 3 6.6355 KEEP 165 6 206 94 3284 GG 1 1 0 + 31 49 1127 0 0 71.910847 694 50 25951 1140 ENST00000434937.2 0.042759 1 RFPL4AL1 729974 __UNKNOWN__ __UNKNOWN__ 19 56283029 56283029 __UNKNOWN__ Intron SNP A A G rs78462763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56283029A>G ENST00000341750.4 + 2 35 NM_001277397.1 NP_001264326.1 F8VTS6 RFAL1_HUMAN ret finger protein-like 4A-like 1 NA NA zinc ion binding (GO:0008270) NA TTGTGTCTTCATCACTAGCAG 0.393 NA A||| 1156 0.230831 0.1634 0.3026 5008 , , NA 27388 0.2242 NA 0.3171 False NA ,,, NA NA NA 2504 0.1892 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS59425.1 19q13.42 2013-02-22 ENSG00000229292 ENSG00000229292 729974 45147 protein-coding gene gene with protein product NA Standard NM_001277397 NA Approved uc031rnc.1 F8VTS6 OTTHUMG00000165450 ENST00000341750.4:c.-9-133A>G chr19.hg19:g.56283029A>G NA hg19 CCDS59425.1 0.02 17.833167 TTCxTCA COVERED NOVEL RFPL4AL1-001 NOVEL not_best_in_genome_evidence|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000384186.1 2 6.317908 KEEP 1 0 0 21 632 AA 0.999869 0.999869 0 + 23 40 772 0 0 48.744987 429 60 15456 478 ENST00000341750.4 0.050885 1 NLRP11 204801 __UNKNOWN__ __UNKNOWN__ 19 56320200 56320200 __UNKNOWN__ Silent SNP C C T rs16986626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56320200C>T ENST00000589093.1 - 3 1869 c.1776G>A c.(1774-1776)agG>agA p.R592R NLRP11_ENST00000589824.2_Silent_p.R592R|NLRP11_ENST00000360133.3_Silent_p.R592R|NLRP11_ENST00000443188.1_Silent_p.R592R|NLRP11_ENST00000592953.1_Silent_p.R493R P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 592 NA ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ACTTAAGTGTCCTCAGGTGAC 0.408 NA C||| 682 0.136182 0.1717 0.1499 5008 , , NA 21238 0.25 NA 0.0666 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 C 673,3733 284.6+/-277.7 57,559,1587 130 118 122 1776 0.1 0 19 dbSNP_123 122 397,8203 126.7+/-185.1 11,375,3914 no coding-synonymous NLRP11 NM_145007.3 68,934,5501 TT,TC,CC 4.6163,15.2746,8.227 592/1034 56320200 1070,11936 2203 4300 6503 SO:0001819 synonymous_variant AY095145 CCDS12935.1, CCDS74458.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000179873 204801 Nucleotide-binding domain and leucine rich repeat containing 22945 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 609664 NACHT, leucine rich repeat and PYD containing 11 NALP11 NA 12563287, 12019269 Standard NM_145007 NM_145007 NA Approved PYPAF6, NOD17, PAN10, CLR19.6 uc010ygf.2 P59045 ENST00000589093.1:c.1776G>A chr19.hg19:g.56320200C>T NA C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5 hg19 CCDS12935.1 0.02 6.215199 TGTxCTC COVERED NOVEL NLRP11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453657.1 2 5.417797 KEEP 0 0 0 18 647 CC 0.999859 0.999859 0 - 7 60 239 0 0 14.270542 181 60 6703 243 ENST00000589093.1 0.037234 1 NLRP11 204801 __UNKNOWN__ __UNKNOWN__ 19 56321295 56321295 __UNKNOWN__ Silent SNP G G A rs12977654 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56321295G>A ENST00000589093.1 - 3 774 c.681C>T c.(679-681)atC>atT p.I227I NLRP11_ENST00000589824.2_Silent_p.I227I|NLRP11_ENST00000360133.3_Silent_p.I227I|NLRP11_ENST00000443188.1_Silent_p.I227I|NLRP11_ENST00000592953.1_Silent_p.I128I P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 227 NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}. NA ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) AGTCCTCGAGGATGAAAAGGA 0.488 NA G||| 499 0.0996406 0.0257 0.111 5008 , , NA 20123 0.2371 NA 0.0606 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 G 138,4268 97.1+/-135.8 2,134,2067 84 82 83 681 0.2 0 19 dbSNP_121 83 446,8154 134.6+/-191.9 10,426,3864 no coding-synonymous NLRP11 NM_145007.3 12,560,5931 AA,AG,GG 5.186,3.1321,4.4902 227/1034 56321295 584,12422 2203 4300 6503 SO:0001819 synonymous_variant AY095145 CCDS12935.1, CCDS74458.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000179873 204801 Nucleotide-binding domain and leucine rich repeat containing 22945 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11 609664 NACHT, leucine rich repeat and PYD containing 11 NALP11 NA 12563287, 12019269 Standard NM_145007 NM_145007 NA Approved PYPAF6, NOD17, PAN10, CLR19.6 uc010ygf.2 P59045 ENST00000589093.1:c.681C>T chr19.hg19:g.56321295G>A NA C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5 hg19 CCDS12935.1 0.02 12.054441 GAGxATG COVERED NOVEL NLRP11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000453657.1 2 9.932269 KEEP 0 0 0 33 1166 GG 0.999998 0.999998 0 - 13 60 453 0 0 28.17883 292 60 10692 375 ENST00000589093.1 0.042623 1 NLRP4 147945 __UNKNOWN__ __UNKNOWN__ 19 56373462 56373462 __UNKNOWN__ Missense_Mutation SNP G G A rs12462372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56373462G>A ENST00000301295.6 + 5 2545 c.2123G>A c.(2122-2124)cGt>cAt p.R708H NLRP4_ENST00000346986.5_Missense_Mutation_p.R708H|NLRP4_ENST00000587891.1_Missense_Mutation_p.R633H NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 708 NA R -> H (in dbSNP:rs12462372). inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAACTCTCTCGTGATGACATC 0.473 NA G||| 528 0.105431 0.0038 0.1599 5008 , , NA 22235 0.2391 NA 0.0586 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 G HIS/ARG 59,4347 56.2+/-92.4 0,59,2144 143 128 133 2123 -6.5 0 19 dbSNP_120 133 407,8193 128.3+/-186.6 11,385,3904 yes missense NLRP4 NM_134444.4 29 11,444,6048 AA,AG,GG 4.7326,1.3391,3.583 benign 708/995 56373462 466,12540 2203 4300 6503 SO:0001583 missense AF479747 CCDS12936.1 19q13.43 2009-03-27 2006-12-08 2006-12-08 147945 Nucleotide-binding domain and leucine rich repeat containing 22943 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4, cancer/testis antigen 58 609645 NACHT, leucine rich repeat and PYD containing 4 NALP4 NA 12563287, 12019269 Standard NM_134444 NM_134444 NA Approved PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58 uc002qmd.4 Q96MN2 ENST00000301295.6:c.2123G>A chr19.hg19:g.56373462G>A ENSP00000301295:p.Arg708His NA Q86W87|Q96AY6 hg19 CCDS12936.1 0.02 11.40261 CTCxTGA COVERED 225 0.10302197802197802 3 0.006097560975609756 32 0.08839779005524862 142 0.24825174825174826 48 0.0633245382585752 G 0.018 -1.476288 0.01035 0.013391 0.047326 ENSG00000160505 ENST00000301295;ENST00000346986 T;T 0.53206 0.63;0.63 3.26 -6.52 0.01872 . . . . . T 0.00012 0.0000 N 0.05487 -0.04 0.80722 P 0.0 B;B;B 0.27882 0.037;0.183;0.192 B;B;B 0.21546 0.019;0.035;0.015 T 0.21518 -1.0243 8 0.23891 T 0.37 . 8.1119 0.30920 0.689:0.1268:0.1842:0.0 rs12462372;rs52792345;rs60975652;rs12462372 708;633;708 Q96MN2-2;Q96MN2-3;Q96MN2 .;.;NALP4_HUMAN H 708 ENSP00000301295:R708H;ENSP00000344787:R708H ENSP00000301295:R708H R + 2 0 NLRP4 61065274 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -2.408000 0.01042 -1.815000 0.01222 -0.251000 0.11542 CGT NOVEL NLRP4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457367.2 1 6.956668 KEEP 0 1 31 34 1151 GG 0.999999 0.999999 0 + 16 60 595 0 0 40.306564 272 60 9944 394 ENST00000301295.6 0.055556 1 NLRP13 126204 __UNKNOWN__ __UNKNOWN__ 19 56443519 56443519 __UNKNOWN__ Silent SNP C C T rs12610617 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56443519C>T ENST00000342929.3 - 1 158 c.159G>A c.(157-159)ccG>ccA p.P53P NLRP13_ENST00000588751.1_Silent_p.P53P NM_176810.2 NP_789780.2 Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 53 DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}. NA ATP binding (GO:0005524) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGGGGATACGCGGGAAGTGCC 0.552 NA C||| 497 0.0992412 0.1157 0.0447 5008 , , NA 18654 0.2609 NA 0.0109 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 C 391,4015 193.0+/-218.2 16,359,1828 57 60 59 159 -1.8 0 19 dbSNP_120 59 78,8522 43.6+/-101.6 0,78,4222 no coding-synonymous NLRP13 NM_176810.2 16,437,6050 TT,TC,CC 0.907,8.8743,3.606 53/1044 56443519 469,12537 2203 4300 6503 SO:0001819 synonymous_variant AY154468 CCDS33119.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000173572 ENSG00000173572 126204 Nucleotide-binding domain and leucine rich repeat containing 22937 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13 609660 NACHT, leucine rich repeat and PYD containing 13 NALP13 NA 12563287 Standard NM_176810 NM_176810 NA Approved NOD14, PAN13, CLR19.7 uc010ygg.2 Q86W25 OTTHUMG00000167839 ENST00000342929.3:c.159G>A chr19.hg19:g.56443519C>T NA Q7RTR5 hg19 CCDS33119.1 0.02 4.310041 ACGxGGG COVERED NOVEL NLRP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000396560.1 1 3.912477 KEEP 0 0 0 13 453 CC 0.994391 0.994391 0 - 5 60 188 0 0 11.937189 128 60 4463 183 ENST00000342929.3 0.037594 1 NLRP8 126205 __UNKNOWN__ __UNKNOWN__ 19 56499081 56499081 __UNKNOWN__ Intron SNP G G A rs116918966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56499081G>A ENST00000291971.3 + 10 3118 NLRP8_ENST00000590542.1_Intron NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 NA NA neuron death (GO:0070997) cytoplasm (GO:0005737) ATP binding (GO:0005524) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGAGGGGTACGGTCTGTAGAA 0.463 NA G||| 40 0.00798722 0.0 0.0 5008 , , NA 19140 0.0397 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY154463 CCDS12937.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000179709 126205 Nucleotide-binding domain and leucine rich repeat containing 22940 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8 609659 NACHT, leucine rich repeat and PYD containing 8 NALP8 NA 12563287 Standard NM_176811 NM_176811 NA Approved NOD16, PAN4, CLR19.2 uc002qmh.3 Q86W28 ENST00000291971.3:c.3048-99G>A chr19.hg19:g.56499081G>A NA Q7RTR4 hg19 CCDS12937.1 0.02 6.607747 TACxGTC COVERED NOVEL NLRP8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000457462.1 1 4.815333 KEEP 0 0 0 16 545 GG 0.997832 0.997832 0 + 9 60 306 0 0 19.821431 157 60 5107 202 ENST00000291971.3 0.054217 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 56511090 56511090 __UNKNOWN__ IGR SNP T T C rs76756220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56511090T>C NA NA NLRP8 (11095 upstream) : NLRP5 (1 downstream) NA NA NA ggcgatgttatcatgaaggtt 0.507 NA T||| 330 0.0658946 0.0295 0.0403 5008 , , NA 19288 0.2014 NA 0.0219 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 T 106,4004 1,104,1950 201 202 201 0.5 0 19 dbSNP_132 201 207,8183 1,205,3989 no near-gene-5 2,309,5939 CC,CT,TT 2.4672,2.5791,2.504 56511090 313,12187 2055 4195 6250 SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.56511090T>C NA hg19 0.02 4.334851 TTAxCAT COVERED NOVEL 0 2 5.717235 KEEP 0 0 0 19 599 TT 0.99986 0.999859 0 7 60 264 0 0 17.904174 123 60 4479 181 0.053846 1 NLRP5 126206 __UNKNOWN__ __UNKNOWN__ 19 56515334 56515334 __UNKNOWN__ Silent SNP C C T rs1560691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56515334C>T ENST00000390649.3 + 2 315 c.315C>T c.(313-315)aaC>aaT p.N105N NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 105 DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}. NA cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487) apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234) ATP binding (GO:0005524) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGAATGCCAACGTGGAATGTC 0.433 NA C||| 1007 0.201078 0.205 0.1744 5008 , , NA 23874 0.3264 NA 0.1332 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 C 727,3297 62,603,1347 87 85 85 315 -5.8 0 19 dbSNP_88 85 912,7452 56,800,3326 no coding-synonymous NLRP5 NM_153447.4 118,1403,4673 TT,TC,CC 10.9039,18.0666,13.2305 105/1201 56515334 1639,10749 2012 4182 6194 SO:0001819 synonymous_variant AY154460 CCDS12938.1 19q13.43 2008-10-30 2006-12-08 2006-12-08 ENSG00000171487 ENSG00000171487 126206 Nucleotide-binding domain and leucine rich repeat containing 21269 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 609658 NACHT, leucine rich repeat and PYD containing 5 NALP5 NA 12563287, 11925379 Standard NM_153447 NM_153447 NA Approved PYPAF8, MATER, PAN11, CLR19.8 uc002qmj.3 P59047 OTTHUMG00000149887 ENST00000390649.3:c.315C>T chr19.hg19:g.56515334C>T NA A8MTY4|Q86W29 hg19 CCDS12938.1 0.02 11.528948 CAAxGTG COVERED NOVEL NLRP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313735.1 3 6.318806 KEEP 0 0 0 21 699 CC 0.999869 0.999869 0 + 12 60 447 0 0 28.836863 273 60 9567 377 ENST00000390649.3 0.042105 1 NLRP5 126206 __UNKNOWN__ __UNKNOWN__ 19 56572832 56572832 __UNKNOWN__ Missense_Mutation SNP G G A rs10409555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56572832G>A ENST00000390649.3 + 15 3541 c.3541G>A c.(3541-3543)Gtc>Atc p.V1181I NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1181 NA V -> I (in dbSNP:rs10409555). cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487) apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234) ATP binding (GO:0005524) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CAAGCCCCGAGTCGTAATTGA 0.517 NA A||| 1797 0.358826 0.466 0.2277 5008 , , NA 19130 0.4415 NA 0.2575 False NA ,,, NA NA NA 2504 0.3262 NA NA NA NA 0 A ILE/VAL 1683,2261 356,971,645 133 130 131 3541 -6.7 0 19 dbSNP_119 131 2146,6148 278,1590,2279 yes missense NLRP5 NM_153447.4 29 634,2561,2924 AA,AG,GG 25.8741,42.6724,31.2878 benign 1181/1201 56572832 3829,8409 1972 4147 6119 SO:0001583 missense AY154460 CCDS12938.1 19q13.43 2008-10-30 2006-12-08 2006-12-08 ENSG00000171487 ENSG00000171487 126206 Nucleotide-binding domain and leucine rich repeat containing 21269 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 609658 NACHT, leucine rich repeat and PYD containing 5 NALP5 NA 12563287, 11925379 Standard NM_153447 NM_153447 NA Approved PYPAF8, MATER, PAN11, CLR19.8 uc002qmj.3 P59047 OTTHUMG00000149887 ENST00000390649.3:c.3541G>A chr19.hg19:g.56572832G>A ENSP00000375063:p.Val1181Ile NA A8MTY4|Q86W29 hg19 CCDS12938.1 0.02 18.231613 CGAxTCG COVERED 744 0.34065934065934067 220 0.44715447154471544 83 0.2292817679558011 247 0.4318181818181818 194 0.2559366754617414 A 0.009 -1.828455 0.00584 0.426724 0.258741 ENSG00000171487 ENST00000390649 T 0.72394 -0.65 3.33 -6.66 0.01789 . . . . . T 0.00012 0.0000 L 0.28274 0.84 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.04153 -1.0973 8 0.09843 T 0.71 . 8.169 0.31243 0.1062:0.2707:0.5272:0.0958 rs10409555;rs52789679;rs56800517;rs10409555 1181 P59047 NALP5_HUMAN I 1181 ENSP00000375063:V1181I ENSP00000375063:V1181I V + 1 0 NLRP5 61264644 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.531000 0.02219 -4.845000 0.00029 -3.614000 0.00027 GTC NOVEL NLRP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313735.1 2 13.845619 KEEP 0 0 0 46 1676 GG 1 1 0 + 14 60 504 0 0 29.540629 472 60 17800 637 ENST00000390649.3 0.028807 1 NLRP5 126206 __UNKNOWN__ __UNKNOWN__ 19 56572875 56572875 __UNKNOWN__ Missense_Mutation SNP G G A rs36118060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56572875G>A ENST00000390649.3 + 15 3584 c.3584G>A c.(3583-3585)cGg>cAg p.R1195Q NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1195 NA R -> Q (in dbSNP:rs36118060). cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487) apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234) ATP binding (GO:0005524) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAAGATGACCGGTACTGGTGG 0.488 NA G||| 857 0.171126 0.0749 0.1153 5008 , , NA 19788 0.3373 NA 0.1342 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 G GLN/ARG 289,3569 10,269,1650 149 141 143 3584 0 0 19 dbSNP_126 143 1208,7068 92,1024,3022 yes missense NLRP5 NM_153447.4 43 102,1293,4672 AA,AG,GG 14.5964,7.4909,12.3372 probably-damaging 1195/1201 56572875 1497,10637 1929 4138 6067 SO:0001583 missense AY154460 CCDS12938.1 19q13.43 2008-10-30 2006-12-08 2006-12-08 ENSG00000171487 ENSG00000171487 126206 Nucleotide-binding domain and leucine rich repeat containing 21269 protein-coding gene gene with protein product nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5 609658 NACHT, leucine rich repeat and PYD containing 5 NALP5 NA 12563287, 11925379 Standard NM_153447 NM_153447 NA Approved PYPAF8, MATER, PAN11, CLR19.8 uc002qmj.3 P59047 OTTHUMG00000149887 ENST00000390649.3:c.3584G>A chr19.hg19:g.56572875G>A ENSP00000375063:p.Arg1195Gln NA A8MTY4|Q86W29 hg19 CCDS12938.1 0.02 28.3654 ACCxGTA COVERED 372 0.17032967032967034 25 0.0508130081300813 40 0.11049723756906077 205 0.3583916083916084 102 0.1345646437994723 G 14.57 2.575088 0.45902 0.074909 0.145964 ENSG00000171487 ENST00000390649 T 0.72394 -0.65 3.43 -0.0225 0.13947 . . . . . T 0.00012 0.0000 L 0.57536 1.79 0.80722 P 0.0 D 0.64830 0.994 P 0.47102 0.537 T 0.11275 -1.0594 8 0.27785 T 0.31 . 3.7389 0.08521 0.2376:0.2052:0.5572:0.0 rs36118060 1195 P59047 NALP5_HUMAN Q 1195 ENSP00000375063:R1195Q ENSP00000375063:R1195Q R + 2 0 NLRP5 61264687 0.021000 0.18746 0.036000 0.18154 0.927000 0.56198 0.528000 0.23002 0.092000 0.17331 0.655000 0.94253 CGG NOVEL NLRP5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000313735.1 2 14.746789 KEEP 0 0 0 49 1675 GG 1 1 0 + 25 60 962 0 0 62.36831 611 60 21233 857 ENST00000390649.3 0.039308 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 19 56728449 56728449 __UNKNOWN__ IGR SNP T T C rs12459850 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56728449T>C NA NA ZSCAN5C (7628 upstream) : ZSCAN5A (4231 downstream) NA NA NA AGCCACTAAGTCCCATCCCAG 0.507 NA C||| 2041 0.407548 0.5393 0.402 5008 , , NA 13921 0.4871 NA 0.3817 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr19.hg19:g.56728449T>C NA hg19 0.02 -0.350916 AAGxCCC COVERED NOVEL 0 0 4.21187 KEEP 0 0 0 14 412 TT 0.995343 0.87362 0 3 60 111 0 0 7.904849 37 60 1310 72 0.075 0.877708 ZSCAN5A 79149 __UNKNOWN__ __UNKNOWN__ 19 56733425 56733425 __UNKNOWN__ Missense_Mutation SNP C C A rs34187696 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:56733425C>A ENST00000592355.1 - 5 1068 c.1007G>T c.(1006-1008)gGc>gTc p.G336V ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.G191V|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.G220V|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.G337V|ZSCAN5A_ENST00000587340.1_Missense_Mutation_p.G337V Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 337 NA regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) p.G337V(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GCTCGCAGGGCCTGGGGAATG 0.562 NA C||| 802 0.160144 0.0454 0.1542 5008 , , NA 17258 0.1806 NA 0.2813 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C VAL/GLY 356,4050 182.2+/-210.1 16,324,1863 73 74 73 1010 0.6 0 19 dbSNP_126 73 2492,6108 408.5+/-349.5 363,1766,2171 yes missense ZSCAN5A NM_024303.1 109 379,2090,4034 AA,AC,CC 28.9767,8.0799,21.8976 probably-damaging 337/497 56733425 2848,10158 2203 4300 6503 SO:0001583 missense AK098700 CCDS12941.1 19q13.43 2013-01-08 2008-06-10 2008-06-10 ENSG00000131848 ENSG00000131848 79149 -, Zinc fingers, C2H2-type 23710 protein-coding gene gene with protein product zinc finger protein 495, zinc finger and SCAN domain containing 5 ZNF495, ZSCAN5 NA Standard NM_024303 NM_024303 NA Approved MGC4161 uc002qmq.3 Q9BUG6 ENST00000592355.1:c.1007G>T chr19.hg19:g.56733425C>A ENSP00000467238:p.Gly336Val NA B4DX98|Q49A73|Q53F04|Q8N7B3 hg19 0.02 8.202616 GGGxCTG COVERED 426 0.19505494505494506 32 0.06504065040650407 62 0.1712707182320442 117 0.20454545454545456 215 0.2836411609498681 C 13.15 2.151177 0.38021 0.080799 0.289767 ENSG00000131848 ENST00000391713;ENST00000254165 T;T 0.08193 3.16;3.12 2.05 0.561 0.17285 . . . . . T 0.00012 0.0000 M 0.76574 2.34 0.58432 P 1.0000000000287557E-6 D;D 0.63880 0.993;0.993 P;P 0.60949 0.881;0.834 T 0.36138 -0.9760 8 0.26408 T 0.33 . 5.3761 0.16166 0.0:0.7144:0.0:0.2856 rs34187696 220;337 B4DX98;Q9BUG6 .;ZSA5A_HUMAN V 337;220 ENSP00000375593:G337V;ENSP00000254165:G220V ENSP00000254165:G220V G - 2 0 ZSCAN5A 61425237 0.007000 0.16637 0.000000 0.03702 0.007000 0.05969 -0.082000 0.11304 0.181000 0.19994 0.561000 0.74099 GGC NOVEL ZSCAN5A-001 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000458109.1 0 7.825724 KEEP 0 0 0 26 937 CC 0.999957 0.999957 0 - 11 60 374 0 0 23.90609 200 60 7186 277 ENST00000592355.1 0.052133 1 ZNF470 388566 __UNKNOWN__ __UNKNOWN__ 19 57088850 57088850 __UNKNOWN__ Silent SNP T T C rs3752180 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57088850T>C ENST00000330619.8 + 6 1739 c.1053T>C c.(1051-1053)gaT>gaC p.D351D ZNF470_ENST00000391709.3_Silent_p.D351D|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 351 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CTTTTAGTGATTGCTCATCCC 0.438 NA T||| 1455 0.290535 0.1362 0.3401 5008 , , NA 21092 0.379 NA 0.3867 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 T 801,3605 320.4+/-296.6 64,673,1466 86 82 84 1053 -2.2 0.7 19 dbSNP_107 84 3198,5402 482.3+/-370.9 598,2002,1700 no coding-synonymous ZNF470 NM_001001668.3 662,2675,3166 CC,CT,TT 37.186,18.1798,30.7473 351/718 57088850 3999,9007 2203 4300 6503 SO:0001819 synonymous_variant AK129686 CCDS33122.1 19q13.43 2013-01-08 ENSG00000197016 388566 Zinc fingers, C2H2-type, - 22220 protein-coding gene gene with protein product NA 15302581 Standard NM_001001668 NM_001001668 NA Approved CZF-1, FLJ26175 uc002qnl.4 Q6ECI4 ENST00000330619.8:c.1053T>C chr19.hg19:g.57088850T>C NA A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9 hg19 CCDS33122.1 0.02 16.655169 TGAxTGC COVERED NOVEL ZNF470-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000459707.2 2 12.172899 KEEP 0 1 36 53 1710 TT 1 1 0 + 16 60 603 0 0 39.518718 344 60 12559 476 ENST00000330619.8 0.044444 1 ZIM2 23619 __UNKNOWN__ __UNKNOWN__ 19 57293831 57293831 __UNKNOWN__ Intron SNP G G A rs12610778 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57293831G>A ENST00000391708.3 - 10 1020 AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Intron|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TTAAGCCTCAGGGTCCCACCT 0.378 NA G||| 1101 0.219848 0.1505 0.1844 5008 , , NA 17250 0.3968 NA 0.1213 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF166122 CCDS33123.1 19q13.4 2012-10-31 ENSG00000269699 23619 Zinc fingers, C2H2-type 12875 protein-coding gene gene with protein product NA Standard NM_015363 NA Approved ZNF656 Q9NZV7 ENST00000391708.3:c.478-342C>T chr19.hg19:g.57293831G>A NA Q2M3K1 hg19 CCDS33123.1 0.02 8.301357 TCAxGGT COVERED NOVEL ZIM2-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416094.2 1 17.457201 KEEP 0 0 0 58 2080 GG 1 1 0 - 14 60 507 1 0 35.047793 196 60 7244 334 ENST00000391708.3 0.066667 1 PEG3 5178 __UNKNOWN__ __UNKNOWN__ 19 57325083 57325083 __UNKNOWN__ Missense_Mutation SNP C C T rs34051133 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57325083C>T ENST00000326441.9 - 10 5090 c.4727G>A c.(4726-4728)cGc>cAc p.R1576H ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1576H|PEG3_ENST00000598410.1_Missense_Mutation_p.R1452H|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1450H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1576 NA R -> H (in dbSNP:rs34051133).|R -> L. {ECO:0000269|PubMed:11677152}. apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) p.R1576H(2) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAGGGACAGGCGGTCATTGAA 0.527 NA C||| 908 0.18131 0.0257 0.1758 5008 , , NA 20226 0.3948 NA 0.1262 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 2 Substitution - Missense(2) stomach(2) C HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG, 204,4202 125.7+/-162.9 4,196,2003 105 92 96 4727,4349,4727,4355,,,4727, 0.5 0.9 19 dbSNP_126 96 1119,7481 231.2+/-265.3 77,965,3258 yes missense,missense,missense,missense,intron,intron,missense,intron PEG3,ZIM2 NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4 29,29,29,29,,,29, 81,1161,5261 TT,TC,CC 13.0116,4.63,10.1722 probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging, 1576/1589,1450/1463,1576/1589,1452/1465,,,1576/1589, 57325083 1323,11683 2203 4300 6503 SO:0001583 missense AB006625 CCDS12948.1, CCDS58684.1, CCDS58685.1 19q13.4 2013-01-09 ENSG00000198300 5178 Zinc fingers, C2H2-type, -, -, - 8826 protein-coding gene gene with protein product 601483 NA 9149948 Standard NM_006210 NA Approved ZKSCAN22, KIAA0287, ZNF904, ZSCAN24 uc010etr.2 Q9GZU2 ENST00000326441.9:c.4727G>A chr19.hg19:g.57325083C>T ENSP00000326581:p.Arg1576His NA A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2 hg19 CCDS12948.1 0.02 10.934254 AGGxGGT COVERED 368 0.1684981684981685 11 0.022357723577235773 61 0.1685082872928177 202 0.3531468531468531 94 0.12401055408970976 C 15.05 2.718073 0.48622 0.0463 0.130116 ENSG00000198300 ENST00000326441;ENST00000423103 T;T 0.53206 0.63;0.63 3.87 0.537 0.17144 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.518734 0.16408 N 0.215754 T 0.00012 0.0000 L 0.39633 1.23 . . . B;B;B 0.21753 0.06;0.033;0.06 B;B;B 0.17722 0.019;0.013;0.013 T 0.36311 -0.9753 9 0.32370 T 0.25 -9.655 3.157 0.06508 0.2103:0.5647:0.0:0.225 rs34051133 1452;1576;1511 A7E2B8;Q9GZU2;Q96Q96 .;PEG3_HUMAN;. H 1576 ENSP00000326581:R1576H;ENSP00000403051:R1576H ENSP00000326581:R1576H R - 2 0 ZIM2 62016895 0.000000 0.05858 0.879000 0.34478 0.646000 0.38490 -0.283000 0.08433 0.216000 0.20781 -0.293000 0.09583 CGC NOVEL PEG3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000416099.2 0 14.747088 KEEP 0 0 0 49 1678 CC 1 1 0 - 9 60 327 0 0 19.976277 254 60 8642 362 ENST00000326441.9 0.034221 1 ZIM3 114026 __UNKNOWN__ __UNKNOWN__ 19 57646249 57646249 __UNKNOWN__ 3'UTR SNP C C T rs59231549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57646249C>T ENST00000269834.1 - 0 1841 NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCCAGGCAACCATATCTTCC 0.433 NA C||| 792 0.158147 0.1324 0.1239 5008 , , NA 16104 0.4028 NA 0.0378 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 C 519,3887 233.3+/-246.5 30,459,1714 60 59 59 -3.7 0 19 dbSNP_129 59 215,8385 89.4+/-151.6 5,205,4090 no utr-3 ZIM3 NM_052882.1 35,664,5804 TT,TC,CC 2.5,11.7794,5.6435 57646249 734,12272 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF365931 CCDS33125.1 19q13.4 2013-01-08 ENSG00000141946 114026 Zinc fingers, C2H2-type, - 16366 protein-coding gene gene with protein product NA Standard NM_052882 NA Approved ZNF657 uc002qnz.1 Q96PE6 ENST00000269834.1:c.*37G>A chr19.hg19:g.57646249C>T NA Q14CA6 hg19 CCDS33125.1 0.02 6.202392 CAAxCAT COVERED NOVEL ZIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465078.1 2 4.815853 KEEP 0 0 0 16 576 CC 0.997832 0.997832 0 - 6 60 223 0 0 13.772435 172 60 6420 236 ENST00000269834.1 0.033708 1 ZIM3 114026 __UNKNOWN__ __UNKNOWN__ 19 57647015 57647015 __UNKNOWN__ Silent SNP A A G rs7251328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57647015A>G ENST00000269834.1 - 5 1075 c.690T>C c.(688-690)aaT>aaC p.N230N NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 230 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCTTGTAGGCATTTCCACAGT 0.413 NA G||| 3252 0.649361 0.652 0.6225 5008 , , NA 18142 0.7649 NA 0.5507 False NA ,,, NA NA NA 2504 0.6472 NA NA NA NA 0 G 2867,1539 486.4+/-360.6 939,989,275 142 139 140 690 -0.3 0.3 19 dbSNP_116 140 4776,3824 539.0+/-383.5 1363,2050,887 no coding-synonymous ZIM3 NM_052882.1 2302,3039,1162 GG,GA,AA 44.4651,34.9296,41.2348 230/473 57647015 7643,5363 2203 4300 6503 SO:0001819 synonymous_variant AF365931 CCDS33125.1 19q13.4 2013-01-08 ENSG00000141946 114026 Zinc fingers, C2H2-type, - 16366 protein-coding gene gene with protein product NA Standard NM_052882 NA Approved ZNF657 uc002qnz.1 Q96PE6 ENST00000269834.1:c.690T>C chr19.hg19:g.57647015A>G NA Q14CA6 hg19 CCDS33125.1 0.02 20.129631 GGCxTTT COVERED NOVEL ZIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465078.1 3 9.025541 KEEP 0 0 0 30 919 AA 0.999997 0.999997 0 - 19 60 654 0 0 38.759274 522 60 19235 662 ENST00000269834.1 0.03512 1 ZIM3 114026 __UNKNOWN__ __UNKNOWN__ 19 57647236 57647236 __UNKNOWN__ Missense_Mutation SNP T T C rs7252632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57647236T>C ENST00000269834.1 - 5 854 c.469A>G c.(469-471)Aat>Gat p.N157D NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 157 NA N -> D (in dbSNP:rs7252632). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GATGGATTATTGCCAACTAAT 0.368 NA C||| 3722 0.743211 0.7466 0.7046 5008 , , NA 20385 0.9276 NA 0.6203 False NA ,,, NA NA NA 2504 0.7025 NA NA NA NA 0 C ASP/ASN 3317,1089 394.9+/-329.4 1250,817,136 156 151 152 469 -4.4 0 19 dbSNP_116 152 5399,3201 484.0+/-371.3 1711,1977,612 yes missense ZIM3 NM_052882.1 23 2961,2794,748 CC,CT,TT 37.2209,24.7163,32.9848 benign 157/473 57647236 8716,4290 2203 4300 6503 SO:0001583 missense AF365931 CCDS33125.1 19q13.4 2013-01-08 ENSG00000141946 114026 Zinc fingers, C2H2-type, - 16366 protein-coding gene gene with protein product NA Standard NM_052882 NA Approved ZNF657 uc002qnz.1 Q96PE6 ENST00000269834.1:c.469A>G chr19.hg19:g.57647236T>C ENSP00000269834:p.Asn157Asp NA Q14CA6 hg19 CCDS33125.1 0.02 13.603501 TATxGCC COVERED 1613 0.7385531135531136 349 0.709349593495935 262 0.7237569060773481 536 0.9370629370629371 466 0.6147757255936676 C 0.006 -2.097396 0.00360 0.752837 0.627791 ENSG00000141946 ENST00000269834 T 0.04603 3.59 2.18 -4.36 0.03645 . . . . . T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.48570 -0.9024 8 0.59425 D 0.04 . 1.8684 0.03203 0.1572:0.2003:0.1724:0.47 rs7252632;rs17207656;rs58920096;rs7252632 157 Q96PE6 ZIM3_HUMAN D 157 ENSP00000269834:N157D ENSP00000269834:N157D N - 1 0 ZIM3 62339048 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -2.390000 0.01057 -5.246000 0.00018 -2.025000 0.00428 AAT NOVEL ZIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465078.1 0 7.220383 KEEP 0 0 0 24 757 TT 0.999909 0.999909 0 - 16 60 544 0 0 33.286192 362 60 13205 441 ENST00000269834.1 0.042328 1 ZIM3 114026 __UNKNOWN__ __UNKNOWN__ 19 57649940 57649940 __UNKNOWN__ Silent SNP A A T rs17305563 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57649940A>T ENST00000269834.1 - 3 427 c.42T>A c.(40-42)acT>acA p.T14T NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 14 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAAGTTCACAGTGACATCCT 0.483 NA A||| 646 0.128994 0.0265 0.1052 5008 , , NA 19196 0.4137 NA 0.0318 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 A 157,4249 107.3+/-145.7 0,157,2046 104 93 97 42 0.6 0 19 dbSNP_123 97 163,8437 76.3+/-139.0 3,157,4140 no coding-synonymous ZIM3 NM_052882.1 3,314,6186 TT,TA,AA 1.8953,3.5633,2.4604 14/473 57649940 320,12686 2203 4300 6503 SO:0001819 synonymous_variant AF365931 CCDS33125.1 19q13.4 2013-01-08 ENSG00000141946 114026 Zinc fingers, C2H2-type, - 16366 protein-coding gene gene with protein product NA Standard NM_052882 NA Approved ZNF657 uc002qnz.1 Q96PE6 ENST00000269834.1:c.42T>A chr19.hg19:g.57649940A>T NA Q14CA6 hg19 CCDS33125.1 0.02 6.340518 CACxGTG COVERED NOVEL ZIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000465078.1 1 8.425676 KEEP 0 0 0 28 885 AA 0.999997 0.999997 0 - 6 60 216 0 0 13.529667 144 60 5365 219 ENST00000269834.1 0.04 1 ZNF304 57343 __UNKNOWN__ __UNKNOWN__ 19 57863149 57863149 __UNKNOWN__ Intron SNP T T G rs34172522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57863149T>G ENST00000282286.5 + 1 206 ZNF304_ENST00000391705.3_Intron|ZNF304_ENST00000443917.2_Intron|ZNF304_ENST00000598744.1_Intron|CTC-444N24.13_ENST00000597973.1_RNA Q9HCX3 ZN304_HUMAN zinc finger protein 304 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TTCAGGGTGCTCACTCCGTCG 0.607 NA T||| 883 0.176318 0.0673 0.2334 5008 , , NA 19007 0.2431 NA 0.171 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 T 129,1255 3,123,566 27 32 31 1 0 19 dbSNP_126 31 638,2544 59,520,1012 no intron ZNF304 NM_020657.2 62,643,1578 GG,GT,TT 20.0503,9.3208,16.7981 57863149 767,3799 692 1591 2283 SO:0001627 intron_variant AJ276316 CCDS12950.1, CCDS74462.1 19q13.4 2013-01-08 ENSG00000131845 57343 Zinc fingers, C2H2-type, - 13505 protein-coding gene gene with protein product 613840 NA Standard XM_005259090 NA Approved uc010ygw.2 Q9HCX3 ENST00000282286.5:c.33+84T>G chr19.hg19:g.57863149T>G NA hg19 CCDS12950.1 0.02 4.768133 TGCxCAC COVERED NOVEL ZNF304-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000465785.1 0 13.237754 KEEP 0 0 0 44 1377 TT 1 0.999997 0 + 7 60 236 0 0 15.80055 108 60 3749 194 ENST00000282286.5 0.06087 0.999997 AC003002.4 0 __UNKNOWN__ __UNKNOWN__ 19 57901422 57901422 __UNKNOWN__ Intron SNP G G T rs75599624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57901422G>T ENST00000597658.1 + 4 301 ZNF548_ENST00000366197.5_5'UTR|AC003002.6_ENST00000596400.1_5'UTR|ZNF548_ENST00000598895.1_5'UTR|AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000336128.7_5'UTR|ZNF548_ENST00000597400.1_5'UTR NA NA NA TGCCTTTGTCGCTCCCGCCCC 0.672 NA G||| 752 0.15016 0.0136 0.2075 5008 , , NA 14404 0.247 NA 0.172 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 G , 154,3862 4,146,1858 34 41 39 , -3.8 0 19 dbSNP_131 39 1619,6745 163,1293,2726 no utr-5,utr-5 ZNF548 NM_001172773.1,NM_152909.3 , 167,1439,4584 TT,TG,GG 19.3568,3.8347,14.3215 , , 57901422 1773,10607 2008 4182 6190 SO:0001627 intron_variant NA NA NA NA ENST00000597658.1:c.152-8376G>T chr19.hg19:g.57901422G>T NA hg19 0.02 7.870881 GTCxCTC COVERED NOVEL AC003002.4-001 PUTATIVE mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000465945.1 2 39.356841 KEEP 0 0 0 131 4309 GG 1 1 0 + 9 60 290 0 0 17.118732 206 60 6713 474 ENST00000597658.1 0.04186 1 AC004076.7 0 __UNKNOWN__ __UNKNOWN__ 19 57931303 57931303 __UNKNOWN__ Intron SNP C C A rs2014827 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:57931303C>A ENST00000597410.1 + 2 41 ZNF17_ENST00000601808.1_Missense_Mutation_p.T148K|ZNF17_ENST00000307658.7_Missense_Mutation_p.T150K|AC003002.6_ENST00000596400.1_Missense_Mutation_p.T160K NA NA NA AGGAACCTCACATGCATGCAG 0.502 NA C||| 784 0.15655 0.0106 0.2061 5008 , , NA 22289 0.249 NA 0.175 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 C LYS/THR 182,4222 104.3+/-142.8 4,174,2024 111 113 112 443 -2.3 0 19 dbSNP_92 112 1706,6894 300.9+/-305.2 176,1354,2770 yes missense ZNF17 NM_006959.2 78 180,1528,4794 AA,AC,CC 19.8372,4.1326,14.5186 probably-damaging 148/663 57931303 1888,11116 2202 4300 6502 SO:0001627 intron_variant NA NA NA NA ENST00000597410.1:c.42-8524C>A chr19.hg19:g.57931303C>A NA hg19 0.02 10.328493 TCAxATG COVERED 369 0.16895604395604397 7 0.014227642276422764 70 0.19337016574585636 148 0.25874125874125875 144 0.18997361477572558 C 9.117 1.008038 0.19199 0.041326 0.198372 ENSG00000186272 ENST00000307658 . . . 1.46 -2.3 0.06785 . . . . . T 0.00012 0.0000 N 0.13272 0.32 0.80722 P 0.0 P;B 0.39480 0.675;0.003 B;B 0.34824 0.19;0.003 T 0.16012 -1.0417 7 0.02654 T 1 . 0.2173 0.00164 0.2081:0.2719:0.2063:0.3137 rs2014827;rs52806689;rs58166306;rs2014827 150;148 P17021-2;P17021 .;ZNF17_HUMAN K 148 . ENSP00000302455:T148K T + 2 0 ZNF17 62623115 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -4.039000 0.00308 -0.627000 0.05589 -0.128000 0.14901 ACA NOVEL AC004076.7-001 PUTATIVE mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000466421.1 1 12.173238 KEEP 0 1 21 48 1700 CC 1 1 0 + 9 60 313 0 0 18.404497 266 60 10042 373 ENST00000597410.1 0.032727 1 ZNF416 55659 __UNKNOWN__ __UNKNOWN__ 19 58089521 58089521 __UNKNOWN__ Intron SNP G G C rs886265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58089521G>C ENST00000196489.3 - 2 256 NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AGCTCCATGGGCTGATGCCTC 0.517 NA G||| 1959 0.391174 0.3185 0.366 5008 , , NA 19421 0.501 NA 0.3946 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 G 479,905 74,331,287 94 93 93 -1.5 0 19 dbSNP_86 93 1307,1875 274,759,558 no intron ZNF416 NM_017879.1 348,1090,845 CC,CG,GG 41.0748,34.6098,39.1152 58089521 1786,2780 692 1591 2283 SO:0001627 intron_variant BC000130 CCDS12954.1 19q13.4 2013-01-08 ENSG00000083817 55659 Zinc fingers, C2H2-type, - 20645 protein-coding gene gene with protein product NA Standard NM_017879 NM_017879 NA Approved FLJ20557 uc002qpf.3 Q9BWM5 ENST00000196489.3:c.34-55C>G chr19.hg19:g.58089521G>C NA Q9NWW8 hg19 CCDS12954.1 0.02 -0.438662 TGGxCTG COVERED NOVEL ZNF416-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466787.1 0 9.292813 KEEP 0 0 0 31 1058 GG 0.999997 0.959856 0 - 3 60 110 0 0 7.504162 47 60 1759 98 ENST00000196489.3 0.06 0.959859 ZIK1 284307 __UNKNOWN__ __UNKNOWN__ 19 58095678 58095678 __UNKNOWN__ 5'UTR SNP C C G rs11880137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58095678C>G ENST00000597850.1 + 0 169 ZIK1_ENST00000536878.2_5'UTR|ZIK1_ENST00000598726.1_Intron|ZIK1_ENST00000307468.4_5'UTR|ZIK1_ENST00000599456.1_5'UTR NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTAGGTCCCTCCGCCCGTAGC 0.716 NA G||| 739 0.147564 0.1853 0.111 5008 , , NA 11768 0.2054 NA 0.0865 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 G 620,3630 36,548,1541 5 7 6 -3.1 0 19 dbSNP_120 6 604,7720 13,578,3571 no utr-5 ZIK1 NM_001010879.2 49,1126,5112 GG,GC,CC 7.2561,14.5882,9.7344 58095678 1224,11350 2125 4162 6287 SO:0001623 5_prime_UTR_variant AK092538 CCDS33135.1 19q13.43 2013-01-08 2012-12-07 ENSG00000171649 ENSG00000171649 284307 Zinc fingers, C2H2-type, - 33104 protein-coding gene gene with protein product zinc finger protein interacting with K protein 1 homolog (mouse) NA Standard NM_001010879 XM_005258769 NA Approved ZNF762 uc002qpg.3 Q3SY52 ENST00000597850.1:c.-47C>G chr19.hg19:g.58095678C>G NA O43339|Q3SY51|Q3SY53 hg19 CCDS33135.1 0.02 4.631129 CCTxCGC COVERED NOVEL ZIK1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000466791.1 2 11.436822 KEEP 0 0 0 38 1321 CC 1 0.999998 0 + 5 60 189 0 0 12.28088 114 60 4160 182 ENST00000597850.1 0.042017 0.999998 ZNF530 348327 __UNKNOWN__ __UNKNOWN__ 19 58115803 58115803 __UNKNOWN__ Intron SNP C C A rs11881999 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58115803C>A ENST00000332854.6 + 2 380 ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCCAGTTTCCTTTGTGGGTC 0.512 NA C||| 528 0.105431 0.1271 0.098 5008 , , NA 20774 0.1617 NA 0.0765 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 C 561,3845 251.5+/-258.2 39,483,1681 191 180 184 -2 0 19 dbSNP_120 184 638,7962 164.3+/-216.7 16,606,3678 no intron ZNF530 NM_020880.3 55,1089,5359 AA,AC,CC 7.4186,12.7326,9.2188 58115803 1199,11807 2203 4300 6503 SO:0001627 intron_variant AK096831 CCDS12955.1 19q13.43 2013-01-08 ENSG00000183647 348327 Zinc fingers, C2H2-type, - 29297 protein-coding gene gene with protein product NA 10819331 Standard NM_020880 NM_020880 NA Approved KIAA1508 uc002qpk.2 Q6P9A1 ENST00000332854.6:c.160+29C>A chr19.hg19:g.58115803C>A NA O43340|Q9P220 hg19 CCDS12955.1 0.02 23.154931 TTCxTTT COVERED NOVEL ZNF530-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466797.1 6 23.778048 KEEP 0 0 0 79 2863 CC 1 1 0 + 26 60 972 0 0 65.150901 478 60 18225 718 ENST00000332854.6 0.051587 1 ZNF530 348327 __UNKNOWN__ __UNKNOWN__ 19 58117083 58117083 __UNKNOWN__ Missense_Mutation SNP A A G rs9677004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58117083A>G ENST00000332854.6 + 3 410 c.190A>G c.(190-192)Acg>Gcg p.T64A ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 64 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA T -> A (in dbSNP:rs9677004). {ECO:0000269|PubMed:10819331}. regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGATGAGGGGACGCCTTCTGC 0.463 NA G||| 1490 0.297524 0.4932 0.2133 5008 , , NA 18988 0.3244 NA 0.173 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G ALA/THR 1945,2461 602.3+/-389.9 437,1071,695 65 67 67 190 -3.4 0 19 dbSNP_119 67 1428,7172 738.6+/-407.1 117,1194,2989 yes missense ZNF530 NM_020880.3 58 554,2265,3684 GG,GA,AA 16.6047,44.1443,25.9342 benign 64/600 58117083 3373,9633 2203 4300 6503 SO:0001583 missense AK096831 CCDS12955.1 19q13.43 2013-01-08 ENSG00000183647 348327 Zinc fingers, C2H2-type, - 29297 protein-coding gene gene with protein product NA 10819331 Standard NM_020880 NM_020880 NA Approved KIAA1508 uc002qpk.2 Q6P9A1 ENST00000332854.6:c.190A>G chr19.hg19:g.58117083A>G ENSP00000332861:p.Thr64Ala NA O43340|Q9P220 hg19 CCDS12955.1 0.02 1.994722 GGGxCGC COVERED 631 0.2889194139194139 246 0.5 75 0.20718232044198895 182 0.3181818181818182 128 0.16886543535620052 G 0.006 -2.095964 0.00364 0.441443 0.166047 ENSG00000183647 ENST00000332854 T 0.05025 3.51 1.83 -3.39 0.04868 Krueppel-associated box (3); . . . . T 0.00012 0.0000 N 0.13098 0.295 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41645 -0.9497 8 0.05351 T 0.99 . 5.137 0.14939 0.6324:0.0:0.2014:0.1662 rs9677004;rs52811543;rs57193532;rs9677004 64 Q6P9A1 ZN530_HUMAN A 64 ENSP00000332861:T64A ENSP00000332861:T64A T + 1 0 ZNF530 62808895 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.373000 0.07494 -1.446000 0.01945 -0.971000 0.02607 ACG NOVEL ZNF530-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466797.1 1 4.513189 KEEP 0 0 0 15 460 AA 0.99649 0.995603 0 + 5 60 185 0 0 12.793217 74 60 2612 110 ENST00000332854.6 0.063291 0.99911 ZNF134 7693 __UNKNOWN__ __UNKNOWN__ 19 58131623 58131623 __UNKNOWN__ Missense_Mutation SNP G G A rs10413455 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58131623G>A ENST00000396161.5 + 3 446 c.136G>A c.(136-138)Gca>Aca p.A46T ZNF134_ENST00000597975.1_3'UTR NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 46 NA A -> T (in dbSNP:rs10413455). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGGTTTGCCCGCACAGACGGC 0.463 NA G||| 432 0.086262 0.1112 0.0749 5008 , , NA 22146 0.1597 NA 0.0348 False NA ,,, NA NA NA 2504 0.0378 NA NA NA NA 0 G THR/ALA 372,3704 14,344,1680 111 108 109 136 -2.6 0 19 dbSNP_119 109 298,8148 6,286,3931 yes missense ZNF134 NM_003435.3 58 20,630,5611 AA,AG,GG 3.5283,9.1266,5.3506 benign 46/428 58131623 670,11852 2038 4223 6261 SO:0001583 missense U09412 CCDS42638.1 19q13.4 2013-01-08 2006-06-13 ENSG00000213762 7693 Zinc fingers, C2H2-type 12918 protein-coding gene gene with protein product 604076 zinc finger protein 134 (clone pHZ-15) NA 7557990 Standard NM_003435 NM_003435 NA Approved pHZ-15 uc002qpn.2 P52741 ENST00000396161.5:c.136G>A chr19.hg19:g.58131623G>A ENSP00000379464:p.Ala46Thr NA Q9Y4B2 hg19 CCDS42638.1 0.02 6.580543 CCCxCAC COVERED 197 0.0902014652014652 54 0.10975609756097561 28 0.07734806629834254 85 0.1486013986013986 30 0.0395778364116095 G 0.104 -1.147512 0.01714 0.091266 0.035283 ENSG00000213762 ENST00000418193;ENST00000396161 T 0.06849 3.25 3.64 -2.6 0.06190 . . . . . T 0.00012 0.0000 N 0.01576 -0.805 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.44483 -0.9325 8 0.66056 D 0.02 . 4.8494 0.13530 0.4404:0.2866:0.273:0.0 rs10413455;rs52804630;rs60648349;rs10413455 46 P52741 ZN134_HUMAN T 113;46 ENSP00000379464:A46T ENSP00000379464:A46T A + 1 0 ZNF134 62823435 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -0.325000 0.07976 -0.674000 0.05253 -0.238000 0.12139 GCA NOVEL ZNF134-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466808.1 1 10.569137 KEEP 0 1 31 46 1622 GG 1 1 0 + 15 60 546 0 0 38.910484 177 60 6210 287 ENST00000396161.5 0.078125 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58144406 58144406 __UNKNOWN__ Intron SNP C C G rs10419856 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58144406C>G ENST00000420680.1 + 2 102 Q13398 ZN211_HUMAN zinc finger protein 211 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGTCTGCACACAAGGCGCCCT 0.567 NA C||| 708 0.141374 0.1399 0.0965 5008 , , NA 16991 0.2589 NA 0.1213 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000420680.1:c.103-1591C>G chr19.hg19:g.58144406C>G NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 0.02 2.286231 ACAxAAG COVERED NOVEL ZNF211-201 KNOWN basic protein_coding NA protein_coding 0 10.834739 KEEP 0 0 0 36 1264 CC 0.999999 0.999217 0 + 6 60 226 0 0 16.212414 74 60 2691 133 ENST00000420680.1 0.075 0.999218 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58144415 58144415 __UNKNOWN__ Intron SNP C C T rs10420028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58144415C>T ENST00000420680.1 + 2 102 Q13398 ZN211_HUMAN zinc finger protein 211 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACAAGGCGCCCTCCGTCGCAG 0.572 NA C||| 368 0.0734824 0.09 0.0245 5008 , , NA 17038 0.1627 NA 0.0268 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000420680.1:c.103-1582C>T chr19.hg19:g.58144415C>T NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 0.02 1.84613 GCCxTCC COVERED NOVEL ZNF211-201 KNOWN basic protein_coding NA protein_coding 0 12.939944 KEEP 0 0 0 43 1453 CC 1 0.99993 0 + 6 60 215 0 0 14.620834 90 60 3248 168 ENST00000420680.1 0.0625 0.99993 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58144561 58144561 __UNKNOWN__ 5'UTR SNP A A G rs10420097 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58144561A>G ENST00000347302.3 + 0 26 ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000254182.7_5'UTR NM_198855.2 NP_942152.1 Q13398 ZN211_HUMAN zinc finger protein 211 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCGTCTTCGCAGCGGTCATTT 0.612 NA A||| 333 0.0664936 0.0673 0.0173 5008 , , NA 15120 0.1627 NA 0.0268 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000347302.3:c.-154A>G chr19.hg19:g.58144561A>G NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS12957.1 0.02 9.919454 CGCxGCG COVERED NOVEL ZNF211-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000397502.1 0 31.889563 KEEP 0 0 0 106 3231 AA 1 1 0 + 12 60 391 0 0 23.256669 273 60 9716 504 ENST00000347302.3 0.042105 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58144715 58144715 __UNKNOWN__ Start_Codon_SNP SNP A A G rs9749449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58144715A>G ENST00000299871.5 + 1 132 c.1A>G c.(1-3)Atg>Gtg p.M1V ZNF211_ENST00000240731.4_Start_Codon_SNP_p.M1V|ZNF211_ENST00000544273.1_5'UTR|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000347302.3_Start_Codon_SNP_p.M1V NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 1 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGGGATAGCGATGCTCGGGTT 0.716 NA G||| 1074 0.214457 0.2337 0.1311 5008 , , NA 11638 0.3204 NA 0.161 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 G VAL/MET,VAL/MET 795,3479 74,647,1416 6 9 8 1,1 -0.4 0 19 dbSNP_119 8 1174,7234 74,1026,3104 no missense,missense ZNF211 NM_006385.3,NM_198855.2 21,21 148,1673,4520 GG,GA,AA 13.9629,18.6008,15.5259 benign,benign 1/578,1/565 58144715 1969,10713 2137 4204 6341 SO:0001582 initiator_codon_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.1A>G chr19.hg19:g.58144715A>G ENSP00000299871:p.Met1Val NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 9.120238 GCGxTGC COVERED 483 0.22115384615384615 135 0.27439024390243905 52 0.143646408839779 179 0.3129370629370629 117 0.15435356200527706 G 8.877 0.950688 0.18431 0.186008 0.139629 ENSG00000121417 ENST00000347302;ENST00000299871;ENST00000240731 T;T;T 0.05580 3.44;3.42;3.43 0.929 -0.423 0.12325 . . . . . T 0.00012 0.0000 . . . 0.58432 P 4.000000000004E-6 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.43750 -0.9372 7 0.06757 T 0.87 . 2.7262 0.05214 0.2557:0.3686:0.3758:0.0 rs9749449;rs9749449 1;1;1 F8WDV2;Q13398;B9ZVW1 .;ZN211_HUMAN;. V 1 ENSP00000339562:M1V;ENSP00000299871:M1V;ENSP00000240731:M1V ENSP00000240731:M1V M + 1 0 ZNF211 62836527 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.769000 0.04710 -0.659000 0.05359 -0.227000 0.12334 ATG NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 2 38.204483 KEEP 0 0 0 127 3850 AA 1 1 0 Missense_Mutation + 12 60 422 0 0 27.284572 230 60 8050 468 ENST00000299871.5 0.049587 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58144860 58144860 __UNKNOWN__ Intron SNP G G C rs28721436 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58144860G>C ENST00000299871.5 + 1 221 ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000544273.1_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000254182.7_Intron|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000541801.1_Intron|ZNF211_ENST00000347302.3_Intron NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCCAAGTGAGAGGCACCAGC 0.652 NA g||| 373 0.0744808 0.0908 0.0245 5008 , , NA 14140 0.1637 NA 0.0268 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 A , 70,1088 0,70,509 2 4 4 , -0.9 0 19 dbSNP_125 4 64,2792 0,64,1364 no intron,intron ZNF211 NM_006385.3,NM_198855.2 , 0,134,1873 CC,CG,GG 2.2409,6.0449,3.3383 , , 58144860 134,3880 579 1428 2007 SO:0001627 intron_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.90+56G>C chr19.hg19:g.58144860G>C NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 6.930712 TGAxAGG COVERED NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 2 36.417233 KEEP 0 0 0 121 4283 GG 1 1 0 + 10 60 385 0 0 26.356059 176 60 6627 397 ENST00000299871.5 0.053763 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58151286 58151286 __UNKNOWN__ Missense_Mutation SNP T T C rs4801508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58151286T>C ENST00000299871.5 + 4 394 c.263T>C c.(262-264)aTa>aCa p.I88T ZNF211_ENST00000240731.4_Intron|ZNF211_ENST00000544273.1_Intron|ZNF211_ENST00000420680.1_Intron|ZNF211_ENST00000254182.7_Missense_Mutation_p.I14T|ZNF211_ENST00000391703.3_Intron|ZNF211_ENST00000541801.1_Missense_Mutation_p.I14T|ZNF211_ENST00000347302.3_Intron NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 72 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAGGACTTATATCATCCTGG 0.453 NA C||| 1072 0.214058 0.2352 0.1297 5008 , , NA 20246 0.3214 NA 0.159 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.263T>C chr19.hg19:g.58151286T>C ENSP00000299871:p.Ile88Thr NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 4.31743 TTAxATC COVERED 485 0.22206959706959706 135 0.27439024390243905 52 0.143646408839779 180 0.3146853146853147 118 0.15567282321899736 C 0 -2.781755 0.00079 . . ENSG00000121417 ENST00000254182;ENST00000541801;ENST00000299871 T;T;T 0.07800 3.16;3.16;5.71 1.79 -3.58 0.04597 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.45512 -0.9256 7 0.16896 T 0.51 . 5.5975 0.17334 0.0:0.1731:0.403:0.424 rs4801508;rs60107711;rs4801508 88;14 F8WDV2;Q13398-2 .;. T 14;14;88 ENSP00000254182:I14T;ENSP00000442601:I14T;ENSP00000299871:I88T ENSP00000254182:I14T I + 2 0 ZNF211 62843098 0.000000 0.05858 0.000000 0.03702 0.138000 0.21146 -3.416000 0.00478 -3.136000 0.00234 -1.201000 0.01664 ATA NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 0 6.018175 KEEP 0 0 0 20 624 TT 0.999863 0.999863 0 + 6 60 228 0 0 15.065512 126 60 4636 176 ENST00000299871.5 0.045455 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58152361 58152361 __UNKNOWN__ Silent SNP T T A rs3746219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58152361T>A ENST00000299871.5 + 5 833 c.702T>A c.(700-702)acT>acA p.T234T ZNF211_ENST00000240731.4_Silent_p.T182T|ZNF211_ENST00000544273.1_Silent_p.T181T|ZNF211_ENST00000420680.1_Silent_p.T173T|ZNF211_ENST00000254182.7_Silent_p.T160T|ZNF211_ENST00000391703.3_Silent_p.T108T|ZNF211_ENST00000541801.1_Silent_p.T160T|ZNF211_ENST00000347302.3_Silent_p.T169T NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 169 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATGTGGACACTGCCTCGTTTA 0.463 NA A||| 1072 0.214058 0.2352 0.1297 5008 , , NA 22324 0.3214 NA 0.159 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 A , 980,3426 732.6+/-410.4 117,746,1340 94 84 88 546,507 -3 0 19 dbSNP_107 88 1346,7254 756.5+/-407.5 97,1152,3051 no coding-synonymous,coding-synonymous ZNF211 NM_006385.3,NM_198855.2 , 214,1898,4391 AA,AT,TT 15.6512,22.2424,17.8841 , 182/578,169/565 58152361 2326,10680 2203 4300 6503 SO:0001819 synonymous_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.702T>A chr19.hg19:g.58152361T>A NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 10.748397 CACxGCC COVERED 485 0.22206959706959706 135 0.27439024390243905 52 0.143646408839779 180 0.3146853146853147 118 0.15567282321899736 a 3.445 -0.113268 0.06881 0.222424 0.156512 ENSG00000121417 ENST00000407202 . . . 3.01 -3.05 0.05396 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.39333 -0.9619 3 . . . . 1.5958 0.02663 0.21:0.1384:0.3799:0.2718 rs3746219;rs58797181;rs3746219 . . . S 173 . . C + 1 0 ZNF211 62844173 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.114000 0.01329 -1.426000 0.01994 -3.087000 0.00065 TGC NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 0 21.966264 KEEP 0 0 0 73 2330 TT 1 1 0 + 8 60 294 0 0 17.400999 276 60 10135 411 ENST00000299871.5 0.028169 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58152795 58152795 __UNKNOWN__ Missense_Mutation SNP C C T rs11879465 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58152795C>T ENST00000299871.5 + 5 1267 c.1136C>T c.(1135-1137)gCg>gTg p.A379V ZNF211_ENST00000240731.4_Missense_Mutation_p.A327V|ZNF211_ENST00000544273.1_Missense_Mutation_p.A326V|ZNF211_ENST00000420680.1_Missense_Mutation_p.A318V|ZNF211_ENST00000254182.7_Missense_Mutation_p.A305V|ZNF211_ENST00000391703.3_Missense_Mutation_p.A253V|ZNF211_ENST00000541801.1_Missense_Mutation_p.A305V|ZNF211_ENST00000347302.3_Missense_Mutation_p.A314V NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 314 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGCCTTATGCGTGCCCTGAA 0.418 NA A||| 1072 0.214058 0.2352 0.1297 5008 , , NA 22359 0.3214 NA 0.159 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 A VAL/ALA,VAL/ALA 980,3426 117,746,1340 73 73 73 980,941 -2.3 0 19 dbSNP_120 73 1345,7255 97,1151,3052 yes missense,missense ZNF211 NM_006385.3,NM_198855.2 64,64 214,1897,4392 TT,TC,CC 15.6395,22.2424,17.8764 benign,benign 327/578,314/565 58152795 2325,10681 2203 4300 6503 SO:0001583 missense U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.1136C>T chr19.hg19:g.58152795C>T ENSP00000299871:p.Ala379Val NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 6.372566 ATGxGTG COVERED 485 0.22206959706959706 135 0.27439024390243905 52 0.143646408839779 180 0.3146853146853147 118 0.15567282321899736 A 10.08 1.251787 0.22880 0.222424 0.156395 ENSG00000121417 ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731 T;T;T;T;T;T;T;T 0.17213 2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29 3.21 -2.34 0.06704 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.00012 0.0000 N 0.11651 0.15 0.80722 P 0.0 B;B;B;B;B;B 0.22146 0.065;0.027;0.004;0.027;0.033;0.033 B;B;B;B;B;B 0.10450 0.003;0.002;0.001;0.003;0.005;0.005 T 0.45948 -0.9226 8 0.44086 T 0.13 . 4.3681 0.11233 0.3986:0.4122:0.0837:0.1056 rs11879465;rs52794337;rs59585398;rs11879465 318;326;379;305;314;327 Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1 .;.;.;.;ZN211_HUMAN;. V 318;314;305;253;305;379;326;327 ENSP00000399193:A318V;ENSP00000339562:A314V;ENSP00000254182:A305V;ENSP00000375584:A253V;ENSP00000442601:A305V;ENSP00000299871:A379V;ENSP00000441386:A326V;ENSP00000240731:A327V ENSP00000240731:A327V A + 2 0 ZNF211 62844607 0.000000 0.05858 0.000000 0.03702 0.533000 0.34776 -2.055000 0.01397 -1.230000 0.02561 -4.775000 0.00003 GCG NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 2 15.65112 KEEP 0 0 0 52 1830 CC 1 1 0 + 8 60 291 1 0 18.912367 162 60 5825 269 ENST00000299871.5 0.047059 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58152817 58152817 __UNKNOWN__ Silent SNP G G C rs11880050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58152817G>C ENST00000299871.5 + 5 1289 c.1158G>C c.(1156-1158)tcG>tcC p.S386S ZNF211_ENST00000240731.4_Silent_p.S334S|ZNF211_ENST00000544273.1_Silent_p.S333S|ZNF211_ENST00000420680.1_Silent_p.S325S|ZNF211_ENST00000254182.7_Silent_p.S312S|ZNF211_ENST00000391703.3_Silent_p.S260S|ZNF211_ENST00000541801.1_Silent_p.S312S|ZNF211_ENST00000347302.3_Silent_p.S321S NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 321 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGGGAAATCGTTTAGTCAGA 0.413 NA C||| 1072 0.214058 0.2352 0.1297 5008 , , NA 21915 0.3214 NA 0.159 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 C , 980,3426 731.2+/-410.2 117,746,1340 72 73 73 1002,963 -4.2 0 19 dbSNP_120 73 1344,7256 755.7+/-407.5 97,1150,3053 no coding-synonymous,coding-synonymous ZNF211 NM_006385.3,NM_198855.2 , 214,1896,4393 CC,CG,GG 15.6279,22.2424,17.8687 , 334/578,321/565 58152817 2324,10682 2203 4300 6503 SO:0001819 synonymous_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.1158G>C chr19.hg19:g.58152817G>C NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 6.507207 ATCxTTT COVERED 485 0.22206959706959706 135 0.27439024390243905 52 0.143646408839779 180 0.3146853146853147 118 0.15567282321899736 C 5.103 0.204570 0.09704 0.222424 0.156279 ENSG00000121417 ENST00000407202 . . . 3.21 -4.21 0.03812 . . . . . T 0.00012 0.0000 . . . 0.19575 P 0.9999641552 . . . . . . T 0.41305 -0.9516 3 . . . . 1.3807 0.02230 0.2524:0.1475:0.1254:0.4747 rs11880050;rs11880050 . . . L 325 . . V + 1 0 ZNF211 62844629 0.000000 0.05858 0.012000 0.15200 0.866000 0.49608 -4.980000 0.00163 -0.850000 0.04152 -0.977000 0.02584 GTT NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 2 17.454338 KEEP 0 0 0 58 1972 GG 1 1 0 + 10 60 367 0 0 24.491958 179 60 6082 299 ENST00000299871.5 0.05291 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58153009 58153009 __UNKNOWN__ Silent SNP C C T rs3746217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58153009C>T ENST00000299871.5 + 5 1481 c.1350C>T c.(1348-1350)atC>atT p.I450I ZNF211_ENST00000240731.4_Silent_p.I398I|ZNF211_ENST00000544273.1_Silent_p.I397I|ZNF211_ENST00000420680.1_Silent_p.I389I|ZNF211_ENST00000254182.7_Silent_p.I376I|ZNF211_ENST00000391703.3_Silent_p.I324I|ZNF211_ENST00000541801.1_Silent_p.I376I|ZNF211_ENST00000347302.3_Silent_p.I385I NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 385 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAGCCTGATCTACCACCAGA 0.473 NA T||| 1072 0.214058 0.2352 0.1297 5008 , , NA 22138 0.3214 NA 0.159 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 T , 979,3427 731.6+/-410.3 117,745,1341 70 76 74 1194,1155 -1.4 0 19 dbSNP_107 74 1346,7254 756.1+/-407.5 97,1152,3051 no coding-synonymous,coding-synonymous ZNF211 NM_006385.3,NM_198855.2 , 214,1897,4392 TT,TC,CC 15.6512,22.2197,17.8764 , 398/578,385/565 58153009 2325,10681 2203 4300 6503 SO:0001819 synonymous_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.1350C>T chr19.hg19:g.58153009C>T NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 5.915434 GATxTAC COVERED NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 3 15.04811 KEEP 0 0 0 50 1744 CC 1 1 0 + 8 60 268 0 0 16.289232 179 60 6803 269 ENST00000299871.5 0.042781 1 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58153756 58153756 __UNKNOWN__ 3'UTR SNP G G A rs12618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58153756G>A ENST00000299871.5 + 0 2228 ZNF211_ENST00000240731.4_3'UTR|ZNF211_ENST00000544273.1_3'UTR|ZNF211_ENST00000391703.3_3'UTR|ZNF211_ENST00000541801.1_3'UTR|ZNF211_ENST00000347302.3_3'UTR NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCTCTTGCCGTTTATGTCAC 0.458 NA A||| 1073 0.214257 0.2352 0.1297 5008 , , NA 19564 0.3214 NA 0.16 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.*207G>A chr19.hg19:g.58153756G>A NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 4.250031 GCCxTTT COVERED NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 2 5.110007 KEEP 0 0 0 17 543 GG 0.999366 0.999364 0 + 6 60 216 0 0 14.191395 111 60 3662 148 ENST00000299871.5 0.051282 0.999998 ZNF211 10520 __UNKNOWN__ __UNKNOWN__ 19 58154092 58154092 __UNKNOWN__ 3'UTR SNP G G A rs12276 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58154092G>A ENST00000299871.5 + 0 2564 ZNF211_ENST00000240731.4_3'UTR|ZNF211_ENST00000544273.1_3'UTR|ZNF211_ENST00000391703.3_3'UTR|ZNF211_ENST00000541801.1_3'UTR|ZNF211_ENST00000347302.3_3'UTR NM_001265597.1 NP_001252526.1 Q13398 ZN211_HUMAN zinc finger protein 211 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTGTCTCACGTTGCTTTGTT 0.378 NA G||| 695 0.138778 0.1293 0.0965 5008 , , NA 20122 0.2599 NA 0.1203 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U38904 CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1 19q13.4 2013-01-08 ENSG00000121417 ENSG00000121417 10520 Zinc fingers, C2H2-type, - 13003 protein-coding gene gene with protein product 601856 NA 7633419, 9096115 Standard NM_006385 NA Approved ZNF-25, CH2H2-25 uc031rng.1 Q13398 OTTHUMG00000168012 ENST00000299871.5:c.*543G>A chr19.hg19:g.58154092G>A NA B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6 hg19 CCDS58686.1 0.02 4.109475 CACxTTG COVERED NOVEL ZNF211-005 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000397506.1 2 10.467364 KEEP 0 1 23 43 1514 GG 1 1 0 + 8 60 297 0 0 20.388351 125 60 4568 233 ENST00000299871.5 0.06015 1 AC003006.7 0 __UNKNOWN__ __UNKNOWN__ 19 58197876 58197876 __UNKNOWN__ Intron SNP C C T rs116895475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58197876C>T ENST00000594684.1 + 1 200 AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.A62V|ZNF551_ENST00000282296.5_Missense_Mutation_p.A78V|ZNF551_ENST00000599402.1_3'UTR NA NA NA GAGAATGAGGCGATAGCTTCT 0.433 NA C||| 47 0.00938498 0.0 0.0 5008 , , NA 22556 0.0417 NA 0.0 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 C VAL/ALA 0,4406 0,0,2203 93 87 89 185 -3.6 0 19 dbSNP_132 89 3,8597 3.0+/-9.4 0,3,4297 no missense ZNF551 NM_138347.3 64 0,3,6500 TT,TC,CC 0.0349,0.0,0.0231 benign 62/655 58197876 3,13003 2203 4300 6503 SO:0001627 intron_variant NA NA NA NA ENST00000594684.1:c.33+4264C>T chr19.hg19:g.58197876C>T NA hg19 0.02 6.652082 AGGxGAT COVERED 29 0.013278388278388278 0 0.0 0 0.0 29 0.050699300699300696 0 0.0 C 4.234 0.042388 0.08196 0.0 3.49E-4 ENSG00000204519 ENST00000356715;ENST00000282296 . . . 2.08 -3.63 0.04529 Krueppel-associated box (3); . . . . T 0.01905 0.0060 N 0.05259 -0.085 0.09310 N 1 B 0.17852 0.024 B 0.14578 0.011 T 0.22695 -1.0209 8 0.11182 T 0.66 . 6.4517 0.21908 0.198:0.5398:0.0:0.2622 . 78 Q7Z340 ZN551_HUMAN V 78;62 . ENSP00000282296:A62V A + 2 0 ZNF551 62889688 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.744000 0.04839 -1.756000 0.01318 -2.811000 0.00111 GCG NOVEL AC003006.7-001 PUTATIVE mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000466815.1 1 11.13612 KEEP 0 0 0 37 1296 CC 1 1 0 + 7 60 248 0 0 15.644083 154 60 5558 237 ENST00000594684.1 0.043478 1 ZNF154 7710 __UNKNOWN__ __UNKNOWN__ 19 58213952 58213952 __UNKNOWN__ Missense_Mutation SNP C C A rs2074078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58213952C>A ENST00000512439.2 - 3 561 c.365G>T c.(364-366)gGt>gTt p.G122V AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.G122V Q13106 ZN154_HUMAN zinc finger protein 154 122 NA G -> V (in dbSNP:rs2074078). regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GATGGCCCCACCGTCGCTTTT 0.498 NA C||| 836 0.166933 0.084 0.2435 5008 , , NA 19657 0.3671 NA 0.1173 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 C VAL/GLY 284,3662 14,256,1703 177 172 174 365 -1.5 0 19 dbSNP_96 174 1024,7288 64,896,3196 yes missense ZNF154 NM_001085384.1 109 78,1152,4899 AA,AC,CC 12.3195,7.1972,10.6706 benign 122/438 58213952 1308,10950 1973 4156 6129 SO:0001583 missense U20648 CCDS42639.1 19q13.4 2013-01-08 2006-08-22 ENSG00000179909 ENSG00000179909 7710 Zinc fingers, C2H2-type, - 12939 protein-coding gene gene with protein product 604085 zinc finger protein 154 (pHZ-92) NA 7557990 Standard XR_243957 NA Approved pHZ-92 uc010euf.3 Q13106 OTTHUMG00000140375 ENST00000512439.2:c.365G>T chr19.hg19:g.58213952C>A ENSP00000421258:p.Gly122Val NA A7MCY3|Q8IVG7|Q8NAR0 hg19 CCDS42639.1 0.02 11.99412 CCAxCGT COVERED 449 0.20558608058608058 52 0.10569105691056911 84 0.23204419889502761 228 0.3986013986013986 85 0.11213720316622691 C 2.938 -0.219437 0.06061 0.071972 0.123195 ENSG00000179909 ENST00000512439;ENST00000426889 T;T 0.06608 3.28;3.28 2.49 -1.45 0.08828 . . . . . T 0.00012 0.0000 L 0.60957 1.885 0.80722 P 0.0 B 0.17465 0.022 B 0.15052 0.012 T 0.45818 -0.9235 8 0.87932 D 0 . 2.2067 0.03937 0.2421:0.414:0.0:0.3439 rs2074078;rs52838251;rs58249782;rs2074078 122 Q13106 ZN154_HUMAN V 122 ENSP00000421258:G122V;ENSP00000442370:G122V ENSP00000442370:G122V G - 2 0 ZNF154 62905764 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 0.223000 0.17719 -0.205000 0.10219 -0.377000 0.06932 GGT NOVEL ZNF154-002 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000277102.2 1 12.640112 KEEP 0 0 0 42 1465 CC 1 1 0 - 15 60 528 0 0 33.846494 297 60 10799 407 ENST00000512439.2 0.048077 1 ZNF671 79891 __UNKNOWN__ __UNKNOWN__ 19 58231807 58231807 __UNKNOWN__ 3'UTR SNP A A G rs2239986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58231807A>G ENST00000317398.6 - 0 1742 AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_3'UTR NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATAGTAAGTCAGGGGCATTGG 0.493 NA G||| 3428 0.684505 0.9592 0.621 5008 , , NA 19381 0.7302 NA 0.5835 False NA ,,, NA NA NA 2504 0.4151 NA NA NA NA 0 G 3948,458 212.8+/-232.6 1762,424,17 288 322 311 -2.7 0 19 dbSNP_98 311 4615,3985 529.7+/-381.6 1241,2133,926 no utr-3 ZNF671 NM_024833.2 3003,2557,943 GG,GA,AA 46.3372,10.3949,34.1612 58231807 8563,4443 2203 4300 6503 SO:0001624 3_prime_UTR_variant CCDS12961.1 19q13.43 2013-01-08 ENSG00000083814 79891 Zinc fingers, C2H2-type, - 26279 protein-coding gene gene with protein product hypothetical protein FLJ23506 NA 12477932 Standard NM_024833 NM_024833 NA Approved FLJ23506 uc002qpz.4 Q8TAW3 ENST00000317398.6:c.*42T>C chr19.hg19:g.58231807A>G NA A6NF07|Q9H5E9 hg19 CCDS12961.1 0.02 6.375905 GTCxGGG COVERED NOVEL ZNF671-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466817.1 2 8.060527 KEEP 0 1 35 39 1263 AA 1 1 0 - 11 60 369 0 0 24.15256 170 60 6389 275 ENST00000317398.6 0.060773 1 ZNF776 284309 __UNKNOWN__ __UNKNOWN__ 19 58258466 58258466 __UNKNOWN__ Intron SNP G G T rs60751243 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58258466G>T ENST00000431353.1 + 1 251 AC003006.7_ENST00000594684.1_Intron|ZNF776_ENST00000317178.5_Intron Q68DI1 ZN776_HUMAN zinc finger protein 776 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TCAGGTAATTGTGGCGTCTTC 0.642 NA G||| 1414 0.282348 0.2171 0.3588 5008 , , NA 14870 0.4335 NA 0.3211 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 G 659,2475 85,489,993 12 15 14 0.3 0 19 dbSNP_129 14 2074,5084 326,1422,1831 no intron ZNF776 NM_173632.3 411,1911,2824 TT,TG,GG 28.9746,21.0274,26.5546 58258466 2733,7559 1567 3579 5146 SO:0001627 intron_variant AK095607 CCDS12962.2 19q13.43 2013-01-08 ENSG00000152443 ENSG00000152443 284309 Zinc fingers, C2H2-type, - 26765 protein-coding gene gene with protein product NA Standard NM_173632 NM_173632 NA Approved FLJ38288 Q68DI1 OTTHUMG00000156943 ENST00000431353.1:c.33+7G>T chr19.hg19:g.58258466G>T NA Q6ZS36|Q8N968 hg19 0.02 12.782329 ATTxTGG COVERED NOVEL ZNF776-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000346735.1 2 44.810931 KEEP 0 0 0 149 5253 GG 1 1 0 + 12 60 431 0 0 26.748039 300 60 11240 599 ENST00000431353.1 0.038462 1 ZNF776 284309 __UNKNOWN__ __UNKNOWN__ 19 58266192 58266192 __UNKNOWN__ 3'UTR SNP C C T rs12609667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58266192C>T ENST00000317178.5 + 0 1957 ZNF776_ENST00000489376.1_3'UTR NM_173632.3 NP_775903.3 Q68DI1 ZN776_HUMAN zinc finger protein 776 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) ATAGCAAGATCACACTGGGGA 0.418 NA C||| 1495 0.298522 0.1944 0.4078 5008 , , NA 21918 0.4226 NA 0.3608 False NA ,,, NA NA NA 2504 0.1697 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095607 CCDS12962.2 19q13.43 2013-01-08 ENSG00000152443 ENSG00000152443 284309 Zinc fingers, C2H2-type, - 26765 protein-coding gene gene with protein product NA Standard NM_173632 NM_173632 NA Approved FLJ38288 Q68DI1 OTTHUMG00000156943 ENST00000317178.5:c.*137C>T chr19.hg19:g.58266192C>T NA Q6ZS36|Q8N968 hg19 CCDS12962.2 0.02 3.862569 GATxACA COVERED NOVEL ZNF776-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346722.2 2 5.718697 KEEP 0 0 0 19 674 CC 0.99986 0.999859 0 + 7 60 249 0 0 16.479296 120 60 4546 168 ENST00000317178.5 0.055118 1 ZNF776 284309 __UNKNOWN__ __UNKNOWN__ 19 58269173 58269173 __UNKNOWN__ 3'UTR SNP G G C rs13037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58269173G>C ENST00000317178.5 + 0 4938 NM_173632.3 NP_775903.3 Q68DI1 ZN776_HUMAN zinc finger protein 776 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) GCCTCTCCATGCTCCAGACAA 0.348 NA C||| 3357 0.670327 0.8964 0.6686 5008 , , NA 15971 0.7282 NA 0.5944 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095607 CCDS12962.2 19q13.43 2013-01-08 ENSG00000152443 ENSG00000152443 284309 Zinc fingers, C2H2-type, - 26765 protein-coding gene gene with protein product NA Standard NM_173632 NM_173632 NA Approved FLJ38288 Q68DI1 OTTHUMG00000156943 ENST00000317178.5:c.*3118G>C chr19.hg19:g.58269173G>C NA Q6ZS36|Q8N968 hg19 CCDS12962.2 0.02 4.464325 CATxCTC COVERED NOVEL ZNF776-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000346722.2 2 8.427777 KEEP 0 0 0 28 1012 GG 0.999997 0.999997 0 + 5 60 189 0 0 11.952742 133 60 5066 210 ENST00000317178.5 0.036232 1 ZNF586 54807 __UNKNOWN__ __UNKNOWN__ 19 58291228 58291228 __UNKNOWN__ 3'UTR SNP A A G rs2158013 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58291228A>G ENST00000396154.2 + 0 1446 ZNF586_ENST00000391702.3_3'UTR|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron NM_017652.3 NP_060122.2 Q9NXT0 ZN586_HUMAN zinc finger protein 586 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGTTCACACCAGATCAAGGTG 0.413 NA G||| 3417 0.682308 0.9516 0.6715 5008 , , NA 19776 0.7113 NA 0.5944 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK095993 CCDS42640.1, CCDS56107.1, CCDS56108.1 19q13.43 2013-01-08 ENSG00000083828 54807 Zinc fingers, C2H2-type, - 25949 protein-coding gene gene with protein product NA 12477932 Standard NM_017652 NM_017652 NA Approved FLJ20070 uc002qqd.3 Q9NXT0 ENST00000396154.2:c.*64A>G chr19.hg19:g.58291228A>G NA A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3 hg19 CCDS42640.1 0.02 9.695411 ACCxGAT COVERED NOVEL ZNF586-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466825.2 1 4.114332 KEEP 0 3 104 50 1509 AA 1 1 0 + 10 60 351 0 0 21.16347 269 60 10018 368 ENST00000396154.2 0.035842 1 ZNF552 79818 __UNKNOWN__ __UNKNOWN__ 19 58326001 58326001 __UNKNOWN__ Intron SNP A A G rs2303817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58326001A>G ENST00000391701.1 - 1 203 ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_3'UTR NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AGAGCCGTAAACAGGTGCCGC 0.637 NA G||| 2883 0.575679 0.6702 0.6239 5008 , , NA 15305 0.6498 NA 0.5328 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 G 870,514 278,314,100 20 25 23 -2.2 0 19 dbSNP_100 23 1662,1520 427,808,356 no intron ZNF552 NM_024762.3 705,1122,456 GG,GA,AA 47.7687,37.1387,44.5466 58326001 2532,2034 692 1591 2283 SO:0001627 intron_variant AK097041 CCDS12963.1 19q13.43 2013-09-20 ENSG00000178935 ENSG00000178935 79818 Zinc fingers, C2H2-type, - 26135 protein-coding gene gene with protein product NA Standard NM_024762 XM_005259267 NA Approved FLJ21603 uc002qqg.3 Q9H707 OTTHUMG00000183478 ENST00000391701.1:c.33+77T>C chr19.hg19:g.58326001A>G NA B3KUE9|Q6P5A6 hg19 CCDS12963.1 0.02 16.75797 TAAxCAG COVERED NOVEL ZNF552-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466829.1 4 40.728495 KEEP 0 6 223 213 6540 AA 1 1 0 - 17 60 653 0 0 43.44689 354 70 12652 788 ENST00000391701.1 0.045822 1 ZNF587B 100293516 __UNKNOWN__ __UNKNOWN__ 19 58352522 58352522 __UNKNOWN__ Silent SNP G G A rs12981244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58352522G>A ENST00000594901.1 + 3 696 c.480G>A c.(478-480)agG>agA p.R160R ZNF587B_ENST00000442832.4_Silent_p.R160R|ZNF587B_ENST00000316462.4_Splice_Site_p.R159R|CTD-2583A14.10_ENST00000598031.1_Intron E7ETH6 Z587B_HUMAN zinc finger protein 587B 160 NA regulation of transcription, DNA-templated (GO:0006355) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) NA TTGTGAAGAGGTGTAAGTTGC 0.483 NA .||| 2869 0.572883 0.7405 0.5634 5008 , , NA 21204 0.6796 NA 0.4622 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AK299091 CCDS56109.1 19q13.43 2013-01-08 ENSG00000269343 100293516 Zinc fingers, C2H2-type, - 37142 protein-coding gene gene with protein product NA Standard NM_001204818 NM_001204818 NA Approved uc021vcp.1 E7ETH6 ENST00000594901.1:c.480G>A chr19.hg19:g.58352522G>A NA B4DR41 hg19 0.02 17.971078 GAGxTGT COVERED NOVEL ZNF587B-002 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000466833.2 3 15.710778 KEEP 14 3 73 78 2806 GG 1 1 0 + 12 60 459 0 0 27.629357 436 60 16360 697 ENST00000594901.1 0.026786 1 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58371312 58371312 __UNKNOWN__ Missense_Mutation SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58371312A>G ENST00000339656.5 + 3 1714 c.1532A>G c.(1531-1533)aAa>aGa p.K511R ZNF587_ENST00000423137.1_Missense_Mutation_p.K510R|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.K468R|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 511 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) CATGTTCATAAAAGAGTTCAT 0.408 NA NA NA NA NA NA NA NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 93 96 95 NA NA 19 NA 58371312 2203 4297 6500 SO:0001583 missense AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.1532A>G chr19.hg19:g.58371312A>G ENSP00000345479:p.Lys511Arg NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 16.696752 ATAxAAG COVERED . . . . . . . . . . . 1.288 -0.608284 0.03717 . . ENSG00000198466 ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854 T;T;T 0.17854 2.25;2.25;2.25 1.44 0.24 0.15489 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.10035 0.0246 N 0.17764 0.52 0.22745 N 0.998785 B;B 0.24618 0.007;0.107 B;B 0.31191 0.005;0.125 T 0.33904 -0.9850 8 0.30854 T 0.27 . 4.766 0.13132 0.6342:0.0:0.3658:0.0 . 510;511 G3V0H5;Q96SQ5 .;ZN587_HUMAN R 468;510;511;511;468 ENSP00000393865:K510R;ENSP00000345479:K511R;ENSP00000406999:K468R ENSP00000345479:K511R K + 2 0 ZNF587 63063124 0.000000 0.05858 0.001000 0.08648 0.600000 0.36913 -0.595000 0.05727 -0.181000 0.10619 0.164000 0.16699 AAA NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 3 23.751335 KEEP 2 0 0 79 2408 AA 1 1 0 + 15 49 559 0 0 35.766926 363 52 13034 527 ENST00000339656.5 0.039683 1 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58372610 58372610 __UNKNOWN__ 3'UTR SNP C C G rs12609890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58372610C>G ENST00000339656.5 + 0 3012 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_3'UTR|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) aatttctgttctatcttacca 0.284 NA .||| 768 0.153355 0.0666 0.2205 5008 , , NA 21222 0.3274 NA 0.1193 False NA ,,, NA NA NA 2504 0.0787 NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*1102C>G chr19.hg19:g.58372610C>G NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 1.768842 GTTxTAT COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 1 4.514474 KEEP 0 0 0 15 519 CC 0.99649 0.995899 0 + 4 60 148 0 0 9.769401 78 60 2935 107 ENST00000339656.5 0.04878 0.999407 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58374130 58374130 __UNKNOWN__ 3'UTR SNP C C T rs7253130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58374130C>T ENST00000339656.5 + 0 4532 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_3'UTR|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ATGGGACATTCTGAGGGACCC 0.493 NA .||| 1424 0.284345 0.2443 0.379 5008 , , NA 18565 0.3899 NA 0.2773 False NA ,,, NA NA NA 2504 0.1697 NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*2622C>T chr19.hg19:g.58374130C>T NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 22.477089 ATTxTGA COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 3 14.07915 KEEP 0 1 29 57 1984 CC 1 1 0 + 26 60 931 0 0 59.215646 565 60 21270 737 ENST00000339656.5 0.043993 1 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58375710 58375710 __UNKNOWN__ 3'UTR SNP C C G rs10423152 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58375710C>G ENST00000339656.5 + 0 6112 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) ctacgttagccaggctggtct 0.537 NA .||| 1872 0.373802 0.5567 0.4107 5008 , , NA 15351 0.3919 NA 0.2863 False NA ,,, NA NA NA 2504 0.1718 NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*4202C>G chr19.hg19:g.58375710C>G NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 3.802004 AGCxAGG COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 0 7.824409 KEEP 0 0 0 26 851 CC 0.999957 0.999957 0 + 10 60 293 0 0 18.898722 124 60 4462 164 ENST00000339656.5 0.074627 1 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58376008 58376008 __UNKNOWN__ 3'UTR SNP C C T rs10402633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58376008C>T ENST00000339656.5 + 0 6410 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TCAGTAATATCTTCATCCTTC 0.333 NA .||| 2029 0.405152 0.5552 0.4784 5008 , , NA 18764 0.4008 NA 0.3638 False NA ,,, NA NA NA 2504 0.1973 NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*4500C>T chr19.hg19:g.58376008C>T NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 5.88248 TATxTTC COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 1 3.912118 KEEP 0 0 0 13 441 CC 0.994391 0.994391 0 + 6 42 216 0 0 13.210943 163 60 6147 186 ENST00000339656.5 0.035503 1 ZNF587 84914 __UNKNOWN__ __UNKNOWN__ 19 58376065 58376065 __UNKNOWN__ 3'UTR SNP A A G rs531600744 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58376065A>G ENST00000339656.5 + 0 6467 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) AGGAGTTTCAATGATATCTAG 0.323 NA .||| 1 0.000199681 0.0008 0.0 5008 , , NA 18321 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Pancreas(59;641 1233 1885 20055 50741) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF294842 CCDS12964.1, CCDS56110.1 19q13.43 2013-01-08 ENSG00000198466 84914 Zinc fingers, C2H2-type, - 30955 protein-coding gene gene with protein product NA 10520746 Standard NM_032828 NM_032828 NA Approved ZF6, FLJ14710, UBF-fl, FLJ20813 uc002qql.3 Q96SQ5 OTTHUMG00000154901 ENST00000339656.5:c.*4557A>G chr19.hg19:g.58376065A>G NA A0AV72|G3V0H5|Q6ZMK8 hg19 CCDS12964.1 0.02 4.37004 TCAxTGA COVERED NOVEL ZNF587-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000337594.2 1 5.115623 KEEP 1 0 0 17 551 AA 0.999366 0.999366 0 + 5 60 188 0 0 12.053995 121 60 4419 181 ENST00000339656.5 0.039683 1 ZNF814 730051 __UNKNOWN__ __UNKNOWN__ 19 58386651 58386651 __UNKNOWN__ Intron SNP C C A rs12610589 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58386651C>A ENST00000435989.2 - 3 398 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AAGGCACAGACCACCCACAAG 0.468 NA .||| 1530 0.305511 0.2723 0.3818 5008 , , NA 22313 0.4385 NA 0.2843 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46212.1 19q13.43 2013-01-08 ENSG00000204514 ENSG00000204514 730051 Zinc fingers, C2H2-type, - 33258 protein-coding gene gene with protein product NA Standard XM_001725708 NM_001144989 NA Approved uc002qqo.2 B7Z6K7 ENST00000435989.2:c.164-57G>T chr19.hg19:g.58386651C>A NA A6NF35 hg19 CCDS46212.1 0.02 4.179165 AGAxCAC COVERED NOVEL ZNF814-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466976.1 0 10.834553 KEEP 52 0 0 36 1238 CC 0.999879 0.999878 0 - 5 47 186 0 0 11.871779 120 60 4420 231 ENST00000435989.2 0.04 0.999999 ZNF814 730051 __UNKNOWN__ __UNKNOWN__ 19 58386762 58386762 __UNKNOWN__ Intron SNP A A G rs7252219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58386762A>G ENST00000435989.2 - 3 398 ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 NA NA regulation of transcription, DNA-templated (GO:0006355) intracellular (GO:0005622) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 CTGGACTATAACGGTCACAGA 0.438 NA .||| 1695 0.338458 0.3896 0.3963 5008 , , NA 22387 0.4385 NA 0.2843 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS46212.1 19q13.43 2013-01-08 ENSG00000204514 ENSG00000204514 730051 Zinc fingers, C2H2-type, - 33258 protein-coding gene gene with protein product NA Standard XM_001725708 NM_001144989 NA Approved uc002qqo.2 B7Z6K7 ENST00000435989.2:c.164-168T>C chr19.hg19:g.58386762A>G NA A6NF35 hg19 CCDS46212.1 0.02 4.390961 ATAxCGG COVERED NOVEL ZNF814-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466976.1 1 3.145894 KEEP 0 1 39 24 764 AA 0.999931 0.999931 0 - 7 60 257 0 0 17.088228 128 60 4634 205 ENST00000435989.2 0.051852 1 ZNF418 147686 __UNKNOWN__ __UNKNOWN__ 19 58438691 58438691 __UNKNOWN__ Silent SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58438691A>G ENST00000396147.1 - 4 1149 c.858T>C c.(856-858)taT>taC p.Y286Y ZNF418_ENST00000595830.1_Silent_p.Y286Y|ZNF418_ENST00000425570.3_Silent_p.Y307Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Silent_p.Y201Y NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 286 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CTCCACATTCATAAGGTCTTT 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 83 87 85 NA NA 19 NA 58438691 2186 4294 6480 SO:0001819 synonymous_variant AB075836, AY695825 CCDS42642.1 19q13.43 2013-01-08 ENSG00000196724 147686 Zinc fingers, C2H2-type, - 20647 protein-coding gene gene with protein product NA 11853319 Standard NM_133460 NM_133460 NA Approved KIAA1956, FLJ31551 uc002qqs.1 Q8TF45 ENST00000396147.1:c.858T>C chr19.hg19:g.58438691A>G NA Q2M1S2|Q670L5|Q96N18 hg19 CCDS42642.1 0.02 7.540631 TTCxTAA COVERED NOVEL ZNF418-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466693.1 1 13.538928 KEEP 0 0 0 45 1390 AA 1 1 0 - 9 60 308 0 0 18.424054 232 60 8458 332 ENST00000396147.1 0.037344 1 ZNF418 147686 __UNKNOWN__ __UNKNOWN__ 19 58439306 58439306 __UNKNOWN__ Silent SNP G G A rs7253514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58439306G>A ENST00000396147.1 - 4 534 c.243C>T c.(241-243)gcC>gcT p.A81A ZNF418_ENST00000595830.1_Silent_p.A81A|ZNF418_ENST00000425570.3_Silent_p.A102A|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_5'UTR NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 81 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CACAAGAGTGGGCCTTCTTGG 0.507 NA G||| 1448 0.289137 0.2595 0.3573 5008 , , NA 18775 0.4048 NA 0.2545 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 G 1066,3340 131,804,1268 62 66 64 243 -1.5 0 19 dbSNP_116 64 2219,6381 293,1633,2374 no coding-synonymous ZNF418 NM_133460.1 424,2437,3642 AA,AG,GG 25.8023,24.1943,25.2576 81/677 58439306 3285,9721 2203 4300 6503 SO:0001819 synonymous_variant AB075836, AY695825 CCDS42642.1 19q13.43 2013-01-08 ENSG00000196724 147686 Zinc fingers, C2H2-type, - 20647 protein-coding gene gene with protein product NA 11853319 Standard NM_133460 NM_133460 NA Approved KIAA1956, FLJ31551 uc002qqs.1 Q8TF45 ENST00000396147.1:c.243C>T chr19.hg19:g.58439306G>A NA Q2M1S2|Q670L5|Q96N18 hg19 CCDS42642.1 0.02 6.460453 GTGxGCC COVERED NOVEL ZNF418-001 KNOWN NMD_exception|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000466693.1 1 5.352946 KEEP 0 1 32 29 1060 GG 0.999997 0.999997 0 - 7 60 260 0 0 16.859117 153 60 5503 226 ENST00000396147.1 0.04375 1 ZNF135 7694 __UNKNOWN__ __UNKNOWN__ 19 58572959 58572959 __UNKNOWN__ 5'UTR SNP G G A rs2288274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58572959G>A ENST00000506786.1 + 0 473 ZNF135_ENST00000511556.1_Silent_p.T15T|ZNF135_ENST00000401053.4_Silent_p.T27T|ZNF135_ENST00000359978.6_Silent_p.T27T|ZNF135_ENST00000313434.5_Silent_p.T15T|ZNF135_ENST00000439855.2_Silent_p.T15T P52742 ZN135_HUMAN zinc finger protein 135 NA NA cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) AGCAAGTGACGTTTGAGGACG 0.602 NA G||| 1351 0.269768 0.2859 0.2277 5008 , , NA 18117 0.2649 NA 0.2992 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 G ,,,, 1289,3117 438.0+/-345.2 185,919,1099 133 117 122 81,81,81,45,81 -1 0.9 19 dbSNP_100 122 2345,6255 392.4+/-344.0 308,1729,2263 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ZNF135 NM_001164527.1,NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1 ,,,, 493,2648,3362 AA,AG,GG 27.2674,29.2556,27.941 ,,,, 27/124,27/116,27/391,15/671,27/683 58572959 3634,9372 2203 4300 6503 SO:0001623 5_prime_UTR_variant U09413 CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1 19q13.4 2013-01-08 2006-05-12 ENSG00000176293 7694 Zinc fingers, C2H2-type, - 12919 protein-coding gene gene with protein product 604077 zinc finger protein 61, zinc finger protein 135 (clone pHZ-17) ZNF61, ZNF78L1 NA 7557990, 1505991 Standard NM_003436 NM_003436 NA Approved pHZ-17 uc002qrg.3 P52742 ENST00000506786.1:c.-82G>A chr19.hg19:g.58572959G>A NA B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7 hg19 0.02 8.610436 GACxTTT COVERED 625 0.28617216117216115 158 0.32113821138211385 80 0.22099447513812154 158 0.2762237762237762 229 0.3021108179419525 G 7.475 0.647440 0.14516 0.292556 0.272674 ENSG00000176293 ENST00000391699 . . . 2.52 -1.02 0.10135 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999899716 . . . . . . T 0.42207 -0.9465 3 . . . . 1.8703 0.03207 0.1896:0.2962:0.3818:0.1323 rs2288274;rs56480989;rs57809788;rs2288274 . . . H 21 . . R + 2 0 ZNF135 63264771 0.000000 0.05858 0.950000 0.38849 0.869000 0.49853 -2.496000 0.00970 -0.105000 0.12132 -1.339000 0.01253 CGT NOVEL ZNF135-005 KNOWN basic|exp_conf protein_coding NA protein_coding OTTHUMT00000361901.2 0 17.153055 KEEP 0 0 0 57 1939 GG 1 1 0 + 8 60 294 0 0 18.465315 202 60 7044 350 ENST00000506786.1 0.038095 1 RPS5 6193 __UNKNOWN__ __UNKNOWN__ 19 58904396 58904396 __UNKNOWN__ Silent SNP G G A rs10853905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:58904396G>A ENST00000596046.1 + 2 1011 c.162G>A c.(160-162)ggG>ggA p.G54G RPS5_ENST00000598098.1_Intron|RPS5_ENST00000196551.3_Silent_p.G54G|RPS5_ENST00000598495.1_Silent_p.G75G|RPS5_ENST00000601521.1_Silent_p.G54G P46782 RS5_HUMAN ribosomal protein S5 54 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529) mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) ACAGTGCAGGGCGGTATGCCG 0.552 NA .||| 674 0.134585 0.056 0.1744 5008 , , NA 21372 0.3462 NA 0.0616 False NA ,,, NA NA NA 2504 0.0695 NA NA NA NA 0 G 245,4161 142.3+/-177.5 3,239,1961 49 40 43 162 -6.8 0.9 19 dbSNP_120 43 614,7986 159.8+/-213.0 26,562,3712 no coding-synonymous RPS5 NM_001009.3 29,801,5673 AA,AG,GG 7.1395,5.5606,6.6046 54/205 58904396 859,12147 2203 4300 6503 SO:0001819 synonymous_variant U14970 CCDS12978.1 19q13.4 2011-04-05 ENSG00000083845 6193 S ribosomal proteins 10426 protein-coding gene gene with protein product 40S ribosomal protein S5 603630 NA 7772601, 9582194 Standard NM_001009 NM_001009 NA Approved S5 uc002qsn.3 P46782 ENST00000596046.1:c.162G>A chr19.hg19:g.58904396G>A NA B2R4T2|Q96BN0 hg19 CCDS12978.1 0.02 12.029298 AGGxCGG COVERED NOVEL RPS5-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467016.1 3 24.633801 KEEP 0 0 0 82 2887 GG 1 1 0 + 12 60 401 0 0 24.096861 296 60 10687 462 ENST00000596046.1 0.038961 1 TRIM28 10155 __UNKNOWN__ __UNKNOWN__ 19 59059729 59059729 __UNKNOWN__ Silent SNP G G A rs2305120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr19:59059729G>A ENST00000253024.5 + 8 1459 c.1170G>A c.(1168-1170)aaG>aaA p.K390K TRIM28_ENST00000341753.6_Silent_p.K308K NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 390 NA convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367) nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GCGAGATGAAGTTTCAGTGGG 0.547 NA G||| 688 0.13738 0.0968 0.0836 5008 , , NA 17254 0.3135 NA 0.0537 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 G 364,4042 185.3+/-212.5 15,334,1854 74 72 73 1170 -0.9 1 19 dbSNP_100 73 528,8072 148.5+/-203.7 22,484,3794 no coding-synonymous TRIM28 NM_005762.2 37,818,5648 AA,AG,GG 6.1395,8.2615,6.8584 390/836 59059729 892,12114 2203 4300 6503 SO:0001819 synonymous_variant CCDS12985.1 19q13.4 2014-06-13 2011-01-25 ENSG00000130726 10155 Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers, Zinc fingers, PHD-type 16384 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 157 601742 tripartite motif-containing 28 NA 11331580, 11226167 Standard NM_005762 NM_005762 NA Approved TIF1B, KAP1, TF1B, RNF96, PPP1R157 uc002qtg.1 Q13263 ENST00000253024.5:c.1170G>A chr19.hg19:g.59059729G>A NA O00677|Q7Z632|Q93040|Q96IM1 hg19 CCDS12985.1 0.02 12.357959 GAAxTTT COVERED NOVEL TRIM28-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000467074.1 0 29.495612 KEEP 0 0 0 98 3481 GG 1 1 0 + 12 60 396 0 0 23.522864 304 60 11377 485 ENST00000253024.5 0.037975 1 SLC52A3 113278 __UNKNOWN__ __UNKNOWN__ 20 744570 744570 __UNKNOWN__ Silent SNP G G A rs6054605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:744570G>A ENST00000217254.7 - 3 886 c.645C>T c.(643-645)ccC>ccT p.P215P SLC52A3_ENST00000381944.3_Silent_p.P215P|SLC52A3_ENST00000473664.1_Intron NM_033409.3 NP_212134.3 Q9NQ40 S52A3_HUMAN solute carrier family 52 (riboflavin transporter), member 3 215 NA cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) riboflavin transporter activity (GO:0032217) NA AGAAGTGGGCGGGAAGGTAGC 0.607 NA G||| 692 0.138179 0.0522 0.072 5008 , , NA 18546 0.4534 NA 0.0497 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 G 199,4207 121.3+/-158.8 4,191,2008 57 49 52 645 -9.9 0 20 dbSNP_114 52 437,8163 131.5+/-189.3 7,423,3870 no coding-synonymous C20orf54 NM_033409.3 11,614,5878 AA,AG,GG 5.0814,4.5166,4.8901 215/470 744570 636,12370 2203 4300 6503 SO:0001819 synonymous_variant AL118502 CCDS13007.1 20p13 2013-07-17 2013-07-17 2012-02-29 ENSG00000101276 ENSG00000101276 113278 Solute carriers 16187 protein-coding gene gene with protein product hypothetical protein LOC113278 613350 chromosome 20 open reading frame 54 C20orf54 NA 11780052, 19122205 Standard NM_033409 NM_033409 NA Approved bA371L19.1, hRFT2, RFVT3 uc002wed.4 Q9NQ40 OTTHUMG00000031647 ENST00000217254.7:c.645C>T chr20.hg19:g.744570G>A NA A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5 hg19 CCDS13007.1 0.02 4.566203 GGCxGGA COVERED NOVEL SLC52A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077482.2 1 5.417265 KEEP 0 0 0 18 610 GG 0.999859 0.999859 0 - 7 70 271 0 0 18.422586 131 70 4667 185 ENST00000217254.7 0.050725 1 TMEM74B 55321 __UNKNOWN__ __UNKNOWN__ 20 1161976 1161976 __UNKNOWN__ Missense_Mutation SNP C C T rs142365258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1161976C>T ENST00000381894.3 - 2 958 c.287G>A c.(286-288)cGa>cAa p.R96Q TMEM74B_ENST00000481747.1_5'UTR NM_018354.1 NP_060824.1 Q9NUR3 TM74B_HUMAN transmembrane protein 74B 96 NA integral component of membrane (GO:0016021) NA CCGCTGGGATCGGGGCAGTGA 0.617 NA C||| 3 0.000599042 0.0 0.0 5008 , , NA 17834 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C GLN/ARG 1,4405 0,1,2202 50 59 56 287 3.3 0.8 20 dbSNP_134 56 15,8585 11.2+/-40.8 0,15,4285 yes missense C20orf46 NM_018354.1 43 0,16,6487 TT,TC,CC 0.1744,0.0227,0.123 probably-damaging 96/257 1161976 16,12990 2203 4300 6503 SO:0001583 missense AK002052 CCDS13011.1 20p13 2011-11-23 2011-11-23 2011-11-23 ENSG00000125895 ENSG00000125895 55321 15893 protein-coding gene gene with protein product chromosome 20 open reading frame 46 C20orf46 NA Standard NM_018354 XM_005260748 NA Approved FLJ11190 uc002weq.1 Q9NUR3 OTTHUMG00000031655 ENST00000381894.3:c.287G>A chr20.hg19:g.1161976C>T ENSP00000371318:p.Arg96Gln NA D3DVW5 hg19 CCDS13011.1 0.02 18.149187 GATxGGG COVERED . . . . . . . . . . C 15.71 2.914705 0.52546 2.27E-4 0.001744 ENSG00000125895 ENST00000381894;ENST00000429036 T;T 0.47528 0.85;0.84 4.29 3.32 0.38043 . 0.202560 0.24630 N 0.036893 T 0.39708 0.1088 L 0.50333 1.59 0.28798 N 0.898944 D 0.56521 0.976 B 0.43360 0.417 T 0.30387 -0.9980 10 0.22706 T 0.39 -22.0944 10.3553 0.43960 0.0:0.8981:0.0:0.1019 . 96 Q9NUR3 CT046_HUMAN Q 96 ENSP00000371318:R96Q;ENSP00000400552:R96Q ENSP00000371318:R96Q R - 2 0 C20orf46 1109976 0.449000 0.25689 0.765000 0.31456 0.718000 0.41266 0.517000 0.22832 2.199000 0.70637 0.563000 0.77884 CGA NOVEL TMEM74B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077496.2 2 12.641166 KEEP 0 0 0 42 1490 CC 1 1 0 - 13 60 483 0 0 29.550345 392 60 13613 517 ENST00000381894.3 0.032099 1 SNPH 9751 __UNKNOWN__ __UNKNOWN__ 20 1287051 1287051 __UNKNOWN__ 3'UTR SNP G G A rs3764715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1287051G>A ENST00000381873.3 + 0 2074 SNPH_ENST00000381867.1_3'UTR NM_014723.2 NP_055538.2 O15079 SNPH_HUMAN syntaphilin NA NA brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081) cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734) syntaxin-1 binding (GO:0017075) endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 TGGGGAAGCCGGGCTTGAGTT 0.662 NA G||| 1587 0.316893 0.1415 0.3228 5008 , , NA 17319 0.4286 NA 0.3419 False NA ,,, NA NA NA 2504 0.409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13012.1 20p13 2008-07-02 ENSG00000101298 ENSG00000101298 9751 15931 protein-coding gene gene with protein product 604942 NA 10707983 Standard NM_014723 NM_014723 NA Approved bA314N13.5 uc002wes.3 O15079 OTTHUMG00000031662 ENST00000381873.3:c.*353G>A chr20.hg19:g.1287051G>A NA Q8IYI3 hg19 CCDS13012.1 0.02 14.522082 GCCxGGC COVERED NOVEL SNPH-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000145240.2 1 12.038056 KEEP 0 0 0 40 1342 GG 1 1 0 + 10 60 364 0 0 21.024242 377 60 13074 503 ENST00000381873.3 0.02584 1 SNPH 9751 __UNKNOWN__ __UNKNOWN__ 20 1288223 1288223 __UNKNOWN__ 3'UTR SNP T T C rs6134520 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1288223T>C ENST00000381873.3 + 0 3246 SNPH_ENST00000381867.1_3'UTR NM_014723.2 NP_055538.2 O15079 SNPH_HUMAN syntaphilin NA NA brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081) cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734) syntaxin-1 binding (GO:0017075) endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGGGCCACTCTGGTTATCTGC 0.617 NA T||| 1621 0.323682 0.1581 0.3314 5008 , , NA 19619 0.4296 NA 0.3459 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13012.1 20p13 2008-07-02 ENSG00000101298 ENSG00000101298 9751 15931 protein-coding gene gene with protein product 604942 NA 10707983 Standard NM_014723 NM_014723 NA Approved bA314N13.5 uc002wes.3 O15079 OTTHUMG00000031662 ENST00000381873.3:c.*1525T>C chr20.hg19:g.1288223T>C NA Q8IYI3 hg19 CCDS13012.1 0.02 29.073773 CTCxGGT COVERED NOVEL SNPH-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000145240.2 7 20.759498 KEEP 0 0 0 69 2118 TT 1 1 0 + 27 60 995 0 0 63.278517 642 60 23923 885 ENST00000381873.3 0.040359 1 SDCBP2 27111 __UNKNOWN__ __UNKNOWN__ 20 1300911 1300911 __UNKNOWN__ Intron SNP C C T rs190061889 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1300911C>T ENST00000360779.3 - 2 228 SDCBP2_ENST00000339987.3_Intron|SDCBP2_ENST00000381812.1_Intron NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 NA NA intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 CTGAGGCCTACGGGAATCTCC 0.582 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 19252 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF131809 CCDS13013.1, CCDS42848.1 20p13 2008-07-02 ENSG00000125775 ENSG00000125775 27111 15756 protein-coding gene gene with protein product NA 11152476 Standard NM_080489 NM_080489 NA Approved ST-2, SITAC18 uc021vzn.1 Q9H190 OTTHUMG00000031661 ENST00000360779.3:c.54+95G>A chr20.hg19:g.1300911C>T NA O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8 hg19 CCDS42848.1 0.02 6.406786 CTAxGGG COVERED NOVEL SDCBP2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077513.2 1 6.621648 KEEP 0 0 0 22 780 CC 0.999879 0.999879 0 - 9 60 336 0 0 22.209801 179 60 6530 223 ENST00000360779.3 0.047872 1 FKBP1A 2280 __UNKNOWN__ __UNKNOWN__ 20 1350672 1350672 __UNKNOWN__ 3'UTR SNP T T C rs6041749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1350672T>C ENST00000400137.4 - 0 571 SDCBP2-AS1_ENST00000609470.1_RNA|SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381724.3_3'UTR|FKBP1A_ENST00000460490.1_5'UTR NM_000801.4 NP_000792.1 P62942 FKB1A_HUMAN FK506 binding protein 1A, 12kDa NA NA 'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018) activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713) central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864) TCCATATGGATTCATGTGCAC 0.478 NA T||| 1930 0.385383 0.5242 0.3862 5008 , , NA 18312 0.1111 NA 0.4702 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M92423 CCDS13014.1, CCDS74688.1 20p13 2013-03-20 2002-08-29 ENSG00000088832 ENSG00000088832 2280 3711 protein-coding gene gene with protein product calstabin 1 186945 FK506-binding protein 1A (12kD) FKBP1 NA 1930186 Standard NM_000801 NA Approved FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C uc002wey.3 P62942 OTTHUMG00000031666 ENST00000400137.4:c.*81A>G chr20.hg19:g.1350672T>C NA D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566 hg19 CCDS13014.1 0.02 23.073644 GGAxTCA COVERED NOVEL FKBP1A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077534.2 4 43.927283 KEEP 1 0 0 146 4704 TT 1 1 0 - 14 60 520 0 0 30.817938 511 60 18367 794 ENST00000400137.4 0.026667 1 NSFL1C 55968 __UNKNOWN__ __UNKNOWN__ 20 1423779 1423779 __UNKNOWN__ 3'UTR SNP C C T rs3088080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1423779C>T ENST00000216879.4 - 0 2595 NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_3'UTR|NSFL1C_ENST00000476071.1_3'UTR|NSFL1C_ENST00000353088.2_3'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) NA NA chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886) lipid binding (GO:0008289) breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 AGATTAGATACCCCAGGGGTT 0.512 NA T||| 2380 0.47524 0.2814 0.5144 5008 , , NA 19127 0.7887 NA 0.4095 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF112211 CCDS13015.1, CCDS13016.1, CCDS56175.1 20p13 2011-06-28 ENSG00000088833 ENSG00000088833 55968 UBX domain containing 15912 protein-coding gene gene with protein product SHP1 homolog (S. cerevisiae), UBX domain protein 2C 606610 NA 11042152 Standard NM_016143 NM_016143 NA Approved dJ776F14.1, p47, UBXD10, UBX1, UBXN2C uc002wfc.3 Q9UNZ2 OTTHUMG00000031665 ENST00000216879.4:c.*615G>A chr20.hg19:g.1423779C>T NA A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06 hg19 CCDS13015.1 0.02 6.375727 ATAxCCC COVERED NOVEL NSFL1C-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077525.2 0 5.952969 KEEP 0 1 23 28 998 CC 0.999997 0.999997 0 - 8 60 294 0 0 18.989218 173 60 6409 262 ENST00000216879.4 0.044199 1 NSFL1C 55968 __UNKNOWN__ __UNKNOWN__ 20 1423848 1423848 __UNKNOWN__ 3'UTR SNP G G T rs13063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1423848G>T ENST00000216879.4 - 0 2526 NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_3'UTR|NSFL1C_ENST00000476071.1_3'UTR|NSFL1C_ENST00000353088.2_3'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) NA NA chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886) lipid binding (GO:0008289) breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TGTGTGCATGGAGCTCTGACT 0.493 NA T||| 3078 0.614617 0.5514 0.6153 5008 , , NA 18805 0.7986 NA 0.5348 False NA ,,, NA NA NA 2504 0.592 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF112211 CCDS13015.1, CCDS13016.1, CCDS56175.1 20p13 2011-06-28 ENSG00000088833 ENSG00000088833 55968 UBX domain containing 15912 protein-coding gene gene with protein product SHP1 homolog (S. cerevisiae), UBX domain protein 2C 606610 NA 11042152 Standard NM_016143 NM_016143 NA Approved dJ776F14.1, p47, UBXD10, UBX1, UBXN2C uc002wfc.3 Q9UNZ2 OTTHUMG00000031665 ENST00000216879.4:c.*546C>A chr20.hg19:g.1423848G>T NA A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06 hg19 CCDS13015.1 0.02 6.059164 ATGxAGC COVERED NOVEL NSFL1C-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077525.2 2 7.659103 KEEP 0 1 30 36 1253 GG 1 1 0 - 6 60 215 0 0 13.0715 166 60 6059 247 ENST00000216879.4 0.034884 1 SIRPB2 284759 __UNKNOWN__ __UNKNOWN__ 20 1457910 1457910 __UNKNOWN__ Intron SNP C C A rs6135048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1457910C>A ENST00000359801.3 - 4 896 SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.G173V NM_001122962.1 NP_001116434.1 Q9P1W8 SIRPG_HUMAN signal-regulatory protein beta 2 NA NA blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CTGCTCCCTTCCCATGACCAA 0.552 NA C||| 1533 0.30611 0.0651 0.2363 5008 , , NA 20519 0.756 NA 0.1382 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL109658 CCDS42849.1, CCDS46570.1 20p13 2013-01-11 2006-02-03 2006-02-03 ENSG00000196209 ENSG00000196209 284759 Signal-regulatory proteins, Immunoglobulin superfamily / V-set domain containing 16247 protein-coding gene gene with protein product protein tyrosine phosphatase, non-receptor type 1-like, protein tyrosine phosphatase, non-receptor type substrate 1-like 3 PTPN1L, PTPNS1L3 NA 16339511 Standard NM_178459 NM_001122962 NA Approved dJ776F14.2 uc002wfg.2 Q5JXA9 OTTHUMG00000031670 ENST00000359801.3:c.859+72G>T chr20.hg19:g.1457910C>A NA B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8 hg19 CCDS42849.1 0.02 16.465659 CTTxCCA COVERED 635 0.2907509157509158 39 0.07926829268292683 78 0.2154696132596685 419 0.7325174825174825 99 0.13060686015831136 C 5.725 0.318192 0.10845 . . ENSG00000196209 ENST00000537284 T 0.03607 3.87 3.25 1.25 0.21368 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 D 0.57257 0.979 P 0.51615 0.675 T 0.09143 -1.0688 7 0.66056 D 0.02 . 4.5954 0.12327 0.0:0.6447:0.2275:0.1278 rs6135048;rs8121106;rs59614180 173 F5H204 . V 173 ENSP00000445632:G173V ENSP00000445632:G173V G - 2 0 SIRPB2 1405910 0.009000 0.17119 0.001000 0.08648 0.133000 0.20885 0.660000 0.25009 0.390000 0.25115 0.561000 0.74099 GGA NOVEL SIRPB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077544.1 0 5.35151 KEEP 0 1 29 28 971 CC 0.999997 0.999997 0 - 18 60 640 0 0 40.430255 397 60 14830 514 ENST00000359801.3 0.043373 1 RP4-576H24.4 0 __UNKNOWN__ __UNKNOWN__ 20 1538379 1538379 __UNKNOWN__ Intron SNP C C T rs73604175 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1538379C>T ENST00000564763.1 - 3 498 SIRPD_ENST00000381623.3_5'UTR NA NA NA GCAGAGAAGACAGTTCTTGCC 0.522 NA C||| 495 0.0988419 0.0038 0.1527 5008 , , NA 21455 0.1468 NA 0.1282 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000564763.1:c.434-5684G>A chr20.hg19:g.1538379C>T NA hg19 0.02 10.096468 AGAxAGT COVERED NOVEL RP4-576H24.4-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000421423.1 5 9.330406 KEEP 0 0 0 31 1114 CC 0.999997 0.999997 0 - 10 60 361 0 0 21.990059 280 60 10597 384 ENST00000564763.1 0.034483 1 SIRPG 55423 __UNKNOWN__ __UNKNOWN__ 20 1629906 1629906 __UNKNOWN__ Silent SNP C C T rs6079967 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1629906C>T ENST00000303415.3 - 2 286 c.222G>A c.(220-222)cgG>cgA p.R74R SIRPG_ENST00000216927.4_Silent_p.R74R|SIRPG_ENST00000381580.1_Silent_p.R41R|SIRPG_ENST00000344103.4_Silent_p.R74R|SIRPG_ENST00000381583.2_Silent_p.R74R NM_018556.3 NP_061026.2 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 74 Ig-like V-type. NA blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) p.R74R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 AGATTAATTCCCGGCCTGGTC 0.507 NA t||| 1761 0.351637 0.3064 0.5058 5008 , , NA 19787 0.2708 NA 0.4394 False NA ,,, NA NA NA 2504 0.2965 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T ,, 1457,2949 248,961,994 182 165 171 222,222,222 -0.1 0 20 dbSNP_114 171 3939,4661 906,2127,1267 no coding-synonymous,coding-synonymous,coding-synonymous SIRPG NM_001039508.1,NM_018556.3,NM_080816.2 ,, 1154,3088,2261 TT,TC,CC 45.8023,33.0685,41.4885 ,, 74/277,74/388,74/171 1629906 5396,7610 2203 4300 6503 SO:0001819 synonymous_variant AB042624 CCDS13020.2, CCDS13021.2, CCDS33434.1 20p13 2013-01-11 2006-02-03 2006-02-03 ENSG00000089012 ENSG00000089012 55423 Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing 15757 protein-coding gene gene with protein product 605466 signal-regulatory protein beta 2 SIRPB2 NA 11185750, 16339511 Standard NM_018556 XM_005260749 NA Approved bA77C3.1, SIRP-B2, SIRPgamma, CD172g uc002wfm.1 Q9P1W8 OTTHUMG00000031680 ENST00000303415.3:c.222G>A chr20.hg19:g.1629906C>T NA B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8 hg19 CCDS13020.2 0.02 13.302672 TTCxCGG COVERED NOVEL SIRPG-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077566.2 4 3.947269 KEEP 0 1 31 24 836 CC 0.999931 0.999931 0 - 14 60 519 0 0 33.580858 308 60 11048 402 ENST00000303415.3 0.043478 1 SIRPG 55423 __UNKNOWN__ __UNKNOWN__ 20 1638231 1638231 __UNKNOWN__ Intron SNP G G A rs66989667 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:1638231G>A ENST00000303415.3 - 1 138 SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Intron NM_018556.3 NP_061026.2 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma NA NA blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 CAAGTCCAGGGGCAAGGCTAG 0.522 NA g||| 478 0.0954473 0.1422 0.0836 5008 , , NA 19946 0.0437 NA 0.1481 False NA ,,, NA NA NA 2504 0.0399 NA NA NA NA 0 G ,, 177,1207 15,147,530 73 76 75 ,, -3.8 0 20 dbSNP_130 75 505,2677 33,439,1119 no intron,intron,intron SIRPG NM_001039508.1,NM_018556.3,NM_080816.2 ,, 48,586,1649 AA,AG,GG 15.8705,12.789,14.9365 ,, ,, 1638231 682,3884 692 1591 2283 SO:0001627 intron_variant AB042624 CCDS13020.2, CCDS13021.2, CCDS33434.1 20p13 2013-01-11 2006-02-03 2006-02-03 ENSG00000089012 ENSG00000089012 55423 Signal-regulatory proteins, CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C1-set domain containing 15757 protein-coding gene gene with protein product 605466 signal-regulatory protein beta 2 SIRPB2 NA 11185750, 16339511 Standard NM_018556 XM_005260749 NA Approved bA77C3.1, SIRP-B2, SIRPgamma, CD172g uc002wfm.1 Q9P1W8 OTTHUMG00000031680 ENST00000303415.3:c.73+56C>T chr20.hg19:g.1638231G>A NA B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8 hg19 CCDS13020.2 0.02 6.531748 AGGxGCA COVERED NOVEL SIRPG-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077566.2 2 5.116443 KEEP 0 0 0 17 575 GG 0.999366 0.999366 0 - 10 60 365 0 0 24.359484 176 60 6284 232 ENST00000303415.3 0.053763 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 2051644 2051644 __UNKNOWN__ IGR SNP G G A rs4411787|rs386811691 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2051644G>A NA NA RP4-684O24.5 (63481 upstream) : STK35 (30612 downstream) NA NA NA tgaggcgggtggattacaagg 0.478 NA g||| 2183 0.435903 0.4402 0.3646 5008 , , NA 14218 0.8145 NA 0.0785 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.2051644G>A NA hg19 0.02 -0.02632 GGTxGAT UNCOVERED NOVEL 0 5 2.707757 KEEP 1 0 0 9 282 GG 0.99257 0 0 2 60 77 0 0 7.824922 1 60 35 15 0.666667 0 TGM6 343641 __UNKNOWN__ __UNKNOWN__ 20 2380401 2380401 __UNKNOWN__ Intron SNP G G A rs200926084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2380401G>A ENST00000202625.2 + 6 911 TGM6_ENST00000381423.1_Intron|TGM6_ENST00000477505.1_Intron NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 NA NA cell death (GO:0008219)|peptide cross-linking (GO:0018149) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) TGGGAGAGAAGGGCCCCAGGG 0.522 NA G||| 9 0.00179712 0.0 0.0 5008 , , NA 15425 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 16 19 18 NA NA 20 NA 2380401 2198 4296 6494 SO:0001627 intron_variant AF540970 CCDS13025.1, CCDS58761.1 20p13 2010-12-19 2004-07-05 2004-07-07 ENSG00000166948 ENSG00000166948 343641 Transglutaminases 16255 protein-coding gene gene with protein product spinocerebellar ataxia 35 613900 transglutaminase 3-like TGM3L NA 11390390, 21106500 Standard NM_198994 NM_198994 NA Approved dJ734P14.3, TGY, SCA35 uc002wfy.1 O95932 OTTHUMG00000031692 ENST00000202625.2:c.850+17G>A chr20.hg19:g.2380401G>A NA Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8 hg19 CCDS13025.1 0.02 1.646065 GAAxGGC COVERED NOVEL TGM6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077581.2 0 6.016434 KEEP 0 0 0 20 666 GG 0.999863 0.999793 0 + 4 60 138 0 0 8.510486 91 60 3282 138 ENST00000202625.2 0.042105 0.99993 SNRPB 6628 __UNKNOWN__ __UNKNOWN__ 20 2443441 2443441 __UNKNOWN__ Intron SNP G G A rs2143862 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2443441G>A ENST00000381342.2 - 6 722 SNRPB_ENST00000339610.6_Intron|SNRPB_ENST00000438552.2_Intron NM_003091.3 NP_003082.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 NA NA gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683) histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 TATAGCTCAAGTGTCTATCTT 0.498 NA G||| 1084 0.216454 0.2504 0.1988 5008 , , NA 19270 0.2718 NA 0.1203 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 G , 940,3402 94,752,1325 22 26 25 , 3.3 0 20 dbSNP_96 25 915,7549 52,811,3369 no intron,intron SNRPB NM_003091.3,NM_198216.1 , 146,1563,4694 AA,AG,GG 10.8105,21.649,14.4854 , , 2443441 1855,10951 2171 4232 6403 SO:0001627 intron_variant CCDS13026.1, CCDS13027.1 20p13 2011-10-11 ENSG00000125835 ENSG00000125835 6628 11153 protein-coding gene gene with protein product 182282 SNRPB1 NA 1376292 Standard NM_003091 NA Approved COD, SmB/SmB', Sm-B/B', snRNP-B uc002wfz.1 P14678 OTTHUMG00000031694 ENST00000381342.2:c.560-34C>T chr20.hg19:g.2443441G>A NA Q15490|Q6IB35|Q9UIS5 hg19 CCDS13027.1 0.02 1.933267 CAAxTGT COVERED NOVEL SNRPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077584.2 1 6.92289 KEEP 0 0 0 23 849 GG 0.999892 0.99957 0 - 6 60 206 0 0 14.01637 80 60 3013 130 ENST00000381342.2 0.069767 0.999678 SNRPB 6628 __UNKNOWN__ __UNKNOWN__ 20 2451451 2451451 __UNKNOWN__ 5'UTR SNP G G T rs6049288 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2451451G>T ENST00000381342.2 - 0 48 RP4-734P14.4_ENST00000461548.1_Intron|SNRPB_ENST00000438552.2_5'UTR NM_003091.3 NP_003082.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 NA NA gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683) histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822) kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CACGTAAAATGCGGTCGGGTA 0.652 NA G||| 869 0.173522 0.1112 0.1772 5008 , , NA 18207 0.2748 NA 0.1014 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS13026.1, CCDS13027.1 20p13 2011-10-11 ENSG00000125835 ENSG00000125835 6628 11153 protein-coding gene gene with protein product 182282 SNRPB1 NA 1376292 Standard NM_003091 NA Approved COD, SmB/SmB', Sm-B/B', snRNP-B uc002wfz.1 P14678 OTTHUMG00000031694 ENST00000381342.2:c.-115C>A chr20.hg19:g.2451451G>T NA Q15490|Q6IB35|Q9UIS5 hg19 CCDS13027.1 0.02 15.556618 AATxCGG COVERED NOVEL SNRPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077584.2 2 59.290845 KEEP 0 0 0 197 7021 GG 1 1 0 - 24 60 837 0 0 56.884917 336 60 12646 707 ENST00000381342.2 0.066667 1 RP4-734P14.4 0 __UNKNOWN__ __UNKNOWN__ 20 2451504 2451504 __UNKNOWN__ Intron SNP C C T rs6049290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2451504C>T ENST00000461548.1 - 6 567 NA NA NA GGAGTTCCGGCCCCGGAGCGG 0.612 NA C||| 870 0.173722 0.1127 0.1772 5008 , , NA 18230 0.2758 NA 0.1014 False NA ,,, NA NA NA 2504 0.2229 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000461548.1:c.305-3100G>A chr20.hg19:g.2451504C>T NA hg19 0.02 8.718445 CGGxCCC COVERED NOVEL RP4-734P14.4-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000397532.1 1 25.956395 KEEP 0 1 24 95 3430 CC 1 1 0 - 13 60 449 0 0 30.174995 196 60 7368 387 ENST00000461548.1 0.062201 1 TMC2 117532 __UNKNOWN__ __UNKNOWN__ 20 2560676 2560676 __UNKNOWN__ Missense_Mutation SNP A A G rs138278466 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2560676A>G ENST00000358864.1 + 7 823 c.808A>G c.(808-810)Ata>Gta p.I270V NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 270 NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTTTGGCTTAATATTTGGTCT 0.383 NA A||| 15 0.00299521 0.0 0.0 5008 , , NA 16877 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 192 174 180 NA NA 20 NA 2560676 2203 4300 6503 SO:0001583 missense AF417580 CCDS13029.2 20p13 2010-08-05 2003-02-23 ENSG00000149488 ENSG00000149488 117532 16527 protein-coding gene gene with protein product 606707 transmembrane, cochlear expressed, 2 C20orf145 NA 11850618, 12906855 Standard XM_005260660 NA Approved dJ686C3.3 uc002wgf.1 Q8TDI7 OTTHUMG00000031698 ENST00000358864.1:c.808A>G chr20.hg19:g.2560676A>G ENSP00000351732:p.Ile270Val NA Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5 hg19 CCDS13029.2 0.02 14.556302 TTAxTAT COVERED 6 0.0027472527472527475 0 0.0 0 0.0 6 0.01048951048951049 0 0.0 A 6.878 0.531464 0.13127 . . ENSG00000149488 ENST00000358864 T 0.51071 0.72 5.12 5.12 0.69794 . 0.152389 0.56097 D 0.000028 T 0.27384 0.0672 N 0.22421 0.69 0.41517 D 0.988374 B;B;B;B 0.23650 0.004;0.006;0.069;0.089 B;B;B;B 0.32928 0.002;0.003;0.155;0.074 T 0.11470 -1.0586 10 0.11485 T 0.65 -18.0858 13.1571 0.59524 1.0:0.0:0.0:0.0 . 101;102;270;270 B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7 .;.;.;TMC2_HUMAN V 270 ENSP00000351732:I270V ENSP00000351732:I270V I + 1 0 TMC2 2508676 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 8.526000 0.90588 2.065000 0.61736 0.460000 0.39030 ATA NOVEL TMC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077601.2 0 10.229829 KEEP 0 0 0 34 1053 AA 0.999998 0.999998 0 + 14 60 509 0 0 31.505457 369 60 13672 474 ENST00000358864.1 0.036554 1 TMC2 117532 __UNKNOWN__ __UNKNOWN__ 20 2560716 2560716 __UNKNOWN__ Intron SNP T T G rs2422794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2560716T>G ENST00000358864.1 + 7 849 NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 NA NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AGAAAAGAACTTCCTAAATCT 0.353 NA T||| 403 0.0804712 0.1536 0.036 5008 , , NA 16765 0.0288 NA 0.0994 False NA ,,, NA NA NA 2504 0.047 NA NA NA NA 0 T 675,3731 286.0+/-278.5 42,591,1570 120 112 114 2 0 20 dbSNP_100 114 869,7731 196.5+/-241.4 44,781,3475 no intron TMC2 NM_080751.2 86,1372,5045 GG,GT,TT 10.1047,15.32,11.8714 2560716 1544,11462 2203 4300 6503 SO:0001627 intron_variant AF417580 CCDS13029.2 20p13 2010-08-05 2003-02-23 ENSG00000149488 ENSG00000149488 117532 16527 protein-coding gene gene with protein product 606707 transmembrane, cochlear expressed, 2 C20orf145 NA 11850618, 12906855 Standard XM_005260660 NA Approved dJ686C3.3 uc002wgf.1 Q8TDI7 OTTHUMG00000031698 ENST00000358864.1:c.834+14T>G chr20.hg19:g.2560716T>G NA Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5 hg19 CCDS13029.2 0.02 8.769196 AACxTCC COVERED NOVEL TMC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077601.2 0 5.114583 KEEP 0 0 0 17 527 TT 0.999366 0.999366 0 + 9 60 333 0 0 21.173471 217 60 7757 257 ENST00000358864.1 0.039823 1 TMC2 117532 __UNKNOWN__ __UNKNOWN__ 20 2572968 2572968 __UNKNOWN__ Missense_Mutation SNP A A G rs141680917 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2572968A>G ENST00000358864.1 + 8 862 c.847A>G c.(847-849)Atg>Gtg p.M283V NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 283 NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACTGATGGGCATGCCCTATGG 0.443 NA A||| 26 0.00519169 0.0 0.0 5008 , , NA 16298 0.0258 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 153 133 140 NA NA 20 NA 2572968 2203 4300 6503 SO:0001583 missense AF417580 CCDS13029.2 20p13 2010-08-05 2003-02-23 ENSG00000149488 ENSG00000149488 117532 16527 protein-coding gene gene with protein product 606707 transmembrane, cochlear expressed, 2 C20orf145 NA 11850618, 12906855 Standard XM_005260660 NA Approved dJ686C3.3 uc002wgf.1 Q8TDI7 OTTHUMG00000031698 ENST00000358864.1:c.847A>G chr20.hg19:g.2572968A>G ENSP00000351732:p.Met283Val NA Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5 hg19 CCDS13029.2 0.02 4.241232 GGCxTGC COVERED 9 0.004120879120879121 0 0.0 0 0.0 9 0.015734265734265736 0 0.0 A 4.992 0.184192 0.09495 . . ENSG00000149488 ENST00000358864 T 0.12984 2.63 4.9 -3.48 0.04739 . 0.495292 0.23856 N 0.043893 T 0.02083 0.0065 N 0.08118 0 0.24503 N 0.994243 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.06405 0.001;0.0;0.002;0.001 T 0.40850 -0.9541 10 0.10902 T 0.67 -1.6184 9.4332 0.38624 0.2328:0.0:0.627:0.1402 . 114;115;283;283 B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7 .;.;.;TMC2_HUMAN V 283 ENSP00000351732:M283V ENSP00000351732:M283V M + 1 0 TMC2 2520968 0.003000 0.15002 0.947000 0.38551 0.866000 0.49608 0.048000 0.14078 -0.626000 0.05596 -0.376000 0.06991 ATG NOVEL TMC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077601.2 0 5.716729 KEEP 0 0 0 19 584 AA 0.99986 0.999858 0 + 5 60 177 0 0 11.102373 113 60 4163 163 ENST00000358864.1 0.042373 0.999998 TMC2 117532 __UNKNOWN__ __UNKNOWN__ 20 2621998 2621998 __UNKNOWN__ 3'UTR SNP T T C rs6050798 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2621998T>C ENST00000358864.1 + 0 2737 NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 NA NA detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005) integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426) voltage-gated calcium channel activity (GO:0005245) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCCCACTGATGGCTAGGACT 0.572 NA C||| 2664 0.531949 0.5318 0.5346 5008 , , NA 20299 0.5585 NA 0.5109 False NA ,,, NA NA NA 2504 0.5245 NA NA NA NA 0 C 2315,2091 569.8+/-382.7 604,1107,492 38 35 36 -2.3 0 20 dbSNP_114 36 4422,4178 564.7+/-388.4 1147,2128,1025 no utr-3 TMC2 NM_080751.2 1751,3235,1517 CC,CT,TT 48.5814,47.458,48.2008 2621998 6737,6269 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF417580 CCDS13029.2 20p13 2010-08-05 2003-02-23 ENSG00000149488 ENSG00000149488 117532 16527 protein-coding gene gene with protein product 606707 transmembrane, cochlear expressed, 2 C20orf145 NA 11850618, 12906855 Standard XM_005260660 NA Approved dJ686C3.3 uc002wgf.1 Q8TDI7 OTTHUMG00000031698 ENST00000358864.1:c.*1T>C chr20.hg19:g.2621998T>C NA Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5 hg19 CCDS13029.2 0.02 8.180346 TGAxGGC COVERED NOVEL TMC2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077601.2 1 10.530003 KEEP 0 0 0 35 1077 TT 0.999999 0.999999 0 + 7 60 252 0 0 15.022892 217 60 7713 303 ENST00000358864.1 0.03125 1 NOP56 10528 __UNKNOWN__ __UNKNOWN__ 20 2634919 2634919 __UNKNOWN__ Intron SNP A A G rs73611742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:2634919A>G ENST00000329276.5 + 4 724 SNORD110_ENST00000408189.1_RNA NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein NA NA cell death (GO:0008219)|rRNA processing (GO:0006364) box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 TGATGTCTCCATGTCTCTGAG 0.532 NA A||| 16 0.00319489 0.0 0.0 5008 , , NA 20177 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 147 135 138 NA NA 20 NA 2634919 876 1991 2867 SO:0001627 intron_variant Y12065 CCDS13030.1 20p13 2012-12-10 2012-12-10 2009-01-13 ENSG00000101361 ENSG00000101361 10528 15911 protein-coding gene gene with protein product spinocerebellar ataxia 36 614154 nucleolar protein 5A (56kD with KKE/D repeat), nucleolar protein 5A (56kDa with KKE/D repeat), NOP56 ribonucleoprotein homolog (yeast) NOL5A NA 9372940, 21683323 Standard NM_006392 NR_027700 NA Approved SCA36 uc002wgh.3 O00567 OTTHUMG00000031703 ENST00000329276.5:c.209-141A>G chr20.hg19:g.2634919A>G NA Q2M3T6|Q9NQ05 hg19 CCDS13030.1 0.02 15.20525 TCCxTGT COVERED NOVEL NOP56-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077631.2 3 35.79313 KEEP 0 0 0 119 3736 AA 1 1 0 + 11 60 398 0 0 23.616687 355 60 13138 599 ENST00000329276.5 0.030055 1 SLC4A11 83959 __UNKNOWN__ __UNKNOWN__ 20 3211723 3211723 __UNKNOWN__ Intron SNP A A G rs113277027|rs374971424|rs3803954|rs113526162 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3211723A>G ENST00000380059.3 - 10 1273 SLC4A11_ENST00000380056.3_Intron|SLC4A11_ENST00000539553.2_Intron NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 NA NA bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GGGGGATGGGAGAGAGGGTTT 0.572 NA A||| 335 0.066893 0.1006 0.0043 5008 , , NA 16936 0.1349 NA 0.001 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NSCLC(190;922 2139 10266 10292 38692) NA 0 111 147 135 NA NA 20 NA 3211723 2202 4300 6502 SO:0001627 intron_variant AF336127 CCDS13052.1, CCDS54445.1, CCDS54446.1 20p13 2014-02-14 2007-08-03 ENSG00000088836 ENSG00000088836 83959 Solute carriers 16438 protein-coding gene gene with protein product 610206 corneal endothelial dystrophy 2 (autosomal recessive), solute carrier family 4, sodium bicarbonate transporter-like, member 11, corneal dystrophy and perceptive deafness 1 CHED2, CDPD1 NA 10843999, 11302728, 16767101 Standard NM_001174089 NA Approved dJ794I6.2, BTR1, NaBC1, FECD4 uc010zqe.2 Q8NBS3 OTTHUMG00000031740 ENST00000380059.3:c.1172-19T>C chr20.hg19:g.3211723A>G NA B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9 hg19 CCDS54445.1 0.02 18.538446 GGGxGAG COVERED NOVEL SLC4A11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000077727.2 2 15.344055 KEEP 0 0 0 51 1568 AA 1 1 0 - 16 60 603 0 0 38.465477 402 60 14340 562 ENST00000380059.3 0.038278 1 SLC4A11 83959 __UNKNOWN__ __UNKNOWN__ 20 3214819 3214819 __UNKNOWN__ Silent SNP T T G rs3827075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3214819T>G ENST00000380059.3 - 5 663 c.562A>C c.(562-564)Agg>Cgg p.R188R SLC4A11_ENST00000380056.3_Silent_p.R161R|SLC4A11_ENST00000539553.2_Silent_p.R145R NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 161 NA bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 TCAGGGTCCCTGGCGAAGCGG 0.642 NA G||| 2403 0.479832 0.671 0.4251 5008 , , NA 16063 0.5357 NA 0.3956 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NSCLC(190;922 2139 10266 10292 38692) NA 0 GRCh37 CX082312 SLC4A11 X rs3827075 G ,, 2838,1568 491.5+/-362.1 910,1018,275 124 118 120 433,562,481 4 0 20 dbSNP_107 120 3417,5183 639.7+/-399.5 695,2027,1578 no coding-synonymous,coding-synonymous,coding-synonymous SLC4A11 NM_001174089.1,NM_001174090.1,NM_032034.3 ,, 1605,3045,1853 GG,GT,TT 39.7326,35.5878,48.0932 ,, 145/876,188/919,161/892 3214819 6255,6751 2203 4300 6503 SO:0001819 synonymous_variant AF336127 CCDS13052.1, CCDS54445.1, CCDS54446.1 20p13 2014-02-14 2007-08-03 ENSG00000088836 ENSG00000088836 83959 Solute carriers 16438 protein-coding gene gene with protein product 610206 corneal endothelial dystrophy 2 (autosomal recessive), solute carrier family 4, sodium bicarbonate transporter-like, member 11, corneal dystrophy and perceptive deafness 1 CHED2, CDPD1 NA 10843999, 11302728, 16767101 Standard NM_001174089 NA Approved dJ794I6.2, BTR1, NaBC1, FECD4 uc010zqe.2 Q8NBS3 OTTHUMG00000031740 ENST00000380059.3:c.562A>C chr20.hg19:g.3214819T>G NA B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9 hg19 CCDS54445.1 0.02 16.272462 CCCxGGC COVERED NOVEL SLC4A11-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000077727.2 2 21.36169 KEEP 0 0 0 71 2199 TT 1 1 0 - 12 60 445 0 0 27.092417 369 60 13675 581 ENST00000380059.3 0.031496 1 SLC4A11 83959 __UNKNOWN__ __UNKNOWN__ 20 3219692 3219692 __UNKNOWN__ Intron SNP C C T rs6084314 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3219692C>T ENST00000539553.2 - 1 96 NM_001174089.1 NP_001167560.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 NA NA bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021) bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GAGACGGTGGCGGAGACCCGG 0.776 NA C||| 2061 0.411542 0.6195 0.3573 5008 , , NA 7566 0.5357 NA 0.2575 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NSCLC(190;922 2139 10266 10292 38692) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF336127 CCDS13052.1, CCDS54445.1, CCDS54446.1 20p13 2014-02-14 2007-08-03 ENSG00000088836 ENSG00000088836 83959 Solute carriers 16438 protein-coding gene gene with protein product 610206 corneal endothelial dystrophy 2 (autosomal recessive), solute carrier family 4, sodium bicarbonate transporter-like, member 11, corneal dystrophy and perceptive deafness 1 CHED2, CDPD1 NA 10843999, 11302728, 16767101 Standard NM_001174089 NA Approved dJ794I6.2, BTR1, NaBC1, FECD4 uc010zqe.2 Q8NBS3 OTTHUMG00000031740 ENST00000539553.2:c.43+48G>A chr20.hg19:g.3219692C>T NA B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9 hg19 CCDS54446.1 0.02 5.880381 TGGxGGA COVERED NOVEL SLC4A11-003 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000077729.4 1 17.151239 KEEP 0 0 0 57 1920 CC 1 1 0 - 7 60 217 0 0 12.699801 150 60 5263 271 ENST00000539553.2 0.044586 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3668082 3668082 __UNKNOWN__ 3'UTR SNP G G T rs656635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3668082G>T ENST00000344754.4 - 0 6254 SIGLEC1_ENST00000202578.4_3'UTR NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin NA NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CTCTTGTAAGGGCCAGTAAGG 0.542 NA T||| 2364 0.472045 0.4259 0.5173 5008 , , NA 17600 0.3938 NA 0.4901 False NA ,,, NA NA NA 2504 0.5644 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.*1125C>A chr20.hg19:g.3668082G>T NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 5.985404 AAGxGCC COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 1 21.943673 KEEP 0 0 0 73 2518 GG 1 1 0 - 10 60 346 0 0 22.632972 169 60 6186 315 ENST00000344754.4 0.055866 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3670061 3670061 __UNKNOWN__ Intron SNP G G A rs3746634 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3670061G>A ENST00000344754.4 - 19 4997 SIGLEC1_ENST00000202578.4_Intron NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin NA NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GAGGAAAGAAGGAAACTACAG 0.517 NA G||| 1286 0.256789 0.1165 0.3689 5008 , , NA 9684 0.2133 NA 0.326 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.4997+185C>T chr20.hg19:g.3670061G>A NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 6.953939 GAAxGAA COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 0 13.233731 KEEP 0 0 0 44 1529 GG 1 1 0 - 6 60 231 0 0 14.662649 166 60 6238 276 ENST00000344754.4 0.034884 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3671891 3671891 __UNKNOWN__ Intron SNP G G A rs3859664 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3671891G>A ENST00000344754.4 - 17 4591 SIGLEC1_ENST00000202578.4_Intron NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin NA NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 caatatccgtgaagccttcac 0.542 NA G||| 1889 0.377196 0.236 0.5 5008 , , NA 20263 0.3919 NA 0.3479 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.4591+95C>T chr20.hg19:g.3671891G>A NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 2.340366 CGTxAAG COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 2 3.611761 KEEP 0 0 0 12 419 GG 0.993634 0.957638 0 - 6 60 207 0 0 15.599413 44 60 1606 71 ENST00000344754.4 0.12 0.963774 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3675333 3675333 __UNKNOWN__ Missense_Mutation SNP G G A rs3746638 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3675333G>A ENST00000344754.4 - 11 2920 c.2921C>T c.(2920-2922)gCa>gTa p.A974V SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A974V NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 974 Ig-like C2-type 9. NA A -> V (in dbSNP:rs3746638). cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCTGATGGGTGCAGCTAGGCT 0.602 NA G||| 2929 0.584864 0.4455 0.5965 5008 , , NA 21154 0.7629 NA 0.492 False NA ,,, NA NA NA 2504 0.6769 NA NA NA NA 0 G VAL/ALA 1961,2445 552.6+/-378.6 415,1131,657 63 58 60 2921 2.6 0.2 20 dbSNP_107 60 4380,4220 582.7+/-391.4 1102,2176,1022 yes missense SIGLEC1 NM_023068.3 64 1517,3307,1679 AA,AG,GG 49.0698,44.5075,48.7544 possibly-damaging 974/1710 3675333 6341,6665 2203 4300 6503 SO:0001583 missense AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.2921C>T chr20.hg19:g.3675333G>A ENSP00000341141:p.Ala974Val NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 8.310431 GGTxCAG COVERED 1202 0.5503663003663004 201 0.40853658536585363 198 0.5469613259668509 422 0.7377622377622378 381 0.5026385224274407 G 9.663 1.144601 0.21288 0.445075 0.509302 ENSG00000088827 ENST00000344754;ENST00000202578 T;T 0.03607 3.87;3.87 4.61 2.64 0.31445 Immunoglobulin-like (1); 0.385935 0.19107 N 0.122542 T 0.00012 0.0000 M 0.66439 2.03 0.44956 P 0.0020210000000000505 B;B 0.30793 0.197;0.295 B;B 0.31547 0.114;0.132 T 0.02519 -1.1147 9 0.14252 T 0.57 . 9.0695 0.36484 0.1832:0.0:0.8168:0.0 rs3746638;rs17785898;rs52828339;rs59934214;rs3746638 974;974 Q9BZZ2;Q9BZZ2-3 SN_HUMAN;. V 974 ENSP00000341141:A974V;ENSP00000202578:A974V ENSP00000202578:A974V A - 2 0 SIGLEC1 3623333 0.922000 0.31269 0.243000 0.24186 0.288000 0.27193 1.567000 0.36407 0.566000 0.29273 0.561000 0.74099 GCA NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 1 10.534467 KEEP 0 0 0 35 1246 GG 0.999999 0.999999 0 - 15 60 517 0 0 35.435628 194 60 7089 282 ENST00000344754.4 0.07177 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3675498 3675498 __UNKNOWN__ Missense_Mutation SNP T T G rs709012 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3675498T>G ENST00000344754.4 - 11 2755 c.2756A>C c.(2755-2757)cAc>cCc p.H919P SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H919P NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 919 Ig-like C2-type 9. NA H -> P (in dbSNP:rs709012). cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GACTCCTGTGTGTACCTGGCA 0.612 NA G||| 3713 0.741414 0.7995 0.6715 5008 , , NA 19931 0.869 NA 0.5984 False NA ,,, NA NA NA 2504 0.728 NA NA NA NA 0 G PRO/HIS 3376,1030 376.1+/-321.9 1288,800,115 38 41 40 2756 4.8 0.9 20 dbSNP_86 40 5293,3307 489.3+/-372.6 1600,2093,607 yes missense SIGLEC1 NM_023068.3 77 2888,2893,722 GG,GT,TT 38.4535,23.3772,33.3461 benign 919/1710 3675498 8669,4337 2203 4300 6503 SO:0001583 missense AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.2756A>C chr20.hg19:g.3675498T>G ENSP00000341141:p.His919Pro NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 12.068791 GTGxGTA COVERED 1558 0.7133699633699634 377 0.766260162601626 227 0.6270718232044199 488 0.8531468531468531 466 0.6147757255936676 G 3.313 -0.140367 0.06669 0.766228 0.615465 ENSG00000088827 ENST00000344754;ENST00000202578 T;T 0.10960 2.82;2.82 4.79 4.79 0.61399 Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.39274 N 0.001419 T 0.00012 0.0000 N 0.01289 -0.905 0.58432 P 9.99999999995449E-6 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.31752 -0.9932 9 0.02654 T 1 . 12.3356 0.55065 0.0:0.0:0.8296:0.1704 rs709012;rs3746639;rs17723964;rs58432318;rs709012 919;919 Q9BZZ2;Q9BZZ2-3 SN_HUMAN;. P 919 ENSP00000341141:H919P;ENSP00000202578:H919P ENSP00000202578:H919P H - 2 0 SIGLEC1 3623498 0.985000 0.35326 0.930000 0.37139 0.908000 0.53690 3.709000 0.54853 1.269000 0.44280 -0.121000 0.15023 CAC NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 0 12.573401 KEEP 0 1 38 55 1724 TT 1 1 0 - 16 60 602 0 0 41.466618 254 60 9256 407 ENST00000344754.4 0.059259 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3678767 3678767 __UNKNOWN__ Silent SNP T T C rs185985671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3678767T>C ENST00000344754.4 - 8 1799 c.1800A>G c.(1798-1800)caA>caG p.Q600Q SIGLEC1_ENST00000202578.4_Silent_p.Q600Q NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 600 NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGAATGTTGGTTGTCGAGGGG 0.652 NA T||| 13 0.00259585 0.0 0.0 5008 , , NA 18879 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 7 9 8 NA NA 20 NA 3678767 2111 4175 6286 SO:0001819 synonymous_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.1800A>G chr20.hg19:g.3678767T>C NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 2.434669 TGGxTGT COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 1 3.911506 KEEP 0 0 0 13 404 TT 0.994391 0.986529 0 - 4 60 154 0 0 10.868561 58 60 2038 94 ENST00000344754.4 0.064516 0.992094 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3682011 3682011 __UNKNOWN__ Silent SNP G G A rs1018493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3682011G>A ENST00000344754.4 - 6 1505 c.1506C>T c.(1504-1506)tcC>tcT p.S502S SIGLEC1_ENST00000202578.4_Silent_p.S502S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 502 Ig-like C2-type 4. NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) p.S502S(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGTCCAGGGTGGAGGTTGCAT 0.582 NA G||| 3585 0.715855 0.7806 0.6758 5008 , , NA 19765 0.7619 NA 0.5795 False NA ,,, NA NA NA 2504 0.7495 NA NA NA NA 1 Substitution - coding silent(1) haematopoietic_and_lymphoid_tissue(1) G 3281,1125 715.2+/-408.4 1210,861,132 72 58 63 1506 2.6 0.8 20 dbSNP_86 63 5127,3473 634.3+/-398.8 1503,2121,676 no coding-synonymous SIGLEC1 NM_023068.3 2713,2982,808 AA,AG,GG 40.3837,25.5334,35.3529 502/1710 3682011 8408,4598 2203 4300 6503 SO:0001819 synonymous_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.1506C>T chr20.hg19:g.3682011G>A NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 6.811514 GGTxGAG COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 1 6.620976 KEEP 0 0 0 22 769 GG 0.999879 0.999879 0 - 12 60 370 0 0 24.149204 165 60 6118 244 ENST00000344754.4 0.067797 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3682149 3682149 __UNKNOWN__ Silent SNP G G A rs13037869 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3682149G>A ENST00000344754.4 - 6 1367 c.1368C>T c.(1366-1368)tcC>tcT p.S456S SIGLEC1_ENST00000202578.4_Silent_p.S456S NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 456 Ig-like C2-type 4. NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CACTGTCCCCGGAGGTGGAGG 0.617 NA G||| 1384 0.276358 0.1051 0.3804 5008 , , NA 20780 0.2123 NA 0.3529 False NA ,,, NA NA NA 2504 0.4213 NA NA NA NA 0 G 609,3797 266.8+/-267.5 51,507,1645 93 72 79 1368 -11.4 0 20 dbSNP_121 79 3174,5426 481.3+/-370.6 591,1992,1717 no coding-synonymous SIGLEC1 NM_023068.3 642,2499,3362 AA,AG,GG 36.907,13.8221,29.0866 456/1710 3682149 3783,9223 2203 4300 6503 SO:0001819 synonymous_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.1368C>T chr20.hg19:g.3682149G>A NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 11.035313 CCCxGAG COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 0 11.435469 KEEP 0 0 0 38 1316 GG 1 1 0 - 8 60 306 0 0 18.722556 266 60 9550 391 ENST00000344754.4 0.029197 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3684022 3684022 __UNKNOWN__ Silent SNP A A G rs611847 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3684022A>G ENST00000344754.4 - 5 1049 c.1050T>C c.(1048-1050)aaT>aaC p.N350N SIGLEC1_ENST00000202578.4_Silent_p.N350N NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 350 Ig-like C2-type 3. NA cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGGGTGCCTCATTGGGTGTGT 0.597 NA G||| 3089 0.616813 0.5893 0.572 5008 , , NA 19949 0.6815 NA 0.6292 False NA ,,, NA NA NA 2504 0.6063 NA NA NA NA 0 G 2503,1903 543.9+/-376.4 730,1043,430 136 103 114 1050 -8.6 0 20 dbSNP_83 114 5550,3050 469.0+/-367.5 1765,2020,515 no coding-synonymous SIGLEC1 NM_023068.3 2495,3063,945 GG,GA,AA 35.4651,43.1911,38.0824 350/1710 3684022 8053,4953 2203 4300 6503 SO:0001819 synonymous_variant AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.1050T>C chr20.hg19:g.3684022A>G NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 13.519207 CTCxTTG COVERED NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 3 14.442673 KEEP 0 0 0 48 1482 AA 1 1 0 - 18 60 679 0 0 46.404658 302 60 11016 452 ENST00000344754.4 0.05625 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3684729 3684729 __UNKNOWN__ Missense_Mutation SNP T T C rs625372 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3684729T>C ENST00000344754.4 - 4 715 c.716A>G c.(715-717)aAg>aGg p.K239R SIGLEC1_ENST00000202578.4_Missense_Mutation_p.K239R NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 239 Ig-like C2-type 2. NA K -> R (in dbSNP:rs625372). cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CTTCACACCCTTGGGGGCATC 0.577 NA T||| 3067 0.61242 0.5787 0.572 5008 , , NA 21346 0.6766 NA 0.6302 False NA ,,, NA NA NA 2504 0.6022 NA NA NA NA 0 T ARG/LYS 2472,1934 612.6+/-392.0 716,1040,447 58 57 57 716 -3.2 0.1 20 dbSNP_83 57 5542,3058 649.5+/-400.6 1764,2014,522 yes missense SIGLEC1 NM_023068.3 26 2480,3054,969 CC,CT,TT 35.5581,43.8947,38.3823 benign 239/1710 3684729 8014,4992 2203 4300 6503 SO:0001583 missense AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.716A>G chr20.hg19:g.3684729T>C ENSP00000341141:p.Lys239Arg NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 7.193952 CCCxTGG COVERED 1345 0.6158424908424909 273 0.5548780487804879 210 0.580110497237569 380 0.6643356643356644 482 0.6358839050131926 T 10.10 1.257156 0.22965 0.561053 0.644419 ENSG00000088827 ENST00000344754;ENST00000202578 T;T 0.15256 2.44;2.44 5.16 -3.18 0.05186 Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.507378 0.15010 N 0.285619 T 0.00012 0.0000 L 0.42487 1.325 0.54753 P 1.7000000000044757E-5 B;B;B 0.21520 0.033;0.034;0.057 B;B;B 0.24006 0.034;0.022;0.05 T 0.32929 -0.9888 9 0.18276 T 0.48 . 11.6858 0.51485 0.0:0.4844:0.0:0.5156 rs625372;rs735293;rs3803960;rs58510626;rs625372 239;239;239 Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3 .;SN_HUMAN;. R 239 ENSP00000341141:K239R;ENSP00000202578:K239R ENSP00000202578:K239R K - 2 0 SIGLEC1 3632729 0.010000 0.17322 0.112000 0.21494 0.877000 0.50540 -0.016000 0.12613 -0.567000 0.06046 -0.408000 0.06270 AAG NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 1 3.610288 KEEP 0 0 0 12 368 TT 0.993634 0.993634 0 - 10 60 378 0 0 26.443195 146 60 5172 170 ENST00000344754.4 0.064103 1 SIGLEC1 6614 __UNKNOWN__ __UNKNOWN__ 20 3686436 3686436 __UNKNOWN__ Missense_Mutation SNP C C T rs6037651 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3686436C>T ENST00000344754.4 - 3 660 c.661G>A c.(661-663)Gtg>Atg p.V221M SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V221M NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 221 Ig-like C2-type 1. NA V -> M (in dbSNP:rs6037651). cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 TGATTGGCCACGGAGAGCTGG 0.622 NA C||| 3460 0.690895 0.7375 0.5865 5008 , , NA 19266 0.747 NA 0.5726 False NA ,,, NA NA NA 2504 0.7658 NA NA NA NA 0 C MET/VAL 3143,1263 701.3+/-406.7 1105,933,165 66 68 67 661 0.3 0 20 dbSNP_114 67 5108,3492 633.3+/-398.7 1498,2112,690 yes missense SIGLEC1 NM_023068.3 21 2603,3045,855 TT,TC,CC 40.6047,28.6655,36.56 benign 221/1710 3686436 8251,4755 2203 4300 6503 SO:0001583 missense AF230073 CCDS13060.1 20p13 2013-01-29 2006-01-19 2006-01-19 ENSG00000088827 ENSG00000088827 6614 CD molecules, Sialic acid binding Ig-like lectins, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 11127 protein-coding gene gene with protein product 600751 sialoadhesin SN NA 8530048 Standard NM_023068 XM_006723610 NA Approved SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin uc002wja.3 Q9BZZ2 OTTHUMG00000031757 ENST00000344754.4:c.661G>A chr20.hg19:g.3686436C>T ENSP00000341141:p.Val221Met NA Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7 hg19 CCDS13060.1 0.02 11.142144 CCAxGGA COVERED 1435 0.657051282051282 385 0.782520325203252 199 0.5497237569060773 409 0.715034965034965 442 0.58311345646438 C 8.586 0.883473 0.17467 0.713345 0.593953 ENSG00000088827 ENST00000344754;ENST00000202578 D;D 0.86230 -2.09;-2.09 4.68 0.33 0.15929 CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.457645 0.16266 N 0.222010 T 0.00012 0.0000 N 0.16478 0.41 0.80722 P 0.0 B;B;B 0.27971 0.076;0.196;0.163 B;B;B 0.28139 0.03;0.086;0.051 T 0.38351 -0.9665 9 0.33940 T 0.23 . 4.3209 0.11016 0.1498:0.4923:0.2731:0.0848 rs6037651;rs17724439;rs60531979;rs6037651 221;221;221 Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3 .;SN_HUMAN;. M 221 ENSP00000341141:V221M;ENSP00000202578:V221M ENSP00000202578:V221M V - 1 0 SIGLEC1 3634436 0.000000 0.05858 0.003000 0.11579 0.025000 0.11179 -0.625000 0.05534 -0.069000 0.12931 -0.448000 0.05591 GTG NOVEL SIGLEC1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077761.2 1 17.756164 KEEP 0 0 0 59 2022 CC 1 1 0 - 17 60 636 0 0 43.460814 279 60 9864 424 ENST00000344754.4 0.057432 1 SPEF1 25876 __UNKNOWN__ __UNKNOWN__ 20 3759200 3759200 __UNKNOWN__ Intron SNP G G A rs2281477 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3759200G>A ENST00000379756.3 - 6 640 SPEF1_ENST00000463490.1_5'UTR NM_015417.4 NP_056232.2 Q9Y4P9 SPEF1_HUMAN sperm flagellar 1 NA NA axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 AGCTGGGGTGGGAAGCAGCTT 0.677 NA G||| 2589 0.516973 0.4576 0.572 5008 , , NA 14618 0.631 NA 0.5249 False NA ,,, NA NA NA 2504 0.4325 NA NA NA NA 0 G 1884,1906 456,972,467 12 15 14 -0.8 1 20 dbSNP_100 14 4489,3745 1224,2041,852 no intron SPEF1 NM_015417.4 1680,3013,1319 AA,AG,GG 45.4821,49.7098,46.9977 3759200 6373,5651 1895 4117 6012 SO:0001627 intron_variant AL080154 CCDS13063.2 20p13 2013-09-23 2007-08-20 2007-08-20 ENSG00000101222 ENSG00000101222 25876 15874 protein-coding gene gene with protein product 610674 chromosome 20 open reading frame 28 C20orf28 NA 15979255 Standard NM_015417 NA Approved DKFZP434I114, SPEF1A uc002wjj.3 Q9Y4P9 OTTHUMG00000031756 ENST00000379756.3:c.480-9C>T chr20.hg19:g.3759200G>A NA A5YM71|D3DVY0|Q5JX78 hg19 CCDS13063.2 0.02 1.898253 GTGxGAA COVERED NOVEL SPEF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077760.2 2 15.045009 KEEP 0 0 0 50 1661 GG 1 0.999835 0 - 4 60 144 0 0 9.205612 86 60 3058 155 ENST00000379756.3 0.044444 0.999835 MAVS 57506 __UNKNOWN__ __UNKNOWN__ 20 3842984 3842984 __UNKNOWN__ Silent SNP C C T rs2326369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3842984C>T ENST00000428216.2 + 5 677 c.549C>T c.(547-549)gaC>gaT p.D183D MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.D42D NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 183 NA activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778) CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 CCTCCTCTGACCTGGCAGCCC 0.572 NA C||| 733 0.146366 0.2156 0.0922 5008 , , NA 18189 0.247 NA 0.0507 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 C , 832,3574 330.2+/-301.4 86,660,1457 57 56 56 126,549 2.2 0.1 20 dbSNP_100 56 496,8104 143.3+/-199.3 11,474,3815 no coding-synonymous,coding-synonymous MAVS NM_001206491.1,NM_020746.4 , 97,1134,5272 TT,TC,CC 5.7674,18.8833,10.2107 , 42/400,183/541 3842984 1328,11678 2203 4300 6503 SO:0001819 synonymous_variant DQ174270 CCDS33437.1, CCDS56176.1 20p13 2009-04-02 ENSG00000088888 ENSG00000088888 57506 29233 protein-coding gene gene with protein product virus-induced signaling adaptor, IFN-B promoter stimulator 1, CARD adaptor inducing IFN-beta 609676 NA 16125763, 16153868 Standard NM_020746 NM_020746 NA Approved VISA, KIAA1271, IPS-1, Cardif uc002wjw.4 Q7Z434 OTTHUMG00000031765 ENST00000428216.2:c.549C>T chr20.hg19:g.3842984C>T NA A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9 hg19 CCDS33437.1 0.02 6.223237 TGAxCTG COVERED NOVEL MAVS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077784.3 1 15.350045 KEEP 0 0 0 51 1831 CC 1 1 0 + 9 60 321 0 0 20.729676 178 60 6619 294 ENST00000428216.2 0.048128 1 MAVS 57506 __UNKNOWN__ __UNKNOWN__ 20 3847142 3847142 __UNKNOWN__ 3'UTR SNP G G C rs3746661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:3847142G>C ENST00000428216.2 + 0 2099 NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein NA NA activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032) integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778) CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871) autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GAGCAGGAGGGACCACTGGAA 0.592 NA G||| 628 0.125399 0.146 0.085 5008 , , NA 21175 0.251 NA 0.0408 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant DQ174270 CCDS33437.1, CCDS56176.1 20p13 2009-04-02 ENSG00000088888 ENSG00000088888 57506 29233 protein-coding gene gene with protein product virus-induced signaling adaptor, IFN-B promoter stimulator 1, CARD adaptor inducing IFN-beta 609676 NA 16125763, 16153868 Standard NM_020746 NM_020746 NA Approved VISA, KIAA1271, IPS-1, Cardif uc002wjw.4 Q7Z434 OTTHUMG00000031765 ENST00000428216.2:c.*348G>C chr20.hg19:g.3847142G>C NA A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9 hg19 CCDS33437.1 0.02 12.266927 AGGxACC COVERED NOVEL MAVS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077784.3 2 13.845213 KEEP 0 0 0 46 1634 GG 1 1 0 + 17 60 657 0 0 45.636344 276 60 10244 396 ENST00000428216.2 0.05802 1 SMOX 54498 __UNKNOWN__ __UNKNOWN__ 20 4155648 4155648 __UNKNOWN__ Intron SNP C C T rs2295482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:4155648C>T ENST00000305958.4 + 2 199 SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000484515.1_Intron|SMOX_ENST00000339123.6_Intron NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GGCAGAGCCACTAAGCTGTGA 0.592 NA C||| 1460 0.291534 0.4009 0.1816 5008 , , NA 19377 0.3442 NA 0.1282 False NA ,,, NA NA NA 2504 0.3354 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000753 CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1 20p13 2003-10-15 2003-10-15 2003-10-15 ENSG00000088826 ENSG00000088826 54498 15862 protein-coding gene gene with protein product 615854 chromosome 20 open reading frame 16 C20orf16 NA 11454677, 12398765 Standard NM_175842 NM_175839 NA Approved FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO uc002wkp.3 Q9NWM0 OTTHUMG00000031777 ENST00000305958.4:c.-26-29C>T chr20.hg19:g.4155648C>T NA A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2 hg19 CCDS13075.1 0.02 11.275707 CCAxTAA COVERED NOVEL SMOX-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077806.1 3 20.165571 KEEP 0 0 0 67 2393 CC 1 1 0 + 12 60 442 0 0 28.857575 246 60 9266 421 ENST00000305958.4 0.046512 1 SMOX 54498 __UNKNOWN__ __UNKNOWN__ 20 4155935 4155935 __UNKNOWN__ Intron SNP G G T rs2295484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:4155935G>T ENST00000305958.4 + 2 433 SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000379460.2_Intron|SMOX_ENST00000484515.1_Intron|SMOX_ENST00000339123.6_Intron NM_175839.2 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase NA NA cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GTCCAGCCCAGCCACCTCCCC 0.527 NA G||| 2180 0.435304 0.6437 0.2983 5008 , , NA 19875 0.4345 NA 0.2326 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 G ,,, 2538,1868 630.1+/-395.4 736,1066,401 38 35 36 ,,, 3.1 0 20 dbSNP_100 36 2006,6594 350.5+/-327.9 249,1508,2543 no intron,intron,intron,intron SMOX NM_175839.1,NM_175840.1,NM_175841.1,NM_175842.1 ,,, 985,2574,2944 TT,TG,GG 23.3256,42.3967,34.9377 ,,, ,,, 4155935 4544,8462 2203 4300 6503 SO:0001627 intron_variant AK000753 CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1 20p13 2003-10-15 2003-10-15 2003-10-15 ENSG00000088826 ENSG00000088826 54498 15862 protein-coding gene gene with protein product 615854 chromosome 20 open reading frame 16 C20orf16 NA 11454677, 12398765 Standard NM_175842 NM_175839 NA Approved FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO uc002wkp.3 Q9NWM0 OTTHUMG00000031777 ENST00000305958.4:c.208+25G>T chr20.hg19:g.4155935G>T NA A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2 hg19 CCDS13075.1 0.02 10.498474 CCAxCCA COVERED NOVEL SMOX-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077806.1 2 16.554026 KEEP 0 0 0 55 1980 GG 1 1 0 + 15 60 513 0 0 33.618828 252 60 9582 397 ENST00000305958.4 0.05618 1 PRND 23627 __UNKNOWN__ __UNKNOWN__ 20 4708979 4708979 __UNKNOWN__ 3'UTR SNP T T C rs12625115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:4708979T>C ENST00000305817.2 + 0 3853 NM_012409.2 NP_036541.2 Q9UKY0 PRND_HUMAN prion protein 2 (dublet) NA NA protein homooligomerization (GO:0051260) anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886) breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 13 ctcattcttttggattgctac 0.353 NA T||| 952 0.190096 0.1195 0.2133 5008 , , NA 19673 0.2808 NA 0.2207 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF106918 CCDS13081.1 20p13 2013-09-19 ENSG00000171864 ENSG00000171864 23627 15748 protein-coding gene gene with protein product prion-like protein doppel 604263 NA 10525406, 10577243 Standard NM_012409 NM_012409 NA Approved DPL, dJ1068H6.4, DOPPEL, PrPLP uc002wkz.3 Q9UKY0 OTTHUMG00000031789 ENST00000305817.2:c.*3251T>C chr20.hg19:g.4708979T>C NA A7U7M5|Q9H311|Q9H312|Q9NTM4 hg19 CCDS13081.1 0.02 4.182897 TTTxGGA COVERED NOVEL PRND-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077827.2 0 9.025646 KEEP 0 0 0 30 916 TT 0.999997 0.99997 0 + 5 60 176 0 0 11.328068 97 60 3504 153 ENST00000305817.2 0.04902 0.999973 PRNT 149830 __UNKNOWN__ __UNKNOWN__ 20 4712711 4712711 __UNKNOWN__ 3'UTR SNP T T C rs35672533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:4712711T>C ENST00000326539.2 - 0 1549 PRNT_ENST00000418528.1_3'UTR|PRNT_ENST00000423718.2_3'UTR Q86SH4 PRNT_HUMAN prion protein (testis specific) NA NA extracellular region (GO:0005576) endometrium(2)|lung(5) 7 ccacactcactgaatgtggag 0.398 NA T||| 1171 0.233826 0.2073 0.2003 5008 , , NA 22247 0.1627 NA 0.2594 False NA ,,, NA NA NA 2504 0.3405 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL137296, AJ427539 20p13 2013-04-02 ENSG00000180259 ENSG00000180259 149830 18046 other unknown M8 protein NA 12514748 Standard NM_177549 NR_024267 NA Approved M8 uc010zqq.2 Q86SH4 OTTHUMG00000031785 ENST00000326539.2:c.*327A>G chr20.hg19:g.4712711T>C NA B2RPD9|B7ZBI9 hg19 0.02 3.461246 CACxGAA COVERED NOVEL PRNT-002 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000253006.2 1 6.018145 KEEP 0 0 0 20 628 TT 0.999863 0.999863 0 - 6 60 205 0 0 12.430053 144 60 5366 192 ENST00000326539.2 0.04 1 CDS2 8760 __UNKNOWN__ __UNKNOWN__ 20 5163828 5163828 __UNKNOWN__ Intron SNP A A G rs6053181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5163828A>G ENST00000460006.1 + 7 978 CDS2_ENST00000379062.4_Intron|CDS2_ENST00000379070.3_Intron|CDS2_ENST00000535100.1_Intron NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) phosphatidate cytidylyltransferase activity (GO:0004605) cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 TTATTTTGTGAGTGTTTCTCG 0.443 NA G||| 306 0.0611022 0.0772 0.0288 5008 , , NA 17908 0.0774 NA 0.0109 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 G 304,4102 789.0+/-415.0 8,288,1907 154 138 143 -0.2 0 20 dbSNP_114 143 127,8473 807.8+/-407.2 2,123,4175 no intron CDS2 NM_003818.3 10,411,6082 GG,GA,AA 1.4767,6.8997,3.3139 5163828 431,12575 2203 4300 6503 SO:0001627 intron_variant AF069532 CCDS13088.1 20p13 2006-03-28 ENSG00000101290 ENSG00000101290 8760 2.7.7.41 1801 protein-coding gene gene with protein product 603549 NA 9806839, 9889000 Standard NM_003818 NA Approved uc002wls.3 O95674 OTTHUMG00000031801 ENST00000460006.1:c.671+39A>G chr20.hg19:g.5163828A>G NA B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2 hg19 CCDS13088.1 0.02 18.796486 GTGxGTG COVERED NOVEL CDS2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077858.2 2 38.799411 KEEP 0 0 0 129 4159 AA 1 1 0 + 12 60 452 1 0 27.403326 398 60 14652 666 ENST00000460006.1 0.029268 1 CDS2 8760 __UNKNOWN__ __UNKNOWN__ 20 5166418 5166418 __UNKNOWN__ Silent SNP G G A rs3818196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5166418G>A ENST00000460006.1 + 9 1081 c.774G>A c.(772-774)aaG>aaA p.K258K CDS2_ENST00000379062.4_Silent_p.K138K|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Silent_p.K79K NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 258 NA CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743) phosphatidate cytidylyltransferase activity (GO:0004605) cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CCCCGAAGAAGACCTGGGAAG 0.483 NA G||| 251 0.0501198 0.0408 0.0274 5008 , , NA 20392 0.0774 NA 0.0109 False NA ,,, NA NA NA 2504 0.091 NA NA NA NA 0 G 163,4243 109.5+/-147.8 1,161,2041 141 118 126 774 4.9 1 20 dbSNP_107 126 126,8474 64.9+/-127.2 2,122,4176 no coding-synonymous CDS2 NM_003818.3 3,283,6217 AA,AG,GG 1.4651,3.6995,2.2221 258/446 5166418 289,12717 2203 4300 6503 SO:0001819 synonymous_variant AF069532 CCDS13088.1 20p13 2006-03-28 ENSG00000101290 ENSG00000101290 8760 2.7.7.41 1801 protein-coding gene gene with protein product 603549 NA 9806839, 9889000 Standard NM_003818 NA Approved uc002wls.3 O95674 OTTHUMG00000031801 ENST00000460006.1:c.774G>A chr20.hg19:g.5166418G>A NA B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2 hg19 CCDS13088.1 0.02 7.63098 GAAxACC COVERED NOVEL CDS2-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077858.2 2 19.864177 KEEP 0 0 0 66 2322 GG 1 1 0 + 8 60 282 0 0 16.765466 234 60 8820 396 ENST00000460006.1 0.033058 1 PROKR2 128674 __UNKNOWN__ __UNKNOWN__ 20 5282719 5282719 __UNKNOWN__ Silent SNP G G T rs76469093 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5282719G>T ENST00000217270.3 - 2 1121 c.1122C>A c.(1120-1122)acC>acA p.T374T PROKR2_ENST00000546004.1_Silent_p.T374T NM_144773.2 NP_658986.1 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 374 NA circadian rhythm (GO:0007623) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide Y receptor activity (GO:0004983) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CCTCTTCTGTGGTGGGCACCC 0.547 NA HNSCC(71;0.22) G||| 61 0.0121805 0.0 0.0 5008 , , NA 23216 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G 0,4406 0,0,2203 129 111 118 1122 4 0.9 20 dbSNP_132 118 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous PROKR2 NM_144773.2 0,1,6502 TT,TG,GG 0.0116,0.0,0.0077 374/385 5282719 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AL121755 CCDS13089.1 20p12.3 2012-08-08 2006-02-15 2006-02-15 ENSG00000101292 ENSG00000101292 128674 GPCR / Class A : Prokineticin receptors 15836 protein-coding gene gene with protein product 607123 G protein-coupled receptor 73-like 1, Kallmann syndrome 3 (autosomal dominant) GPR73L1, KAL3 NA 11886876, 17054399 Standard NM_144773 NM_144773 NA Approved GPR73b, PKR2, GPRg2, dJ680N4.3 uc010zqw.2 Q8NFJ6 OTTHUMG00000031800 ENST00000217270.3:c.1122C>A chr20.hg19:g.5282719G>T NA A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0 hg19 CCDS13089.1 0.02 23.469749 TGTxGTG COVERED NOVEL PROKR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077854.1 2 14.145894 KEEP 0 0 0 47 1666 GG 1 1 0 - 18 60 604 0 0 34.747847 575 60 21690 774 ENST00000217270.3 0.030354 1 PROKR2 128674 __UNKNOWN__ __UNKNOWN__ 20 5282731 5282731 __UNKNOWN__ Silent SNP G G A rs76049287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5282731G>A ENST00000217270.3 - 2 1109 c.1110C>T c.(1108-1110)aaC>aaT p.N370N PROKR2_ENST00000546004.1_Silent_p.N370N NM_144773.2 NP_658986.1 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 370 NA circadian rhythm (GO:0007623) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide Y receptor activity (GO:0004983) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 TGGGCACCCCGTTGGTTCTGA 0.547 NA HNSCC(71;0.22) G||| 62 0.0123802 0.0 0.0 5008 , , NA 23306 0.0288 NA 0.0 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 G 0,4406 0,0,2203 145 122 130 1110 -0.3 0.2 20 dbSNP_132 130 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous PROKR2 NM_144773.2 0,1,6502 AA,AG,GG 0.0116,0.0,0.0077 370/385 5282731 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AL121755 CCDS13089.1 20p12.3 2012-08-08 2006-02-15 2006-02-15 ENSG00000101292 ENSG00000101292 128674 GPCR / Class A : Prokineticin receptors 15836 protein-coding gene gene with protein product 607123 G protein-coupled receptor 73-like 1, Kallmann syndrome 3 (autosomal dominant) GPR73L1, KAL3 NA 11886876, 17054399 Standard NM_144773 NM_144773 NA Approved GPR73b, PKR2, GPRg2, dJ680N4.3 uc010zqw.2 Q8NFJ6 OTTHUMG00000031800 ENST00000217270.3:c.1110C>T chr20.hg19:g.5282731G>A NA A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0 hg19 CCDS13089.1 0.02 23.113406 CCCxTTG COVERED NOVEL PROKR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077854.1 2 13.844699 KEEP 0 0 0 46 1619 GG 1 1 0 - 15 60 555 0 0 32.34857 573 60 20345 758 ENST00000217270.3 0.02551 1 PROKR2 128674 __UNKNOWN__ __UNKNOWN__ 20 5294865 5294865 __UNKNOWN__ Missense_Mutation SNP C C T rs144994507 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5294865C>T ENST00000217270.3 - 1 150 c.151G>A c.(151-153)Gca>Aca p.A51T PROKR2_ENST00000546004.1_Missense_Mutation_p.A51T NM_144773.2 NP_658986.1 Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 51 NA circadian rhythm (GO:0007623) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide Y receptor activity (GO:0004983) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ATCTTGGCTGCGAAGAAGGTC 0.512 NA HNSCC(71;0.22) C||| 34 0.00678914 0.0 0.0 5008 , , NA 24116 0.0278 NA 0.005 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C THR/ALA 0,4406 0,0,2203 150 126 134 151 4.6 1 20 dbSNP_134 134 10,8590 7.7+/-29.5 0,10,4290 yes missense PROKR2 NM_144773.2 58 0,10,6493 TT,TC,CC 0.1163,0.0,0.0769 benign 51/385 5294865 10,12996 2203 4300 6503 SO:0001583 missense AL121755 CCDS13089.1 20p12.3 2012-08-08 2006-02-15 2006-02-15 ENSG00000101292 ENSG00000101292 128674 GPCR / Class A : Prokineticin receptors 15836 protein-coding gene gene with protein product 607123 G protein-coupled receptor 73-like 1, Kallmann syndrome 3 (autosomal dominant) GPR73L1, KAL3 NA 11886876, 17054399 Standard NM_144773 NM_144773 NA Approved GPR73b, PKR2, GPRg2, dJ680N4.3 uc010zqw.2 Q8NFJ6 OTTHUMG00000031800 ENST00000217270.3:c.151G>A chr20.hg19:g.5294865C>T ENSP00000217270:p.Ala51Thr NA A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0 hg19 CCDS13089.1 0.02 8.295669 CTGxGAA COVERED 12 0.005494505494505495 0 0.0 0 0.0 7 0.012237762237762238 5 0.006596306068601583 C 14.63 2.593782 0.46214 0.0 0.001163 ENSG00000101292 ENST00000546004;ENST00000217270 T;T 0.37235 1.21;1.21 4.6 4.6 0.57074 . 0.117461 0.56097 D 0.000021 T 0.29321 0.0730 M 0.71581 2.175 0.41667 D 0.989211 B 0.18310 0.027 B 0.14578 0.011 T 0.20273 -1.0280 10 0.16420 T 0.52 . 15.2898 0.73857 0.0:1.0:0.0:0.0 . 51 Q8NFJ6 PKR2_HUMAN T 51 ENSP00000440790:A51T;ENSP00000217270:A51T ENSP00000217270:A51T A - 1 0 PROKR2 5242865 0.946000 0.32159 0.990000 0.47175 0.887000 0.51463 2.116000 0.41930 2.269000 0.75478 0.655000 0.94253 GCA NOVEL PROKR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077854.1 3 4.815343 KEEP 0 0 0 16 542 CC 0.997832 0.997832 0 - 10 60 363 0 0 22.924001 236 60 8036 307 ENST00000217270.3 0.04065 1 GPCPD1 56261 __UNKNOWN__ __UNKNOWN__ 20 5528518 5528518 __UNKNOWN__ Intron SNP A A G rs3747910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5528518A>G ENST00000379019.4 - 20 2042 GPCPD1_ENST00000481038.1_Intron NM_019593.3 NP_062539.1 Q9NPB8 GPCP1_HUMAN glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) NA NA glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737) glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1) 16 CAAATACAAAACACATAAAAT 0.373 NA .||| 1065 0.21266 0.2474 0.1859 5008 , , NA 19614 0.2361 NA 0.2147 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 A 1076,3330 359.6+/-314.9 126,824,1253 71 75 73 2.4 1 20 dbSNP_107 73 1706,6894 282.9+/-295.8 161,1384,2755 no intron GPCPD1 NM_019593.3 287,2208,4008 GG,GA,AA 19.8372,24.4212,21.3901 5528518 2782,10224 2203 4300 6503 SO:0001627 intron_variant CCDS13090.1 20p12.3 2011-01-25 ENSG00000125772 ENSG00000125772 56261 26957 protein-coding gene gene with protein product 614124 NA 10718198, 20576599 Standard NM_019593 NM_019593 NA Approved KIAA1434, GDE5, GDPD6 uc002wme.4 Q9NPB8 OTTHUMG00000031806 ENST00000379019.4:c.1830-22T>C chr20.hg19:g.5528518A>G NA D3DW06|Q9BQL8|Q9NUX0 hg19 CCDS13090.1 0.02 6.472103 AAAxCAC COVERED NOVEL GPCPD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077869.1 2 8.123148 KEEP 0 0 0 27 816 AA 0.999988 0.999988 0 - 9 60 338 0 0 22.808874 161 60 5711 223 ENST00000379019.4 0.052941 1 C20orf196 149840 __UNKNOWN__ __UNKNOWN__ 20 5844122 5844122 __UNKNOWN__ 3'UTR SNP A A G rs386812125|rs1777353 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:5844122A>G ENST00000303142.6 + 0 718 NM_152504.2 NP_689717.2 Q8IYI0 CT196_HUMAN chromosome 20 open reading frame 196 NA NA endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1) 9 GGTGCCGGGCAGTGTGCAGGG 0.517 NA G||| 2353 0.469848 0.6256 0.4957 5008 , , NA 20264 0.4841 NA 0.33 False NA ,,, NA NA NA 2504 0.3701 NA NA NA NA 0 G 2344,2058 683,978,540 55 54 54 -7.8 0 20 dbSNP_89 54 2599,5997 484,1631,2183 no utr-3 C20orf196 NM_152504.2 1167,2609,2723 GG,GA,AA 30.235,46.7515,38.0289 5844122 4943,8055 2201 4298 6499 SO:0001624 3_prime_UTR_variant AK057796 CCDS13091.1 20p12.3 2006-07-07 ENSG00000171984 ENSG00000171984 149840 26318 protein-coding gene gene with protein product NA 12477932 Standard NM_152504 NM_152504 NA Approved FLJ25067 uc002wmf.3 Q8IYI0 OTTHUMG00000031813 ENST00000303142.6:c.*13A>G chr20.hg19:g.5844122A>G NA A8K9J3|Q5TGA9|Q96LU1 hg19 CCDS13091.1 0.02 13.090257 GGCxGTG COVERED NOVEL C20orf196-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077882.2 3 11.238149 KEEP 0 3 105 74 2306 AA 1 1 0 + 12 60 433 0 0 26.947915 300 60 11247 480 ENST00000303142.6 0.038462 1 LRRN4 164312 __UNKNOWN__ __UNKNOWN__ 20 6033025 6033025 __UNKNOWN__ Missense_Mutation SNP T T C rs1884643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:6033025T>C ENST00000378858.4 - 2 645 c.421A>G c.(421-423)Acc>Gcc p.T141A NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 141 NA T -> A (in dbSNP:rs1884643). long-term memory (GO:0007616)|visual learning (GO:0008542) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 GCGGGCCCGGTGCACGGCGGC 0.776 NA C||| 1964 0.392173 0.5257 0.4265 5008 , , NA 11757 0.4306 NA 0.2495 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 C ALA/THR 561,1475 45,471,502 2 2 2 421 -5.9 0 20 dbSNP_92 2 909,4281 72,765,1758 no missense LRRN4 NM_152611.3 58 117,1236,2260 CC,CT,TT 17.5145,27.554,20.3432 benign 141/741 6033025 1470,5756 1018 2595 3613 SO:0001583 missense AL118505 CCDS13097.1 20p12.3 2013-02-11 2008-05-20 2008-05-20 ENSG00000125872 ENSG00000125872 164312 Fibronectin type III domain containing 16208 protein-coding gene gene with protein product chromosome 20 open reading frame 75 C20orf75 NA 15870286 Standard NM_152611 NM_152611 NA Approved dJ1056H1.1, NLRR4 uc002wmo.3 Q8WUT4 OTTHUMG00000031825 ENST00000378858.4:c.421A>G chr20.hg19:g.6033025T>C ENSP00000368135:p.Thr141Ala NA A8K258|Q5JWV6|Q9H419 hg19 CCDS13097.1 0.02 1.890619 CGGxGCA COVERED 842 0.38553113553113555 259 0.5264227642276422 154 0.425414364640884 241 0.42132867132867136 188 0.24802110817941952 C 0.016 -1.511817 0.00984 0.27554 0.175145 ENSG00000125872 ENST00000378858 T 0.55413 0.52 5.16 -5.88 0.02290 . 0.935551 0.08855 N 0.883870 T 0.00012 0.0000 N 0.04686 -0.185 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.04013 0.0;0.001 T 0.41538 -0.9503 9 0.02654 T 1 -7.2124 1.4288 0.02329 0.2344:0.2431:0.3275:0.195 rs1884643;rs59237991 141;141 Q6ZMD1;Q8WUT4 .;LRRN4_HUMAN A 141 ENSP00000368135:T141A ENSP00000368135:T141A T - 1 0 LRRN4 5981025 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.236000 0.02925 -0.947000 0.03673 -1.428000 0.01097 ACC NOVEL LRRN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077907.2 3 2.405407 KEEP 0 0 0 8 226 TT 0.99257 0.991794 0 - 5 60 158 0 0 10.087327 75 60 2279 103 ENST00000378858.4 0.0625 0.999218 FERMT1 55612 __UNKNOWN__ __UNKNOWN__ 20 6093090 6093090 __UNKNOWN__ Intron SNP G G A rs2326719 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:6093090G>A ENST00000217289.4 - 4 1321 FERMT1_ENST00000536936.1_Intron NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 NA NA cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616) cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 TTTACTGTACGTTCAAACAAC 0.388 NA G||| 1145 0.228634 0.0408 0.3112 5008 , , NA 15563 0.4692 NA 0.1899 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 G 284,4122 159.2+/-191.8 8,268,1927 137 137 137 -2.4 0 20 dbSNP_100 137 1598,7000 298.5+/-303.9 132,1334,2833 no intron FERMT1 NM_017671.4 140,1602,4760 AA,AG,GG 18.5857,6.4458,14.4725 6093090 1882,11122 2203 4299 6502 SO:0001627 intron_variant AK000123 CCDS13098.1 20p12.3 2013-01-10 2010-06-24 2007-12-14 ENSG00000101311 ENSG00000101311 55612 Fermitins, Pleckstrin homology (PH) domain containing 15889 protein-coding gene gene with protein product kindlin-1, kinderlin 607900 chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila) C20orf42 NA 12697302, 12789646 Standard NM_017671 NM_017671 NA Approved FLJ20116, URP1, KIND1, UNC112A uc002wmr.3 Q9BQL6 OTTHUMG00000031826 ENST00000217289.4:c.532+33C>T chr20.hg19:g.6093090G>A NA D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3 hg19 CCDS13098.1 0.02 10.825273 TACxTTC COVERED NOVEL FERMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077908.2 1 15.348287 KEEP 0 0 0 51 1742 GG 1 1 0 - 8 60 306 0 0 18.427896 290 60 9925 424 ENST00000217289.4 0.026846 1 FERMT1 55612 __UNKNOWN__ __UNKNOWN__ 20 6100367 6100367 __UNKNOWN__ Intron SNP T T C rs2273421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:6100367T>C ENST00000217289.4 - 2 771 FERMT1_ENST00000536936.1_Intron NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 NA NA cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616) cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 GTGCTCCAGATATCAAATTTG 0.338 NA T||| 829 0.165535 0.0333 0.1787 5008 , , NA 20369 0.4702 NA 0.0467 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK000123 CCDS13098.1 20p12.3 2013-01-10 2010-06-24 2007-12-14 ENSG00000101311 ENSG00000101311 55612 Fermitins, Pleckstrin homology (PH) domain containing 15889 protein-coding gene gene with protein product kindlin-1, kinderlin 607900 chromosome 20 open reading frame 42, fermitin family homolog 1 (Drosophila) C20orf42 NA 12697302, 12789646 Standard NM_017671 NM_017671 NA Approved FLJ20116, URP1, KIND1, UNC112A uc002wmr.3 Q9BQL6 OTTHUMG00000031826 ENST00000217289.4:c.18-148A>G chr20.hg19:g.6100367T>C NA D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3 hg19 CCDS13098.1 0.02 2.112147 AGAxATC COVERED NOVEL FERMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077908.2 0 3.008815 KEEP 0 0 0 10 305 TT 0.992708 0.991583 0 - 4 60 151 0 0 10.181628 73 60 2569 90 ENST00000217289.4 0.051948 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 6181071 6181071 __UNKNOWN__ IGR SNP G G A rs6085433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:6181071G>A NA NA FERMT1 (76880 upstream) : AL109618.1 (28369 downstream) NA NA NA TTCTGTAAACGTTTGAAATGA 0.363 NA A||| 3960 0.790735 0.9629 0.7997 5008 , , NA 20719 0.8363 NA 0.7147 False NA ,,, NA NA NA 2504 0.5828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.6181071G>A NA hg19 0.02 6.309301 AACxTTT COVERED NOVEL 0 1 4.213297 KEEP 0 0 0 14 478 GG 0.995343 0.995343 0 15 60 530 0 0 37.076276 185 60 6724 231 0.075 1 HAO1 54363 __UNKNOWN__ __UNKNOWN__ 20 7863999 7863999 __UNKNOWN__ 3'UTR SNP C C A rs3747926 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7863999C>A ENST00000378789.3 - 0 1405 NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 NA NA cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281) peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) (S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TCAATGTTTTCTTTTTAACAG 0.348 NA C||| 799 0.159545 0.1679 0.1268 5008 , , NA 19624 0.4097 NA 0.0179 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL021879 CCDS13100.1 20p12 2005-01-10 ENSG00000101323 ENSG00000101323 54363 1.1.3.15 4809 protein-coding gene gene with protein product 605023 GOX1 NA 9891009 Standard NM_017545 NA Approved GOX uc002wmw.1 Q9UJM8 OTTHUMG00000031841 ENST00000378789.3:c.*241G>T chr20.hg19:g.7863999C>A NA Q14CQ0|Q9UPZ0|Q9Y3I7 hg19 CCDS13100.1 0.02 7.868907 TTTxTTT COVERED NOVEL HAO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077926.2 4 4.513481 KEEP 0 0 0 15 505 CC 0.99649 0.99649 0 - 10 60 358 0 0 22.366339 239 60 8851 274 ENST00000378789.3 0.040161 1 HAO1 54363 __UNKNOWN__ __UNKNOWN__ 20 7866261 7866261 __UNKNOWN__ Intron SNP G G C rs2272813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7866261G>C ENST00000378789.3 - 7 1024 NM_017545.2 NP_060015.1 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase (glycolate oxidase) 1 NA NA cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281) peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) (S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 AAGATACAGAGTGATTCAGAA 0.383 NA A||| 1708 0.341054 0.8079 0.1816 5008 , , NA 20301 0.4206 NA 0.0298 False NA ,,, NA NA NA 2504 0.0613 NA NA NA NA 0 A 2994,1412 1032,930,241 86 78 81 2.4 0 20 dbSNP_100 81 292,8308 4,284,4012 no intron HAO1 NM_017545.2 1036,1214,4253 CC,CG,GG 3.3953,32.0472,25.2653 7866261 3286,9720 2203 4300 6503 SO:0001627 intron_variant AL021879 CCDS13100.1 20p12 2005-01-10 ENSG00000101323 ENSG00000101323 54363 1.1.3.15 4809 protein-coding gene gene with protein product 605023 GOX1 NA 9891009 Standard NM_017545 NA Approved GOX uc002wmw.1 Q9UJM8 OTTHUMG00000031841 ENST00000378789.3:c.973-24C>G chr20.hg19:g.7866261G>C NA Q14CQ0|Q9UPZ0|Q9Y3I7 hg19 CCDS13100.1 0.02 17.961943 AGAxTGA COVERED NOVEL HAO1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077926.2 5 12.026712 KEEP 0 0 0 40 1394 GG 1 1 0 - 14 60 524 0 0 32.510094 401 60 15098 562 ENST00000378789.3 0.033735 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7962128 7962128 __UNKNOWN__ 3'UTR SNP C C T rs1058007 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7962128C>T ENST00000246024.2 - 0 2035 NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CTCTGATGGCCACAACATTTC 0.328 NA T||| 1834 0.366214 0.6861 0.2421 5008 , , NA 17807 0.5883 NA 0.0755 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.*770G>A chr20.hg19:g.7962128C>T NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 1.916272 GGCxACA COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 1 3.604394 KEEP 0 0 0 12 415 CC 0.993634 0.993403 0 - 6 60 209 0 0 14.257269 82 60 3006 117 ENST00000246024.2 0.068182 0.999768 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7962707 7962707 __UNKNOWN__ 3'UTR SNP C C A rs2076016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7962707C>A ENST00000246024.2 - 0 1456 NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 TTTTCTATATCCTGATTGTCA 0.443 NA C||| 697 0.139177 0.003 0.0879 5008 , , NA 17154 0.5169 NA 0.0676 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.*191G>T chr20.hg19:g.7962707C>A NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 3.839229 TATxCTG COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 2 6.320552 KEEP 0 0 0 21 731 CC 0.999869 0.999869 0 - 6 60 195 0 0 11.609325 135 60 5054 193 ENST00000246024.2 0.042553 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7963041 7963041 __UNKNOWN__ Missense_Mutation SNP C C T rs2076015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7963041C>T ENST00000246024.2 - 8 1122 c.907G>A c.(907-909)Gga>Aga p.G303R NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 303 Glu-rich. NA G -> R (in dbSNP:rs2076015). {ECO:0000269|PubMed:15489334}. cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CCGTCCTCTCCTGGGGGCCCC 0.582 NA C||| 1773 0.354034 0.6483 0.2334 5008 , , NA 16298 0.5883 NA 0.0726 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C ARG/GLY 2456,1950 623.1+/-394.1 683,1090,430 140 123 129 907 -0.6 0 20 dbSNP_96 129 581,8019 156.0+/-209.9 22,537,3741 yes missense TMX4 NM_021156.2 125 705,1627,4171 TT,TC,CC 6.7558,44.2578,23.3508 benign 303/350 7963041 3037,9969 2203 4300 6503 SO:0001583 missense CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.907G>A chr20.hg19:g.7963041C>T ENSP00000246024:p.Gly303Arg NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 22.35711 CTCxTGG COVERED 764 0.3498168498168498 308 0.6260162601626016 73 0.20165745856353592 325 0.5681818181818182 58 0.07651715039577836 C 2.423 -0.332568 0.05314 0.557422 0.067558 ENSG00000125827 ENST00000246024 T 0.09255 3.0 5.72 -0.564 0.11774 . 0.974158 0.08471 N 0.940949 T 0.00012 0.0000 N 0.00347 -1.61 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.33033 -0.9884 9 0.10111 T 0.7 0.0112 5.9282 0.19124 0.0:0.2476:0.1306:0.6218 rs2076015;rs17846062;rs17859056;rs52797785;rs60332072;rs2076015 303 Q9H1E5 TMX4_HUMAN R 303 ENSP00000246024:G303R ENSP00000246024:G303R G - 1 0 TMX4 7911041 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 -1.068000 0.03447 -0.104000 0.12154 -1.353000 0.01230 GGA NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 4 22.574224 KEEP 0 0 0 75 2719 CC 1 1 0 - 23 60 835 0 0 53.905496 481 60 18135 689 ENST00000246024.2 0.045635 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7963318 7963318 __UNKNOWN__ Intron SNP G G A rs2076014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7963318G>A ENST00000246024.2 - 8 895 NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 ATGGTAATTCGGTAATCAATT 0.388 NA G||| 1193 0.238219 0.351 0.1311 5008 , , NA 20946 0.5169 NA 0.0726 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 G 1324,3058 193,938,1060 32 33 33 2.1 0 20 dbSNP_96 33 539,7959 18,503,3728 no intron TMX4 NM_021156.2 211,1441,4788 AA,AG,GG 6.3427,30.2145,14.4643 7963318 1863,11017 2191 4249 6440 SO:0001627 intron_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.680-50C>T chr20.hg19:g.7963318G>A NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 10.615856 TTCxGTA COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 0 8.125366 KEEP 0 0 0 27 890 GG 0.999988 0.999988 0 - 11 60 407 1 0 26.07937 254 60 9033 299 ENST00000246024.2 0.041509 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7990831 7990831 __UNKNOWN__ Intron SNP G G T rs6140496 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7990831G>T ENST00000246024.2 - 2 508 TMX4_ENST00000530935.1_Intron NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CATTTTATGTGCAACATTCAC 0.373 NA T||| 727 0.145168 0.0197 0.0893 5008 , , NA 13285 0.5198 NA 0.0696 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 T 119,4287 813.8+/-416.1 2,115,2086 87 76 80 3.8 0 20 dbSNP_114 80 559,8041 792.8+/-407.5 18,523,3759 no intron TMX4 NM_021156.2 20,638,5845 TT,TG,GG 6.5,2.7009,5.213 7990831 678,12328 2203 4300 6503 SO:0001627 intron_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.292+15C>A chr20.hg19:g.7990831G>T NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 12.754061 TGTxCAA COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 0 17.457547 KEEP 0 0 0 58 2108 GG 1 1 0 - 20 60 726 0 0 49.146423 319 60 12174 482 ENST00000246024.2 0.058997 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7999483 7999483 __UNKNOWN__ Intron SNP C C T rs2294246 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7999483C>T ENST00000246024.2 - 1 392 NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 TGAAATCATACTGTAAAATTT 0.323 NA T||| 763 0.152356 0.0348 0.0965 5008 , , NA 15991 0.5208 NA 0.0795 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.176+601G>A chr20.hg19:g.7999483C>T NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 1.903925 ATAxTGT COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 3 3.306579 KEEP 0 0 0 11 347 CC 0.993072 0.992072 0 - 5 60 180 0 0 12.323554 73 60 2647 89 ENST00000246024.2 0.064103 0.998993 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7999537 7999537 __UNKNOWN__ Intron SNP C C A rs2294247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7999537C>A ENST00000246024.2 - 1 392 NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 ATGACATCTCCAGGTCTTCAA 0.353 NA A||| 3625 0.723842 0.9077 0.549 5008 , , NA 17523 0.9504 NA 0.4185 False NA ,,, NA NA NA 2504 0.68 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.176+547G>T chr20.hg19:g.7999537C>A NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 6.542266 CTCxAGG COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 1 10.66923 KEEP 0 1 33 47 1592 CC 1 1 0 - 11 60 413 0 0 29.091262 151 60 5399 231 ENST00000246024.2 0.067901 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7999642 7999642 __UNKNOWN__ Intron SNP G G A rs2294248 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7999642G>A ENST00000246024.2 - 1 392 NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CATACTGCACGTGGATGTCAC 0.453 NA A||| 2557 0.510583 0.5401 0.3631 5008 , , NA 18602 0.8284 NA 0.2654 False NA ,,, NA NA NA 2504 0.5 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.176+442C>T chr20.hg19:g.7999642G>A NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 13.958452 CACxTGG COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 6 47.887164 KEEP 0 1 34 171 5862 GG 1 1 0 - 17 60 645 0 0 43.60603 310 60 10891 646 ENST00000246024.2 0.051988 1 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 7999943 7999943 __UNKNOWN__ Intron SNP C C T rs80032517 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:7999943C>T ENST00000246024.2 - 1 392 RP5-971N18.3_ENST00000607924.1_RNA NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CCGGCACCGGCGCCGCAGGTT 0.731 NA C||| 762 0.152157 0.0348 0.0951 5008 , , NA 10603 0.5208 NA 0.0795 False NA ,,, NA NA NA 2504 0.046 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.176+141G>A chr20.hg19:g.7999943C>T NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 1.739501 CGGxGCC COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 0 7.52209 KEEP 0 0 0 25 790 CC 0.999931 0.998131 0 - 4 60 129 0 0 8.083886 69 60 2334 115 ENST00000246024.2 0.054795 0.9982 TMX4 56255 __UNKNOWN__ __UNKNOWN__ 20 8000386 8000386 __UNKNOWN__ 5'UTR SNP A A G rs2205783 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:8000386A>G ENST00000246024.2 - 0 90 RP5-971N18.3_ENST00000607924.1_RNA NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 NA NA cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) protein disulfide isomerase activity (GO:0003756) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 GCCTACGCCTAGCGGCGCAGA 0.726 NA G||| 3706 0.740016 0.9085 0.5922 5008 , , NA 12178 0.9504 NA 0.4622 False NA ,,, NA NA NA 2504 0.6861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS13101.1 20p12 2011-10-19 2009-02-23 2009-02-23 ENSG00000125827 ENSG00000125827 56255 Protein disulfide isomerases 25237 protein-coding gene gene with protein product protein disulfide isomerase family A, member 14 thioredoxin domain containing 13 TXNDC13 NA Standard NM_021156 NM_021156 NA Approved DJ971N18.2, KIAA1162, PDIA14 uc002wmx.1 Q9H1E5 OTTHUMG00000031843 ENST00000246024.2:c.-126T>C chr20.hg19:g.8000386A>G NA Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8 hg19 CCDS13101.1 0.02 11.60442 CCTxGCG COVERED NOVEL TMX4-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000077928.2 2 37.531877 KEEP 0 1 38 138 4144 AA 1 1 0 - 11 60 410 0 0 26.592945 243 60 8308 477 ENST00000246024.2 0.043307 1 PLCB1 23236 __UNKNOWN__ __UNKNOWN__ 20 8741063 8741063 __UNKNOWN__ Missense_Mutation SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:8741063A>G ENST00000338037.6 + 25 2693 c.2666A>G c.(2665-2667)aAg>aGg p.K889R PLCB1_ENST00000378637.2_Missense_Mutation_p.K889R|PLCB1_ENST00000378641.3_Missense_Mutation_p.K889R|PLCB1_ENST00000494924.1_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 889 NA activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 GGTTCTGTAAAGGCACCTGCC 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 49 48 49 NA NA 20 NA 8741063 2203 4300 6503 SO:0001583 missense AB011153 CCDS13102.1, CCDS13103.1 20p12 2008-03-18 ENSG00000182621 ENSG00000182621 23236 3.1.4.11 15917 protein-coding gene gene with protein product 607120 NA 10760467, 11118617 Standard NM_015192 NA Approved KIAA0581, PLC-I, PLC154 uc002wnb.4 Q9NQ66 OTTHUMG00000031849 ENST00000338037.6:c.2666A>G chr20.hg19:g.8741063A>G ENSP00000338185:p.Lys889Arg NA D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26 hg19 CCDS13102.1 0.02 9.403139 TAAxGGC COVERED . . . . . . . . . . A 15.67 2.902949 0.52227 . . ENSG00000182621 ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719 T;T;T 0.19806 2.13;2.12;2.13 6.07 6.07 0.98685 . 0.169019 0.51477 D 0.000084 T 0.20170 0.0485 L 0.51422 1.61 0.54753 D 0.999981 B;B 0.34200 0.441;0.046 B;B 0.28553 0.091;0.017 T 0.03818 -1.1001 10 0.18276 T 0.48 . 16.6406 0.85098 1.0:0.0:0.0:0.0 . 889;889 Q9NQ66;Q9NQ66-2 PLCB1_HUMAN;. R 889;889;889;809;809 ENSP00000367908:K889R;ENSP00000338185:K889R;ENSP00000367904:K889R ENSP00000338185:K889R K + 2 0 PLCB1 8689063 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 8.476000 0.90421 2.326000 0.78906 0.533000 0.62120 AAG NOVEL PLCB1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077938.3 3 13.843701 KEEP 0 0 0 46 1517 AA 1 1 0 + 8 60 302 0 0 19.068905 214 60 7635 319 ENST00000338037.6 0.036036 1 PLCB4 5332 __UNKNOWN__ __UNKNOWN__ 20 9364799 9364799 __UNKNOWN__ Intron SNP A A G rs2076234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9364799A>G ENST00000378501.2 + 11 868 PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000334005.3_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000278655.4_Intron NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 NA NA inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AACATGAGATATGCATCTTCA 0.383 NA G||| 1532 0.305911 0.6815 0.2133 5008 , , NA 20779 0.2282 NA 0.1302 False NA ,,, NA NA NA 2504 0.1247 NA NA NA NA 0 G ,, 2576,1830 525.9+/-371.7 760,1056,387 78 76 77 ,, -2.6 0 20 dbSNP_96 77 1263,7337 756.5+/-407.5 81,1101,3118 no intron,intron,intron PLCB4 NM_000933.3,NM_001172646.1,NM_182797.2 ,, 841,2157,3505 GG,GA,AA 14.686,41.5343,29.5171 ,, ,, 9364799 3839,9167 2203 4300 6503 SO:0001627 intron_variant CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 5332 3.1.4.11 9059 protein-coding gene gene with protein product 600810 NA 8530101 Standard NM_000933 NA Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.854-49A>G chr20.hg19:g.9364799A>G NA B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 hg19 CCDS13104.1 0.02 9.598136 GATxTGC COVERED NOVEL PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000077958.2 2 4.51193 KEEP 0 0 0 15 447 AA 0.99649 0.99649 0 + 7 60 269 0 0 16.585221 227 60 8025 266 ENST00000378501.2 0.029915 1 PLCB4 5332 __UNKNOWN__ __UNKNOWN__ 20 9424810 9424810 __UNKNOWN__ Intron SNP A A C rs6039471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9424810A>C ENST00000378501.2 + 28 2793 PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000334005.3_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000278655.4_Intron NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 NA NA inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTTGATTCTATTTTTCTCCC 0.313 NA A||| 1192 0.238019 0.3275 0.2637 5008 , , NA 17622 0.3403 NA 0.1521 False NA ,,, NA NA NA 2504 0.0818 NA NA NA NA 0 A ,, 1352,3054 435.3+/-344.3 216,920,1067 53 54 54 ,, -1 0 20 dbSNP_114 54 1571,7023 286.9+/-297.9 141,1289,2867 no intron,intron,intron PLCB4 NM_000933.3,NM_001172646.1,NM_182797.2 ,, 357,2209,3934 CC,CA,AA 18.2802,30.6854,22.4846 ,, ,, 9424810 2923,10077 2203 4297 6500 SO:0001627 intron_variant CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 5332 3.1.4.11 9059 protein-coding gene gene with protein product 600810 NA 8530101 Standard NM_000933 NA Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.2779-15A>C chr20.hg19:g.9424810A>C NA B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 hg19 CCDS13104.1 0.02 4.845127 TCTxTTT COVERED NOVEL PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000077958.2 1 2.706901 KEEP 0 0 0 9 270 AA 0.99254 0.992527 0 + 5 60 193 0 0 12.937633 101 60 3555 126 ENST00000378501.2 0.04717 0.999987 PLCB4 5332 __UNKNOWN__ __UNKNOWN__ 20 9424904 9424904 __UNKNOWN__ Intron SNP C C A rs6056629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9424904C>A ENST00000378501.2 + 28 2859 PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000334005.3_Intron|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000414679.2_Intron|PLCB4_ENST00000278655.4_Intron NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 NA NA inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CAGTGCTCTACAGCTACTATT 0.343 NA A||| 1305 0.260583 0.3956 0.2666 5008 , , NA 17238 0.3413 NA 0.1541 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 A ,, 1679,2727 652.1+/-399.3 314,1051,838 63 65 64 ,, -0.9 0 20 dbSNP_114 64 1585,7013 740.9+/-407.1 143,1299,2857 no intron,intron,intron PLCB4 NM_000933.3,NM_001172646.1,NM_182797.2 ,, 457,2350,3695 AA,AC,CC 18.4345,38.1071,25.1 ,, ,, 9424904 3264,9740 2203 4299 6502 SO:0001627 intron_variant CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 5332 3.1.4.11 9059 protein-coding gene gene with protein product 600810 NA 8530101 Standard NM_000933 NA Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.2844+14C>A chr20.hg19:g.9424904C>A NA B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 hg19 CCDS13104.1 0.02 6.081847 CTAxAGC COVERED NOVEL PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000077958.2 0 6.320341 KEEP 0 0 0 21 741 CC 0.999869 0.999869 0 + 7 60 255 0 0 16.189182 162 60 6149 231 ENST00000378501.2 0.04142 1 PLCB4 5332 __UNKNOWN__ __UNKNOWN__ 20 9460659 9460659 __UNKNOWN__ 3'UTR SNP A A C rs74772813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9460659A>C ENST00000378501.2 + 0 4603 PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_3'UTR|PLCB4_ENST00000378493.1_3'UTR|PLCB4_ENST00000378473.3_3'UTR|PLCB4_ENST00000278655.4_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 NA NA inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CCCTCTCTCTATATATATATG 0.249 NA A||| 713 0.142372 0.1172 0.1398 5008 , , NA 16790 0.3879 NA 0.0119 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13104.1, CCDS13105.1, CCDS54447.1 20p12 2008-03-18 ENSG00000101333 ENSG00000101333 5332 3.1.4.11 9059 protein-coding gene gene with protein product 600810 NA 8530101 Standard NM_000933 NA Approved uc021wam.1 Q15147 OTTHUMG00000031853 ENST00000378501.2:c.*1003A>C chr20.hg19:g.9460659A>C NA B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2 hg19 CCDS13104.1 0.02 12.834693 TCTxTAT COVERED NOVEL PLCB4-011 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000077958.2 0 8.425676 KEEP 0 0 0 28 881 AA 0.999997 0.999997 0 + 13 60 509 1 0 34.895832 238 60 8809 334 ENST00000378501.2 0.051793 1 PAK7 57144 __UNKNOWN__ __UNKNOWN__ 20 9518392 9518392 __UNKNOWN__ 3'UTR SNP G G A rs1045762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9518392G>A ENST00000378429.3 - 0 4423 PAK7_ENST00000378423.1_3'UTR|PAK7_ENST00000353224.5_3'UTR NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 NA NA apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165) mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TTATATTAATGCTTTAATATT 0.269 NA A||| 2556 0.510383 0.8767 0.3876 5008 , , NA 13800 0.5337 NA 0.3101 False NA ,,, NA NA NA 2504 0.2843 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB033090 CCDS13107.1 20p12 2008-06-17 2008-06-17 ENSG00000101349 ENSG00000101349 57144 15916 protein-coding gene gene with protein product 608038 p21(CDKN1A)-activated kinase 7 NA 11756552, 10574462 Standard NM_020341 NA Approved KIAA1264, PAK5 uc002wnk.2 Q9P286 OTTHUMG00000031857 ENST00000378429.3:c.*1717C>T chr20.hg19:g.9518392G>A NA A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6 hg19 CCDS13107.1 0.02 4.319894 AATxCTT COVERED NOVEL PAK7-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077962.1 1 3.611786 KEEP 0 0 0 12 428 GG 0.993634 0.993626 0 - 11 60 389 0 0 28.670418 98 60 3651 141 ENST00000378429.3 0.100917 0.999993 PAK7 57144 __UNKNOWN__ __UNKNOWN__ 20 9523379 9523379 __UNKNOWN__ Intron SNP A A G rs41275620 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9523379A>G ENST00000378429.3 - 10 2416 PAK7_ENST00000378423.1_Intron|PAK7_ENST00000353224.5_Intron NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 NA NA apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165) mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TGTTAGGCACACCCTACTGGT 0.502 NA A||| 828 0.165335 0.3079 0.0648 5008 , , NA 18767 0.1994 NA 0.0726 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 A , 1210,3196 420.8+/-339.2 182,846,1175 85 78 80 , 4.8 0.8 20 dbSNP_127 80 765,7835 181.3+/-230.0 38,689,3573 no intron,intron PAK7 NM_020341.3,NM_177990.2 , 220,1535,4748 GG,GA,AA 8.8953,27.4626,15.1853 , , 9523379 1975,11031 2203 4300 6503 SO:0001627 intron_variant AB033090 CCDS13107.1 20p12 2008-06-17 2008-06-17 ENSG00000101349 ENSG00000101349 57144 15916 protein-coding gene gene with protein product 608038 p21(CDKN1A)-activated kinase 7 NA 11756552, 10574462 Standard NM_020341 NA Approved KIAA1264, PAK5 uc002wnk.2 Q9P286 OTTHUMG00000031857 ENST00000378429.3:c.1870-12T>C chr20.hg19:g.9523379A>G NA A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6 hg19 CCDS13107.1 0.02 3.863069 CACxCCC COVERED NOVEL PAK7-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077962.1 1 6.017868 KEEP 0 0 0 20 616 AA 0.999863 0.999862 0 - 6 60 205 0 0 12.874059 121 60 4274 186 ENST00000378429.3 0.047244 1 PAK7 57144 __UNKNOWN__ __UNKNOWN__ 20 9546554 9546554 __UNKNOWN__ Silent SNP G G A rs6133723 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:9546554G>A ENST00000378429.3 - 6 2014 c.1468C>T c.(1468-1470)Ctg>Ttg p.L490L PAK7_ENST00000378423.1_Silent_p.L490L|PAK7_ENST00000353224.5_Silent_p.L490L NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 490 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165) mitochondrion (GO:0005739)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TTGAAAAGCAGTTCTCGTCTC 0.433 NA G||| 402 0.0802716 0.0174 0.0231 5008 , , NA 18369 0.25 NA 0.0388 False NA ,,, NA NA NA 2504 0.0736 NA NA NA NA 0 G , 133,4273 95.7+/-134.4 1,131,2071 266 247 254 1468,1468 3.5 0.9 20 dbSNP_114 254 457,8143 136.0+/-193.2 17,423,3860 no coding-synonymous,coding-synonymous PAK7 NM_020341.3,NM_177990.2 , 18,554,5931 AA,AG,GG 5.314,3.0186,4.5364 , 490/720,490/720 9546554 590,12416 2203 4300 6503 SO:0001819 synonymous_variant AB033090 CCDS13107.1 20p12 2008-06-17 2008-06-17 ENSG00000101349 ENSG00000101349 57144 15916 protein-coding gene gene with protein product 608038 p21(CDKN1A)-activated kinase 7 NA 11756552, 10574462 Standard NM_020341 NA Approved KIAA1264, PAK5 uc002wnk.2 Q9P286 OTTHUMG00000031857 ENST00000378429.3:c.1468C>T chr20.hg19:g.9546554G>A NA A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6 hg19 CCDS13107.1 0.02 25.023076 GCAxTTC COVERED NOVEL PAK7-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000077962.1 3 17.457637 KEEP 0 0 0 58 2131 GG 1 1 0 - 27 60 1001 0 0 66.181102 525 60 20196 762 ENST00000378429.3 0.048913 1 BTBD3 22903 __UNKNOWN__ __UNKNOWN__ 20 11903654 11903654 __UNKNOWN__ Silent SNP G G A rs35364034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:11903654G>A ENST00000405977.1 + 5 1534 c.909G>A c.(907-909)gcG>gcA p.A303A BTBD3_ENST00000399006.2_Silent_p.A242A|BTBD3_ENST00000378226.2_Silent_p.A303A|BTBD3_ENST00000254977.3_Silent_p.A242A NM_001282550.1|NM_001282552.1|NM_001282554.1 NP_001269479.1|NP_001269481.1|NP_001269483.1 Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 303 NA cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813) cytosol (GO:0005829)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AAGATCTGGCGTTGAGCATTG 0.448 NA G||| 478 0.0954473 0.0371 0.0706 5008 , , NA 22219 0.2054 NA 0.0368 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 G , 186,4220 118.4+/-156.1 4,178,2021 106 106 106 909,726 -2.5 0.1 20 dbSNP_126 106 424,8176 131.8+/-189.6 10,404,3886 no coding-synonymous,coding-synonymous BTBD3 NM_014962.2,NM_181443.1 , 14,582,5907 AA,AG,GG 4.9302,4.2215,4.6901 , 303/523,242/462 11903654 610,12396 2203 4300 6503 SO:0001819 synonymous_variant AB023169 CCDS13113.1, CCDS13114.1 20p12.2 2013-01-08 ENSG00000132640 ENSG00000132640 22903 BTB/POZ domain containing 15854 protein-coding gene gene with protein product 615566 NA Standard NM_001282551 NA Approved KIAA0952, dJ742J24.1 uc002wnz.3 Q9Y2F9 OTTHUMG00000031889 ENST00000405977.1:c.909G>A chr20.hg19:g.11903654G>A NA D3DW19|Q5JY73 hg19 CCDS13113.1 0.02 17.155043 GGCxTTG COVERED NOVEL BTBD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078021.3 4 26.116125 KEEP 0 1 32 98 3335 GG 1 1 0 + 20 60 710 0 0 45.746833 396 60 14005 630 ENST00000405977.1 0.048077 1 BTBD3 22903 __UNKNOWN__ __UNKNOWN__ 20 11905642 11905642 __UNKNOWN__ 3'UTR SNP G G A rs3177118 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:11905642G>A ENST00000405977.1 + 0 3522 BTBD3_ENST00000399006.2_3'UTR|BTBD3_ENST00000378226.2_3'UTR|BTBD3_ENST00000254977.3_3'UTR NM_001282550.1|NM_001282552.1|NM_001282554.1 NP_001269479.1|NP_001269481.1|NP_001269483.1 Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 NA NA cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813) cytosol (GO:0005829)|nucleus (GO:0005634) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GCTGGCTTGTGCTGGTTTAGT 0.453 NA G||| 2053 0.409944 0.3994 0.451 5008 , , NA 18757 0.4246 NA 0.3996 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023169 CCDS13113.1, CCDS13114.1 20p12.2 2013-01-08 ENSG00000132640 ENSG00000132640 22903 BTB/POZ domain containing 15854 protein-coding gene gene with protein product 615566 NA Standard NM_001282551 NA Approved KIAA0952, dJ742J24.1 uc002wnz.3 Q9Y2F9 OTTHUMG00000031889 ENST00000405977.1:c.*1328G>A chr20.hg19:g.11905642G>A NA D3DW19|Q5JY73 hg19 CCDS13113.1 0.02 5.894806 TGTxCTG COVERED NOVEL BTBD3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078021.3 0 8.126095 KEEP 0 0 0 27 936 GG 0.999988 0.999988 0 + 15 60 511 0 0 35.883041 164 60 5999 251 ENST00000405977.1 0.083799 1 SPTLC3 55304 __UNKNOWN__ __UNKNOWN__ 20 13029790 13029790 __UNKNOWN__ Intron SNP C C T rs6078899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13029790C>T ENST00000399002.2 + 2 577 SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 NA NA small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059) pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 TACGTATGCGCACCTCCCTGG 0.443 NA C||| 1494 0.298323 0.1241 0.33 5008 , , NA 18326 0.3889 NA 0.2346 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 C 627,3779 270.7+/-269.8 42,543,1618 116 104 108 -0.2 0 20 dbSNP_114 108 2242,6358 380.6+/-339.7 293,1656,2351 no intron SPTLC3 NM_018327.2 335,2199,3969 TT,TC,CC 26.0698,14.2306,22.059 13029790 2869,10137 2203 4300 6503 SO:0001627 intron_variant AL109983 CCDS13115.2 20p12.1 2011-07-05 2006-12-21 2006-12-21 ENSG00000172296 ENSG00000172296 55304 2.3.1.50 16253 protein-coding gene gene with protein product 611120 chromosome 20 open reading frame 38, serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2) C20orf38, SPTLC2L NA 17023427 Standard NM_018327 NM_018327 NA Approved LCB2B, FLJ11112, hLCB2b uc002wod.1 Q9NUV7 OTTHUMG00000031899 ENST00000399002.2:c.303+12C>T chr20.hg19:g.13029790C>T NA A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0 hg19 CCDS13115.2 0.02 19.569383 GCGxACC COVERED NOVEL SPTLC3-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254544.1 2 6.759857 KEEP 0 4 118 64 2309 CC 1 1 0 + 20 60 671 0 0 39.983077 494 60 18414 685 ENST00000399002.2 0.038911 1 SPTLC3 55304 __UNKNOWN__ __UNKNOWN__ 20 13090745 13090745 __UNKNOWN__ Intron SNP G G C rs2236126|rs386812643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13090745G>C ENST00000399002.2 + 7 1100 SPTLC3_ENST00000378194.4_Intron NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 NA NA small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059) pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758) breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 TTTTTTTTTTGGTATTATTTA 0.388 NA G||| 1990 0.397364 0.6808 0.389 5008 , , NA 17981 0.3313 NA 0.328 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 G 2135,1479 642,851,314 30 30 30 -0.9 0 20 dbSNP_98 30 2742,5424 455,1832,1796 no intron SPTLC3 NM_018327.2 1097,2683,2110 CC,CG,GG 33.5783,40.9242,41.4007 13090745 4877,6903 1807 4083 5890 SO:0001627 intron_variant AL109983 CCDS13115.2 20p12.1 2011-07-05 2006-12-21 2006-12-21 ENSG00000172296 ENSG00000172296 55304 2.3.1.50 16253 protein-coding gene gene with protein product 611120 chromosome 20 open reading frame 38, serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2) C20orf38, SPTLC2L NA 17023427 Standard NM_018327 NM_018327 NA Approved LCB2B, FLJ11112, hLCB2b uc002wod.1 Q9NUV7 OTTHUMG00000031899 ENST00000399002.2:c.827-14G>C chr20.hg19:g.13090745G>C NA A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0 hg19 CCDS13115.2 0.02 4.011843 TTTxGTA COVERED NOVEL SPTLC3-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000254544.1 1 7.824659 KEEP 0 0 0 26 899 GG 0.999997 0.99999 0 + 6 60 215 0 0 14.278988 103 70 3717 175 ENST00000399002.2 0.055046 0.999993 ISM1 140862 __UNKNOWN__ __UNKNOWN__ 20 13269248 13269248 __UNKNOWN__ Silent SNP C C T rs3827705 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13269248C>T ENST00000262487.4 + 4 711 c.705C>T c.(703-705)aaC>aaT p.N235N TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 235 TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}. NA extracellular region (GO:0005576) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 CCTGCGGGAACGGCAACCAGA 0.577 NA C||| 437 0.0872604 0.0514 0.049 5008 , , NA 16402 0.1974 NA 0.0477 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 C 178,3918 4,170,1874 77 82 80 705 -11.7 0.4 20 dbSNP_107 80 343,8069 9,325,3872 no coding-synonymous ISM1 NM_080826.1 13,495,5746 TT,TC,CC 4.0775,4.3457,4.1653 235/465 13269248 521,11987 2048 4206 6254 SO:0001819 synonymous_variant AL133463 CCDS46579.1 20p12.1 2013-05-15 2013-05-15 2008-12-23 ENSG00000101230 ENSG00000101230 140862 16213 protein-coding gene gene with protein product 615793 chromosome 20 open reading frame 82, isthmin 1 homolog (zebrafish) C20orf82 NA Standard NM_080826 NA Approved bA149I18.1 uc010gce.1 B1AKI9 ENST00000262487.4:c.705C>T chr20.hg19:g.13269248C>T NA Q8WVH9 hg19 CCDS46579.1 0.02 10.803776 GAAxGGC COVERED NOVEL ISM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078039.2 2 14.446097 KEEP 0 0 0 48 1640 CC 1 1 0 + 8 60 291 0 0 17.480835 247 60 8783 371 ENST00000262487.4 0.031373 1 ESF1 51575 __UNKNOWN__ __UNKNOWN__ 20 13765507 13765507 __UNKNOWN__ 5'UTR SNP C C T rs6042360 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13765507C>T ENST00000202816.1 - 0 25 NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) extracellular space (GO:0005615)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 CTCTTCAACTCCAGTCCATCC 0.582 NA C||| 1314 0.26238 0.2799 0.1902 5008 , , NA 15141 0.4395 NA 0.1064 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS13117.1 20p12.1 2007-02-12 2006-11-13 2006-11-13 ENSG00000089048 ENSG00000089048 51575 15898 protein-coding gene gene with protein product chromosome 20 open reading frame 6 C20orf6 NA Standard NM_016649 NM_016649 NA Approved bA526K24.1 uc002wok.2 Q9H501 OTTHUMG00000031906 ENST00000202816.1:c.-83G>A chr20.hg19:g.13765507C>T NA Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6 hg19 CCDS13117.1 0.02 2.096696 ACTxCAG COVERED NOVEL ESF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078049.1 1 4.514687 KEEP 0 0 0 15 526 CC 0.99649 0.976088 0 - 6 60 215 0 0 16.083163 50 60 1901 74 ENST00000202816.1 0.107143 0.979526 NDUFAF5 79133 __UNKNOWN__ __UNKNOWN__ 20 13768079 13768079 __UNKNOWN__ Intron SNP T T G rs6042361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13768079T>G ENST00000378106.5 + 2 382 NDUFAF5_ENST00000475968.1_Intron|NDUFAF5_ENST00000463598.1_Intron NM_024120.4 NP_077025.2 Q5TEU4 NDUF5_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 NA NA mitochondrial respiratory chain complex I assembly (GO:0032981) extrinsic component of mitochondrial inner membrane (GO:0031314) methyltransferase activity (GO:0008168) NA ACTTGCTATCTGAAATGGCAG 0.373 NA T||| 1327 0.264976 0.2799 0.1931 5008 , , NA 18597 0.4504 NA 0.1064 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 T , 349,1035 48,253,391 61 55 57 , 3.7 0 20 dbSNP_114 57 315,2867 13,289,1289 no intron,intron C20orf7 NM_001039375.2,NM_024120.4 , 61,542,1680 GG,GT,TT 9.8994,25.2168,14.5423 , , 13768079 664,3902 692 1591 2283 SO:0001627 intron_variant CCDS13118.1, CCDS33441.1 20p12.1 2012-10-12 2012-05-08 2012-05-08 ENSG00000101247 ENSG00000101247 79133 Mitochondrial respiratory chain complex assembly factors 15899 protein-coding gene gene with protein product 612360 chromosome 20 open reading frame 7 C20orf7 NA 18940309, 21607760 Standard NM_001039375 NM_024120 NA Approved dJ842G6.1 uc002wom.3 Q5TEU4 OTTHUMG00000031909 ENST00000378106.5:c.263+81T>G chr20.hg19:g.13768079T>G NA A8K166|Q6GPH3|Q9H6F4 hg19 CCDS13118.1 0.02 4.187873 ATCxGAA COVERED NOVEL NDUFAF5-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078057.2 0 5.114998 KEEP 0 0 0 17 531 TT 0.999366 0.999366 0 + 8 60 291 0 0 20.038061 116 60 4264 146 ENST00000378106.5 0.064516 0.999999 NDUFAF5 79133 __UNKNOWN__ __UNKNOWN__ 20 13795018 13795018 __UNKNOWN__ Intron SNP A A G rs2273318 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13795018A>G ENST00000378106.5 + 9 897 NDUFAF5_ENST00000475968.1_Intron|NDUFAF5_ENST00000463598.1_Intron NM_024120.4 NP_077025.2 Q5TEU4 NDUF5_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 NA NA mitochondrial respiratory chain complex I assembly (GO:0032981) extrinsic component of mitochondrial inner membrane (GO:0031314) methyltransferase activity (GO:0008168) NA TTTTTTTCTTAATGGTTGTGG 0.363 NA A||| 1326 0.264776 0.2799 0.1931 5008 , , NA 19825 0.4494 NA 0.1064 False NA ,,, NA NA NA 2504 0.2679 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13118.1, CCDS33441.1 20p12.1 2012-10-12 2012-05-08 2012-05-08 ENSG00000101247 ENSG00000101247 79133 Mitochondrial respiratory chain complex assembly factors 15899 protein-coding gene gene with protein product 612360 chromosome 20 open reading frame 7 C20orf7 NA 18940309, 21607760 Standard NM_001039375 NM_024120 NA Approved dJ842G6.1 uc002wom.3 Q5TEU4 OTTHUMG00000031909 ENST00000378106.5:c.779-2091A>G chr20.hg19:g.13795018A>G NA A8K166|Q6GPH3|Q9H6F4 hg19 CCDS13118.1 0.02 14.86982 CTTxATG COVERED NOVEL NDUFAF5-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078057.2 1 18.648423 KEEP 0 0 0 62 1811 AA 1 1 0 + 19 60 735 0 0 50.835279 318 60 11166 472 ENST00000378106.5 0.05638 1 NDUFAF5 79133 __UNKNOWN__ __UNKNOWN__ 20 13798676 13798676 __UNKNOWN__ 3'UTR SNP C C T rs2423751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13798676C>T ENST00000378106.5 + 0 1977 NM_024120.4 NP_077025.2 Q5TEU4 NDUF5_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 NA NA mitochondrial respiratory chain complex I assembly (GO:0032981) extrinsic component of mitochondrial inner membrane (GO:0031314) methyltransferase activity (GO:0008168) NA GTTAGCTGTTCGCTGTCTTTT 0.468 NA T||| 2257 0.450679 0.4856 0.3703 5008 , , NA 20623 0.5565 NA 0.3569 False NA ,,, NA NA NA 2504 0.4479 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13118.1, CCDS33441.1 20p12.1 2012-10-12 2012-05-08 2012-05-08 ENSG00000101247 ENSG00000101247 79133 Mitochondrial respiratory chain complex assembly factors 15899 protein-coding gene gene with protein product 612360 chromosome 20 open reading frame 7 C20orf7 NA 18940309, 21607760 Standard NM_001039375 NM_024120 NA Approved dJ842G6.1 uc002wom.3 Q5TEU4 OTTHUMG00000031909 ENST00000378106.5:c.*820C>T chr20.hg19:g.13798676C>T NA A8K166|Q6GPH3|Q9H6F4 hg19 CCDS13118.1 0.02 11.185831 GTTxGCT COVERED NOVEL NDUFAF5-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078057.2 4 10.533189 KEEP 0 0 0 35 1171 CC 0.999999 0.999999 0 + 19 60 690 0 0 48.648648 238 60 8293 348 ENST00000378106.5 0.07393 1 SEL1L2 80343 __UNKNOWN__ __UNKNOWN__ 20 13846191 13846191 __UNKNOWN__ Intron SNP A A G rs761812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13846191A>G ENST00000284951.5 - 16 1479 SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) NA NA integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CAAGGAGACTAGTTAGCCAGT 0.448 NA A||| 1714 0.342252 0.2148 0.2954 5008 , , NA 18165 0.4702 NA 0.3757 False NA ,,, NA NA NA 2504 0.3814 NA NA NA NA 0 A 858,2914 96,666,1124 40 37 38 2.2 0.9 20 dbSNP_86 38 2965,5241 542,1881,1680 no intron SEL1L2 NM_025229.1 638,2547,2804 GG,GA,AA 36.1321,22.7466,31.9168 13846191 3823,8155 1886 4103 5989 SO:0001627 intron_variant AL137678 CCDS59443.1 20p12.1 2011-03-31 2006-11-24 2006-11-24 ENSG00000101251 ENSG00000101251 80343 15897 protein-coding gene gene with protein product 614289 chromosome 20 open reading frame 50 C20orf50 NA Standard NM_025229 NM_001271539 NA Approved DKFZp434C1826 uc010zrl.3 Q5TEA6 OTTHUMG00000031910 ENST00000284951.5:c.1405-31T>C chr20.hg19:g.13846191A>G NA B4DXX5 hg19 0.02 14.973133 ACTxGTT COVERED NOVEL SEL1L2-002 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078067.3 1 16.55013 KEEP 0 0 0 55 1740 AA 1 1 0 - 21 60 785 0 0 54.774079 304 60 11175 438 ENST00000284951.5 0.064615 1 SEL1L2 80343 __UNKNOWN__ __UNKNOWN__ 20 13895660 13895660 __UNKNOWN__ Intron SNP G G C rs17191270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:13895660G>C ENST00000284951.5 - 5 461 SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_Intron Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) NA NA integral component of membrane (GO:0016021) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TGAAGGTAAAGACCAGAAAGC 0.373 NA G||| 1290 0.257588 0.171 0.1974 5008 , , NA 18862 0.3026 NA 0.2694 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL137678 CCDS59443.1 20p12.1 2011-03-31 2006-11-24 2006-11-24 ENSG00000101251 ENSG00000101251 80343 15897 protein-coding gene gene with protein product 614289 chromosome 20 open reading frame 50 C20orf50 NA Standard NM_025229 NM_001271539 NA Approved DKFZp434C1826 uc010zrl.3 Q5TEA6 OTTHUMG00000031910 ENST00000284951.5:c.387-1070C>G chr20.hg19:g.13895660G>C NA B4DXX5 hg19 0.02 1.951239 AAAxACC COVERED NOVEL SEL1L2-002 KNOWN not_organism_supported|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078067.3 0 3.912428 KEEP 0 0 0 13 451 GG 0.994391 0.993952 0 - 4 60 147 0 0 9.627946 80 60 2897 101 ENST00000284951.5 0.047619 0.999559 FLRT3 23767 __UNKNOWN__ __UNKNOWN__ 20 14306896 14306896 __UNKNOWN__ Silent SNP G G A rs6042672 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:14306896G>A ENST00000378053.3 - 2 1513 c.1257C>T c.(1255-1257)acC>acT p.T419T FLRT3_ENST00000341420.4_Silent_p.T419T|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 419 Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}. NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556) extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578) chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057) breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TGGTATCAGAGGTGACAGACT 0.438 NA G||| 1721 0.34365 0.4334 0.2089 5008 , , NA 21357 0.373 NA 0.2763 False NA ,,, NA NA NA 2504 0.3569 NA NA NA NA 0 G ,, 1858,2548 538.7+/-375.1 404,1050,749 139 136 137 1257,,1257 4 1 20 dbSNP_114 137 2288,6312 385.1+/-341.3 323,1642,2335 no coding-synonymous,intron,coding-synonymous FLRT3,MACROD2 NM_013281.3,NM_080676.5,NM_198391.2 ,, 727,2692,3084 AA,AG,GG 26.6047,42.1698,31.8776 ,, 419/650,,419/650 14306896 4146,8860 2203 4300 6503 SO:0001819 synonymous_variant AF169677 CCDS13121.1 20p11 2013-02-11 ENSG00000125848 ENSG00000125848 23767 Fibronectin type III domain containing 3762 protein-coding gene gene with protein product 604808 NA 10644439 Standard NM_013281 NM_198391 NA Approved uc002wow.2 Q9NZU0 OTTHUMG00000031914 ENST00000378053.3:c.1257C>T chr20.hg19:g.14306896G>A NA D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259 hg19 CCDS13121.1 0.02 13.100638 AGAxGTG COVERED NOVEL FLRT3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078075.1 2 11.006179 KEEP 0 2 64 59 2091 GG 1 1 0 - 9 60 341 0 0 20.293633 336 60 12387 481 ENST00000378053.3 0.026087 1 MACROD2 140733 __UNKNOWN__ __UNKNOWN__ 20 16025379 16025379 __UNKNOWN__ Intron SNP C C T rs57199172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:16025379C>T ENST00000407045.3 + 5 490 MACROD2_ENST00000402914.1_Intron|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000378058.3_Intron A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 NA NA brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278) nucleus (GO:0005634) deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798) breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TTTGCCAAGTCCCCACAGCAT 0.423 NA T||| 1032 0.20607 0.5272 0.0562 5008 , , NA 18235 0.2331 NA 0.003 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC101218 CCDS13120.2, CCDS33443.1 20p12.1 2011-04-28 2007-07-24 2007-07-24 ENSG00000172264 ENSG00000172264 140733 16126 protein-coding gene gene with protein product 611567 chromosome 20 open reading frame 133 C20orf133 NA Standard NM_080676 NM_080676 NA Approved dJ631M13.5 uc002wot.3 A1Z1Q3 OTTHUMG00000031919 ENST00000407045.3:c.253+95C>T chr20.hg19:g.16025379C>T NA A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71 hg19 0.02 10.507424 AGTxCCC COVERED NOVEL MACROD2-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000078098.3 0 9.931368 KEEP 0 0 0 33 1142 CC 0.999998 0.999998 0 + 11 60 399 1 0 24.881571 277 60 10033 372 ENST00000407045.3 0.038194 1 MACROD2 140733 __UNKNOWN__ __UNKNOWN__ 20 16030379 16030379 __UNKNOWN__ Intron SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:16030379G>C ENST00000407045.3 + 6 490 MACROD2_ENST00000402914.1_Intron|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000378058.3_Intron A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 NA NA brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278) nucleus (GO:0005634) deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798) breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TGAGGGGTGAGAGACATTTAA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC101218 CCDS13120.2, CCDS33443.1 20p12.1 2011-04-28 2007-07-24 2007-07-24 ENSG00000172264 ENSG00000172264 140733 16126 protein-coding gene gene with protein product 611567 chromosome 20 open reading frame 133 C20orf133 NA Standard NM_080676 NM_080676 NA Approved dJ631M13.5 uc002wot.3 A1Z1Q3 OTTHUMG00000031919 ENST00000407045.3:c.254-99G>C chr20.hg19:g.16030379G>C NA A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71 hg19 0.02 9.223679 TGAxAGA COVERED NOVEL MACROD2-012 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000078098.3 1 7.825697 KEEP 0 0 0 26 934 GG 0.999957 0.999957 0 + 8 60 310 0 0 19.723746 223 60 8520 295 ENST00000407045.3 0.034632 1 OTOR 56914 __UNKNOWN__ __UNKNOWN__ 20 16729138 16729138 __UNKNOWN__ Missense_Mutation SNP T T C rs6135876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:16729138T>C ENST00000246081.2 + 1 136 c.92T>C c.(91-93)cTc>cCc p.L31P NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 31 NA L -> P (in dbSNP:rs6135876). {ECO:0000269|Ref.6}. cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605) extracellular region (GO:0005576) breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 TCCAAGAAGCTCTGTGCAGAT 0.363 NA T||| 974 0.194489 0.0545 0.1239 5008 , , NA 18794 0.3165 NA 0.16 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 T PRO/LEU 345,4061 179.0+/-207.6 12,321,1870 216 215 215 92 5.9 1 20 dbSNP_114 215 1503,7097 285.8+/-297.4 142,1219,2939 yes missense OTOR NM_020157.2 98 154,1540,4809 CC,CT,TT 17.4767,7.8302,14.2088 probably-damaging 31/129 16729138 1848,11158 2203 4300 6503 SO:0001583 missense AF233261 CCDS13124.1 20p12.1-p11.23 2005-11-14 ENSG00000125879 ENSG00000125879 56914 8517 protein-coding gene gene with protein product 606067 NA 10873378 Standard NM_020157 NA Approved MIAL, MIAL1, FDP uc002wpj.3 Q9NRC9 OTTHUMG00000031931 ENST00000246081.2:c.92T>C chr20.hg19:g.16729138T>C ENSP00000246081:p.Leu31Pro NA D3DW22|Q3MIU6 hg19 CCDS13124.1 0.02 23.535043 AGCxCTG COVERED 381 0.17445054945054944 31 0.06300813008130081 53 0.1464088397790055 172 0.3006993006993007 125 0.16490765171503957 T 20.9 4.074316 0.76415 0.078302 0.174767 ENSG00000125879 ENST00000246081 D 0.83506 -1.73 5.93 5.93 0.95920 Src homology-3 domain (1); 0.145914 0.49916 D 0.000140 T 0.00039 0.0001 L 0.43152 1.355 0.09310 P 0.999999999207977 D 0.76494 0.999 D 0.67231 0.95 T 0.00054 -1.2181 9 0.72032 D 0.01 -13.0638 14.9654 0.71188 0.0:0.0:0.0:1.0 rs6135876;rs52799694;rs58763389;rs6135876 31 Q9NRC9 OTOR_HUMAN P 31 ENSP00000246081:L31P ENSP00000246081:L31P L + 2 0 OTOR 16677138 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 5.835000 0.69368 2.281000 0.76405 0.533000 0.62120 CTC NOVEL OTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078108.2 4 20.765879 KEEP 0 0 0 69 2297 TT 1 1 0 + 16 60 567 0 0 32.696476 558 60 20655 822 ENST00000246081.2 0.027875 1 OTOR 56914 __UNKNOWN__ __UNKNOWN__ 20 16730522 16730522 __UNKNOWN__ Intron SNP T T C rs6135878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:16730522T>C ENST00000246081.2 + 3 299 OTOR_ENST00000486129.1_3'UTR NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin NA NA cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605) extracellular region (GO:0005576) breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 agctttttcctgATTGCTATT 0.502 NA T||| 2633 0.525759 0.1823 0.6369 5008 , , NA 17265 0.7034 NA 0.5577 False NA ,,, NA NA NA 2504 0.6953 NA NA NA NA 0 T 1181,3225 410.9+/-335.5 175,831,1197 59 50 53 4.8 0 20 dbSNP_114 53 4508,4092 586.9+/-392.1 1187,2134,979 no intron OTOR NM_020157.2 1362,2965,2176 CC,CT,TT 47.5814,26.8044,43.7414 16730522 5689,7317 2203 4300 6503 SO:0001627 intron_variant AF233261 CCDS13124.1 20p12.1-p11.23 2005-11-14 ENSG00000125879 ENSG00000125879 56914 8517 protein-coding gene gene with protein product 606067 NA 10873378 Standard NM_020157 NA Approved MIAL, MIAL1, FDP uc002wpj.3 Q9NRC9 OTTHUMG00000031931 ENST00000246081.2:c.256-26T>C chr20.hg19:g.16730522T>C NA D3DW22|Q3MIU6 hg19 CCDS13124.1 0.02 5.988648 TCCxGAT COVERED NOVEL OTOR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078108.2 1 6.31872 KEEP 0 0 0 21 648 TT 0.999869 0.999869 0 + 10 60 354 0 0 23.164617 180 60 6780 238 ENST00000246081.2 0.052632 1 RRBP1 6238 __UNKNOWN__ __UNKNOWN__ 20 17594729 17594729 __UNKNOWN__ 3'UTR SNP G G A rs13734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17594729G>A ENST00000360807.4 - 0 3320 RRBP1_ENST00000246043.4_3'UTR|RRBP1_ENST00000377813.1_3'UTR|RRBP1_ENST00000377807.2_3'UTR|RRBP1_ENST00000470422.1_5'UTR NM_004587.2 NP_004578 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 NA NA osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CGGAAGTTGGGCCTGGATAAC 0.443 NA G||| 1242 0.248003 0.0076 0.2478 5008 , , NA 16941 0.5288 NA 0.1581 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037819 CCDS13128.1 20p12 2012-12-07 2012-12-07 ENSG00000125844 ENSG00000125844 6238 10448 protein-coding gene gene with protein product 601418 ribosome binding protein 1 (dog 180kD homolog), ribosome binding protein 1 homolog 180kDa (dog) NA 8812507 Standard NM_001042576 NM_001042576 NA Approved ES/130, hES uc002wpw.1 Q9P2E9 OTTHUMG00000031945 ENST00000360807.4:c.*98C>T chr20.hg19:g.17594729G>A NA A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476 hg19 CCDS13128.1 0.02 3.956609 TGGxCCT COVERED NOVEL RRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078124.4 1 11.401855 KEEP 0 0 0 38 1284 GG 1 1 0 - 8 60 274 0 0 17.933322 131 60 4749 191 ENST00000360807.4 0.057554 1 RRBP1 6238 __UNKNOWN__ __UNKNOWN__ 20 17596155 17596155 __UNKNOWN__ Missense_Mutation SNP C C A rs1132274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17596155C>A ENST00000360807.4 - 23 2960 c.2672G>T c.(2671-2673)cGg>cTg p.R891L RRBP1_ENST00000246043.4_Missense_Mutation_p.R1324L|RRBP1_ENST00000377813.1_Missense_Mutation_p.R1324L|RRBP1_ENST00000455029.2_Missense_Mutation_p.R665L|RRBP1_ENST00000377807.2_Missense_Mutation_p.R891L|RRBP1_ENST00000470422.1_5'UTR NM_004587.2 NP_004578 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1324 NA osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TTCTTGTAACCGACATGCCGA 0.607 NA C||| 1194 0.238419 0.0424 0.2305 5008 , , NA 17049 0.5238 NA 0.1342 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 C LEU/ARG,LEU/ARG 299,4107 159.6+/-192.1 14,271,1918 55 54 55 2672,2672 -0.6 0 20 dbSNP_86 55 1302,7298 251.8+/-278.1 95,1112,3093 yes missense,missense RRBP1 NM_001042576.1,NM_004587.2 102,102 109,1383,5011 AA,AC,CC 15.1395,6.7862,12.3097 benign,benign 891/978,891/978 17596155 1601,11405 2203 4300 6503 SO:0001583 missense AB037819 CCDS13128.1 20p12 2012-12-07 2012-12-07 ENSG00000125844 ENSG00000125844 6238 10448 protein-coding gene gene with protein product 601418 ribosome binding protein 1 (dog 180kD homolog), ribosome binding protein 1 homolog 180kDa (dog) NA 8812507 Standard NM_001042576 NM_001042576 NA Approved ES/130, hES uc002wpw.1 Q9P2E9 OTTHUMG00000031945 ENST00000360807.4:c.2672G>T chr20.hg19:g.17596155C>A ENSP00000354045:p.Arg891Leu NA A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476 hg19 CCDS13128.1 0.02 9.412082 AACxGAC COVERED 520 0.23809523809523808 26 0.052845528455284556 80 0.22099447513812154 303 0.5297202797202797 111 0.14643799472295516 C 11.38 1.621157 0.28889 0.067862 0.151395 ENSG00000125844 ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029 T;T;T;T;T 0.30981 1.51;1.51;1.51;1.51;1.51 5.4 -0.63 0.11530 . 0.287644 0.19266 N 0.118551 T 0.00012 0.0000 L 0.44542 1.39 0.80722 P 0.0 P;B 0.35923 0.528;0.093 B;B 0.31290 0.127;0.033 T 0.48068 -0.9067 9 0.39692 T 0.17 -17.2724 10.0058 0.41957 0.0:0.5909:0.0:0.4091 rs1132274;rs3192913;rs11551700;rs12479813;rs17135484;rs58969631;rs1132274 891;1324 Q9P2E9-3;Q9P2E9 .;RRBP1_HUMAN L 891;1324;891;1324;665 ENSP00000354045:R891L;ENSP00000367044:R1324L;ENSP00000367038:R891L;ENSP00000246043:R1324L;ENSP00000401206:R665L ENSP00000246043:R1324L R - 2 0 RRBP1 17544155 0.000000 0.05858 0.000000 0.03702 0.379000 0.30106 0.249000 0.18216 0.012000 0.14892 0.556000 0.70494 CGG NOVEL RRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078124.4 2 36.111437 KEEP 0 0 0 120 4110 CC 1 1 0 - 8 60 297 0 0 18.589435 213 60 7690 465 ENST00000360807.4 0.036199 1 RRBP1 6238 __UNKNOWN__ __UNKNOWN__ 20 17596219 17596219 __UNKNOWN__ Intron SNP C C T rs12479820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17596219C>T ENST00000360807.4 - 23 2941 RRBP1_ENST00000246043.4_Intron|RRBP1_ENST00000377813.1_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000470422.1_Intron NM_004587.2 NP_004578 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 NA NA osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GTCTTATAAACGGCTGTGCTG 0.607 NA c||| 1186 0.236821 0.0386 0.2334 5008 , , NA 17691 0.5238 NA 0.1332 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 T , 291,4111 13,265,1923 36 33 34 , -3.3 0 20 dbSNP_120 34 1257,7339 90,1077,3131 no intron,intron RRBP1 NM_001042576.1,NM_004587.2 , 103,1342,5054 TT,TC,CC 14.6231,6.6106,11.9095 , , 17596219 1548,11450 2201 4298 6499 SO:0001627 intron_variant AB037819 CCDS13128.1 20p12 2012-12-07 2012-12-07 ENSG00000125844 ENSG00000125844 6238 10448 protein-coding gene gene with protein product 601418 ribosome binding protein 1 (dog 180kD homolog), ribosome binding protein 1 homolog 180kDa (dog) NA 8812507 Standard NM_001042576 NM_001042576 NA Approved ES/130, hES uc002wpw.1 Q9P2E9 OTTHUMG00000031945 ENST00000360807.4:c.2653-45G>A chr20.hg19:g.17596219C>T NA A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476 hg19 CCDS13128.1 0.02 9.312005 AAAxGGC COVERED NOVEL RRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078124.4 1 25.113429 KEEP 0 1 30 94 3219 CC 1 1 0 - 13 60 490 0 0 33.737462 208 60 7271 415 ENST00000360807.4 0.058824 1 RRBP1 6238 __UNKNOWN__ __UNKNOWN__ 20 17597531 17597531 __UNKNOWN__ Intron SNP C C T rs2236252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17597531C>T ENST00000360807.4 - 21 2749 RRBP1_ENST00000246043.4_Intron|RRBP1_ENST00000377813.1_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000470422.1_Intron NM_004587.2 NP_004578 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 NA NA osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 CAGTCGCACACCCACCATGCT 0.562 NA C||| 1192 0.238019 0.0378 0.232 5008 , , NA 18728 0.5069 NA 0.1541 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 C , 298,4108 160.7+/-193.0 15,268,1920 68 55 59 , 0.8 0 20 dbSNP_98 59 1444,7156 275.7+/-291.9 120,1204,2976 no intron,intron RRBP1 NM_001042576.1,NM_004587.2 , 135,1472,4896 TT,TC,CC 16.7907,6.7635,13.3938 , , 17597531 1742,11264 2203 4300 6503 SO:0001627 intron_variant AB037819 CCDS13128.1 20p12 2012-12-07 2012-12-07 ENSG00000125844 ENSG00000125844 6238 10448 protein-coding gene gene with protein product 601418 ribosome binding protein 1 (dog 180kD homolog), ribosome binding protein 1 homolog 180kDa (dog) NA 8812507 Standard NM_001042576 NM_001042576 NA Approved ES/130, hES uc002wpw.1 Q9P2E9 OTTHUMG00000031945 ENST00000360807.4:c.2461-47G>A chr20.hg19:g.17597531C>T NA A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476 hg19 CCDS13128.1 0.02 11.686804 ACAxCCA COVERED NOVEL RRBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078124.4 2 24.33376 KEEP 0 0 0 81 2909 CC 1 1 0 - 13 60 473 0 0 30.923163 255 60 9528 457 ENST00000360807.4 0.048507 1 BANF2 140836 __UNKNOWN__ __UNKNOWN__ 20 17705664 17705664 __UNKNOWN__ Intron SNP G G A rs2296905 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17705664G>A ENST00000246090.5 + 3 259 BANF2_ENST00000545418.2_Intron|BANF2_ENST00000377805.3_Intron NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 CACTGCTGTCGCAGGAGATGG 0.577 NA G||| 1226 0.244808 0.1172 0.1816 5008 , , NA 20679 0.4504 NA 0.1918 False NA ,,, NA NA NA 2504 0.3047 NA NA NA NA 0 G ,, 605,3801 265.0+/-266.4 47,511,1645 113 100 104 ,, -3.8 0.1 20 dbSNP_100 104 1688,6912 308.5+/-308.9 155,1378,2767 no intron,intron,intron BANF2 NM_001014977.3,NM_001159495.1,NM_178477.4 ,, 202,1889,4412 AA,AG,GG 19.6279,13.7313,17.6303 ,, ,, 17705664 2293,10713 2203 4300 6503 SO:0001627 intron_variant BC054871 CCDS13129.1, CCDS54449.1 20p12.1 2007-12-17 2007-12-17 2007-12-17 ENSG00000125888 ENSG00000125888 140836 16172 protein-coding gene gene with protein product chromosome 20 open reading frame 179 C20orf179 NA Standard NM_178477 NM_178477 NA Approved dJ803K15.1, BAF-L, BAFL, BAF2 uc010zrs.1 Q9H503 OTTHUMG00000031949 ENST00000246090.5:c.-3-4G>A chr20.hg19:g.17705664G>A NA D3DW25|F5H3F6|Q7Z4M6 hg19 CCDS13129.1 0.02 8.755086 GTCxCAG COVERED NOVEL BANF2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102261.2 1 9.931208 KEEP 0 0 0 33 1114 GG 0.999998 0.999998 0 + 10 60 379 0 0 24.643898 229 60 7929 339 ENST00000246090.5 0.041841 1 BANF2 140836 __UNKNOWN__ __UNKNOWN__ 20 17705849 17705849 __UNKNOWN__ Intron SNP C C T rs2296907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17705849C>T ENST00000246090.5 + 3 388 BANF2_ENST00000545418.2_Intron|BANF2_ENST00000377805.3_Intron NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 TTTCTTCCCCCAGTCCTGCCA 0.502 NA C||| 2202 0.439696 0.469 0.2954 5008 , , NA 24027 0.6002 NA 0.339 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC054871 CCDS13129.1, CCDS54449.1 20p12.1 2007-12-17 2007-12-17 2007-12-17 ENSG00000125888 ENSG00000125888 140836 16172 protein-coding gene gene with protein product chromosome 20 open reading frame 179 C20orf179 NA Standard NM_178477 NM_178477 NA Approved dJ803K15.1, BAF-L, BAFL, BAF2 uc010zrs.1 Q9H503 OTTHUMG00000031949 ENST00000246090.5:c.126+53C>T chr20.hg19:g.17705849C>T NA D3DW25|F5H3F6|Q7Z4M6 hg19 CCDS13129.1 0.02 6.671754 CCCxAGT COVERED NOVEL BANF2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102261.2 0 5.416923 KEEP 0 0 0 18 620 CC 0.999859 0.999859 0 + 13 60 470 0 0 33.271014 157 60 5897 223 ENST00000246090.5 0.076471 1 BANF2 140836 __UNKNOWN__ __UNKNOWN__ 20 17716416 17716416 __UNKNOWN__ Missense_Mutation SNP C C G rs1053993 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:17716416C>G ENST00000246090.5 + 4 495 c.233C>G c.(232-234)aCt>aGt p.T78S BANF2_ENST00000545418.2_Missense_Mutation_p.T85S|BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000377805.3_Missense_Mutation_p.T78S NM_178477.4 NP_848572.3 Q9H503 BAFL_HUMAN barrier to autointegration factor 2 78 NA T -> S (in dbSNP:rs1053993). cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) large_intestine(1)|lung(1)|prostate(3)|skin(1) 6 GCCCAGCAGACTTCTCACTGC 0.537 NA G||| 1965 0.392372 0.5212 0.2536 5008 , , NA 17148 0.4861 NA 0.2604 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 G SER/THR,SER/THR,SER/THR 2165,2241 593.8+/-388.1 540,1085,578 178 148 158 233,254,233 3.4 0.1 20 dbSNP_86 158 2368,6232 703.0+/-405.3 324,1720,2256 yes missense,missense,missense BANF2 NM_178477.4,NM_001159495.1,NM_001014977.3 58,58,58 864,2805,2834 GG,GC,CC 27.5349,49.1375,34.8531 benign,benign,benign 78/91,85/98,78/91 17716416 4533,8473 2203 4300 6503 SO:0001583 missense BC054871 CCDS13129.1, CCDS54449.1 20p12.1 2007-12-17 2007-12-17 2007-12-17 ENSG00000125888 ENSG00000125888 140836 16172 protein-coding gene gene with protein product chromosome 20 open reading frame 179 C20orf179 NA Standard NM_178477 NM_178477 NA Approved dJ803K15.1, BAF-L, BAFL, BAF2 uc010zrs.1 Q9H503 OTTHUMG00000031949 ENST00000246090.5:c.233C>G chr20.hg19:g.17716416C>G ENSP00000246090:p.Thr78Ser NA D3DW25|F5H3F6|Q7Z4M6 hg19 CCDS13129.1 0.02 9.679855 AGAxTTC COVERED 817 0.3740842490842491 240 0.4878048780487805 105 0.2900552486187845 282 0.493006993006993 190 0.25065963060686014 G 10.90 1.481913 0.26598 0.491375 0.275349 ENSG00000125888 ENST00000545418;ENST00000377805;ENST00000246090 T;T;T 0.53640 0.61;0.61;0.61 5.43 3.36 0.38483 . 0.234635 0.35615 N 0.003098 T 0.00012 0.0000 . . . 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.45920 -0.9228 8 0.33940 T 0.23 . 7.6537 0.28363 0.0:0.316:0.4986:0.1855 rs1053993;rs3194554;rs1053993 85;78 F5H3F6;Q9H503 .;BAFL_HUMAN S 85;78;78 ENSP00000439128:T85S;ENSP00000367036:T78S;ENSP00000246090:T78S ENSP00000246090:T78S T + 2 0 BANF2 17664416 0.537000 0.26386 0.107000 0.21349 0.973000 0.67179 0.676000 0.25247 1.305000 0.44909 -0.216000 0.12614 ACT NOVEL BANF2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000102261.2 0 15.952353 KEEP 0 0 0 53 1926 CC 1 1 0 + 15 60 571 0 0 40.009362 221 60 8246 360 ENST00000246090.5 0.063559 1 OVOL2 58495 __UNKNOWN__ __UNKNOWN__ 20 18006012 18006012 __UNKNOWN__ Intron SNP G G A rs6080938 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18006012G>A ENST00000278780.6 - 4 754 OVOL2_ENST00000483661.1_Intron NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 NA NA angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 aggagttcgagaccagcctgg 0.547 NA G||| 1419 0.283347 0.0847 0.2334 5008 , , NA 14665 0.4117 NA 0.2644 False NA ,,, NA NA NA 2504 0.4744 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022284 CCDS13132.1 20p11.23 2013-10-17 2013-10-17 2005-05-31 ENSG00000125850 ENSG00000125850 58495 Zinc fingers, C2H2-type 15804 protein-coding gene gene with protein product zinc finger protein 339, ovo-like 2 (Drosophila) ZNF339 NA Standard NM_021220 NM_021220 NA Approved bA504H3.3, HOVO2 uc002wqi.1 Q9BRP0 OTTHUMG00000031960 ENST00000278780.6:c.512-416C>T chr20.hg19:g.18006012G>A NA Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0 hg19 CCDS13132.1 0.02 -0.052641 CGAxACC UNCOVERED NOVEL OVOL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078148.5 3 2.407469 KEEP 0 0 0 8 266 GG 0.99257 0.036492 0 - 4 60 150 0 0 15.249681 2 60 78 16 ENST00000278780.6 0.666667 0.036766 CSRP2BP 57325 __UNKNOWN__ __UNKNOWN__ 20 18131563 18131563 __UNKNOWN__ Silent SNP T T C rs2026022 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18131563T>C ENST00000377681.3 + 3 686 c.477T>C c.(475-477)caT>caC p.H159H CSRP2BP_ENST00000489634.2_Silent_p.H31H|CSRP2BP_ENST00000435364.3_Silent_p.H159H Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 159 NA chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TTGAGAAACATTGGACTTTTT 0.348 NA t||| 244 0.048722 0.0015 0.1239 5008 , , NA 18423 0.1468 NA 0.0 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 C 16,4390 24.3+/-50.5 0,16,2187 172 164 167 477 0.4 1 20 dbSNP_94 167 7,8593 5.7+/-21.5 0,7,4293 no coding-synonymous CSRP2BP NM_020536.4 0,23,6480 CC,CT,TT 0.0814,0.3631,0.1768 159/783 18131563 23,12983 2203 4300 6503 SO:0001819 synonymous_variant AF252257 CCDS13133.1 20p11.23 2012-06-06 ENSG00000149474 ENSG00000149474 57325 15904 protein-coding gene gene with protein product cysteine rich protein 2 binding protein, ATAC component 2 homolog (Drosophila) NA 9286703, 10924333, 19103755 Standard NM_020536 NR_028402 NA Approved CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14 uc021wbb.1 Q9H8E8 OTTHUMG00000031962 ENST00000377681.3:c.477T>C chr20.hg19:g.18131563T>C NA A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5 hg19 0.02 30.141846 ACAxTGG COVERED NOVEL CSRP2BP-007 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000254919.2 3 22.569527 KEEP 0 0 0 75 2431 TT 1 1 0 + 21 60 798 0 0 49.40783 640 60 23272 859 ENST00000377681.3 0.03177 1 CSRP2BP 57325 __UNKNOWN__ __UNKNOWN__ 20 18168935 18168935 __UNKNOWN__ 3'UTR SNP A A G rs41276424 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18168935A>G ENST00000377681.3 + 0 3387 CSRP2BP_ENST00000489634.2_3'UTR|CSRP2BP_ENST00000435364.3_3'UTR Q9H8E8 CSR2B_HUMAN CSRP2 binding protein NA NA chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966) Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634) histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 TAGACTGTCAATTAGGTTGTT 0.438 NA A||| 729 0.145567 0.1528 0.17 5008 , , NA 20751 0.1399 NA 0.1143 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF252257 CCDS13133.1 20p11.23 2012-06-06 ENSG00000149474 ENSG00000149474 57325 15904 protein-coding gene gene with protein product cysteine rich protein 2 binding protein, ATAC component 2 homolog (Drosophila) NA 9286703, 10924333, 19103755 Standard NM_020536 NR_028402 NA Approved CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14 uc021wbb.1 Q9H8E8 OTTHUMG00000031962 ENST00000377681.3:c.*832A>G chr20.hg19:g.18168935A>G NA A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5 hg19 0.02 6.719006 TCAxTTA COVERED NOVEL CSRP2BP-007 NOVEL not_organism_supported|basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000254919.2 0 8.724871 KEEP 0 0 0 29 910 AA 0.999997 0.999997 0 + 7 60 264 0 0 16.963268 169 60 6139 234 ENST00000377681.3 0.039773 1 DZANK1 55184 __UNKNOWN__ __UNKNOWN__ 20 18395988 18395988 __UNKNOWN__ Missense_Mutation SNP C C T rs6035037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18395988C>T ENST00000358866.6 - 10 1082 c.1060G>A c.(1060-1062)Ggc>Agc p.G354S DZANK1_ENST00000357236.4_Missense_Mutation_p.G240S|DZANK1_ENST00000262547.5_Missense_Mutation_p.G354S|DZANK1_ENST00000329494.5_Missense_Mutation_p.G356S|DZANK1_ENST00000487128.1_5'UTR Q9NVP4 DZAN1_HUMAN double zinc ribbon and ankyrin repeat domains 1 354 NA zinc ion binding (GO:0008270) NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 CCACACCAGCCGCAGAAGGAC 0.562 NA C||| 1251 0.2498 0.1573 0.2983 5008 , , NA 15727 0.1696 NA 0.3151 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 C SER/GLY 643,3185 54,535,1325 77 87 84 1060 3.5 1 20 dbSNP_114 84 2529,5711 368,1793,1959 yes missense DZANK1 NM_001099407.1 56 422,2328,3284 TT,TC,CC 30.6917,16.7973,26.2844 benign 354/753 18395988 3172,8896 1914 4120 6034 SO:0001583 missense AK001462 CCDS46582.1 20p11.23 2013-01-11 2011-10-03 2011-10-03 ENSG00000089091 ENSG00000089091 55184 Ankyrin repeat domain containing 15858 protein-coding gene gene with protein product ankyrin repeat domain 64 chromosome 20 open reading frame 12 C20orf84, C20orf12 NA Standard NM_001099407 NM_001099407 NA Approved FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64 uc002wqq.4 Q9NVP4 OTTHUMG00000031968 ENST00000358866.6:c.1060G>A chr20.hg19:g.18395988C>T ENSP00000351734:p.Gly354Ser NA B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442 hg19 CCDS46582.1 0.02 4.375504 AGCxGCA COVERED 515 0.2358058608058608 77 0.1565040650406504 98 0.27071823204419887 104 0.18181818181818182 236 0.3113456464379947 C 14.53 2.562631 0.45694 0.167973 0.306917 ENSG00000089091 ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000357236 T;T;T;T 0.61627 0.26;0.09;0.76;0.21 5.57 3.54 0.40534 . 0.634496 0.17261 N 0.180784 T 0.00012 0.0000 N 0.10972 0.075 0.50467 P 1.2199999999995548E-4 B;B;B 0.32031 0.267;0.352;0.063 B;B;B 0.24848 0.056;0.048;0.004 T 0.25467 -1.0131 9 0.46703 T 0.11 -6.1428 8.6331 0.33930 0.0:0.7597:0.1522:0.0881 rs6035037;rs17204022;rs52820643;rs61438457;rs6035037 373;240;354 B7Z631;Q9NVP4-4;Q9NVP4 .;.;DZAN1_HUMAN S 181;354;356;180;240 ENSP00000366857:G181S;ENSP00000262547:G354S;ENSP00000328866:G356S;ENSP00000349774:G240S ENSP00000262547:G354S G - 1 0 C20orf12 18343988 0.998000 0.40836 0.980000 0.43619 0.858000 0.48976 3.120000 0.50430 0.619000 0.30197 0.313000 0.20887 GGC NOVEL DZANK1-011 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471926.1 1 10.834959 KEEP 0 0 0 36 1236 CC 0.999999 0.999995 0 - 6 60 227 0 0 15.356907 108 60 3767 182 ENST00000358866.6 0.052632 0.999996 POLR3F 10621 __UNKNOWN__ __UNKNOWN__ 20 18464925 18464925 __UNKNOWN__ 3'UTR SNP A A C rs41276440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18464925A>C ENST00000377603.4 + 0 2054 POLR3F_ENST00000462997.1_3'UTR NM_006466.2 NP_006457.2 Q9H1D9 RPC6_HUMAN polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa NA NA defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383) cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654) DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899) breast(2) 2 TTCACTCTTTAACTCAAATGT 0.299 NA A||| 718 0.143371 0.087 0.1671 5008 , , NA 19615 0.2401 NA 0.0736 False NA ,,, NA NA NA 2504 0.1748 NA NA NA GBM(69;898 1468 19907 52011) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U93869 CCDS13135.1 20p11.23 2013-01-21 2002-08-29 ENSG00000132664 ENSG00000132664 10621 RNA polymerase subunits 15763 protein-coding gene gene with protein product RNA polymerase III C39 subunit polymerase (RNA) III (DNA directed) polypeptide F (39 kDa) NA 9171375 Standard NM_006466 NM_006466 NA Approved RPC39, RPC6 uc002wqv.3 Q9H1D9 OTTHUMG00000031971 ENST00000377603.4:c.*723A>C chr20.hg19:g.18464925A>C NA A8K4C7|O15319 hg19 CCDS13135.1 0.02 7.376597 TTTxACT COVERED NOVEL POLR3F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078170.2 0 9.025622 KEEP 0 0 0 30 918 AA 0.999997 0.999997 0 + 6 60 238 0 0 15.587502 152 60 5517 227 ENST00000377603.4 0.037975 1 SEC23B 10483 __UNKNOWN__ __UNKNOWN__ 20 18523002 18523002 __UNKNOWN__ Missense_Mutation SNP C C G rs2273526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18523002C>G ENST00000336714.3 + 13 1899 c.1467C>G c.(1465-1467)caC>caG p.H489Q SEC23B_ENST00000377465.1_Missense_Mutation_p.H489Q|SEC23B_ENST00000377475.3_Missense_Mutation_p.H489Q|SEC23B_ENST00000262544.2_Missense_Mutation_p.H489Q NM_006363.4|NM_032985.4|NM_032986.3 NP_006354.2|NP_116780.1|NP_116781.1 Q15437 SC23B_HUMAN Sec23 homolog B (S. cerevisiae) 489 NA H -> Q (in dbSNP:rs2273526). {ECO:0000269|PubMed:19621418, ECO:0000269|PubMed:8898360}. ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471) zinc ion binding (GO:0008270) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 ATTATCAGCACTCCAGCACCC 0.532 NA C||| 578 0.115415 0.1225 0.1628 5008 , , NA 19833 0.1597 NA 0.1113 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 C GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS,GLN/HIS 531,3875 240.3+/-251.1 34,463,1706 235 197 210 1467,1413,1467,1467,1467 0.6 1 20 dbSNP_100 210 1012,7588 217.0+/-255.8 52,908,3340 yes missense,missense,missense,missense,missense SEC23B NM_001172745.1,NM_001172746.1,NM_006363.4,NM_032985.4,NM_032986.3 24,24,24,24,24 86,1371,5046 GG,GC,CC 11.7674,12.0517,11.8638 probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging 489/768,471/750,489/768,489/768,489/768 18523002 1543,11463 2203 4300 6503 SO:0001583 missense X97065 CCDS13137.1 20p11.23 2010-02-09 2001-11-28 ENSG00000101310 ENSG00000101310 10483 10702 protein-coding gene gene with protein product 610512 Sec23 (S. cerevisiae) homolog B, congenital dyserythropoietic anemia, type II CDAN2 NA 8898360, 10329445, 19621418 Standard NM_032985 NA Approved CDA-II, CDAII, HEMPAS uc002wrb.2 Q15437 OTTHUMG00000031976 ENST00000336714.3:c.1467C>G chr20.hg19:g.18523002C>G ENSP00000338844:p.His489Gln NA D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7 hg19 CCDS13137.1 0.02 4.872727 GCAxTCC COVERED 321 0.14697802197802198 75 0.1524390243902439 63 0.17403314917127072 92 0.16083916083916083 91 0.12005277044854881 C 18.28 3.588170 0.66105 0.120517 0.117674 ENSG00000101310 ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465 T;T;T;T 0.76316 -1.01;-1.01;-1.01;-1.01 4.93 0.578 0.17391 Sec23/Sec24 beta-sandwich (1); 0.000000 0.85682 D 0.000000 T 0.01029 0.0034 M 0.93420 3.415 0.09310 P 0.9999999287442 P;B 0.42248 0.774;0.447 P;B 0.48089 0.566;0.316 T 0.50841 -0.8780 9 0.72032 D 0.01 -21.7711 8.1498 0.31134 0.0:0.5325:0.0:0.4675 rs2273526;rs59439358;rs2273526 471;489 B4DJW8;Q15437 .;SC23B_HUMAN Q 489 ENSP00000338844:H489Q;ENSP00000262544:H489Q;ENSP00000366695:H489Q;ENSP00000366685:H489Q ENSP00000262544:H489Q H + 3 2 SEC23B 18471002 0.969000 0.33509 1.000000 0.80357 0.940000 0.58332 0.078000 0.14761 0.272000 0.22027 0.655000 0.94253 CAC NOVEL SEC23B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078184.5 0 10.835322 KEEP 0 0 0 36 1294 CC 0.999999 0.999999 0 + 12 60 456 0 0 33.662071 125 60 4717 212 ENST00000336714.3 0.087591 1 C20orf78 100128496 __UNKNOWN__ __UNKNOWN__ 20 18806046 18806046 __UNKNOWN__ Intron SNP C C T rs6136525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18806046C>T ENST00000278779.4 - 2 135 NM_001242671.1 NP_001229600.1 Q9BR46 CT078_HUMAN chromosome 20 open reading frame 78 NA NA central_nervous_system(1) 1 GTTAGCTCAGCGATAACAATA 0.363 NA T||| 1940 0.38738 0.1498 0.3545 5008 , , NA 20383 0.6002 NA 0.3857 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL035563 CCDS56181.1 20p11.23 2011-10-07 ENSG00000149443 ENSG00000149443 100128496 16210 protein-coding gene gene with protein product NA 11780052 Standard NM_178462 NM_001242671 NA Approved dJ1068E13.1 uc002wrj.2 Q9BR46 OTTHUMG00000031982 ENST00000278779.4:c.34-54G>A chr20.hg19:g.18806046C>T NA hg19 CCDS56181.1 0.02 6.43931 CAGxGAT COVERED NOVEL C20orf78-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078191.2 1 2.215992 KEEP 0 1 33 19 632 CC 0.999863 0.999863 0 - 10 60 362 0 0 24.990551 141 60 5064 216 ENST00000278779.4 0.066225 1 C20orf78 100128496 __UNKNOWN__ __UNKNOWN__ 20 18810705 18810705 __UNKNOWN__ 5'UTR SNP C C T rs6136530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:18810705C>T ENST00000278779.4 - 0 92 NM_001242671.1 NP_001229600.1 Q9BR46 CT078_HUMAN chromosome 20 open reading frame 78 NA NA central_nervous_system(1) 1 TTTGCTTGGACCATGAAGGAA 0.478 NA A||| 1929 0.385184 0.1437 0.353 5008 , , NA 19270 0.5982 NA 0.3857 False NA ,,, NA NA NA 2504 0.5143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AL035563 CCDS56181.1 20p11.23 2011-10-07 ENSG00000149443 ENSG00000149443 100128496 16210 protein-coding gene gene with protein product NA 11780052 Standard NM_178462 NM_001242671 NA Approved dJ1068E13.1 uc002wrj.2 Q9BR46 OTTHUMG00000031982 ENST00000278779.4:c.-10G>A chr20.hg19:g.18810705C>T NA hg19 CCDS56181.1 0.02 25.850646 GGAxCAT COVERED NOVEL C20orf78-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078191.2 2 17.291723 KEEP 0 1 33 69 2426 CC 1 1 0 - 23 60 835 0 0 52.056645 582 60 21270 794 ENST00000278779.4 0.038017 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 19867042 19867042 __UNKNOWN__ IGR SNP C C T rs6132239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:19867042C>T NA NA RP1-122P22.2 (76723 upstream) : RIN2 (122 downstream) NA NA NA TGGGGCCACACGGAAAGCCAC 0.527 NA C||| 1435 0.286542 0.3979 0.219 5008 , , NA 17047 0.3105 NA 0.1918 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.19867042C>T NA hg19 0.02 4.029953 ACAxGGA COVERED NOVEL 0 5 13.241535 KEEP 0 0 0 44 1476 CC 1 1 0 5 60 186 0 0 11.589947 137 60 5053 204 0.035211 1 RIN2 54453 __UNKNOWN__ __UNKNOWN__ 20 19951534 19951534 __UNKNOWN__ Missense_Mutation SNP T T A rs3803981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:19951534T>A ENST00000255006.6 + 7 885 c.736T>A c.(736-738)Tcg>Acg p.S246T RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 197 NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 AACAGCCAAGTCGGAGGCTCA 0.438 NA T||| 798 0.159345 0.1679 0.1614 5008 , , NA 20069 0.2431 NA 0.1392 False NA ,,, NA NA NA 2504 0.0808 NA NA NA NA 0 T THR/SER,THR/SER 547,3323 39,469,1427 71 72 72 736,589 4.6 1 20 dbSNP_107 72 1255,6999 94,1067,2966 yes missense,missense RIN2 NM_001242581.1,NM_018993.3 58,58 133,1536,4393 AA,AT,TT 15.2047,14.1344,14.8631 benign,benign 246/945,197/896 19951534 1802,10322 1935 4127 6062 SO:0001583 missense AB060339 CCDS56182.1 20p11.22 2008-07-30 ENSG00000132669 ENSG00000132669 54453 18750 protein-coding gene gene with protein product 610222 NA 11733506, 1849280, 16423831 Standard NM_018993 NA Approved RASSF4 uc002wro.2 Q8WYP3 OTTHUMG00000031996 ENST00000255006.6:c.736T>A chr20.hg19:g.19951534T>A ENSP00000255006:p.Ser246Thr NA Q00425|Q5TFT8|Q9BQL3|Q9H071 hg19 CCDS56182.1 0.02 9.628333 AAGxCGG COVERED 395 0.18086080586080586 95 0.19308943089430894 54 0.14917127071823205 143 0.25 103 0.1358839050131926 T 6.996 0.553871 0.13374 0.141344 0.152047 ENSG00000132669 ENST00000255006 T 0.49139 0.79 5.66 4.56 0.56223 . 0.049002 0.85682 N 0.000000 T 0.00012 0.0000 N 0.01152 -0.98 0.09310 P 1.0 B 0.02656 0.0 B 0.01281 0.0 T 0.20042 -1.0287 8 . . . -15.9515 11.5874 0.50927 0.8613:0.0:0.0:0.1387 rs3803981;rs60446832;rs3803981 197 Q8WYP3 RIN2_HUMAN T 246 ENSP00000255006:S246T . S + 1 0 RIN2 19899534 1.000000 0.71417 0.994000 0.49952 0.971000 0.66376 6.837000 0.75354 0.960000 0.38005 -0.624000 0.04008 TCG NOVEL RIN2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078212.1 1 22.83694 KEEP 0 2 66 99 3129 TT 1 1 0 + 10 60 323 0 0 18.729161 277 60 9795 510 ENST00000255006.6 0.034843 1 RIN2 54453 __UNKNOWN__ __UNKNOWN__ 20 19970705 19970705 __UNKNOWN__ Silent SNP C C T rs2076584 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:19970705C>T ENST00000255006.6 + 9 2114 c.1965C>T c.(1963-1965)caC>caT p.H655H RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.H173H NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 606 VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}. NA endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737) GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 TCAAGGGGCACGTGGAGGCCA 0.522 NA C||| 2073 0.413938 0.3782 0.4784 5008 , , NA 20397 0.6806 NA 0.33 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 C , 1428,2382 266,896,743 23 25 24 1965,1818 -1.1 1 20 dbSNP_96 24 2495,5757 376,1743,2007 yes coding-synonymous,coding-synonymous RIN2 NM_001242581.1,NM_018993.3 , 642,2639,2750 TT,TC,CC 30.2351,37.4803,32.5236 , 655/945,606/896 19970705 3923,8139 1905 4126 6031 SO:0001819 synonymous_variant AB060339 CCDS56182.1 20p11.22 2008-07-30 ENSG00000132669 ENSG00000132669 54453 18750 protein-coding gene gene with protein product 610222 NA 11733506, 1849280, 16423831 Standard NM_018993 NA Approved RASSF4 uc002wro.2 Q8WYP3 OTTHUMG00000031996 ENST00000255006.6:c.1965C>T chr20.hg19:g.19970705C>T NA Q00425|Q5TFT8|Q9BQL3|Q9H071 hg19 CCDS56182.1 0.02 6.289483 GCAxGTG COVERED NOVEL RIN2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078212.1 1 16.785948 KEEP 0 1 26 65 2201 CC 1 1 0 + 7 60 251 0 0 15.416728 184 60 6665 297 ENST00000255006.6 0.036649 1 CRNKL1 51340 __UNKNOWN__ __UNKNOWN__ 20 20016345 20016345 __UNKNOWN__ 3'UTR SNP C C T rs12624987 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20016345C>T ENST00000536226.1 - 0 2681 CRNKL1_ENST00000377340.2_3'UTR|CRNKL1_ENST00000377327.4_3'UTR Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 tatgcacccaccaggtatatt 0.308 NA C||| 997 0.199081 0.1172 0.1844 5008 , , NA 19237 0.5883 NA 0.0288 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF255443 CCDS33446.1, CCDS63238.1, CCDS63239.1 20p11.2 2013-10-03 2013-10-03 ENSG00000101343 ENSG00000101343 51340 15762 protein-coding gene gene with protein product SYF3 pre-mRNA-splicing factor 610952 crooked neck (Drosophila Crn homolog)-like 1, Crn, crooked neck-like 1 (Drosophila), crooked neck pre-mRNA splicing factor-like 1 (Drosophila) NA Standard NM_016652 NA Approved CRN, CLF, SYF3, Clf1 uc002wrs.3 Q9BZJ0 OTTHUMG00000032000 ENST00000536226.1:c.*494G>A chr20.hg19:g.20016345C>T NA A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8 hg19 0.02 3.812967 CCAxCAG COVERED NOVEL CRNKL1-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000378075.1 0 10.534201 KEEP 0 0 0 35 1249 CC 0.999999 0.999998 0 - 11 60 402 0 0 28.57573 133 60 4867 214 ENST00000536226.1 0.076389 1 CRNKL1 51340 __UNKNOWN__ __UNKNOWN__ 20 20021301 20021301 __UNKNOWN__ Intron SNP T T C rs3828003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20021301T>C ENST00000536226.1 - 10 1429 CRNKL1_ENST00000377340.2_Intron|CRNKL1_ENST00000377327.4_Intron Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TAGAACTTGATGAGACATCTT 0.368 NA C||| 1993 0.397963 0.5431 0.3487 5008 , , NA 10023 0.7192 NA 0.1024 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 C 2038,2368 602.8+/-390.0 467,1104,632 85 86 86 -4.9 0 20 dbSNP_107 86 881,7717 776.7+/-407.7 44,793,3462 no intron CRNKL1 NM_016652.4 511,1897,4094 CC,CT,TT 10.2466,46.2551,22.4469 20021301 2919,10085 2203 4299 6502 SO:0001627 intron_variant AF255443 CCDS33446.1, CCDS63238.1, CCDS63239.1 20p11.2 2013-10-03 2013-10-03 ENSG00000101343 ENSG00000101343 51340 15762 protein-coding gene gene with protein product SYF3 pre-mRNA-splicing factor 610952 crooked neck (Drosophila Crn homolog)-like 1, Crn, crooked neck-like 1 (Drosophila), crooked neck pre-mRNA splicing factor-like 1 (Drosophila) NA Standard NM_016652 NA Approved CRN, CLF, SYF3, Clf1 uc002wrs.3 Q9BZJ0 OTTHUMG00000032000 ENST00000536226.1:c.1305+28A>G chr20.hg19:g.20021301T>C NA A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8 hg19 0.02 2.155917 TGAxGAG COVERED NOVEL CRNKL1-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000378075.1 0 6.319001 KEEP 0 0 0 21 656 TT 0.999869 0.997422 0 - 5 60 183 0 0 12.801583 67 60 2495 117 ENST00000536226.1 0.069444 0.997553 CRNKL1 51340 __UNKNOWN__ __UNKNOWN__ 20 20023174 20023174 __UNKNOWN__ Intron SNP C C G rs3828004 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20023174C>G ENST00000536226.1 - 8 1096 CRNKL1_ENST00000377340.2_Intron|CRNKL1_ENST00000377327.4_Intron Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GAAAGACAACCAGTTTAATAA 0.398 NA C||| 994 0.198482 0.1157 0.1844 5008 , , NA 20034 0.5883 NA 0.0278 False NA ,,, NA NA NA 2504 0.0941 NA NA NA NA 0 C 445,3961 214.5+/-233.7 27,391,1785 68 68 68 -1.5 0 20 dbSNP_107 68 295,8305 107.4+/-168.2 7,281,4012 no intron CRNKL1 NM_016652.4 34,672,5797 GG,GC,CC 3.4302,10.0999,5.6897 20023174 740,12266 2203 4300 6503 SO:0001627 intron_variant AF255443 CCDS33446.1, CCDS63238.1, CCDS63239.1 20p11.2 2013-10-03 2013-10-03 ENSG00000101343 ENSG00000101343 51340 15762 protein-coding gene gene with protein product SYF3 pre-mRNA-splicing factor 610952 crooked neck (Drosophila Crn homolog)-like 1, Crn, crooked neck-like 1 (Drosophila), crooked neck pre-mRNA splicing factor-like 1 (Drosophila) NA Standard NM_016652 NA Approved CRN, CLF, SYF3, Clf1 uc002wrs.3 Q9BZJ0 OTTHUMG00000032000 ENST00000536226.1:c.973-14G>C chr20.hg19:g.20023174C>G NA A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8 hg19 0.02 9.542962 AACxAGT COVERED NOVEL CRNKL1-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000378075.1 4 20.165717 KEEP 0 0 0 67 2389 CC 1 1 0 - 10 60 370 0 0 24.426031 195 60 7485 339 ENST00000536226.1 0.04878 1 CRNKL1 51340 __UNKNOWN__ __UNKNOWN__ 20 20032998 20032998 __UNKNOWN__ 5'UTR SNP T T C rs2255255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20032998T>C ENST00000536226.1 - 0 112 CRNKL1_ENST00000377340.2_Missense_Mutation_p.T158A|CRNKL1_ENST00000377327.4_Missense_Mutation_p.T146A Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 NA NA mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TCTGCAGCAGTCGACCTCTGG 0.607 NA C||| 2599 0.51897 0.4425 0.549 5008 , , NA 18253 0.7024 NA 0.4871 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 C ALA/THR 1944,2462 615.9+/-392.7 429,1086,688 41 42 41 472 -0.5 0 20 dbSNP_100 41 4087,4513 587.3+/-392.2 963,2161,1176 yes missense CRNKL1 NM_016652.4 58 1392,3247,1864 CC,CT,TT 47.5233,44.1217,46.3709 benign 158/849 20032998 6031,6975 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF255443 CCDS33446.1, CCDS63238.1, CCDS63239.1 20p11.2 2013-10-03 2013-10-03 ENSG00000101343 ENSG00000101343 51340 15762 protein-coding gene gene with protein product SYF3 pre-mRNA-splicing factor 610952 crooked neck (Drosophila Crn homolog)-like 1, Crn, crooked neck-like 1 (Drosophila), crooked neck pre-mRNA splicing factor-like 1 (Drosophila) NA Standard NM_016652 NA Approved CRN, CLF, SYF3, Clf1 uc002wrs.3 Q9BZJ0 OTTHUMG00000032000 ENST00000536226.1:c.-12A>G chr20.hg19:g.20032998T>C NA A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8 hg19 0.02 19.590254 CAGxCGA COVERED 1181 0.5407509157509157 216 0.43902439024390244 188 0.5193370165745856 402 0.7027972027972028 375 0.4947229551451187 C 3.383 -0.125925 0.06795 0.441217 0.475233 ENSG00000101343 ENST00000377327;ENST00000377340 T;T 0.28895 1.59;1.59 5.38 -0.469 0.12142 . 3.252220 0.01008 N 0.003785 T 0.00012 0.0000 N 0.08118 0 0.51482 P 7.500000000004725E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.43458 -0.9390 9 0.02654 T 1 11.7577 2.5872 0.04833 0.3895:0.3588:0.1141:0.1376 rs2255255;rs61548236;rs2255255 146;158 Q5JY65;Q9BZJ0 .;CRNL1_HUMAN A 146;158 ENSP00000366544:T146A;ENSP00000366557:T158A ENSP00000366544:T146A T - 1 0 CRNKL1 19980998 0.000000 0.05858 0.000000 0.03702 0.055000 0.15305 -0.451000 0.06795 -0.461000 0.06993 -0.119000 0.15052 ACT NOVEL CRNKL1-007 PUTATIVE basic|appris_principal protein_coding NA protein_coding OTTHUMT00000378075.1 1 54.449832 KEEP 0 0 0 181 5427 TT 1 1 0 - 32 60 1145 0 0 80.819688 391 60 13588 734 ENST00000536226.1 0.07565 1 CRNKL1 51340 __UNKNOWN__ __UNKNOWN__ 20 20033137 20033137 __UNKNOWN__ Missense_Mutation SNP T T A rs2255258 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20033137T>A ENST00000377340.2 - 2 364 c.333A>T c.(331-333)caA>caT p.Q111H CRNKL1_ENST00000377327.4_Missense_Mutation_p.Q99H NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 111 NA Q -> H (in dbSNP:rs2255258). mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245) catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GACCTCTCGCTTGAGCCGTGA 0.602 NA A||| 3510 0.700879 0.6172 0.755 5008 , , NA 20175 0.9375 NA 0.6143 False NA ,,, NA NA NA 2504 0.6207 NA NA NA NA 0 A HIS/GLN 2718,1688 507.6+/-366.7 820,1078,305 77 74 75 333 -1.8 0 20 dbSNP_100 75 4968,3632 519.5+/-379.5 1415,2138,747 yes missense CRNKL1 NM_016652.4 24 2235,3216,1052 AA,AT,TT 42.2326,38.3114,40.9042 benign 111/849 20033137 7686,5320 2203 4300 6503 SO:0001583 missense AF255443 CCDS33446.1, CCDS63238.1, CCDS63239.1 20p11.2 2013-10-03 2013-10-03 ENSG00000101343 ENSG00000101343 51340 15762 protein-coding gene gene with protein product SYF3 pre-mRNA-splicing factor 610952 crooked neck (Drosophila Crn homolog)-like 1, Crn, crooked neck-like 1 (Drosophila), crooked neck pre-mRNA splicing factor-like 1 (Drosophila) NA Standard NM_016652 NA Approved CRN, CLF, SYF3, Clf1 uc002wrs.3 Q9BZJ0 OTTHUMG00000032000 ENST00000377340.2:c.333A>T chr20.hg19:g.20033137T>A ENSP00000366557:p.Gln111His NA A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8 hg19 CCDS33446.1 0.02 32.952146 CGCxTGA COVERED 1574 0.7206959706959707 304 0.6178861788617886 260 0.7182320441988951 539 0.9423076923076923 471 0.6213720316622692 A 4.514 0.095451 0.08681 0.616886 0.577674 ENSG00000101343 ENST00000377327;ENST00000377340 T;T 0.34667 1.35;1.35 5.27 -1.8 0.07907 . 1.843420 0.03204 N 0.175204 T 0.00012 0.0000 N 0.08118 0 0.54753 P 1.399999999995849E-5 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.42716 -0.9435 9 0.02654 T 1 -0.113 0.3313 0.00319 0.2816:0.2316:0.1466:0.3403 rs2255258;rs58949621;rs2255258 99;111 Q5JY65;Q9BZJ0 .;CRNL1_HUMAN H 99;111 ENSP00000366544:Q99H;ENSP00000366557:Q111H ENSP00000366544:Q99H Q - 3 2 CRNKL1 19981137 0.000000 0.05858 0.000000 0.03702 0.054000 0.15201 -0.423000 0.07034 -0.422000 0.07405 -0.257000 0.10917 CAA NOVEL CRNKL1-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000127787.1 10 121.872818 KEEP 0 0 0 405 12897 TT 1 1 0 - 50 60 1850 0 0 129.49685 687 60 25365 1473 ENST00000377340.2 0.067843 1 C20orf26 0 __UNKNOWN__ __UNKNOWN__ 20 20033242 20033242 __UNKNOWN__ Intron SNP A A T rs2273057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20033242A>T ENST00000245957.5 + 1 40 CRNKL1_ENST00000377340.2_Silent_p.V76V|CRNKL1_ENST00000377327.4_Silent_p.V64V|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000377306.1_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN NA NA NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TGAGGTGGGTAACGCCGTGCT 0.687 NA A||| 2599 0.51897 0.4425 0.549 5008 , , NA 16435 0.7024 NA 0.4871 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 A , 1940,2466 537.0+/-374.6 428,1084,691 40 36 37 ,228 -1.6 0 20 dbSNP_100 37 4091,4507 547.9+/-385.3 961,2169,1169 yes intron,coding-synonymous C20orf26,CRNKL1 NM_015585.3,NM_016652.4 , 1389,3253,1860 TT,TA,AA 47.5808,44.0309,46.378 , ,76/849 20033242 6031,6973 2203 4299 6502 SO:0001627 intron_variant NA NA NA NA ENST00000245957.5:c.-37+7A>T chr20.hg19:g.20033242A>T NA A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7 hg19 CCDS33447.1 0.02 14.269894 GGTxACG COVERED NOVEL C20orf26-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078228.3 3 57.671962 KEEP 0 0 0 192 5341 AA 1 1 0 + 23 60 809 0 0 54.784336 336 60 11625 610 ENST00000245957.5 0.064067 1 C20orf26 0 __UNKNOWN__ __UNKNOWN__ 20 20033319 20033319 __UNKNOWN__ Intron SNP A A G rs2273058|rs200178595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20033319A>G ENST00000245957.5 + 1 40 CRNKL1_ENST00000377340.2_Missense_Mutation_p.F51L|CRNKL1_ENST00000377327.4_Missense_Mutation_p.F39L|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000377306.1_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN NA NA NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGCCTCCGGAACTGGGATGAC 0.662 NA A||| 2604 0.519968 0.4425 0.549 5008 , , NA 15897 0.7024 NA 0.492 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 A ,LEU/PHE 1938,2468 437,1064,702 22 21 21 ,151 0.1 0 20 dbSNP_100 21 4061,4521 953,2155,1183 yes intron,missense C20orf26,CRNKL1 NM_015585.3,NM_016652.4 ,22 1390,3219,1885 GG,GA,AA 47.32,43.9855,46.1888 ,benign ,51/849 20033319 5999,6989 2203 4291 6494 SO:0001627 intron_variant NA NA NA NA ENST00000245957.5:c.-37+84A>G chr20.hg19:g.20033319A>G NA A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7 hg19 CCDS33447.1 0.02 6.983669 GGAxCTG COVERED 1181 0.5407509157509157 216 0.43902439024390244 188 0.5193370165745856 402 0.7027972027972028 375 0.4947229551451187 A 11.63 1.697423 0.30142 0.439855 0.4732 ENSG00000101343 ENST00000377327;ENST00000377340 T;T 0.29655 1.56;1.56 3.83 0.0735 0.14391 . 5.188550 0.00559 N 0.000275 T 0.00012 0.0000 N 0.08118 0 0.58432 P 5.999999999950489E-6 B;B 0.14012 0.009;0.0 B;B 0.08055 0.003;0.0 T 0.42531 -0.9446 9 0.20046 T 0.44 7.2336 4.5654 0.12184 0.4938:0.3953:0.1109:0.0 rs2273058;rs61152998;rs2273058 39;51 Q5JY65;Q9BZJ0 .;CRNL1_HUMAN L 39;51 ENSP00000366544:F39L;ENSP00000366557:F51L ENSP00000366544:F39L F - 1 0 CRNKL1 19981319 0.004000 0.15560 0.000000 0.03702 0.002000 0.02628 1.307000 0.33516 -0.104000 0.12154 -0.313000 0.08912 TTC NOVEL C20orf26-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078228.3 2 32.750975 KEEP 0 0 0 109 3246 AA 1 1 0 + 11 60 419 0 0 29.171946 169 60 5785 349 ENST00000245957.5 0.061111 1 C20orf26 0 __UNKNOWN__ __UNKNOWN__ 20 20033380 20033380 __UNKNOWN__ Intron SNP A A G rs3817995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20033380A>G ENST00000245957.5 + 1 40 CRNKL1_ENST00000377340.2_Silent_p.S30S|CRNKL1_ENST00000377327.4_Intron|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000377306.1_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN NA NA NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CAAGGGAGTAAGAACGGAGCT 0.652 NA G||| 2599 0.51897 0.4425 0.549 5008 , , NA 16923 0.7024 NA 0.4871 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 0 G , 1853,2511 414,1025,743 13 14 14 ,90 2.6 0 20 dbSNP_107 14 4013,4523 971,2071,1226 no intron,coding-synonymous C20orf26,CRNKL1 NM_015585.3,NM_016652.4 , 1385,3096,1969 GG,GA,AA 47.0127,42.461,45.4729 , ,30/849 20033380 5866,7034 2182 4268 6450 SO:0001627 intron_variant NA NA NA NA ENST00000245957.5:c.-37+145A>G chr20.hg19:g.20033380A>G NA A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7 hg19 CCDS33447.1 0.02 4.522437 GTAxGAA COVERED NOVEL C20orf26-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078228.3 3 19.859195 KEEP 0 0 0 66 2058 AA 1 0.999999 0 + 6 60 227 0 0 15.219865 114 60 4229 239 ENST00000245957.5 0.05 0.999999 C20orf26 0 __UNKNOWN__ __UNKNOWN__ 20 20037222 20037222 __UNKNOWN__ Intron SNP T T C rs112458588|rs1509573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20037222T>C ENST00000245957.5 + 2 40 C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000377306.1_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN NA NA NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CAGTTTTGTGTGTATTATAAC 0.393 NA t||| 3513 0.701478 0.6195 0.755 5008 , , NA 18189 0.9375 NA 0.6143 False NA ,,, NA NA NA 2504 0.6207 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000245957.5:c.-36-40T>C chr20.hg19:g.20037222T>C NA A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7 hg19 CCDS33447.1 0.02 24.183408 GTGxGTA COVERED NOVEL C20orf26-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078228.3 1 20.156839 KEEP 0 0 0 67 2058 TT 1 1 0 + 34 60 1262 0 0 86.571558 533 60 18928 735 ENST00000245957.5 0.059965 1 C20orf26 0 __UNKNOWN__ __UNKNOWN__ 20 20050397 20050397 __UNKNOWN__ Intron SNP G G A rs60455649|rs200183 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20050397G>A ENST00000245957.5 + 3 219 C20orf26_ENST00000451767.2_Intron|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377309.2_Intron|C20orf26_ENST00000377306.1_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN NA NA NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AGATTTTCTCGTTCTTGTCTG 0.393 NA A||| 3927 0.784145 0.6573 0.8689 5008 , , NA 19136 0.9712 NA 0.7366 False NA ,,, NA NA NA 2504 0.7515 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000245957.5:c.144-1101G>A chr20.hg19:g.20050397G>A NA A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7 hg19 CCDS33447.1 0.02 14.776109 CTCxTTC COVERED NOVEL C20orf26-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078228.3 1 7.280756 KEEP 0 2 65 47 1574 GG 1 1 0 + 15 60 552 0 0 35.32508 343 60 11874 481 ENST00000245957.5 0.041899 1 INSM1 3642 __UNKNOWN__ __UNKNOWN__ 20 20350626 20350626 __UNKNOWN__ 3'UTR SNP T T C rs375842122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20350626T>C ENST00000310227.1 + 0 1862 NM_002196.2 NP_002187.1 Q01101 INSM1_HUMAN insulinoma-associated 1 NA NA adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) liver(1)|lung(3)|ovary(1)|prostate(1) 6 READ - Rectum adenocarcinoma(2;0.0649) ACTCTCCTTTTGACTCCTTTT 0.602 NA T||| 2 0.000399361 0.0 0.0 5008 , , NA 16771 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13143.1 20p11.2 2012-07-10 ENSG00000173404 ENSG00000173404 3642 6090 protein-coding gene gene with protein product 600010 NA 8188699, 16569215 Standard NM_002196 NM_002196 NA Approved IA-1, IA1 uc002wrx.3 Q01101 OTTHUMG00000032004 ENST00000310227.1:c.*182T>C chr20.hg19:g.20350626T>C NA hg19 CCDS13143.1 0.02 20.606258 TTTxGAC COVERED NOVEL INSM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078223.1 1 13.238922 KEEP 0 0 0 44 1350 TT 1 1 0 + 15 60 518 0 0 29.366033 517 70 18615 720 ENST00000310227.1 0.028195 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20373813 20373813 __UNKNOWN__ 3'UTR SNP C C T rs6035618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20373813C>T ENST00000202677.7 - 0 5749 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 TTTAGTGGCTCGGGGCAGAGG 0.567 NA C||| 486 0.0970447 0.1225 0.085 5008 , , NA 17934 0.2252 NA 0.0179 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 C 160,1592 7,146,723 20 18 19 -5 0 20 dbSNP_114 19 88,3894 0,88,1903 no utr-3 RALGAPA2 NM_020343.3 7,234,2626 TT,TC,CC 2.2099,9.1324,4.3251 20373813 248,5486 876 1991 2867 SO:0001624 3_prime_UTR_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.*120G>A chr20.hg19:g.20373813C>T NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 11.98015 GCTxGGG COVERED 207 0.09478021978021978 52 0.10569105691056911 25 0.06906077348066299 117 0.20454545454545456 13 0.017150395778364115 C 13.40 2.226452 0.39300 0.091324 0.022099 ENSG00000188559 ENST00000430436 . . . 5.5 -4.98 0.03019 . . . . . T 0.00039 0.0001 . . . 0.80722 P 0.0 . . . . . . T 0.17167 -1.0378 3 . . . . 7.3529 0.26703 0.0:0.4165:0.1884:0.3951 rs6035618;rs52819616;rs6035618 . . . K 1718 . . E - 1 0 RALGAPA2 20321813 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -2.832000 0.00743 -1.897000 0.01101 -2.110000 0.00354 GAG NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 3 10.824699 KEEP 0 0 0 36 1183 CC 0.999999 0.999999 0 - 10 60 354 0 0 20.534189 335 60 11333 445 ENST00000202677.7 0.028986 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20445839 20445839 __UNKNOWN__ Intron SNP A A T rs386813186|rs192273821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20445839A>T ENST00000202677.7 - 37 5503 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 acacacacacacacTCTCTCA 0.522 NA A||| 282 0.0563099 0.0915 0.0331 5008 , , NA 13716 0.1171 NA 0.0089 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.5495+7633T>A chr20.hg19:g.20445839A>T NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 1.950871 CACxCAC COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 11 12.337477 KEEP 0 0 0 41 1294 AA 1 0.999559 0 - 4 60 150 0 0 10.035723 75 60 2664 150 ENST00000202677.7 0.050633 0.999559 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20445841 20445841 __UNKNOWN__ Intron SNP A A T rs386813186|rs58599859 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20445841A>T ENST00000202677.7 - 37 5503 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 acacacacacacTCTCTCATA 0.527 NA A||| 364 0.0726837 0.1271 0.0447 5008 , , NA 13814 0.129 NA 0.0139 False NA ,,, NA NA NA 2504 0.0215 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.5495+7631T>A chr20.hg19:g.20445841A>T NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 1.826254 CACxCTC COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 11 12.934868 KEEP 0 0 0 43 1284 AA 1 0.999726 0 - 4 60 148 0 0 9.771925 78 60 2560 155 ENST00000202677.7 0.04878 0.999726 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20446102 20446102 __UNKNOWN__ Intron SNP C C T rs73287275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20446102C>T ENST00000202677.7 - 37 5503 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGAAGCAGCACGCTCCCTATG 0.567 NA OREG0025808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) T||| 305 0.0609026 0.0855 0.0317 5008 , , NA 17745 0.1458 NA 0.0119 False NA ,,, NA NA NA 2504 0.0112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.5495+7370G>A chr20.hg19:g.20446102C>T 740 Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 6.643665 GCAxGCT COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 2 6.320222 KEEP 0 0 0 21 721 CC 0.999869 0.999869 0 - 10 60 369 0 0 25.379115 152 60 5172 218 ENST00000202677.7 0.061728 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20484043 20484043 __UNKNOWN__ Silent SNP A A G rs2273528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20484043A>G ENST00000202677.7 - 35 5167 c.5160T>C c.(5158-5160)caT>caC p.H1720H NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 1720 Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}. NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GAGTGGAAACATGGAAAATCA 0.547 NA G||| 518 0.103435 0.1543 0.0562 5008 , , NA 15379 0.1637 NA 0.0447 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 G 491,3477 32,427,1525 89 90 89 5160 -4 0.9 20 dbSNP_100 89 332,7988 3,326,3831 no coding-synonymous RALGAPA2 NM_020343.3 35,753,5356 GG,GA,AA 3.9904,12.374,6.6976 1720/1874 20484043 823,11465 1984 4160 6144 SO:0001819 synonymous_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.5160T>C chr20.hg19:g.20484043A>G NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 6.44256 AACxTGG COVERED 245 0.11217948717948718 93 0.18902439024390244 23 0.06353591160220995 93 0.16258741258741258 36 0.047493403693931395 G 9.507 1.104786 0.20632 0.12374 0.039904 ENSG00000188559 ENST00000430436;ENST00000427175 . . . 5.85 -3.96 0.04106 . . . . . T 0.00144 0.0004 . . . 0.09310 P 1.0 . . . . . . T 0.34403 -0.9830 3 . . . . 16.9247 0.86173 0.6889:0.0:0.3111:0.0 rs2273528;rs17741349;rs2273528 . . . T 1537;131 . . M - 2 0 RALGAPA2 20432043 0.012000 0.17670 0.866000 0.34008 0.958000 0.62258 -0.625000 0.05534 -0.910000 0.03847 -0.735000 0.03563 ATG NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 2 6.954198 KEEP 0 1 28 33 1026 AA 0.999998 0.999998 0 - 9 60 320 0 0 21.205116 153 60 5701 244 ENST00000202677.7 0.055556 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20505658 20505658 __UNKNOWN__ Intron SNP C C G rs6075671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20505658C>G ENST00000202677.7 - 29 3701 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CAACTCACCACAGAAAGGTGA 0.463 NA G||| 543 0.108427 0.1725 0.0591 5008 , , NA 16177 0.1627 NA 0.0447 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.3694-116G>C chr20.hg19:g.20505658C>G NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 9.425824 CCAxAGA COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 1 8.728196 KEEP 0 0 0 29 1025 CC 0.999997 0.999997 0 - 9 60 342 0 0 22.401951 199 60 7585 265 ENST00000202677.7 0.043269 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20516515 20516515 __UNKNOWN__ Intron SNP T T C rs6137056 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20516515T>C ENST00000202677.7 - 26 3422 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GTTCTGACCATGTTCCAGGCA 0.443 NA T||| 193 0.0385383 0.0068 0.0259 5008 , , NA 16666 0.1429 NA 0.0129 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 T 6,1378 0,6,686 43 35 37 1.2 0 20 dbSNP_114 37 20,3158 0,20,1569 no intron RALGAPA2 NM_020343.3 0,26,2255 CC,CT,TT 0.6293,0.4335,0.5699 20516515 26,4536 692 1589 2281 SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.3415-68A>G chr20.hg19:g.20516515T>C NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 4.312149 CCAxGTT COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 0 11.133396 KEEP 0 0 0 37 1170 TT 1 1 0 - 9 60 325 0 0 22.179377 135 60 4994 226 ENST00000202677.7 0.0625 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20572029 20572029 __UNKNOWN__ Intron SNP A A G rs6132319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20572029A>G ENST00000202677.7 - 17 2211 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ACTTAAAACAACCGATTTAAA 0.308 NA A||| 188 0.0375399 0.003 0.0259 5008 , , NA 18381 0.1429 NA 0.0129 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.2204-71T>C chr20.hg19:g.20572029A>G NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 2.070384 ACAxCCG COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 0 4.209863 KEEP 0 0 0 14 387 AA 0.995343 0.981561 0 - 5 60 176 0 0 12.551695 54 60 1894 80 ENST00000202677.7 0.084746 0.986153 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20599985 20599985 __UNKNOWN__ Missense_Mutation SNP C C T rs6137081 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20599985C>T ENST00000202677.7 - 12 1482 c.1475G>A c.(1474-1476)aGc>aAc p.S492N NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 492 NA S -> N (in dbSNP:rs6137081). activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ACACCCTCTGCTCATTGCACT 0.493 NA C||| 192 0.0383387 0.0061 0.0259 5008 , , NA 12987 0.1429 NA 0.0129 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 C ASN/SER 14,3862 0,14,1924 85 80 81 1475 -0.5 1 20 dbSNP_114 81 58,8254 0,58,4098 yes missense RALGAPA2 NM_020343.3 46 0,72,6022 TT,TC,CC 0.6978,0.3612,0.5907 benign 492/1874 20599985 72,12116 1938 4156 6094 SO:0001583 missense AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.1475G>A chr20.hg19:g.20599985C>T ENSP00000202677:p.Ser492Asn NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 4.490651 CTGxTCA COVERED 104|104 0.047619047619047616|0.047619047619047616 7|7 0.014227642276422764|0.014227642276422764 7|7 0.019337016574585635|0.019337016574585635 80|80 0.13986013986013987|0.13986013986013987 10|10 0.013192612137203167|0.013192612137203167 C|C 9.802|9.802 1.180727|1.180727 0.21787|0.21787 0.003612|0.003612 0.006978|0.006978 ENSG00000188559|ENSG00000188559 ENST00000430436|ENST00000202677 .|D .|0.82893 .|-1.66 5.76|5.76 -0.53|-0.53 0.11898|0.11898 .|. .|0.226026 .|0.64402 .|N .|0.000011 T|T 0.01353|0.01353 0.0044|0.0044 L|L 0.40543|0.40543 1.245|1.245 0.29481|0.29481 P|P 0.856366|0.856366 .|B .|0.02656 .|0.0 .|B .|0.04013 .|0.001 T|T 0.28396|0.28396 -1.0045|-1.0045 4|9 .|0.30078 .|T .|0.28 .|. 11.8901|11.8901 0.52624|0.52624 0.0:0.4943:0.0:0.5057|0.0:0.4943:0.0:0.5057 rs6137081;rs52825746;rs6137081|rs6137081;rs52825746;rs6137081 .|492 .|Q2PPJ7 .|RGPA2_HUMAN T|N 309|492 .|ENSP00000202677:S492N .|ENSP00000202677:S492N A|S -|- 1|2 0|0 RALGAPA2|RALGAPA2 20547985|20547985 0.870000|0.870000 0.30015|0.30015 0.972000|0.972000 0.41901|0.41901 0.971000|0.971000 0.66376|0.66376 -0.006000|-0.006000 0.12833|0.12833 -0.316000|-0.316000 0.08690|0.08690 -0.150000|-0.150000 0.13652|0.13652 GCA|AGC NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 0 16.253102 KEEP 0 0 0 54 1931 CC 1 1 0 - 9 60 330 0 0 22.938055 126 60 4803 235 ENST00000202677.7 0.066667 1 RALGAPA2 57186 __UNKNOWN__ __UNKNOWN__ 20 20620408 20620408 __UNKNOWN__ Intron SNP T T C rs6082078 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:20620408T>C ENST00000202677.7 - 7 674 NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) NA NA activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123) endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ATCACTGAAATAGTCATAATT 0.363 NA T||| 385 0.076877 0.0598 0.0447 5008 , , NA 19624 0.1667 NA 0.0437 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 T 187,3469 4,179,1645 80 74 76 -3.7 0 20 dbSNP_114 76 325,7855 2,321,3767 no intron RALGAPA2 NM_020343.3 6,500,5412 CC,CT,TT 3.9731,5.1149,4.3258 20620408 512,11324 1828 4090 5918 SO:0001627 intron_variant AL078634, DQ310704 CCDS46584.1 20p11.23 2009-09-09 2009-09-09 2009-09-09 ENSG00000188559 ENSG00000188559 57186 16207 protein-coding gene gene with protein product chromosome 20 open reading frame 74 C20orf74 NA 16490346, 19520869 Standard NM_020343 NM_020343 NA Approved dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2 uc002wrz.3 Q2PPJ7 OTTHUMG00000032010 ENST00000202677.7:c.666+20A>G chr20.hg19:g.20620408T>C NA Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8 hg19 CCDS46584.1 0.02 2.08038 AAAxAGT COVERED NOVEL RALGAPA2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471941.1 0 5.716073 KEEP 0 0 0 19 562 TT 0.99986 0.999741 0 - 6 60 233 0 0 16.531812 86 60 3090 123 ENST00000202677.7 0.065217 0.999881 RP4-777D9.2 0 __UNKNOWN__ __UNKNOWN__ 20 21196190 21196190 __UNKNOWN__ RNA SNP A A T rs6137293 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:21196190A>T ENST00000591761.1 - 0 119 RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000443753.1_RNA NA NA NA ACTTTGAAATACTTTTTTTTT 0.323 NA A||| 485 0.096845 0.146 0.0144 5008 , , NA 17202 0.2331 NA 0.0 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 A ,, 471,3141 33,405,1368 27 27 27 ,, -1.4 0 20 dbSNP_114 27 10,8134 0,10,4062 no intron,intron,intron PLK1S1 NM_001163022.1,NM_001163023.1,NM_018474.4 ,, 33,415,5430 TT,TA,AA 0.1228,13.0399,4.0915 ,, ,, 21196190 481,11275 1806 4072 5878 NA NA NA NA ENST00000591761.1: chr20.hg19:g.21196190A>T NA hg19 0.02 5.975614 AATxCTT COVERED NOVEL RP4-777D9.2-002 KNOWN basic antisense NA antisense OTTHUMT00000078258.2 2 9.323707 KEEP 0 0 0 31 918 AA 0.999997 0.999997 0 - 7 60 250 0 0 15.67657 163 70 5510 232 ENST00000591761.1 0.041176 1 GZF1 64412 __UNKNOWN__ __UNKNOWN__ 20 23344955 23344955 __UNKNOWN__ Intron SNP T T G rs191575555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23344955T>G ENST00000338121.5 + 2 56 GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 NA NA branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TTAGTCCTTTTGCATCAGTGG 0.368 NA T||| 3 0.000599042 0.0 0.0 5008 , , NA 22411 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025447 CCDS13151.1 20p11.21 2013-01-09 2006-09-19 2006-09-19 ENSG00000125812 ENSG00000125812 64412 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 15808 protein-coding gene gene with protein product 613842 zinc finger protein 336 ZNF336 NA 14522971, 16049025 Standard NM_022482 NM_022482 NA Approved dJ322G13.2, ZBTB23 uc002wsz.3 Q9H116 OTTHUMG00000032069 ENST00000338121.5:c.-21-45T>G chr20.hg19:g.23344955T>G NA A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6 hg19 CCDS13151.1 0.02 14.45146 TTTxGCA COVERED NOVEL GZF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078333.1 3 29.180738 KEEP 0 0 0 97 2856 TT 1 1 0 + 13 60 508 0 0 33.063062 326 60 11660 496 ENST00000338121.5 0.038348 1 GZF1 64412 __UNKNOWN__ __UNKNOWN__ 20 23346515 23346515 __UNKNOWN__ Intron SNP C C G rs6137910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23346515C>G ENST00000338121.5 + 2 1441 GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 NA NA branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TTCGAGACAGCGTTTAGTTCT 0.582 NA C||| 632 0.126198 0.0197 0.1527 5008 , , NA 15417 0.3175 NA 0.0815 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK025447 CCDS13151.1 20p11.21 2013-01-09 2006-09-19 2006-09-19 ENSG00000125812 ENSG00000125812 64412 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 15808 protein-coding gene gene with protein product 613842 zinc finger protein 336 ZNF336 NA 14522971, 16049025 Standard NM_022482 NM_022482 NA Approved dJ322G13.2, ZBTB23 uc002wsz.3 Q9H116 OTTHUMG00000032069 ENST00000338121.5:c.1364+131C>G chr20.hg19:g.23346515C>G NA A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6 hg19 CCDS13151.1 0.02 2.470146 CAGxGTT COVERED NOVEL GZF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078333.1 0 5.415177 KEEP 0 0 0 18 562 CC 0.999859 0.986015 0 + 4 60 155 0 0 11.058962 55 60 1708 82 ENST00000338121.5 0.067797 0.986153 GZF1 64412 __UNKNOWN__ __UNKNOWN__ 20 23351288 23351288 __UNKNOWN__ 3'UTR SNP A A T rs17757228 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23351288A>T ENST00000338121.5 + 0 2423 GZF1_ENST00000377051.2_3'UTR|GZF1_ENST00000542987.1_3'UTR Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 NA NA branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GATCTCAGCTACTTTATTGAC 0.383 NA A||| 631 0.125998 0.0189 0.1527 5008 , , NA 21598 0.3175 NA 0.0815 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025447 CCDS13151.1 20p11.21 2013-01-09 2006-09-19 2006-09-19 ENSG00000125812 ENSG00000125812 64412 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 15808 protein-coding gene gene with protein product 613842 zinc finger protein 336 ZNF336 NA 14522971, 16049025 Standard NM_022482 NM_022482 NA Approved dJ322G13.2, ZBTB23 uc002wsz.3 Q9H116 OTTHUMG00000032069 ENST00000338121.5:c.*210A>T chr20.hg19:g.23351288A>T NA A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6 hg19 CCDS13151.1 0.02 4.209011 GCTxCTT COVERED NOVEL GZF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078333.1 1 9.026549 KEEP 0 0 0 30 911 AA 0.999997 0.999997 0 + 11 60 397 0 0 28.471765 122 60 4307 209 ENST00000338121.5 0.082707 1 GZF1 64412 __UNKNOWN__ __UNKNOWN__ 20 23352480 23352480 __UNKNOWN__ 3'UTR SNP A A G rs12349 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23352480A>G ENST00000338121.5 + 0 3615 GZF1_ENST00000377051.2_3'UTR Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 NA NA branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892) nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TAAGTTCCAGAATGAACATGT 0.323 NA G||| 3472 0.693291 0.9153 0.5908 5008 , , NA 18826 0.8879 NA 0.4583 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025447 CCDS13151.1 20p11.21 2013-01-09 2006-09-19 2006-09-19 ENSG00000125812 ENSG00000125812 64412 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 15808 protein-coding gene gene with protein product 613842 zinc finger protein 336 ZNF336 NA 14522971, 16049025 Standard NM_022482 NM_022482 NA Approved dJ322G13.2, ZBTB23 uc002wsz.3 Q9H116 OTTHUMG00000032069 ENST00000338121.5:c.*1402A>G chr20.hg19:g.23352480A>G NA A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6 hg19 CCDS13151.1 0.02 4.446974 CAGxATG COVERED NOVEL GZF1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078333.1 2 5.083783 KEEP 0 2 60 38 1230 AA 1 1 0 + 6 60 211 0 0 13.226164 134 60 4844 219 ENST00000338121.5 0.042857 1 NAPB 63908 __UNKNOWN__ __UNKNOWN__ 20 23356862 23356862 __UNKNOWN__ 3'UTR SNP G G A rs2024746 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23356862G>A ENST00000377026.4 - 0 2133 NAPB_ENST00000398425.3_3'UTR NM_001283018.1|NM_001283020.1|NM_022080.2 NP_001269947.1|NP_001269949.1|NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta NA NA intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249) extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044) endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) AAATTAATAGGATCAAGTTCA 0.299 NA A||| 3352 0.669329 0.8298 0.5793 5008 , , NA 20139 0.8899 NA 0.4573 False NA ,,, NA NA NA 2504 0.5072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022817 CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1 20p12.3-p11.21 2008-08-01 ENSG00000125814 ENSG00000125814 63908 15751 protein-coding gene gene with protein product 611270 NA 8455721 Standard NM_022080 NM_022080 NA Approved SNAP-BETA, SNAPB uc002wta.3 Q9H115 OTTHUMG00000032062 ENST00000377026.4:c.*1151C>T chr20.hg19:g.23356862G>A NA B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4 hg19 CCDS13152.1 0.02 3.722948 TAGxATC COVERED NOVEL NAPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078317.2 1 2.679016 KEEP 0 2 66 32 1092 GG 0.999998 0.999998 0 - 7 60 243 0 0 15.514005 136 60 4897 214 ENST00000377026.4 0.048951 1 NAPB 63908 __UNKNOWN__ __UNKNOWN__ 20 23356985 23356985 __UNKNOWN__ 3'UTR SNP A A T rs3827085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23356985A>T ENST00000377026.4 - 0 2010 NAPB_ENST00000398425.3_3'UTR NM_001283018.1|NM_001283020.1|NM_022080.2 NP_001269947.1|NP_001269949.1|NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta NA NA intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249) extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044) endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) CCTGAGAAACAAGTTGGGGTT 0.398 NA A||| 634 0.126597 0.0197 0.1527 5008 , , NA 18958 0.3194 NA 0.0815 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022817 CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1 20p12.3-p11.21 2008-08-01 ENSG00000125814 ENSG00000125814 63908 15751 protein-coding gene gene with protein product 611270 NA 8455721 Standard NM_022080 NM_022080 NA Approved SNAP-BETA, SNAPB uc002wta.3 Q9H115 OTTHUMG00000032062 ENST00000377026.4:c.*1028T>A chr20.hg19:g.23356985A>T NA B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4 hg19 CCDS13152.1 0.02 4.596282 AACxAGT COVERED NOVEL NAPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078317.2 1 8.725095 KEEP 0 0 0 29 884 AA 0.999997 0.999996 0 - 6 60 232 0 0 15.654224 117 60 4242 180 ENST00000377026.4 0.04878 0.999999 NAPB 63908 __UNKNOWN__ __UNKNOWN__ 20 23357725 23357725 __UNKNOWN__ 3'UTR SNP G G A rs6137913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23357725G>A ENST00000377026.4 - 0 1270 NAPB_ENST00000398425.3_3'UTR|NAPB_ENST00000432543.2_3'UTR NM_001283018.1|NM_001283020.1|NM_022080.2 NP_001269947.1|NP_001269949.1|NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta NA NA intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249) extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044) endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) TTAAACATAGGCTCCACAAAT 0.398 NA G||| 639 0.127596 0.0227 0.1527 5008 , , NA 20630 0.3194 NA 0.0815 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK022817 CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1 20p12.3-p11.21 2008-08-01 ENSG00000125814 ENSG00000125814 63908 15751 protein-coding gene gene with protein product 611270 NA 8455721 Standard NM_022080 NM_022080 NA Approved SNAP-BETA, SNAPB uc002wta.3 Q9H115 OTTHUMG00000032062 ENST00000377026.4:c.*288C>T chr20.hg19:g.23357725G>A NA B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4 hg19 CCDS13152.1 0.02 3.81846 TAGxCTC COVERED NOVEL NAPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078317.2 2 7.524362 KEEP 0 0 0 25 870 GG 0.999931 0.999931 0 - 6 60 211 0 0 13.368014 126 60 4594 176 ENST00000377026.4 0.045455 1 NAPB 63908 __UNKNOWN__ __UNKNOWN__ 20 23377642 23377642 __UNKNOWN__ Intron SNP C C T rs3736755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23377642C>T ENST00000377026.4 - 3 381 NAPB_ENST00000398425.3_Intron|NAPB_ENST00000472855.1_Intron|NAPB_ENST00000432543.2_Intron NM_001283018.1|NM_001283020.1|NM_022080.2 NP_001269947.1|NP_001269949.1|NP_071363.1 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment protein, beta NA NA intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249) extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044) endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 12 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) CTGACCTTAACGTTGAGGGAA 0.388 NA C||| 632 0.126198 0.0197 0.1527 5008 , , NA 17675 0.3175 NA 0.0815 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK022817 CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1 20p12.3-p11.21 2008-08-01 ENSG00000125814 ENSG00000125814 63908 15751 protein-coding gene gene with protein product 611270 NA 8455721 Standard NM_022080 NM_022080 NA Approved SNAP-BETA, SNAPB uc002wta.3 Q9H115 OTTHUMG00000032062 ENST00000377026.4:c.295+66G>A chr20.hg19:g.23377642C>T NA B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4 hg19 CCDS13152.1 0.02 2.024391 TAAxGTT COVERED NOVEL NAPB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078317.2 1 5.417784 KEEP 0 0 0 18 645 CC 0.999859 0.999585 0 - 5 60 189 0 0 12.977123 82 60 2982 131 ENST00000377026.4 0.057471 0.999726 CSTL1 128817 __UNKNOWN__ __UNKNOWN__ 20 23421101 23421101 __UNKNOWN__ Missense_Mutation SNP G G A rs17757442 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23421101G>A ENST00000246020.2 + 1 217 c.197G>A c.(196-198)aGg>aAg p.R66K CSTL1_ENST00000472140.1_3'UTR|CSTL1_ENST00000347397.1_Missense_Mutation_p.R66K Q9H114 CST1L_HUMAN cystatin-like 1 66 NA R -> K (in dbSNP:rs17757442). extracellular region (GO:0005576) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) CGAGTCCAGAGGCTAATTCGA 0.463 NA A||| 609 0.121605 0.0197 0.1499 5008 , , NA 22513 0.2996 NA 0.0785 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 A LYS/ARG 126,4280 815.2+/-416.2 2,122,2079 181 167 172 197 3.6 0.7 20 dbSNP_123 172 677,7923 788.9+/-407.6 32,613,3655 yes missense CSTL1 NM_138283.1 26 34,735,5734 AA,AG,GG 7.8721,2.8597,6.1741 benign 66/146 23421101 803,12203 2203 4300 6503 SO:0001583 missense AL096677 CCDS13153.1 20p11.21 2012-08-14 ENSG00000125823 ENSG00000125823 128817 15958 protein-coding gene gene with protein product NA 20565543 Standard NM_138283 NA Approved dJ322G13.4, CTES1 uc002wte.3 Q9H114 OTTHUMG00000032068 ENST00000246020.2:c.197G>A chr20.hg19:g.23421101G>A ENSP00000246020:p.Arg66Lys NA Q17RA8|Q64FF7 hg19 CCDS13153.1 0.02 19.462581 AGAxGCT COVERED 282 0.12912087912087913 16 0.032520325203252036 52 0.143646408839779 159 0.27797202797202797 55 0.07255936675461741 A 0.015 -1.548507 0.00926 0.028597 0.078721 ENSG00000125823 ENST00000347397;ENST00000538508;ENST00000246020 T;T 0.23552 1.9;1.9 4.68 3.59 0.41128 Proteinase inhibitor I25, cystatin (2); 0.125021 0.36740 N 0.002425 T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.41910 -0.9482 9 0.08179 T 0.78 -8.296 6.3146 0.21184 0.8077:0.0:0.1923:0.0 rs17757442;rs17757442 66 Q9H114 CST1L_HUMAN K 66;26;66 ENSP00000344907:R66K;ENSP00000246020:R66K ENSP00000246020:R66K R + 2 0 CSTL1 23369101 0.995000 0.38212 0.711000 0.30485 0.011000 0.07611 1.899000 0.39818 0.545000 0.28902 -0.254000 0.11334 AGG NOVEL CSTL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078328.1 4 16.252358 KEEP 0 0 0 54 1918 GG 1 1 0 + 22 60 842 0 0 57.090164 404 60 15137 581 ENST00000246020.2 0.051643 1 CSTL1 128817 __UNKNOWN__ __UNKNOWN__ 20 23424613 23424613 __UNKNOWN__ Missense_Mutation SNP T T C rs3746736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23424613T>C ENST00000246020.2 + 2 282 c.262T>C c.(262-264)Tgg>Cgg p.W88R CSTL1_ENST00000347397.1_Missense_Mutation_p.W88R Q9H114 CST1L_HUMAN cystatin-like 1 88 NA W -> R (in dbSNP:rs3746736). {ECO:0000269|PubMed:15489334}. extracellular region (GO:0005576) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) GAAGATTGGCTGGACCAAATG 0.512 NA C||| 3280 0.654952 0.857 0.6023 5008 , , NA 19368 0.7292 NA 0.494 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 C ARG/TRP 3464,942 358.4+/-314.3 1363,738,102 145 121 129 262 -0.6 0.9 20 dbSNP_107 129 4335,4265 575.1+/-390.2 1110,2115,1075 yes missense CSTL1 NM_138283.1 101 2473,2853,1177 CC,CT,TT 49.593,21.3799,40.0354 benign 88/146 23424613 7799,5207 2203 4300 6503 SO:0001583 missense AL096677 CCDS13153.1 20p11.21 2012-08-14 ENSG00000125823 ENSG00000125823 128817 15958 protein-coding gene gene with protein product NA 20565543 Standard NM_138283 NA Approved dJ322G13.4, CTES1 uc002wte.3 Q9H114 OTTHUMG00000032068 ENST00000246020.2:c.262T>C chr20.hg19:g.23424613T>C ENSP00000246020:p.Trp88Arg NA Q17RA8|Q64FF7 hg19 CCDS13153.1 0.02 14.058738 GGCxGGA COVERED 1444 0.6611721611721612 425 0.8638211382113821 222 0.6132596685082873 434 0.7587412587412588 363 0.4788918205804749 C 0.003 -2.488228 0.00161 0.786201 0.50407 ENSG00000125823 ENST00000347397;ENST00000246020 T;T 0.10192 2.9;2.9 4.06 -0.597 0.11653 Proteinase inhibitor I25, cystatin (2); 0.000000 0.41500 N 0.000870 T 0.00012 0.0000 N 0.00020 -2.765 0.58432 P 4.000000000004E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.20338 -1.0278 9 0.02654 T 1 -13.8332 6.2799 0.21001 0.4857:0.4075:0.0:0.1068 rs3746736;rs17683931;rs52791027;rs58676320;rs3746736 88 Q9H114 CST1L_HUMAN R 88 ENSP00000344907:W88R;ENSP00000246020:W88R ENSP00000246020:W88R W + 1 0 CSTL1 23372613 0.062000 0.20869 0.901000 0.35422 0.035000 0.12851 -0.270000 0.08584 -0.325000 0.08577 -0.929000 0.02709 TGG NOVEL CSTL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078328.1 1 9.928205 KEEP 0 0 0 33 1005 TT 0.999998 0.999998 0 + 20 60 724 0 0 49.922401 284 60 10685 412 ENST00000246020.2 0.065789 1 CSTL1 128817 __UNKNOWN__ __UNKNOWN__ 20 23424638 23424638 __UNKNOWN__ Missense_Mutation SNP C C T rs3746737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23424638C>T ENST00000246020.2 + 2 307 c.287C>T c.(286-288)aCg>aTg p.T96M CSTL1_ENST00000347397.1_Missense_Mutation_p.T96M Q9H114 CST1L_HUMAN cystatin-like 1 96 NA T -> M (in dbSNP:rs3746737). extracellular region (GO:0005576) cysteine-type endopeptidase inhibitor activity (GO:0004869) p.T96M(1) breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1) 14 Colorectal(13;0.0993)|Lung NSC(19;0.235) AGGAATGACACGAGCAATTCT 0.468 NA C||| 638 0.127396 0.0378 0.1542 5008 , , NA 20391 0.2996 NA 0.0795 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 1 Substitution - Missense(1) stomach(1) C MET/THR 189,4217 118.4+/-156.1 4,181,2018 137 116 123 287 -7.8 0 20 dbSNP_107 123 695,7905 171.9+/-222.7 33,629,3638 yes missense CSTL1 NM_138283.1 81 37,810,5656 TT,TC,CC 8.0814,4.2896,6.7969 probably-damaging 96/146 23424638 884,12122 2203 4300 6503 SO:0001583 missense AL096677 CCDS13153.1 20p11.21 2012-08-14 ENSG00000125823 ENSG00000125823 128817 15958 protein-coding gene gene with protein product NA 20565543 Standard NM_138283 NA Approved dJ322G13.4, CTES1 uc002wte.3 Q9H114 OTTHUMG00000032068 ENST00000246020.2:c.287C>T chr20.hg19:g.23424638C>T ENSP00000246020:p.Thr96Met NA Q17RA8|Q64FF7 hg19 CCDS13153.1 0.02 13.900861 ACAxGAG COVERED 291 0.13324175824175824 20 0.04065040650406504 53 0.1464088397790055 160 0.27972027972027974 58 0.07651715039577836 C 7.460 0.644517 0.14451 0.042896 0.080814 ENSG00000125823 ENST00000347397;ENST00000246020 T;T 0.27104 1.69;1.69 3.92 -7.84 0.01196 Proteinase inhibitor I25, cystatin (2); 2.031310 0.02546 N 0.095146 T 0.00012 0.0000 M 0.74258 2.255 0.80722 P 0.0 P 0.42649 0.786 B 0.37833 0.259 T 0.13255 -1.0516 9 0.48119 T 0.1 -9.4384 3.2703 0.06879 0.2021:0.1623:0.4632:0.1724 rs3746737;rs17830517;rs52797059;rs58774540;rs3746737 96 Q9H114 CST1L_HUMAN M 96 ENSP00000344907:T96M;ENSP00000246020:T96M ENSP00000246020:T96M T + 2 0 CSTL1 23372638 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.916000 0.01576 -1.909000 0.01085 -1.018000 0.02450 ACG NOVEL CSTL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078328.1 1 14.446991 KEEP 0 0 0 48 1684 CC 1 1 0 + 21 60 794 0 0 55.072748 324 60 11521 519 ENST00000246020.2 0.06087 1 CST11 140880 __UNKNOWN__ __UNKNOWN__ 20 23432528 23432528 __UNKNOWN__ Silent SNP A A G rs2236021 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23432528A>G ENST00000377009.3 - 2 291 c.258T>C c.(256-258)aaT>aaC p.N86N CST11_ENST00000377007.3_Intron NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 86 NA defense response to bacterium (GO:0042742) cytoplasm (GO:0005737)|nucleus (GO:0005634) cysteine-type endopeptidase inhibitor activity (GO:0004869) kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) GCATTTCCACATTCAGGTGAT 0.572 NA G||| 1384 0.276358 0.6044 0.1744 5008 , , NA 17088 0.3006 NA 0.0457 False NA ,,, NA NA NA 2504 0.1176 NA NA NA NA 0 G , 2195,2211 590.3+/-387.3 561,1073,569 114 98 103 ,258 -3.6 0 20 dbSNP_98 103 521,8079 796.3+/-407.5 17,487,3796 no intron,coding-synonymous CST11 NM_080830.2,NM_130794.1 , 578,1560,4365 GG,GA,AA 6.0581,49.8184,20.8827 , ,86/139 23432528 2716,10290 2203 4300 6503 SO:0001819 synonymous_variant AL096677 CCDS13154.1, CCDS13155.1 20p11.21 2012-08-14 ENSG00000125831 ENSG00000125831 140880 15959 protein-coding gene gene with protein product 609731 CST8L NA 20565543 Standard NM_130794 NM_080830 NA Approved dJ322G13.6, CTES2 uc002wtf.1 Q9H112 OTTHUMG00000032060 ENST00000377009.3:c.258T>C chr20.hg19:g.23432528A>G NA Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113 hg19 CCDS13155.1 0.02 8.777425 CACxTTC COVERED NOVEL CST11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078314.1 1 4.212341 KEEP 0 0 0 14 427 AA 0.995343 0.995343 0 - 8 60 293 0 0 18.136695 216 60 7891 275 ENST00000377009.3 0.035714 1 CST2 1470 __UNKNOWN__ __UNKNOWN__ 20 23805858 23805858 __UNKNOWN__ Missense_Mutation SNP C C T rs368512704 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23805858C>T ENST00000304725.2 - 2 401 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA 111 NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951) extracellular space (GO:0005615) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 TTCTGCAGTTCTGGCTGTTCA 0.562 NA c||| 8 0.00159744 0.0 0.0 5008 , , NA 19388 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Pancreas(193;496 3017 22514 29918) NA 0 316 231 260 NA NA 20 NA 23805858 2203 4300 6503 SO:0001583 missense M19671 CCDS13161.1 20p11.2 2007-11-29 ENSG00000170369 ENSG00000170369 1470 2474 protein-coding gene gene with protein product cystatin 2 123856 NA Standard NM_001322 NA Approved uc002wtq.1 P09228 OTTHUMG00000032086 ENST00000304725.2:c.331G>A chr20.hg19:g.23805858C>T ENSP00000307540:p.Glu111Lys NA Q9UCQ7 hg19 CCDS13161.1 0.02 8.924179 GTTxTGG COVERED . . . . . . . . . . C 11.18 1.562457 0.27915 . . ENSG00000170369 ENST00000304725 T 0.14022 2.54 2.25 -4.5 0.03493 Proteinase inhibitor I25, cystatin (2); 2.160440 0.03027 U 0.151527 T 0.09291 0.0229 L 0.27975 0.815 0.09310 N 1 B 0.21381 0.055 B 0.28709 0.093 T 0.33059 -0.9883 10 0.13853 T 0.58 . 6.5362 0.22355 0.0:0.5536:0.2736:0.1728 . 111 P09228 CYTT_HUMAN K 111 ENSP00000307540:E111K ENSP00000307540:E111K E - 1 0 CST2 23753858 0.000000 0.05858 0.000000 0.03702 0.650000 0.38633 -2.651000 0.00857 -0.725000 0.04901 0.306000 0.20318 GAA NOVEL CST2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078352.2 1 4.213636 KEEP 7 0 0 14 491 CC 0.994391 0.994391 0 - 14 60 520 0 0 35.748949 217 60 8071 278 ENST00000304725.2 0.060606 1 CST2 1470 __UNKNOWN__ __UNKNOWN__ 20 23807016 23807016 __UNKNOWN__ Intron SNP C C T rs80316588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:23807016C>T ENST00000304725.2 - 1 299 NM_001322.2 NP_001313.1 P09228 CYTT_HUMAN cystatin SA NA NA detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951) extracellular space (GO:0005615) cysteine-type endopeptidase inhibitor activity (GO:0004869) breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 10 TCTTATGGATCGGGCAACAAA 0.532 NA N||| 47 0.00938498 0.0272 0.0043 5008 , , NA 21532 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA Pancreas(193;496 3017 22514 29918) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M19671 CCDS13161.1 20p11.2 2007-11-29 ENSG00000170369 ENSG00000170369 1470 2474 protein-coding gene gene with protein product cystatin 2 123856 NA Standard NM_001322 NA Approved uc002wtq.1 P09228 OTTHUMG00000032086 ENST00000304725.2:c.228+53G>A chr20.hg19:g.23807016C>T NA Q9UCQ7 hg19 CCDS13161.1 0.02 17.415895 GATxGGG COVERED NOVEL CST2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078352.2 2 8.426696 KEEP 0 0 0 28 955 CC 0.999997 0.999997 0 - 16 60 540 0 0 32.576343 391 60 14235 563 ENST00000304725.2 0.039312 1 SYNDIG1 79953 __UNKNOWN__ __UNKNOWN__ 20 24645939 24645939 __UNKNOWN__ Intron SNP G G A rs2892217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:24645939G>A ENST00000376862.3 + 4 1251 NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091) cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803) breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 TGCTTGTTCCGACTTGCTTAC 0.557 NA A||| 3335 0.665935 0.9758 0.3919 5008 , , NA 19005 0.8671 NA 0.4085 False NA ,,, NA NA NA 2504 0.499 NA NA NA NA 0 A 3839,567 251.8+/-258.4 1681,477,45 73 84 80 -8.3 0 20 dbSNP_101 80 3578,5022 626.2+/-397.8 751,2076,1473 no intron SYNDIG1 NM_024893.1 2432,2553,1518 AA,AG,GG 41.6047,12.8688,42.9725 24645939 7417,5589 2203 4300 6503 SO:0001627 intron_variant AK024282 CCDS13164.1 20p11.21 2011-06-30 2011-06-30 2011-06-30 ENSG00000101463 ENSG00000101463 79953 15885 protein-coding gene gene with protein product interferon induced transmembrane protein domain containing 5, synapse differentiation induced gene 1 614311 chromosome 20 open reading frame 39, transmembrane protein 90B C20orf39, TMEM90B NA 20152115 Standard NM_024893 NM_024893 NA Approved FLJ14220, IFITMD5, SynDIG1 uc002wtw.1 Q9H7V2 OTTHUMG00000032104 ENST00000376862.3:c.619-43G>A chr20.hg19:g.24645939G>A NA Q6IA30|Q9H514 hg19 CCDS13164.1 0.02 15.312844 TCCxACT COVERED NOVEL SYNDIG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078376.1 4 8.192923 KEEP 0 2 59 48 1581 GG 1 1 0 + 14 60 517 0 0 32.800197 340 60 11450 500 ENST00000376862.3 0.039548 1 APMAP 57136 __UNKNOWN__ __UNKNOWN__ 20 24973383 24973383 __UNKNOWN__ 5'UTR SNP A A G rs6138456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:24973383A>G ENST00000217456.2 - 0 232 NM_020531.2 NP_065392.1 Q9HDC9 APMAP_HUMAN adipocyte plasma membrane associated protein NA NA biosynthetic process (GO:0009058) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020) arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844) NA GCCGGCTCAGACTCCAGGCCC 0.726 NA G||| 417 0.0832668 0.0681 0.1052 5008 , , NA 15181 0.0605 NA 0.1183 False NA ,,, NA NA NA 2504 0.0757 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AB033767 CCDS13166.1 20p11.2 2012-07-20 2012-07-20 2012-07-20 ENSG00000101474 ENSG00000101474 57136 13238 protein-coding gene gene with protein product 615884 chromosome 20 open reading frame 3 C20orf3 NA 10945474, 11583587, 20552250 Standard NM_020531 NM_020531 NA Approved BSCv uc002wty.3 Q9HDC9 OTTHUMG00000032107 ENST00000217456.2:c.-59T>C chr20.hg19:g.24973383A>G NA A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2 hg19 CCDS13166.1 0.02 4.538052 CAGxCTC COVERED NOVEL APMAP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078380.2 3 36.404486 KEEP 0 0 0 121 3741 AA 1 1 0 - 7 60 246 0 0 15.879353 134 60 4689 313 ENST00000217456.2 0.049645 1 ACSS1 84532 __UNKNOWN__ __UNKNOWN__ 20 24986965 24986965 __UNKNOWN__ 3'UTR SNP C C T rs2294980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:24986965C>T ENST00000323482.4 - 0 3582 ACSS1_ENST00000537502.1_3'UTR|ACSS1_ENST00000484396.1_5'UTR NM_001252675.1|NM_032501.3 NP_001239604.1|NP_115890.2 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 NA NA acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) mitochondrial matrix (GO:0005759) acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACATGGAAAGCTAAGCCATTT 0.473 NA C||| 4 0.000798722 0.0 0.0 5008 , , NA 19358 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13167.1, CCDS58764.1, CCDS58765.1 20p11.23-p11.21 2012-07-13 2005-09-08 2005-09-08 ENSG00000154930 ENSG00000154930 84532 6.2.1.1 Acyl-CoA synthetase family 16091 protein-coding gene gene with protein product 614355 acetyl-Coenzyme A synthetase 2 (AMP forming)-like ACAS2L NA Standard NM_032501 NM_032501 NA Approved dJ568C11.3, AceCS2L, MGC33843 uc002wub.3 Q9NUB1 OTTHUMG00000032112 ENST00000323482.4:c.*1433G>A chr20.hg19:g.24986965C>T NA B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28 hg19 CCDS13167.1 0.02 8.040313 AAGxTAA COVERED NOVEL ACSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078386.2 1 17.756916 KEEP 0 0 0 59 2106 CC 1 1 0 - 11 60 389 1 0 24.749832 230 60 8475 356 ENST00000323482.4 0.045643 1 ACSS1 84532 __UNKNOWN__ __UNKNOWN__ 20 25011639 25011639 __UNKNOWN__ Intron SNP A A G rs60849220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25011639A>G ENST00000323482.4 - 3 511 ACSS1_ENST00000537502.1_Silent_p.F46F|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Intron NM_001252675.1|NM_032501.3 NP_001239604.1|NP_115890.2 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 NA NA acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) mitochondrial matrix (GO:0005759) acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GAGGAGGGCCAAAATGCAGAG 0.517 NA A||| 471 0.0940495 0.0189 0.1326 5008 , , NA 21738 0.0823 NA 0.1799 False NA ,,, NA NA NA 2504 0.092 NA NA NA NA 0 A 223,4183 7,209,1987 24 22 22 2.1 0 20 dbSNP_129 22 1569,7031 146,1277,2877 no intron ACSS1 NM_032501.2 153,1486,4864 GG,GA,AA 18.2442,5.0613,13.7783 25011639 1792,11214 2203 4300 6503 SO:0001627 intron_variant CCDS13167.1, CCDS58764.1, CCDS58765.1 20p11.23-p11.21 2012-07-13 2005-09-08 2005-09-08 ENSG00000154930 ENSG00000154930 84532 6.2.1.1 Acyl-CoA synthetase family 16091 protein-coding gene gene with protein product 614355 acetyl-Coenzyme A synthetase 2 (AMP forming)-like ACAS2L NA Standard NM_032501 NM_032501 NA Approved dJ568C11.3, AceCS2L, MGC33843 uc002wub.3 Q9NUB1 OTTHUMG00000032112 ENST00000323482.4:c.432-45T>C chr20.hg19:g.25011639A>G NA B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28 hg19 CCDS13167.1 0.02 11.10647 GCCxAAA COVERED NOVEL ACSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078386.2 3 22.259707 KEEP 0 0 0 74 2209 AA 1 1 0 - 10 60 353 0 0 21.578917 256 60 9325 397 ENST00000323482.4 0.037594 1 ACSS1 84532 __UNKNOWN__ __UNKNOWN__ 20 25038484 25038484 __UNKNOWN__ Silent SNP G G T rs66817095 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25038484G>T ENST00000323482.4 - 1 334 c.255C>A c.(253-255)acC>acA p.T85T ACSS1_ENST00000376726.3_Silent_p.T85T|ACSS1_ENST00000432802.2_Silent_p.T85T NM_001252675.1|NM_032501.3 NP_001239604.1|NP_115890.2 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 85 NA acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) mitochondrial matrix (GO:0005759) acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTGGTAGGGGGTGTCCCACA 0.662 NA G||| 959 0.191494 0.0098 0.2032 5008 , , NA 10301 0.4812 NA 0.1829 False NA ,,, NA NA NA 2504 0.1391 NA NA NA NA 0 G 158,4248 101.6+/-140.2 2,154,2047 42 47 45 255 1.5 1 20 dbSNP_130 45 1447,7153 267.5+/-287.3 106,1235,2959 no coding-synonymous ACSS1 NM_032501.2 108,1389,5006 TT,TG,GG 16.8256,3.586,12.3405 85/690 25038484 1605,11401 2203 4300 6503 SO:0001819 synonymous_variant CCDS13167.1, CCDS58764.1, CCDS58765.1 20p11.23-p11.21 2012-07-13 2005-09-08 2005-09-08 ENSG00000154930 ENSG00000154930 84532 6.2.1.1 Acyl-CoA synthetase family 16091 protein-coding gene gene with protein product 614355 acetyl-Coenzyme A synthetase 2 (AMP forming)-like ACAS2L NA Standard NM_032501 NM_032501 NA Approved dJ568C11.3, AceCS2L, MGC33843 uc002wub.3 Q9NUB1 OTTHUMG00000032112 ENST00000323482.4:c.255C>A chr20.hg19:g.25038484G>T NA B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28 hg19 CCDS13167.1 0.02 8.328856 GGGxGTG COVERED NOVEL ACSS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078386.2 2 26.216064 KEEP 0 4 124 131 4471 GG 1 1 0 - 15 60 475 0 0 31.449171 192 60 7100 449 ENST00000323482.4 0.072464 1 VSX1 30813 __UNKNOWN__ __UNKNOWN__ 20 25059442 25059442 __UNKNOWN__ Intron SNP C C T rs6138482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25059442C>T ENST00000429762.3 - 3 662 VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000376707.3_Missense_Mutation_p.R217H|VSX1_ENST00000376709.4_Intron NM_001256272.1 NP_001243201.1 Q9NZR4 VSX1_HUMAN visual system homeobox 1 NA NA neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601) nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|large_intestine(3)|lung(2) 6 ATCTTTGGAGCGGAGAAAAGG 0.527 NA c||| 1080 0.215655 0.0098 0.2147 5008 , , NA 17699 0.5268 NA 0.2137 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 T ,HIS/ARG 191,4215 120.4+/-158.0 4,183,2016 204 203 203 ,650 -4.9 0 20 dbSNP_114 203 1700,6900 312.0+/-310.6 161,1378,2761 yes intron,missense VSX1 NM_014588.4,NM_199425.1 ,29 165,1561,4777 TT,TC,CC 19.7674,4.335,14.5394 , ,217/240 25059442 1891,11115 2203 4300 6503 SO:0001627 intron_variant AF176797 CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1 20p11.21 2014-02-14 2007-07-12 ENSG00000100987 ENSG00000100987 30813 Homeoboxes / PRD class 12723 protein-coding gene gene with protein product 605020 posterior polymorphous corneal dystrophy, visual system homeobox 1 homolog, CHX10-like (zebrafish) PPCD NA 10673340 Standard NM_001256272 NA Approved PPD, PPCD1 uc002wuf.4 Q9NZR4 OTTHUMG00000032111 ENST00000429762.3:c.627+22G>A chr20.hg19:g.25059442C>T NA B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27 hg19 CCDS58767.1 0.02 8.593168 GAGxGGA COVERED 578 0.26465201465201466 14 0.028455284552845527 86 0.23756906077348067 321 0.5611888111888111 157 0.20712401055408972 c 11.23 1.577349 0.28180 0.04335 0.197674 ENSG00000100987 ENST00000376707 D 0.93366 -3.21 4.23 -4.87 0.03123 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.13594 0.008 B 0.04013 0.001 T 0.39722 -0.9600 7 0.87932 D 0 . 0.4641 0.00521 0.3084:0.1187:0.2286:0.3443 rs6138482;rs58752432;rs6138482 217 Q9NZR4-2 . H 217 ENSP00000365897:R217H ENSP00000365897:R217H R - 2 0 VSX1 25007442 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.065000 0.11617 -1.182000 0.02727 -1.590000 0.00845 CGC NOVEL VSX1-003 KNOWN basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000334157.2 1 15.348442 KEEP 0 0 0 51 1740 CC 1 1 0 - 19 60 676 0 0 47.619328 227 60 8084 355 ENST00000429762.3 0.077236 1 ENTPD6 955 __UNKNOWN__ __UNKNOWN__ 20 25187213 25187213 __UNKNOWN__ Missense_Mutation SNP G G A rs2076559 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25187213G>A ENST00000376652.4 + 2 204 c.41G>A c.(40-42)aGc>aAc p.S14N ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000433259.2_Missense_Mutation_p.S14N|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S14N O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 14 NA S -> N (in dbSNP:rs2076559). {ECO:0000269|PubMed:14529283}. response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 AGAAAAACGAGCTACATTTTT 0.403 NA G||| 1562 0.311901 0.0983 0.2349 5008 , , NA 20423 0.5903 NA 0.3469 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 G ,ASN/SER 621,3785 269.5+/-269.1 42,537,1624 104 97 100 ,41 -0.2 0 20 dbSNP_96 100 2767,5833 439.7+/-359.3 431,1905,1964 yes intron,missense ENTPD6 NM_001114089.1,NM_001247.2 ,46 473,2442,3588 AA,AG,GG 32.1744,14.0944,26.0495 ,benign ,14/485 25187213 3388,9618 2203 4300 6503 SO:0001583 missense AF039916 CCDS13170.1, CCDS46586.1 20p11.21 2010-06-24 2010-06-24 ENSG00000197586 ENSG00000197586 955 3368 protein-coding gene gene with protein product 603160 interleukin 6 signal transducer-2 CD39L2, IL6ST2 NA 9676430 Standard NM_001247 NA Approved NTPDase-6, dJ738P15.3 uc002wuj.2 O75354 OTTHUMG00000032116 ENST00000376652.4:c.41G>A chr20.hg19:g.25187213G>A ENSP00000365840:p.Ser14Asn NA A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1 hg19 CCDS13170.1 0.02 28.439387 CGAxCTA COVERED 755 0.3456959706959707 59 0.11991869918699187 94 0.2596685082872928 344 0.6013986013986014 258 0.3403693931398417 G 8.922 0.961415 0.18583 0.140944 0.321744 ENSG00000197586 ENST00000360031;ENST00000376652;ENST00000433259;ENST00000435520;ENST00000425813 T;T;T;T;T 0.34275 2.18;2.18;2.05;1.37;2.35 2.98 -0.162 0.13367 . . . . . T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 B;B;B;B;B 0.30482 0.281;0.18;0.18;0.18;0.18 B;B;B;B;B 0.22152 0.038;0.038;0.038;0.017;0.017 T 0.44283 -0.9338 8 0.19590 T 0.45 . 3.4656 0.07549 0.2556:0.2143:0.5302:0.0 rs2076559;rs11539327;rs17829504;rs52811761;rs60671666;rs2076559 14;14;14;14;14 E7EP89;Q5QPI9;D3DW49;Q5QPJ2;O75354 .;.;.;.;ENTP6_HUMAN N 14 ENSP00000353131:S14N;ENSP00000365840:S14N;ENSP00000401895:S14N;ENSP00000398844:S14N;ENSP00000390646:S14N ENSP00000353131:S14N S + 2 0 ENTPD6 25135213 0.001000 0.12720 0.000000 0.03702 0.007000 0.05969 0.214000 0.17541 0.004000 0.14682 -0.172000 0.13284 AGC NOVEL ENTPD6-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078414.2 1 22.58122 KEEP 0 3 100 110 4024 GG 1 1 0 + 17 60 617 0 0 34.906799 701 60 26801 1024 ENST00000376652.4 0.023677 1 ENTPD6 955 __UNKNOWN__ __UNKNOWN__ 20 25190598 25190598 __UNKNOWN__ Intron SNP A A G rs1007707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25190598A>G ENST00000376652.4 + 4 616 ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000360031.2_Intron O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) NA NA response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 GTTCAACTGCAGAATGTGTTC 0.483 NA G||| 3166 0.632188 0.7345 0.3818 5008 , , NA 15187 0.9107 NA 0.4861 False NA ,,, NA NA NA 2504 0.5348 NA NA NA NA 0 G , 3013,1393 459.2+/-352.2 1009,995,199 121 108 112 , -3.2 0 20 dbSNP_86 112 4081,4519 594.0+/-393.2 953,2175,1172 no intron,intron ENTPD6 NM_001114089.1,NM_001247.2 , 1962,3170,1371 GG,GA,AA 47.4535,31.616,45.4559 , , 25190598 7094,5912 2203 4300 6503 SO:0001627 intron_variant AF039916 CCDS13170.1, CCDS46586.1 20p11.21 2010-06-24 2010-06-24 ENSG00000197586 ENSG00000197586 955 3368 protein-coding gene gene with protein product 603160 interleukin 6 signal transducer-2 CD39L2, IL6ST2 NA 9676430 Standard NM_001247 NA Approved NTPDase-6, dJ738P15.3 uc002wuj.2 O75354 OTTHUMG00000032116 ENST00000376652.4:c.453+37A>G chr20.hg19:g.25190598A>G NA A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1 hg19 CCDS13170.1 0.02 4.047746 TGCxGAA COVERED NOVEL ENTPD6-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078414.2 0 4.245714 KEEP 0 1 34 26 770 AA 0.999988 0.999988 0 + 10 60 332 0 0 22.339425 130 60 4710 184 ENST00000376652.4 0.071429 1 ENTPD6 955 __UNKNOWN__ __UNKNOWN__ 20 25207074 25207074 __UNKNOWN__ 3'UTR SNP T T C rs7453 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25207074T>C ENST00000376652.4 + 0 2459 ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_3'UTR|ENTPD6_ENST00000433259.2_3'UTR|ENTPD6_ENST00000360031.2_3'UTR O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) NA NA response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026) cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 TACTGTGAGCTGTTCCCGCCT 0.572 NA C||| 3038 0.606629 0.7186 0.3357 5008 , , NA 18602 0.9147 NA 0.4433 False NA ,,, NA NA NA 2504 0.498 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF039916 CCDS13170.1, CCDS46586.1 20p11.21 2010-06-24 2010-06-24 ENSG00000197586 ENSG00000197586 955 3368 protein-coding gene gene with protein product 603160 interleukin 6 signal transducer-2 CD39L2, IL6ST2 NA 9676430 Standard NM_001247 NA Approved NTPDase-6, dJ738P15.3 uc002wuj.2 O75354 OTTHUMG00000032116 ENST00000376652.4:c.*841T>C chr20.hg19:g.25207074T>C NA A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1 hg19 CCDS13170.1 0.02 14.572077 AGCxGTT COVERED NOVEL ENTPD6-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078414.2 5 20.088899 KEEP 0 1 26 76 2293 TT 1 1 0 + 20 60 611 0 0 37.745909 339 60 12217 534 ENST00000376652.4 0.05571 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25257462 25257462 __UNKNOWN__ Intron SNP G G A rs2424699 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25257462G>A ENST00000216962.4 + 6 882 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 CTCGCCCACAGCCTTTACCGC 0.637 NA g||| 2334 0.466054 0.2428 0.3141 5008 , , NA 17796 0.9087 NA 0.4135 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.772+69G>A chr20.hg19:g.25257462G>A NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 8.434166 ACAxCCT COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 2 6.198733 KEEP 0 4 97 55 1979 GG 1 1 0 + 14 60 472 0 0 31.111509 212 60 8037 387 ENST00000216962.4 0.061947 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25259807 25259807 __UNKNOWN__ Intron SNP G G A rs2261115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25259807G>A ENST00000216962.4 + 9 1202 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 GGAAAAGGGCGGCACCTCCCC 0.642 NA G||| 2571 0.513379 0.3661 0.3401 5008 , , NA 14955 0.9107 NA 0.4324 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 G 1602,2804 486.9+/-360.8 295,1012,896 62 49 53 0.5 0 20 dbSNP_100 53 3741,4859 522.5+/-380.1 804,2133,1363 no intron PYGB NM_002862.3 1099,3145,2259 AA,AG,GG 43.5,36.3595,41.081 25259807 5343,7663 2203 4300 6503 SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1092+22G>A chr20.hg19:g.25259807G>A NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 4.226764 GGCxGCA COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 0 6.019465 KEEP 0 0 0 20 699 GG 0.999863 0.999863 0 + 11 60 403 0 0 29.148681 120 60 4209 173 ENST00000216962.4 0.083969 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25260931 25260931 __UNKNOWN__ Silent SNP A A G rs2227890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25260931A>G ENST00000216962.4 + 10 1232 c.1122A>G c.(1120-1122)gcA>gcG p.A374A NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 374 NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 AGACCTGTGCATACACCAACC 0.537 NA G||| 2690 0.537141 0.4523 0.3473 5008 , , NA 21077 0.9107 NA 0.4334 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 G 1903,2503 628.7+/-395.1 401,1101,701 136 122 126 1122 -7.7 0.6 20 dbSNP_98 126 3754,4846 616.5+/-396.5 813,2128,1359 no coding-synonymous PYGB NM_002862.3 1214,3229,2060 GG,GA,AA 43.6512,43.1911,43.4953 374/844 25260931 5657,7349 2203 4300 6503 SO:0001819 synonymous_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1122A>G chr20.hg19:g.25260931A>G NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 16.226612 TGCxTAC COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 5 9.199718 KEEP 0 2 73 56 1777 AA 1 1 0 + 31 60 1069 0 0 76.187408 321 60 11769 518 ENST00000216962.4 0.088068 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25261784 25261784 __UNKNOWN__ Intron SNP G G A rs2261747 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25261784G>A ENST00000216962.4 + 11 1513 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 GGCCAGCTCTGTCTGACACCC 0.587 NA G||| 2579 0.514976 0.3729 0.3415 5008 , , NA 18191 0.9107 NA 0.4314 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 G 1614,2792 496.5+/-363.6 296,1022,885 106 99 102 -2.5 0 20 dbSNP_100 102 3744,4856 532.4+/-382.2 809,2126,1365 no intron PYGB NM_002862.3 1105,3148,2250 AA,AG,GG 43.5349,36.6319,41.1964 25261784 5358,7648 2203 4300 6503 SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1403+36G>A chr20.hg19:g.25261784G>A NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 11.074896 TCTxTCT COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 1 13.543216 KEEP 0 0 0 45 1574 GG 1 1 0 + 19 60 652 0 0 44.099694 262 60 9753 374 ENST00000216962.4 0.067616 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25264814 25264814 __UNKNOWN__ Silent SNP T T C rs2227892 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25264814T>C ENST00000216962.4 + 14 1805 c.1695T>C c.(1693-1695)gaT>gaC p.D565D NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 565 NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 CCATGTTCGATGTGCATGTGA 0.552 NA C||| 2689 0.536941 0.4516 0.3473 5008 , , NA 20398 0.9107 NA 0.4334 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 C 1903,2503 629.0+/-395.2 401,1101,701 228 159 183 1695 -4.5 0.9 20 dbSNP_98 183 3754,4846 616.5+/-396.5 813,2128,1359 no coding-synonymous PYGB NM_002862.3 1214,3229,2060 CC,CT,TT 43.6512,43.1911,43.4953 565/844 25264814 5657,7349 2203 4300 6503 SO:0001819 synonymous_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1695T>C chr20.hg19:g.25264814T>C NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 7.511637 CGAxGTG COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 1 4.581714 KEEP 0 2 74 41 1261 TT 1 1 0 + 13 60 410 0 0 25.458437 220 60 8146 357 ENST00000216962.4 0.055794 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25268920 25268920 __UNKNOWN__ Intron SNP T T C rs3002702 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25268920T>C ENST00000216962.4 + 15 1878 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 TGTGCCACTGTCACCCGTGTC 0.667 NA C||| 2699 0.538938 0.4607 0.3473 5008 , , NA 13784 0.9107 NA 0.4314 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1769-141T>C chr20.hg19:g.25268920T>C NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 6.736514 CTGxCAC COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 2 10.062639 KEEP 0 1 36 46 1400 TT 1 1 0 + 7 60 262 0 0 16.418856 190 60 6487 315 ENST00000216962.4 0.035533 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25271086 25271086 __UNKNOWN__ Intron SNP T T C rs2257432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25271086T>C ENST00000216962.4 + 16 1937 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 AAGGCATTTTTGTGCTAAAAA 0.587 NA C||| 2686 0.536342 0.4508 0.3473 5008 , , NA 18845 0.9107 NA 0.4314 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 C 1899,2507 621.4+/-393.7 397,1105,701 102 90 94 -1.5 0 20 dbSNP_100 94 3727,4873 609.5+/-395.5 799,2129,1372 no intron PYGB NM_002862.3 1196,3234,2073 CC,CT,TT 43.3372,43.1003,43.257 25271086 5626,7380 2203 4300 6503 SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1828-31T>C chr20.hg19:g.25271086T>C NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 2.30646 TTTxGTG COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 0 4.210855 KEEP 0 0 0 14 409 TT 0.995343 0.995148 0 + 4 60 144 0 0 9.225786 85 60 3057 114 ENST00000216962.4 0.044944 0.999804 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25271326 25271326 __UNKNOWN__ Intron SNP C C T rs2258066 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25271326C>T ENST00000216962.4 + 16 2079 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 GTACTGGCCCCGGGCCTTTCA 0.612 NA c||| 2686 0.536342 0.4508 0.3473 5008 , , NA 17465 0.9107 NA 0.4314 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.1969+68C>T chr20.hg19:g.25271326C>T NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 4.528469 CCCxGGG COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 0 5.350796 KEEP 0 1 32 29 957 CC 0.999997 0.999988 0 + 6 60 222 0 0 15.003883 102 60 3235 158 ENST00000216962.4 0.055556 0.999991 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25273362 25273362 __UNKNOWN__ Intron SNP G G A rs2281562 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25273362G>A ENST00000216962.4 + 17 2287 NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 GTGTGCTAGGGTCAGTGCCCA 0.682 NA G||| 1447 0.288938 0.1248 0.1859 5008 , , NA 15871 0.5565 NA 0.2435 False NA ,,, NA NA NA 2504 0.3548 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.2177+113G>A chr20.hg19:g.25273362G>A NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 2.016478 AGGxTCA COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 1 4.815374 KEEP 0 0 0 16 550 GG 0.997832 0.9976 0 + 8 60 284 0 0 20.592868 80 60 2889 115 ENST00000216962.4 0.090909 0.999768 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25276297 25276297 __UNKNOWN__ Silent SNP G G A rs1130694 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25276297G>A ENST00000216962.4 + 19 2480 c.2370G>A c.(2368-2370)caG>caA p.Q790Q ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 790 NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 AGGTGGACCAGCTGTACCGGG 0.582 NA G||| 2562 0.511581 0.3729 0.3314 5008 , , NA 19374 0.9107 NA 0.4264 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 G , 1602,2804 494.6+/-363.0 289,1024,890 74 72 73 2370, 1.5 1 20 dbSNP_86 73 3660,4940 524.8+/-380.6 763,2134,1403 no coding-synonymous,intron PYGB,ABHD12 NM_002862.3,NM_015600.4 , 1052,3158,2293 AA,AG,GG 42.5581,36.3595,40.4583 , 790/844, 25276297 5262,7744 2203 4300 6503 SO:0001819 synonymous_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.2370G>A chr20.hg19:g.25276297G>A NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 8.483959 CCAxCTG COVERED 1160 0.5311355311355311 181 0.3678861788617886 123 0.3397790055248619 530 0.9265734265734266 326 0.43007915567282323 G 9.855 1.194604 0.22037 0.363595 0.425581 ENSG00000100994 ENST00000428458 . . . 4.64 1.51 0.23008 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999393846 . . . . . . T 0.16512 -1.0400 3 . . . -24.2095 5.1835 0.15173 0.2442:0.0:0.6053:0.1505 rs1130694;rs1802895;rs2227893;rs2258727;rs3177790;rs3189839;rs11549035;rs1130694 . . . N 209 . . S + 2 0 PYGB 25224297 0.491000 0.26019 0.998000 0.56505 0.988000 0.76386 0.237000 0.17985 0.251000 0.21505 0.561000 0.74099 AGC NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 2 12.641415 KEEP 0 0 0 42 1514 GG 1 1 0 + 11 60 400 0 0 26.44776 202 60 7684 307 ENST00000216962.4 0.051643 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25276343 25276343 __UNKNOWN__ Intron SNP G G A rs2258728 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25276343G>A ENST00000216962.4 + 19 2489 ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_Intron NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 GGGAGCAGCTGGGTGGGTCCA 0.547 NA G||| 2670 0.533147 0.4501 0.3372 5008 , , NA 18306 0.9107 NA 0.4284 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 G , 1887,2519 537.9+/-374.9 394,1099,710 46 47 47 , -0.4 0 20 dbSNP_100 47 3664,4936 521.7+/-380.0 767,2130,1403 no intron,intron PYGB,ABHD12 NM_002862.3,NM_015600.4 , 1161,3229,2113 AA,AG,GG 42.6047,42.828,42.6803 , , 25276343 5551,7455 2203 4300 6503 SO:0001627 intron_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.2379+37G>A chr20.hg19:g.25276343G>A NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 9.059406 GCTxGGT COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 1 15.349643 KEEP 0 0 0 51 1783 GG 1 1 0 + 11 60 392 0 0 25.34706 216 60 7963 363 ENST00000216962.4 0.048458 1 PYGB 5834 __UNKNOWN__ __UNKNOWN__ 20 25277244 25277244 __UNKNOWN__ 3'UTR SNP A A G rs9927 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25277244A>G ENST00000216962.4 + 0 2728 ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain NA NA carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 TTTGCCAGCCACTGGTGGTCC 0.552 NA G||| 2796 0.558307 0.4773 0.366 5008 , , NA 18287 0.9087 NA 0.4871 False NA ,,, NA NA NA 2504 0.5164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13171.1 20p11.21 2013-03-01 ENSG00000100994 ENSG00000100994 5834 2.4.1.1 Glycogen phosphorylases 9723 protein-coding gene gene with protein product glycogen phosphorylase, brain form 138550 NA Standard NM_002862 NM_002862 NA Approved uc002wup.3 P11216 OTTHUMG00000032117 ENST00000216962.4:c.*86A>G chr20.hg19:g.25277244A>G NA Q96AK1|Q9NPX8 hg19 CCDS13171.1 0.02 4.444271 GCCxCTG COVERED NOVEL PYGB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078415.2 0 3.911545 KEEP 0 0 0 13 401 AA 0.994391 0.99439 0 + 6 60 183 0 0 10.914586 123 60 4372 154 ENST00000216962.4 0.046512 1 ABHD12 26090 __UNKNOWN__ __UNKNOWN__ 20 25280781 25280781 __UNKNOWN__ Intron SNP A A G rs2259873 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25280781A>G ENST00000376542.3 - 12 1437 NM_015600.4 NP_056415.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 NA NA adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281) acylglycerol lipase activity (GO:0047372) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GCTAGAGGCTAGGCTGTGGGC 0.502 NA G||| 2685 0.536142 0.4501 0.3473 5008 , , NA 15501 0.9107 NA 0.4314 False NA ,,, NA NA NA 2504 0.5082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL117442 CCDS13172.1, CCDS42857.1 20p11.21 2007-04-24 2006-03-10 2006-03-10 ENSG00000100997 ENSG00000100997 26090 Abhydrolase domain containing 15868 protein-coding gene gene with protein product 613599 chromosome 20 open reading frame 22 C20orf22 NA Standard NM_015600 NM_015600 NA Approved DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A uc002wuq.3 Q8N2K0 OTTHUMG00000032121 ENST00000376542.3:c.1157+2073T>C chr20.hg19:g.25280781A>G NA A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6 hg19 CCDS13172.1 0.02 2.103553 GCTxGGC COVERED NOVEL ABHD12-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000078424.2 1 4.513573 KEEP 0 0 0 15 468 AA 0.99649 0.995486 0 - 10 60 357 0 0 27.522087 68 60 2368 105 ENST00000376542.3 0.128205 0.998993 ABHD12 26090 __UNKNOWN__ __UNKNOWN__ 20 25282944 25282944 __UNKNOWN__ Silent SNP A A G rs10966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25282944A>G ENST00000339157.5 - 12 1340 c.1068T>C c.(1066-1068)gaT>gaC p.D356D ABHD12_ENST00000376542.3_Silent_p.D356D NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 356 NA adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281) acylglycerol lipase activity (GO:0047372) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GAACTTTGAAATCTCGGAAGC 0.547 NA G||| 2712 0.541534 0.4629 0.3516 5008 , , NA 19604 0.9107 NA 0.4374 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 G , 1987,2419 617.9+/-393.1 434,1119,650 126 112 117 1068,1068 5 1 20 dbSNP_52 117 3754,4846 616.2+/-396.5 809,2136,1355 no coding-synonymous,coding-synonymous ABHD12 NM_001042472.2,NM_015600.4 , 1243,3255,2005 GG,GA,AA 43.6512,45.0976,44.1412 , 356/399,356/405 25282944 5741,7265 2203 4300 6503 SO:0001819 synonymous_variant AL117442 CCDS13172.1, CCDS42857.1 20p11.21 2007-04-24 2006-03-10 2006-03-10 ENSG00000100997 ENSG00000100997 26090 Abhydrolase domain containing 15868 protein-coding gene gene with protein product 613599 chromosome 20 open reading frame 22 C20orf22 NA Standard NM_015600 NM_015600 NA Approved DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A uc002wuq.3 Q8N2K0 OTTHUMG00000032121 ENST00000339157.5:c.1068T>C chr20.hg19:g.25282944A>G NA A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6 hg19 CCDS42857.1 0.02 2.43125 GAAxTCT COVERED NOVEL ABHD12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078423.2 0 4.513049 KEEP 0 0 0 15 461 AA 0.99649 0.96403 0 - 4 60 156 0 0 11.384972 48 60 1761 86 ENST00000339157.5 0.076923 0.967425 ABHD12 26090 __UNKNOWN__ __UNKNOWN__ 20 25284343 25284343 __UNKNOWN__ Intron SNP T T C rs2260197 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25284343T>C ENST00000339157.5 - 11 1223 ABHD12_ENST00000376542.3_Intron NM_001042472.2 NP_001035937.1 Q8N2K0 ABD12_HUMAN abhydrolase domain containing 12 NA NA adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996) alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281) acylglycerol lipase activity (GO:0047372) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1) 12 GGCAGGGATCTGGGTTCAGGG 0.483 NA C||| 3852 0.769169 0.91 0.5951 5008 , , NA 19191 0.994 NA 0.5417 False NA ,,, NA NA NA 2504 0.7045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL117442 CCDS13172.1, CCDS42857.1 20p11.21 2007-04-24 2006-03-10 2006-03-10 ENSG00000100997 ENSG00000100997 26090 Abhydrolase domain containing 15868 protein-coding gene gene with protein product 613599 chromosome 20 open reading frame 22 C20orf22 NA Standard NM_015600 NM_015600 NA Approved DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A uc002wuq.3 Q8N2K0 OTTHUMG00000032121 ENST00000339157.5:c.951-79A>G chr20.hg19:g.25284343T>C NA A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6 hg19 CCDS42857.1 0.02 4.368284 ATCxGGG COVERED NOVEL ABHD12-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078423.2 2 6.920468 KEEP 0 0 0 23 728 TT 0.999892 0.999892 0 - 8 60 295 0 0 19.782944 141 60 5173 199 ENST00000339157.5 0.053691 1 GINS1 9837 __UNKNOWN__ __UNKNOWN__ 20 25427081 25427081 __UNKNOWN__ 3'UTR SNP G G T rs2387887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25427081G>T ENST00000262460.4 + 0 1139 NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) NA NA DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278) cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 TCTTAAATAAGCAGTCACTTG 0.358 NA T||| 2722 0.54353 0.4697 0.3559 5008 , , NA 19925 0.9107 NA 0.4354 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC012542 CCDS33451.1 20p11.21 2006-05-04 ENSG00000101003 ENSG00000101003 9837 28980 protein-coding gene gene with protein product 610608 NA 8724849, 8786132 Standard NM_021067 NM_021067 NA Approved KIAA0186, PSF1 uc002wuv.1 Q14691 OTTHUMG00000032124 ENST00000262460.4:c.*454G>T chr20.hg19:g.25427081G>T NA Q9NQE2|Q9NQI7 hg19 CCDS33451.1 0.02 1.734305 TAAxCAG COVERED NOVEL GINS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078433.1 3 3.310541 KEEP 0 0 0 11 379 GG 0.993072 0.992752 0 + 4 60 137 0 0 8.589159 82 60 3100 112 ENST00000262460.4 0.046512 0.999678 NINL 22981 __UNKNOWN__ __UNKNOWN__ 20 25436466 25436466 __UNKNOWN__ Intron SNP C C T rs12481409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25436466C>T ENST00000278886.6 - 23 3917 NINL_ENST00000422516.1_Intron|NINL_ENST00000464285.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) cytosol (GO:0005829)|microtubule (GO:0005874) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 tggtggctcacgcctctaatc 0.567 NA C||| 1089 0.217452 0.0136 0.1513 5008 , , NA 17523 0.5526 NA 0.1561 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 C 132,4274 94.8+/-133.5 4,124,2075 90 99 96 -0.7 0 20 dbSNP_120 96 1232,7368 249.0+/-276.5 88,1056,3156 no intron NINL NM_025176.4 92,1180,5231 TT,TC,CC 14.3256,2.9959,10.4875 25436466 1364,11642 2203 4300 6503 SO:0001627 intron_variant CCDS33452.1 20p11.22-p11.1 2013-01-10 ENSG00000101004 ENSG00000101004 22981 EF-hand domain containing 29163 protein-coding gene gene with protein product ninein-like protein 609580 NA 10231032 Standard NM_025176 XM_005260678 NA Approved KIAA0980, NLP uc002wux.1 Q9Y2I6 OTTHUMG00000032127 ENST00000278886.6:c.3844-44G>A chr20.hg19:g.25436466C>T NA A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3 hg19 CCDS33452.1 0.02 1.972926 TCAxGCC COVERED NOVEL NINL-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078445.3 2 8.426494 KEEP 0 0 0 28 935 CC 0.999997 0.999892 0 - 7 60 201 0 0 13.062375 84 60 2733 135 ENST00000278886.6 0.076923 0.999895 NINL 22981 __UNKNOWN__ __UNKNOWN__ 20 25447931 25447931 __UNKNOWN__ Intron SNP A A G rs404148 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25447931A>G ENST00000278886.6 - 19 3497 NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) cytosol (GO:0005829)|microtubule (GO:0005874) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TTAGAAGAATATTCTCTACTT 0.448 NA G||| 3847 0.768171 0.9092 0.5965 5008 , , NA 19566 0.9931 NA 0.5398 False NA ,,, NA NA NA 2504 0.7025 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33452.1 20p11.22-p11.1 2013-01-10 ENSG00000101004 ENSG00000101004 22981 EF-hand domain containing 29163 protein-coding gene gene with protein product ninein-like protein 609580 NA 10231032 Standard NM_025176 XM_005260678 NA Approved KIAA0980, NLP uc002wux.1 Q9Y2I6 OTTHUMG00000032127 ENST00000278886.6:c.3423+93T>C chr20.hg19:g.25447931A>G NA A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3 hg19 CCDS33452.1 0.02 2.115548 AATxTTC COVERED NOVEL NINL-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078445.3 0 4.211548 KEEP 0 0 0 14 413 AA 0.995343 0.995112 0 - 12 60 434 0 0 33.9766 75 60 2601 107 ENST00000278886.6 0.137931 0.999768 NINL 22981 __UNKNOWN__ __UNKNOWN__ 20 25456888 25456888 __UNKNOWN__ Silent SNP A A G rs437635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25456888A>G ENST00000278886.6 - 17 3112 c.3039T>C c.(3037-3039)agT>agC p.S1013S NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1013 NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) cytosol (GO:0005829)|microtubule (GO:0005874) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CAACCTCCACACTGTGCTTGT 0.682 NA G||| 2795 0.558107 0.5356 0.3559 5008 , , NA 14219 0.9067 NA 0.4304 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 G 2241,2165 583.5+/-385.8 552,1137,514 58 62 60 3039 0.2 0 20 dbSNP_80 60 3727,4873 615.9+/-396.4 794,2139,1367 no coding-synonymous NINL NM_025176.4 1346,3276,1881 GG,GA,AA 43.3372,49.1375,45.8865 1013/1383 25456888 5968,7038 2203 4300 6503 SO:0001819 synonymous_variant CCDS33452.1 20p11.22-p11.1 2013-01-10 ENSG00000101004 ENSG00000101004 22981 EF-hand domain containing 29163 protein-coding gene gene with protein product ninein-like protein 609580 NA 10231032 Standard NM_025176 XM_005260678 NA Approved KIAA0980, NLP uc002wux.1 Q9Y2I6 OTTHUMG00000032127 ENST00000278886.6:c.3039T>C chr20.hg19:g.25456888A>G NA A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3 hg19 CCDS33452.1 0.02 6.352926 CACxCTG COVERED NOVEL NINL-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078445.3 1 2.578246 KEEP 0 2 76 35 1058 AA 1 1 0 - 8 60 290 0 0 18.329943 187 60 6463 279 ENST00000278886.6 0.041026 1 NINL 22981 __UNKNOWN__ __UNKNOWN__ 20 25469844 25469844 __UNKNOWN__ Intron SNP A A G rs2072977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25469844A>G ENST00000278886.6 - 13 1751 NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like NA NA G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) cytosol (GO:0005829)|microtubule (GO:0005874) calcium ion binding (GO:0005509) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CAGAGCCTGGACATGAGACTA 0.607 NA A||| 837 0.167133 0.0575 0.1326 5008 , , NA 20298 0.3562 NA 0.1789 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 A 388,4018 193.3+/-218.5 12,364,1827 142 134 137 -1.5 0 20 dbSNP_96 137 1587,7013 295.7+/-302.5 151,1285,2864 no intron NINL NM_025176.4 163,1649,4691 GG,GA,AA 18.4535,8.8062,15.1853 25469844 1975,11031 2203 4300 6503 SO:0001627 intron_variant CCDS33452.1 20p11.22-p11.1 2013-01-10 ENSG00000101004 ENSG00000101004 22981 EF-hand domain containing 29163 protein-coding gene gene with protein product ninein-like protein 609580 NA 10231032 Standard NM_025176 XM_005260678 NA Approved KIAA0980, NLP uc002wux.1 Q9Y2I6 OTTHUMG00000032127 ENST00000278886.6:c.1677+35T>C chr20.hg19:g.25469844A>G NA A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3 hg19 CCDS33452.1 0.02 18.915271 TGGxCAT COVERED NOVEL NINL-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078445.3 1 24.976114 KEEP 0 0 0 83 2662 AA 1 1 0 - 16 60 595 0 0 37.274701 427 60 15240 668 ENST00000278886.6 0.036117 1 NANP 140838 __UNKNOWN__ __UNKNOWN__ 20 25595466 25595466 __UNKNOWN__ 3'UTR SNP C C A rs6037158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25595466C>A ENST00000304788.3 - 0 2068 NM_152667.2 NP_689880.1 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase NA NA carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380) N-acylneuraminate-9-phosphatase activity (GO:0050124) endometrium(2)|lung(2)|prostate(1) 5 tctacaaaaacacacattagc 0.512 NA A||| 3312 0.661342 0.7912 0.4164 5008 , , NA 17826 0.9772 NA 0.4871 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL031673 CCDS13173.1 20p11.1 2006-10-24 2006-01-24 2006-01-24 ENSG00000170191 ENSG00000170191 140838 16140 protein-coding gene gene with protein product 610763 chromosome 20 open reading frame 147, haloacid dehalogenase-like hydrolase domain containing 4 C20orf147, HDHD4 NA 16237198 Standard NM_152667 NM_152667 NA Approved dJ694B14.3, MGC26833 uc002wuy.3 Q8TBE9 OTTHUMG00000032132 ENST00000304788.3:c.*1095G>T chr20.hg19:g.25595466C>A NA B3KP12|Q5JYN8|Q8TE97|Q9Y3N0 hg19 CCDS13173.1 0.02 1.511292 AAAxACA COVERED NOVEL NANP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078457.2 15 12.275729 KEEP 0 1 35 53 1883 CC 1 0.999962 0 - 4 60 133 0 0 7.921988 96 60 3563 189 ENST00000304788.3 0.04 0.999962 FAM182B 728882 __UNKNOWN__ __UNKNOWN__ 20 25829260 25829260 __UNKNOWN__ Intron SNP C C T rs4114274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:25829260C>T ENST00000376403.1 - 2 386 FAM182B_ENST00000376404.2_Intron|FAM182B_ENST00000478164.1_Intron Q5T319 F182B_HUMAN family with sequence similarity 182, member B NA NA lung(1) 1 TGTGGACCTCCGTTTCCTCAT 0.507 NA .||| 273 0.0545128 0.1982 0.0101 5008 , , NA 27383 0.0 NA 0.004 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20p11.1 2010-07-14 ENSG00000175170 ENSG00000175170 728882 34503 pseudogene pseudogene NA Standard NR_026714 NR_027061 NA Approved Q5T319 OTTHUMG00000032136 ENST00000376403.1:c.7+80G>A chr20.hg19:g.25829260C>T NA Q4G0Q1 hg19 0.02 14.723369 CTCxGTT COVERED NOVEL FAM182B-003 PUTATIVE basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000078463.2 6 15.346595 KEEP 25 0 0 51 1713 CC 1 1 0 - 34 47 1304 0 0 104.438167 201 60 7288 444 ENST00000376403.1 0.144681 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26061777 26061777 __UNKNOWN__ RNA SNP T T G rs111582809 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:26061777T>G ENST00000376398.2 + 0 819 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 tctctctctctctctctttct 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 13 11 11 NA NA 20 NA 26061777 692 1589 2281 AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26061777T>G NA A2RRD0|Q8N947 hg19 0.02 5.847476 CTCxCTC COVERED NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 2 4.212848 KEEP 2 0 0 14 439 TT 0.995343 0.995343 0 + 8 60 227 0 1 12.938552 146 60 5346 205 ENST00000376398.2 0.051948 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26061861 26061861 __UNKNOWN__ RNA SNP G G T rs375533025 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:26061861G>T ENST00000376398.2 + 0 881 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 ACGTGGAGGAGGAGGAACACG 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 31 24 26 NA NA 20 NA 26061861 692 1582 2274 AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26061861G>T NA A2RRD0|Q8N947 hg19 0.02 8.733583 GGAxGAG COVERED . . . . . . . . . . N 6.149 0.395676 0.11638 . . ENSG00000125804 ENST00000376398;ENST00000246000;ENST00000415411 . . . 0.546 0.546 0.17196 . . . . . T 0.40815 0.1132 . . . 0.09310 N 1 . . . . . . T 0.39663 -0.9603 4 0.87932 D 0 . . . . . . . . D 71;71;12 . ENSP00000246000:E71D E + 3 2 FAM182A 26009861 0.860000 0.29831 0.067000 0.19924 0.258000 0.26162 0.025000 0.13577 0.587000 0.29643 0.123000 0.15791 GAG NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 0 3.346539 KEEP 7 1 34 23 828 GG 0.999909 0.999909 0 + 10 44 345 0 0 22.592907 167 60 6369 317 ENST00000376398.2 0.056497 1 FAM182A 284800 __UNKNOWN__ __UNKNOWN__ 20 26063560 26063560 __UNKNOWN__ RNA SNP G G A rs5742261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:26063560G>A ENST00000376398.2 + 0 1077 NR_026713.1 Q5T1J6 F182A_HUMAN family with sequence similarity 182, member A NA NA breast(1)|endometrium(2)|kidney(1) 4 ATGGAGTTGTGTTTTGAATAA 0.428 NA .||| 3170 0.632987 0.9758 0.5144 5008 , , NA 12964 0.5694 NA 0.4861 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 63 48 53 NA NA 20 NA 26063560 686 1505 2191 AL391119 20p11 2013-03-18 2008-08-05 2008-08-05 ENSG00000125804 ENSG00000125804 284800 16222 other unknown chromosome 20 open reading frame 91 C20orf91 NA Standard NR_026713 NA Approved bB329D4.1, C20orf91A uc010gdq.3 Q5T1J6 OTTHUMG00000032144 ENST00000376398.2: chr20.hg19:g.26063560G>A NA A2RRD0|Q8N947 hg19 0.02 12.843347 TGTxTTT COVERED 1575 0.7211538461538461 475 0.9654471544715447 218 0.6022099447513812 450 0.7867132867132867 432 0.5699208443271768 N 1.328 -0.597487 0.03771 . . ENSG00000125804 ENST00000376398;ENST00000246000 . . . 0.329 0.329 0.15924 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.44298 -0.9337 3 0.02654 T 1 . . . . rs5742261;rs7345690;rs59377583 . . . I 137 . ENSP00000246000:V137I V + 1 0 FAM182A 26011560 0.119000 0.22226 0.038000 0.18304 0.023000 0.10783 -1.138000 0.03216 -1.349000 0.02202 -1.849000 0.00571 GTT NOVEL FAM182A-001 KNOWN basic lincRNA NA processed_transcript OTTHUMT00000078473.2 0 3.781019 KEEP 5 2 55 32 1157 GG 0.999998 0.999998 0 + 11 60 403 0 0 25.174317 283 60 10747 415 ENST00000376398.2 0.037415 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29612923 29612923 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29612923C>T ENST00000278882.3 + 1 257 FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_3'UTR|FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGCATTTCCTCCTGGCCTCCG 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.-124+810C>T chr20.hg19:g.29612923C>T NA C4AME5 hg19 0.02 28.11162 CCTxCTG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 4 27.705298 KEEP 236 9 285 192 6833 CC 1 1 0 + 13 60 492 0 0 35.071166 169 60 6436 1281 ENST00000278882.3 0.071429 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29612980 29612980 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29612980A>G ENST00000278882.3 + 1 257 FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_3'UTR|FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAAGAAAGTATCAAGGAGTG 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.-124+867A>G chr20.hg19:g.29612980A>G NA C4AME5 hg19 0.02 18.285345 AGTxTCA COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 1 12.536533 KEEP 237 6 219 118 3492 AA 1 1 0 + 14 40 523 0 0 37.799485 161 60 5955 847 ENST00000278882.3 0.08 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29614323 29614323 __UNKNOWN__ 5'UTR SNP C C T rs62197050 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29614323C>T ENST00000278882.3 + 0 316 FRG1B_ENST00000439954.2_5'UTR|FRG1B_ENST00000358464.4_5'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAGCTTGATACGTTGGTGAGT 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.-65C>T chr20.hg19:g.29614323C>T NA C4AME5 hg19 0.02 6.944945 ATAxGTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 0 3.982697 KEEP 17 2 62 35 1234 CC 0.999999 0.999999 0 + 13 37 488 0 0 35.314714 150 60 5440 283 ENST00000278882.3 0.079755 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29622402 29622402 __UNKNOWN__ Intron SNP A A T rs6087168 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29622402A>T ENST00000278882.3 + 3 320 FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 caggaggtggaggtcgcagtg 0.463 NA .||| 1693 0.338059 0.407 0.3055 5008 , , NA 16068 0.2778 NA 0.3777 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.-60-727A>T chr20.hg19:g.29622402A>T NA C4AME5 hg19 0.02 -0.078946 TGGxGGT UNCOVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 3 3.609699 KEEP 2 0 0 12 369 AA 0.993072 0.0768 0 + 3 60 104 0 0 10.36968 2 60 71 26 ENST00000278882.3 0.6 0.077336 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625574 29625574 __UNKNOWN__ Intron SNP G G A rs62198351 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29625574G>A ENST00000278882.3 + 5 496 FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ggtattacatgtgcacaccac 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.117-299G>A chr20.hg19:g.29625574G>A NA C4AME5 hg19 0.02 -0.262864 CATxTGC UNCOVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 7 3.611683 KEEP 28 0 0 12 418 GG 0 0 0 + 5 40 179 0 0 15.817393 12 40 403 64 ENST00000278882.3 0.294118 0.693668 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625724 29625724 __UNKNOWN__ Intron SNP A A G rs7260929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29625724A>G ENST00000278882.3 + 5 496 FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 gtcaccactcagccacatgca 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.117-149A>G chr20.hg19:g.29625724A>G NA C4AME5 hg19 0.02 13.734136 CTCxGCC COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 2 5.982534 KEEP 29 0 0 20 591 AA 0.997832 0.997832 0 + 22 60 707 0 0 50.679839 187 60 6722 475 ENST00000278882.3 0.105263 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29625971 29625971 __UNKNOWN__ Missense_Mutation SNP C C A rs145033899 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 72 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.215C>A chr20.hg19:g.29625971C>A ENSP00000278882:p.Pro72Gln NA C4AME5 hg19 0.02 34.445025 AACxAGT COVERED . . . . . . . . . . c 12.14 1.847531 0.32606 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.49720 0.77 1.68 1.68 0.24146 . 0.112402 0.64402 D 0.000009 T 0.63271 0.2497 . . . 0.49483 D 0.999795 D 0.63046 0.992 D 0.79784 0.993 T 0.65948 -0.6044 9 0.66056 D 0.02 . 9.3557 0.38164 0.0:1.0:0.0:0.0 . 77 F5H5R5 . Q 72;77;72 ENSP00000408863:P77Q ENSP00000278882:P72Q P + 2 0 FRG1B 28239632 1.000000 0.71417 1.000000 0.80357 0.229000 0.25112 6.442000 0.73443 1.250000 0.43966 0.184000 0.17185 CCA NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 2 42.671235 KEEP 40 1 29 152 5319 CC 1 1 0 + 19 54 672 0 0 41.967177 446 60 17322 1045 ENST00000278882.3 0.04086 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628251 29628251 __UNKNOWN__ Missense_Mutation SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 85 NA p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - Missense(2) kidney(2) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.253A>G chr20.hg19:g.29628251A>G ENSP00000278882:p.Asn85Asp NA C4AME5 hg19 0.02 43.222425 TCAxATA COVERED . . . . . . . . . . a 15.78 2.933773 0.52866 . . ENSG00000149531 ENST00000278882;ENST00000439954;ENST00000358464 T 0.50277 0.75 2.08 2.08 0.27032 Actin cross-linking (1); 0.000000 0.85682 D 0.000000 T 0.46619 0.1402 . . . 0.45390 D 0.998378 B;B 0.26809 0.086;0.16 B;B 0.40329 0.326;0.253 T 0.51553 -0.8691 9 0.66056 D 0.02 . 8.0833 0.30758 1.0:0.0:0.0:0.0 . 90;85 F5H5R5;Q9BZ01 .;FRG1B_HUMAN D 85;90;85 ENSP00000408863:N90D ENSP00000278882:N85D N + 1 0 FRG1B 28241912 1.000000 0.71417 1.000000 0.80357 0.799000 0.45148 8.047000 0.89440 1.208000 0.43306 0.347000 0.21830 AAT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 15 44.067703 KEEP 55 18 659 376 12053 AA 1 1 0 + 33 60 1269 0 0 86.85365 580 60 21192 1633 ENST00000278882.3 0.053834 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29628491 29628491 __UNKNOWN__ Intron SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29628491A>G ENST00000278882.3 + 6 713 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TATAAATCCCATAGTTGATGG 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.333+160A>G chr20.hg19:g.29628491A>G NA C4AME5 hg19 0.02 15.225624 CCCxTAG UNCOVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 12 2.406037 KEEP 15 0 0 8 232 AA 0 0 0 + 10 60 374 0 0 23.926521 241 60 8768 404 ENST00000278882.3 0.039841 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632559 29632559 __UNKNOWN__ Intron SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29632559T>C ENST00000278882.3 + 8 805 FRG1B_ENST00000358464.4_Intron Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAATAGTAAATATGTGTAATC 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.426-52T>C chr20.hg19:g.29632559T>C NA C4AME5 hg19 0.02 27.425534 AAAxATG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 1 10.854215 KEEP 104 7 234 118 3274 TT 1 1 0 + 38 40 1380 0 0 98.677571 436 60 15525 872 ENST00000278882.3 0.080169 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632643 29632643 __UNKNOWN__ Missense_Mutation SNP T T C rs143379667 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29632643T>C ENST00000278882.3 + 8 838 c.458T>C c.(457-459)cTt>cCt p.L153P FRG1B_ENST00000358464.4_Missense_Mutation_p.L153P Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 153 NA p.L153P(10) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GACCACAAACTTAAAATAAGT 0.294 NA NA NA NA NA NA NA NA NA NA NA 10 Substitution - Missense(10) endometrium(6)|kidney(4) NA NA NA NA NA NA NA NA NA NA SO:0001583 missense 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.458T>C chr20.hg19:g.29632643T>C ENSP00000278882:p.Leu153Pro NA C4AME5 hg19 0.02 40.563648 AACxTAA COVERED . . . . . . . . . . t 12.77 2.038665 0.35989 . . ENSG00000149531 ENST00000278882;ENST00000358464 . . . 1.44 1.44 0.22558 . 0.000000 0.64402 U 0.000001 T 0.50463 0.1617 . . . 0.80722 D 1 P 0.35033 0.481 B 0.40038 0.317 T 0.53187 -0.8474 8 0.87932 D 0 . 6.9831 0.24713 0.0:0.0:0.0:1.0 . 153 Q9BZ01 FRG1B_HUMAN P 153 . ENSP00000278882:L153P L + 2 0 FRG1B 28246304 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 6.723000 0.74742 0.925000 0.37094 0.327000 0.21459 CTT NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 16 54.318077 KEEP 140 21 771 449 14583 TT 1 1 0 + 66 60 2477 0 0 189.116717 530 70 19651 1744 ENST00000278882.3 0.110738 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29632680 29632680 __UNKNOWN__ Silent SNP G G A rs4892355 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29632680G>A ENST00000278882.3 + 8 875 c.495G>A c.(493-495)aaG>aaA p.K165K FRG1B_ENST00000358464.4_Silent_p.K165K Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B 165 NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTCTTAAAAAGGCTCAGAAAG 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.495G>A chr20.hg19:g.29632680G>A NA C4AME5 hg19 0.02 37.320932 AAAxGCT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 22 81.035782 KEEP 107 17 535 457 16311 GG 1 1 0 + 32 54 1157 0 1 77.617064 533 70 19832 1692 ENST00000278882.3 0.056637 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633945 29633945 __UNKNOWN__ 3'UTR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29633945G>A ENST00000278882.3 + 0 964 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGGAATTTTTGTTTCTGCCTT 0.279 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*35G>A chr20.hg19:g.29633945G>A NA C4AME5 hg19 0.02 38.565752 TTTxTTT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 13 36.511405 KEEP 48 17 538 310 10968 GG 1 1 0 + 29 60 1050 0 0 69.874379 507 60 19224 1445 ENST00000278882.3 0.054104 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633983 29633983 __UNKNOWN__ 3'UTR SNP A A G rs76742789 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29633983A>G ENST00000278882.3 + 0 1002 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTTCTGAATAAAATATTCAG 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*73A>G chr20.hg19:g.29633983A>G NA C4AME5 hg19 0.02 45.060438 AATxAAA COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 14 33.227073 KEEP 35 20 688 351 10773 AA 1 1 0 + 34 60 1282 0 0 84.955168 686 70 24672 1520 ENST00000278882.3 0.047222 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633987 29633987 __UNKNOWN__ 3'UTR SNP T T A rs4006817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29633987T>A ENST00000278882.3 + 0 1006 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CTGAATAAAATATTCAGAGGA 0.308 NA .||| 743 0.148363 0.0446 0.1657 5008 , , NA 33780 0.1984 NA 0.166 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*77T>A chr20.hg19:g.29633987T>A NA C4AME5 hg19 0.02 41.068955 AAAxATT COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 15 20.201181 KEEP 33 26 820 355 11074 TT 1 1 0 + 42 60 1525 0 0 102.58354 697 70 25203 1538 ENST00000278882.3 0.056834 1 FRG1B 284802 __UNKNOWN__ __UNKNOWN__ 20 29633992 29633992 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29633992A>G ENST00000278882.3 + 0 1011 FRG1B_ENST00000358464.4_3'UTR Q9BZ01 FRG1B_HUMAN FSHD region gene 1 family, member B NA NA endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAAATATTCAGAGGAAATGC 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q11.1 2013-03-18 2007-10-11 2007-10-11 ENSG00000149531 ENSG00000149531 284802 15792 other unknown chromosome 20 open reading frame 80 C20orf80 NA Standard NR_003579 NR_003579 NA Approved bA348I14.2 uc010ztl.1 Q9BZ01 OTTHUMG00000032157 ENST00000278882.3:c.*82A>G chr20.hg19:g.29633992A>G NA C4AME5 hg19 0.02 39.029382 TTCxGAG COVERED NOVEL FRG1B-001 KNOWN not_best_in_genome_evidence|basic|appris_principal protein_coding NA protein_coding OTTHUMT00000078494.2 15 77.510902 KEEP 34 11 353 381 12145 AA 1 1 0 + 34 60 1208 0 0 76.553448 736 70 27586 1568 ENST00000278882.3 0.044156 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29634031 29634031 __UNKNOWN__ IGR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29634031A>C NA NA FRG1B (21 upstream) : AL441988.1 (3130 downstream) NA NA NA TTGTTGTGAAATTATTGTTTA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29634031A>C NA hg19 0.02 40.267269 GAAxTTA COVERED NOVEL 0 16 28.782388 KEEP 22 20 700 340 10571 AA 1 1 0 34 49 1294 0 0 84.97749 744 60 27657 1519 0.043702 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29634180 29634180 __UNKNOWN__ IGR SNP A A G rs201102021 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29634180A>G NA NA FRG1B (170 upstream) : AL441988.1 (2981 downstream) NA NA NA TTTTTTCTGGATTTCCTGTCC 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29634180A>G NA hg19 0.02 20.055796 TGGxTTT COVERED NOVEL 0 3 3.610333 KEEP 4 0 0 12 358 AA 0.993634 0.993634 0 17 52 584 0 0 41.828771 175 60 6468 428 0.088542 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29641971 29641971 __UNKNOWN__ IGR SNP A A T rs147794444 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29641971A>T NA NA AL441988.1 (4671 upstream) : DEFB115 (203495 downstream) NA NA NA AGAAACAggcagggcacggtg 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29641971A>T NA hg19 0.02 -0.307068 GGCxGGG COVERED NOVEL 0 8 4.51409 KEEP 0 0 0 15 487 AC 0.999997 0.948399 0 2 51 75 0 0 6.795618 4 60 158 103 0.333333 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29648755 29648755 __UNKNOWN__ IGR SNP A A G rs6087178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29648755A>G NA NA AL441988.1 (11455 upstream) : DEFB115 (196711 downstream) NA NA NA ctgggattacaggtgtgagtc 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29648755A>G NA hg19 0.02 1.672337 TACxGGT COVERED NOVEL 0 8 9.352515 KEEP 0 1 31 42 1297 AA 1 0.999907 0 6 60 210 0 0 19.710306 8 60 299 169 0.428571 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 29652005 29652005 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:29652005A>G NA NA AL441988.1 (14705 upstream) : DEFB115 (193461 downstream) NA NA NA gggacttcttagcctccataa 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.29652005A>G NA hg19 0.02 9.647013 CTTxGCC COVERED NOVEL 0 7 3.911821 KEEP 0 0 0 13 408 AA 0.994391 0.994391 0 8 60 286 0 0 19.140474 131 60 4552 237 0.057554 1 REM1 28954 __UNKNOWN__ __UNKNOWN__ 20 30064331 30064331 __UNKNOWN__ Missense_Mutation SNP A A G rs1006459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:30064331A>G ENST00000201979.2 + 2 376 c.83A>G c.(82-84)cAc>cGc p.H28R DEFB124_ENST00000481595.1_Intron NM_014012.4 NP_054731.2 O75628 REM1_HUMAN RAS (RAD and GEM)-like GTP-binding 1 28 NA H -> R (in dbSNP:rs1006459). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3}. GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) membrane (GO:0016020) GTP binding (GO:0005525) kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1) 23 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCACGGGGCCACCAGCCTGGC 0.647 NA G||| 2277 0.454673 0.9024 0.3386 5008 , , NA 15593 0.2659 NA 0.3221 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 G ARG/HIS 3545,861 334.7+/-303.5 1425,695,83 72 86 81 83 0.2 0.7 20 dbSNP_86 81 2700,5900 681.6+/-403.7 411,1878,2011 yes missense REM1 NM_014012.4 29 1836,2573,2094 GG,GA,AA 31.3953,19.5415,48.0163 benign 28/299 30064331 6245,6761 2203 4300 6503 SO:0001583 missense AF152863 CCDS13181.1 20q11.21 2014-05-09 2004-04-14 2004-04-16 ENSG00000088320 ENSG00000088320 28954 15922 protein-coding gene gene with protein product GTPase GES 610388 RAS (RAD and GEM)-like GTP-binding REM NA 10831614, 14623965 Standard NM_014012 NM_014012 NA Approved GES uc002wwa.3 O75628 OTTHUMG00000032168 ENST00000201979.2:c.83A>G chr20.hg19:g.30064331A>G ENSP00000201979:p.His28Arg NA E1P5L1|Q5TZR7|Q5TZR8|Q9NP57 hg19 CCDS13181.1 0.02 14.154053 GCCxCCA COVERED 974 0.445970695970696 437 0.8882113821138211 137 0.3784530386740331 163 0.28496503496503495 237 0.31266490765171506 G 3.961 -0.010297 0.07727 0.804585 0.313953 ENSG00000088320 ENST00000201979 T 0.65364 -0.15 4.25 0.213 0.15244 . 1.023970 0.07776 N 0.952480 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.31194 -0.9952 9 0.24483 T 0.36 . 5.039 0.14449 0.4557:0.1613:0.383:0.0 rs1006459;rs60259937 28 O75628 REM1_HUMAN R 28 ENSP00000201979:H28R ENSP00000201979:H28R H + 2 0 REM1 29527992 0.001000 0.12720 0.662000 0.29724 0.712000 0.41017 -0.783000 0.04638 -0.017000 0.14103 -0.119000 0.15052 CAC NOVEL REM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078508.2 2 32.792046 KEEP 0 0 0 109 3278 AA 1 1 0 + 16 60 500 0 0 28.934594 379 70 13131 613 ENST00000201979.2 0.040506 1 TPX2 22974 __UNKNOWN__ __UNKNOWN__ 20 30345167 30345167 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:30345167T>A ENST00000300403.6 + 3 458 TPX2_ENST00000340513.4_Intron NM_012112.4 NP_036244.2 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated NA NA activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236) axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819) ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901) cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AAAGTAATGATGGGAATTTAC 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF098158 CCDS13190.1 20q11.2 2013-07-23 2013-07-23 2003-10-08 ENSG00000088325 ENSG00000088325 22974 1249 protein-coding gene gene with protein product 605917 chromosome 20 open reading frame 1, TPX2, microtubule-associated, homolog (Xenopus laevis) C20orf2, C20orf1 NA 9207457, 10393424 Standard NM_012112 NA Approved p100, DIL-2 uc002wwp.1 Q9ULW0 OTTHUMG00000032190 ENST00000300403.6:c.-70-43T>A chr20.hg19:g.30345167T>A NA Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1 hg19 CCDS13190.1 0.02 21.049723 TGAxGGG COVERED NOVEL TPX2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078569.2 1 11.431058 KEEP 0 0 0 38 1122 TT 1 1 0 + 18 60 653 0 0 39.827431 509 60 18564 630 ENST00000300403.6 0.034156 1 MYLK2 85366 __UNKNOWN__ __UNKNOWN__ 20 30407370 30407370 __UNKNOWN__ 5'UTR SNP C C T rs143463992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:30407370C>T ENST00000375994.2 + 0 260 MYLK2_ENST00000375985.4_5'UTR Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 NA NA cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941) cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017) ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CAGCAGCACACGCCTCCCTAC 0.542 NA C||| 2 0.000399361 0.0015 0.0 5008 , , NA 19775 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 58 44 49 NA NA 20 NA 30407370 1978 3821 5799 SO:0001623 5_prime_UTR_variant AF325549 CCDS13191.1 20q13.31 2014-09-17 2008-01-23 ENSG00000101306 ENSG00000101306 85366 2.7.11.18 16243 protein-coding gene gene with protein product skeletal muscle myosin light chain kinase 606566 myosin light chain kinase 2, skeletal muscle NA Standard NM_033118 NM_033118 NA Approved skMLCK, KMLC, MLCK2 uc002wwq.2 Q9H1R3 OTTHUMG00000032194 ENST00000375994.2:c.-14C>T chr20.hg19:g.30407370C>T NA Q569L1|Q96I84 hg19 CCDS13191.1 0.02 8.182471 ACAxGCC COVERED NOVEL MYLK2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078583.2 1 8.361315 KEEP 0 1 32 39 1324 CC 1 1 0 + 7 60 254 0 0 15.074185 228 60 7953 343 ENST00000375994.2 0.029787 1 C20orf112 0 __UNKNOWN__ __UNKNOWN__ 20 31074372 31074372 __UNKNOWN__ Intron SNP G G A rs6141734 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31074372G>A ENST00000201961.2 - 5 743 C20orf112_ENST00000375678.3_Intron|C20orf112_ENST00000375677.1_Intron Q96MY1 NOL4L_HUMAN NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 TGGGACTCTGGTTTGCCATTA 0.438 NA G||| 2172 0.433706 0.2194 0.5187 5008 , , NA 20825 0.8403 NA 0.2913 False NA ,,, NA NA NA 2504 0.3906 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000201961.2:c.523+126C>T chr20.hg19:g.31074372G>A NA Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6 hg19 0.02 4.086652 CTGxTTT COVERED NOVEL C20orf112-002 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000078629.3 1 10.228544 KEEP 0 0 0 34 1168 GG 0.999998 0.999998 0 - 9 60 321 0 0 21.69849 138 60 4948 206 ENST00000201961.2 0.061224 1 C20orf112 0 __UNKNOWN__ __UNKNOWN__ 20 31099311 31099311 __UNKNOWN__ Intron SNP T T C rs159428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31099311T>C ENST00000201961.2 - 4 527 C20orf112_ENST00000375678.3_Intron Q96MY1 NOL4L_HUMAN NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 GCGGGCCTGTTGCCCACATGG 0.527 NA C||| 3857 0.770168 0.9887 0.7205 5008 , , NA 15003 0.994 NA 0.5149 False NA ,,, NA NA NA 2504 0.5419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000201961.2:c.308-52A>G chr20.hg19:g.31099311T>C NA Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6 hg19 0.02 6.51737 TGTxGCC COVERED NOVEL C20orf112-002 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000078629.3 1 10.265048 KEEP 0 1 31 45 1430 TT 1 1 0 - 8 60 289 0 0 18.155061 191 60 7057 300 ENST00000201961.2 0.040201 1 C20orf112 0 __UNKNOWN__ __UNKNOWN__ 20 31108805 31108805 __UNKNOWN__ Intron SNP T T A rs6141745 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31108805T>A ENST00000201961.2 - 3 415 C20orf112_ENST00000375678.3_Intron Q96MY1 NOL4L_HUMAN NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 GGTCTGAGCTTTGGTGGCAGG 0.527 NA T||| 1786 0.356629 0.1225 0.4712 5008 , , NA 17625 0.7808 NA 0.1859 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000201961.2:c.196-80A>T chr20.hg19:g.31108805T>A NA Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6 hg19 0.02 3.944579 GCTxTGG COVERED NOVEL C20orf112-002 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding OTTHUMT00000078629.3 1 6.299215 KEEP 0 0 0 21 653 TT 0.999869 0.999869 0 - 5 60 185 0 0 11.702212 124 60 4425 172 ENST00000201961.2 0.03876 1 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31374259 31374259 __UNKNOWN__ Intron SNP C C T rs2424913 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31374259C>T ENST00000328111.2 + 5 627 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CGCCAGACCCCAGGCCTCCAG 0.577 NA C||| 3446 0.688099 0.6747 0.6398 5008 , , NA 19267 0.9931 NA 0.4125 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NA 0 GRCh37 CS025464 DNMT3B S rs2424913 C ,,,,, 2762,1642 884,994,324 30 31 31 ,,,,, -6.4 0 20 dbSNP_100 31 3841,4753 870,2101,1326 no intron,intron,intron,intron,intron,intron DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 1754,3095,1650 TT,TC,CC 44.694,37.2843,49.1999 ,,,,, ,,,,, 31374259 6603,6395 2202 4297 6499 SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.307-49C>T chr20.hg19:g.31374259C>T NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 2.299646 CCCxAGG COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 0 3.611663 KEEP 0 0 0 12 411 CC 0.993634 0.988748 0 + 7 60 271 0 0 20.746923 59 60 2189 82 ENST00000328111.2 0.106061 0.995084 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31374520 31374520 __UNKNOWN__ Intron SNP A A G rs2424914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31374520A>G ENST00000328111.2 + 5 753 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGTGGCTGGTAGATAATCTGT 0.522 NA G||| 3842 0.767173 0.9539 0.6643 5008 , , NA 19243 0.9931 NA 0.4195 False NA ,,, NA NA NA 2504 0.7127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.432+87A>G chr20.hg19:g.31374520A>G NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 8.986785 GGTxGAT COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 2 6.31743 KEEP 0 0 0 21 624 AA 0.999869 0.999869 0 + 13 60 455 0 0 30.470348 200 60 7006 294 ENST00000328111.2 0.061033 1 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31374991 31374991 __UNKNOWN__ Intron SNP G G A rs4911107 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31374991G>A ENST00000328111.2 + 6 753 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTGGTCACCGACATCCTTTG 0.547 NA G||| 3093 0.617612 0.534 0.611 5008 , , NA 20066 0.9216 NA 0.3628 False NA ,,, NA NA NA 2504 0.684 NA NA NA NA 0 G ,,,,, 2183,2223 573.5+/-383.5 541,1101,561 68 68 68 ,,,,, -7.4 0 20 dbSNP_111 68 3471,5129 499.5+/-375.0 715,2041,1544 no intron,intron,intron,intron,intron,intron DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 1256,3142,2105 AA,AG,GG 40.3605,49.5461,43.4722 ,,,,, ,,,,, 31374991 5654,7352 2203 4300 6503 SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.433-45G>A chr20.hg19:g.31374991G>A NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 4.256644 ACCxACA COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 0 5.751347 KEEP 0 1 19 26 833 GG 0.999988 0.999987 0 + 8 60 287 1 0 19.574937 119 60 3870 172 ENST00000328111.2 0.062992 1 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31383353 31383353 __UNKNOWN__ Intron SNP T T G rs910085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31383353T>G ENST00000328111.2 + 11 1573 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATTGTTGGGTACCTGGGATC 0.527 NA G||| 2929 0.584864 0.4713 0.598 5008 , , NA 20225 0.9177 NA 0.3529 False NA ,,, NA NA NA 2504 0.6247 NA NA NA NA 0 G ,,,,, 1936,2470 623.4+/-394.1 421,1094,688 92 103 99 ,,,,, -2.8 0 20 dbSNP_86 99 3304,5296 645.7+/-400.2 649,2006,1645 no intron,intron,intron,intron,intron,intron DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 1070,3100,2333 GG,GT,TT 38.4186,43.9401,40.2891 ,,,,, ,,,,, 31383353 5240,7766 2203 4300 6503 SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.1252+13T>G chr20.hg19:g.31383353T>G NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 7.094308 GGGxACC COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 0 8.121378 KEEP 0 0 0 27 793 TT 0.999988 0.999988 0 + 7 60 251 0 0 16.042156 149 60 5112 224 ENST00000328111.2 0.044872 1 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31383530 31383530 __UNKNOWN__ Intron SNP C C T rs875041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31383530C>T ENST00000328111.2 + 12 1618 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AGTCATCCCCCTCACACCCTG 0.532 NA T||| 3298 0.658546 0.733 0.6167 5008 , , NA 20308 0.9177 NA 0.3598 False NA ,,, NA NA NA 2504 0.6278 NA NA NA NA 0 T ,,,,, 2917,1489 472.0+/-356.2 966,985,252 101 77 85 ,,,,, -0.2 0 20 dbSNP_86 85 3334,5266 642.2+/-399.8 658,2018,1624 no intron,intron,intron,intron,intron,intron DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 1624,3003,1876 TT,TC,CC 38.7674,33.7948,48.0624 ,,,,, ,,,,, 31383530 6251,6755 2203 4300 6503 SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.1297+30C>T chr20.hg19:g.31383530C>T NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 2.434636 CCCxTCA COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 0 2.708858 KEEP 0 0 0 9 321 CC 0.99254 0.984693 0 + 5 60 193 0 0 14.101964 58 60 2176 84 ENST00000328111.2 0.079365 0.992094 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31386347 31386347 __UNKNOWN__ Silent SNP T T C rs6058891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31386347T>C ENST00000328111.2 + 15 1893 c.1572T>C c.(1570-1572)tgT>tgC p.C524C DNMT3B_ENST00000456297.2_Silent_p.C428C|DNMT3B_ENST00000344505.4_Silent_p.C504C|DNMT3B_ENST00000201963.3_Silent_p.C516C|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Silent_p.C462C|DNMT3B_ENST00000348286.2_Silent_p.C504C|DNMT3B_ENST00000353855.2_Silent_p.C504C NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 524 ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}. NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGGAGCTGTTACATGTGTC 0.642 NA C||| 3785 0.755791 0.913 0.6599 5008 , , NA 17774 0.9931 NA 0.4205 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 C ,,,,, 3670,736 298.7+/-285.4 1540,590,73 44 48 47 1386,1284,1572,1512,1512,1548 4.8 1 20 dbSNP_114 47 3862,4738 607.5+/-395.3 878,2106,1316 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 2418,2696,1389 CC,CT,TT 44.907,16.7045,42.0883 ,,,,, 462/729,428/695,524/854,504/834,504/771,516/846 31386347 7532,5474 2203 4300 6503 SO:0001819 synonymous_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.1572T>C chr20.hg19:g.31386347T>C NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 6.510534 CTGxTAC COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 2 10.865806 KEEP 0 1 37 49 1507 TT 1 1 0 + 8 60 294 0 0 19.068667 169 60 6079 265 ENST00000328111.2 0.045198 1 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31387954 31387954 __UNKNOWN__ Intron SNP C C G rs1997797 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31387954C>G ENST00000328111.2 + 17 2080 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTCTGGCCCCCACAGGCTACC 0.493 NA C||| 3576 0.714058 0.7655 0.6427 5008 , , NA 21132 0.9931 NA 0.4185 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 C ,,,,, 3089,1317 698.0+/-406.3 1097,895,211 138 126 130 ,,,,, -4.6 0 20 dbSNP_92 130 3856,4744 542.4+/-384.2 878,2100,1322 no intron,intron,intron,intron,intron,intron DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 1975,2995,1533 GG,GC,CC 44.8372,29.8911,46.6016 ,,,,, ,,,,, 31387954 6945,6061 2203 4300 6503 SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.1760-5C>G chr20.hg19:g.31387954C>G NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 4.727607 CCCxACA COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 0 3.912032 KEEP 0 0 0 13 449 CC 0.994391 0.994381 0 + 11 60 380 0 0 27.815161 97 60 3589 141 ENST00000328111.2 0.101852 0.999991 DNMT3B 1789 __UNKNOWN__ __UNKNOWN__ 20 31388636 31388636 __UNKNOWN__ Intron SNP T T C rs371416202|rs2424928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31388636T>C ENST00000328111.2 + 18 2226 DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta NA NA C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499) chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634) DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCTCTCTCTTTCAGATTGAA 0.532 NA C||| 3719 0.742612 0.8661 0.6542 5008 , , NA 18988 0.9931 NA 0.4205 False NA ,,, NA NA NA 2504 0.7117 NA NA NA NA 0 C ,,,,, 3450,956 359.1+/-314.7 1347,756,100 164 171 169 ,,,,, 0 0 20 dbSNP_100 169 3861,4739 608.6+/-395.4 879,2103,1318 no intron,intron,intron,intron,intron,intron DNMT3B NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2 ,,,,, 2226,2859,1418 CC,CT,TT 44.8953,21.6977,43.7875 ,,,,, ,,,,, 31388636 7311,5695 2203 4300 6503 SO:0001627 intron_variant CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1 20q11.2 2014-09-17 ENSG00000088305 ENSG00000088305 1789 2979 protein-coding gene gene with protein product 602900 NA 9662389, 10433969 Standard NM_006892 NM_006892 NA Approved uc002wyc.3 Q9UBC3 OTTHUMG00000032226 ENST00000328111.2:c.1906-5T>C chr20.hg19:g.31388636T>C NA A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0 hg19 CCDS13205.1 0.02 6.957269 TCTxTCA COVERED NOVEL DNMT3B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078643.2 3 6.052432 KEEP 0 1 34 32 1000 TT 0.999998 0.999998 0 + 7 60 273 0 0 17.740948 176 60 6399 276 ENST00000328111.2 0.038251 1 EFCAB8 388795 __UNKNOWN__ __UNKNOWN__ 20 31480936 31480936 __UNKNOWN__ Intron SNP C C T rs62208906 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31480936C>T ENST00000400522.4 + 9 852 A8MWE9 EFCB8_HUMAN EF-hand calcium binding domain 8 NA NA calcium ion binding (GO:0005509) endometrium(2) 2 tgtgagccaccgcgcccagcc 0.557 NA C||| 823 0.164337 0.1331 0.0937 5008 , , NA 17659 0.2133 NA 0.1501 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 C 217,1167 15,187,490 66 66 66 -0.5 0 20 dbSNP_129 66 519,2663 39,441,1111 no intron EFCAB8 XM_003118799.2 54,628,1601 TT,TC,CC 16.3105,15.6792,16.1191 31480936 736,3830 692 1591 2283 SO:0001627 intron_variant 20q11.21 2013-01-10 ENSG00000215529 ENSG00000215529 388795 WD repeat domain containing, EF-hand domain containing 34532 protein-coding gene gene with protein product NA Standard XM_371397 XM_006710086 NA Approved A8MWE9 OTTHUMG00000153693 ENST00000400522.4:c.759-44C>T chr20.hg19:g.31480936C>T NA hg19 0.02 4.548793 CACxGCG COVERED NOVEL EFCAB8-001 PUTATIVE mRNA_end_NF|cds_end_NF|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000332144.2 4 8.427137 KEEP 0 0 0 28 977 CC 0.999997 0.999995 0 + 6 60 230 0 0 15.587156 111 60 3934 171 ENST00000400522.4 0.051282 0.999998 BPIFB2 80341 __UNKNOWN__ __UNKNOWN__ 20 31611438 31611438 __UNKNOWN__ 3'UTR SNP C C G rs6059018 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31611438C>G ENST00000170150.3 + 0 1821 NM_025227.1 NP_079503.1 Q8N4F0 BPIB2_HUMAN BPI fold containing family B, member 2 NA NA extracellular vesicular exosome (GO:0070062) lipid binding (GO:0008289) NA cccaccccAGCGGGGAGCAGA 0.587 NA t||| 1422 0.283946 0.3775 0.2147 5008 , , NA 18501 0.1399 NA 0.326 False NA ,,, NA NA NA 2504 0.3119 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF465765 CCDS13210.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000078898 ENSG00000078898 80341 BPI fold containing 16177 protein-coding gene gene with protein product 614108 bactericidal/permeability-increasing protein-like 1 C20orf184, BPIL1 NA 12185532, 21787333 Standard NM_025227 NM_025227 NA Approved dJ726C3.2, LPLUNC2 uc002wyj.4 Q8N4F0 OTTHUMG00000032232 ENST00000170150.3:c.*249C>G chr20.hg19:g.31611438C>G NA Q6UWN3|Q6ZME0|Q8NFQ7 hg19 CCDS13210.1 0.02 10.599429 CAGxGGG COVERED NOVEL BPIFB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078652.2 1 2.397197 KEEP 0 1 34 20 665 CC 0.999869 0.999869 0 + 14 60 493 0 0 32.176181 252 60 8849 338 ENST00000170150.3 0.052632 1 BPIFB6 128859 __UNKNOWN__ __UNKNOWN__ 20 31622768 31622768 __UNKNOWN__ Intron SNP C C A rs6059032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31622768C>A ENST00000349552.1 + 4 452 NM_174897.2 NP_777557.1 Q8NFQ5 BPIB6_HUMAN BPI fold containing family B, member 6 NA NA extracellular region (GO:0005576) lipid binding (GO:0008289) NA TTGCTATACCCCCCAGCATAT 0.562 NA c||| 2544 0.507987 0.4244 0.4654 5008 , , NA 21801 0.7222 NA 0.3907 False NA ,,, NA NA NA 2504 0.5511 NA NA NA NA 0 T 1795,2611 527.6+/-372.2 364,1067,772 57 42 47 -2.9 0 20 dbSNP_114 47 3222,5378 483.6+/-371.2 606,2010,1684 no intron BPIFB6 NM_174897.2 970,3077,2456 AA,AC,CC 37.4651,40.7399,38.5745 31622768 5017,7989 2203 4300 6503 SO:0001627 intron_variant AF465767 CCDS13211.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000167104 ENSG00000167104 128859 BPI fold containing 16504 protein-coding gene gene with protein product 614110 bactericidal/permeability-increasing protein-like 3 BPIL3 NA 12185532, 21787333 Standard NM_174897 NM_174897 NA Approved LPLUNC6 uc010zuc.2 Q8NFQ5 OTTHUMG00000032238 ENST00000349552.1:c.452+50C>A chr20.hg19:g.31622768C>A NA hg19 CCDS13211.1 0.02 18.823672 ACCxCCC COVERED NOVEL BPIFB6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078658.2 3 6.957044 KEEP 0 1 31 34 1186 CC 0.999999 0.999999 0 + 33 60 1131 0 0 76.184771 465 60 16934 650 ENST00000349552.1 0.066265 1 BPIFB6 128859 __UNKNOWN__ __UNKNOWN__ 20 31622839 31622839 __UNKNOWN__ Intron SNP T T C rs6059033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31622839T>C ENST00000349552.1 + 5 452 NM_174897.2 NP_777557.1 Q8NFQ5 BPIB6_HUMAN BPI fold containing family B, member 6 NA NA extracellular region (GO:0005576) lipid binding (GO:0008289) NA CCTAAATTCCTGCACTGGTGC 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 T 2467,1939 623.2+/-394.1 701,1065,437 61 51 55 4.1 0.1 20 dbSNP_114 55 3237,5363 486.3+/-371.9 609,2019,1672 no intron BPIFB6 NM_174897.2 1310,3084,2109 CC,CT,TT 37.6395,44.0082,43.8567 31622839 5704,7302 2203 4300 6503 SO:0001627 intron_variant AF465767 CCDS13211.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000167104 ENSG00000167104 128859 BPI fold containing 16504 protein-coding gene gene with protein product 614110 bactericidal/permeability-increasing protein-like 3 BPIL3 NA 12185532, 21787333 Standard NM_174897 NM_174897 NA Approved LPLUNC6 uc010zuc.2 Q8NFQ5 OTTHUMG00000032238 ENST00000349552.1:c.453-48T>C chr20.hg19:g.31622839T>C NA hg19 CCDS13211.1 0.02 26.304725 TCCxGCA COVERED NOVEL BPIFB6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078658.2 1 14.141642 KEEP 0 0 0 47 1464 TT 1 1 0 + 36 60 1257 0 0 83.503176 574 60 21325 814 ENST00000349552.1 0.059016 1 BPIFB3 359710 __UNKNOWN__ __UNKNOWN__ 20 31647864 31647864 __UNKNOWN__ Intron SNP C C A rs6088084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31647864C>A ENST00000375494.3 + 4 527 NM_182658.1 NP_872599.1 P59826 BPIB3_HUMAN BPI fold containing family B, member 3 NA NA innate immune response (GO:0045087) cytoplasm (GO:0005737)|extracellular region (GO:0005576) lipid binding (GO:0008289) NA CAGCCTGCAACCCTGACCCGC 0.627 NA C||| 2410 0.48123 0.3177 0.4712 5008 , , NA 18636 0.7579 NA 0.3867 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 C 1361,3045 438.4+/-345.3 214,933,1056 62 57 59 0.5 0 20 dbSNP_114 59 3115,5485 463.9+/-366.1 576,1963,1761 no intron BPIFB3 NM_182658.1 790,2896,2817 AA,AC,CC 36.2209,30.8897,34.4149 31647864 4476,8530 2203 4300 6503 SO:0001627 intron_variant AF549189 CCDS13212.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000186190 ENSG00000186190 359710 BPI fold containing 16178 protein-coding gene gene with protein product 615717 chromosome 20 open reading frame 185 C20orf185 NA 11971875, 21787333 Standard NM_182658 NM_182658 NA Approved dJ726C3.4, LPLUNC3, RYA3 uc002wym.1 P59826 OTTHUMG00000032234 ENST00000375494.3:c.527+27C>A chr20.hg19:g.31647864C>A NA Q5TDX7 hg19 CCDS13212.1 0.02 12.32207 CAAxCCT COVERED NOVEL BPIFB3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078654.2 0 8.38055 KEEP 0 0 0 28 955 CC 0.999997 0.999997 0 + 23 60 806 0 0 55.669187 297 60 10837 399 ENST00000375494.3 0.071875 1 BPIFA3 128861 __UNKNOWN__ __UNKNOWN__ 20 31814348 31814348 __UNKNOWN__ Intron SNP G G A rs1570033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31814348G>A ENST00000375454.3 + 5 831 BPIFA3_ENST00000375452.3_Intron|BPIFA3_ENST00000490499.1_Intron NM_178466.3 NP_848561.2 Q9BQP9 BPIA3_HUMAN BPI fold containing family A, member 3 NA NA extracellular region (GO:0005576) lipid binding (GO:0008289) NA CCGAGGGTTAGGGCATATATC 0.378 NA A||| 2842 0.567492 0.9115 0.5403 5008 , , NA 22742 0.4246 NA 0.4831 False NA ,,, NA NA NA 2504 0.3558 NA NA NA NA 0 38 37 37 NA NA 20 NA 31814348 1327 2309 3636 SO:0001627 intron_variant CCDS13216.2, CCDS42865.1 20q11.21 2011-08-04 2011-07-29 2011-07-29 ENSG00000131059 ENSG00000131059 128861 BPI fold containing 16204 protein-coding gene gene with protein product chromosome 20 open reading frame 71 C20orf71 NA 11971875, 21787333 Standard NM_178466 XR_244132 NA Approved bA49G10.4, SPLUNC3 uc002wyr.3 Q9BQP9 OTTHUMG00000032245 ENST00000375454.3:c.621+52G>A chr20.hg19:g.31814348G>A NA Q5JWG8|Q6NZ38 hg19 CCDS13216.2 0.02 13.587071 TTAxGGC COVERED NOVEL BPIFA3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000078672.1 4 4.750841 KEEP 0 1 32 27 979 GG 0.999997 0.999997 0 + 21 60 790 0 0 54.940843 314 60 11592 438 ENST00000375454.3 0.062687 1 CDK5RAP1 51654 __UNKNOWN__ __UNKNOWN__ 20 31981849 31981849 __UNKNOWN__ Silent SNP T T C rs291700 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:31981849T>C ENST00000346416.2 - 4 585 c.432A>G c.(430-432)acA>acG p.T144T CDK5RAP1_ENST00000357886.4_Silent_p.T144T|CDK5RAP1_ENST00000473997.1_Silent_p.T54T|CDK5RAP1_ENST00000339269.5_Silent_p.T144T|CDK5RAP1_ENST00000544843.1_Silent_p.T144T|CDK5RAP1_ENST00000477105.1_5'UTR NM_001278167.1|NM_001278169.1|NM_016408.2 NP_001265096.1|NP_001265098.1|NP_057492.2 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 144 CDK5 activation inhibition.|MTTase N-terminal. NA brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400) cytoplasm (GO:0005737) 4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740) endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TGATAGAGCATGTGACAAGGA 0.403 NA C||| 2983 0.595647 0.4894 0.5764 5008 , , NA 20913 0.5744 NA 0.659 False NA ,,, NA NA NA 2504 0.7096 NA NA NA NA 0 C , 2333,2073 570.1+/-382.8 621,1091,491 106 97 100 162,432 -8.9 0.6 20 dbSNP_79 100 5919,2681 430.3+/-356.5 2064,1791,445 no coding-synonymous,coding-synonymous CDK5RAP1 NM_016082.3,NM_016408.2 , 2685,2882,936 CC,CT,TT 31.1744,47.0495,36.5524 , 54/498,144/588 31981849 8252,4754 2203 4300 6503 SO:0001819 synonymous_variant AF152097 CCDS13219.1, CCDS63255.1 20q11.21 2012-09-20 2002-07-22 2002-07-26 ENSG00000101391 ENSG00000101391 51654 15880 protein-coding gene gene with protein product 608200 chromosome 20 open reading frame 34 C20orf34 NA 10721722, 11882646, 15329498 Standard NM_016408 NM_016408 NA Approved CGI-05, HSPC167, C42 uc002wyy.4 Q96SZ6 OTTHUMG00000032256 ENST00000346416.2:c.432A>G chr20.hg19:g.31981849T>C NA A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0 hg19 CCDS13219.1 0.02 11.364278 GCAxGTG COVERED NOVEL CDK5RAP1-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078696.2 1 4.78495 KEEP 0 5 166 74 2321 TT 1 1 0 - 12 60 437 0 0 27.885211 270 60 10050 452 ENST00000346416.2 0.042553 1 CBFA2T2 9139 __UNKNOWN__ __UNKNOWN__ 20 32161807 32161807 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:32161807T>G ENST00000342704.6 + 2 215 CBFA2T2_ENST00000492345.1_5'UTR|CBFA2T2_ENST00000346541.3_5'UTR|CBFA2T2_ENST00000397800.1_Intron|CBFA2T2_ENST00000397798.2_5'UTR|CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000375279.2_5'UTR NM_001032999.2 NP_001028171.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 NA NA epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944) nucleus (GO:0005634) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 gttgcccaggtgggtctcaaa 0.468 NA NA NA NA NA NA NA NA NA NA Esophageal Squamous(174;142 1955 14837 21276 28041) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF052210 CCDS13221.1, CCDS46590.1 20q11 2007-01-29 ENSG00000078699 ENSG00000078699 9139 Zinc fingers, MYND-type 1536 protein-coding gene gene with protein product 603672 NA 9790752 Standard NM_001032999 XM_006723886 NA Approved MTGR1, ZMYND3 uc002wze.1 O43439 OTTHUMG00000032261 ENST00000342704.6:c.35-32955T>G chr20.hg19:g.32161807T>G NA B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24 hg19 CCDS46590.1 0.02 1.276261 AGGxGGG COVERED NOVEL CBFA2T2-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000471953.1 4 4.732447 KEEP 0 3 19 23 655 TT 0.999957 0.999957 0 + 32 60 285 1 0 11.623943 106 60 3237 211 ENST00000342704.6 0.231884 1 NECAB3 63941 __UNKNOWN__ __UNKNOWN__ 20 32245247 32245247 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:32245247A>G ENST00000375238.4 - 0 1587 NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000246190.6_3'UTR|RP1-63M2.6_ENST00000607224.1_RNA NM_031231.3 NP_112508.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 NA NA protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634) calcium ion binding (GO:0005509) large_intestine(3)|lung(5)|skin(2) 10 GAGGAGGAGCAGAAGCCTGGT 0.677 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB039947 CCDS42866.1, CCDS42867.1 20q11.21 2013-01-10 2007-12-06 2007-12-06 ENSG00000125967 ENSG00000125967 63941 N-terminal EF-hand calcium binding proteins, EF-hand domain containing 15851 protein-coding gene gene with protein product EF-hand calcium binding protein 3 612478 amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein SYTIP2, APBA2BP NA 10833507 Standard NM_031232 NA Approved XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3 uc002wzn.4 Q96P71 OTTHUMG00000032264 ENST00000375238.4:c.*388T>C chr20.hg19:g.32245247A>G NA A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9 hg19 CCDS42867.1 0.02 6.19764 AGCxGAA COVERED NOVEL NECAB3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078717.1 1 15.6407 KEEP 0 0 0 52 1547 AA 1 1 0 - 11 60 377 0 0 24.737836 178 60 6597 302 ENST00000375238.4 0.058201 1 NECAB3 63941 __UNKNOWN__ __UNKNOWN__ 20 32245404 32245404 __UNKNOWN__ 3'UTR SNP G G A rs17124885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:32245404G>A ENST00000375238.4 - 0 1430 NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000246190.6_3'UTR|RP1-63M2.6_ENST00000607224.1_RNA NM_031231.3 NP_112508.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 NA NA protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634) calcium ion binding (GO:0005509) large_intestine(3)|lung(5)|skin(2) 10 CCAGGCAGAAGCCAAAGTAGC 0.547 NA G||| 189 0.0377396 0.0015 0.0346 5008 , , NA 20012 0.1508 NA 0.005 False NA ,,, NA NA NA 2504 0.0061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB039947 CCDS42866.1, CCDS42867.1 20q11.21 2013-01-10 2007-12-06 2007-12-06 ENSG00000125967 ENSG00000125967 63941 N-terminal EF-hand calcium binding proteins, EF-hand domain containing 15851 protein-coding gene gene with protein product EF-hand calcium binding protein 3 612478 amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein SYTIP2, APBA2BP NA 10833507 Standard NM_031232 NA Approved XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3 uc002wzn.4 Q96P71 OTTHUMG00000032264 ENST00000375238.4:c.*231C>T chr20.hg19:g.32245404G>A NA A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9 hg19 CCDS42867.1 0.02 1.965837 GAAxCCA COVERED NOVEL NECAB3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078717.1 0 6.621659 KEEP 0 0 0 22 784 GG 0.999879 0.997042 0 - 5 60 179 0 0 12.435993 66 60 2426 104 ENST00000375238.4 0.070423 0.997163 ZNF341 84905 __UNKNOWN__ __UNKNOWN__ 20 32319894 32319894 __UNKNOWN__ Intron SNP C C T rs2281402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:32319894C>T ENST00000342427.2 + 1 396 ZNF341_ENST00000375200.1_Intron NM_032819.3 NP_116208.3 Q9BYN7 ZN341_HUMAN zinc finger protein 341 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 GCGGCTGTTCCGCGCTGCGCC 0.816 NA C||| 1097 0.21905 0.0091 0.1383 5008 , , NA 4604 0.505 NA 0.1769 False NA ,,, NA NA NA 2504 0.3088 NA NA NA NA 0 2 3 2 NA NA 20 NA 32319894 1108 2351 3459 SO:0001627 intron_variant AK027550 CCDS13227.1, CCDS74719.1 20q11.22 2013-01-08 ENSG00000131061 ENSG00000131061 84905 Zinc fingers, C2H2-type 15992 protein-coding gene gene with protein product NA Standard NM_001282933 NA Approved dJ553F4.3 uc002wzx.3 Q9BYN7 OTTHUMG00000032275 ENST00000342427.2:c.31+36C>T chr20.hg19:g.32319894C>T NA A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5 hg19 CCDS13227.1 0.02 -0.32445 TTCxGCG COVERED NOVEL ZNF341-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078741.2 0 9.860108 KEEP 0 1 32 44 1330 CC 1 0.835716 0 + 3 60 100 0 0 6.913261 34 60 999 113 ENST00000342427.2 0.081081 0.835716 EIF2S2 8894 __UNKNOWN__ __UNKNOWN__ 20 32693123 32693123 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:32693123T>G ENST00000374980.2 - 2 415 NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850) metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 AAAACGCTCATAGAACCAGGG 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 145 132 136 NA NA 20 NA 32693123 2203 4300 6503 SO:0001627 intron_variant M29536 CCDS13231.1 20q11.2 2012-04-17 2002-08-29 ENSG00000125977 ENSG00000125977 8894 Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits 3266 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 67 603908 eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD ) EIF2 NA 3044606 Standard NM_003908 XM_005260605 NA Approved EIF2beta, PPP1R67 uc031rsu.1 P20042 OTTHUMG00000032287 ENST00000374980.2:c.193+50A>C chr20.hg19:g.32693123T>G NA Q9BVU0|Q9UJE4 hg19 CCDS13231.1 0.02 20.730615 TCAxAGA COVERED NOVEL EIF2S2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078765.2 5 42.720282 KEEP 0 0 0 142 4324 TT 1 1 0 - 12 60 467 0 0 28.14185 461 60 17027 788 ENST00000374980.2 0.02537 1 NCOA6 23054 __UNKNOWN__ __UNKNOWN__ 20 33370266 33370266 __UNKNOWN__ Intron SNP T T C rs6060048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:33370266T>C ENST00000374796.2 - 4 2522 NCOA6_ENST00000359003.2_Intron Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 NA NA brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367) histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CAACAATGTATAATTCATAGT 0.244 NA T||| 2393 0.477835 0.4092 0.6671 5008 , , NA 13970 0.6359 NA 0.4881 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF128458 CCDS13241.1, CCDS74720.1 20q11 2008-08-01 ENSG00000198646 ENSG00000198646 23054 15936 protein-coding gene gene with protein product nuclear receptor coactivator RAP250, activating signal cointegrator-2, peroxisome proliferator-activated receptor interacting protein 605299 NA 8724849, 8263591 Standard NM_014071 NM_014071 NA Approved KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC uc002xaw.3 Q14686 OTTHUMG00000032311 ENST00000374796.2:c.49-59A>G chr20.hg19:g.33370266T>C NA A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86 hg19 CCDS13241.1 0.02 7.204108 GTAxAAT COVERED NOVEL NCOA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078811.2 1 8.72449 KEEP 0 0 0 29 900 TT 0.999997 0.999997 0 - 8 60 297 0 0 19.141519 181 60 6463 249 ENST00000374796.2 0.042328 1 MYH7B 57644 __UNKNOWN__ __UNKNOWN__ 20 33584289 33584289 __UNKNOWN__ Silent SNP C C T rs3746438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:33584289C>T ENST00000262873.7 + 27 3302 c.3210C>T c.(3208-3210)acC>acT p.T1070T NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1028 NA membrane (GO:0016020)|myosin filament (GO:0032982) ATP binding (GO:0005524)|motor activity (GO:0003774) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCGCGCTGACCAAGGCCAAGC 0.701 NA C||| 2201 0.439497 0.2738 0.6326 5008 , , NA 17071 0.5893 NA 0.495 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 C 1395,3007 418.0+/-338.2 225,945,1031 27 33 31 3210 0.6 1 20 dbSNP_107 31 3800,4790 512.2+/-377.9 823,2154,1318 no coding-synonymous MYH7B NM_020884.3 1048,3099,2349 TT,TC,CC 44.2375,31.6901,39.9861 1070/1984 33584289 5195,7797 2201 4295 6496 SO:0001819 synonymous_variant AB040945 CCDS42869.1 20q11 2011-09-27 2006-09-29 ENSG00000078814 ENSG00000078814 57644 Myosins / Myosin superfamily : Class II 15906 protein-coding gene gene with protein product 609928 myosin, heavy polypeptide 7B, cardiac muscle, beta NA 11919279, 15014174 Standard NM_020884 XM_006723839 NA Approved KIAA1512, dJ756N5.1, MYH14, MHC14 uc002xbi.2 A7E2Y1 OTTHUMG00000032320 ENST00000262873.7:c.3210C>T chr20.hg19:g.33584289C>T NA Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216 hg19 CCDS42869.1 0.02 4.377024 GACxAAG COVERED NOVEL MYH7B-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000078833.2 3 14.882826 KEEP 0 1 33 61 2147 CC 1 1 0 + 9 60 332 0 0 22.767922 139 60 5200 256 ENST00000262873.7 0.060811 1 TRPC4AP 26133 __UNKNOWN__ __UNKNOWN__ 20 33590358 33590358 __UNKNOWN__ 3'UTR SNP C C T rs4616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:33590358C>T ENST00000252015.2 - 0 3074 TRPC4AP_ENST00000451813.2_3'UTR Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein NA NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511) Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886) phosphatase binding (GO:0019902) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GCCCCGTGCCCCAAGGGATGG 0.587 NA C||| 1885 0.376398 0.0658 0.6167 5008 , , NA 13360 0.5933 NA 0.4841 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF055022 CCDS13246.1, CCDS46591.1 20q11.23 2014-06-13 2003-10-06 2003-10-08 ENSG00000100991 ENSG00000100991 26133 16181 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 158 608430 chromosome 20 open reading frame 188 C20orf188 NA Standard NM_015638 NM_015638 NA Approved DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158 uc002xbk.3 Q8TEL6 OTTHUMG00000032319 ENST00000252015.2:c.*591G>A chr20.hg19:g.33590358C>T NA E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6 hg19 CCDS13246.1 0.02 10.85799 GCCxCAA COVERED NOVEL TRPC4AP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078832.2 1 6.591291 KEEP 0 2 63 44 1553 CC 1 1 0 - 17 60 589 0 0 39.17569 266 60 9631 408 ENST00000252015.2 0.060071 1 TRPC4AP 26133 __UNKNOWN__ __UNKNOWN__ 20 33604042 33604042 __UNKNOWN__ Intron SNP T T C rs3736802 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:33604042T>C ENST00000252015.2 - 10 1308 TRPC4AP_ENST00000539834.1_Intron|TRPC4AP_ENST00000432634.2_Intron|TRPC4AP_ENST00000451813.2_Intron Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein NA NA calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511) Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886) phosphatase binding (GO:0019902) breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) TCAGGACAAGTATCAGTACTG 0.418 NA T||| 2776 0.554313 0.472 0.7133 5008 , , NA 21626 0.6786 NA 0.5736 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055022 CCDS13246.1, CCDS46591.1 20q11.23 2014-06-13 2003-10-06 2003-10-08 ENSG00000100991 ENSG00000100991 26133 16181 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 158 608430 chromosome 20 open reading frame 188 C20orf188 NA Standard NM_015638 NM_015638 NA Approved DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158 uc002xbk.3 Q8TEL6 OTTHUMG00000032319 ENST00000252015.2:c.1219-100A>G chr20.hg19:g.33604042T>C NA E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6 hg19 CCDS13246.1 0.02 4.041005 AAGxATC COVERED NOVEL TRPC4AP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000078832.2 1 8.077849 KEEP 0 0 0 27 804 TT 0.999988 0.999988 0 - 11 60 409 0 0 29.389089 130 60 4467 189 ENST00000252015.2 0.078014 1 UQCC1 55245 __UNKNOWN__ __UNKNOWN__ 20 33971914 33971914 __UNKNOWN__ Intron SNP C C T rs4911494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:33971914C>T ENST00000374380.2 - 3 197 UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000349714.5_Missense_Mutation_p.R51Q|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374385.5_Missense_Mutation_p.R51Q|UQCC1_ENST00000407996.2_Missense_Mutation_p.R51Q|UQCC1_ENST00000542501.1_Missense_Mutation_p.R51Q|UQCC1_ENST00000397554.1_Missense_Mutation_p.R51Q|UQCC1_ENST00000397556.3_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.R51Q|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000359226.2_Missense_Mutation_p.R51Q NM_001184977.1 NP_001171906.1 Q9NVA1 UQCC1_HUMAN ubiquinol-cytochrome c reductase complex assembly factor 1 NA NA cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739) NA ACCACATGCTCGGGACTGGCT 0.433 NA C||| 2642 0.527556 0.3056 0.7104 5008 , , NA 21042 0.7113 NA 0.6203 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 C ,GLN/ARG,GLN/ARG 1612,2794 497.6+/-363.9 303,1006,894 133 111 118 http://www.ncbi.nlm.nih.gov/sites/varvu?gene ,152,152 -9.2 0 20 dbSNP_111 118 5226,3374 641.6+/-399.7 1610,2006,684 yes intron,missense,missense UQCC NM_001184977.1,NM_018244.4,NM_199487.2 ,43,43 1913,3012,1578 TT,TC,CC 39.2326,36.5865,47.4243 ,benign,benign ,51/300,51/274 33971914 6838,6168 2203 4300 6503 SO:0001627 intron_variant AK001712 CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1 20q11.22 2013-09-20 2013-09-20 2013-09-20 ENSG00000101019 ENSG00000101019 55245 Mitochondrial respiratory chain complex assembly factors 15891 protein-coding gene gene with protein product Basic FGF-repressed Zic-binding protein, cytochrome B protein synthesis 3 homolog (S. cerevisiae) 611797 chromosome 20 open reading frame 44, ubiquinol-cytochrome c reductase complex chaperone C20orf44, UQCC NA Standard NM_018244 NM_018244 NA Approved FLJ10850, CBP3, BFZB uc002xcd.3 Q9NVA1 OTTHUMG00000032335 ENST00000374380.2:c.130-9855G>A chr20.hg19:g.33971914C>T NA B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5 hg19 CCDS54458.1 0.02 9.177845 GCTxGGG COVERED 1295 0.592948717948718 154 0.3130081300813008 246 0.6795580110497238 430 0.7517482517482518 465 0.6134564643799473 C 3.625 -0.076667 0.07184 0.365865 0.607674 ENSG00000101019 ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374385;ENST00000407996;ENST00000542501;ENST00000438533;ENST00000397554 T;T;T;T;T;T;T;T 0.45276 1.57;1.55;1.45;1.47;0.9;1.5;1.52;1.41 5.02 -9.24 0.00669 . 1.805390 0.02659 N 0.107256 T 0.00012 0.0000 N 0.02916 -0.46 0.80722 P 0.0 B;B;B;B;B 0.17465 0.006;0.001;0.022;0.0;0.0 B;B;B;B;B 0.09377 0.004;0.001;0.001;0.0;0.0 T 0.36187 -0.9758 9 0.25106 T 0.35 -0.363 1.8464 0.03160 0.2733:0.3467:0.0841:0.2959 rs4911494;rs17331152;rs52824048;rs59962559;rs4911494 51;51;51;51;51 B7Z7J8;B7ZBG3;B1AKV2;B7ZBG4;Q9NVA1 .;.;.;.;UQCC_HUMAN Q 51;51;51;51;51;51;65;51 ENSP00000335364:R51Q;ENSP00000352161:R51Q;ENSP00000363505:R51Q;ENSP00000363506:R51Q;ENSP00000386064:R51Q;ENSP00000445059:R51Q;ENSP00000398531:R65Q;ENSP00000380686:R51Q ENSP00000335364:R51Q R - 2 0 UQCC 33435328 0.000000 0.05858 0.000000 0.03702 0.007000 0.05969 -0.101000 0.10973 -1.403000 0.02053 -1.779000 0.00650 CGA NOVEL UQCC1-018 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000125984.1 1 16.853518 KEEP 0 0 0 56 1887 CC 1 1 0 - 9 60 342 0 0 22.091465 216 60 7748 351 ENST00000374380.2 0.04 1 UQCC1 55245 __UNKNOWN__ __UNKNOWN__ 20 33974163 33974163 __UNKNOWN__ Intron SNP T T A rs6088812 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:33974163T>A ENST00000374380.2 - 2 197 UQCC1_ENST00000491125.1_Intron|UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374385.5_Intron|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000397554.1_Intron|UQCC1_ENST00000397556.3_Intron|UQCC1_ENST00000374384.2_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000359226.2_Intron NM_001184977.1 NP_001171906.1 Q9NVA1 UQCC1_HUMAN ubiquinol-cytochrome c reductase complex assembly factor 1 NA NA cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739) NA ATGGAACACATGGAATGAAAA 0.323 NA T||| 2644 0.527955 0.3064 0.7104 5008 , , NA 16806 0.7113 NA 0.6213 False NA ,,, NA NA NA 2504 0.4131 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001712 CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1 20q11.22 2013-09-20 2013-09-20 2013-09-20 ENSG00000101019 ENSG00000101019 55245 Mitochondrial respiratory chain complex assembly factors 15891 protein-coding gene gene with protein product Basic FGF-repressed Zic-binding protein, cytochrome B protein synthesis 3 homolog (S. cerevisiae) 611797 chromosome 20 open reading frame 44, ubiquinol-cytochrome c reductase complex chaperone C20orf44, UQCC NA Standard NM_018244 NM_018244 NA Approved FLJ10850, CBP3, BFZB uc002xcd.3 Q9NVA1 OTTHUMG00000032335 ENST00000374380.2:c.129+7731A>T chr20.hg19:g.33974163T>A NA B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5 hg19 CCDS54458.1 0.02 2.127598 ACAxGGA COVERED NOVEL UQCC1-018 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000125984.1 0 4.045592 KEEP 0 1 30 24 755 TT 0.999931 0.999879 0 - 5 60 194 0 0 13.211079 93 60 3515 157 ENST00000374380.2 0.05102 0.999948 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 34147286 34147286 __UNKNOWN__ IGR SNP C C T rs117685422 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:34147286C>T NA NA ERGIC3 (1881 upstream) : FER1L4 (22754 downstream) NA NA NA GCGGCGGCAGCGAAACAGATT 0.682 NA C||| 107 0.0213658 0.0 0.0 5008 , , NA 15827 0.1022 NA 0.002 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.34147286C>T NA hg19 0.02 12.97922 CAGxGAA COVERED NOVEL 0 1 31.570266 KEEP 0 0 0 105 3608 CC 1 1 0 11 60 394 0 0 24.196948 288 60 9752 492 0.036789 1 FER1L4 80307 __UNKNOWN__ __UNKNOWN__ 20 34170174 34170174 __UNKNOWN__ RNA SNP C C A rs6119628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:34170174C>A ENST00000430275.2 - 0 3199 A9Z1Z3 FR1L4_HUMAN fer-1-like family member 4, pseudogene (functional) NA NA integral component of membrane (GO:0016021) NA AAATGGGCACCCGGATGTTGG 0.592 NA C||| 3022 0.603435 0.388 0.7565 5008 , , NA 19178 0.8115 NA 0.6789 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL121586 20q11.23 2014-09-11 2014-06-27 ENSG00000088340 ENSG00000088340 80307 - 15801 pseudogene pseudogene fer-1-like 4 (C. elegans), fer-1-like 4 (C. elegans), pseudogene (functional) C20orf124 NA 24063685, 24961353 Standard NR_024377 XR_425236 NA Approved bA563A22B.1, dJ309K20.1 uc002xcx.3 A9Z1Z3 OTTHUMG00000032354 ENST00000430275.2: chr20.hg19:g.34170174C>A NA Q9GZQ9|Q9H646|Q9H8L7 hg19 0.02 9.06447 CACxCGG COVERED NOVEL FER1L4-016 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000443297.1 1 4.582492 KEEP 0 2 65 38 1298 CC 1 1 0 - 14 60 515 0 0 35.69955 201 60 7460 325 ENST00000430275.2 0.065116 1 FER1L4 80307 __UNKNOWN__ __UNKNOWN__ 20 34173046 34173046 __UNKNOWN__ RNA SNP C C T rs1536147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:34173046C>T ENST00000430275.2 - 0 2792 A9Z1Z3 FR1L4_HUMAN fer-1-like family member 4, pseudogene (functional) NA NA integral component of membrane (GO:0016021) NA GTCCCCTCACCGTGAGCATTA 0.622 NA C||| 3091 0.617212 0.3926 0.7608 5008 , , NA 17165 0.8383 NA 0.7048 False NA ,,, NA NA NA 2504 0.501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL121586 20q11.23 2014-09-11 2014-06-27 ENSG00000088340 ENSG00000088340 80307 - 15801 pseudogene pseudogene fer-1-like 4 (C. elegans), fer-1-like 4 (C. elegans), pseudogene (functional) C20orf124 NA 24063685, 24961353 Standard NR_024377 XR_425236 NA Approved bA563A22B.1, dJ309K20.1 uc002xcx.3 A9Z1Z3 OTTHUMG00000032354 ENST00000430275.2: chr20.hg19:g.34173046C>T NA Q9GZQ9|Q9H646|Q9H8L7 hg19 0.02 18.924372 CACxGTG COVERED NOVEL FER1L4-016 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000443297.1 2 10.484264 KEEP 0 4 105 72 2450 CC 1 1 0 - 30 60 1119 0 0 78.637768 411 60 14668 632 ENST00000430275.2 0.068027 1 FER1L4 80307 __UNKNOWN__ __UNKNOWN__ 20 34173178 34173178 __UNKNOWN__ RNA SNP A A G rs6060488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:34173178A>G ENST00000430275.2 - 0 2660 A9Z1Z3 FR1L4_HUMAN fer-1-like family member 4, pseudogene (functional) NA NA integral component of membrane (GO:0016021) NA AGACCAGCACATCGGGGAGGG 0.647 NA G||| 4060 0.810703 0.8147 0.8357 5008 , , NA 17072 0.9137 NA 0.7952 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AL121586 20q11.23 2014-09-11 2014-06-27 ENSG00000088340 ENSG00000088340 80307 - 15801 pseudogene pseudogene fer-1-like 4 (C. elegans), fer-1-like 4 (C. elegans), pseudogene (functional) C20orf124 NA 24063685, 24961353 Standard NR_024377 XR_425236 NA Approved bA563A22B.1, dJ309K20.1 uc002xcx.3 A9Z1Z3 OTTHUMG00000032354 ENST00000430275.2: chr20.hg19:g.34173178A>G NA Q9GZQ9|Q9H646|Q9H8L7 hg19 0.02 14.146131 CACxTCG COVERED NOVEL FER1L4-016 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000443297.1 2 12.307284 KEEP 0 3 103 77 2252 AA 1 1 0 - 17 60 617 0 0 41.075416 299 60 10571 482 ENST00000430275.2 0.053797 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 36231284 36231284 __UNKNOWN__ IGR SNP C C T rs4810922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:36231284C>T NA NA BLCAP (74951 upstream) : LINC00489 (16415 downstream) NA NA NA GCTTTAGCCACGTCAGCAGTT 0.488 NA .||| 3094 0.617812 0.4244 0.7752 5008 , , NA 19740 0.7232 NA 0.7724 False NA ,,, NA NA NA 2504 0.5 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.36231284C>T NA hg19 0.02 2.106654 CCAxGTC COVERED NOVEL 0 1 2.407488 KEEP 0 0 0 8 269 CC 0.99257 0.992376 0 4 60 143 0 0 9.127224 85 60 3105 101 0.044944 0.999804 TGM2 7052 __UNKNOWN__ __UNKNOWN__ 20 36768064 36768064 __UNKNOWN__ Intron SNP A A G rs2072951 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:36768064A>G ENST00000361475.2 - 9 1273 TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Intron NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 NA NA apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TCCCTGGCAGAGGTAGAAAGG 0.557 NA G||| 559 0.111621 0.3048 0.0447 5008 , , NA 21263 0.0903 NA 0.0089 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 G , 1046,3360 719.7+/-409.0 118,810,1275 48 40 43 , 0.5 0 20 dbSNP_96 43 113,8487 812.8+/-407.0 1,111,4188 no intron,intron TGM2 NM_004613.2,NM_198951.1 , 119,921,5463 GG,GA,AA 1.314,23.7404,8.9113 , , 36768064 1159,11847 2203 4300 6503 SO:0001627 intron_variant M98478 CCDS13302.1 20q12 2013-05-02 2013-05-02 ENSG00000198959 ENSG00000198959 7052 2.3.2.13 Transglutaminases 11778 protein-coding gene gene with protein product C polypeptide, protein-glutamine-gamma-glutamyltransferase 190196 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) NA 7912692, 11390390 Standard NM_198951 NM_004613 NA Approved TGC uc002xhr.3 P21980 OTTHUMG00000032437 ENST00000361475.2:c.1100-8T>C chr20.hg19:g.36768064A>G NA E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35 hg19 CCDS13302.1 0.02 6.885947 CAGxGGT COVERED NOVEL TGM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079151.2 1 11.128636 KEEP 0 0 0 37 1080 AA 1 1 0 - 6 60 223 0 0 14.105885 151 60 5597 200 ENST00000361475.2 0.038217 1 TGM2 7052 __UNKNOWN__ __UNKNOWN__ 20 36775135 36775135 __UNKNOWN__ Silent SNP G G A rs2294545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:36775135G>A ENST00000361475.2 - 6 1016 c.843C>T c.(841-843)gcC>gcT p.A281A TGM2_ENST00000536724.1_Silent_p.A221A|TGM2_ENST00000536701.1_Silent_p.A200A NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 281 NA apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) AGGCCACGGCGGCGAAGACCC 0.657 NA g||| 255 0.0509185 0.1528 0.0259 5008 , , NA 17527 0.0337 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 A , 513,3889 36,441,1724 31 28 29 843,843 -11.3 0 20 dbSNP_100 29 16,8572 0,16,4278 no coding-synonymous,coding-synonymous TGM2 NM_004613.2,NM_198951.1 , 36,457,6002 AA,AG,GG 0.1863,11.6538,4.0724 , 281/688,281/549 36775135 529,12461 2201 4294 6495 SO:0001819 synonymous_variant M98478 CCDS13302.1 20q12 2013-05-02 2013-05-02 ENSG00000198959 ENSG00000198959 7052 2.3.2.13 Transglutaminases 11778 protein-coding gene gene with protein product C polypeptide, protein-glutamine-gamma-glutamyltransferase 190196 transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) NA 7912692, 11390390 Standard NM_198951 NM_004613 NA Approved TGC uc002xhr.3 P21980 OTTHUMG00000032437 ENST00000361475.2:c.843C>T chr20.hg19:g.36775135G>A NA E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35 hg19 CCDS13302.1 0.02 13.174039 GGCxGCG COVERED NOVEL TGM2-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079151.2 3 54.689809 KEEP 0 1 32 193 6678 GG 1 1 0 - 9 60 342 0 0 20.359428 339 60 12178 727 ENST00000361475.2 0.025862 1 KIAA1755 85449 __UNKNOWN__ __UNKNOWN__ 20 36851168 36851168 __UNKNOWN__ Intron SNP G G A rs116314829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:36851168G>A ENST00000279024.4 - 10 2540 NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 NA NA breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) gtcccctctcgtcaccacggc 0.552 NA OREG0025921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 281 0.0561102 0.1097 0.0202 5008 , , NA 19663 0.0446 NA 0.0199 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051542 CCDS33467.1 20q11.23 2007-12-07 ENSG00000149633 ENSG00000149633 85449 29372 protein-coding gene gene with protein product NA 11214970 Standard NM_001029864 NM_001029864 NA Approved RP5-1054A22.3 uc002xhy.1 Q5JYT7 OTTHUMG00000032436 ENST00000279024.4:c.2269-169C>T chr20.hg19:g.36851168G>A 866 Q9C0A8 hg19 CCDS33467.1 0.02 6.2048 CTCxTCA COVERED NOVEL KIAA1755-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079144.3 1 9.029252 KEEP 0 0 0 30 1039 GG 0.999997 0.999997 0 - 7 60 246 0 0 15.560626 148 60 5364 222 ENST00000279024.4 0.045161 1 KIAA1755 85449 __UNKNOWN__ __UNKNOWN__ 20 36854106 36854106 __UNKNOWN__ Silent SNP G G T rs140170793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:36854106G>T ENST00000279024.4 - 8 2401 c.2130C>A c.(2128-2130)ccC>ccA p.P710P NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 710 NA breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGTAGGGGAAGGGGCCTTCCA 0.577 NA G||| 51 0.0101837 0.0015 0.0014 5008 , , NA 16832 0.0427 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 G 2,4404 4.2+/-10.8 0,2,2201 61 61 61 2130 3.3 1 20 dbSNP_134 61 3,8597 3.7+/-12.6 0,3,4297 no coding-synonymous KIAA1755 NM_001029864.1 0,5,6498 TT,TG,GG 0.0349,0.0454,0.0384 710/1201 36854106 5,13001 2203 4300 6503 SO:0001819 synonymous_variant AB051542 CCDS33467.1 20q11.23 2007-12-07 ENSG00000149633 ENSG00000149633 85449 29372 protein-coding gene gene with protein product NA 11214970 Standard NM_001029864 NM_001029864 NA Approved RP5-1054A22.3 uc002xhy.1 Q5JYT7 OTTHUMG00000032436 ENST00000279024.4:c.2130C>A chr20.hg19:g.36854106G>T NA Q9C0A8 hg19 CCDS33467.1 0.02 1.92134 GAAxGGG COVERED NOVEL KIAA1755-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079144.3 1 6.922561 KEEP 0 0 0 23 819 GG 0.999892 0.998588 0 - 4 60 148 0 0 9.90507 72 60 2600 121 ENST00000279024.4 0.052632 0.998696 KIAA1755 85449 __UNKNOWN__ __UNKNOWN__ 20 36868191 36868191 __UNKNOWN__ Intron SNP C C T rs1205433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:36868191C>T ENST00000279024.4 - 4 1821 NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 NA NA breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AAGGGGAAAACGTCTCCTCTT 0.458 NA T||| 1429 0.285343 0.2179 0.2277 5008 , , NA 21089 0.3512 NA 0.3191 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051542 CCDS33467.1 20q11.23 2007-12-07 ENSG00000149633 ENSG00000149633 85449 29372 protein-coding gene gene with protein product NA 11214970 Standard NM_001029864 NM_001029864 NA Approved RP5-1054A22.3 uc002xhy.1 Q5JYT7 OTTHUMG00000032436 ENST00000279024.4:c.1550-64G>A chr20.hg19:g.36868191C>T NA Q9C0A8 hg19 CCDS33467.1 0.02 1.733871 AAAxGTC COVERED NOVEL KIAA1755-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079144.3 0 5.717601 KEEP 0 0 0 19 631 CC 0.99986 0.999537 0 - 4 60 135 0 0 8.387792 82 60 2704 119 ENST00000279024.4 0.046512 0.999678 FAM83D 81610 __UNKNOWN__ __UNKNOWN__ 20 37555116 37555116 __UNKNOWN__ Missense_Mutation SNP G G C rs3752290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:37555116G>C ENST00000217429.4 + 1 162 c.121G>C c.(121-123)Gtg>Ctg p.V41L NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 11 NA mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) CCTGGACGAGGTGCCCGCCGC 0.701 NA C||| 2010 0.401358 0.5076 0.3847 5008 , , NA 10968 0.4157 NA 0.3429 False NA ,,, NA NA NA 2504 0.3149 NA NA NA NA 0 C LEU/VAL 1601,2097 394,813,642 8 11 10 121 3.4 0.9 20 dbSNP_107 10 2399,5669 370,1659,2005 no missense FAM83D NM_030919.2 32 764,2472,2647 CC,CG,GG 29.7348,43.2937,33.9963 benign 41/616 37555116 4000,7766 1849 4034 5883 SO:0001583 missense AL023803 CCDS42872.1 20q11.23 2014-03-13 2006-03-23 2006-03-23 ENSG00000101447 ENSG00000101447 81610 16122 protein-coding gene gene with protein product chromosome 20 open reading frame 129 C20orf129 NA 23205133 Standard NM_030919 NA Approved dJ616B8.3 uc002xjg.3 Q9H4H8 OTTHUMG00000032462 ENST00000217429.4:c.121G>C chr20.hg19:g.37555116G>C ENSP00000217429:p.Val41Leu NA B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8 hg19 CCDS42872.1 0.02 13.77351 GAGxTGC COVERED 870 0.3983516483516483 269 0.5467479674796748 136 0.3756906077348066 202 0.3531468531468531 263 0.3469656992084433 C 0.704 -0.789777 0.02884 0.432937 0.297348 ENSG00000101447 ENST00000217429;ENST00000424027 T 0.10477 2.87 5.48 3.44 0.39384 . 0.490125 0.16258 N 0.222396 T 0.00012 0.0000 N 0.02011 -0.69 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.38757 -0.9646 9 0.06891 T 0.86 . 7.0157 0.24887 0.0:0.4204:0.417:0.1626 rs3752290;rs17846649;rs17859744;rs3752290 11;11 Q9H4H8;Q9H4H8-2 FA83D_HUMAN;. L 41;11 ENSP00000217429:V41L ENSP00000217429:V41L V + 1 0 FAM83D 36988530 0.003000 0.15002 0.905000 0.35620 0.017000 0.09413 0.278000 0.18753 0.696000 0.31696 -0.120000 0.15030 GTG NOVEL FAM83D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079211.1 2 7.188891 KEEP 0 9 286 124 4215 GG 1 1 0 + 12 60 399 0 0 23.574133 302 60 10320 580 ENST00000217429.4 0.038217 1 FAM83D 81610 __UNKNOWN__ __UNKNOWN__ 20 37581437 37581437 __UNKNOWN__ 3'UTR SNP A A G rs1130247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:37581437A>G ENST00000217429.4 + 0 2163 NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D NA NA mitotic nuclear division (GO:0007067) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) tgttttggtcaatgacagacc 0.313 NA A||| 1068 0.213259 0.1044 0.255 5008 , , NA 20265 0.3383 NA 0.2068 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL023803 CCDS42872.1 20q11.23 2014-03-13 2006-03-23 2006-03-23 ENSG00000101447 ENSG00000101447 81610 16122 protein-coding gene gene with protein product chromosome 20 open reading frame 129 C20orf129 NA 23205133 Standard NM_030919 NA Approved dJ616B8.3 uc002xjg.3 Q9H4H8 OTTHUMG00000032462 ENST00000217429.4:c.*274A>G chr20.hg19:g.37581437A>G NA B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8 hg19 CCDS42872.1 0.02 10.002966 GTCxATG COVERED NOVEL FAM83D-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079211.1 2 5.114681 KEEP 0 0 0 17 508 AA 0.999366 0.999366 0 + 13 60 453 0 0 28.740351 265 60 9430 315 ENST00000217429.4 0.046763 1 DHX35 60625 __UNKNOWN__ __UNKNOWN__ 20 37643659 37643659 __UNKNOWN__ Intron SNP T T C rs3764703 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:37643659T>C ENST00000252011.3 + 14 1435 DHX35_ENST00000373325.2_Intron|DHX35_ENST00000373323.4_Intron NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 NA NA mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) CTTTAGGGATTTTAGTATCTT 0.358 NA C||| 1837 0.366813 0.3548 0.3703 5008 , , NA 20661 0.4276 NA 0.3479 False NA ,,, NA NA NA 2504 0.3374 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK026412 CCDS13310.1, CCDS54463.1 20q11.22-q12 2003-06-13 2003-06-13 2003-06-13 ENSG00000101452 ENSG00000101452 60625 DEAH-boxes 15861 protein-coding gene gene with protein product DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35 C20orf15, DDX35 NA Standard NM_021931 NM_001190809 NA Approved FLJ22759, KAIA0875 uc002xjh.3 Q9H5Z1 OTTHUMG00000032463 ENST00000252011.3:c.1402+82T>C chr20.hg19:g.37643659T>C NA A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6 hg19 CCDS13310.1 0.02 9.012887 GATxTTA COVERED NOVEL DHX35-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079212.2 3 6.619668 KEEP 0 0 0 22 696 TT 0.999879 0.999879 0 + 8 60 281 0 0 17.171705 212 60 7606 249 ENST00000252011.3 0.036364 1 PLCG1 5335 __UNKNOWN__ __UNKNOWN__ 20 39788488 39788488 __UNKNOWN__ Intron SNP G G A rs151159996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:39788488G>A ENST00000244007.3 + 4 567 PLCG1_ENST00000373272.2_Intron|PLCG1_ENST00000373271.1_Intron P19174 PLCG1_HUMAN phospholipase C, gamma 1 NA NA activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) CCTCGGGGCAGCTATTGATAC 0.552 NA G||| 9 0.00179712 0.0008 0.0 5008 , , NA 18817 0.006 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 G , 1,4405 2.1+/-5.4 0,1,2202 89 83 85 , 1.3 0 20 dbSNP_134 85 0,8600 0,0,4300 no intron,intron PLCG1 NM_002660.2,NM_182811.1 , 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 , , 39788488 1,13005 2203 4300 6503 SO:0001627 intron_variant M34667 CCDS13313.1, CCDS13314.1 20q12-q13.1 2013-02-14 2004-01-29 ENSG00000124181 ENSG00000124181 5335 3.1.4.11 Pleckstrin homology (PH) domain containing, EF-hand domain containing, SH2 domain containing 9065 protein-coding gene gene with protein product 172420 phospholipase C, gamma 1 (formerly subtype 148) PLC1 NA 2167438, 3254788 Standard NM_182811 NM_182811 NA Approved PLC148, PLC-II, PLCgamma1, NCKAP3 uc002xjo.1 P19174 OTTHUMG00000033082 ENST00000244007.3:c.371-22G>A chr20.hg19:g.39788488G>A NA B7ZLY7|B9EGH4|E1P5W4|Q2V575 hg19 CCDS13313.1 0.02 8.357477 GCAxCTA COVERED NOVEL PLCG1-013 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276885.1 1 12.640998 KEEP 0 0 0 42 1495 GG 1 1 0 + 7 60 249 0 0 14.837156 209 60 7778 313 ENST00000244007.3 0.032407 1 PLCG1 5335 __UNKNOWN__ __UNKNOWN__ 20 39792538 39792538 __UNKNOWN__ Intron SNP C C T rs2076145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:39792538C>T ENST00000244007.3 + 12 1207 PLCG1_ENST00000373272.2_Intron|PLCG1_ENST00000373271.1_Intron P19174 PLCG1_HUMAN phospholipase C, gamma 1 NA NA activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032) cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726) calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057) breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) ACCATACCTACCTGCCTCTCC 0.602 NA c||| 648 0.129393 0.0015 0.1585 5008 , , NA 19729 0.4603 NA 0.0278 False NA ,,, NA NA NA 2504 0.045 NA NA NA NA 0 C , 35,4371 40.0+/-72.8 0,35,2168 95 86 89 , 0.8 0 20 dbSNP_96 89 130,8470 66.0+/-128.3 2,126,4172 no intron,intron PLCG1 NM_002660.2,NM_182811.1 , 2,161,6340 TT,TC,CC 1.5116,0.7944,1.2686 , , 39792538 165,12841 2203 4300 6503 SO:0001627 intron_variant M34667 CCDS13313.1, CCDS13314.1 20q12-q13.1 2013-02-14 2004-01-29 ENSG00000124181 ENSG00000124181 5335 3.1.4.11 Pleckstrin homology (PH) domain containing, EF-hand domain containing, SH2 domain containing 9065 protein-coding gene gene with protein product 172420 phospholipase C, gamma 1 (formerly subtype 148) PLC1 NA 2167438, 3254788 Standard NM_182811 NM_182811 NA Approved PLC148, PLC-II, PLCgamma1, NCKAP3 uc002xjo.1 P19174 OTTHUMG00000033082 ENST00000244007.3:c.1011-23C>T chr20.hg19:g.39792538C>T NA B7ZLY7|B9EGH4|E1P5W4|Q2V575 hg19 CCDS13313.1 0.02 23.39495 CTAxCTG COVERED NOVEL PLCG1-013 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000276885.1 1 40.916105 KEEP 0 0 0 136 4748 CC 1 1 0 + 14 60 521 0 0 30.287584 553 60 20417 877 ENST00000244007.3 0.024691 1 LPIN3 64900 __UNKNOWN__ __UNKNOWN__ 20 39980872 39980872 __UNKNOWN__ Intron SNP C C T rs6102366 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:39980872C>T ENST00000373257.3 + 9 1454 NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 NA NA fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) phosphatidate phosphatase activity (GO:0008195) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) TATGTTCGACCATGGCCAAGC 0.592 NA T||| 1060 0.211661 0.2882 0.1801 5008 , , NA 19441 0.4841 NA 0.0328 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 T 1119,3287 717.1+/-408.7 152,815,1236 80 74 76 -9.9 0 20 dbSNP_114 76 151,8449 812.1+/-407.1 2,147,4151 no intron LPIN3 NM_022896.1 154,962,5387 TT,TC,CC 1.7558,25.3972,9.7647 39980872 1270,11736 2203 4300 6503 SO:0001627 intron_variant AL132654 CCDS33469.1 20q11.2-q12 2006-04-04 2002-05-23 ENSG00000132793 ENSG00000132793 64900 14451 protein-coding gene gene with protein product 605520 lipin 3-like LIPN3L NA 11138012 Standard NM_022896 XM_005260515 NA Approved SMP2 uc002xjx.3 Q9BQK8 OTTHUMG00000033056 ENST00000373257.3:c.1363+12C>T chr20.hg19:g.39980872C>T NA B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5 hg19 CCDS33469.1 0.02 10.244125 GACxATG COVERED NOVEL LPIN3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080393.1 2 10.835409 KEEP 0 0 0 36 1295 CC 0.999999 0.999999 0 + 10 60 352 0 0 21.019737 285 60 10822 396 ENST00000373257.3 0.033898 1 LPIN3 64900 __UNKNOWN__ __UNKNOWN__ 20 39985597 39985597 __UNKNOWN__ Intron SNP A A G rs6102369 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:39985597A>G ENST00000373257.3 + 15 1894 NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 NA NA fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) phosphatidate phosphatase activity (GO:0008195) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GCCCGAGGGGATCGGAGGCCA 0.587 NA A||| 1113 0.222244 0.2965 0.1902 5008 , , NA 21023 0.496 NA 0.0338 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL132654 CCDS33469.1 20q11.2-q12 2006-04-04 2002-05-23 ENSG00000132793 ENSG00000132793 64900 14451 protein-coding gene gene with protein product 605520 lipin 3-like LIPN3L NA 11138012 Standard NM_022896 XM_005260515 NA Approved SMP2 uc002xjx.3 Q9BQK8 OTTHUMG00000033056 ENST00000373257.3:c.1804-83A>G chr20.hg19:g.39985597A>G NA B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5 hg19 CCDS33469.1 0.02 6.258615 GGGxTCG COVERED NOVEL LPIN3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080393.1 1 7.221674 KEEP 0 0 0 24 765 AA 0.999909 0.999909 0 + 11 60 394 0 0 26.593192 172 60 5936 238 ENST00000373257.3 0.060109 1 LPIN3 64900 __UNKNOWN__ __UNKNOWN__ 20 39988746 39988746 __UNKNOWN__ 3'UTR SNP G G A rs12625592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:39988746G>A ENST00000373257.3 + 0 3887 EMILIN3_ENST00000332312.3_3'UTR NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 NA NA fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634) phosphatidate phosphatase activity (GO:0008195) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CTGCTGTGGGGGAAACTGAGG 0.552 NA G||| 714 0.142572 0.0439 0.1571 5008 , , NA 18149 0.4752 NA 0.0328 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL132654 CCDS33469.1 20q11.2-q12 2006-04-04 2002-05-23 ENSG00000132793 ENSG00000132793 64900 14451 protein-coding gene gene with protein product 605520 lipin 3-like LIPN3L NA 11138012 Standard NM_022896 XM_005260515 NA Approved SMP2 uc002xjx.3 Q9BQK8 OTTHUMG00000033056 ENST00000373257.3:c.*1240G>A chr20.hg19:g.39988746G>A NA B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5 hg19 CCDS33469.1 0.02 4.476521 GGGxGAA COVERED NOVEL LPIN3-001 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080393.1 2 9.029074 KEEP 0 0 0 30 1054 GG 0.999997 0.999997 0 + 6 60 216 0 0 13.567241 142 60 5198 222 ENST00000373257.3 0.040541 1 PTPRT 11122 __UNKNOWN__ __UNKNOWN__ 20 40707709 40707709 __UNKNOWN__ 3'UTR SNP G G A rs6102663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:40707709G>A ENST00000373187.1 - 0 6135 PTPRT_ENST00000356100.2_3'UTR|PTPRT_ENST00000373201.1_3'UTR|PTPRT_ENST00000373184.1_3'UTR|PTPRT_ENST00000373198.4_3'UTR|PTPRT_ENST00000373193.3_3'UTR|PTPRT_ENST00000373190.1_3'UTR O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T NA NA cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACCTGAGGCTGTCAGATATTG 0.522 NA G||| 2316 0.46246 0.5287 0.3617 5008 , , NA 18588 0.5159 NA 0.3996 False NA ,,, NA NA NA 2504 0.454 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF043644 CCDS42874.1, CCDS68127.1 20q12-q13 2013-02-11 ENSG00000196090 ENSG00000196090 11122 Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing 9682 protein-coding gene gene with protein product 608712 NA 9486824, 9602027 Standard NM_133170 NA Approved RPTPrho, KIAA0283 uc010ggj.3 O14522 OTTHUMG00000033040 ENST00000373187.1:c.*1810C>T chr20.hg19:g.40707709G>A NA A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7 hg19 CCDS42874.1 0.02 6.73644 GCTxTCA COVERED NOVEL PTPRT-002 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000080315.1 1 3.2441 KEEP 0 1 29 21 727 GG 0.999879 0.999879 0 - 7 60 262 0 0 16.798182 167 60 6258 228 ENST00000373187.1 0.04023 1 L3MBTL1 26013 __UNKNOWN__ __UNKNOWN__ 20 42157405 42157405 __UNKNOWN__ Intron SNP C C T rs117332524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:42157405C>T ENST00000427442.2 + 8 1044 L3MBTL1_ENST00000373134.1_Intron|L3MBTL1_ENST00000444063.1_Intron|L3MBTL1_ENST00000373135.3_Intron|L3MBTL1_ENST00000457824.1_Intron|L3MBTL1_ENST00000418998.1_Intron Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) NA NA chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 ACAATTTCCCCGTAGGAACAG 0.547 NA C||| 18 0.00359425 0.0015 0.0014 5008 , , NA 19794 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C , 16,4390 23.3+/-48.9 0,16,2187 78 69 72 , -0.3 0 20 dbSNP_132 72 0,8600 0,0,4300 no intron,intron L3MBTL1 NM_015478.6,NM_032107.4 , 0,16,6487 TT,TC,CC 0.0,0.3631,0.123 , , 42157405 16,12990 2203 4300 6503 SO:0001627 intron_variant U89358 CCDS13319.1, CCDS46602.1, CCDS46602.2 20q13.12 2013-01-10 2010-09-03 2010-09-03 ENSG00000185513 ENSG00000185513 26013 Zinc fingers, C2HC-type containing, Sterile alpha motif (SAM) domain containing 15905 protein-coding gene gene with protein product lethal (3) malignant brain tumor l(3) 608802 l(3)mbt (Drosophila)-like, l(3)mbt-like (Drosophila) L3MBTL NA 10445843, 17540172 Standard NM_032107 NM_032107 NA Approved ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681 uc010zwh.2 Q9Y468 OTTHUMG00000032503 ENST00000427442.2:c.885+20C>T chr20.hg19:g.42157405C>T NA B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9 hg19 CCDS46602.2 0.02 3.865692 CCCxGTA COVERED NOVEL L3MBTL1-007 KNOWN upstream_ATG|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079300.3 1 4.815237 KEEP 0 0 0 16 537 CC 0.997832 0.997832 0 + 5 60 181 0 0 11.154623 133 60 4588 182 ENST00000427442.2 0.036232 1 OSER1 51526 __UNKNOWN__ __UNKNOWN__ 20 42831550 42831550 __UNKNOWN__ Intron SNP C C T rs2232287 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:42831550C>T ENST00000372970.2 - 5 372 OSER1_ENST00000255174.2_Intron Q9NX31 OSER1_HUMAN oxidative stress responsive serine-rich 1 NA NA cellular response to hydrogen peroxide (GO:0070301) NA AAGGAAAATCCAATACTATTA 0.353 NA C||| 75 0.014976 0.0 0.0144 5008 , , NA 17638 0.0585 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 C 12,4388 12.9+/-30.5 0,12,2188 47 43 45 4.3 0.1 20 dbSNP_98 45 57,8541 30.1+/-81.4 0,57,4242 no intron C20orf111 NM_016470.7 0,69,6430 TT,TC,CC 0.6629,0.2727,0.5309 42831550 69,12929 2200 4299 6499 SO:0001627 intron_variant AL035447 CCDS13327.1 20q13.11 2013-05-17 2013-05-17 2013-05-17 ENSG00000132823 ENSG00000132823 51526 16105 protein-coding gene gene with protein product peroxide-inducible transcript 1, oxidative stress-responsive 1 chromosome 20 open reading frame 111 C20orf111 NA 17148688 Standard NM_016470 NM_016470 NA Approved dJ1183I21.1, HSPC207, Perit1, Osr1 Q9NX31 OTTHUMG00000032518 ENST00000372970.2:c.191+50G>A chr20.hg19:g.42831550C>T NA B2RCK4|O95912|Q9NZ84|Q9P0R8 hg19 CCDS13327.1 0.02 4.804565 ATCxAAT COVERED NOVEL OSER1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079334.2 0 14.431147 KEEP 0 0 0 48 1668 CC 1 0.999999 0 - 7 60 264 0 0 18.1033 115 60 4120 206 ENST00000372970.2 0.057377 0.999999 GDAP1L1 78997 __UNKNOWN__ __UNKNOWN__ 20 42908393 42908393 __UNKNOWN__ 3'UTR SNP A A G rs62205998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:42908393A>G ENST00000342560.5 + 0 1645 NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 NA NA endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CGACATCAAGACTCAACTCCT 0.587 NA A||| 65 0.0129792 0.0 0.0086 5008 , , NA 18400 0.0506 NA 0.003 False NA ,,, NA NA NA 2504 0.0051 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1 20q12 2012-02-09 2012-02-09 ENSG00000124194 ENSG00000124194 78997 4213 protein-coding gene gene with protein product NA Standard NM_024034 NM_024034 NA Approved uc010zwl.3 Q96MZ0 OTTHUMG00000032530 ENST00000342560.5:c.*453A>G chr20.hg19:g.42908393A>G NA B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5 hg19 CCDS13328.1 0.02 28.621698 AAGxCTC COVERED 28 0.01282051282051282 0 0.0 4 0.011049723756906077 21 0.03671328671328671 3 0.00395778364116095 A 14.73 2.623817 0.46840 . . ENSG00000124194 ENST00000262604;ENST00000447658 D 0.97089 -4.24 5.55 5.55 0.83447 . . . . . D 0.91429 0.7295 . . . 0.80722 D 1 . . . . . . D 0.88943 0.3381 6 0.54805 T 0.06 . 12.0819 0.53675 1.0:0.0:0.0:0.0 rs62205998 . . . A 124;120 ENSP00000391714:T120A ENSP00000262604:T124A T + 1 0 GDAP1L1 42341807 0.101000 0.21875 0.989000 0.46669 0.856000 0.48823 1.466000 0.35310 2.107000 0.64212 0.477000 0.44152 ACT NOVEL GDAP1L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079356.1 2 44.815679 KEEP 0 0 0 149 4634 AA 1 1 0 + 20 60 752 0 0 45.640065 655 60 23175 1038 ENST00000342560.5 0.02963 1 TTPAL 79183 __UNKNOWN__ __UNKNOWN__ 20 43119741 43119741 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43119741T>A ENST00000372904.3 + 0 2731 TTPAL_ENST00000262605.4_3'UTR NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like NA NA intracellular (GO:0005622)|membrane (GO:0016020) transporter activity (GO:0005215) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 aaaaaaaaaaTTTTTTTTTTT 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC003071 CCDS13332.2 20q13.12 2008-06-23 2008-06-23 2008-06-23 ENSG00000124120 ENSG00000124120 79183 16114 protein-coding gene gene with protein product chromosome 20 open reading frame 121 C20orf121 NA Standard NM_024331 NM_024331 NA Approved dJ179M20.3 uc002xmd.2 Q9BTX7 OTTHUMG00000032536 ENST00000372904.3:c.*1559T>A chr20.hg19:g.43119741T>A NA E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8 hg19 CCDS13332.2 0.02 -0.227703 AAAxTTT COVERED NOVEL TTPAL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106886.2 18 3.005741 KEEP 2 0 0 10 271 TT 0.99254 0.578582 0 + 6 60 197 0 0 17.767954 11 60 363 55 ENST00000372904.3 0.352941 0.58293 TTPAL 79183 __UNKNOWN__ __UNKNOWN__ 20 43120704 43120704 __UNKNOWN__ 3'UTR SNP G G T rs572148895 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43120704G>T ENST00000372904.3 + 0 3694 TTPAL_ENST00000262605.4_3'UTR NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like NA NA intracellular (GO:0005622)|membrane (GO:0016020) transporter activity (GO:0005215) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 CTGCCTCCGGGAGCTGCTTGC 0.473 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 19425 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC003071 CCDS13332.2 20q13.12 2008-06-23 2008-06-23 2008-06-23 ENSG00000124120 ENSG00000124120 79183 16114 protein-coding gene gene with protein product chromosome 20 open reading frame 121 C20orf121 NA Standard NM_024331 NM_024331 NA Approved dJ179M20.3 uc002xmd.2 Q9BTX7 OTTHUMG00000032536 ENST00000372904.3:c.*2522G>T chr20.hg19:g.43120704G>T NA E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8 hg19 CCDS13332.2 0.02 3.886568 CGGxAGC COVERED NOVEL TTPAL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106886.2 2 12.039207 KEEP 0 0 0 40 1413 GG 1 1 0 + 6 60 221 0 0 14.098626 140 60 5120 224 ENST00000372904.3 0.041096 1 TOMM34 10953 __UNKNOWN__ __UNKNOWN__ 20 43588802 43588802 __UNKNOWN__ Intron SNP A A G rs2234200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43588802A>G ENST00000372813.3 - 1 280 NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 NA NA protein targeting to mitochondrion (GO:0006626) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634) heat shock protein binding (GO:0031072) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) TGGTTGCGGGAGTTGGAGGAG 0.731 NA G||| 1682 0.335863 0.4962 0.3934 5008 , , NA 9905 0.3214 NA 0.2744 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G 1150,2716 178,794,961 3 4 4 -2.9 0 20 dbSNP_98 4 1498,6280 174,1150,2565 no intron TOMM34 NM_006809.4 352,1944,3526 GG,GA,AA 19.2594,29.7465,22.7413 43588802 2648,8996 1933 3889 5822 SO:0001627 intron_variant U58970 CCDS13340.1 20q12-q13.1 2013-01-10 ENSG00000025772 ENSG00000025772 10953 Tetratricopeptide (TTC) repeat domain containing 15746 protein-coding gene gene with protein product outer mitochondrial membrane translocase (34kD) NA 9324309 Standard NM_006809 NM_006809 NA Approved TOM34, HTOM34P uc002xmy.3 Q15785 OTTHUMG00000032552 ENST00000372813.3:c.127+45T>C chr20.hg19:g.43588802A>G NA Q53GH9|Q6IBN7|Q9NTZ3 hg19 CCDS13340.1 0.02 2.143411 GGGxGTT COVERED NOVEL TOMM34-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079390.3 2 7.316609 KEEP 0 2 38 38 1068 AA 1 0.999622 0 - 4 60 156 0 0 10.509243 81 60 2550 134 ENST00000372813.3 0.047059 0.999622 STK4 6789 __UNKNOWN__ __UNKNOWN__ 20 43705551 43705551 __UNKNOWN__ 3'UTR SNP C C G rs6073627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43705551C>G ENST00000372806.3 + 0 3293 STK4_ENST00000499879.2_3'UTR NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 NA NA apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) GGCTTGGCAACTGAAATAGCT 0.393 NA C||| 618 0.123403 0.0174 0.1081 5008 , , NA 21115 0.25 NA 0.169 False NA ,,, NA NA NA 2504 0.1002 NA NA NA GBM(187;1039 2137 11798 21916 33213) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13341.1 20q11.2-q13.2 2014-09-17 ENSG00000101109 ENSG00000101109 6789 11408 protein-coding gene gene with protein product mammalian sterile 20-like 1, yeast Ste20-like, kinase responsive to stress 2 604965 NA 8816758, 9545236, 11517310 Standard NM_006282 NM_006282 NA Approved MST1, KRS2, YSK3 uc002xnb.3 Q13043 OTTHUMG00000033059 ENST00000372806.3:c.*1734C>G chr20.hg19:g.43705551C>G NA B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4 hg19 CCDS13341.1 0.02 9.919407 CAAxTGA COVERED NOVEL STK4-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080401.4 1 8.728521 KEEP 0 0 0 29 1053 CC 0.999997 0.999997 0 + 11 60 430 0 0 29.285122 209 60 7845 291 ENST00000372806.3 0.05 1 KCNS1 3787 __UNKNOWN__ __UNKNOWN__ 20 43722017 43722017 __UNKNOWN__ 3'UTR SNP G G T rs6124687 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43722017G>T ENST00000306117.1 - 0 3471 NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459) endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CTTTTTGAGGGCCAGGTCTCT 0.463 NA G||| 538 0.107428 0.0068 0.1297 5008 , , NA 19546 0.13 NA 0.2256 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF043473 CCDS13342.1 20q12 2011-07-05 ENSG00000124134 ENSG00000124134 3787 Potassium channels, Voltage-gated ion channels / Potassium channels 6300 protein-coding gene gene with protein product 602905 NA 9305895, 16382104 Standard NM_002251 NM_002251 NA Approved Kv9.1 uc002xnc.3 Q96KK3 OTTHUMG00000033079 ENST00000306117.1:c.*1494C>A chr20.hg19:g.43722017G>T NA A2RUL9|B7ZM31|O43652|Q6DJU6 hg19 CCDS13342.1 0.02 4.106259 AGGxCCA COVERED NOVEL KCNS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080507.3 3 6.019567 KEEP 0 0 0 20 721 GG 0.999863 0.999862 0 - 8 60 274 0 0 18.40189 114 60 4202 166 ENST00000306117.1 0.065574 0.999999 KCNS1 3787 __UNKNOWN__ __UNKNOWN__ 20 43728070 43728070 __UNKNOWN__ Intron SNP T T C rs6073643 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43728070T>C ENST00000306117.1 - 3 394 KCNS1_ENST00000537075.1_Intron NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 NA NA potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459) endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) tgaccttgaatcttgactctc 0.398 NA C||| 1189 0.23742 0.3555 0.2089 5008 , , NA 20985 0.1716 NA 0.2913 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF043473 CCDS13342.1 20q12 2011-07-05 ENSG00000124134 ENSG00000124134 3787 Potassium channels, Voltage-gated ion channels / Potassium channels 6300 protein-coding gene gene with protein product 602905 NA 9305895, 16382104 Standard NM_002251 NM_002251 NA Approved Kv9.1 uc002xnc.3 Q96KK3 OTTHUMG00000033079 ENST00000306117.1:c.3-190A>G chr20.hg19:g.43728070T>C NA A2RUL9|B7ZM31|O43652|Q6DJU6 hg19 CCDS13342.1 0.02 3.47578 GAAxCTT COVERED NOVEL KCNS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080507.3 0 2.708004 KEEP 0 0 0 9 277 TT 0.99254 0.99254 0 - 7 60 238 0 0 15.144916 130 60 4618 148 ENST00000306117.1 0.051095 1 WFDC5 149708 __UNKNOWN__ __UNKNOWN__ 20 43738168 43738168 __UNKNOWN__ 3'UTR SNP T T C rs6130753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43738168T>C ENST00000372789.4 - 0 942 WFDC5_ENST00000307971.4_3'UTR NM_145652.3 NP_663627.1 Q8TCV5 WFDC5_HUMAN WAP four-disulfide core domain 5 NA NA extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) attaagtaaatggtggtacag 0.323 NA T||| 682 0.136182 0.0182 0.183 5008 , , NA 19537 0.127 NA 0.2942 False NA ,,, NA NA NA 2504 0.1094 NA NA NA NSCLC(199;98 2227 9943 13455 41914) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY038181 CCDS33475.1 20q13.11 2013-01-21 ENSG00000175121 ENSG00000175121 149708 WAP four-disulfide core domain containing 20477 protein-coding gene gene with protein product 605161 NA 12206714, 10680116 Standard NM_145652 NA Approved WAP1, dJ211D12.5 uc002xne.2 Q8TCV5 OTTHUMG00000046411 ENST00000372789.4:c.*482A>G chr20.hg19:g.43738168T>C NA Q5H981|Q6UWE4 hg19 CCDS33475.1 0.02 6.239897 AAAxGGT COVERED NOVEL WFDC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000107193.1 2 5.716584 KEEP 0 0 0 19 583 TT 0.99986 0.99986 0 - 6 60 222 0 0 14.108732 145 60 5249 202 ENST00000372789.4 0.039735 1 WFDC5 149708 __UNKNOWN__ __UNKNOWN__ 20 43739100 43739100 __UNKNOWN__ Missense_Mutation SNP G G A rs79417830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:43739100G>A ENST00000372789.4 - 3 396 c.308C>T c.(307-309)tCg>tTg p.S103L WFDC5_ENST00000307971.4_Missense_Mutation_p.S103L NM_145652.3 NP_663627.1 Q8TCV5 WFDC5_HUMAN WAP four-disulfide core domain 5 103 WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}. NA extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CTTTTTGCCCGAGCAGTCTGA 0.652 NA G||| 42 0.00838658 0.0 0.0 5008 , , NA 19114 0.0308 NA 0.0099 False NA ,,, NA NA NA 2504 0.001 NA NA NA NSCLC(199;98 2227 9943 13455 41914) NA 0 G LEU/SER 6,4400 9.9+/-24.2 0,6,2197 34 33 33 308 -4.1 0 20 dbSNP_131 33 44,8556 28.5+/-78.6 0,44,4256 yes missense WFDC5 NM_145652.3 145 0,50,6453 AA,AG,GG 0.5116,0.1362,0.3844 probably-damaging 103/124 43739100 50,12956 2203 4300 6503 SO:0001583 missense AY038181 CCDS33475.1 20q13.11 2013-01-21 ENSG00000175121 ENSG00000175121 149708 WAP four-disulfide core domain containing 20477 protein-coding gene gene with protein product 605161 NA 12206714, 10680116 Standard NM_145652 NA Approved WAP1, dJ211D12.5 uc002xne.2 Q8TCV5 OTTHUMG00000046411 ENST00000372789.4:c.308C>T chr20.hg19:g.43739100G>A ENSP00000361875:p.Ser103Leu NA Q5H981|Q6UWE4 hg19 CCDS33475.1 0.02 6.516924 CCCxAGC COVERED 29 0.013278388278388278 0 0.0 0 0.0 19 0.033216783216783216 10 0.013192612137203167 G 14.62 2.590141 0.46214 0.001362 0.005116 ENSG00000175121 ENST00000372789;ENST00000307971 T;T 0.72505 -0.66;-0.66 5.08 -4.1 0.03940 Whey acidic protein, 4-disulphide core (5);4-disulphide core (1); 3.796880 0.01476 N 0.016478 T 0.40040 0.1101 L 0.48260 1.515 0.09310 N 1 D 0.53462 0.96 P 0.46362 0.514 T 0.55049 -0.8201 10 0.33141 T 0.24 1.086 4.7497 0.13054 0.0827:0.1233:0.1926:0.6014 . 103 Q8TCV5 WFDC5_HUMAN L 103 ENSP00000361875:S103L;ENSP00000312381:S103L ENSP00000312381:S103L S - 2 0 WFDC5 43172514 0.000000 0.05858 0.000000 0.03702 0.050000 0.14768 -0.724000 0.04947 -1.240000 0.02529 0.467000 0.42956 TCG NOVEL WFDC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000107193.1 0 8.426739 KEEP 0 0 0 28 947 GG 0.999997 0.999997 0 - 7 60 225 0 0 13.525956 158 60 5332 229 ENST00000372789.4 0.042424 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 44144272 44144272 __UNKNOWN__ IGR SNP G G T rs6032262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44144272G>T NA NA SPINT3 (8 upstream) : WFDC6 (18562 downstream) NA NA NA CAGTGGCTCAGCCTGGGGTTG 0.562 NA G||| 342 0.0682907 0.0182 0.0418 5008 , , NA 18345 0.1518 NA 0.0149 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 G 22,1362 0,22,670 35 34 35 1.1 0 20 dbSNP_114 35 51,3131 0,51,1540 no near-gene-5 0,73,2210 TT,TG,GG 1.6028,1.5896,1.5988 44144272 73,4493 692 1591 2283 SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.44144272G>T NA hg19 0.02 10.992308 TCAxCCT COVERED NOVEL 0 0 13.845422 KEEP 0 0 0 46 1659 GG 1 1 0 11 60 413 0 0 26.446846 267 60 9967 395 0.039568 1 WFDC10A 140832 __UNKNOWN__ __UNKNOWN__ 20 44259673 44259673 __UNKNOWN__ 3'UTR SNP G G T rs1487322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44259673G>T ENST00000372643.3 + 0 544 WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A NA NA extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) AGAGTGGGCTGGGATGTGCAT 0.483 NA G||| 1866 0.372604 0.3903 0.2565 5008 , , NA 21726 0.4266 NA 0.3231 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 G , 1658,2748 506.6+/-366.4 304,1050,849 136 104 115 , -1.9 0 20 dbSNP_88 115 2767,5833 438.5+/-358.9 474,1819,2007 no utr-3,intron WFDC10A,WFDC9 NM_080753.2,NM_147198.3 , 778,2869,2856 TT,TG,GG 32.1744,37.6305,34.0228 , , 44259673 4425,8581 2203 4300 6503 SO:0001624 3_prime_UTR_variant AL031671 CCDS13363.1 20q13.11 2013-01-21 2003-02-21 2003-02-21 ENSG00000180305 ENSG00000180305 140832 WAP four-disulfide core domain containing 16139 protein-coding gene gene with protein product chromosome 20 open reading frame 146 C20orf146 NA 12206714 Standard NM_080753 NA Approved dJ688G8.3, WAP10 uc002xoz.3 Q9H1F0 OTTHUMG00000046331 ENST00000372643.3:c.*16G>T chr20.hg19:g.44259673G>T NA A2RRE9|Q5TGZ7 hg19 CCDS13363.1 0.02 14.811832 GCTxGGA COVERED NOVEL WFDC10A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106944.2 3 5.846712 KEEP 0 1 33 31 1068 GG 0.999997 0.999997 0 + 11 60 414 0 0 24.926907 377 60 14192 488 ENST00000372643.3 0.028351 1 WFDC10B 280664 __UNKNOWN__ __UNKNOWN__ 20 44313483 44313483 __UNKNOWN__ Missense_Mutation SNP T T C rs145459231 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44313483T>C ENST00000330523.5 - 4 438 c.208A>G c.(208-210)Atg>Gtg p.M70V WFDC10B_ENST00000335769.2_Missense_Mutation_p.M86V NM_172006.2 NP_742003.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 70 WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}. NA extracellular region (GO:0005576) peptidase inhibitor activity (GO:0030414) p.M70V(1) lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) AGGATGCTCATACAAATGTTC 0.483 NA T||| 31 0.0061901 0.0 0.0 5008 , , NA 22282 0.0298 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T VAL/MET,VAL/MET 5,4401 9.9+/-24.2 0,5,2198 217 166 184 208,256 -5 0 20 dbSNP_134 184 0,8600 0,0,4300 yes missense,missense WFDC10B NM_172006.2,NM_172131.2 21,21 0,5,6498 CC,CT,TT 0.0,0.1135,0.0384 possibly-damaging,possibly-damaging 70/74,86/90 44313483 5,13001 2203 4300 6503 SO:0001583 missense AF454506 CCDS13365.1, CCDS13366.1 20q13.12 2013-01-21 ENSG00000182931 ENSG00000182931 280664 WAP four-disulfide core domain containing 20479 protein-coding gene gene with protein product NA 12206714 Standard NM_172006 NA Approved WAP12 uc002xpb.3 Q8IUB3 OTTHUMG00000130227 ENST00000330523.5:c.208A>G chr20.hg19:g.44313483T>C ENSP00000327628:p.Met70Val NA A6PVD7|Q0VAG0|Q0VAG1|Q5TGZ5|Q8IUB4 hg19 CCDS13366.1 0.02 15.339699 TCAxACA COVERED 13 0.005952380952380952 0 0.0 0 0.0 13 0.022727272727272728 0 0.0 T 10.81 1.455473 0.26161 0.001135 0.0 ENSG00000182931 ENST00000330523;ENST00000335769 T;T 0.20200 2.09;2.09 3.9 -5.0 0.03001 Whey acidic protein, 4-disulphide core (1); . . . . T 0.04407 0.0121 . . . 0.09310 N 1 B;B 0.21606 0.058;0.055 B;B 0.16289 0.015;0.015 T 0.28933 -1.0028 8 0.35671 T 0.21 . 2.0867 0.03647 0.1405:0.1713:0.4283:0.2599 . 86;70 Q8IUB3-2;Q8IUB3 .;WF10B_HUMAN V 70;86 ENSP00000327628:M70V;ENSP00000337466:M86V ENSP00000327628:M70V M - 1 0 WFDC10B 43746897 0.000000 0.05858 0.001000 0.08648 0.003000 0.03518 -0.845000 0.04340 -1.033000 0.03299 -0.648000 0.03929 ATG NOVEL WFDC10B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252547.1 1 8.424573 KEEP 0 0 0 28 867 TT 0.999997 0.999997 0 - 11 60 407 0 0 24.295113 373 60 13386 494 ENST00000330523.5 0.028646 1 WFDC13 164237 __UNKNOWN__ __UNKNOWN__ 20 44334588 44334588 __UNKNOWN__ Intron SNP C C G rs232290 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44334588C>G ENST00000305479.2 + 3 412 NM_172005.1 NP_742002.1 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 NA NA extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) GATTTGGTCTCGCCTTCCTCA 0.468 NA G||| 3479 0.694688 0.9024 0.4986 5008 , , NA 19946 0.7966 NA 0.4523 False NA ,,, NA NA NA 2504 0.6973 NA NA NA NA 0 G 3565,841 330.7+/-301.6 1454,657,92 80 73 76 0.6 0 20 dbSNP_79 76 3832,4768 610.9+/-395.7 876,2080,1344 no intron WFDC13 NM_172005.1 2330,2737,1436 GG,GC,CC 44.5581,19.0876,43.1262 44334588 7397,5609 2203 4300 6503 SO:0001627 intron_variant AF454505 CCDS13367.1 20q13.11 2013-01-21 2003-02-21 2003-02-21 ENSG00000168634 ENSG00000168634 164237 WAP four-disulfide core domain containing 16131 protein-coding gene gene with protein product chromosome 20 open reading frame 138 C20orf138 NA 12206714 Standard NM_172005 NA Approved dJ601O1.3, WAP13 uc002xpd.3 Q8IUB5 OTTHUMG00000046333 ENST00000305479.2:c.279+22C>G chr20.hg19:g.44334588C>G NA Q5TEU7|Q8WWK7 hg19 CCDS13367.1 0.02 34.681379 TCTxGCC COVERED NOVEL WFDC13-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106946.1 3 4.615583 KEEP 0 3 93 48 1596 CC 1 1 0 + 26 60 973 0 0 60.423074 741 60 26591 1005 ENST00000305479.2 0.033898 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 44350931 44350931 __UNKNOWN__ IGR SNP C C G rs232262 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44350931C>G NA NA WFDC13 (13475 upstream) : SPINT4 (58 downstream) NA NA NA TAGGTGAGCTCAACCGTCTCA 0.507 NA C||| 3244 0.647764 0.8306 0.3804 5008 , , NA 18494 0.7748 NA 0.4314 False NA ,,, NA NA NA 2504 0.682 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.44350931C>G NA hg19 0.02 17.849548 GCTxAAC COVERED NOVEL 0 0 6.456561 KEEP 0 1 36 34 1171 CC 0.999999 0.999999 0 13 60 471 0 0 28.14383 415 60 15460 542 0.030374 1 SPINT4 391253 __UNKNOWN__ __UNKNOWN__ 20 44354372 44354372 __UNKNOWN__ 3'UTR SNP G G A rs6032474 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44354372G>A ENST00000279058.3 + 0 415 NM_178455.1 NP_848550.1 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 NA NA extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) TTTCCATAATGCTTTAAGCTT 0.353 NA A||| 2602 0.519569 0.7231 0.3199 5008 , , NA 20252 0.4742 NA 0.3867 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 A 897,487 289,319,84 96 84 88 -1.2 0 20 dbSNP_114 88 1166,2016 247,672,672 yes near-gene-3 536,991,756 AA,AG,GG 36.6436,35.1879,45.1818 44354372 2063,2503 692 1591 2283 SO:0001624 3_prime_UTR_variant AY372174 CCDS33477.1 20q13.12 2012-08-20 2005-10-18 2005-10-25 ENSG00000149651 ENSG00000149651 391253 16130 protein-coding gene gene with protein product chromosome 20 open reading frame 137, serine peptidase inhibitor, Kunitz type 4 C20orf137 NA 21988899 Standard XM_372869 NM_178455 NA Approved dJ601O1.1 uc002xpe.1 Q6UDR6 OTTHUMG00000130153 ENST00000279058.3:c.*98G>A chr20.hg19:g.44354372G>A NA Q9BQN3 hg19 CCDS33477.1 0.02 7.986454 AATxCTT COVERED NOVEL SPINT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252463.2 2 7.223075 KEEP 0 0 0 24 841 GG 0.999909 0.999909 0 + 9 60 328 0 0 20.320525 238 60 8935 304 ENST00000279058.3 0.036437 1 SPINT4 391253 __UNKNOWN__ __UNKNOWN__ 20 44354387 44354387 __UNKNOWN__ 3'UTR SNP A A C rs232259 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44354387A>C ENST00000279058.3 + 0 430 NM_178455.1 NP_848550.1 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 NA NA extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) AAGCTTCCATATGTTTGCTAT 0.348 NA C||| 3475 0.69389 0.9523 0.4885 5008 , , NA 20862 0.7798 NA 0.4175 False NA ,,, NA NA NA 2504 0.6861 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY372174 CCDS33477.1 20q13.12 2012-08-20 2005-10-18 2005-10-25 ENSG00000149651 ENSG00000149651 391253 16130 protein-coding gene gene with protein product chromosome 20 open reading frame 137, serine peptidase inhibitor, Kunitz type 4 C20orf137 NA 21988899 Standard XM_372869 NM_178455 NA Approved dJ601O1.1 uc002xpe.1 Q6UDR6 OTTHUMG00000130153 ENST00000279058.3:c.*113A>C chr20.hg19:g.44354387A>C NA Q9BQN3 hg19 CCDS33477.1 0.02 11.648411 CATxTGT COVERED NOVEL SPINT4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000252463.2 3 6.919415 KEEP 0 0 0 23 701 AA 0.999892 0.999892 0 + 18 60 684 0 0 48.547965 243 60 8814 336 ENST00000279058.3 0.068966 1 TNNC2 7125 __UNKNOWN__ __UNKNOWN__ 20 44452771 44452771 __UNKNOWN__ Intron SNP A A G rs59673641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44452771A>G ENST00000372555.3 - 5 407 TNNC2_ENST00000372557.1_Intron NM_003279.2 NP_003270.1 P02585 TNNC2_HUMAN troponin C type 2 (fast) NA NA muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009) cytosol (GO:0005829)|troponin complex (GO:0005861) calcium ion binding (GO:0005509) endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.0122) Felodipine(DB01023) GCATTCCTTCAGGTCCGAGGG 0.652 NA A||| 488 0.0974441 0.1989 0.0389 5008 , , NA 16707 0.1042 NA 0.006 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 A 748,3658 304.4+/-288.4 60,628,1515 96 96 96 -4.4 0 20 dbSNP_129 96 73,8527 43.1+/-100.9 3,67,4230 no intron TNNC2 NM_003279.2 63,695,5745 GG,GA,AA 0.8488,16.9768,6.3125 44452771 821,12185 2203 4300 6503 SO:0001627 intron_variant CCDS13375.1 20q12-q13.11 2013-01-10 2005-09-12 ENSG00000101470 ENSG00000101470 7125 EF-hand domain containing 11944 protein-coding gene gene with protein product 191039 troponin C2, fast NA 2373703 Standard NM_003279 NM_003279 NA Approved uc002xpr.3 P02585 OTTHUMG00000032623 ENST00000372555.3:c.315-5T>C chr20.hg19:g.44452771A>G NA Q6FH92 hg19 CCDS13375.1 0.02 8.954463 TTCxGGT COVERED NOVEL TNNC2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079524.3 5 32.792142 KEEP 0 0 0 109 3285 AA 1 1 0 - 10 60 362 0 0 22.947922 229 60 8483 411 ENST00000372555.3 0.041841 1 ZSWIM3 140831 __UNKNOWN__ __UNKNOWN__ 20 44506430 44506430 __UNKNOWN__ Silent SNP G G A rs200697227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44506430G>A ENST00000255152.2 + 2 1442 c.1233G>A c.(1231-1233)tcG>tcA p.S411S ZSWIM3_ENST00000454862.2_Silent_p.S405S NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 411 NA zinc ion binding (GO:0008270) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) AACAGCAGTCGCTGCTGGACT 0.488 NA g||| 5 0.000998403 0.0 0.0 5008 , , NA 22321 0.004 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 83 68 73 NA NA 20 NA 44506430 2203 4300 6503 SO:0001819 synonymous_variant AL008726 CCDS13381.1 20q13.12 2014-06-13 2003-12-17 2003-12-19 ENSG00000132801 ENSG00000132801 140831 Zinc fingers, SWIM-type 16157 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 174 chromosome 20 open reading frame 164 C20orf164 NA Standard NM_080752 NM_080752 NA Approved dJ337O18.7, PPP1R174 uc002xqd.3 Q96MP5 OTTHUMG00000032627 ENST00000255152.2:c.1233G>A chr20.hg19:g.44506430G>A NA Q9BR13 hg19 CCDS13381.1 0.02 5.859551 GTCxCTG COVERED NOVEL ZSWIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079540.1 1 13.776643 KEEP 0 1 26 55 1888 GG 1 1 0 + 8 60 276 0 0 17.15431 175 60 6142 271 ENST00000255152.2 0.043716 1 PLTP 5360 __UNKNOWN__ __UNKNOWN__ 20 44540564 44540564 __UNKNOWN__ 5'UTR SNP C C G rs2294212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44540564C>G ENST00000477313.1 - 0 122 PLTP_ENST00000372431.3_Intron|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000542937.1_5'UTR|PLTP_ENST00000420868.2_Intron P55058 PLTP_HUMAN phospholipid transfer protein NA NA lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189) extracellular region (GO:0005576)|extracellular space (GO:0005615) lipid binding (GO:0008289) endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) GGTCTCCCGGCTCCCTCAGGT 0.642 NA C||| 734 0.146565 0.087 0.0605 5008 , , NA 14306 0.3165 NA 0.0944 False NA ,,, NA NA NA 2504 0.1667 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant L26232 CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1 20q13.12 2011-08-16 ENSG00000100979 ENSG00000100979 5360 BPI fold containing 9093 protein-coding gene gene with protein product BPI fold containing family E 172425 NA Standard NM_006227 NM_006227 NA Approved BPIFE uc002xqn.2 P55058 OTTHUMG00000033047 ENST00000477313.1:c.-473G>C chr20.hg19:g.44540564C>G NA A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8 hg19 CCDS13386.1 0.02 11.322599 CGGxTCC COVERED NOVEL PLTP-005 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354633.1 5 63.747977 KEEP 0 0 0 212 7506 CC 1 1 0 - 8 60 300 0 0 17.972172 279 60 10332 622 ENST00000477313.1 0.027875 1 ZNF335 63925 __UNKNOWN__ __UNKNOWN__ 20 44577314 44577314 __UNKNOWN__ 3'UTR SNP C C T rs3363 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44577314C>T ENST00000322927.2 - 0 4407 ZNF335_ENST00000426788.1_3'UTR NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 NA NA brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GACTGGACTCCGGTCCCTTTA 0.567 NA C||| 1116 0.222843 0.3313 0.1009 5008 , , NA 21171 0.3135 NA 0.1004 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK026157 CCDS13389.1 20q13.12 2011-09-12 ENSG00000198026 ENSG00000198026 63925 Zinc fingers, C2H2-type 15807 protein-coding gene gene with protein product NRC-interacting factor 1 610827 NA 12215545, 19131338 Standard NM_022095 NM_022095 NA Approved bA465L10.2, NIF-1 uc002xqw.3 Q9H4Z2 OTTHUMG00000032637 ENST00000322927.2:c.*278G>A chr20.hg19:g.44577314C>T NA B4DLG7|Q548D0|Q9H684 hg19 CCDS13389.1 0.02 4.082685 CTCxGGT COVERED NOVEL ZNF335-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079553.1 0 21.668852 KEEP 0 0 0 72 2455 CC 1 1 0 - 7 60 253 0 0 16.668621 129 60 4641 277 ENST00000322927.2 0.051471 1 ZNF335 63925 __UNKNOWN__ __UNKNOWN__ 20 44587830 44587830 __UNKNOWN__ Intron SNP C C A rs6130977 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44587830C>A ENST00000322927.2 - 15 2354 ZNF335_ENST00000426788.1_Intron NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 NA NA brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GACCCATGCCCCGACCTTACC 0.577 NA C||| 244 0.048722 0.0825 0.013 5008 , , NA 18725 0.0952 NA 0.0129 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 C 355,4047 13,329,1859 40 44 42 4.1 0 20 dbSNP_114 42 89,8509 2,85,4212 no intron ZNF335 NM_022095.3 15,414,6071 AA,AC,CC 1.0351,8.0645,3.4154 44587830 444,12556 2201 4299 6500 SO:0001627 intron_variant AK026157 CCDS13389.1 20q13.12 2011-09-12 ENSG00000198026 ENSG00000198026 63925 Zinc fingers, C2H2-type 15807 protein-coding gene gene with protein product NRC-interacting factor 1 610827 NA 12215545, 19131338 Standard NM_022095 NM_022095 NA Approved bA465L10.2, NIF-1 uc002xqw.3 Q9H4Z2 OTTHUMG00000032637 ENST00000322927.2:c.2253+9G>T chr20.hg19:g.44587830C>A NA B4DLG7|Q548D0|Q9H684 hg19 CCDS13389.1 0.02 6.120526 GCCxCGA COVERED NOVEL ZNF335-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079553.1 0 15.349306 KEEP 0 0 0 51 1793 CC 1 1 0 - 7 60 252 0 0 15.800704 167 60 5975 279 ENST00000322927.2 0.04023 1 ZNF335 63925 __UNKNOWN__ __UNKNOWN__ 20 44590732 44590732 __UNKNOWN__ Silent SNP G G A rs16990964 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44590732G>A ENST00000322927.2 - 10 1723 c.1623C>T c.(1621-1623)caC>caT p.H541H ZNF335_ENST00000426788.1_Silent_p.H386H NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 541 NA brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GCACAGCGGCGTGCCGAATGA 0.632 NA G||| 244 0.048722 0.0825 0.013 5008 , , NA 16329 0.0952 NA 0.0129 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 G 373,4033 190.5+/-216.4 17,339,1847 152 120 131 1623 -4.5 0.4 20 dbSNP_123 131 91,8509 51.9+/-112.3 1,89,4210 no coding-synonymous ZNF335 NM_022095.3 18,428,6057 AA,AG,GG 1.0581,8.4657,3.5676 541/1343 44590732 464,12542 2203 4300 6503 SO:0001819 synonymous_variant AK026157 CCDS13389.1 20q13.12 2011-09-12 ENSG00000198026 ENSG00000198026 63925 Zinc fingers, C2H2-type 15807 protein-coding gene gene with protein product NRC-interacting factor 1 610827 NA 12215545, 19131338 Standard NM_022095 NM_022095 NA Approved bA465L10.2, NIF-1 uc002xqw.3 Q9H4Z2 OTTHUMG00000032637 ENST00000322927.2:c.1623C>T chr20.hg19:g.44590732G>A NA B4DLG7|Q548D0|Q9H684 hg19 CCDS13389.1 0.02 8.274976 GGCxTGC COVERED NOVEL ZNF335-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079553.1 0 23.174569 KEEP 0 0 0 77 2687 GG 1 1 0 - 10 60 356 0 0 22.393266 227 60 7414 377 ENST00000322927.2 0.042194 1 ZNF335 63925 __UNKNOWN__ __UNKNOWN__ 20 44592364 44592364 __UNKNOWN__ Intron SNP C C T rs3746511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44592364C>T ENST00000322927.2 - 8 1456 ZNF335_ENST00000426788.1_Intron NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 NA NA brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) ACCCTCACCTCTGCTCCACAT 0.597 NA C||| 781 0.15595 0.087 0.072 5008 , , NA 20600 0.3274 NA 0.0934 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 C 267,4139 149.9+/-184.0 6,255,1942 242 222 229 1.3 0 20 dbSNP_107 229 928,7672 205.5+/-247.9 47,834,3419 no intron ZNF335 NM_022095.3 53,1089,5361 TT,TC,CC 10.7907,6.0599,9.1881 44592364 1195,11811 2203 4300 6503 SO:0001627 intron_variant AK026157 CCDS13389.1 20q13.12 2011-09-12 ENSG00000198026 ENSG00000198026 63925 Zinc fingers, C2H2-type 15807 protein-coding gene gene with protein product NRC-interacting factor 1 610827 NA 12215545, 19131338 Standard NM_022095 NM_022095 NA Approved bA465L10.2, NIF-1 uc002xqw.3 Q9H4Z2 OTTHUMG00000032637 ENST00000322927.2:c.1355+12G>A chr20.hg19:g.44592364C>T NA B4DLG7|Q548D0|Q9H684 hg19 CCDS13389.1 0.02 12.779274 CCTxTGC COVERED NOVEL ZNF335-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079553.1 2 20.766346 KEEP 0 0 0 69 2441 CC 1 1 0 - 10 60 366 0 0 22.311325 292 60 11025 444 ENST00000322927.2 0.033113 1 MMP9 4318 __UNKNOWN__ __UNKNOWN__ 20 44643111 44643111 __UNKNOWN__ Missense_Mutation SNP G G A rs17577 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44643111G>A ENST00000372330.3 + 12 2022 c.2003G>A c.(2002-2004)cGa>cAa p.R668Q RP11-465L10.10_ENST00000535913.1_RNA NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 668 NA R -> Q (in dbSNP:rs17577). {ECO:0000269|Ref.4, ECO:0000269|Ref.5}. collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017) TTCCAGTACCGAGGTGAGGGC 0.582 NA OREG0025990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 956 0.190895 0.1634 0.0836 5008 , , NA 16389 0.1637 NA 0.175 False NA ,,, NA NA NA 2504 0.3487 NA NA NA NA 0 GRCh37 CM061854 MMP9 M rs17577 G GLN/ARG 614,3240 49,516,1362 24 20 21 2003 -9.3 0.3 20 dbSNP_63 21 860,6502 48,764,2869 yes missense MMP9 NM_004994.2 43 97,1280,4231 AA,AG,GG 11.6816,15.9315,13.1419 benign 668/708 44643111 1474,9742 1927 3681 5608 SO:0001583 missense CCDS13390.1 20q12-q13 2008-01-07 2005-08-08 ENSG00000100985 ENSG00000100985 4318 3.4.24.35 7176 protein-coding gene gene with protein product 120361 matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase), matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) CLG4B NA 2158484 Standard NM_004994 NA Approved uc002xqz.3 P14780 OTTHUMG00000033044 ENST00000372330.3:c.2003G>A chr20.hg19:g.44643111G>A ENSP00000361405:p.Arg668Gln 925 B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2 hg19 CCDS13390.1 0.02 6.505001 ACCxAGG COVERED 357 0.16346153846153846 85 0.17276422764227642 37 0.10220994475138122 101 0.17657342657342656 134 0.17678100263852242 G 6.232 0.410858 0.11812 0.159315 0.116816 ENSG00000100985 ENST00000372330;ENST00000545925 T 0.02812 4.15 5.11 -9.33 0.00639 Hemopexin/matrixin (2); 0.852608 0.10295 N 0.691883 T 0.00012 0.0000 N 0.01874 -0.695 0.80722 P 0.0 B 0.14438 0.01 B 0.04013 0.001 T 0.43376 -0.9395 9 0.07030 T 0.85 . 17.5333 0.87820 0.8078:0.0:0.1922:0.0 rs17577;rs2274756;rs3197194;rs11556879;rs17376226;rs17402681;rs52794457;rs58178187;rs2274756 668 P14780 MMP9_HUMAN Q 668;238 ENSP00000361405:R668Q ENSP00000361405:R668Q R + 2 0 MMP9 44076518 0.953000 0.32496 0.251000 0.24312 0.684000 0.39900 0.147000 0.16202 -2.524000 0.00495 -2.010000 0.00438 CGA NOVEL MMP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080337.1 2 18.959745 KEEP 0 0 0 63 2138 GG 1 1 0 + 8 60 304 0 0 19.83428 181 60 6682 333 ENST00000372330.3 0.042328 1 MMP9 4318 __UNKNOWN__ __UNKNOWN__ 20 44644965 44644965 __UNKNOWN__ Silent SNP G G A rs13925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44644965G>A ENST00000372330.3 + 13 2101 c.2082G>A c.(2080-2082)gtG>gtA p.V694V RP11-465L10.10_ENST00000535913.1_RNA NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 694 NA collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017) TGGACCAAGTGGGCTACGTGA 0.582 NA G||| 827 0.165136 0.1392 0.0778 5008 , , NA 18416 0.1637 NA 0.175 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 G 658,3748 282.5+/-276.6 49,560,1594 143 108 120 2082 3 1 20 dbSNP_52 120 1187,7413 242.1+/-272.2 81,1025,3194 no coding-synonymous MMP9 NM_004994.2 130,1585,4788 AA,AG,GG 13.8023,14.9342,14.1858 694/708 44644965 1845,11161 2203 4300 6503 SO:0001819 synonymous_variant CCDS13390.1 20q12-q13 2008-01-07 2005-08-08 ENSG00000100985 ENSG00000100985 4318 3.4.24.35 7176 protein-coding gene gene with protein product 120361 matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase), matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) CLG4B NA 2158484 Standard NM_004994 NA Approved uc002xqz.3 P14780 OTTHUMG00000033044 ENST00000372330.3:c.2082G>A chr20.hg19:g.44644965G>A NA B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2 hg19 CCDS13390.1 0.02 13.109151 AGTxGGC COVERED NOVEL MMP9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080337.1 0 16.552013 KEEP 0 0 0 55 1882 GG 1 1 0 + 9 60 337 0 0 20.331535 300 60 11090 451 ENST00000372330.3 0.029126 1 SLC12A5 57468 __UNKNOWN__ __UNKNOWN__ 20 44686091 44686091 __UNKNOWN__ Intron SNP G G T rs116878061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44686091G>T ENST00000243964.3 + 26 3357 SLC12A5_ENST00000454036.2_Intron NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 NA NA cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810) dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901) NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGGCAGCCGAGCGCGACCCCA 0.632 NA G||| 111 0.0221645 0.0008 0.0 5008 , , NA 14452 0.0734 NA 0.0209 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB033002 CCDS13391.1, CCDS46610.1 20q13.12 2013-05-22 2010-04-20 ENSG00000124140 ENSG00000124140 57468 Solute carriers 13818 protein-coding gene gene with protein product 606726 NA Standard NM_020708 NA Approved KIAA1176, KCC2 uc010zxl.1 Q9H2X9 OTTHUMG00000032638 ENST00000243964.3:c.3260-62G>T chr20.hg19:g.44686091G>T NA A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4 hg19 CCDS13391.1 0.02 12.717329 CGAxCGC COVERED NOVEL SLC12A5-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079558.2 2 15.349692 KEEP 0 0 0 51 1831 GG 1 1 0 + 12 60 400 0 0 23.363801 320 60 11907 464 ENST00000243964.3 0.036145 1 NCOA5 57727 __UNKNOWN__ __UNKNOWN__ 20 44691350 44691350 __UNKNOWN__ Silent SNP T T G rs1537028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44691350T>G ENST00000290231.6 - 8 1493 c.1329A>C c.(1327-1329)acA>acC p.T443T NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 443 NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGGCCGTCACTGTGCCACTAT 0.567 NA T||| 1996 0.398562 0.289 0.4856 5008 , , NA 16946 0.5675 NA 0.3479 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 T 1125,3281 401.3+/-331.9 147,831,1225 114 119 118 1329 -7.1 0.3 20 dbSNP_88 118 2790,5810 441.8+/-359.9 456,1878,1966 no coding-synonymous NCOA5 NM_020967.2 603,2709,3191 GG,GT,TT 32.4419,25.5334,30.1015 443/580 44691350 3915,9091 2203 4300 6503 SO:0001819 synonymous_variant CCDS13392.1 20q12-q13.12 2008-07-02 ENSG00000124160 ENSG00000124160 57727 15909 protein-coding gene gene with protein product coactivator independent of AF-2 NA 11780052, 11113208 Standard NM_020967 XM_005260474 NA Approved bA465L10.6, CIA uc002xre.3 Q9HCD5 OTTHUMG00000032639 ENST00000290231.6:c.1329A>C chr20.hg19:g.44691350T>G NA B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9 hg19 CCDS13392.1 0.02 13.654525 CACxGTG COVERED NOVEL NCOA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079559.1 0 21.665823 KEEP 0 0 0 72 2287 TT 1 1 0 - 16 60 570 0 0 37.151859 300 60 11166 468 ENST00000290231.6 0.050633 1 SLC35C2 51006 __UNKNOWN__ __UNKNOWN__ 20 44978323 44978323 __UNKNOWN__ 3'UTR SNP G G A rs80231350 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:44978323G>A ENST00000372227.1 - 0 2348 SLC35C2_ENST00000317734.8_3'UTR|SLC35C2_ENST00000372230.5_3'UTR|SLC35C2_ENST00000372229.1_3'UTR|SLC35C2_ENST00000243896.2_3'UTR|SLC35C2_ENST00000493599.1_5'UTR NM_001281458.1|NM_001281460.1 NP_001268387.1|NP_001268389.1 Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 NA NA negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810) cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) tagtgacaaagccagtattca 0.438 NA G||| 32 0.00638978 0.0 0.0 5008 , , NA 18568 0.0278 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13396.1, CCDS13397.1, CCDS63292.1 20q13.12 2013-07-17 2013-07-17 2003-10-10 ENSG00000080189 ENSG00000080189 51006 Solute carriers 17117 protein-coding gene gene with protein product ovarian cancer overexpressed 1, solute carrier family 35, member C2 C20orf5, OVCOV1 NA 10810093, 11549316 Standard NM_015945 NM_173179 NA Approved CGI-15, bA394O2.1 uc002xrq.3 Q9NQQ7 OTTHUMG00000033050 ENST00000372227.1:c.*710C>T chr20.hg19:g.44978323G>A NA B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304 hg19 CCDS13396.1 0.02 3.839942 AAAxCCA COVERED NOVEL SLC35C2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080363.1 0 9.932656 KEEP 0 0 0 33 1199 GG 0.999998 0.999998 0 - 12 60 436 0 0 31.508763 129 60 4828 210 ENST00000372227.1 0.085106 1 SLC2A10 81031 __UNKNOWN__ __UNKNOWN__ 20 45354483 45354483 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:45354483G>A ENST00000359271.2 + 2 1058 c.808G>A c.(808-810)Gtg>Atg p.V270M NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 270 NA glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) sugar:proton symporter activity (GO:0005351) p.V270M(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) ATCCTCAGCCGTGCTGGCCTC 0.642 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - Missense(1) central_nervous_system(1) 108 100 103 NA NA 20 NA 45354483 2203 4300 6503 SO:0001583 missense AL137188 CCDS13402.1 20q13.12 2013-05-22 ENSG00000197496 ENSG00000197496 81031 Solute carriers 13444 protein-coding gene gene with protein product 606145 NA 11247674 Standard NM_030777 NA Approved GLUT10 uc002xsl.3 O95528 OTTHUMG00000032657 ENST00000359271.2:c.808G>A chr20.hg19:g.45354483G>A ENSP00000352216:p.Val270Met NA A8K4J6|Q3MIX5|Q9H4I6 hg19 CCDS13402.1 0.02 6.432845 GCCxTGC COVERED . . . . . . . . . . G 3.568 -0.088247 0.07097 . . ENSG00000197496 ENST00000359271 T 0.81078 -1.45 5.86 1.23 0.21249 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.493212 0.22853 N 0.054832 T 0.57902 0.2085 N 0.11724 0.165 0.09310 N 0.999999 P 0.41848 0.763 B 0.34138 0.176 T 0.52734 -0.8536 10 0.14656 T 0.56 0.0094 12.0251 0.53365 0.3684:0.0:0.6316:0.0 . 270 O95528 GTR10_HUMAN M 270 ENSP00000352216:V270M ENSP00000352216:V270M V + 1 0 SLC2A10 44787890 0.461000 0.25783 0.357000 0.25798 0.004000 0.04260 0.842000 0.27627 0.110000 0.17919 -0.797000 0.03246 GTG NOVEL SLC2A10-001 KNOWN mRNA_end_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079578.2 2 4.347577 KEEP 0 1 27 24 821 GG 0.999931 0.999931 0 + 6 60 225 0 0 13.858053 180 60 6256 239 ENST00000359271.2 0.032258 1 NCOA3 8202 __UNKNOWN__ __UNKNOWN__ 20 46283383 46283383 __UNKNOWN__ 3'UTR SNP A A G rs11699879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:46283383A>G ENST00000372004.3 + 0 5701 NCOA3_ENST00000371997.3_3'UTR|NCOA3_ENST00000341724.6_3'UTR NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 NA NA androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068) cytoplasm (GO:0005737)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CTCTTAATCTAAATGCTTTTT 0.408 NA A||| 1097 0.21905 0.1165 0.2161 5008 , , NA 15082 0.2073 NA 0.2952 False NA ,,, NA NA NA 2504 0.2935 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF012108 CCDS13406.1, CCDS13407.1, CCDS54472.1 20q12 2011-07-01 ENSG00000124151 ENSG00000124151 8202 Chromatin-modifying enzymes / K-acetyltransferases, Basic helix-loop-helix proteins 7670 protein-coding gene gene with protein product receptor-associated coactivator 3, thyroid hormone receptor activator molecule 1 601937 NA 9252329, 9346901 Standard NM_006534 NM_181659 NA Approved RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3 uc002xtk.3 Q9Y6Q9 OTTHUMG00000033061 ENST00000372004.3:c.*1222A>G chr20.hg19:g.46283383A>G NA A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7 hg19 CCDS13406.1 0.02 4.414012 TCTxAAT COVERED NOVEL NCOA3-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000080403.3 1 2.342706 KEEP 0 1 38 21 653 AA 0.999879 0.999878 0 + 6 60 222 0 0 14.699515 115 60 4037 153 ENST00000372004.3 0.049587 0.999999 STAU1 6780 __UNKNOWN__ __UNKNOWN__ 20 47731158 47731158 __UNKNOWN__ 3'UTR SNP T T C rs1043361 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:47731158T>C ENST00000371856.2 - 0 2401 STAU1_ENST00000371792.1_3'UTR|STAU1_ENST00000340954.7_3'UTR|STAU1_ENST00000371802.1_3'UTR|STAU1_ENST00000371828.3_3'UTR|STAU1_ENST00000360426.4_3'UTR|STAU1_ENST00000347458.5_3'UTR NM_017453.2 NP_059347.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 NA NA intracellular mRNA localization (GO:0008298) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGGGCAGCCCTTCTTCCCCAC 0.612 NA T||| 1504 0.300319 0.1082 0.3444 5008 , , NA 15675 0.3294 NA 0.4225 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13414.1, CCDS13415.1, CCDS33481.1 20q13.1 2014-06-13 2013-06-05 2005-11-04 ENSG00000124214 ENSG00000124214 6780 11370 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 150 601716 staufen (Drosophila, RNA-binding protein), staufen, RNA binding protein (Drosophila), staufen, RNA binding protein, homolog 1 (Drosophila) STAU NA 8884277, 15680326 Standard NM_017453 XM_005260524 NA Approved PPP1R150 uc002xud.3 O95793 OTTHUMG00000032691 ENST00000371856.2:c.*257A>G chr20.hg19:g.47731158T>C NA A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2 hg19 CCDS13414.1 0.02 19.841904 CCCxTCT COVERED NOVEL STAU1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079633.1 3 30.356676 KEEP 0 2 66 124 3850 TT 1 1 0 - 25 60 911 0 0 62.089611 392 60 14421 650 ENST00000371856.2 0.059952 1 STAU1 6780 __UNKNOWN__ __UNKNOWN__ 20 47731228 47731228 __UNKNOWN__ 3'UTR SNP A A C rs1043357 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:47731228A>C ENST00000371856.2 - 0 2331 STAU1_ENST00000371792.1_3'UTR|STAU1_ENST00000340954.7_3'UTR|STAU1_ENST00000371802.1_3'UTR|STAU1_ENST00000371828.3_3'UTR|STAU1_ENST00000360426.4_3'UTR|STAU1_ENST00000347458.5_3'UTR NM_017453.2 NP_059347.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 NA NA intracellular mRNA localization (GO:0008298) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) AACAAACCCCAGCACAGTCCA 0.632 NA A||| 1422 0.283946 0.0552 0.3357 5008 , , NA 14622 0.3294 NA 0.4225 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13414.1, CCDS13415.1, CCDS33481.1 20q13.1 2014-06-13 2013-06-05 2005-11-04 ENSG00000124214 ENSG00000124214 6780 11370 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 150 601716 staufen (Drosophila, RNA-binding protein), staufen, RNA binding protein (Drosophila), staufen, RNA binding protein, homolog 1 (Drosophila) STAU NA 8884277, 15680326 Standard NM_017453 XM_005260524 NA Approved PPP1R150 uc002xud.3 O95793 OTTHUMG00000032691 ENST00000371856.2:c.*187T>G chr20.hg19:g.47731228A>C NA A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2 hg19 CCDS13414.1 0.02 23.910362 CCCxGCA COVERED NOVEL STAU1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079633.1 4 38.154851 KEEP 0 4 141 176 5534 AA 1 1 0 - 28 60 993 0 0 63.80465 560 60 20519 984 ENST00000371856.2 0.047619 1 STAU1 6780 __UNKNOWN__ __UNKNOWN__ 20 47739814 47739814 __UNKNOWN__ Intron SNP C C T rs2295714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:47739814C>T ENST00000371856.2 - 8 1233 STAU1_ENST00000371792.1_Intron|STAU1_ENST00000340954.7_Intron|STAU1_ENST00000371802.1_Intron|STAU1_ENST00000371828.3_Intron|STAU1_ENST00000360426.4_Intron|STAU1_ENST00000347458.5_Intron NM_017453.2 NP_059347.2 O95793 STAU1_HUMAN staufen double-stranded RNA binding protein 1 NA NA intracellular mRNA localization (GO:0008298) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791) double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) TGTTATTCACCGCATGAACTT 0.423 NA T||| 1855 0.370407 0.354 0.3761 5008 , , NA 16511 0.3294 NA 0.4274 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 T ,,,, 1716,2690 650.6+/-399.1 344,1028,831 61 57 59 ,,,, -1 0 20 dbSNP_100 59 3454,5146 636.0+/-399.1 695,2064,1541 no intron,intron,intron,intron,intron STAU1 NM_001037328.1,NM_004602.2,NM_017452.2,NM_017453.2,NM_017454.2 ,,,, 1039,3092,2372 TT,TC,CC 40.1628,38.9469,39.7509 ,,,, ,,,, 47739814 5170,7836 2203 4300 6503 SO:0001627 intron_variant CCDS13414.1, CCDS13415.1, CCDS33481.1 20q13.1 2014-06-13 2013-06-05 2005-11-04 ENSG00000124214 ENSG00000124214 6780 11370 protein-coding gene gene with protein product protein phosphatase 1, regulatory subunit 150 601716 staufen (Drosophila, RNA-binding protein), staufen, RNA binding protein (Drosophila), staufen, RNA binding protein, homolog 1 (Drosophila) STAU NA 8884277, 15680326 Standard NM_017453 XM_005260524 NA Approved PPP1R150 uc002xud.3 O95793 OTTHUMG00000032691 ENST00000371856.2:c.823-42G>A chr20.hg19:g.47739814C>T NA A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2 hg19 CCDS13414.1 0.02 3.965417 CACxGCA COVERED NOVEL STAU1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079633.1 0 10.833971 KEEP 0 0 0 36 1222 CC 0.999999 0.999999 0 - 5 60 179 0 0 10.955356 133 60 4645 214 ENST00000371856.2 0.036232 1 DDX27 55661 __UNKNOWN__ __UNKNOWN__ 20 47843146 47843146 __UNKNOWN__ Intron SNP A A T rs6067024 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:47843146A>T ENST00000371764.4 + 7 808 DDX27_ENST00000484427.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 NA NA nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GACTTACCAAAGGCTGGTTTG 0.458 NA A||| 1398 0.279153 0.0832 0.3285 5008 , , NA 18240 0.3204 NA 0.4076 False NA ,,, NA NA NA 2504 0.3344 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL049766 CCDS13416.1 20q13.13 2010-07-06 2003-06-13 ENSG00000124228 ENSG00000124228 55661 DEAD-boxes 15837 protein-coding gene gene with protein product DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27 NA Standard NM_017895 NA Approved dJ686N3.1, DRS1 uc002xuh.3 Q96GQ7 OTTHUMG00000033072 ENST00000371764.4:c.799+74A>T chr20.hg19:g.47843146A>T NA A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6 hg19 CCDS13416.1 0.02 4.531363 CAAxGGC COVERED NOVEL DDX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080485.1 2 3.945701 KEEP 0 1 31 24 746 AA 0.999931 0.999929 0 + 9 60 339 0 0 24.382326 109 60 4062 166 ENST00000371764.4 0.076271 0.999998 DDX27 55661 __UNKNOWN__ __UNKNOWN__ 20 47859217 47859217 __UNKNOWN__ Splice_Site SNP G G A rs1130146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:47859217G>A ENST00000371764.4 + 19 2305 c.2296G>A c.(2296-2298)Ggc>Agc p.G766S DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 766 NA G -> S (in dbSNP:rs1130146). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. nucleus (GO:0005634) ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTATCGAGCTGGGTAGGATTT 0.443 NA G||| 1365 0.272564 0.0567 0.3271 5008 , , NA 18301 0.3234 NA 0.4085 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 G SER/GLY 468,3938 220.7+/-238.1 26,416,1761 114 118 116 2296 4.9 1 20 dbSNP_86 116 3283,5317 491.9+/-373.2 631,2021,1648 yes missense-near-splice DDX27 NM_017895.7 56 657,2437,3409 AA,AG,GG 38.1744,10.6219,28.8405 possibly-damaging 766/797 47859217 3751,9255 2203 4300 6503 SO:0001630 splice_region_variant AL049766 CCDS13416.1 20q13.13 2010-07-06 2003-06-13 ENSG00000124228 ENSG00000124228 55661 DEAD-boxes 15837 protein-coding gene gene with protein product DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27 NA Standard NM_017895 NA Approved dJ686N3.1, DRS1 uc002xuh.3 Q96GQ7 OTTHUMG00000033072 ENST00000371764.4:c.2297+1G>A chr20.hg19:g.47859217G>A NA A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6 hg19 CCDS13416.1 0.02 12.865021 GCTxGGT COVERED 634 0.2902930402930403 32 0.06504065040650407 124 0.3425414364640884 165 0.28846153846153844 313 0.4129287598944591 G 27.8 4.860053 0.91433 0.106219 0.381744 ENSG00000124228 ENST00000371764 T 0.01438 4.89 5.91 4.95 0.65309 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 L 0.34521 1.04 0.09310 P 1.0 D 0.58620 0.983 P 0.54312 0.748 T 0.63954 -0.6520 9 0.23891 T 0.37 -21.6264 14.2585 0.66067 0.0:0.0:0.8498:0.1502 rs1130146;rs3188714;rs6063377;rs8116791;rs11553386;rs17416057;rs17722253;rs52796221;rs58594349;rs6063377 766 Q96GQ7 DDX27_HUMAN S 766 ENSP00000360828:G766S ENSP00000360828:G766S G + 1 0 DDX27 47292624 1.000000 0.71417 1.000000 0.80357 0.957000 0.61999 7.104000 0.77024 1.487000 0.48415 0.655000 0.94253 GGC NOVEL DDX27-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080485.1 8 17.38827 KEEP 0 1 26 67 2305 GG 1 1 0 Missense_Mutation + 12 60 438 0 0 27.396449 303 70 11038 477 ENST00000371764.4 0.038095 1 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48429508 48429508 __UNKNOWN__ Intron SNP G G C rs386814860|rs58677849 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48429508G>C ENST00000361573.2 + 1 68 SLC9A8_ENST00000417961.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TTTcccgggcggcggaggcgg 0.711 NA G||| 2398 0.478834 0.643 0.4135 5008 , , NA 9414 0.5615 NA 0.4414 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 G 1549,1563 482,585,489 15 20 18 -2.8 1 20 dbSNP_129 18 1908,3608 468,972,1318 no intron SLC9A8 NM_015266.1 950,1557,1807 CC,CG,GG 34.5903,49.7751,40.0672 48429508 3457,5171 1556 2758 4314 SO:0001627 intron_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.26+23G>C chr20.hg19:g.48429508G>C NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 5.074516 GGCxGCG COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 1 16.655897 KEEP 0 3 102 91 3172 GG 1 0.999996 0 + 12 60 415 0 0 30.577692 102 60 3754 284 ENST00000361573.2 0.105263 0.999996 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48429509 48429509 __UNKNOWN__ Intron SNP G G C rs6020064|rs386814860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48429509G>C ENST00000361573.2 + 1 68 SLC9A8_ENST00000417961.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TTcccgggcggcggaggcggc 0.711 NA G||| 2398 0.478834 0.643 0.4135 5008 , , NA 9471 0.5615 NA 0.4414 False NA ,,, NA NA NA 2504 0.2566 NA NA NA NA 0 G 1534,1578 478,578,500 15 20 18 5.5 1 20 dbSNP_114 18 1890,3608 461,968,1320 no intron SLC9A8 NM_015266.1 939,1546,1820 CC,CG,GG 34.3761,49.2931,39.7677 48429509 3424,5186 1556 2749 4305 SO:0001627 intron_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.26+24G>C chr20.hg19:g.48429509G>C NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 4.99214 GCGxCGG COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 1 16.654097 KEEP 0 3 105 92 3269 GG 1 0.999995 0 + 11 60 373 0 0 26.944122 101 60 3796 280 ENST00000361573.2 0.098214 0.999995 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48446685 48446685 __UNKNOWN__ Intron SNP A A G rs6122833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48446685A>G ENST00000361573.2 + 3 331 SLC9A8_ENST00000417961.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) AAAGAAGTTGAAAATATGTGA 0.483 NA A||| 431 0.0860623 0.0015 0.0562 5008 , , NA 19912 0.3522 NA 0.004 False NA ,,, NA NA NA 2504 0.0317 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.289+7007A>G chr20.hg19:g.48446685A>G NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 2.324368 TTGxAAA COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 0 4.800999 KEEP 0 0 0 16 469 AA 0.997832 0.9976 0 + 5 60 193 0 0 13.377848 82 60 2898 113 ENST00000361573.2 0.057471 0.999768 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48448280 48448280 __UNKNOWN__ Intron SNP T T C rs6020073 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48448280T>C ENST00000361573.2 + 4 331 SLC9A8_ENST00000417961.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CATGTCTAAGTGTCCAGTGTG 0.537 NA C||| 3274 0.653754 0.8812 0.5735 5008 , , NA 19009 0.6796 NA 0.6382 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.290-7798T>C chr20.hg19:g.48448280T>C NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 2.153911 AAGxGTC COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 2 11.133185 KEEP 0 0 0 37 1169 TT 1 0.999919 0 + 9 60 311 0 0 22.469253 86 60 3101 155 ENST00000361573.2 0.094737 0.999919 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48491207 48491207 __UNKNOWN__ Intron SNP G G A rs56309244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48491207G>A ENST00000361573.2 + 11 1000 SLC9A8_ENST00000417961.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000539601.1_Intron Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GGGATCACACGGCAGTGCTTT 0.498 NA G||| 184 0.0367412 0.003 0.062 5008 , , NA 20973 0.0774 NA 0.0437 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 G 67,4339 62.9+/-100.1 1,65,2137 163 119 134 -0.9 0 20 dbSNP_129 134 405,8195 128.2+/-186.4 7,391,3902 no intron SLC9A8 NM_015266.1 8,456,6039 AA,AG,GG 4.7093,1.5207,3.6291 48491207 472,12534 2203 4300 6503 SO:0001627 intron_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.959-35G>A chr20.hg19:g.48491207G>A NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 12.499205 CACxGCA COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 2 9.965114 KEEP 0 1 28 43 1433 GG 1 1 0 + 11 60 406 0 0 24.855695 323 60 10766 424 ENST00000361573.2 0.032934 1 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48506338 48506338 __UNKNOWN__ 3'UTR SNP A A G rs3210880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48506338A>G ENST00000361573.2 + 0 3653 SLC9A8_ENST00000417961.1_3'UTR|SLC9A8_ENST00000490250.1_3'UTR Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TTGTTCTCGCACCCCTGCCAG 0.512 NA G||| 194 0.038738 0.003 0.062 5008 , , NA 16807 0.0853 NA 0.0447 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.*1865A>G chr20.hg19:g.48506338A>G NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 8.170781 CGCxCCC COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 0 15.344367 KEEP 0 0 0 51 1539 AA 1 1 0 + 9 60 312 0 0 19.080662 217 60 7544 319 ENST00000361573.2 0.039823 1 SLC9A8 23315 __UNKNOWN__ __UNKNOWN__ 20 48507388 48507388 __UNKNOWN__ 3'UTR SNP G G A rs2235619 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48507388G>A ENST00000361573.2 + 0 4703 SLC9A8_ENST00000417961.1_3'UTR|SLC9A8_ENST00000490250.1_3'UTR Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 NA NA ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TGGCTGGCATGAGGCCAAGGG 0.612 NA G||| 427 0.0852636 0.0015 0.0562 5008 , , NA 18238 0.3462 NA 0.004 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB023156 CCDS13421.1, CCDS58774.1 20q13.13 2013-05-22 2012-03-22 ENSG00000197818 ENSG00000197818 23315 Solute carriers 20728 protein-coding gene gene with protein product 612730 solute carrier family 9 (sodium/hydrogen exchanger), isoform 8, solute carrier family 9 (sodium/hydrogen exchanger), member 8 NA 12409279 Standard XM_030524 NM_001260491 NA Approved KIAA0939, NHE8 uc002xuv.2 Q9Y2E8 OTTHUMG00000032710 ENST00000361573.2:c.*2915G>A chr20.hg19:g.48507388G>A NA B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507 hg19 CCDS13421.1 0.02 5.950495 CATxAGG COVERED NOVEL SLC9A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106483.3 3 16.551001 KEEP 0 0 0 55 1878 GG 1 1 0 + 6 60 216 0 0 12.987111 178 60 6614 276 ENST00000361573.2 0.032609 1 RNF114 55905 __UNKNOWN__ __UNKNOWN__ 20 48562116 48562116 __UNKNOWN__ Intron SNP T T C rs79598075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48562116T>C ENST00000244061.2 + 3 400 NM_018683.3 NP_061153.1 Q9Y508 RN114_HUMAN ring finger protein 114 NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1) 5 GTATGAATTGTTATGCTGGCT 0.418 NA T||| 194 0.038738 0.003 0.062 5008 , , NA 20115 0.0853 NA 0.0447 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF265215 CCDS33482.1 20q13 2013-01-09 2008-06-16 2008-06-16 ENSG00000124226 ENSG00000124226 55905 RING-type (C3HC4) zinc fingers 13094 protein-coding gene gene with protein product 612451 zinc finger protein 313 ZNF313 NA 18364390 Standard NM_018683 NM_018683 NA Approved PSORS12 uc002xux.3 Q9Y508 OTTHUMG00000032709 ENST00000244061.2:c.398+91T>C chr20.hg19:g.48562116T>C NA B2RDQ9|B4DWY5|E1P627|Q6N0B0 hg19 CCDS33482.1 0.02 4.862624 TTGxTAT COVERED NOVEL RNF114-001 KNOWN mRNA_start_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079663.1 0 6.92185 KEEP 0 0 0 23 757 TT 0.999892 0.999873 0 + 6 60 231 0 0 16.002425 98 60 3517 147 ENST00000244061.2 0.057692 0.999981 SNAI1 6615 __UNKNOWN__ __UNKNOWN__ 20 48599549 48599549 __UNKNOWN__ 5'UTR SNP T T C rs4647954 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:48599549T>C ENST00000244050.2 + 0 14 NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 NA NA cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707) cytoplasm (GO:0005737)|nucleus (GO:0005634) kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) CGAGTGGTTCTTCTGCGCTAC 0.667 NA c||| 2116 0.422524 0.7935 0.3588 5008 , , NA 9923 0.4058 NA 0.2068 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 G 3095,1311 1100,895,208 38 27 31 -6 0 20 dbSNP_111 31 1684,6914 166,1352,2781 no utr-5 SNAI1 NM_005985.3 1266,2247,2989 CC,CT,TT 19.586,29.7549,36.7502 48599549 4779,8225 2203 4299 6502 SO:0001623 5_prime_UTR_variant AF125377 CCDS13423.1 20q13.2 2013-05-23 2013-05-23 ENSG00000124216 ENSG00000124216 6615 Snail homologs, Zinc fingers, C2H2-type 11128 protein-coding gene gene with protein product 604238 snail 1 (drosophila homolog), zinc finger protein, snail homolog 1 (Drosophila) NA 10585766 Standard NM_005985 NA Approved SNA, SLUGH2, SNAH, SNAIL1, SNAIL uc002xuz.3 O95863 OTTHUMG00000033048 ENST00000244050.2:c.-48T>C chr20.hg19:g.48599549T>C NA B2R842|Q9P113|Q9UBP7|Q9UHH7 hg19 CCDS13423.1 0.02 9.884275 TTCxTCT COVERED NOVEL SNAI1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080350.1 1 25.71179 KEEP 0 1 39 99 3058 TT 1 1 0 + 9 60 354 0 0 23.305127 215 70 8033 395 ENST00000244050.2 0.040179 1 PTPN1 5770 __UNKNOWN__ __UNKNOWN__ 20 49181345 49181345 __UNKNOWN__ Intron SNP T T A rs16995294 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:49181345T>A ENST00000371621.3 + 3 328 PTPN1_ENST00000541713.1_Intron NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 NA NA actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337) cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443) enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Tiludronate(DB01133) AAAATCCCAGTCGCCCCATAC 0.443 NA T||| 2560 0.511182 0.326 0.513 5008 , , NA 18749 0.6438 NA 0.5149 False NA ,,, NA NA NA 2504 0.6196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13430.1, CCDS63309.1 20q13.1-q13.2 2011-06-09 ENSG00000196396 ENSG00000196396 5770 Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor 9642 protein-coding gene gene with protein product 176885 PTP1B NA 2164224 Standard NM_002827 NA Approved uc002xvl.3 P18031 OTTHUMG00000032729 ENST00000371621.3:c.155-161T>A chr20.hg19:g.49181345T>A NA Q5TGD8|Q9BQV9|Q9NQQ4 hg19 CCDS13430.1 0.02 3.979699 CAGxCGC COVERED NOVEL PTPN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079694.2 0 4.743845 KEEP 0 1 32 27 753 TT 0.999997 0.999997 0 + 6 60 209 0 0 13.314265 119 60 4084 157 ENST00000371621.3 0.048 1 FAM65C 140876 __UNKNOWN__ __UNKNOWN__ 20 49214156 49214156 __UNKNOWN__ Missense_Mutation SNP A A G rs6020624 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:49214156A>G ENST00000327979.2 - 14 2150 c.1739T>C c.(1738-1740)cTg>cCg p.L580P FAM65C_ENST00000535356.1_Missense_Mutation_p.L584P|FAM65C_ENST00000045083.2_Missense_Mutation_p.L580P Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 580 NA L -> P (in dbSNP:rs6020624). {ECO:0000269|PubMed:14702039}. endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGCTCATCCAGGGCGAAGTC 0.657 NA G||| 3497 0.698283 0.7337 0.6758 5008 , , NA 15441 0.7034 NA 0.7058 False NA ,,, NA NA NA 2504 0.6534 NA NA NA NA 0 G PRO/LEU 3234,1172 394.9+/-329.4 1205,824,174 63 53 56 1739 1.1 0 20 dbSNP_114 56 6081,2519 395.7+/-345.2 2140,1801,359 yes missense FAM65C NM_080829.2 98 3345,2625,533 GG,GA,AA 29.2907,26.6001,28.3792 benign 580/947 49214156 9315,3691 2203 4300 6503 SO:0001583 missense AL133230 CCDS13431.2 20q13.13 2011-11-24 2008-06-13 2008-06-13 ENSG00000042062 ENSG00000042062 140876 16168 protein-coding gene gene with protein product chromosome 20 open reading frame 175, chromosome 20 open reading frame 176 C20orf175, C20orf176 NA Standard XM_005260294 NA Approved dJ530I15.2, dJ530I15.3 uc002xvm.3 Q96MK2 OTTHUMG00000032724 ENST00000327979.2:c.1739T>C chr20.hg19:g.49214156A>G ENSP00000332663:p.Leu580Pro NA Q5QPB6|Q9NQQ2 hg19 CCDS13431.2 0.02 9.803387 TCCxGGG COVERED 1541 0.7055860805860806 370 0.7520325203252033 239 0.6602209944751382 406 0.7097902097902098 526 0.6939313984168866 G 0.642 -0.813151 0.02798 0.733999 0.707093 ENSG00000042062 ENST00000327979;ENST00000045083;ENST00000535356 T;T;T 0.13657 2.58;2.58;2.57 4.6 1.11 0.20524 . 0.737333 0.12258 N 0.485006 T 0.00012 0.0000 N 0.00237 -1.79 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.12116 -1.0560 9 0.39692 T 0.17 -3.9663 4.9545 0.14033 0.0812:0.2788:0.5047:0.1352 rs6020624;rs8121333;rs17197759;rs57799996;rs6020624 584;580 F5H0X2;Q96MK2 .;FA65C_HUMAN P 580;580;584 ENSP00000332663:L580P;ENSP00000045083:L580P;ENSP00000439802:L584P ENSP00000045083:L580P L - 2 0 FAM65C 48647563 0.035000 0.19736 0.000000 0.03702 0.013000 0.08279 1.921000 0.40035 0.101000 0.17610 -0.215000 0.12644 CTG NOVEL FAM65C-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257962.1 1 18.363359 KEEP 0 1 28 71 2229 AA 1 1 0 - 19 60 686 0 0 49.507115 203 60 7467 380 ENST00000327979.2 0.085586 1 FAM65C 140876 __UNKNOWN__ __UNKNOWN__ 20 49236478 49236478 __UNKNOWN__ Intron SNP G G A rs6122953 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:49236478G>A ENST00000327979.2 - 3 669 FAM65C_ENST00000535356.1_Intron|FAM65C_ENST00000045083.2_Intron Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C NA NA endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGAGGCGAGGTAGAGGAATG 0.507 NA G||| 2706 0.540335 0.2163 0.6585 5008 , , NA 20163 0.6766 NA 0.6799 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 G 1268,3138 432.4+/-343.3 185,898,1120 58 53 55 -4.4 0 20 dbSNP_114 55 5802,2798 675.8+/-403.2 1951,1900,449 no intron FAM65C NM_080829.2 2136,2798,1569 AA,AG,GG 32.5349,28.7789,45.6405 49236478 7070,5936 2203 4300 6503 SO:0001627 intron_variant AL133230 CCDS13431.2 20q13.13 2011-11-24 2008-06-13 2008-06-13 ENSG00000042062 ENSG00000042062 140876 16168 protein-coding gene gene with protein product chromosome 20 open reading frame 175, chromosome 20 open reading frame 176 C20orf175, C20orf176 NA Standard XM_005260294 NA Approved dJ530I15.2, dJ530I15.3 uc002xvm.3 Q96MK2 OTTHUMG00000032724 ENST00000327979.2:c.257+44C>T chr20.hg19:g.49236478G>A NA Q5QPB6|Q9NQQ2 hg19 CCDS13431.2 0.02 5.64666 GAGxTAG COVERED NOVEL FAM65C-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000257962.1 1 5.352484 KEEP 0 1 32 29 1020 GG 0.999997 0.999997 0 - 7 60 235 0 0 14.33205 155 60 5461 218 ENST00000327979.2 0.04321 1 ATP9A 10079 __UNKNOWN__ __UNKNOWN__ 20 50255828 50255828 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:50255828C>A ENST00000338821.5 - 15 1933 ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A NA NA phospholipid translocation (GO:0045332) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAGGGACACACGCAGCACACC 0.443 NA OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014511 CCDS33489.1 20q13.2 2010-04-20 2007-09-19 ENSG00000054793 ENSG00000054793 10079 ATPases / P-type 13540 protein-coding gene gene with protein product 609126 ATPase, Class II, type 9A NA 9734811, 11015572 Standard NM_006045 NM_006045 NA Approved KIAA0611, ATPIIA uc002xwg.1 O75110 OTTHUMG00000032751 ENST00000338821.5:c.1668+53G>T chr20.hg19:g.50255828C>A 968 E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7 hg19 CCDS33489.1 0.02 4.254492 ACAxGCA COVERED NOVEL ATP9A-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106494.1 0 11.738247 KEEP 0 0 0 39 1373 CC 1 1 0 - 5 60 182 0 0 11.423791 123 60 4459 199 ENST00000338821.5 0.039062 1 ATP9A 10079 __UNKNOWN__ __UNKNOWN__ 20 50314052 50314052 __UNKNOWN__ Intron SNP C C T rs58432772 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:50314052C>T ENST00000338821.5 - 5 701 ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A NA NA phospholipid translocation (GO:0045332) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GATACATCACCATCTTAATTC 0.453 NA C||| 1162 0.232029 0.0454 0.2349 5008 , , NA 20979 0.4802 NA 0.2853 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 C 384,4022 193.3+/-218.5 18,348,1837 158 141 147 -9.6 0 20 dbSNP_129 147 2223,6377 378.6+/-339.0 295,1633,2372 no intron ATP9A NM_006045.1 313,1981,4209 TT,TC,CC 25.8488,8.7154,20.0446 50314052 2607,10399 2203 4300 6503 SO:0001627 intron_variant AB014511 CCDS33489.1 20q13.2 2010-04-20 2007-09-19 ENSG00000054793 ENSG00000054793 10079 ATPases / P-type 13540 protein-coding gene gene with protein product 609126 ATPase, Class II, type 9A NA 9734811, 11015572 Standard NM_006045 NM_006045 NA Approved KIAA0611, ATPIIA uc002xwg.1 O75110 OTTHUMG00000032751 ENST00000338821.5:c.437-31G>A chr20.hg19:g.50314052C>T NA E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7 hg19 CCDS33489.1 0.02 14.705008 CACxATC COVERED NOVEL ATP9A-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106494.1 2 16.25622 KEEP 0 3 91 86 3053 CC 1 1 0 - 23 60 839 0 0 59.29762 287 60 10983 487 ENST00000338821.5 0.074194 1 ATP9A 10079 __UNKNOWN__ __UNKNOWN__ 20 50377311 50377311 __UNKNOWN__ Intron SNP C C A rs111469032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:50377311C>A ENST00000338821.5 - 1 333 ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A NA NA phospholipid translocation (GO:0045332) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 cgcctgtaatcgcaacacttt 0.493 NA C||| 968 0.193291 0.0303 0.2032 5008 , , NA 16325 0.3115 NA 0.2525 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014511 CCDS33489.1 20q13.2 2010-04-20 2007-09-19 ENSG00000054793 ENSG00000054793 10079 ATPases / P-type 13540 protein-coding gene gene with protein product 609126 ATPase, Class II, type 9A NA 9734811, 11015572 Standard NM_006045 NM_006045 NA Approved KIAA0611, ATPIIA uc002xwg.1 O75110 OTTHUMG00000032751 ENST00000338821.5:c.68+7529G>T chr20.hg19:g.50377311C>A NA E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7 hg19 CCDS33489.1 0.02 -0.06141 AATxGCA UNCOVERED NOVEL ATP9A-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106494.1 2 2.40778 KEEP 0 0 0 8 276 CC 0.99257 0.043461 0 - 2 60 73 0 0 6.792823 3 60 105 21 ENST00000338821.5 0.4 0.043787 ATP9A 10079 __UNKNOWN__ __UNKNOWN__ 20 50384821 50384821 __UNKNOWN__ Intron SNP A A G rs3746416 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:50384821A>G ENST00000338821.5 - 1 333 ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A NA NA phospholipid translocation (GO:0045332) early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AAAGGAAAACACGGGCCCAGG 0.756 NA N||| 1697 0.338858 0.3767 0.2983 5008 , , NA 4836 0.2827 NA 0.4433 False NA ,,, NA NA NA 2504 0.2669 NA NA NA NA 0 G 1109,2061 223,663,699 8 11 10 -1.1 0 20 dbSNP_107 10 2180,3718 460,1260,1229 no intron ATP9A NM_006045.1 683,1923,1928 GG,GA,AA 36.9617,34.9842,36.2704 50384821 3289,5779 1585 2949 4534 SO:0001627 intron_variant AB014511 CCDS33489.1 20q13.2 2010-04-20 2007-09-19 ENSG00000054793 ENSG00000054793 10079 ATPases / P-type 13540 protein-coding gene gene with protein product 609126 ATPase, Class II, type 9A NA 9734811, 11015572 Standard NM_006045 NM_006045 NA Approved KIAA0611, ATPIIA uc002xwg.1 O75110 OTTHUMG00000032751 ENST00000338821.5:c.68+19T>C chr20.hg19:g.50384821A>G NA E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7 hg19 CCDS33489.1 0.02 4.87487 AACxCGG COVERED NOVEL ATP9A-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000106494.1 1 26.001541 KEEP 0 1 36 99 2925 AA 1 0.999978 0 - 6 60 219 0 0 14.842859 97 60 3322 309 ENST00000338821.5 0.058252 0.999978 TSHZ2 128553 __UNKNOWN__ __UNKNOWN__ 20 51870225 51870225 __UNKNOWN__ Silent SNP T T C rs369835985 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:51870225T>C ENST00000371497.5 + 2 1115 c.228T>C c.(226-228)aaT>aaC p.N76N TSHZ2_ENST00000603338.2_Silent_p.N73N|TSHZ2_ENST00000329613.6_Silent_p.N73N NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 76 NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ATTTGTCCAATCAGGATGCCG 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 136 116 123 NA NA 20 NA 51870225 2203 4300 6503 SO:0001819 synonymous_variant AF230201 CCDS33490.1, CCDS54474.1 20q13.2 2013-11-20 2007-07-16 2006-03-14 ENSG00000182463 ENSG00000182463 128553 Teashirt zinc fingers, Homeoboxes / ZF class, Zinc fingers, C2H2-type 13010 protein-coding gene gene with protein product 614118 chromosome 20 open reading frame 17, zinc finger protein 218, teashirt family zinc finger 2 C20orf17, ZNF218 NA 9671742 Standard NM_173485 NM_173485 NA Approved ZABC2, OVC10-2, TSH2 uc021wex.1 Q9NRE2 OTTHUMG00000033058 ENST00000371497.5:c.228T>C chr20.hg19:g.51870225T>C NA B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260 hg19 CCDS33490.1 0.02 9.327246 CAAxCAG COVERED NOVEL TSHZ2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080398.6 0 14.141535 KEEP 0 0 0 47 1481 TT 1 1 0 + 8 60 295 0 0 18.60466 200 60 7176 309 ENST00000371497.5 0.038462 1 ZNF217 7764 __UNKNOWN__ __UNKNOWN__ 20 52185814 52185814 __UNKNOWN__ Intron SNP C C A rs4602270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52185814C>A ENST00000371471.2 - 6 3596 RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Intron O75362 ZN217_HUMAN zinc finger protein 217 NA NA negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654) metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CTAAGGAAAACAACATTTTTT 0.318 NA A||| 3902 0.779153 0.8661 0.7392 5008 , , NA 18529 0.8274 NA 0.6978 False NA ,,, NA NA NA 2504 0.7239 NA NA NA NA 0 13 13 13 NA NA 20 NA 52185814 875 1990 2865 SO:0001627 intron_variant AF041259 CCDS13443.1 20q13.2 2013-01-08 ENSG00000171940 ENSG00000171940 7764 Zinc fingers, C2H2-type 13009 protein-coding gene gene with protein product 602967 NA 9671742 Standard NM_006526 NM_006526 NA Approved ZABC1 uc002xwq.4 O75362 OTTHUMG00000032764 ENST00000371471.2:c.3145-11G>T chr20.hg19:g.52185814C>A NA E1P5Y6|Q14DB8 hg19 CCDS13443.1 0.02 7.595625 AAAxAAC COVERED NOVEL ZNF217-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079757.2 1 3.077681 KEEP 0 2 56 30 1042 CC 0.999998 0.999998 0 - 14 60 499 0 0 33.257281 232 60 8808 287 ENST00000371471.2 0.056911 1 BCAS1 8537 __UNKNOWN__ __UNKNOWN__ 20 52573971 52573971 __UNKNOWN__ Splice_Site SNP T T G rs35575210 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52573971T>G ENST00000395961.3 - 10 1582 c.1416A>C c.(1414-1416)caA>caC p.Q472H BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Intron NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 472 NA Q -> H (in dbSNP:rs35575210). cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GGTCACTTACTTGGCAGCTGG 0.433 NA T||| 662 0.132188 0.0265 0.1354 5008 , , NA 20559 0.1429 NA 0.1899 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 T HIS/GLN 205,4201 125.7+/-162.9 3,199,2001 225 181 196 1416 4.4 1 20 dbSNP_126 196 1645,6955 302.6+/-306.0 151,1343,2806 yes missense-near-splice BCAS1 NM_003657.2 24 154,1542,4807 GG,GT,TT 19.1279,4.6527,14.2242 probably-damaging 472/585 52573971 1850,11156 2203 4300 6503 SO:0001630 splice_region_variant AF041260 CCDS13444.1 20q13.2 2006-11-10 ENSG00000064787 ENSG00000064787 8537 974 protein-coding gene gene with protein product 602968 NA 9671742 Standard NM_003657 NM_003657 NA Approved NABC1, AIBC1 uc002xws.2 O75363 OTTHUMG00000032772 ENST00000395961.3:c.1416+1A>C chr20.hg19:g.52573971T>G NA A0AVG5|Q68CZ3 hg19 CCDS13444.1 0.02 12.709193 TACxTGG COVERED 278|278 0.12728937728937728|0.12728937728937728 10|10 0.02032520325203252|0.02032520325203252 58|58 0.16022099447513813|0.16022099447513813 68|68 0.11888111888111888|0.11888111888111888 142|142 0.18733509234828497|0.18733509234828497 T|T 18.88|18.88 3.717957|3.717957 0.68844|0.68844 0.046527|0.046527 0.191279|0.191279 ENSG00000064787|ENSG00000064787 ENST00000422805|ENST00000395961 .|T .|0.21361 .|2.01 5.55|5.55 4.43|4.43 0.53597|0.53597 .|. .|. .|. .|. .|. T|T 0.00039|0.00039 0.0001|0.0001 L|L 0.58101|0.58101 1.795|1.795 0.09310|0.09310 P|P 0.9999999999999795|0.9999999999999795 .|P;P .|0.35348 .|0.496;0.496 .|B;B .|0.34242 .|0.178;0.178 T|T 0.21177|0.21177 -1.0253|-1.0253 4|7 .|. .|. .|. .|. 6.56|6.56 0.22481|0.22481 0.1465:0.0:0.1745:0.679|0.1465:0.0:0.1745:0.679 rs35575210;rs61749686|rs35575210;rs61749686 .|472;472 .|A0AVG7;O75363 .|.;BCAS1_HUMAN T|H 135|472 .|ENSP00000379290:Q472H .|. K|Q -|- 2|3 0|2 BCAS1|BCAS1 52007378|52007378 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.912000|0.912000 0.54170|0.54170 1.178000|1.178000 0.31981|0.31981 0.908000|0.908000 0.36671|0.36671 0.459000|0.459000 0.35465|0.35465 AAA|CAA NOVEL BCAS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079766.2 0 18.355515 KEEP 0 0 0 61 1955 TT 1 1 0 Missense_Mutation - 12 60 425 0 0 26.183944 298 60 11136 475 ENST00000395961.3 0.03871 1 BCAS1 8537 __UNKNOWN__ __UNKNOWN__ 20 52592026 52592026 __UNKNOWN__ Intron SNP T T C rs2302039 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52592026T>C ENST00000395961.3 - 8 1307 BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Intron NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) ACAAAATTGTTACATAAAAGC 0.423 NA T||| 641 0.127995 0.0098 0.134 5008 , , NA 15548 0.1419 NA 0.1948 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 T 43,1341 1,41,650 46 41 42 -0.1 0 20 dbSNP_100 42 564,2618 46,472,1073 no intron BCAS1 NM_003657.2 47,513,1723 CC,CT,TT 17.7247,3.1069,13.2939 52592026 607,3959 692 1591 2283 SO:0001627 intron_variant AF041260 CCDS13444.1 20q13.2 2006-11-10 ENSG00000064787 ENSG00000064787 8537 974 protein-coding gene gene with protein product 602968 NA 9671742 Standard NM_003657 NM_003657 NA Approved NABC1, AIBC1 uc002xws.2 O75363 OTTHUMG00000032772 ENST00000395961.3:c.1141-57A>G chr20.hg19:g.52592026T>C NA A0AVG5|Q68CZ3 hg19 CCDS13444.1 0.02 7.526672 TGTxACA COVERED NOVEL BCAS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079766.2 0 14.436565 KEEP 0 0 0 48 1414 TT 1 1 0 - 7 60 274 0 0 17.979529 168 60 6067 286 ENST00000395961.3 0.04 1 BCAS1 8537 __UNKNOWN__ __UNKNOWN__ 20 52592070 52592070 __UNKNOWN__ Intron SNP G G A rs3815270 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52592070G>A ENST00000395961.3 - 8 1307 BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Intron NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) CTTGGGGTGCGTTCGGGGACA 0.338 NA G||| 664 0.132588 0.0265 0.1354 5008 , , NA 15541 0.1419 NA 0.1948 False NA ,,, NA NA NA 2504 0.2004 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF041260 CCDS13444.1 20q13.2 2006-11-10 ENSG00000064787 ENSG00000064787 8537 974 protein-coding gene gene with protein product 602968 NA 9671742 Standard NM_003657 NM_003657 NA Approved NABC1, AIBC1 uc002xws.2 O75363 OTTHUMG00000032772 ENST00000395961.3:c.1141-101C>T chr20.hg19:g.52592070G>A NA A0AVG5|Q68CZ3 hg19 CCDS13444.1 0.02 6.624684 TGCxTTC COVERED NOVEL BCAS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079766.2 1 15.651341 KEEP 0 0 0 52 1863 GG 1 1 0 - 7 60 240 0 0 14.800004 157 60 5696 296 ENST00000395961.3 0.042683 1 BCAS1 8537 __UNKNOWN__ __UNKNOWN__ 20 52645290 52645290 __UNKNOWN__ Missense_Mutation SNP C C G rs200609261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52645290C>G ENST00000395961.3 - 4 530 c.364G>C c.(364-366)Gat>Cat p.D122H BCAS1_ENST00000371435.2_Missense_Mutation_p.D122H|BCAS1_ENST00000371440.3_Missense_Mutation_p.D122H|BCAS1_ENST00000411563.1_Missense_Mutation_p.D25H NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 122 NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GAGCTGACATCAAGCTTCACT 0.537 NA C||| 21 0.00419329 0.0 0.0 5008 , , NA 20435 0.0169 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 66 67 67 NA NA 20 NA 52645290 2203 4300 6503 SO:0001583 missense AF041260 CCDS13444.1 20q13.2 2006-11-10 ENSG00000064787 ENSG00000064787 8537 974 protein-coding gene gene with protein product 602968 NA 9671742 Standard NM_003657 NM_003657 NA Approved NABC1, AIBC1 uc002xws.2 O75363 OTTHUMG00000032772 ENST00000395961.3:c.364G>C chr20.hg19:g.52645290C>G ENSP00000379290:p.Asp122His NA A0AVG5|Q68CZ3 hg19 CCDS13444.1 0.02 6.817114 CATxAAG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 17.70 3.454759 0.63290 . . ENSG00000064787 ENST00000371440;ENST00000395961;ENST00000371435;ENST00000411563 T;T;T;T 0.15372 2.43;2.43;2.43;2.43 5.11 4.17 0.49024 . 0.206931 0.42420 D 0.000714 T 0.37598 0.1009 M 0.66939 2.045 0.41381 D 0.987551 D;D;D;D;D;D 0.89917 1.0;0.997;0.997;1.0;1.0;1.0 D;D;D;D;D;D 0.91635 0.986;0.939;0.939;0.999;0.999;0.999 T 0.18116 -1.0347 10 0.72032 D 0.01 -7.5557 10.6993 0.45918 0.0:0.9102:0.0:0.0898 . 25;122;122;122;122;122 B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363 .;.;.;.;.;BCAS1_HUMAN H 122;122;122;25 ENSP00000360495:D122H;ENSP00000379290:D122H;ENSP00000360490:D122H;ENSP00000397442:D25H ENSP00000360490:D122H D - 1 0 BCAS1 52078697 1.000000 0.71417 0.946000 0.38457 0.743000 0.42351 2.500000 0.45381 1.277000 0.44412 0.563000 0.77884 GAT NOVEL BCAS1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079766.2 0 10.230389 KEEP 0 0 0 34 1159 CC 0.999998 0.999998 0 - 9 60 322 0 0 20.692656 190 60 7161 271 ENST00000395961.3 0.045226 1 CYP24A1 1591 __UNKNOWN__ __UNKNOWN__ 20 52774601 52774601 __UNKNOWN__ Intron SNP A A G rs2274130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52774601A>G ENST00000216862.3 - 9 1630 CYP24A1_ENST00000395954.3_Intron|CYP24A1_ENST00000395955.3_Intron NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 NA NA osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805) mitochondrial inner membrane (GO:0005743) 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TTTGTAAGGTATAGAATATAC 0.383 NA G||| 1982 0.395767 0.4614 0.2695 5008 , , NA 21361 0.6052 NA 0.2078 False NA ,,, NA NA NA 2504 0.3742 NA NA NA NA 0 G , 1791,2615 640.3+/-397.3 350,1091,762 58 59 59 , -7.4 0 20 dbSNP_100 59 1814,6786 730.8+/-406.8 181,1452,2667 no intron,intron CYP24A1 NM_000782.4,NM_001128915.1 , 531,2543,3429 GG,GA,AA 21.093,40.6491,27.718 , , 52774601 3605,9401 2203 4300 6503 SO:0001627 intron_variant U60669 CCDS33491.1, CCDS46616.1 20q13.2-q13.3 2003-02-28 2003-02-14 2003-02-28 ENSG00000019186 ENSG00000019186 1591 Cytochrome P450s 2602 protein-coding gene gene with protein product 126065 cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase) CYP24 NA Standard NM_000782 NA Approved CP24, P450-CC24 uc002xwv.2 Q07973 OTTHUMG00000032773 ENST00000216862.3:c.1236+23T>C chr20.hg19:g.52774601A>G NA Q15807|Q32ML3|Q5I2W7 hg19 CCDS33491.1 0.02 5.079976 GGTxTAG COVERED NOVEL CYP24A1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079769.2 0 3.008705 KEEP 0 0 0 10 304 AA 0.992708 0.992681 0 - 8 60 309 0 0 22.541082 94 60 3341 126 ENST00000216862.3 0.078431 0.999973 CYP24A1 1591 __UNKNOWN__ __UNKNOWN__ 20 52775528 52775528 __UNKNOWN__ Silent SNP C C T rs2296239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:52775528C>T ENST00000216862.3 - 8 1518 c.1125G>A c.(1123-1125)ccG>ccA p.P375P CYP24A1_ENST00000395954.3_Silent_p.P233P|CYP24A1_ENST00000395955.3_Silent_p.P375P NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 375 NA osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805) mitochondrial inner membrane (GO:0005743) 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491) breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) CTTTTAAATACGGCATATTCC 0.398 NA C||| 1981 0.395567 0.4614 0.2695 5008 , , NA 18576 0.6052 NA 0.2078 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 C , 1792,2614 525.2+/-371.5 349,1094,760 127 134 131 1125,1125 -8.8 0.9 20 dbSNP_100 131 1813,6787 325.9+/-317.1 181,1451,2668 no coding-synonymous,coding-synonymous CYP24A1 NM_000782.4,NM_001128915.1 , 530,2545,3428 TT,TC,CC 21.0814,40.6718,27.718 , 375/515,375/449 52775528 3605,9401 2203 4300 6503 SO:0001819 synonymous_variant U60669 CCDS33491.1, CCDS46616.1 20q13.2-q13.3 2003-02-28 2003-02-14 2003-02-28 ENSG00000019186 ENSG00000019186 1591 Cytochrome P450s 2602 protein-coding gene gene with protein product 126065 cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase) CYP24 NA Standard NM_000782 NA Approved CP24, P450-CC24 uc002xwv.2 Q07973 OTTHUMG00000032773 ENST00000216862.3:c.1125G>A chr20.hg19:g.52775528C>T NA Q15807|Q32ML3|Q5I2W7 hg19 CCDS33491.1 0.02 23.432074 ATAxGGC COVERED NOVEL CYP24A1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079769.2 3 10.834111 KEEP 0 0 0 36 1225 CC 0.999999 0.999999 0 - 31 60 1167 0 0 80.542829 487 60 17337 670 ENST00000216862.3 0.059846 1 DOK5 55816 __UNKNOWN__ __UNKNOWN__ 20 53259964 53259964 __UNKNOWN__ Intron SNP G G C rs6064099 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:53259964G>C ENST00000262593.5 + 7 1085 DOK5_ENST00000395939.1_Intron NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 NA NA MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) receptor signaling protein activity (GO:0005057) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) CCCCAGTGTTGCTGACGCACA 0.562 NA C||| 1894 0.378195 0.6044 0.2334 5008 , , NA 19919 0.4504 NA 0.2555 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 C 2385,2021 557.3+/-379.7 633,1119,451 47 45 46 -1.6 0 20 dbSNP_114 46 2298,6302 699.8+/-405.1 303,1692,2305 no intron DOK5 NM_018431.3 936,2811,2756 CC,CG,GG 26.7209,45.8693,36.0065 53259964 4683,8323 2203 4300 6503 SO:0001627 intron_variant AF132732 CCDS13446.1, CCDS13447.1 20q13.2 2013-01-10 2002-11-28 2002-11-29 ENSG00000101134 ENSG00000101134 55816 Pleckstrin homology (PH) domain containing 16173 protein-coding gene gene with protein product 608334 chromosome 20 open reading frame 180 C20orf180 NA 11470823 Standard XM_005260451 NA Approved dJ805C22.1 uc002xwy.3 Q9P104 OTTHUMG00000032778 ENST00000262593.5:c.736-33G>C chr20.hg19:g.53259964G>C NA Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411 hg19 CCDS13446.1 0.02 4.476453 GTTxCTG COVERED NOVEL DOK5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079777.2 0 5.718409 KEEP 0 0 0 19 674 GG 0.99986 0.99986 0 + 11 60 409 0 0 29.140383 137 60 5284 210 ENST00000262593.5 0.074324 1 CASS4 57091 __UNKNOWN__ __UNKNOWN__ 20 55012318 55012318 __UNKNOWN__ Silent SNP G G A rs911159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55012318G>A ENST00000360314.3 + 3 360 c.135G>A c.(133-135)gtG>gtA p.V45V CASS4_ENST00000371336.3_Silent_p.V45V|CASS4_ENST00000434344.1_Silent_p.V45V NM_001164116.1 NP_001157588.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 45 SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}. NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AGCAACACGTGCCAGAAAGCG 0.602 NA G||| 678 0.135383 0.0817 0.1628 5008 , , NA 19017 0.1508 NA 0.1501 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 G ,,, 450,3956 215.8+/-234.7 21,408,1774 71 66 68 135,135,135,135 1 0.7 20 dbSNP_86 68 1240,7360 249.4+/-276.7 88,1064,3148 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CASS4 NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3 ,,, 109,1472,4922 AA,AG,GG 14.4186,10.2133,12.994 ,,, 45/733,45/350,45/787,45/787 55012318 1690,11316 2203 4300 6503 SO:0001819 synonymous_variant AJ276678 CCDS33492.1, CCDS54475.1 20q13.31 2011-04-13 2008-04-14 2008-04-15 ENSG00000087589 ENSG00000087589 57091 Cas scaffolding proteins 15878 protein-coding gene gene with protein product HEF-like protein, HEF1-Efs-p130Cas-like chromosome 20 open reading frame 32 C20orf32 NA Standard NM_020356 NM_020356 NA Approved HEFL, HEPL uc002xxr.2 Q9NQ75 OTTHUMG00000032788 ENST00000360314.3:c.135G>A chr20.hg19:g.55012318G>A NA E1P5Z8|Q5QPD6|Q96K09|Q9BYL5 hg19 CCDS33492.1 0.02 14.784491 CGTxCCA COVERED NOVEL CASS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079789.2 0 27.389022 KEEP 0 0 0 91 3229 GG 1 1 0 + 14 60 506 0 0 31.641614 343 60 13064 568 ENST00000360314.3 0.039216 1 CASS4 57091 __UNKNOWN__ __UNKNOWN__ 20 55025762 55025762 __UNKNOWN__ Intron SNP G G A rs6069753 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55025762G>A ENST00000360314.3 + 5 867 CASS4_ENST00000371336.3_Intron|CASS4_ENST00000434344.1_Intron NM_001164116.1 NP_001157588.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 NA NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GCTAAGGTGCGGTGTTATGAA 0.512 NA A||| 2326 0.464457 0.8056 0.4121 5008 , , NA 18986 0.5069 NA 0.2555 False NA ,,, NA NA NA 2504 0.2117 NA NA NA NA 0 A ,,, 3205,1201 416.3+/-337.5 1160,885,158 71 51 58 ,,, -5.9 0 20 dbSNP_114 58 2248,6352 703.8+/-405.4 303,1642,2355 no intron,intron,intron,intron CASS4 NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3 ,,, 1463,2527,2513 AA,AG,GG 26.1395,27.2583,41.9268 ,,, ,,, 55025762 5453,7553 2203 4300 6503 SO:0001627 intron_variant AJ276678 CCDS33492.1, CCDS54475.1 20q13.31 2011-04-13 2008-04-14 2008-04-15 ENSG00000087589 ENSG00000087589 57091 Cas scaffolding proteins 15878 protein-coding gene gene with protein product HEF-like protein, HEF1-Efs-p130Cas-like chromosome 20 open reading frame 32 C20orf32 NA Standard NM_020356 NM_020356 NA Approved HEFL, HEPL uc002xxr.2 Q9NQ75 OTTHUMG00000032788 ENST00000360314.3:c.642+27G>A chr20.hg19:g.55025762G>A NA E1P5Z8|Q5QPD6|Q96K09|Q9BYL5 hg19 CCDS33492.1 0.02 4.683814 TGCxGTG COVERED NOVEL CASS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079789.2 1 8.414678 KEEP 0 0 0 28 928 GG 0.999997 0.999992 0 + 7 60 266 0 0 18.543065 106 60 3787 164 ENST00000360314.3 0.061947 0.999995 CASS4 57091 __UNKNOWN__ __UNKNOWN__ 20 55033420 55033420 __UNKNOWN__ Missense_Mutation SNP C C T rs35031530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55033420C>T ENST00000360314.3 + 7 2203 c.1978C>T c.(1978-1980)Cct>Tct p.P660S CASS4_ENST00000371336.3_Missense_Mutation_p.P660S|CASS4_ENST00000434344.1_Missense_Mutation_p.P223S NM_001164116.1 NP_001157588.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 660 NA P -> S (in dbSNP:rs35031530). {ECO:0000269|PubMed:14702039}. cell adhesion (GO:0007155) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 TATACCTCAGCCTTCGAGTCA 0.507 NA C||| 735 0.146765 0.3086 0.0403 5008 , , NA 13987 0.2381 NA 0.004 False NA ,,, NA NA NA 2504 0.0562 NA NA NA NA 0 C SER/PRO,SER/PRO,SER/PRO,SER/PRO 1094,3312 372.0+/-320.2 134,826,1243 51 57 55 1816,667,1978,1978 -2.6 0 20 dbSNP_126 55 33,8567 22.2+/-67.0 0,33,4267 yes missense,missense,missense,missense CASS4 NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3 74,74,74,74 134,859,5510 TT,TC,CC 0.3837,24.8298,8.6652 benign,benign,benign,benign 606/733,223/350,660/787,660/787 55033420 1127,11879 2203 4300 6503 SO:0001583 missense AJ276678 CCDS33492.1, CCDS54475.1 20q13.31 2011-04-13 2008-04-14 2008-04-15 ENSG00000087589 ENSG00000087589 57091 Cas scaffolding proteins 15878 protein-coding gene gene with protein product HEF-like protein, HEF1-Efs-p130Cas-like chromosome 20 open reading frame 32 C20orf32 NA Standard NM_020356 NM_020356 NA Approved HEFL, HEPL uc002xxr.2 Q9NQ75 OTTHUMG00000032788 ENST00000360314.3:c.1978C>T chr20.hg19:g.55033420C>T ENSP00000353462:p.Pro660Ser NA E1P5Z8|Q5QPD6|Q96K09|Q9BYL5 hg19 CCDS33492.1 0.02 12.856325 CAGxCTT COVERED 297 0.13598901098901098 135 0.27439024390243905 12 0.03314917127071823 148 0.25874125874125875 2 0.002638522427440633 C 8.848 0.943837 0.18281 0.248298 0.003837 ENSG00000087589 ENST00000360314;ENST00000371336;ENST00000434344 T;T;T 0.20738 2.05;2.05;2.05 5.65 -2.58 0.06228 CAS family, DUF3513 (1); 1.567350 0.02946 N 0.141079 T 0.00012 0.0000 N 0.11560 0.145 0.80722 P 0.0 B;B;B 0.06786 0.001;0.001;0.001 B;B;B 0.12837 0.003;0.004;0.008 T 0.41052 -0.9530 9 0.18276 T 0.48 -1.3722 0.1155 0.00060 0.2771:0.2108:0.1786:0.3335 rs35031530;rs57004305 606;223;660 B4DII4;Q9NQ75-3;Q9NQ75 .;.;CASS4_HUMAN S 660;660;223 ENSP00000353462:P660S;ENSP00000360387:P660S;ENSP00000410027:P223S ENSP00000353462:P660S P + 1 0 CASS4 54466827 0.000000 0.05858 0.002000 0.10522 0.010000 0.07245 -0.416000 0.07097 -0.141000 0.11374 -0.878000 0.02970 CCT NOVEL CASS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079789.2 2 26.741719 KEEP 0 0 0 89 3156 CC 1 1 0 + 22 60 731 0 0 48.989238 293 60 10916 510 ENST00000360314.3 0.069841 1 CASS4 57091 __UNKNOWN__ __UNKNOWN__ 20 55033476 55033476 __UNKNOWN__ Silent SNP C C G rs3746623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55033476C>G ENST00000360314.3 + 7 2259 c.2034C>G c.(2032-2034)ctC>ctG p.L678L CASS4_ENST00000371336.3_Silent_p.L678L|CASS4_ENST00000434344.1_Silent_p.L241L NM_001164116.1 NP_001157588.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 678 NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ACTGCCGGCTCTACTTTGGGG 0.547 NA G||| 2634 0.525958 0.416 0.5231 5008 , , NA 14490 0.9196 NA 0.339 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 G ,,, 1783,2623 643.2+/-397.8 374,1035,794 58 59 59 1872,723,2034,2034 -1.1 1 20 dbSNP_107 59 2924,5676 669.8+/-402.7 469,1986,1845 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CASS4 NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3 ,,, 843,3021,2639 GG,GC,CC 34.0,40.4675,36.191 ,,, 624/733,241/350,678/787,678/787 55033476 4707,8299 2203 4300 6503 SO:0001819 synonymous_variant AJ276678 CCDS33492.1, CCDS54475.1 20q13.31 2011-04-13 2008-04-14 2008-04-15 ENSG00000087589 ENSG00000087589 57091 Cas scaffolding proteins 15878 protein-coding gene gene with protein product HEF-like protein, HEF1-Efs-p130Cas-like chromosome 20 open reading frame 32 C20orf32 NA Standard NM_020356 NM_020356 NA Approved HEFL, HEPL uc002xxr.2 Q9NQ75 OTTHUMG00000032788 ENST00000360314.3:c.2034C>G chr20.hg19:g.55033476C>G NA E1P5Z8|Q5QPD6|Q96K09|Q9BYL5 hg19 CCDS33492.1 0.02 13.997558 GCTxTAC COVERED NOVEL CASS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079789.2 2 26.723173 KEEP 0 1 38 102 3618 CC 1 1 0 + 25 60 920 0 0 66.159475 286 60 10805 500 ENST00000360314.3 0.080386 1 CASS4 57091 __UNKNOWN__ __UNKNOWN__ 20 55033713 55033713 __UNKNOWN__ Silent SNP G G A rs3746626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55033713G>A ENST00000360314.3 + 7 2496 c.2271G>A c.(2269-2271)acG>acA p.T757T CASS4_ENST00000371336.3_Silent_p.T757T|CASS4_ENST00000434344.1_Silent_p.T320T NM_001164116.1 NP_001157588.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 757 NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CCGTGCTCACGTACCCCAGCC 0.642 NA G||| 2632 0.525559 0.413 0.5245 5008 , , NA 20324 0.9196 NA 0.34 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 G ,,, 1768,2636 516.2+/-369.1 370,1028,804 50 41 44 2109,960,2271,2271 -0.1 0 20 dbSNP_107 44 2916,5682 448.5+/-361.8 468,1980,1851 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous CASS4 NM_001164114.1,NM_001164115.1,NM_001164116.1,NM_020356.3 ,,, 838,3008,2655 AA,AG,GG 33.9149,40.1453,36.0252 ,,, 703/733,320/350,757/787,757/787 55033713 4684,8318 2202 4299 6501 SO:0001819 synonymous_variant AJ276678 CCDS33492.1, CCDS54475.1 20q13.31 2011-04-13 2008-04-14 2008-04-15 ENSG00000087589 ENSG00000087589 57091 Cas scaffolding proteins 15878 protein-coding gene gene with protein product HEF-like protein, HEF1-Efs-p130Cas-like chromosome 20 open reading frame 32 C20orf32 NA Standard NM_020356 NM_020356 NA Approved HEFL, HEPL uc002xxr.2 Q9NQ75 OTTHUMG00000032788 ENST00000360314.3:c.2271G>A chr20.hg19:g.55033713G>A NA E1P5Z8|Q5QPD6|Q96K09|Q9BYL5 hg19 CCDS33492.1 0.02 6.176376 CACxTAC COVERED NOVEL CASS4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079789.2 1 5.452556 KEEP 0 1 34 30 998 GG 0.999997 0.999997 0 + 7 60 252 0 0 15.678501 174 60 5765 234 ENST00000360314.3 0.038674 1 CASS4 57091 __UNKNOWN__ __UNKNOWN__ 20 55033856 55033856 __UNKNOWN__ 3'UTR SNP A A C rs4811697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55033856A>C ENST00000434344.1 + 0 1301 CASS4_ENST00000371336.3_3'UTR NM_001164115.1 NP_001157587.1 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 NA NA cell adhesion (GO:0007155) cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020) phosphorelay sensor kinase activity (GO:0000155) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CACACCCACAACTTGTGCAAC 0.557 NA A||| 2638 0.526757 0.4175 0.5245 5008 , , NA 18186 0.9196 NA 0.339 False NA ,,, NA NA NA 2504 0.4642 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ276678 CCDS33492.1, CCDS54475.1 20q13.31 2011-04-13 2008-04-14 2008-04-15 ENSG00000087589 ENSG00000087589 57091 Cas scaffolding proteins 15878 protein-coding gene gene with protein product HEF-like protein, HEF1-Efs-p130Cas-like chromosome 20 open reading frame 32 C20orf32 NA Standard NM_020356 NM_020356 NA Approved HEFL, HEPL uc002xxr.2 Q9NQ75 OTTHUMG00000032788 ENST00000434344.1:c.*53A>C chr20.hg19:g.55033856A>C NA E1P5Z8|Q5QPD6|Q96K09|Q9BYL5 hg19 CCDS54475.1 0.02 13.302129 ACAxCTT COVERED NOVEL CASS4-002 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000079790.2 2 9.385102 KEEP 0 3 76 58 1813 AA 1 1 0 + 13 60 478 0 0 30.362443 309 60 10998 488 ENST00000434344.1 0.040373 1 RTFDC1 51507 __UNKNOWN__ __UNKNOWN__ 20 55045632 55045632 __UNKNOWN__ Intron SNP G G A rs6024898 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55045632G>A ENST00000395881.3 + 1 153 RTFDC1_ENST00000435342.2_Intron|RTFDC1_ENST00000023939.4_Intron|RTFDC1_ENST00000357348.5_Intron|RTFDC1_ENST00000484084.1_Intron NM_001283037.1 NP_001269966.1 Q9BY42 RTF2_HUMAN replication termination factor 2 domain containing 1 NA NA NA cctgggtgacgggatcatctt 0.468 NA A||| 2770 0.553115 0.4887 0.5375 5008 , , NA 19031 0.9177 NA 0.3549 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161513 CCDS13453.1, CCDS63316.1, CCDS63317.1 20q13 2012-10-29 2012-10-29 2012-10-29 ENSG00000022277 ENSG00000022277 51507 15890 protein-coding gene gene with protein product chromosome 20 open reading frame 43 C20orf43 NA Standard NM_016407 NM_001283035 NA Approved HSPC164, CDAO5 uc002xxt.2 Q9BY42 OTTHUMG00000032801 ENST00000395881.3:c.69+1810G>A chr20.hg19:g.55045632G>A NA E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3 hg19 0.02 9.192342 GACxGGA COVERED NOVEL RTFDC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000259433.1 2 19.998271 KEEP 0 4 118 108 3608 GG 1 1 0 + 13 60 469 0 0 31.888688 199 60 6973 411 ENST00000395881.3 0.061321 1 RTFDC1 51507 __UNKNOWN__ __UNKNOWN__ 20 55045843 55045843 __UNKNOWN__ Intron SNP T T C rs6014740 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55045843T>C ENST00000395881.3 + 1 153 RTFDC1_ENST00000435342.2_3'UTR|RTFDC1_ENST00000023939.4_Intron|RTFDC1_ENST00000357348.5_Intron|RTFDC1_ENST00000484084.1_3'UTR NM_001283037.1 NP_001269966.1 Q9BY42 RTF2_HUMAN replication termination factor 2 domain containing 1 NA NA NA agttgagggtttggagatttt 0.507 NA T||| 2106 0.420527 0.2852 0.415 5008 , , NA 18157 0.6359 NA 0.3459 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161513 CCDS13453.1, CCDS63316.1, CCDS63317.1 20q13 2012-10-29 2012-10-29 2012-10-29 ENSG00000022277 ENSG00000022277 51507 15890 protein-coding gene gene with protein product chromosome 20 open reading frame 43 C20orf43 NA Standard NM_016407 NM_001283035 NA Approved HSPC164, CDAO5 uc002xxt.2 Q9BY42 OTTHUMG00000032801 ENST00000395881.3:c.69+2021T>C chr20.hg19:g.55045843T>C NA E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3 hg19 0.02 2.469735 GGTxTGG COVERED NOVEL RTFDC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000259433.1 1 3.610933 KEEP 0 0 0 12 384 TT 0.993634 0.979875 0 + 5 60 193 0 0 14.250545 54 60 1928 72 ENST00000395881.3 0.084746 0.986153 RTFDC1 51507 __UNKNOWN__ __UNKNOWN__ 20 55049908 55049908 __UNKNOWN__ Intron SNP A A G rs1474890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55049908A>G ENST00000395881.3 + 3 342 RTFDC1_ENST00000023939.4_Intron|RTFDC1_ENST00000357348.5_Intron NM_001283037.1 NP_001269966.1 Q9BY42 RTF2_HUMAN replication termination factor 2 domain containing 1 NA NA NA CGCCTTAAAgactgaactcag 0.408 NA A||| 2678 0.534744 0.4206 0.5288 5008 , , NA 16780 0.9177 NA 0.3559 False NA ,,, NA NA NA 2504 0.4826 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF161513 CCDS13453.1, CCDS63316.1, CCDS63317.1 20q13 2012-10-29 2012-10-29 2012-10-29 ENSG00000022277 ENSG00000022277 51507 15890 protein-coding gene gene with protein product chromosome 20 open reading frame 43 C20orf43 NA Standard NM_016407 NM_001283035 NA Approved HSPC164, CDAO5 uc002xxt.2 Q9BY42 OTTHUMG00000032801 ENST00000395881.3:c.258+81A>G chr20.hg19:g.55049908A>G NA E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3 hg19 0.02 7.041772 AAGxCTG COVERED NOVEL RTFDC1-004 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000259433.1 1 5.950445 KEEP 0 1 38 33 956 AA 0.999998 0.999998 0 + 13 60 467 0 0 33.266716 149 60 5251 223 ENST00000395881.3 0.080247 1 FAM209B 388799 __UNKNOWN__ __UNKNOWN__ 20 55111273 55111273 __UNKNOWN__ Silent SNP C C T rs2296128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55111273C>T ENST00000371325.1 + 2 391 c.295C>T c.(295-297)Cta>Tta p.L99L NM_001013646.2 NP_001013668.2 Q5JX69 F209B_HUMAN family with sequence similarity 209, member B 99 NA integral component of membrane (GO:0016021)|nucleus (GO:0005634) NA TCGCACTCCACTAAAGAAAAA 0.398 NA C||| 549 0.109625 0.0219 0.0346 5008 , , NA 21036 0.4524 NA 0.002 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 C 109,4297 83.9+/-122.4 0,109,2094 94 95 95 295 -3.6 0 20 dbSNP_100 95 10,8590 7.1+/-27.0 0,10,4290 no coding-synonymous C20orf107 NM_001013646.2 0,119,6384 TT,TC,CC 0.1163,2.4739,0.915 99/172 55111273 119,12887 2203 4300 6503 SO:0001819 synonymous_variant AL109806 CCDS33494.1 20q13.31 2011-11-24 2011-11-24 2011-11-24 ENSG00000213714 ENSG00000213714 388799 16101 protein-coding gene gene with protein product chromosome 20 open reading frame 107 C20orf107 NA Standard NM_001013646 NA Approved dJ1153D9.4 uc002xxz.4 Q5JX69 OTTHUMG00000032800 ENST00000371325.1:c.295C>T chr20.hg19:g.55111273C>T NA Q3KRB5 hg19 CCDS33494.1 0.02 6.53679 CCAxTAA COVERED NOVEL FAM209B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079816.1 1 11.738626 KEEP 0 0 0 39 1423 CC 1 1 0 + 8 60 300 0 0 19.748768 165 60 6277 262 ENST00000371325.1 0.046243 1 FAM209B 388799 __UNKNOWN__ __UNKNOWN__ 20 55111364 55111364 __UNKNOWN__ Missense_Mutation SNP A A C rs2296129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:55111364A>C ENST00000371325.1 + 2 482 c.386A>C c.(385-387)gAa>gCa p.E129A NM_001013646.2 NP_001013668.2 Q5JX69 F209B_HUMAN family with sequence similarity 209, member B 129 NA E -> A (in dbSNP:rs2296129). integral component of membrane (GO:0016021)|nucleus (GO:0005634) NA TTTGTGTCCGAAGTGCAGAAT 0.423 NA A||| 528 0.105431 0.0061 0.0331 5008 , , NA 20202 0.4534 NA 0.002 False NA ,,, NA NA NA 2504 0.0389 NA NA NA NA 0 A ALA/GLU 37,4369 41.6+/-74.8 0,37,2166 98 97 97 386 1.2 1 20 dbSNP_100 97 10,8590 7.1+/-27.0 0,10,4290 yes missense C20orf107 NM_001013646.2 107 0,47,6456 CC,CA,AA 0.1163,0.8398,0.3614 benign 129/172 55111364 47,12959 2203 4300 6503 SO:0001583 missense AL109806 CCDS33494.1 20q13.31 2011-11-24 2011-11-24 2011-11-24 ENSG00000213714 ENSG00000213714 388799 16101 protein-coding gene gene with protein product chromosome 20 open reading frame 107 C20orf107 NA Standard NM_001013646 NA Approved dJ1153D9.4 uc002xxz.4 Q5JX69 OTTHUMG00000032800 ENST00000371325.1:c.386A>C chr20.hg19:g.55111364A>C ENSP00000360376:p.Glu129Ala NA Q3KRB5 hg19 CCDS33494.1 0.02 15.557614 CCGxAGT COVERED 266 0.12179487179487179 0 0.0 10 0.027624309392265192 255 0.4458041958041958 1 0.0013192612137203166 A 6.202 0.405366 0.11754 0.008398 0.001163 ENSG00000213714 ENST00000371325 T 0.07908 3.15 3.55 1.2 0.21068 . 0.382680 0.21732 N 0.069953 T 0.00012 0.0000 N 0.08118 0 0.58432 P 9.000000000036756E-6 B 0.06786 0.001 B 0.06405 0.002 T 0.46414 -0.9193 9 0.66056 D 0.02 -10.4598 5.2781 0.15661 0.7472:0.0:0.2528:0.0 rs2296129;rs60361515;rs2296129 129 Q5JX69 CT107_HUMAN A 129 ENSP00000360376:E129A ENSP00000360376:E129A E + 2 0 C20orf107 54544771 1.000000 0.71417 0.963000 0.40424 0.029000 0.11900 1.033000 0.30191 0.123000 0.18342 0.454000 0.30748 GAA NOVEL FAM209B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079816.1 5 13.539117 KEEP 0 0 0 45 1404 AA 1 1 0 + 17 60 667 0 0 45.829455 309 60 10933 417 ENST00000371325.1 0.052147 1 CTCFL 140690 __UNKNOWN__ __UNKNOWN__ 20 56078690 56078690 __UNKNOWN__ Intron SNP G G A rs6128059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56078690G>A ENST00000423479.3 - 10 1765 CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000371196.2_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000608440.1_Intron|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000608263.1_Intron|CTCFL_ENST00000243914.3_Intron NM_001269043.1 NP_001255972.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like NA NA cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212) NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CACACAAGGCGAGtgagatgg 0.537 NA G||| 1071 0.213858 0.0998 0.1671 5008 , , NA 17425 0.2083 NA 0.2793 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 G 504,3902 229.1+/-243.8 25,454,1724 56 52 53 -4.1 0 20 dbSNP_114 53 2570,6030 412.6+/-350.9 388,1794,2118 no intron CTCFL NM_080618.2 413,2248,3842 AA,AG,GG 29.8837,11.4389,23.6352 56078690 3074,9932 2203 4300 6503 SO:0001627 intron_variant CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1 20q13.31 2013-01-08 ENSG00000124092 ENSG00000124092 140690 Zinc fingers, C2H2-type 16234 protein-coding gene gene with protein product cancer/testis antigen 27 607022 NA Standard NM_080618 NM_001269040 NA Approved dJ579F20.2, BORIS, CT27 uc010giw.1 Q8NI51 OTTHUMG00000032829 ENST00000423479.3:c.1675-33C>T chr20.hg19:g.56078690G>A NA A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3 hg19 CCDS58780.1 0.02 2.05447 GGCxAGT COVERED NOVEL CTCFL-020 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472061.1 0 5.417145 KEEP 0 0 0 18 611 GG 0.999859 0.999778 0 - 5 60 182 0 0 12.082773 90 60 3320 133 ENST00000423479.3 0.052632 0.999919 PCK1 5105 __UNKNOWN__ __UNKNOWN__ 20 56136536 56136536 __UNKNOWN__ Silent SNP A A G rs1042521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56136536A>G ENST00000319441.4 + 2 233 c.69A>G c.(67-69)ctA>ctG p.L23L PCK1_ENST00000543666.1_5'UTR NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 23 NA carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613) endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TGGACAGCCTACCCCAGGCAG 0.567 NA G||| 1988 0.396965 0.3064 0.3761 5008 , , NA 18025 0.377 NA 0.5278 False NA ,,, NA NA NA 2504 0.4202 NA NA NA NA 0 G 1471,2935 678.0+/-403.5 221,1029,953 96 92 93 69 4.5 1 20 dbSNP_86 93 4355,4245 572.9+/-389.8 1091,2173,1036 no coding-synonymous PCK1 NM_002591.3 1312,3202,1989 GG,GA,AA 49.3605,33.3863,44.7947 23/623 56136536 5826,7180 2203 4300 6503 SO:0001819 synonymous_variant CCDS13460.1 20q13.31 2007-11-06 ENSG00000124253 ENSG00000124253 5105 4.1.1.32 8724 protein-coding gene gene with protein product 614168 NA 1492743 Standard NM_002591 NA Approved PEPCK-C uc002xyn.4 P35558 OTTHUMG00000032825 ENST00000319441.4:c.69A>G chr20.hg19:g.56136536A>G NA A8K437|B4DT64|Q8TCA3|Q9UJD2 hg19 CCDS13460.1 0.02 22.14369 CCTxCCC COVERED NOVEL PCK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079851.2 5 16.137091 KEEP 0 3 104 90 2561 AA 1 1 0 + 16 60 607 0 0 37.35708 501 60 16985 685 ENST00000319441.4 0.030948 1 PCK1 5105 __UNKNOWN__ __UNKNOWN__ 20 56140980 56140980 __UNKNOWN__ 3'UTR SNP T T G rs1042531 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56140980T>G ENST00000319441.4 + 0 2153 PCK1_ENST00000543666.1_3'UTR NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) NA NA carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613) endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CACCACACCGTGAGCAGATCT 0.423 NA T||| 2125 0.424321 0.736 0.2997 5008 , , NA 20436 0.2748 NA 0.3887 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13460.1 20q13.31 2007-11-06 ENSG00000124253 ENSG00000124253 5105 4.1.1.32 8724 protein-coding gene gene with protein product 614168 NA 1492743 Standard NM_002591 NA Approved PEPCK-C uc002xyn.4 P35558 OTTHUMG00000032825 ENST00000319441.4:c.*120T>G chr20.hg19:g.56140980T>G NA A8K437|B4DT64|Q8TCA3|Q9UJD2 hg19 CCDS13460.1 0.02 18.467666 CCGxGAG COVERED NOVEL PCK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079851.2 2 4.646524 KEEP 0 1 33 27 827 TT 0.999997 0.999997 0 + 31 60 1097 0 0 77.287098 372 60 13110 463 ENST00000319441.4 0.076923 1 ZBP1 81030 __UNKNOWN__ __UNKNOWN__ 20 56179586 56179586 __UNKNOWN__ 3'UTR SNP G G A rs6123710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56179586G>A ENST00000371173.3 - 0 1510 ZBP1_ENST00000395822.3_3'UTR|ZBP1_ENST00000340462.4_3'UTR NM_001160417.1|NM_030776.2 NP_001153889.1|NP_110403.2 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 NA NA innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723) large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CCTAGCATGCGCCCACCCCCA 0.567 NA G||| 1545 0.308506 0.0408 0.3818 5008 , , NA 18873 0.4722 NA 0.3797 False NA ,,, NA NA NA 2504 0.3763 NA NA NA NA 0 G ,, 392,4014 196.0+/-220.5 22,348,1833 60 55 57 ,, -2.4 0 20 dbSNP_114 57 3182,5418 481.4+/-370.6 574,2034,1692 no utr-3,utr-3,utr-3 ZBP1 NM_001160417.1,NM_001160418.1,NM_030776.2 ,, 596,2382,3525 AA,AG,GG 37.0,8.897,27.4796 ,, ,, 56179586 3574,9432 2203 4300 6503 SO:0001624 3_prime_UTR_variant AJ300575 CCDS13461.1, CCDS54477.1, CCDS54478.1 20q13.31 2009-08-21 2002-07-25 2002-07-26 ENSG00000124256 ENSG00000124256 81030 16176 protein-coding gene gene with protein product DNA-dependent activator of IRFs 606750 chromosome 20 open reading frame 183 C20orf183 NA 11842111 Standard NM_030776 NM_030776 NA Approved dJ718J7.3, DLM1, DLM-1, DAI uc002xyo.3 Q9H171 OTTHUMG00000032824 ENST00000371173.3:c.*43C>T chr20.hg19:g.56179586G>A NA A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4 hg19 CCDS13461.1 0.02 17.200953 TGCxCCC COVERED NOVEL ZBP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000079849.1 3 11.738869 KEEP 0 1 28 49 1621 GG 1 1 0 - 16 60 559 0 0 33.818842 418 60 14164 586 ENST00000371173.3 0.036866 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 56536970 56536970 __UNKNOWN__ IGR SNP G G T rs140350541 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56536970G>T NA NA RP13-379L11.2 (2254 upstream) : AL354984.3 (14103 downstream) NA NA NA tgtaatcccagcactttggga 0.532 NA G||| 669 0.133586 0.2269 0.2262 5008 , , NA 12396 0.0377 NA 0.1262 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.56536970G>T NA hg19 0.02 -0.078961 CCAxCAC UNCOVERED NOVEL 0 0 3.905463 KEEP 0 0 0 13 460 GG 0.994391 0.076902 0 3 60 112 0 0 10.143437 6 60 231 32 0.333333 0.077336 ANKRD60 140731 __UNKNOWN__ __UNKNOWN__ 20 56796528 56796528 __UNKNOWN__ Missense_Mutation SNP A A T rs6015225 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56796528A>T ENST00000457363.1 - 3 592 c.593T>A c.(592-594)tTc>tAc p.F198Y Q9BZ19 ANR60_HUMAN ankyrin repeat domain 60 198 NA kidney(1) 1 GGTTCGGTAGAAGGAATCTTC 0.502 NA A||| 713 0.142372 0.3328 0.0418 5008 , , NA 20884 0.2044 NA 0.005 False NA ,,, NA NA NA 2504 0.0337 NA NA NA NA 0 A TYR/PHE 382,1002 51,280,361 112 96 101 155 0.3 0 20 dbSNP_114 101 16,3166 0,16,1575 no missense ANKRD60 XM_001134442.4 22 51,296,1936 TT,TA,AA 0.5028,27.6012,8.7166 52/200 56796528 398,4168 692 1591 2283 SO:0001583 missense AL354776 20q13.32 2013-01-10 2008-03-25 2008-03-25 ENSG00000124227 ENSG00000124227 140731 Ankyrin repeat domain containing 16217 protein-coding gene gene with protein product chromosome 20 open reading frame 86 C20orf86 NA Standard XM_001134442 XM_006710087 NA Approved bA196N14.3 Q9BZ19 OTTHUMG00000032837 ENST00000457363.1:c.593T>A chr20.hg19:g.56796528A>T ENSP00000396747:p.Phe198Tyr NA Q4VXE6 hg19 0.02 4.087207 TAGxAGG COVERED 286 0.13095238095238096 156 0.3170731707317073 13 0.03591160220994475 114 0.1993006993006993 3 0.00395778364116095 A 13.78 2.340641 0.41498 0.276012 0.005028 ENSG00000124227 ENST00000457363 T 0.67345 -0.26 5.14 0.353 0.16058 . 1.293660 0.05300 N 0.522736 T 0.00012 0.0000 N 0.19112 0.55 0.80722 P 0.0 . . . . . . T 0.08806 -1.0704 7 0.33141 T 0.24 -7.3167 3.5622 0.07887 0.4804:0.0:0.3477:0.172 rs6015225;rs8122998;rs6015225 . . . Y 198 ENSP00000396747:F198Y ENSP00000396747:F198Y F - 2 0 ANKRD60 56229934 0.001000 0.12720 0.000000 0.03702 0.009000 0.06853 0.549000 0.23329 0.003000 0.14656 -0.531000 0.04308 TTC NOVEL ANKRD60-201 KNOWN basic|appris_principal protein_coding NA protein_coding 4 12.636528 KEEP 0 0 0 42 1296 AA 1 1 0 - 7 60 261 0 0 17.224782 140 60 5020 219 ENST00000457363.1 0.047619 1 ANKRD60 140731 __UNKNOWN__ __UNKNOWN__ 20 56803353 56803353 __UNKNOWN__ Silent SNP C C T rs1192514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56803353C>T ENST00000457363.1 - 1 356 c.357G>A c.(355-357)cgG>cgA p.R119R Q9BZ19 ANR60_HUMAN ankyrin repeat domain 60 119 Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}. NA kidney(1) 1 CTTTGAGCTCCCGCACGGTCA 0.652 NA C||| 1639 0.327276 0.2549 0.3746 5008 , , NA 2587 0.37 NA 0.2535 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 C 382,1002 54,274,364 27 33 31 2.5 1 20 dbSNP_87 31 881,2301 116,649,826 no intergenic 170,923,1190 TT,TC,CC 27.687,27.6012,27.661 56803353 1263,3303 692 1591 2283 SO:0001819 synonymous_variant AL354776 20q13.32 2013-01-10 2008-03-25 2008-03-25 ENSG00000124227 ENSG00000124227 140731 Ankyrin repeat domain containing 16217 protein-coding gene gene with protein product chromosome 20 open reading frame 86 C20orf86 NA Standard XM_001134442 XM_006710087 NA Approved bA196N14.3 Q9BZ19 OTTHUMG00000032837 ENST00000457363.1:c.357G>A chr20.hg19:g.56803353C>T NA Q4VXE6 hg19 0.02 8.366439 CTCxCGC COVERED 657 0.3008241758241758 133 0.2703252032520325 147 0.40607734806629836 192 0.3356643356643357 185 0.24406332453825857 C 11.29 1.594140 0.28445 0.276012 0.27687 ENSG00000124227 ENST00000371167 . . . 3.5 2.51 0.30379 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999845984 . . . . . . T 0.43909 -0.9362 3 . . . -20.2428 10.8622 0.46833 0.0:0.8076:0.1924:0.0 rs1192514;rs1759794 . . . R 115 . . G - 1 0 ANKRD60 56236759 0.370000 0.25047 0.999000 0.59377 0.942000 0.58702 0.158000 0.16422 0.752000 0.32923 0.491000 0.48974 GGA NOVEL ANKRD60-201 KNOWN basic|appris_principal protein_coding NA protein_coding 0 30.999689 KEEP 0 0 0 103 3591 CC 1 1 0 - 7 60 250 0 0 14.948913 208 60 7629 417 ENST00000457363.1 0.032558 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 56807792 56807792 __UNKNOWN__ IGR SNP C C T rs2274932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56807792C>T NA NA ANKRD60 (4083 upstream) : PPP4R1L (40 downstream) NA NA NA AGAACCCTCACGTTGGGCACA 0.562 NA C||| 715 0.142772 0.0204 0.2464 5008 , , NA 18184 0.1706 NA 0.0994 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.56807792C>T NA hg19 0.02 15.009021 TCAxGTT COVERED NOVEL 0 0 33.105194 KEEP 0 0 0 110 3801 CC 1 1 0 10 60 367 0 0 21.440216 367 60 13151 585 0.026525 1 PPP4R1L 55370 __UNKNOWN__ __UNKNOWN__ 20 56810484 56810484 __UNKNOWN__ Intron SNP C C T rs503900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56810484C>T ENST00000334187.8 - 17 2297 Q9P1A2 PP4RL_HUMAN protein phosphatase 4, regulatory subunit 1-like NA NA NA ATTTGAATTACGAATACTACT 0.363 NA T||| 2681 0.535343 0.73 0.4395 5008 , , NA 18652 0.5665 NA 0.331 False NA ,,, NA NA NA 2504 0.5184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF119843 20q13.32 2013-03-28 ENSG00000124224 ENSG00000124224 55370 15755 other unknown C20orf192 NA 14702039, 11780052 Standard NR_003505 NR_003505 NA Approved bA196N14.4, bA196N14.5 uc002xyy.1 Q9P1A2 OTTHUMG00000032838 ENST00000334187.8:c.1246-54G>A chr20.hg19:g.56810484C>T NA B4DRM4|Q96LY6|Q9BZ17|Q9BZ18 hg19 0.02 4.204192 TTAxGAA COVERED NOVEL PPP4R1L-201 KNOWN basic|appris_candidate_longest protein_coding NA protein_coding 2 5.652273 KEEP 0 1 32 30 1015 CC 0.999997 0.999997 0 - 7 60 263 0 0 17.466367 138 60 4429 193 ENST00000334187.8 0.048276 1 RAB22A 57403 __UNKNOWN__ __UNKNOWN__ 20 56938842 56938842 __UNKNOWN__ 3'UTR SNP A A C rs16981928 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:56938842A>C ENST00000244040.3 + 0 4949 NM_020673.2 NP_065724.1 Q9UL26 RB22A_HUMAN RAB22A, member RAS oncogene family NA NA endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1) 6 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) TTTTTAAATGATTCAAGGTAA 0.303 NA A||| 29 0.00579073 0.0212 0.0014 5008 , , NA 16693 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF091034 CCDS33497.1 20q13 2008-07-03 ENSG00000124209 ENSG00000124209 57403 RAB, member RAS oncogene 9764 protein-coding gene gene with protein product 612966 NA Standard NM_020673 NA Approved uc002xyz.3 Q9UL26 OTTHUMG00000032844 ENST00000244040.3:c.*4083A>C chr20.hg19:g.56938842A>C NA B3KR86|E1P605|Q8TF12|Q9H4E6 hg19 CCDS33497.1 0.02 9.383021 ATGxTTC COVERED NOVEL RAB22A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079880.2 1 12.33703 KEEP 0 0 0 41 1324 AA 1 1 0 + 8 60 311 1 0 20.113005 205 60 7500 316 ENST00000244040.3 0.037559 1 APCDD1L 164284 __UNKNOWN__ __UNKNOWN__ 20 57035491 57035491 __UNKNOWN__ 3'UTR SNP A A G rs2180482 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57035491A>G ENST00000371149.3 - 0 2091 NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like NA NA integral component of membrane (GO:0016021) large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) ACTGGGGGGAACATGGGATGG 0.552 NA G||| 1117 0.223043 0.2375 0.1311 5008 , , NA 17501 0.3244 NA 0.1302 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK074647 CCDS13467.1 20q13.32 2006-07-07 ENSG00000198768 ENSG00000198768 164284 26892 protein-coding gene gene with protein product NA Standard NM_153360 NM_153360 NA Approved FLJ90166 uc002xze.1 Q8NCL9 OTTHUMG00000032845 ENST00000371149.3:c.*355T>C chr20.hg19:g.57035491A>G NA hg19 CCDS13467.1 0.02 6.992523 GGAxCAT COVERED NOVEL APCDD1L-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000079881.2 1 9.857624 KEEP 0 1 32 44 1275 AA 1 1 0 - 8 60 277 0 0 17.338206 171 60 5832 272 ENST00000371149.3 0.044693 1 APCDD1L 164284 __UNKNOWN__ __UNKNOWN__ 20 57042377 57042377 __UNKNOWN__ Silent SNP G G A rs6128351 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57042377G>A ENST00000371149.3 - 3 756 c.526C>T c.(526-528)Ctg>Ttg p.L176L APCDD1L_ENST00000439429.1_Silent_p.L187L NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 176 NA integral component of membrane (GO:0016021) large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GCGCTCCGCAGCTCGTACAGC 0.781 NA G||| 181 0.0361422 0.0008 0.049 5008 , , NA 8501 0.1329 NA 0.0 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 2 2 2 NA NA 20 NA 57042377 1433 3021 4454 SO:0001819 synonymous_variant AK074647 CCDS13467.1 20q13.32 2006-07-07 ENSG00000198768 ENSG00000198768 164284 26892 protein-coding gene gene with protein product NA Standard NM_153360 NM_153360 NA Approved FLJ90166 uc002xze.1 Q8NCL9 OTTHUMG00000032845 ENST00000371149.3:c.526C>T chr20.hg19:g.57042377G>A NA hg19 CCDS13467.1 0.02 1.807205 GCAxCTC COVERED NOVEL APCDD1L-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000079881.2 1 12.941333 KEEP 0 0 0 43 1503 GG 1 0.999804 0 - 7 60 230 0 0 15.698526 82 60 2978 157 ENST00000371149.3 0.078652 0.999804 STX16-NPEPL1 100534593 __UNKNOWN__ __UNKNOWN__ 20 57244493 57244493 __UNKNOWN__ Silent SNP G G A rs2296524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57244493G>A ENST00000530122.1 + 5 1113 c.540G>A c.(538-540)caG>caA p.Q180Q STX16_ENST00000361830.3_Silent_p.Q180Q|STX16_ENST00000371132.4_Silent_p.Q159Q|STX16_ENST00000359617.4_Silent_p.Q127Q|STX16_ENST00000371141.4_Silent_p.Q180Q|STX16_ENST00000496003.1_Intron|STX16_ENST00000355957.5_Silent_p.Q163Q|STX16_ENST00000361770.5_Silent_p.Q163Q|STX16_ENST00000358029.4_Silent_p.Q176Q STX16-NPEPL1 readthrough (NMD candidate) NA NA NA GGCACGCACAGTCAGGCTACC 0.562 NA G||| 2376 0.474441 0.5008 0.4553 5008 , , NA 17396 0.4147 NA 0.5 False NA ,,, NA NA NA 2504 0.4877 NA NA NA NA 0 G ,,,, 2120,2260 535,1050,605 16 18 18 540,528,489,381,477 3.9 1 20 dbSNP_100 18 4561,3997 1239,2083,957 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous STX16 NM_001001433.2,NM_001134772.2,NM_001134773.2,NM_001204868.1,NM_003763.5 ,,,, 1774,3133,1562 AA,AG,GG 46.7048,48.4018,48.3614 ,,,, 180/326,176/322,163/309,127/273,159/305 57244493 6681,6257 2190 4279 6469 SO:0001819 synonymous_variant 20q13.32 2013-05-09 2013-05-09 ENSG00000254995 ENSG00000254995 100534593 41993 other readthrough NA Standard NR_037945.1 NR_037945 NA Approved OTTHUMG00000167390 ENST00000530122.1:c.540G>A chr20.hg19:g.57244493G>A NA hg19 0.02 8.255626 ACAxTCA COVERED NOVEL STX16-NPEPL1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000394467.1 5 10.143481 KEEP 0 6 189 100 3621 GG 1 1 0 + 8 60 291 0 0 17.708815 231 60 8738 454 ENST00000530122.1 0.033473 1 STX16-NPEPL1 100534593 __UNKNOWN__ __UNKNOWN__ 20 57253132 57253132 __UNKNOWN__ Intron SNP A A G rs6128397 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57253132A>G ENST00000530122.1 + 8 1446 STX16_ENST00000361830.3_3'UTR|STX16_ENST00000371132.4_3'UTR|STX16_ENST00000359617.4_3'UTR|STX16_ENST00000371141.4_3'UTR|STX16_ENST00000355957.5_3'UTR|STX16_ENST00000361770.5_3'UTR|STX16_ENST00000358029.4_3'UTR STX16-NPEPL1 readthrough (NMD candidate) NA NA NA CTTTCATCCCATCTGATTTTA 0.493 NA a||| 2701 0.539337 0.4168 0.4539 5008 , , NA 18542 0.5804 NA 0.662 False NA ,,, NA NA NA 2504 0.5971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q13.32 2013-05-09 2013-05-09 ENSG00000254995 ENSG00000254995 100534593 41993 other readthrough NA Standard NR_037945.1 NR_037945 NA Approved OTTHUMG00000167390 ENST00000530122.1:c.873+4365A>G chr20.hg19:g.57253132A>G NA hg19 0.02 8.410006 CCCxTCT COVERED NOVEL STX16-NPEPL1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000394467.1 3 8.960333 KEEP 0 1 32 41 1254 AA 1 1 0 + 7 60 256 0 0 15.618046 203 60 7511 297 ENST00000530122.1 0.033333 1 STX16-NPEPL1 100534593 __UNKNOWN__ __UNKNOWN__ 20 57253740 57253740 __UNKNOWN__ Intron SNP T T G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57253740T>G ENST00000530122.1 + 8 1446 STX16_ENST00000361830.3_3'UTR|STX16_ENST00000371132.4_3'UTR|STX16_ENST00000359617.4_3'UTR|STX16_ENST00000371141.4_3'UTR|STX16_ENST00000355957.5_3'UTR|STX16_ENST00000361770.5_3'UTR|STX16_ENST00000358029.4_3'UTR STX16-NPEPL1 readthrough (NMD candidate) NA NA NA TTTCCCAAGGTGGGAGAGACA 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q13.32 2013-05-09 2013-05-09 ENSG00000254995 ENSG00000254995 100534593 41993 other readthrough NA Standard NR_037945.1 NR_037945 NA Approved OTTHUMG00000167390 ENST00000530122.1:c.873+4973T>G chr20.hg19:g.57253740T>G NA hg19 0.02 1.496254 AGGxGGG COVERED NOVEL STX16-NPEPL1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000394467.1 5 3.541873 KEEP 0 2 11 16 460 TT 0.999859 0.999177 0 + 13 60 181 0 0 9.437303 67 60 2074 117 ENST00000530122.1 0.1625 0.999317 STX16-NPEPL1 100534593 __UNKNOWN__ __UNKNOWN__ 20 57266700 57266700 __UNKNOWN__ Intron SNP T T C rs6123822 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57266700T>C ENST00000530122.1 + 11 1798 NPEPL1_ENST00000525967.1_Intron|NPEPL1_ENST00000525817.1_Intron STX16-NPEPL1 readthrough (NMD candidate) NA NA NA GGAAAACCTCTCACACCACGC 0.458 NA C||| 2532 0.505591 0.6611 0.4568 5008 , , NA 11960 0.4157 NA 0.492 False NA ,,, NA NA NA 2504 0.4366 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q13.32 2013-05-09 2013-05-09 ENSG00000254995 ENSG00000254995 100534593 41993 other readthrough NA Standard NR_037945.1 NR_037945 NA Approved OTTHUMG00000167390 ENST00000530122.1:c.1147-80T>C chr20.hg19:g.57266700T>C NA hg19 0.02 2.250578 CTCxCAC COVERED NOVEL STX16-NPEPL1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000394467.1 4 3.977391 KEEP 0 2 68 37 1091 TT 1 0.999559 0 + 5 60 178 0 0 11.957681 79 60 2852 129 ENST00000530122.1 0.059524 0.999559 STX16-NPEPL1 100534593 __UNKNOWN__ __UNKNOWN__ 20 57266781 57266781 __UNKNOWN__ 3'UTR SNP C C T rs6128402 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57266781C>T ENST00000530122.1 + 0 1800 NPEPL1_ENST00000525967.1_5'UTR|NPEPL1_ENST00000525817.1_5'UTR STX16-NPEPL1 readthrough (NMD candidate) NA NA NA catttttAGGCTGGTTATGAA 0.388 NA C||| 1489 0.297324 0.18 0.2968 5008 , , NA 12027 0.381 NA 0.3419 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 20q13.32 2013-05-09 2013-05-09 ENSG00000254995 ENSG00000254995 100534593 41993 other readthrough NA Standard NR_037945.1 NR_037945 NA Approved OTTHUMG00000167390 ENST00000530122.1:c.*78C>T chr20.hg19:g.57266781C>T NA hg19 0.02 9.488286 AGGxTGG COVERED NOVEL STX16-NPEPL1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000394467.1 7 37.017094 KEEP 0 3 90 155 5354 CC 1 1 0 + 16 60 518 0 0 33.201579 251 60 8987 616 ENST00000530122.1 0.059925 1 STX16-NPEPL1 100534593 __UNKNOWN__ __UNKNOWN__ 20 57266913 57266913 __UNKNOWN__ Intron SNP T T C rs6123823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57266913T>C ENST00000530122.1 + 11 1855 NPEPL1_ENST00000525967.1_Intron|NPEPL1_ENST00000525817.1_Intron STX16-NPEPL1 readthrough (NMD candidate) NA NA NA TTTAAATGACTCCTGGGTGGA 0.532 NA T||| 1354 0.270367 0.09 0.2939 5008 , , NA 15216 0.38 NA 0.3419 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 20q13.32 2013-05-09 2013-05-09 ENSG00000254995 ENSG00000254995 100534593 41993 other readthrough NA Standard NR_037945.1 NR_037945 NA Approved OTTHUMG00000167390 ENST00000530122.1:c.1146+77T>C chr20.hg19:g.57266913T>C NA hg19 0.02 14.853824 GACxCCT COVERED NOVEL STX16-NPEPL1-001 KNOWN basic|appris_principal|readthrough_transcript nonsense_mediated_decay NA protein_coding OTTHUMT00000394467.1 2 36.396997 KEEP 0 1 34 133 4237 TT 1 1 0 + 12 60 438 0 0 26.204012 383 60 13739 624 ENST00000530122.1 0.03038 1 NPEPL1 79716 __UNKNOWN__ __UNKNOWN__ 20 57268867 57268867 __UNKNOWN__ Silent SNP C C A rs3746396 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57268867C>A ENST00000356091.6 + 2 513 c.225C>A c.(223-225)acC>acA p.T75T STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.T47T|NPEPL1_ENST00000525817.1_Silent_p.T27T NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 75 NA cytoplasm (GO:0005737)|nucleus (GO:0005634) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) ACTACGCCACCGTGGCTGCCC 0.672 NA C||| 1502 0.29992 0.1982 0.2983 5008 , , NA 17151 0.376 NA 0.3429 False NA ,,, NA NA NA 2504 0.316 NA NA NA NA 0 C ,, 920,3252 125,670,1291 42 50 47 141,81,225 -9.7 0.3 20 dbSNP_107 47 3298,5108 693,1912,1598 no coding-synonymous,coding-synonymous,coding-synonymous NPEPL1 NM_001204872.1,NM_001204873.1,NM_024663.3 ,, 818,2582,2889 AA,AC,CC 39.2339,22.0518,33.5347 ,, 47/496,27/476,75/524 57268867 4218,8360 2086 4203 6289 SO:0001819 synonymous_variant AK021645 CCDS46621.1, CCDS56200.1, CCDS56201.1 20q13.32 2008-07-02 ENSG00000215440 ENSG00000215440 79716 16244 protein-coding gene gene with protein product NA 14702039 Standard NM_024663 NM_001204872 NA Approved FLJ11583, bA261P9.2 uc010zzs.1 Q8NDH3 OTTHUMG00000033060 ENST00000356091.6:c.225C>A chr20.hg19:g.57268867C>A NA A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5 hg19 CCDS46621.1 0.02 13.184011 CACxGTG COVERED NOVEL NPEPL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080402.6 1 47.286295 KEEP 0 4 119 199 6906 CC 1 1 0 + 17 60 619 0 0 40.57976 330 60 11401 745 ENST00000356091.6 0.048991 1 GNAS 2778 __UNKNOWN__ __UNKNOWN__ 20 57478807 57478807 __UNKNOWN__ Silent SNP C C T rs7121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57478807C>T ENST00000371095.3 + 4 776 c.351C>T c.(349-351)atC>atT p.I117I GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Silent_p.I116I|GNAS_ENST00000371085.3_Silent_p.I131I|GNAS_ENST00000371102.4_Silent_p.I760I|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Silent_p.I774I|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Silent_p.I132I|GNAS_ENST00000306090.10_Silent_p.I117I P63092 GNAS2_HUMAN GNAS complex locus 131 NA activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588) adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGGACTACATCCTGAGTGTGA 0.557 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism, type IA TSP Lung(22;0.16) T||| 3227 0.644369 0.8139 0.6124 5008 , , NA 18620 0.6716 NA 0.4742 False NA ,,, NA NA NA 2504 0.5849 NA NA NA Colon(117;935 1597 6045 8307 46442) Dom yes 20 20q13.2 2778 guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 yes E 0 GRCh37 CM023931 GNAS M rs7121 T ,,,,,, 3298,1108 398.3+/-330.8 1234,830,139 247 224 232 393,396,348,,,2322,351 -9.2 0.2 20 dbSNP_52 232 4238,4362 582.0+/-391.3 1060,2118,1122 no coding-synonymous,coding-synonymous,coding-synonymous,utr-3,utr-3,coding-synonymous,coding-synonymous GNAS NM_000516.4,NM_001077488.2,NM_001077489.2,NM_001077490.1,NM_016592.2,NM_080425.2,NM_080426.2 ,,,,,, 2294,2948,1261 TT,TC,CC 49.2791,25.1475,42.0575 ,,,,,, 131/395,132/396,116/380,,,774/1038,117/381 57478807 7536,5470 2203 4300 6503 SO:0001819 synonymous_variant M21142 CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1 20q13.2-q13.3 2010-03-01 2001-12-19 2001-12-20 ENSG00000087460 ENSG00000087460 2778 4392 protein-coding gene gene with protein product secretogranin VI 139320 guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 GNAS1 NA Standard NM_000516 NM_000516 NA Approved NESP55, NESP, GNASXL, GPSA, SCG6 uc002xzw.3 O95467 OTTHUMG00000033069 ENST00000371095.3:c.351C>T chr20.hg19:g.57478807C>T NA A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70 hg19 CCDS46624.1 0.02 6.433764 CATxCTG COVERED 1341 0.614010989010989 407 0.8272357723577236 227 0.6270718232044199 366 0.6398601398601399 341 0.449868073878628 T 10.08 1.252619 0.22880 0.748525 0.492791 ENSG00000087460 ENST00000450130 . . . 5.81 -9.18 0.00688 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999101873 . . . . . . T 0.04400 -1.0954 3 . . . . 21.0308 0.99944 0.0914:0.759:0.0:0.1496 rs7121;rs1053389;rs3171206;rs3730167;rs17829840;rs61041002;rs7121 . . . S 146 . . P + 1 0 GNAS 56912202 0.382000 0.25148 0.173000 0.22940 0.924000 0.55760 -0.313000 0.08103 -2.651000 0.00424 -1.760000 0.00671 CCT NOVEL GNAS-017 KNOWN non_canonical_TEC|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080433.1 2 20.70083 KEEP 0 1 29 79 2774 CC 1 1 0 + 7 60 255 0 0 16.301708 156 60 5817 310 ENST00000371095.3 0.042945 1 NELFCD 51497 __UNKNOWN__ __UNKNOWN__ 20 57569816 57569816 __UNKNOWN__ 3'UTR SNP G G T rs7341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57569816G>T ENST00000602795.1 + 0 1933 NELFCD_ENST00000344018.3_3'UTR|NELFCD_ENST00000479207.1_3'UTR NM_198976.2 NP_945327.2 Q8IXH7 NELFD_HUMAN negative elongation factor complex member C/D NA NA gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654) NA TAAGAGGCTCGGGCAGCGTCT 0.468 NA G||| 2071 0.413538 0.152 0.4308 5008 , , NA 16594 0.626 NA 0.4622 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 G 271,1113 34,203,455 59 49 52 -5.6 0 20 dbSNP_52 52 1498,1684 357,784,450 no utr-3 TH1L NM_198976.1 391,987,905 TT,TG,GG 47.0773,19.5809,38.7429 57569816 1769,2797 692 1591 2283 SO:0001624 3_prime_UTR_variant AF161479 CCDS13473.1, CCDS13473.2 20q13 2013-01-31 2013-01-31 2013-01-31 ENSG00000101158 ENSG00000101158 51497 15934 protein-coding gene gene with protein product trihydrophobin 1 605297 TH1-like (Drosophila homolog), TH1-like (Drosophila) TH1L NA 11030415, 11042152 Standard NM_198976 NM_198976 NA Approved HSPC130, TH1, NELF-C, NELF-D uc002yag.4 Q8IXH7 OTTHUMG00000032861 ENST00000602795.1:c.*85G>T chr20.hg19:g.57569816G>T NA B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3 hg19 CCDS13473.2 0.02 21.828308 CTCxGGC COVERED NOVEL NELFCD-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000079909.3 4 24.313125 KEEP 0 1 32 92 3204 GG 1 1 0 + 18 60 676 0 0 42.246622 501 60 17715 757 ENST00000602795.1 0.034682 1 NELFCD 51497 __UNKNOWN__ __UNKNOWN__ 20 57569860 57569860 __UNKNOWN__ 3'UTR SNP C C G rs1043219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57569860C>G ENST00000602795.1 + 0 1977 NELFCD_ENST00000344018.3_3'UTR|NELFCD_ENST00000479207.1_3'UTR NM_198976.2 NP_945327.2 Q8IXH7 NELFD_HUMAN negative elongation factor complex member C/D NA NA gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032) membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654) NA AGGTGGATGACTTCTTTACAA 0.468 NA C||| 536 0.107029 0.0106 0.17 5008 , , NA 16250 0.1389 NA 0.1183 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF161479 CCDS13473.1, CCDS13473.2 20q13 2013-01-31 2013-01-31 2013-01-31 ENSG00000101158 ENSG00000101158 51497 15934 protein-coding gene gene with protein product trihydrophobin 1 605297 TH1-like (Drosophila homolog), TH1-like (Drosophila) TH1L NA 11030415, 11042152 Standard NM_198976 NM_198976 NA Approved HSPC130, TH1, NELF-C, NELF-D uc002yag.4 Q8IXH7 OTTHUMG00000032861 ENST00000602795.1:c.*129C>G chr20.hg19:g.57569860C>G NA B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3 hg19 CCDS13473.2 0.02 17.760885 TGAxTTC COVERED NOVEL NELFCD-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000079909.3 3 21.36732 KEEP 0 0 0 71 2498 CC 1 1 0 + 19 60 678 0 0 43.758152 384 60 14165 507 ENST00000602795.1 0.047146 1 ZNF831 128611 __UNKNOWN__ __UNKNOWN__ 20 57768657 57768657 __UNKNOWN__ Silent SNP T T C rs41276962 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57768657T>C ENST00000371030.2 + 1 2583 c.2583T>C c.(2581-2583)gaT>gaC p.D861D NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 861 NA metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGGATGCCGATCCCGGGGAGG 0.647 NA .||| 609 0.121605 0.0242 0.1844 5008 , , NA 13877 0.2728 NA 0.0686 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 T 126,3806 2,122,1842 32 39 37 2583 -4.9 0 20 dbSNP_127 37 561,7739 20,521,3609 no coding-synonymous ZNF831 NM_178457.1 22,643,5451 CC,CT,TT 6.759,3.2045,5.6164 861/1678 57768657 687,11545 1966 4150 6116 SO:0001819 synonymous_variant AL121919 CCDS42894.1 20q13.32 2008-10-20 2008-03-25 2008-03-25 ENSG00000124203 ENSG00000124203 128611 16167 protein-coding gene gene with protein product chromosome 20 open reading frame 174 C20orf174 NA Standard NM_178457 NM_178457 NA Approved dJ492J12.1 uc002yan.3 Q5JPB2 OTTHUMG00000032864 ENST00000371030.2:c.2583T>C chr20.hg19:g.57768657T>C NA Q5TDR4|Q8TCP0 hg19 CCDS42894.1 0.02 6.389126 CGAxCCC COVERED NOVEL ZNF831-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000079916.2 0 7.820124 KEEP 0 0 0 26 775 TT 0.999957 0.999957 0 + 6 60 217 0 0 12.990896 185 60 6392 262 ENST00000371030.2 0.031414 1 ZNF831 128611 __UNKNOWN__ __UNKNOWN__ 20 57768743 57768743 __UNKNOWN__ Missense_Mutation SNP C C T rs56057707 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:57768743C>T ENST00000371030.2 + 1 2669 c.2669C>T c.(2668-2670)gCt>gTt p.A890V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 890 NA metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TTGGCTGCTGCTTCTGTTGCC 0.677 NA .||| 881 0.175919 0.0802 0.2378 5008 , , NA 14502 0.2728 NA 0.1899 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 C VAL/ALA 332,3604 16,300,1652 26 29 28 2669 2.8 0 20 dbSNP_129 28 1543,6783 139,1265,2759 yes missense ZNF831 NM_178457.1 64 155,1565,4411 TT,TC,CC 18.5323,8.435,15.2911 benign 890/1678 57768743 1875,10387 1968 4163 6131 SO:0001583 missense AL121919 CCDS42894.1 20q13.32 2008-10-20 2008-03-25 2008-03-25 ENSG00000124203 ENSG00000124203 128611 16167 protein-coding gene gene with protein product chromosome 20 open reading frame 174 C20orf174 NA Standard NM_178457 NM_178457 NA Approved dJ492J12.1 uc002yan.3 Q5JPB2 OTTHUMG00000032864 ENST00000371030.2:c.2669C>T chr20.hg19:g.57768743C>T ENSP00000360069:p.Ala890Val NA Q5TDR4|Q8TCP0 hg19 CCDS42894.1 0.02 8.549261 CTGxTTC COVERED 397 0.18177655677655677 42 0.08536585365853659 78 0.2154696132596685 120 0.2097902097902098 157 0.20712401055408972 C 7.450 0.642402 0.14451 0.08435 0.185323 ENSG00000124203 ENST00000371030 T 0.04654 3.58 3.75 2.79 0.32731 . 1.781660 0.02972 N 0.144512 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.10296 0.003 B 0.06405 0.002 T 0.45963 -0.9225 9 0.02654 T 1 12.0247 11.476 0.50297 0.1814:0.8186:0.0:0.0 rs56057707;rs61742491 890 Q5JPB2 ZN831_HUMAN V 890 ENSP00000360069:A890V ENSP00000360069:A890V A + 2 0 ZNF831 57202138 0.000000 0.05858 0.000000 0.03702 0.017000 0.09413 -0.376000 0.07465 0.210000 0.20664 -0.808000 0.03180 GCT NOVEL ZNF831-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000079916.2 4 8.426798 KEEP 0 0 0 28 1017 CC 0.999997 0.999997 0 + 7 60 252 0 0 15.121787 210 60 7847 294 ENST00000371030.2 0.032258 1 C20orf197 284756 __UNKNOWN__ __UNKNOWN__ 20 58644995 58644995 __UNKNOWN__ 5'UTR SNP T T C rs6071100 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:58644995T>C ENST00000313426.1 + 0 272 NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 NA NA large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) GAGGCTCTTCTGGGGCCAGCC 0.542 NA C||| 2516 0.502396 0.7247 0.3963 5008 , , NA 18132 0.3839 NA 0.5706 False NA ,,, NA NA NA 2504 0.3292 NA NA NA NA 0 C 3092,1314 439.0+/-345.5 1069,954,180 32 32 32 -2.1 0 20 dbSNP_114 32 4894,3706 521.6+/-379.9 1369,2156,775 no utr-5 C20orf197 NM_173644.1 2438,3110,955 CC,CT,TT 43.093,29.823,38.5976 58644995 7986,5020 2203 4300 6503 SO:0001623 5_prime_UTR_variant AK091179 CCDS13487.1 20q13.33 2006-07-07 ENSG00000176659 ENSG00000176659 284756 26601 protein-coding gene gene with protein product NA 12975309 Standard NM_173644 NM_173644 NA Approved FLJ33860 uc002ybj.1 Q8N268 OTTHUMG00000032880 ENST00000313426.1:c.-35T>C chr20.hg19:g.58644995T>C NA Q08EQ0 hg19 CCDS13487.1 0.02 5.408499 TTCxGGG COVERED NOVEL C20orf197-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079944.1 1 7.218905 KEEP 0 0 0 24 704 TT 0.999909 0.999909 0 + 9 60 304 0 0 18.991864 180 60 6586 221 ENST00000313426.1 0.047619 1 C20orf197 284756 __UNKNOWN__ __UNKNOWN__ 20 58647131 58647131 __UNKNOWN__ 3'UTR SNP T T A rs1475028 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:58647131T>A ENST00000313426.1 + 0 1855 NM_173644.1 NP_775915.1 Q8N268 CT197_HUMAN chromosome 20 open reading frame 197 NA NA large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(7;2.33e-09) ttatgattacttaaatattct 0.323 NA A||| 1938 0.386981 0.4493 0.3329 5008 , , NA 19756 0.2748 NA 0.5676 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091179 CCDS13487.1 20q13.33 2006-07-07 ENSG00000176659 ENSG00000176659 284756 26601 protein-coding gene gene with protein product NA 12975309 Standard NM_173644 NM_173644 NA Approved FLJ33860 uc002ybj.1 Q8N268 OTTHUMG00000032880 ENST00000313426.1:c.*1168T>A chr20.hg19:g.58647131T>A NA Q08EQ0 hg19 CCDS13487.1 0.02 10.753364 TACxTAA COVERED NOVEL C20orf197-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079944.1 3 2.943124 KEEP 0 1 32 21 663 TT 0.999879 0.999879 0 + 10 60 363 0 0 22.491079 261 60 9572 309 ENST00000313426.1 0.0369 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 20 59000975 59000975 __UNKNOWN__ IGR SNP G G T rs6128813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:59000975G>T NA NA RP5-1043L13.1 (103661 upstream) : MIR4533 (52193 downstream) NA NA NA TTATTTAATGGGATCCTATGA 0.338 NA g||| 878 0.175319 0.1558 0.2291 5008 , , NA 17952 0.2133 NA 0.2018 False NA ,,, NA NA NA 2504 0.0971 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr20.hg19:g.59000975G>T NA hg19 0.02 10.748103 ATGxGAT COVERED NOVEL 0 3 6.320165 KEEP 0 0 0 21 730 GG 0.999869 0.999869 0 9 60 334 0 0 20.364782 275 60 9910 342 0.03169 1 RP11-429E11.3 0 __UNKNOWN__ __UNKNOWN__ 20 60293669 60293669 __UNKNOWN__ 3'UTR SNP G G A rs944267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60293669G>A ENST00000317652.1 - 0 892 CDH4_ENST00000543233.1_Intron|CDH4_ENST00000360469.5_Intron NA NA NA GGGGCTACCCGACTGGGTGTC 0.557 NA G||| 712 0.142173 0.0477 0.2291 5008 , , NA 20121 0.3363 NA 0.0596 False NA ,,, NA NA NA 2504 0.093 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant NA NA NA NA ENST00000317652.1:c.*135C>T chr20.hg19:g.60293669G>A NA hg19 0.02 19.045747 CCCxACT COVERED NOVEL RP11-429E11.3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000079962.1 5 14.778293 KEEP 0 1 28 59 1983 GG 1 1 0 - 13 60 473 1 0 27.664653 460 60 16376 656 ENST00000317652.1 0.027484 1 RP11-429E11.3 0 __UNKNOWN__ __UNKNOWN__ 20 60294279 60294279 __UNKNOWN__ 5'UTR SNP A A G rs4925275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60294279A>G ENST00000317652.1 - 0 282 CDH4_ENST00000543233.1_Intron|CDH4_ENST00000360469.5_Intron NA NA NA GTTTTTGTTCATTGCTAATAC 0.403 NA A||| 1922 0.383786 0.3638 0.4625 5008 , , NA 15792 0.5724 NA 0.2078 False NA ,,, NA NA NA 2504 0.3415 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000317652.1:c.-53T>C chr20.hg19:g.60294279A>G NA hg19 0.02 6.335982 TTCxTTG COVERED NOVEL RP11-429E11.3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000079962.1 4 4.50029 KEEP 0 0 0 15 421 AA 0.99649 0.99649 0 - 11 60 374 0 0 24.316488 183 70 6253 234 ENST00000317652.1 0.056701 1 RP11-429E11.3 0 __UNKNOWN__ __UNKNOWN__ 20 60294296 60294296 __UNKNOWN__ 5'UTR SNP G G A rs4925196 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60294296G>A ENST00000317652.1 - 0 265 CDH4_ENST00000543233.1_Intron|CDH4_ENST00000360469.5_Intron NA NA NA ATACAGAGAAGGATGCAAGCC 0.423 NA G||| 624 0.124601 0.0151 0.2262 5008 , , NA 15567 0.3393 NA 0.0547 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant NA NA NA NA ENST00000317652.1:c.-70C>T chr20.hg19:g.60294296G>A NA hg19 0.02 6.755084 GAAxGAT COVERED NOVEL RP11-429E11.3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000079962.1 4 4.81551 KEEP 0 0 0 16 554 GG 0.997832 0.997832 0 - 8 60 302 0 0 20.013497 162 70 5778 205 ENST00000317652.1 0.047059 1 CDH4 1002 __UNKNOWN__ __UNKNOWN__ 20 60427738 60427738 __UNKNOWN__ Intron SNP G G A rs555442410 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60427738G>A ENST00000360469.5 + 6 820 CDH4_ENST00000543233.1_Intron NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) NA NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCAGCACCGCGGGTCCCAGGC 0.637 NA G||| 3 0.000599042 0.0 0.0 5008 , , NA 14365 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L34059 CCDS13488.1, CCDS58784.1 20q13.3 2010-01-26 ENSG00000179242 ENSG00000179242 1002 Cadherins / Major cadherins 1763 protein-coding gene gene with protein product R-Cadherin 603006 NA 10191097, 10516427 Standard NM_001794 NM_001794 NA Approved uc002ybn.2 P55283 OTTHUMG00000032890 ENST00000360469.5:c.733-72G>A chr20.hg19:g.60427738G>A NA B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05 hg19 CCDS13488.1 0.02 2.221636 CGCxGGT COVERED NOVEL CDH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079965.2 0 2.40749 KEEP 0 0 0 8 259 GG 0.99257 0.991275 0 + 5 60 190 0 0 13.38279 71 60 2184 87 ENST00000360469.5 0.065789 0.998696 CDH4 1002 __UNKNOWN__ __UNKNOWN__ 20 60511860 60511860 __UNKNOWN__ Silent SNP C C T rs3761221 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60511860C>T ENST00000360469.5 + 16 2698 c.2610C>T c.(2608-2610)taC>taT p.Y870Y CDH4_ENST00000543233.1_Silent_p.Y796Y NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 870 NA adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TCTTCGACTACGAGGGGAGCG 0.627 NA C||| 442 0.0882588 0.0076 0.0173 5008 , , NA 12621 0.256 NA 0.0328 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 C 43,4361 46.7+/-81.2 1,41,2160 46 45 45 2610 -6.7 0.6 20 dbSNP_107 45 285,8313 106.6+/-167.4 4,277,4018 no coding-synonymous CDH4 NM_001794.2 5,318,6178 TT,TC,CC 3.3147,0.9764,2.5227 870/917 60511860 328,12674 2202 4299 6501 SO:0001819 synonymous_variant L34059 CCDS13488.1, CCDS58784.1 20q13.3 2010-01-26 ENSG00000179242 ENSG00000179242 1002 Cadherins / Major cadherins 1763 protein-coding gene gene with protein product R-Cadherin 603006 NA 10191097, 10516427 Standard NM_001794 NM_001794 NA Approved uc002ybn.2 P55283 OTTHUMG00000032890 ENST00000360469.5:c.2610C>T chr20.hg19:g.60511860C>T NA B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05 hg19 CCDS13488.1 0.02 10.677934 CTAxGAG COVERED NOVEL CDH4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079965.2 0 19.19532 KEEP 0 1 29 74 2529 CC 1 1 0 + 10 60 370 0 0 23.441554 246 60 8923 403 ENST00000360469.5 0.039062 1 TAF4 6874 __UNKNOWN__ __UNKNOWN__ 20 60575830 60575830 __UNKNOWN__ Intron SNP G G A rs2281733 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60575830G>A ENST00000252996.4 - 10 2486 NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCATCGGGAGGTGGGCTGGGG 0.552 NA G||| 861 0.171925 0.0068 0.1124 5008 , , NA 16888 0.4544 NA 0.0994 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y11354 CCDS33500.1 20q13.33 2010-02-26 2002-08-29 2002-01-18 ENSG00000130699 ENSG00000130699 6874 11537 protein-coding gene gene with protein product 601796 TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD TAF4A, TAF2C1, TAF2C NA 8942982, 9192867 Standard NM_003185 NM_003185 NA Approved TAFII130, TAFII135 uc002ybs.3 O00268 OTTHUMG00000032893 ENST00000252996.4:c.2487-53C>T chr20.hg19:g.60575830G>A NA A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42 hg19 CCDS33500.1 0.02 2.027354 GAGxTGG COVERED NOVEL TAF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079968.2 0 2.688384 KEEP 0 0 0 9 282 GG 0.99254 0.985519 0 - 8 60 264 0 0 19.769616 56 60 1978 74 ENST00000252996.4 0.125 0.992926 TAF4 6874 __UNKNOWN__ __UNKNOWN__ 20 60584072 60584072 __UNKNOWN__ Intron SNP T T G rs2296086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60584072T>G ENST00000252996.4 - 5 1884 NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GCAACAGGCTTTAGGGGAAAG 0.542 NA T||| 942 0.188099 0.0545 0.1297 5008 , , NA 16748 0.4544 NA 0.1163 False NA ,,, NA NA NA 2504 0.2096 NA NA NA NA 0 T 336,4070 175.9+/-205.1 9,318,1876 107 114 111 -3 0 20 dbSNP_100 111 921,7679 204.0+/-246.8 59,803,3438 no intron TAF4 NM_003185.3 68,1121,5314 GG,GT,TT 10.7093,7.626,9.6648 60584072 1257,11749 2203 4300 6503 SO:0001627 intron_variant Y11354 CCDS33500.1 20q13.33 2010-02-26 2002-08-29 2002-01-18 ENSG00000130699 ENSG00000130699 6874 11537 protein-coding gene gene with protein product 601796 TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD TAF4A, TAF2C1, TAF2C NA 8942982, 9192867 Standard NM_003185 NM_003185 NA Approved TAFII130, TAFII135 uc002ybs.3 O00268 OTTHUMG00000032893 ENST00000252996.4:c.1884+35A>C chr20.hg19:g.60584072T>G NA A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42 hg19 CCDS33500.1 0.02 9.399297 GCTxTAG COVERED NOVEL TAF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079968.2 0 18.049397 KEEP 0 0 0 60 1822 TT 1 1 0 - 11 60 420 0 0 28.490702 200 60 7207 332 ENST00000252996.4 0.052133 1 TAF4 6874 __UNKNOWN__ __UNKNOWN__ 20 60587836 60587836 __UNKNOWN__ Intron SNP T T G rs3818344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60587836T>G ENST00000252996.4 - 3 1641 TAF4_ENST00000609045.1_Intron NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TCGTGGCCCCTGCAGCCTCAA 0.547 NA T||| 855 0.170727 0.0166 0.1138 5008 , , NA 15193 0.4534 NA 0.1024 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 T 145,4261 100.7+/-139.4 1,143,2059 60 69 66 1.2 0 20 dbSNP_107 66 809,7791 186.3+/-233.8 50,709,3541 no intron TAF4 NM_003185.3 51,852,5600 GG,GT,TT 9.407,3.291,7.3351 60587836 954,12052 2203 4300 6503 SO:0001627 intron_variant Y11354 CCDS33500.1 20q13.33 2010-02-26 2002-08-29 2002-01-18 ENSG00000130699 ENSG00000130699 6874 11537 protein-coding gene gene with protein product 601796 TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD TAF4A, TAF2C1, TAF2C NA 8942982, 9192867 Standard NM_003185 NM_003185 NA Approved TAFII130, TAFII135 uc002ybs.3 O00268 OTTHUMG00000032893 ENST00000252996.4:c.1641+34A>C chr20.hg19:g.60587836T>G NA A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42 hg19 CCDS33500.1 0.02 -0.271852 CCCxGCA COVERED NOVEL TAF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079968.2 0 5.717211 KEEP 0 0 0 19 588 TT 0.99986 0.717215 0 - 3 60 98 0 0 6.953197 28 60 982 55 ENST00000252996.4 0.096774 0.717315 TAF4 6874 __UNKNOWN__ __UNKNOWN__ 20 60588049 60588049 __UNKNOWN__ Intron SNP G G C rs2273991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60588049G>C ENST00000252996.4 - 3 1521 NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa NA NA DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032) cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CCCACCCCCAGGTACACAGAA 0.448 NA G||| 915 0.182708 0.0605 0.1153 5008 , , NA 3734 0.4544 NA 0.1024 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y11354 CCDS33500.1 20q13.33 2010-02-26 2002-08-29 2002-01-18 ENSG00000130699 ENSG00000130699 6874 11537 protein-coding gene gene with protein product 601796 TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD TAF4A, TAF2C1, TAF2C NA 8942982, 9192867 Standard NM_003185 NM_003185 NA Approved TAFII130, TAFII135 uc002ybs.3 O00268 OTTHUMG00000032893 ENST00000252996.4:c.1522-59C>G chr20.hg19:g.60588049G>C NA A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42 hg19 CCDS33500.1 0.02 10.932592 CCAxGTA COVERED NOVEL TAF4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079968.2 1 25.581417 KEEP 0 0 0 85 2978 GG 1 1 0 - 16 60 539 0 0 35.393849 247 60 9381 433 ENST00000252996.4 0.060837 1 LSM14B 149986 __UNKNOWN__ __UNKNOWN__ 20 60704940 60704940 __UNKNOWN__ Missense_Mutation SNP C C A rs200803813 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60704940C>A ENST00000279068.6 + 4 687 c.527C>A c.(526-528)cCt>cAt p.P176H LSM14B_ENST00000253001.4_Intron NM_144703.2 NP_653304.2 Q9BX40 LS14B_HUMAN LSM14B, SCD6 homolog B (S. cerevisiae) 176 NA multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417) ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) endometrium(3)|kidney(1)|lung(4) 8 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) AAGCTGTTACCTGGCAAGGGC 0.572 NA C||| 15 0.00299521 0.0 0.0 5008 , , NA 14536 0.0129 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 C HIS/PRO 2,4078 0,2,2038 38 41 40 527 5.6 0.8 20 40 0,8384 0,0,4192 yes missense LSM14B NM_144703.2 77 0,2,6230 AA,AC,CC 0.0,0.049,0.016 possibly-damaging 176/386 60704940 2,12462 2040 4192 6232 SO:0001583 missense AF172328 CCDS46626.1 20q13.33 2010-01-27 2006-12-21 2006-01-24 ENSG00000149657 ENSG00000149657 149986 15887 protein-coding gene gene with protein product chromosome 20 open reading frame 40, family with sequence similarity 61, member B, LSM14 homolog B (SCD6, S. cerevisiae) C20orf40, FAM61B NA Standard NM_144703 NM_144703 NA Approved FT005, bA11M20.3, FLJ25473, LSM13, RAP55B uc010gjy.1 Q9BX40 OTTHUMG00000032901 ENST00000279068.6:c.527C>A chr20.hg19:g.60704940C>A ENSP00000279068:p.Pro176His NA Q6PFW8|Q96LH8 hg19 CCDS46626.1 0.02 9.069933 TACxTGG COVERED 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 18.09 3.546350 0.65198 4.9E-4 0.0 ENSG00000149657 ENST00000279068;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670 T;T;T 0.49139 0.84;0.79;0.83 5.59 5.59 0.84812 . . . . . T 0.64505 0.2604 M 0.62723 1.935 0.54753 D 0.999985 P;D;P;D 0.89917 0.944;1.0;0.901;0.974 P;D;B;P 0.68192 0.541;0.956;0.366;0.789 T 0.64618 -0.6365 9 0.52906 T 0.07 . 14.4413 0.67321 0.1472:0.8528:0.0:0.0 . 96;132;176;202 E9PG81;C9J454;Q9BX40;Q5TBQ0 .;.;LS14B_HUMAN;. H 176;132;202;176;132;96 ENSP00000279068:P176H;ENSP00000383172:P202H;ENSP00000355209:P96H ENSP00000279068:P176H P + 2 0 LSM14B 60138335 0.984000 0.35163 0.849000 0.33467 0.859000 0.49053 3.632000 0.54287 2.629000 0.89072 0.555000 0.69702 CCT NOVEL LSM14B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079996.4 4 22.572335 KEEP 0 0 0 75 2669 CC 1 1 0 + 13 60 483 0 0 33.530281 190 60 7297 359 ENST00000279068.6 0.064039 1 MTG2 26164 __UNKNOWN__ __UNKNOWN__ 20 60768497 60768497 __UNKNOWN__ Silent SNP C C T rs2236527 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60768497C>T ENST00000370823.3 + 2 39 c.21C>T c.(19-21)ttC>ttT p.F7F MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.F7F NM_015666.3 NP_056481.1 Q9H4K7 MTG2_HUMAN mitochondrial ribosome-associated GTPase 2 7 NA GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287) NA CAAGGTGTTTCTCAGCAAGAT 0.547 NA C||| 1094 0.21845 0.174 0.1282 5008 , , NA 20152 0.4881 NA 0.1173 False NA ,,, NA NA NA 2504 0.1687 NA NA NA NA 0 C 591,3815 262.8+/-265.1 36,519,1648 101 103 102 21 4.1 0 20 dbSNP_98 102 1032,7568 219.1+/-257.3 64,904,3332 no coding-synonymous GTPBP5 NM_015666.3 100,1423,4980 TT,TC,CC 12.0,13.4135,12.4789 7/407 60768497 1623,11383 2203 4300 6503 SO:0001819 synonymous_variant AK001603 CCDS13492.1 20q13.33 2013-05-24 2013-05-24 2013-05-24 ENSG00000101181 ENSG00000101181 26164 16239 protein-coding gene gene with protein product 610919 GTP-binding protein 5 (putative), GTP binding protein 5 (putative) GTPBP5 NA 17054726, 23396448 Standard NM_015666 NM_015666 NA Approved FLJ10741, dJ1005F21.2, ObgH1 Q9H4K7 OTTHUMG00000032897 ENST00000370823.3:c.21C>T chr20.hg19:g.60768497C>T NA A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4 hg19 CCDS13492.1 0.02 25.580705 TTTxTCA COVERED NOVEL MTG2-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000079989.1 5 31.301213 KEEP 0 0 0 104 3668 CC 1 1 0 + 22 60 804 0 0 49.222519 625 60 23769 884 ENST00000370823.3 0.034003 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60885428 60885428 __UNKNOWN__ Intron SNP C C A rs41310032 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60885428C>A ENST00000252999.3 - 76 10667 NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 NA NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CCTCCTGGAGCCCCCTGCCCT 0.662 NA C||| 690 0.13778 0.0492 0.1801 5008 , , NA 13901 0.1806 NA 0.2068 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 290,4020 9,272,1874 11 14 13 -1.3 0 20 dbSNP_127 13 1584,6892 147,1290,2801 no intron LAMA5 NM_005560.3 156,1562,4675 AA,AC,CC 18.6881,6.7285,14.6567 60885428 1874,10912 2155 4238 6393 SO:0001627 intron_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.10600+46G>T chr20.hg19:g.60885428C>A NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 6.060287 GAGxCCC COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 2 10.799118 KEEP 0 0 0 36 1213 CC 0.999999 0.999999 0 - 11 60 361 0 0 23.685145 171 60 6307 275 ENST00000252999.3 0.06044 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60895697 60895697 __UNKNOWN__ Missense_Mutation SNP C C T rs2297587 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60895697C>T ENST00000252999.3 - 50 6743 c.6677G>A c.(6676-6678)cGc>cAc p.R2226H NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2226 Domain II and I. NA R -> H (in dbSNP:rs2297587). angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CGTCTCATGGCGGGGGCCCAG 0.706 NA .||| 935 0.186701 0.152 0.219 5008 , , NA 13119 0.1855 NA 0.2376 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 HIS/ARG 888,3386 124,640,1373 10 14 13 6677 -0.2 0 20 dbSNP_100 13 1876,6580 239,1398,2591 yes missense LAMA5 NM_005560.3 29 363,2038,3964 TT,TC,CC 22.1854,20.7768,21.7125 benign 2226/3696 60895697 2764,9966 2137 4228 6365 SO:0001583 missense AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.6677G>A chr20.hg19:g.60895697C>T ENSP00000252999:p.Arg2226His NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 4.388988 TGGxGGG COVERED 428 0.19597069597069597 80 0.16260162601626016 78 0.2154696132596685 101 0.17657342657342656 169 0.22295514511873352 - 12.18 1.859616 0.32884 0.207768 0.221854 ENSG00000130702 ENST00000252999 T 0.10005 2.92 4.23 -0.196 0.13232 Laminin I (1); 0.716055 0.13292 N 0.398926 T 0.00012 0.0000 L 0.29908 0.895 0.53688 P 2.8999999999945736E-5 B 0.18310 0.027 B 0.10450 0.005 T 0.47235 -0.9133 9 0.15952 T 0.53 . 5.2616 0.15576 0.0:0.5371:0.1381:0.3247 rs2297587;rs57072194;rs2297587 2226 O15230 LAMA5_HUMAN H 2226 ENSP00000252999:R2226H ENSP00000252999:R2226H R - 2 0 LAMA5 60329092 0.003000 0.15002 0.009000 0.14445 0.014000 0.08584 -0.041000 0.12084 -0.080000 0.12685 -0.330000 0.08379 CGC NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 0 18.358739 KEEP 0 0 0 61 2111 CC 1 0.999999 0 - 9 60 329 0 0 23.220275 114 60 4134 244 ENST00000252999.3 0.073171 0.999999 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60897488 60897488 __UNKNOWN__ Silent SNP G G A rs2274933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60897488G>A ENST00000252999.3 - 47 6249 c.6183C>T c.(6181-6183)ttC>ttT p.F2061F NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2061 Laminin EGF-like 20. {ECO:0000255|PROSITE-ProRule:PRU00460}. NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CGCAGCCATCGAAACCAAAAT 0.677 NA .||| 848 0.169329 0.1059 0.2061 5008 , , NA 11140 0.1885 NA 0.2187 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 A 539,3757 30,479,1639 9 11 11 6183 -4.8 0.1 20 dbSNP_100 11 1731,6767 193,1345,2711 no coding-synonymous LAMA5 NM_005560.3 223,1824,4350 AA,AG,GG 20.3695,12.5466,17.7427 2061/3696 60897488 2270,10524 2148 4249 6397 SO:0001819 synonymous_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.6183C>T chr20.hg19:g.60897488G>A NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 4.452377 ATCxAAA COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 2 23.17349 KEEP 0 0 0 77 2672 GG 1 1 0 - 8 60 298 0 0 20.652336 119 60 4406 260 ENST00000252999.3 0.062992 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60899182 60899182 __UNKNOWN__ Missense_Mutation SNP C C T rs11698080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60899182C>T ENST00000252999.3 - 43 5788 c.5722G>A c.(5722-5724)Gcc>Acc p.A1908T NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1908 Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}. NA A -> T (in dbSNP:rs11698080). angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) ACACAGGGGGCGCTGGGGTCG 0.672 NA .||| 1077 0.215056 0.2458 0.2363 5008 , , NA 15727 0.1895 NA 0.2406 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 C THR/ALA 1186,3188 159,868,1160 21 24 23 5722 0 0.2 20 dbSNP_120 23 1879,6663 206,1467,2598 yes missense LAMA5 NM_005560.3 58 365,2335,3758 TT,TC,CC 21.9972,27.1148,23.7303 benign 1908/3696 60899182 3065,9851 2187 4271 6458 SO:0001583 missense AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.5722G>A chr20.hg19:g.60899182C>T ENSP00000252999:p.Ala1908Thr NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 4.069573 GGGxGCT COVERED 487 0.222985347985348 131 0.266260162601626 83 0.2292817679558011 104 0.18181818181818182 169 0.22295514511873352 C 9.488 1.099832 0.20552 0.271148 0.219972 ENSG00000130702 ENST00000252999 T 0.61392 0.11 4.05 0.0403 0.14208 EGF-like, laminin (4); 0.386612 0.25625 U 0.029398 T 0.00012 0.0000 L 0.33137 0.985 0.46874 P 7.700000000000484E-4 B 0.24576 0.106 B 0.13407 0.009 T 0.23619 -1.0183 9 0.19590 T 0.45 . 8.6324 0.33928 0.287:0.6297:0.0:0.0834 rs11698080;rs11698080 1908 O15230 LAMA5_HUMAN T 1908 ENSP00000252999:A1908T ENSP00000252999:A1908T A - 1 0 LAMA5 60332577 0.019000 0.18553 0.211000 0.23655 0.031000 0.12232 1.445000 0.35079 0.150000 0.19136 -0.350000 0.07774 GCC NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 2 7.520748 KEEP 0 0 0 25 841 CC 0.999931 0.999928 0 - 6 60 205 0 0 13.166711 108 60 3721 164 ENST00000252999.3 0.052632 0.999997 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60903419 60903419 __UNKNOWN__ Silent SNP C C T rs7262393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60903419C>T ENST00000252999.3 - 35 4596 c.4530G>A c.(4528-4530)ctG>ctA p.L1510L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1510 Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}. NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GCTGGCACAGCAGGCAGTCGG 0.682 NA C||| 924 0.184505 0.2458 0.1542 5008 , , NA 15666 0.1062 NA 0.2306 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 C 1187,3181 154,879,1151 20 21 21 4530 0.2 0 20 dbSNP_116 21 1850,6724 196,1458,2633 no coding-synonymous LAMA5 NM_005560.3 350,2337,3784 TT,TC,CC 21.5769,27.1749,23.4662 1510/3696 60903419 3037,9905 2184 4287 6471 SO:0001819 synonymous_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.4530G>A chr20.hg19:g.60903419C>T NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 7.965349 CAGxAGG COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 0 14.882502 KEEP 0 1 30 60 2162 CC 1 1 0 - 11 60 392 0 0 25.126763 226 60 8445 379 ENST00000252999.3 0.046414 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60912117 60912117 __UNKNOWN__ Intron SNP C C T rs3810550 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60912117C>T ENST00000252999.3 - 17 2231 NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 NA NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GTGTGACACACGTCTGAACAA 0.572 NA C||| 951 0.189896 0.2201 0.1369 5008 , , NA 24607 0.2044 NA 0.2087 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.2165-275G>A chr20.hg19:g.60912117C>T NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 8.536404 ACAxGTC COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 2 5.851008 KEEP 0 1 33 31 992 CC 0.999997 0.999997 0 - 17 60 593 0 0 41.963872 189 60 6069 243 ENST00000252999.3 0.082524 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60913127 60913127 __UNKNOWN__ Silent SNP A A G rs8124907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60913127A>G ENST00000252999.3 - 14 1902 c.1836T>C c.(1834-1836)gcT>gcC p.A612A NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 612 Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}. NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) AATGAGGTCCAGCAAACTCAG 0.652 NA G||| 1177 0.235024 0.3427 0.1686 5008 , , NA 19473 0.2054 NA 0.2455 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 G 1436,2966 650.5+/-399.1 230,976,995 38 37 37 1836 -10.1 0 20 dbSNP_116 37 1971,6617 699.9+/-405.1 236,1499,2559 no coding-synonymous LAMA5 NM_005560.3 466,2475,3554 GG,GA,AA 22.9506,32.6215,26.2279 612/3696 60913127 3407,9583 2201 4294 6495 SO:0001819 synonymous_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.1836T>C chr20.hg19:g.60913127A>G NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 13.056271 TCCxGCA COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 2 19.894635 KEEP 0 1 31 77 2445 AA 1 1 0 - 11 60 385 0 0 23.037847 305 60 11405 506 ENST00000252999.3 0.03481 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60920700 60920700 __UNKNOWN__ Intron SNP T T C rs6143035 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60920700T>C ENST00000252999.3 - 11 1544 LAMA5_ENST00000370677.3_Intron|LAMA5_ENST00000370692.3_Intron NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 NA NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGCTTTATGCTGACCTATATT 0.378 NA C||| 1186 0.236821 0.3517 0.1657 5008 , , NA 18648 0.2004 NA 0.2495 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.1477+173A>G chr20.hg19:g.60920700T>C NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 4.734271 TGCxGAC COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 0 4.347223 KEEP 0 1 33 26 816 TT 0.999988 0.999987 0 - 6 60 218 0 0 14.10904 124 60 4702 197 ENST00000252999.3 0.046154 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60921721 60921721 __UNKNOWN__ Intron SNP C C A rs6143036 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60921721C>A ENST00000252999.3 - 8 1258 LAMA5_ENST00000370677.3_Intron|LAMA5_ENST00000370692.3_Intron NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 NA NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) CATTCCCAGCCCTCTAGCCCA 0.672 NA C||| 989 0.197484 0.2088 0.1556 5008 , , NA 15789 0.2004 NA 0.2485 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 C 988,3414 355.4+/-313.0 114,760,1327 58 64 62 1.3 0 20 dbSNP_114 62 2031,6563 344.9+/-325.5 246,1539,2512 no intron LAMA5 NM_005560.3 360,2299,3839 AA,AC,CC 23.6328,22.4443,23.2302 60921721 3019,9977 2201 4297 6498 SO:0001627 intron_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.1191+16G>T chr20.hg19:g.60921721C>A NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 12.776444 AGCxCTC COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 0 12.910772 KEEP 0 2 66 66 2339 CC 1 1 0 - 9 60 333 1 0 19.485713 337 60 12454 533 ENST00000252999.3 0.026012 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60927431 60927431 __UNKNOWN__ Intron SNP G G A rs2427295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60927431G>A ENST00000252999.3 - 4 635 LAMA5_ENST00000370677.3_Intron|LAMA5_ENST00000370692.3_Intron NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 NA NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGGGAATGGCGGGAGGGGAGG 0.697 NA g||| 1014 0.202476 0.2088 0.1599 5008 , , NA 11804 0.2054 NA 0.2634 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 978,3410 117,744,1333 31 30 31 -4 0 20 dbSNP_100 31 2163,6415 282,1599,2408 no intron LAMA5 NM_005560.3 399,2343,3741 AA,AG,GG 25.2157,22.2881,24.2249 60927431 3141,9825 2194 4289 6483 SO:0001627 intron_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.569-15C>T chr20.hg19:g.60927431G>A NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 11.217266 GGCxGGA COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 0 20.43464 KEEP 0 2 60 89 3085 GG 1 1 0 - 16 60 586 0 0 39.844111 255 60 9156 493 ENST00000252999.3 0.059041 1 LAMA5 3911 __UNKNOWN__ __UNKNOWN__ 20 60927475 60927475 __UNKNOWN__ Intron SNP G G A rs2427296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60927475G>A ENST00000252999.3 - 4 635 LAMA5_ENST00000370677.3_Intron|LAMA5_ENST00000370692.3_Intron NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 NA NA angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446) basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634) integrin binding (GO:0005178)|structural molecule activity (GO:0005198) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGGTCCCCGCGGTGCCCGGGC 0.692 NA a||| 1058 0.211262 0.2398 0.1614 5008 , , NA 11471 0.2063 NA 0.2644 False NA ,,, NA NA NA 2504 0.1585 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF443072 CCDS33502.1 20q13.2-q13.3 2013-03-01 ENSG00000130702 ENSG00000130702 3911 Laminins 6485 protein-coding gene gene with protein product 601033 NA 9271224 Standard NM_005560 NM_005560 NA Approved uc002ycq.3 O15230 OTTHUMG00000032908 ENST00000252999.3:c.569-59C>T chr20.hg19:g.60927475G>A NA Q8TDF8|Q8WZA7|Q9H1P1 hg19 CCDS33502.1 0.02 6.403061 CGCxGTG COVERED NOVEL LAMA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080014.2 0 11.069388 KEEP 0 1 29 47 1602 GG 1 1 0 - 11 60 373 0 0 25.363208 144 60 5020 265 ENST00000252999.3 0.070968 1 CABLES2 81928 __UNKNOWN__ __UNKNOWN__ 20 60968596 60968596 __UNKNOWN__ Silent SNP A A G rs1570027 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60968596A>G ENST00000279101.5 - 6 788 c.780T>C c.(778-780)caT>caC p.H260H NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 260 NA cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302) cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538) endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GCAGCAGGCCATGGCTGTCAC 0.592 NA A||| 1014 0.202476 0.2035 0.2666 5008 , , NA 19142 0.1498 NA 0.2336 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 A 1036,3370 381.6+/-324.1 114,808,1281 119 117 117 780 -6.5 0.1 20 dbSNP_88 117 1917,6683 338.5+/-322.8 228,1461,2611 no coding-synonymous CABLES2 NM_031215.2 342,2269,3892 GG,GA,AA 22.2907,23.5134,22.7049 260/479 60968596 2953,10053 2203 4300 6503 SO:0001819 synonymous_variant BC003122 CCDS33503.1 20q13.33 2004-01-09 2004-01-09 2004-01-09 ENSG00000149679 ENSG00000149679 81928 16143 protein-coding gene gene with protein product chromosome 20 open reading frame 150 C20orf150 NA 12477932 Standard XM_037265 NM_031215 NA Approved dJ908M14.2, ik3-2 uc002ycv.2 Q9BTV7 OTTHUMG00000032912 ENST00000279101.5:c.780T>C chr20.hg19:g.60968596A>G NA Q5JWL0|Q9BYK0 hg19 CCDS33503.1 0.02 14.191944 GCCxTGG COVERED 436 0.19963369963369965 104 0.21138211382113822 102 0.281767955801105 64 0.11188811188811189 166 0.21899736147757257 A 0.144 -1.099321 0.01843 0.235134 0.222907 ENSG00000149679 ENST00000453274 . . . 5.15 -6.47 0.01902 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.999999999946489E-6 . . . . . . T 0.12192 -1.0557 3 . . . -24.4711 14.808 0.69971 0.4038:0.0:0.5962:0.0 rs1570027;rs1570027 . . . T 54 . . M - 2 0 CABLES2 60401991 0.000000 0.05858 0.058000 0.19502 0.035000 0.12851 -1.013000 0.03645 -1.179000 0.02737 -0.468000 0.05107 ATG NOVEL CABLES2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080027.2 5 17.448991 KEEP 0 0 0 58 1765 AA 1 1 0 - 10 60 361 0 0 20.945429 358 60 12834 524 ENST00000279101.5 0.027174 1 RBBP8NL 140893 __UNKNOWN__ __UNKNOWN__ 20 60987912 60987912 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60987912C>T ENST00000252998.1 - 12 1876 c.1720G>A c.(1720-1722)Gat>Aat p.D574N NM_080833.2 NP_543023.2 Q8NC74 RB8NL_HUMAN RBBP8 N-terminal like 574 NA extracellular space (GO:0005615) NA TCTGTCTCATCCAGTTCGTCG 0.652 NA NA NA NA NA NA NA NA NA NA NA 0 133 109 117 NA NA 20 NA 60987912 2203 4300 6503 SO:0001583 missense AL121832 CCDS13498.1 20q13.33 2012-10-30 2012-10-30 2012-10-30 ENSG00000130701 ENSG00000130701 140893 16144 protein-coding gene gene with protein product hypothetical protein LOC140893 chromosome 20 open reading frame 151 C20orf151 NA 11780052 Standard NM_080833 NM_080833 NA Approved dJ908M14.3 uc002ycw.2 Q8NC74 OTTHUMG00000032913 ENST00000252998.1:c.1720G>A chr20.hg19:g.60987912C>T ENSP00000252998:p.Asp574Asn NA B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9 hg19 CCDS13498.1 0.02 19.548915 CATxCAG COVERED . . . . . . . . . . C 13.41 2.230193 0.39399 . . ENSG00000130701 ENST00000252998 T 0.20598 2.06 2.79 1.84 0.25277 . 1.246980 0.05861 N 0.623032 T 0.22244 0.0536 L 0.38175 1.15 0.09310 N 1 D 0.58620 0.983 P 0.47864 0.559 T 0.26189 -1.0110 10 0.19147 T 0.46 -0.5835 9.9067 0.41381 0.0:0.7904:0.2096:0.0 . 574 Q8NC74 CT151_HUMAN N 574 ENSP00000252998:D574N ENSP00000252998:D574N D - 1 0 C20orf151 60421307 0.012000 0.17670 0.001000 0.08648 0.005000 0.04900 1.941000 0.40233 0.760000 0.33108 -0.465000 0.05216 GAT NOVEL RBBP8NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080029.1 4 22.271717 KEEP 0 0 0 74 2577 CC 1 1 0 - 14 60 516 0 0 31.063706 447 60 16452 654 ENST00000252998.1 0.030369 1 RBBP8NL 140893 __UNKNOWN__ __UNKNOWN__ 20 60990231 60990231 __UNKNOWN__ Missense_Mutation SNP G G C rs560779290 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:60990231G>C ENST00000252998.1 - 9 896 c.740C>G c.(739-741)cCc>cGc p.P247R NM_080833.2 NP_543023.2 Q8NC74 RB8NL_HUMAN RBBP8 N-terminal like 247 NA extracellular space (GO:0005615) NA GCTCCTGGCGGGCAGTGGTGG 0.701 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 13140 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001583 missense AL121832 CCDS13498.1 20q13.33 2012-10-30 2012-10-30 2012-10-30 ENSG00000130701 ENSG00000130701 140893 16144 protein-coding gene gene with protein product hypothetical protein LOC140893 chromosome 20 open reading frame 151 C20orf151 NA 11780052 Standard NM_080833 NM_080833 NA Approved dJ908M14.3 uc002ycw.2 Q8NC74 OTTHUMG00000032913 ENST00000252998.1:c.740C>G chr20.hg19:g.60990231G>C ENSP00000252998:p.Pro247Arg NA B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9 hg19 CCDS13498.1 0.02 1.819265 GCGxGCA COVERED . . . . . . . . . . G 11.44 1.639020 0.29157 . . ENSG00000130701 ENST00000252998 T 0.19532 2.14 4.1 2.04 0.26737 . 0.642916 0.16113 N 0.228976 T 0.16557 0.0398 L 0.43923 1.385 0.09310 N 1 P 0.42039 0.769 B 0.38803 0.282 T 0.08700 -1.0709 10 0.51188 T 0.08 -4.4615 7.5319 0.27687 0.2162:0.0:0.7838:0.0 . 247 Q8NC74 CT151_HUMAN R 247 ENSP00000252998:P247R ENSP00000252998:P247R P - 2 0 C20orf151 60423626 0.001000 0.12720 0.000000 0.03702 0.001000 0.01503 0.397000 0.20883 0.265000 0.21872 -0.254000 0.11334 CCC NOVEL RBBP8NL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080029.1 1 6.620814 KEEP 0 0 0 22 752 GG 0.999879 0.999835 0 - 6 60 206 0 0 13.723838 90 60 3325 143 ENST00000252998.1 0.0625 0.999956 SLCO4A1 28231 __UNKNOWN__ __UNKNOWN__ 20 61292625 61292625 __UNKNOWN__ Intron SNP G G A rs112272922 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61292625G>A ENST00000370507.1 + 4 1217 SLCO4A1_ENST00000217159.1_Intron Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 NA NA sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) transporter activity (GO:0005215) endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583) TCATGATGGGGACGCAGCCCC 0.612 NA g||| 184 0.0367412 0.0045 0.0317 5008 , , NA 10071 0.0813 NA 0.0537 False NA ,,, NA NA NA 2504 0.0204 NA NA NA Pancreas(168;741 2006 10379 40139 45334) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB031051 CCDS13501.1 20q13.1 2013-05-22 2003-11-25 2003-11-26 ENSG00000101187 ENSG00000101187 28231 Solute carriers 10953 protein-coding gene gene with protein product 612436 solute carrier family 21 (organic anion transporter), member 12 SLC21A12 NA 10873595 Standard NM_016354 NM_016354 NA Approved OATP-E, OATP4A1 uc002ydb.1 Q96BD0 OTTHUMG00000032923 ENST00000370507.1:c.1121+98G>A chr20.hg19:g.61292625G>A NA Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7 hg19 CCDS13501.1 0.02 3.371023 GGGxACG COVERED NOVEL SLCO4A1-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080048.2 1 9.630392 KEEP 0 0 0 32 1063 GG 0.999997 0.999997 0 + 5 60 169 0 0 9.790568 144 60 5237 193 ENST00000370507.1 0.033557 1 OGFR 11054 __UNKNOWN__ __UNKNOWN__ 20 61443687 61443687 __UNKNOWN__ Silent SNP G G A rs6122311 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61443687G>A ENST00000290291.6 + 7 745 c.720G>A c.(718-720)acG>acA p.T240T OGFR_ENST00000370461.1_Silent_p.T188T NM_007346.2 NP_031372.2 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 240 NA T -> S (in Ref. 2; AAD03745/AAD03737). {ECO:0000305}. opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) opioid receptor activity (GO:0004985) endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) TGGAGGAGACGCTGGTGCGGC 0.677 NA G||| 600 0.119808 0.0045 0.1225 5008 , , NA 13597 0.2778 NA 0.0338 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 G 63,4191 0,63,2064 15 14 14 720 -1.8 1 20 dbSNP_114 14 339,8063 7,325,3869 no coding-synonymous OGFR NM_007346.2 7,388,5933 AA,AG,GG 4.0348,1.481,3.1764 240/678 61443687 402,12254 2127 4201 6328 SO:0001819 synonymous_variant AF109134 CCDS13504.1 20q13.3 2008-05-02 ENSG00000060491 ENSG00000060491 11054 15768 protein-coding gene gene with protein product 606459 NA 10677613 Standard NM_007346 NA Approved 7-60 uc002ydj.3 Q9NZT2 OTTHUMG00000032937 ENST00000290291.6:c.720G>A chr20.hg19:g.61443687G>A NA O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4 hg19 CCDS13504.1 0.02 4.45614 GACxCTG COVERED NOVEL OGFR-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080067.1 0 15.049034 KEEP 0 0 0 50 1772 GG 1 0.999984 0 + 5 60 183 0 0 11.963284 100 60 3586 179 ENST00000290291.6 0.047619 0.999984 COL9A3 1299 __UNKNOWN__ __UNKNOWN__ 20 61455666 61455666 __UNKNOWN__ Intron SNP A A G rs2746258|rs386816083|rs71335505 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61455666A>G ENST00000343916.3 + 11 522 NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TCCTGTCACCATGAGGAGTGG 0.697 NA g||| 1679 0.335264 0.5885 0.2795 5008 , , NA 14701 0.1111 NA 0.3221 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK075240 CCDS13505.1 20q13.3 2013-01-16 ENSG00000092758 ENSG00000092758 1299 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2219 protein-coding gene gene with protein product collagen type IX proteoglycan 120270 NA 8586434, 1429648 Standard NM_001853 NM_001853 NA Approved IDD, MED, EDM3, FLJ90759, DJ885L7.4.1 uc002ydm.3 Q14050 OTTHUMG00000032938 ENST00000343916.3:c.520-131A>G chr20.hg19:g.61455666A>G NA Q13681|Q9H4G9|Q9UPE2 hg19 CCDS13505.1 0.02 -0.271946 ACCxTGA COVERED NOVEL COL9A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080071.2 1 5.715258 KEEP 0 0 0 19 566 AA 0.99986 0.717215 0 + 3 60 97 0 0 6.8528 28 60 1019 58 ENST00000343916.3 0.096774 0.717315 COL9A3 1299 __UNKNOWN__ __UNKNOWN__ 20 61457670 61457670 __UNKNOWN__ Intron SNP C C T rs11699142 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61457670C>T ENST00000343916.3 + 14 741 NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TTGTCTGCACCTCCAGACTTC 0.697 NA C||| 532 0.10623 0.093 0.1124 5008 , , NA 14520 0.0665 NA 0.1133 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 6 9 8 NA NA 20 NA 61457670 677 1575 2252 SO:0001627 intron_variant AK075240 CCDS13505.1 20q13.3 2013-01-16 ENSG00000092758 ENSG00000092758 1299 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2219 protein-coding gene gene with protein product collagen type IX proteoglycan 120270 NA 8586434, 1429648 Standard NM_001853 NM_001853 NA Approved IDD, MED, EDM3, FLJ90759, DJ885L7.4.1 uc002ydm.3 Q14050 OTTHUMG00000032938 ENST00000343916.3:c.738+61C>T chr20.hg19:g.61457670C>T NA Q13681|Q9H4G9|Q9UPE2 hg19 CCDS13505.1 0.02 2.08256 CACxTCC COVERED NOVEL COL9A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080071.2 0 5.71868 KEEP 0 0 0 19 674 CC 0.99986 0.996093 0 + 4 60 144 0 0 9.678407 65 60 2449 108 ENST00000343916.3 0.057971 0.996233 COL9A3 1299 __UNKNOWN__ __UNKNOWN__ 20 61460053 61460053 __UNKNOWN__ Intron SNP A A G rs2249897 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61460053A>G ENST00000343916.3 + 18 903 NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) CCCCCAGGGCAGGACTGTAGA 0.642 NA G||| 1690 0.33746 0.587 0.2939 5008 , , NA 17432 0.1171 NA 0.331 False NA ,,, NA NA NA 2504 0.2648 NA NA NA NA 0 G 729,655 193,343,156 16 19 18 -3.7 0 20 dbSNP_100 18 1146,2034 207,732,651 no intron COL9A3 NM_001853.3 400,1075,807 GG,GA,AA 36.0377,47.3266,41.0824 61460053 1875,2689 692 1590 2282 SO:0001627 intron_variant AK075240 CCDS13505.1 20q13.3 2013-01-16 ENSG00000092758 ENSG00000092758 1299 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2219 protein-coding gene gene with protein product collagen type IX proteoglycan 120270 NA 8586434, 1429648 Standard NM_001853 NM_001853 NA Approved IDD, MED, EDM3, FLJ90759, DJ885L7.4.1 uc002ydm.3 Q14050 OTTHUMG00000032938 ENST00000343916.3:c.901-63A>G chr20.hg19:g.61460053A>G NA Q13681|Q9H4G9|Q9UPE2 hg19 CCDS13505.1 0.02 1.604781 GGCxGGA COVERED NOVEL COL9A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080071.2 0 2.372118 KEEP 0 0 0 8 213 AA 0.99257 0.99157 0 + 4 60 129 0 0 7.966131 74 60 2643 95 ENST00000343916.3 0.051282 0.998993 COL9A3 1299 __UNKNOWN__ __UNKNOWN__ 20 61460107 61460107 __UNKNOWN__ Intron SNP T T C rs74506912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61460107T>C ENST00000343916.3 + 18 903 NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 NA NA axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584) collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent conferring tensile strength (GO:0030020) breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) ACTCATCCCTTGTCCCCAGGG 0.662 NA T||| 170 0.0339457 0.0 0.0216 5008 , , NA 19152 0.1528 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T 11,4393 17.9+/-39.9 0,11,2191 43 40 41 -1.3 0 20 dbSNP_132 41 0,8598 0,0,4299 no intron COL9A3 NM_001853.3 0,11,6490 CC,CT,TT 0.0,0.2498,0.0846 61460107 11,12991 2202 4299 6501 SO:0001627 intron_variant AK075240 CCDS13505.1 20q13.3 2013-01-16 ENSG00000092758 ENSG00000092758 1299 Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens 2219 protein-coding gene gene with protein product collagen type IX proteoglycan 120270 NA 8586434, 1429648 Standard NM_001853 NM_001853 NA Approved IDD, MED, EDM3, FLJ90759, DJ885L7.4.1 uc002ydm.3 Q14050 OTTHUMG00000032938 ENST00000343916.3:c.901-9T>C chr20.hg19:g.61460107T>C NA Q13681|Q9H4G9|Q9UPE2 hg19 CCDS13505.1 0.02 6.542424 CCTxGTC COVERED NOVEL COL9A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080071.2 0 6.617089 KEEP 0 0 0 22 641 TT 0.999879 0.999879 0 + 12 60 411 0 0 28.298568 149 60 5336 215 ENST00000343916.3 0.074534 1 SLC17A9 63910 __UNKNOWN__ __UNKNOWN__ 20 61584683 61584683 __UNKNOWN__ Intron SNP C C T rs2277770 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61584683C>T ENST00000370351.4 + 1 190 SLC17A9_ENST00000488738.1_Intron|SLC17A9_ENST00000370349.3_Intron NM_022082.3 NP_071365 Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 NA NA exocytosis (GO:0006887)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021) transporter activity (GO:0005215) endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CCTGCCACCACGTGCCAGCTG 0.687 NA C||| 922 0.184105 0.0893 0.1758 5008 , , NA 14416 0.2837 NA 0.1819 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK027065 CCDS42901.1 20q13.33 2013-07-18 2013-07-18 2009-01-22 ENSG00000101194 ENSG00000101194 63910 Solute carriers 16192 protein-coding gene gene with protein product 612107 chromosome 20 open reading frame 59, solute carrier family 17, member 9 C20orf59 NA 18375752 Standard NM_022082 NM_022082 NA Approved FLJ23412, VNUT uc002yea.4 Q9BYT1 OTTHUMG00000032951 ENST00000370351.4:c.59+442C>T chr20.hg19:g.61584683C>T NA B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2 hg19 CCDS42901.1 0.02 1.854456 CCAxGTG COVERED NOVEL SLC17A9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080100.1 1 12.338044 KEEP 0 0 0 41 1352 CC 1 0.999919 0 + 4 60 147 0 0 9.409022 91 60 2996 142 ENST00000370351.4 0.042105 0.999919 RP11-305P22.9 0 __UNKNOWN__ __UNKNOWN__ 20 61660524 61660524 __UNKNOWN__ lincRNA SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61660524G>C ENST00000607802.1 + 0 91 NR_033370.1 NA NA NA GGGCCTCCGCGCCTCCGTGTG 0.796 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000607802.1: chr20.hg19:g.61660524G>C NA hg19 0.02 -0.052639 CGCxCCT UNCOVERED NOVEL RP11-305P22.9-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000470475.1 0 3.246626 KEEP 20 0 0 11 324 GG 0.99257 0.036492 0 + 3 50 107 0 0 10.325024 3 18 116 47 ENST00000607802.1 0.5 0.036766 BIRC7 79444 __UNKNOWN__ __UNKNOWN__ 20 61869826 61869826 __UNKNOWN__ Silent SNP C C T rs2273487 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61869826C>T ENST00000217169.3 + 3 742 c.528C>T c.(526-528)tcC>tcT p.S176S BIRC7_ENST00000342412.6_Silent_p.S176S|BIRC7_ENST00000395306.1_Silent_p.S89S NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 176 NA activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) TGCTGGGCTCCTGGGTGAGCG 0.622 NA C||| 2228 0.444888 0.3638 0.4798 5008 , , NA 17002 0.4931 NA 0.4404 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 C , 1666,2738 501.2+/-364.9 313,1040,849 57 61 59 528,528 3.6 1 20 dbSNP_100 59 3982,4618 549.6+/-385.6 952,2078,1270 no coding-synonymous,coding-synonymous BIRC7 NM_022161.2,NM_139317.1 , 1265,3118,2119 TT,TC,CC 46.3023,37.8292,43.4328 , 176/281,176/299 61869826 5648,7356 2202 4300 6502 SO:0001819 synonymous_variant AF301009 CCDS13512.1, CCDS13513.1 20q13.3 2011-01-25 2011-01-25 ENSG00000101197 ENSG00000101197 79444 Baculoviral IAP repeat containing, RING-type (C3HC4) zinc fingers 13702 protein-coding gene gene with protein product melanoma inhibitor of apoptosis protein, kidney inhibitor of apoptosis protein, livin inhibitor-of-apoptosis, livin 605737 baculoviral IAP repeat-containing 7 NA 11024045, 11162435 Standard NM_139317 NM_139317 NA Approved mliap, ML-IAP, KIAP, RNF50 uc002yej.3 Q96CA5 OTTHUMG00000032957 ENST00000217169.3:c.528C>T chr20.hg19:g.61869826C>T NA Q9BQV0|Q9H2A8|Q9HAP7 hg19 CCDS13513.1 0.02 12.935976 CTCxTGG COVERED NOVEL BIRC7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080114.2 1 11.43699 KEEP 0 0 0 38 1360 CC 1 1 0 + 11 60 410 0 0 25.153435 330 60 12433 468 ENST00000217169.3 0.032258 1 BIRC7 79444 __UNKNOWN__ __UNKNOWN__ 20 61870167 61870167 __UNKNOWN__ Intron SNP C C A rs744591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61870167C>A ENST00000217169.3 + 4 791 MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000342412.6_Intron|BIRC7_ENST00000395306.1_Intron NM_139317.1 NP_647478.1 Q96CA5 BIRC7_HUMAN baculoviral IAP repeat containing 7 NA NA activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) CCCCCAGTGCCAGGCCCCATT 0.672 NA C||| 2251 0.449481 0.3812 0.4813 5008 , , NA 14204 0.4921 NA 0.4404 False NA ,,, NA NA NA 2504 0.4847 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF301009 CCDS13512.1, CCDS13513.1 20q13.3 2011-01-25 2011-01-25 ENSG00000101197 ENSG00000101197 79444 Baculoviral IAP repeat containing, RING-type (C3HC4) zinc fingers 13702 protein-coding gene gene with protein product melanoma inhibitor of apoptosis protein, kidney inhibitor of apoptosis protein, livin inhibitor-of-apoptosis, livin 605737 baculoviral IAP repeat-containing 7 NA 11024045, 11162435 Standard NM_139317 NM_139317 NA Approved mliap, ML-IAP, KIAP, RNF50 uc002yej.3 Q96CA5 OTTHUMG00000032957 ENST00000217169.3:c.577+201C>A chr20.hg19:g.61870167C>A NA Q9BQV0|Q9H2A8|Q9HAP7 hg19 CCDS13513.1 0.02 16.395666 TGCxAGG COVERED NOVEL BIRC7-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000080114.2 2 7.524573 KEEP 0 0 0 25 896 CC 0.999931 0.999931 0 + 14 60 470 0 0 27.270921 409 60 15026 546 ENST00000217169.3 0.033097 1 NKAIN4 128414 __UNKNOWN__ __UNKNOWN__ 20 61873080 61873080 __UNKNOWN__ Intron SNP T T A rs1047819 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61873080T>A ENST00000370316.3 - 7 707 NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000466885.1_Intron|NKAIN4_ENST00000370307.2_Intron NM_152864.3 NP_690603.3 Q8IVV8 NKAI4_HUMAN Na+/K+ transporting ATPase interacting 4 NA NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(2)|lung(1)|ovary(1) 4 all_cancers(38;2.72e-09) TTTGCTGACATCTCAGTGGGG 0.647 NA T||| 1538 0.307109 0.0991 0.3818 5008 , , NA 14993 0.4762 NA 0.337 False NA ,,, NA NA NA 2504 0.3303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC041812 CCDS13514.1 20q13.33 2007-10-04 2007-10-04 2007-10-04 ENSG00000101198 ENSG00000101198 128414 Na+/K+ transporting ATPase interacting 16191 protein-coding gene gene with protein product 612873 chromosome 20 open reading frame 58 C20orf58 NA 17606467 Standard NM_152864 NM_152864 NA Approved bA261N11.2, FAM77A uc002yek.3 Q8IVV8 OTTHUMG00000032959 ENST00000370316.3:c.618-222A>T chr20.hg19:g.61873080T>A NA Q4VXQ6|Q9BQU8|Q9BQU9 hg19 CCDS13514.1 0.02 6.162596 ACAxCTC COVERED NOVEL NKAIN4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080117.3 0 4.814132 KEEP 0 0 0 16 511 TT 0.997832 0.997832 0 - 9 60 317 0 0 20.18596 185 60 6592 233 ENST00000370316.3 0.046392 1 COL20A1 57642 __UNKNOWN__ __UNKNOWN__ 20 61959642 61959642 __UNKNOWN__ Intron SNP G G A rs2273494 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:61959642G>A ENST00000422202.1 + 33 3720 COL20A1_ENST00000358894.6_Intron|COL20A1_ENST00000326996.6_Intron|COL20A1_ENST00000435874.1_Intron Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 NA NA extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576) NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TCGCATCCCCGGGTCCCCACT 0.657 NA G||| 1317 0.262979 0.1762 0.33 5008 , , NA 18558 0.4187 NA 0.2147 False NA ,,, NA NA NA 2504 0.2219 NA NA NA NA 0 G 712,3392 67,578,1407 26 30 28 -1.8 0 20 dbSNP_100 28 1614,6760 159,1296,2732 no intron COL20A1 NM_020882.2 226,1874,4139 AA,AG,GG 19.2739,17.3489,18.6408 61959642 2326,10152 2052 4187 6239 SO:0001627 intron_variant BC043183 CCDS46628.1 20q13.33 2014-02-12 ENSG00000101203 ENSG00000101203 57642 Collagens, Fibronectin type III domain containing 14670 protein-coding gene gene with protein product NA 10819331 Standard NM_020882 NM_020882 NA Approved KIAA1510 uc011aau.2 Q9P218 OTTHUMG00000032964 ENST00000422202.1:c.3653-41G>A chr20.hg19:g.61959642G>A NA Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7 hg19 0.02 14.39857 CCCxGGT COVERED NOVEL COL20A1-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000080130.4 2 5.718527 KEEP 0 3 91 51 1712 GG 1 1 0 + 15 60 518 0 0 33.101779 295 60 9903 455 ENST00000422202.1 0.048387 1 SRMS 6725 __UNKNOWN__ __UNKNOWN__ 20 62172219 62172219 __UNKNOWN__ Silent SNP G G A rs6122130 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62172219G>A ENST00000217188.1 - 8 1459 c.1419C>T c.(1417-1419)ttC>ttT p.F473F NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 473 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA peptidyl-tyrosine autophosphorylation (GO:0038083) cytoplasm (GO:0005737) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GCAGCGTGGCGAAGGAGGGCC 0.706 NA G||| 1852 0.369808 0.0144 0.4784 5008 , , NA 16735 0.9613 NA 0.2157 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 G 250,4154 141.9+/-177.2 6,238,1958 96 88 91 1419 0.6 0 20 dbSNP_114 91 1891,6709 335.0+/-321.2 213,1465,2622 no coding-synonymous SRMS NM_080823.2 219,1703,4580 AA,AG,GG 21.9884,5.6767,16.4642 473/489 62172219 2141,10863 2202 4300 6502 SO:0001819 synonymous_variant CCDS13525.1 20q13.33 2013-02-14 2003-08-22 ENSG00000125508 ENSG00000125508 6725 SH2 domain containing 11298 protein-coding gene gene with protein product chromosome 20 open reading frame 148 C20orf148 NA 7935409 Standard NM_080823 NM_080823 NA Approved SRM, dJ697K14.1 uc002yfi.1 Q9H3Y6 OTTHUMG00000032977 ENST00000217188.1:c.1419C>T chr20.hg19:g.62172219G>A NA hg19 CCDS13525.1 0.02 8.197784 GGCxAAG COVERED NOVEL SRMS-001 KNOWN mRNA_end_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080148.1 2 24.376834 KEEP 0 0 0 81 2776 GG 1 1 0 - 14 60 498 0 0 33.778291 209 60 7363 396 ENST00000217188.1 0.06278 1 SRMS 6725 __UNKNOWN__ __UNKNOWN__ 20 62173562 62173562 __UNKNOWN__ Silent SNP G G T rs56130722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62173562G>T ENST00000217188.1 - 5 940 c.900C>A c.(898-900)atC>atA p.I300I NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 300 Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}. NA peptidyl-tyrosine autophosphorylation (GO:0038083) cytoplasm (GO:0005737) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GTTCCGTGACGATGTACACAG 0.672 NA G||| 1853 0.370008 0.0144 0.4784 5008 , , NA 16702 0.9603 NA 0.2167 False NA ,,, NA NA NA 2504 0.3231 NA NA NA NA 0 G 246,4154 141.9+/-177.2 6,234,1960 98 77 84 900 -0.2 1 20 dbSNP_129 84 1891,6709 336.0+/-321.7 213,1465,2622 no coding-synonymous SRMS NM_080823.2 219,1699,4582 TT,TG,GG 21.9884,5.5909,16.4385 300/489 62173562 2137,10863 2200 4300 6500 SO:0001819 synonymous_variant CCDS13525.1 20q13.33 2013-02-14 2003-08-22 ENSG00000125508 ENSG00000125508 6725 SH2 domain containing 11298 protein-coding gene gene with protein product chromosome 20 open reading frame 148 C20orf148 NA 7935409 Standard NM_080823 NM_080823 NA Approved SRM, dJ697K14.1 uc002yfi.1 Q9H3Y6 OTTHUMG00000032977 ENST00000217188.1:c.900C>A chr20.hg19:g.62173562G>T NA hg19 CCDS13525.1 0.02 13.897813 GACxATG COVERED NOVEL SRMS-001 KNOWN mRNA_end_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080148.1 0 21.064072 KEEP 0 0 0 70 2322 GG 1 1 0 - 17 60 600 0 0 39.578939 294 60 10199 462 ENST00000217188.1 0.054662 1 SRMS 6725 __UNKNOWN__ __UNKNOWN__ 20 62174724 62174724 __UNKNOWN__ Silent SNP G G A rs4809309 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62174724G>A ENST00000217188.1 - 3 628 c.588C>T c.(586-588)taC>taT p.Y196Y NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 196 SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}. NA peptidyl-tyrosine autophosphorylation (GO:0038083) cytoplasm (GO:0005737) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TGGCCTTGTAGTAGGTGAGCA 0.652 NA G||| 1848 0.36901 0.0144 0.4769 5008 , , NA 15558 0.9603 NA 0.2147 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 G 247,4155 141.5+/-176.9 7,233,1961 85 79 81 588 0.7 0 20 dbSNP_111 81 1859,6739 331.6+/-319.7 209,1441,2649 no coding-synonymous SRMS NM_080823.2 216,1674,4610 AA,AG,GG 21.6213,5.6111,16.2 196/489 62174724 2106,10894 2201 4299 6500 SO:0001819 synonymous_variant CCDS13525.1 20q13.33 2013-02-14 2003-08-22 ENSG00000125508 ENSG00000125508 6725 SH2 domain containing 11298 protein-coding gene gene with protein product chromosome 20 open reading frame 148 C20orf148 NA 7935409 Standard NM_080823 NM_080823 NA Approved SRM, dJ697K14.1 uc002yfi.1 Q9H3Y6 OTTHUMG00000032977 ENST00000217188.1:c.588C>T chr20.hg19:g.62174724G>A NA hg19 CCDS13525.1 0.02 4.638293 GTAxTAG COVERED NOVEL SRMS-001 KNOWN mRNA_end_NF|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080148.1 0 8.126482 KEEP 0 0 0 27 972 GG 0.999988 0.999988 0 - 14 60 527 0 0 39.5754 127 60 4786 218 ENST00000217188.1 0.099291 1 HELZ2 85441 __UNKNOWN__ __UNKNOWN__ 20 62191974 62191974 __UNKNOWN__ Missense_Mutation SNP G G A rs114867526 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62191974G>A ENST00000467148.1 - 16 7427 c.7358C>T c.(7357-7359)cCg>cTg p.P2453L HELZ2_ENST00000427522.2_Missense_Mutation_p.P1884L NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator 2453 Interaction with THRAP3. NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NA GACACTGGGCGGCCTCCTCAG 0.647 NA G||| 15 0.00299521 0.0 0.0 5008 , , NA 15844 0.0149 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G LEU/PRO,LEU/PRO 2,4404 4.2+/-10.8 0,2,2201 63 67 65 7358,5651 -3 0 20 dbSNP_132 65 1,8597 1.2+/-3.3 0,1,4298 yes missense,missense PRIC285 NM_001037335.2,NM_033405.3 98,98 0,3,6499 AA,AG,GG 0.0116,0.0454,0.0231 benign,benign 2453/2650,1884/2081 62191974 3,13001 2203 4299 6502 SO:0001583 missense AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441 30021 protein-coding gene gene with protein product peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1 611265 NA 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 NA Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.7358C>T chr20.hg19:g.62191974G>A ENSP00000417401:p.Pro2453Leu NA Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 hg19 CCDS33508.1 0.02 13.067118 GGCxGCC COVERED 7 0.003205128205128205 0 0.0 0 0.0 7 0.012237762237762238 0 0.0 G 0.016 -1.517069 0.00975 4.54E-4 1.16E-4 ENSG00000130589 ENST00000427522;ENST00000467148 D;D 0.92149 -2.98;-2.98 4.12 -3.03 0.05429 ATPase, AAA+ type, core (1); 1.365000 0.04731 N 0.421198 T 0.74749 0.3757 N 0.11255 0.115 0.09310 N 1 B;B 0.18610 0.029;0.002 B;B 0.15484 0.013;0.002 T 0.66093 -0.6009 10 0.23302 T 0.38 -6.4995 3.7447 0.08544 0.3606:0.1025:0.4335:0.1033 . 2453;1884 Q9BYK8;Q9BYK8-2 PR285_HUMAN;. L 1884;2453 ENSP00000393257:P1884L;ENSP00000417401:P2453L ENSP00000393257:P1884L P - 2 0 RP4-697K14.7 61662418 0.000000 0.05858 0.001000 0.08648 0.002000 0.02628 -0.264000 0.08658 -0.408000 0.07565 -0.327000 0.08410 CCG NOVEL HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354127.1 3 41.296995 KEEP 0 2 65 160 5372 GG 1 1 0 - 10 60 356 0 0 20.709925 338 60 11654 648 ENST00000467148.1 0.028736 1 HELZ2 85441 __UNKNOWN__ __UNKNOWN__ 20 62193019 62193019 __UNKNOWN__ Silent SNP C C T rs11551684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62193019C>T ENST00000467148.1 - 12 6840 c.6771G>A c.(6769-6771)ccG>ccA p.P2257P HELZ2_ENST00000427522.2_Silent_p.P1688P NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator 2257 Interaction with THRAP3. NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) p.P2257P(1) NA TGCCCACACGCGGCACTGGGA 0.652 NA C||| 1096 0.21885 0.0068 0.085 5008 , , NA 15633 0.5734 NA 0.166 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C , 169,4237 106.5+/-144.9 2,165,2036 40 45 43 6771,5064 -9 0 20 dbSNP_120 43 1371,7229 253.3+/-279.0 110,1151,3039 no coding-synonymous,coding-synonymous PRIC285 NM_001037335.2,NM_033405.3 , 112,1316,5075 TT,TC,CC 15.9419,3.8357,11.8407 , 2257/2650,1688/2081 62193019 1540,11466 2203 4300 6503 SO:0001819 synonymous_variant AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441 30021 protein-coding gene gene with protein product peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1 611265 NA 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 NA Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.6771G>A chr20.hg19:g.62193019C>T NA Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 hg19 CCDS33508.1 0.02 6.628085 ACGxGGC COVERED NOVEL HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354127.1 1 9.833258 KEEP 0 3 86 63 2135 CC 1 1 0 - 13 60 460 0 0 32.100879 162 60 5557 279 ENST00000467148.1 0.074286 1 HELZ2 85441 __UNKNOWN__ __UNKNOWN__ 20 62193445 62193445 __UNKNOWN__ Missense_Mutation SNP G G A rs3810481 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62193445G>A ENST00000467148.1 - 10 6578 c.6509C>T c.(6508-6510)aCg>aTg p.T2170M HELZ2_ENST00000427522.2_Missense_Mutation_p.T1601M NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator 2170 Interaction with THRAP3. NA T -> M (in dbSNP:rs3810481). cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NA CTGAATGACCGTGAAAGGCTT 0.647 NA G||| 1038 0.207268 0.0068 0.085 5008 , , NA 10051 0.5734 NA 0.16 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 G MET/THR,MET/THR 159,4219 2,155,2032 16 19 18 6509,4802 4.1 0.1 20 dbSNP_107 18 1254,7310 82,1090,3110 yes missense,missense PRIC285 NM_001037335.2,NM_033405.3 81,81 84,1245,5142 AA,AG,GG 14.6427,3.6318,10.9179 probably-damaging,probably-damaging 2170/2650,1601/2081 62193445 1413,11529 2189 4282 6471 SO:0001583 missense AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441 30021 protein-coding gene gene with protein product peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1 611265 NA 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 NA Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.6509C>T chr20.hg19:g.62193445G>A ENSP00000417401:p.Thr2170Met NA Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 hg19 CCDS33508.1 0.02 8.576827 ACCxTGA COVERED 504 0.23076923076923078 6 0.012195121951219513 38 0.10497237569060773 336 0.5874125874125874 124 0.16358839050131926 G 14.03 2.414176 0.42817 0.036318 0.146427 ENSG00000130589 ENST00000427522;ENST00000467148 D;D 0.84589 -1.87;-1.87 4.06 4.06 0.47325 ATPase, AAA+ type, core (1); 0.191368 0.44483 D 0.000456 T 0.00012 0.0000 M 0.87328 2.875 0.21697 P 0.999589272 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 T 0.37957 -0.9683 9 0.72032 D 0.01 -10.5405 11.8752 0.52544 0.0894:0.0:0.9106:0.0 rs3810481;rs60423961;rs3810481 2170;1601 Q9BYK8;Q9BYK8-2 PR285_HUMAN;. M 1601;2170 ENSP00000393257:T1601M;ENSP00000417401:T2170M ENSP00000393257:T1601M T - 2 0 RP4-697K14.7 61663889 1.000000 0.71417 0.078000 0.20375 0.007000 0.05969 5.234000 0.65343 1.830000 0.53286 0.313000 0.20887 ACG NOVEL HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354127.1 1 8.795471 KEEP 0 2 56 49 1691 GG 1 1 0 - 10 60 352 0 0 22.462647 204 60 7229 308 ENST00000467148.1 0.046729 1 HELZ2 85441 __UNKNOWN__ __UNKNOWN__ 20 62195672 62195672 __UNKNOWN__ Silent SNP C C T rs3827023 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62195672C>T ENST00000467148.1 - 8 4572 c.4503G>A c.(4501-4503)ctG>ctA p.L1501L HELZ2_ENST00000427522.2_Silent_p.L932L NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator 1501 NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NA AGTCGGACCGCAGGCGGTGCC 0.677 NA C||| 1160 0.231629 0.0076 0.0994 5008 , , NA 15785 0.5913 NA 0.1958 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 C , 199,4073 9,181,1946 12 10 10 4503,2796 0.1 0.2 20 dbSNP_107 10 1549,6935 146,1257,2839 no coding-synonymous,coding-synonymous PRIC285 NM_001037335.2,NM_033405.3 , 155,1438,4785 TT,TC,CC 18.2579,4.6582,13.7034 , 1501/2650,932/2081 62195672 1748,11008 2136 4242 6378 SO:0001819 synonymous_variant AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441 30021 protein-coding gene gene with protein product peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1 611265 NA 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 NA Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.4503G>A chr20.hg19:g.62195672C>T NA Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 hg19 CCDS33508.1 0.02 10.1421 CCGxAGG COVERED NOVEL HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354127.1 1 18.326874 KEEP 0 2 60 82 2864 CC 1 1 0 - 18 60 594 0 0 38.881967 267 60 9798 441 ENST00000467148.1 0.063158 1 HELZ2 85441 __UNKNOWN__ __UNKNOWN__ 20 62196182 62196182 __UNKNOWN__ Silent SNP G G C rs3810488 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62196182G>C ENST00000467148.1 - 8 4062 c.3993C>G c.(3991-3993)gcC>gcG p.A1331A HELZ2_ENST00000427522.2_Silent_p.A762A NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator 1331 NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NA CTCGGCGGCCGGCAACCCGGC 0.657 NA G||| 1052 0.210064 0.0068 0.085 5008 , , NA 15542 0.5288 NA 0.1759 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 G , 191,4211 6,179,2016 30 34 33 3993,2286 -8.9 0 20 dbSNP_107 33 1448,7140 123,1202,2969 no coding-synonymous,coding-synonymous PRIC285 NM_001037335.2,NM_033405.3 , 129,1381,4985 CC,CG,GG 16.8607,4.3389,12.6174 , 1331/2650,762/2081 62196182 1639,11351 2201 4294 6495 SO:0001819 synonymous_variant AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441 30021 protein-coding gene gene with protein product peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1 611265 NA 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 NA Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.3993C>G chr20.hg19:g.62196182G>C NA Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 hg19 CCDS33508.1 0.02 10.94728 GCCxGCA COVERED NOVEL HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354127.1 0 6.234284 KEEP 0 6 213 95 3242 GG 1 1 0 - 9 60 301 0 0 17.549876 264 60 9134 477 ENST00000467148.1 0.032967 1 HELZ2 85441 __UNKNOWN__ __UNKNOWN__ 20 62203748 62203748 __UNKNOWN__ 5'UTR SNP G G A rs34681475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62203748G>A ENST00000467148.1 - 0 60 HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 Q9BYK8 HELZ2_HUMAN helicase with zinc finger 2, transcriptional coactivator NA NA cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822) NA TCTCCACGGCGCTGTGTGCAA 0.746 NA G||| 1132 0.226038 0.0091 0.0965 5008 , , NA 14897 0.5526 NA 0.1948 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 G 164,3920 3,158,1881 4 5 4 -5.6 0 20 dbSNP_126 4 1420,6712 125,1170,2771 no utr-5 PRIC285 NM_001037335.2 128,1328,4652 AA,AG,GG 17.4619,4.0157,12.9666 62203748 1584,10632 2042 4066 6108 SO:0001623 5_prime_UTR_variant AB201715 CCDS13527.1, CCDS33508.1 20q13.33 2012-09-26 ENSG00000130589 ENSG00000130589 85441 30021 protein-coding gene gene with protein product peroxisomal proliferator activated receptor A interacting complex 285, PPARG-DBD-interacting protein 1 611265 NA 11214970, 12189208, 16239304 Standard NM_001037335 NM_001037335 NA Approved PDIP1, PRIC285, KIAA1769 uc002yfm.2 Q9BYK8 OTTHUMG00000032969 ENST00000467148.1:c.-10C>T chr20.hg19:g.62203748G>A NA Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094 hg19 CCDS33508.1 0.02 4.485878 GGCxCTG COVERED NOVEL HELZ2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354127.1 0 20.460676 KEEP 0 0 0 68 2267 GG 1 0.999995 0 - 10 60 352 0 0 25.311539 103 60 3580 227 ENST00000467148.1 0.088496 0.999995 GMEB2 26205 __UNKNOWN__ __UNKNOWN__ 20 62221364 62221364 __UNKNOWN__ 3'UTR SNP G G A rs2297427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62221364G>A ENST00000266068.1 - 0 2149 GMEB2_ENST00000370069.1_3'UTR|GMEB2_ENST00000370077.1_3'UTR Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CCAGCCCTGCGGCCTCTGCCC 0.647 NA G||| 1123 0.224241 0.0098 0.1066 5008 , , NA 15532 0.5159 NA 0.2117 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF173867 CCDS13528.1 20q13.33 2008-07-02 ENSG00000101216 ENSG00000101216 26205 4371 protein-coding gene gene with protein product 607451 NA 10523663, 11743720 Standard NM_012384 NM_012384 NA Approved P79PIF, KIAA1269, PIF79 uc002yfq.1 Q9UKD1 OTTHUMG00000032988 ENST00000266068.1:c.*78C>T chr20.hg19:g.62221364G>A NA E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1 hg19 CCDS13528.1 0.02 3.83684 TGCxGCC COVERED NOVEL GMEB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080166.1 1 6.254977 KEEP 0 1 32 32 1123 GG 0.999998 0.999997 0 - 5 60 175 0 0 10.689085 125 60 4342 184 ENST00000266068.1 0.038462 1 GMEB2 26205 __UNKNOWN__ __UNKNOWN__ 20 62229244 62229244 __UNKNOWN__ Intron SNP T T C rs2297430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62229244T>C ENST00000266068.1 - 4 836 GMEB2_ENST00000370069.1_Intron|GMEB2_ENST00000370077.1_Intron Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) TGGGTCAAGCTTGGCCGGGAC 0.617 NA T||| 1132 0.226038 0.0091 0.1066 5008 , , NA 20123 0.5198 NA 0.2147 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 T 226,4180 127.0+/-164.0 9,208,1986 78 60 66 -3.8 0 20 dbSNP_100 66 1820,6780 308.1+/-308.7 187,1446,2667 no intron GMEB2 NM_012384.3 196,1654,4653 CC,CT,TT 21.1628,5.1294,15.7312 62229244 2046,10960 2203 4300 6503 SO:0001627 intron_variant AF173867 CCDS13528.1 20q13.33 2008-07-02 ENSG00000101216 ENSG00000101216 26205 4371 protein-coding gene gene with protein product 607451 NA 10523663, 11743720 Standard NM_012384 NM_012384 NA Approved P79PIF, KIAA1269, PIF79 uc002yfq.1 Q9UKD1 OTTHUMG00000032988 ENST00000266068.1:c.358-31A>G chr20.hg19:g.62229244T>C NA E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1 hg19 CCDS13528.1 0.02 16.239229 AGCxTGG COVERED NOVEL GMEB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080166.1 2 12.142354 KEEP 0 3 108 78 2464 TT 1 1 0 - 11 60 409 0 0 24.352701 384 60 13982 613 ENST00000266068.1 0.027848 1 GMEB2 26205 __UNKNOWN__ __UNKNOWN__ 20 62236148 62236148 __UNKNOWN__ Silent SNP T T C rs6090471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62236148T>C ENST00000266068.1 - 2 655 c.177A>G c.(175-177)gcA>gcG p.A59A GMEB2_ENST00000370069.1_Silent_p.A8A|GMEB2_ENST00000370077.1_Silent_p.A59A Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 59 Poly-Ala. NA regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CGGCAGCTGCTGCCGCTGCAT 0.592 NA C||| 3369 0.672724 0.5499 0.6844 5008 , , NA 15286 0.6171 NA 0.9165 False NA ,,, NA NA NA 2504 0.637 NA NA NA NA 0 C 2736,1670 492.4+/-362.4 858,1020,325 58 62 61 177 -10 0 20 dbSNP_114 61 7835,765 176.9+/-226.6 3565,705,30 no coding-synonymous GMEB2 NM_012384.3 4423,1725,355 CC,CT,TT 8.8953,37.9029,18.7221 59/531 62236148 10571,2435 2203 4300 6503 SO:0001819 synonymous_variant AF173867 CCDS13528.1 20q13.33 2008-07-02 ENSG00000101216 ENSG00000101216 26205 4371 protein-coding gene gene with protein product 607451 NA 10523663, 11743720 Standard NM_012384 NM_012384 NA Approved P79PIF, KIAA1269, PIF79 uc002yfq.1 Q9UKD1 OTTHUMG00000032988 ENST00000266068.1:c.177A>G chr20.hg19:g.62236148T>C NA E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1 hg19 CCDS13528.1 0.02 16.828999 TGCxGCC COVERED NOVEL GMEB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080166.1 1 14.012355 KEEP 0 2 70 71 2207 TT 1 1 0 - 19 60 678 0 0 44.539361 344 60 12537 538 ENST00000266068.1 0.052342 1 TNFRSF6B 8771 __UNKNOWN__ __UNKNOWN__ 20 62328267 62328267 __UNKNOWN__ Silent SNP C C T rs2257440 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62328267C>T ENST00000369996.1 + 1 247 c.147C>T c.(145-147)tgC>tgT p.C49C RTEL1_ENST00000318100.4_Missense_Mutation_p.R1352C|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R1352C NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 49 NA apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066) extracellular space (GO:0005615) receptor activity (GO:0004872) central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) GGCTGGTGTGCGCCCAGTGCC 0.711 NA C||| 1321 0.263778 0.0242 0.2637 5008 , , NA 10794 0.6478 NA 0.2038 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 C 298,4042 14,270,1886 15 18 17 147 -8.1 0 20 dbSNP_100 17 1903,6643 226,1451,2596 no coding-synonymous TNFRSF6B NM_003823.3 240,1721,4482 TT,TC,CC 22.2677,6.8664,17.0806 49/301 62328267 2201,10685 2170 4273 6443 SO:0001819 synonymous_variant AF104419 CCDS13532.1 20q13.33 2012-06-27 8771 Tumor necrosis factor receptor superfamily 11921 protein-coding gene gene with protein product 603361 NA 9872321, 10318773 Standard NM_003823 NA Approved DcR3, DCR3, TR6, M68 uc002yfz.3 O95407 OTTHUMG00000143724 ENST00000369996.1:c.147C>T chr20.hg19:g.62328267C>T NA hg19 CCDS13532.1 0.02 10.731869 GTGxGCC COVERED 623 0.28525641025641024 14 0.028455284552845527 71 0.19613259668508287 371 0.6486013986013986 167 0.22031662269129287 C 9.458 1.092457 0.20471 0.068664 0.222677 ENSG00000258366 ENST00000318100 D 0.83335 -1.71 4.06 -8.12 0.01078 . 4.628610 0.00921 N 0.002584 T 0.00012 0.0000 . . . 0.33623 P 0.39491299999999996 . . . . . . T 0.49072 -0.8977 6 0.72032 D 0.01 -21.338 18.8802 0.92353 0.0:0.8572:0.0:0.1428 rs2257440;rs3787087 . . . C 1352 ENSP00000322287:R1352C ENSP00000322287:R1352C R + 1 0 AL353715.1 61798711 0.000000 0.05858 0.000000 0.03702 0.152000 0.21847 -1.308000 0.02730 -1.993000 0.00974 -1.327000 0.01280 CGC NOVEL TNFRSF6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080182.1 1 29.653234 KEEP 0 1 29 109 3423 CC 1 1 0 + 11 60 322 0 0 17.420876 300 60 8813 562 ENST00000369996.1 0.03537 1 TNFRSF6B 8771 __UNKNOWN__ __UNKNOWN__ 20 62328742 62328742 __UNKNOWN__ Silent SNP C C T rs909341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62328742C>T ENST00000369996.1 + 2 586 c.486C>T c.(484-486)agC>agT p.S162S RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 162 NA apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066) extracellular space (GO:0005615) receptor activity (GO:0004872) central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) CAGCCAGCAGCTCCAGCTCAG 0.667 NA C||| 1311 0.261781 0.0242 0.2637 5008 , , NA 18523 0.6468 NA 0.2018 False NA ,,, NA NA NA 2504 0.2464 NA NA NA NA 0 C 304,4058 155.9+/-189.0 12,280,1889 35 30 32 486 3.3 1 20 dbSNP_92 32 1957,6607 314.6+/-311.9 229,1499,2554 no coding-synonymous TNFRSF6B NM_003823.3 241,1779,4443 TT,TC,CC 22.8515,6.9693,17.4919 162/301 62328742 2261,10665 2181 4282 6463 SO:0001819 synonymous_variant AF104419 CCDS13532.1 20q13.33 2012-06-27 8771 Tumor necrosis factor receptor superfamily 11921 protein-coding gene gene with protein product 603361 NA 9872321, 10318773 Standard NM_003823 NA Approved DcR3, DCR3, TR6, M68 uc002yfz.3 O95407 OTTHUMG00000143724 ENST00000369996.1:c.486C>T chr20.hg19:g.62328742C>T NA hg19 CCDS13532.1 0.02 6.064406 CAGxTCC COVERED NOVEL TNFRSF6B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080182.1 1 17.995581 KEEP 0 1 35 72 2642 CC 1 1 0 + 8 60 284 0 0 18.192347 163 60 6189 306 ENST00000369996.1 0.046784 1 ARFRP1 10139 __UNKNOWN__ __UNKNOWN__ 20 62332537 62332537 __UNKNOWN__ Intron SNP C C T rs6122147 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62332537C>T ENST00000359715.5 - 6 984 ARFRP1_ENST00000440854.1_Intron|ARFRP1_ENST00000607873.1_Intron|ARFRP1_ENST00000609142.1_Intron|ARFRP1_ENST00000324228.2_Intron Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 NA NA gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) ACCCCTGCCCCGTACCAGATG 0.602 NA C||| 631 0.125998 0.0204 0.2378 5008 , , NA 16822 0.2192 NA 0.1054 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 C , 67,1645 4,59,793 12 12 12 , -1.4 0 20 dbSNP_114 12 441,3513 21,399,1557 no intron,intron ARFRP1 NM_001134758.1,NM_003224.3 , 25,458,2350 TT,TC,CC 11.1533,3.9136,8.9658 , , 62332537 508,5158 856 1977 2833 SO:0001627 intron_variant X91504 CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1 20q13.3 2014-05-09 ENSG00000101246 ENSG00000101246 10139 ADP-ribosylation factors 662 protein-coding gene gene with protein product 604699 NA 8530503 Standard NM_003224 NA Approved ARP, Arp1, ARL18 uc031rup.1 Q13795 OTTHUMG00000032993 ENST00000359715.5:c.418-483G>A chr20.hg19:g.62332537C>T NA B7ZKX7|E1P5J9|Q6IBQ0 hg19 CCDS13533.1 0.02 6.578593 CCCxGTA COVERED NOVEL ARFRP1-007 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000472024.1 3 12.273832 KEEP 0 1 32 52 1771 CC 1 1 0 - 6 60 231 0 0 14.371131 186 60 6658 303 ENST00000359715.5 0.03125 1 SLC2A4RG 56731 __UNKNOWN__ __UNKNOWN__ 20 62373983 62373983 __UNKNOWN__ Intron SNP G G A rs2256814 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62373983G>A ENST00000266077.2 + 6 1012 SLC2A4RG_ENST00000493772.1_Intron NM_020062.3 NP_064446.2 Q9NR83 S2A4R_HUMAN SLC2A4 regulator NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1) 7 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GTGAGGCCACGGGTGGCAGCT 0.716 NA g||| 1235 0.246605 0.025 0.2406 5008 , , NA 10964 0.621 NA 0.168 False NA ,,, NA NA NA 2504 0.2454 NA NA NA NA 0 G 188,3766 6,176,1795 8 10 9 -5.8 0 20 dbSNP_100 9 1335,6705 102,1131,2787 no intron SLC2A4RG NM_020062.3 108,1307,4582 AA,AG,GG 16.6045,4.7547,12.698 62373983 1523,10471 1977 4020 5997 SO:0001627 intron_variant AF249267 CCDS13537.1 20q13.33 2010-03-11 ENSG00000125520 ENSG00000125520 56731 15930 protein-coding gene gene with protein product GLUT4 enhancer factor, Huntington's disease gene regulatory region-binding protein 1 609493 NA 10825161 Standard NM_020062 NM_020062 NA Approved GEF, HDBP1, Si-1-2, Si-1-2-19 uc002ygq.3 Q9NR83 OTTHUMG00000032997 ENST00000266077.2:c.960+15G>A chr20.hg19:g.62373983G>A NA Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85 hg19 CCDS13537.1 0.02 4.438133 CACxGGT COVERED NOVEL SLC2A4RG-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080202.1 2 12.072546 KEEP 0 4 125 84 2857 GG 1 1 0 + 5 60 192 0 0 12.204992 136 60 4794 310 ENST00000266077.2 0.035461 1 ZBTB46 140685 __UNKNOWN__ __UNKNOWN__ 20 62376227 62376227 __UNKNOWN__ 3'UTR SNP T T C rs2427537 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62376227T>C ENST00000245663.4 - 0 3976 RP4-583P15.10_ENST00000447343.2_RNA|ZBTB46_ENST00000302995.2_Intron|ZBTB46_ENST00000395104.1_3'UTR NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 NA NA negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GAGGCGGGCCTGGGTCCTGGG 0.597 NA C||| 2788 0.556709 0.2769 0.6571 5008 , , NA 14533 0.9563 NA 0.5298 False NA ,,, NA NA NA 2504 0.4796 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK131482 CCDS13538.1 20q13.33 2013-01-08 2006-09-19 2006-09-19 ENSG00000130584 ENSG00000130584 140685 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 16094 protein-coding gene gene with protein product BTB-ZF protein expressed in effector lymphocytes 614639 BTB (POZ) domain containing 4 ZNF340, BTBD4 NA Standard NM_025224 NM_025224 NA Approved FLJ13502, RINZF, BZEL uc002ygv.2 Q86UZ6 OTTHUMG00000033001 ENST00000245663.4:c.*2056A>G chr20.hg19:g.62376227T>C NA E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9 hg19 CCDS13538.1 0.02 4.238725 GCCxGGG COVERED NOVEL ZBTB46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080232.2 2 11.702397 KEEP 0 2 63 61 1899 TT 1 1 0 - 7 60 232 0 0 14.4625 134 60 4848 255 ENST00000245663.4 0.049645 1 ZBTB46 140685 __UNKNOWN__ __UNKNOWN__ 20 62378349 62378349 __UNKNOWN__ Silent SNP C C T rs5019252 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62378349C>T ENST00000245663.4 - 5 1854 c.1704G>A c.(1702-1704)gaG>gaA p.E568E ZBTB46_ENST00000302995.2_Silent_p.E568E|ZBTB46_ENST00000395104.1_Silent_p.E568E NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 568 NA negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCGAGTCTTCCTCATCCTTGT 0.726 NA c||| 1350 0.269569 0.1498 0.379 5008 , , NA 10337 0.3472 NA 0.336 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 T 770,3626 79,612,1507 25 24 25 1704 -7.5 0 20 dbSNP_113 25 2820,5768 445,1930,1919 no coding-synonymous ZBTB46 NM_025224.3 524,2542,3426 TT,TC,CC 32.8365,17.5159,27.6494 568/590 62378349 3590,9394 2198 4294 6492 SO:0001819 synonymous_variant AK131482 CCDS13538.1 20q13.33 2013-01-08 2006-09-19 2006-09-19 ENSG00000130584 ENSG00000130584 140685 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 16094 protein-coding gene gene with protein product BTB-ZF protein expressed in effector lymphocytes 614639 BTB (POZ) domain containing 4 ZNF340, BTBD4 NA Standard NM_025224 NM_025224 NA Approved FLJ13502, RINZF, BZEL uc002ygv.2 Q86UZ6 OTTHUMG00000033001 ENST00000245663.4:c.1704G>A chr20.hg19:g.62378349C>T NA E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9 hg19 CCDS13538.1 0.02 13.102619 TTCxTCA COVERED NOVEL ZBTB46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080232.2 0 48.455309 KEEP 0 0 0 161 5723 CC 1 1 0 - 26 60 946 0 0 67.77919 296 60 10952 614 ENST00000245663.4 0.080745 1 ZBTB46 140685 __UNKNOWN__ __UNKNOWN__ 20 62378364 62378364 __UNKNOWN__ Silent SNP C C T rs12625387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62378364C>T ENST00000245663.4 - 5 1839 c.1689G>A c.(1687-1689)gcG>gcA p.A563A ZBTB46_ENST00000302995.2_Silent_p.A563A|ZBTB46_ENST00000395104.1_Silent_p.A563A NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 563 NA negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CCTTGTCGTCCGCCAACAGCG 0.721 NA C||| 1350 0.269569 0.1392 0.3804 5008 , , NA 10252 0.3452 NA 0.3499 False NA ,,, NA NA NA 2504 0.2065 NA NA NA NA 0 C 746,3652 73,600,1526 30 29 29 1689 -0.2 0.3 20 dbSNP_120 29 2911,5675 480,1951,1862 no coding-synonymous ZBTB46 NM_025224.3 553,2551,3388 TT,TC,CC 33.904,16.9623,28.1654 563/590 62378364 3657,9327 2199 4293 6492 SO:0001819 synonymous_variant AK131482 CCDS13538.1 20q13.33 2013-01-08 2006-09-19 2006-09-19 ENSG00000130584 ENSG00000130584 140685 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 16094 protein-coding gene gene with protein product BTB-ZF protein expressed in effector lymphocytes 614639 BTB (POZ) domain containing 4 ZNF340, BTBD4 NA Standard NM_025224 NM_025224 NA Approved FLJ13502, RINZF, BZEL uc002ygv.2 Q86UZ6 OTTHUMG00000033001 ENST00000245663.4:c.1689G>A chr20.hg19:g.62378364C>T NA E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9 hg19 CCDS13538.1 0.02 16.291165 GTCxGCC COVERED NOVEL ZBTB46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080232.2 0 51.442311 KEEP 0 0 0 171 5909 CC 1 1 0 - 28 60 1012 0 0 71.992473 328 60 11431 681 ENST00000245663.4 0.078652 1 ZBTB46 140685 __UNKNOWN__ __UNKNOWN__ 20 62421622 62421622 __UNKNOWN__ Silent SNP A A G rs755017 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62421622A>G ENST00000245663.4 - 2 639 c.489T>C c.(487-489)gcT>gcC p.A163A ZBTB46_ENST00000395104.1_Silent_p.A163A|ZBTB46_ENST00000302995.2_Silent_p.A163A NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 163 NA negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) TGCTCCTCCCAGCCATCACGG 0.632 NA G||| 1328 0.265176 0.3116 0.1974 5008 , , NA 20170 0.4623 NA 0.1243 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 G 1198,3208 673.7+/-402.8 173,852,1178 26 24 24 489 -9.6 0 20 dbSNP_86 24 1003,7597 749.4+/-407.4 61,881,3358 no coding-synonymous ZBTB46 NM_025224.3 234,1733,4536 GG,GA,AA 11.6628,27.1902,16.923 163/590 62421622 2201,10805 2203 4300 6503 SO:0001819 synonymous_variant AK131482 CCDS13538.1 20q13.33 2013-01-08 2006-09-19 2006-09-19 ENSG00000130584 ENSG00000130584 140685 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 16094 protein-coding gene gene with protein product BTB-ZF protein expressed in effector lymphocytes 614639 BTB (POZ) domain containing 4 ZNF340, BTBD4 NA Standard NM_025224 NM_025224 NA Approved FLJ13502, RINZF, BZEL uc002ygv.2 Q86UZ6 OTTHUMG00000033001 ENST00000245663.4:c.489T>C chr20.hg19:g.62421622A>G NA E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9 hg19 CCDS13538.1 0.02 11.423373 CCCxGCC COVERED NOVEL ZBTB46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080232.2 4 43.622884 KEEP 0 0 0 145 4415 AA 1 1 0 - 10 60 360 0 0 22.314972 254 60 9167 499 ENST00000245663.4 0.037879 1 ZBTB46 140685 __UNKNOWN__ __UNKNOWN__ 20 62422080 62422080 __UNKNOWN__ Missense_Mutation SNP T T C rs2281929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62422080T>C ENST00000245663.4 - 2 181 c.31A>G c.(31-33)Acg>Gcg p.T11A ZBTB46_ENST00000395104.1_Missense_Mutation_p.T11A|ZBTB46_ENST00000302995.2_Missense_Mutation_p.T11A NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 11 NA T -> A (in dbSNP:rs2281929). {ECO:0000269|PubMed:15489334}. negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676) endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) TAGTGGGACGTGATTTCCATA 0.567 NA C||| 1266 0.252796 0.2678 0.1931 5008 , , NA 20715 0.4613 NA 0.1243 False NA ,,, NA NA NA 2504 0.1922 NA NA NA NA 0 C ALA/THR 1084,3322 134,816,1253 42 29 33 31 2.2 1 20 dbSNP_100 33 1005,7593 60,885,3354 yes missense ZBTB46 NM_025224.3 58 194,1701,4607 CC,CT,TT 11.6888,24.6028,16.0643 benign 11/590 62422080 2089,10915 2203 4299 6502 SO:0001583 missense AK131482 CCDS13538.1 20q13.33 2013-01-08 2006-09-19 2006-09-19 ENSG00000130584 ENSG00000130584 140685 -, Zinc fingers, C2H2-type, BTB/POZ domain containing 16094 protein-coding gene gene with protein product BTB-ZF protein expressed in effector lymphocytes 614639 BTB (POZ) domain containing 4 ZNF340, BTBD4 NA Standard NM_025224 NM_025224 NA Approved FLJ13502, RINZF, BZEL uc002ygv.2 Q86UZ6 OTTHUMG00000033001 ENST00000245663.4:c.31A>G chr20.hg19:g.62422080T>C ENSP00000245663:p.Thr11Ala NA E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9 hg19 CCDS13538.1 0.02 24.875952 ACGxGAT COVERED 513 0.2348901098901099 109 0.22154471544715448 57 0.1574585635359116 249 0.4353146853146853 98 0.12928759894459102 C 0.040 -1.289329 0.01387 0.246028 0.116888 ENSG00000130584 ENST00000245663;ENST00000302995;ENST00000395104 T;T;T 0.70631 -0.5;-0.5;-0.5 5.39 2.25 0.28309 BTB/POZ fold (2); 0.216998 0.40818 N 0.001002 T 0.00012 0.0000 N 0.05306 -0.075 0.40220 P 0.02227699999999999 B 0.02656 0.0 B 0.06405 0.002 T 0.43605 -0.9381 9 0.24483 T 0.36 . 5.1718 0.15114 0.0:0.5358:0.1392:0.3251 rs2281929;rs17857409;rs57058623;rs2281929 11 Q86UZ6 ZBT46_HUMAN A 11 ENSP00000245663:T11A;ENSP00000303102:T11A;ENSP00000378536:T11A ENSP00000245663:T11A T - 1 0 ZBTB46 61892524 0.991000 0.36638 0.986000 0.45419 0.418000 0.31294 0.272000 0.18644 -0.022000 0.13986 -1.082000 0.02213 ACG NOVEL ZBTB46-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080232.2 5 70.364945 KEEP 0 0 0 234 7154 TT 1 1 0 - 20 60 702 0 0 41.174814 617 60 21468 1052 ENST00000245663.4 0.031397 1 TCEA2 6919 __UNKNOWN__ __UNKNOWN__ 20 62703490 62703490 __UNKNOWN__ Intron SNP C C T rs13039439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62703490C>T ENST00000343484.5 + 10 1060 TCEA2_ENST00000395053.3_Intron|TCEA2_ENST00000465111.1_Intron|TCEA2_ENST00000361317.2_Intron NM_003195.4 NP_003186.1 Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 NA NA DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784) centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TCTCATGTGGCCACAAGGCTG 0.657 NA C||| 969 0.19349 0.0756 0.2205 5008 , , NA 19254 0.2242 NA 0.2445 False NA ,,, NA NA NA 2504 0.2495 NA NA NA NA 0 C , 454,3952 218.1+/-236.3 29,396,1778 81 72 75 , 1.5 0 20 dbSNP_121 75 2200,6400 375.3+/-337.7 290,1620,2390 no intron,intron TCEA2 NM_003195.4,NM_198723.1 , 319,2016,4168 TT,TC,CC 25.5814,10.3041,20.406 , , 62703490 2654,10352 2203 4300 6503 SO:0001627 intron_variant U86749 CCDS13553.1, CCDS13554.1 20q13.33 2011-01-25 ENSG00000171703 ENSG00000171703 6919 11614 protein-coding gene gene with protein product 604784 NA 9441762, 8566795 Standard NM_198723 NM_003195 NA Approved TFIIS uc021wgq.1 Q15560 OTTHUMG00000033026 ENST00000343484.5:c.892-35C>T chr20.hg19:g.62703490C>T NA B3KNM1|Q8TD37|Q8TD38 hg19 CCDS13553.1 0.02 13.621846 TGGxCAC COVERED NOVEL TCEA2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080277.2 1 16.554468 KEEP 0 0 0 55 1993 CC 1 1 0 + 11 60 376 0 0 21.163911 376 60 13859 526 ENST00000343484.5 0.028424 1 NPBWR2 2832 __UNKNOWN__ __UNKNOWN__ 20 62737318 62737318 __UNKNOWN__ Silent SNP G G A rs13036542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62737318G>A ENST00000369768.1 - 1 1206 c.867C>T c.(865-867)ccC>ccT p.P289P NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 289 NA G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GTGGGGTCTGGGGCAGGTCCG 0.617 NA G||| 2247 0.448682 0.348 0.5245 5008 , , NA 14518 0.6091 NA 0.4821 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 G 1589,2815 492.0+/-362.3 282,1025,895 147 102 117 867 -0.2 0 20 dbSNP_121 117 4045,4551 554.9+/-386.6 969,2107,1222 no coding-synonymous NPBWR2 NM_005286.2 1251,3132,2117 AA,AG,GG 47.0568,36.0808,43.3385 289/334 62737318 5634,7366 2202 4298 6500 SO:0001819 synonymous_variant U22492 CCDS13557.1 20q13.3 2012-08-08 2006-02-15 2006-02-15 ENSG00000125522 ENSG00000125522 2832 GPCR / Class A : Neuropeptide receptors : W/B 4530 protein-coding gene gene with protein product 600731 G protein-coupled receptor 8 GPR8 NA 12401809 Standard NM_005286 NM_005286 NA Approved uc011abt.2 P48146 OTTHUMG00000033032 ENST00000369768.1:c.867C>T chr20.hg19:g.62737318G>A NA Q6NWQ6|Q9H4K3 hg19 CCDS13557.1 0.02 15.855883 CTGxGGC COVERED NOVEL NPBWR2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080300.1 2 4.383955 KEEP 0 2 64 37 1288 GG 1 1 0 - 11 60 420 0 0 25.888764 349 60 13119 467 ENST00000369768.1 0.030556 1 MYT1 4661 __UNKNOWN__ __UNKNOWN__ 20 62831155 62831155 __UNKNOWN__ Intron SNP C C T rs17568163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr20:62831155C>T ENST00000328439.1 + 4 419 MYT1_ENST00000536311.1_Intron|MYT1_ENST00000360149.4_Intron NM_004535.2 NP_004526.1 Q99640 PMYT1_HUMAN myelin transcription factor 1 NA NA G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654) ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCAAACCTCTCGGCTGTTTAA 0.512 NA C||| 167 0.0333466 0.0537 0.0259 5008 , , NA 20251 0.0149 NA 0.0557 False NA ,,, NA NA NA 2504 0.0072 NA NA NA GBM(59;481 1041 20555 21139 33705) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M96980 CCDS13558.1 20q13.33 2014-03-24 ENSG00000196132 ENSG00000196132 4661 Zinc fingers, C2HC-type containing 7622 protein-coding gene gene with protein product neural zinc finger transcription factor 2 600379 PLPB1 NA 1280325, 9268380 Standard NM_004535 NM_004535 NA Approved MTF1, MYTI, ZC2HC4A, NZF2 uc002yii.3 Q01538 OTTHUMG00000149988 ENST00000328439.1:c.56-90C>T chr20.hg19:g.62831155C>T NA B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9 hg19 CCDS13558.1 0.02 10.625839 TCTxGGC COVERED NOVEL MYT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000080297.1 0 10.232002 KEEP 0 0 0 34 1152 CC 0.999998 0.999998 0 + 11 60 349 0 0 20.559171 253 60 9215 362 ENST00000328439.1 0.041667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9650036 9650036 __UNKNOWN__ IGR SNP A A G rs78832528 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9650036A>G NA NA None (None upstream) : CR381670.1 (33154 downstream) NA NA NA TGTCTAGAGCATTGGGCAGAA 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9650036A>G NA hg19 0.02 4.458938 AGCxTTG COVERED NOVEL 0 0 3.310094 KEEP 10 0 0 11 349 AA 0.992708 0.992708 0 8 48 301 0 0 20.628702 131 60 4802 183 0.057554 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9650060 9650060 __UNKNOWN__ IGR SNP C C T rs376222179 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9650060C>T NA NA None (None upstream) : CR381670.1 (33130 downstream) NA NA NA TCTGGGACCACACCACACCAG 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9650060C>T NA hg19 0.02 6.950334 CCAxACC COVERED NOVEL 0 1 5.417239 KEEP 53 0 0 18 625 CC 0.992708 0.992708 0 17 60 627 0 0 48.110957 127 60 4750 266 0.118056 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9650093 9650093 __UNKNOWN__ IGR SNP T T A rs370942166 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9650093T>A NA NA None (None upstream) : CR381670.1 (33097 downstream) NA NA NA TCCACGTCATTTGCCTTCTAT 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9650093T>A NA hg19 0.02 6.857201 CATxTGC COVERED NOVEL 0 3 5.149775 KEEP 73 1 31 28 887 TT 0.997832 0.997832 0 21 60 778 0 0 60.392571 146 60 5407 346 0.125749 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9673829 9673829 __UNKNOWN__ IGR SNP C C T rs71243890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9673829C>T NA NA None (None upstream) : CR381670.1 (9361 downstream) NA NA NA ctgcccgcctcggcctcccaa 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9673829C>T NA hg19 0.02 -0.166679 CCTxGGC COVERED NOVEL 0 4 6.319037 KEEP 1 0 0 21 693 CC 0.999863 0.353898 0 3 60 101 0 0 8.178566 13 60 455 58 0.1875 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9678077 9678077 __UNKNOWN__ IGR SNP T T A rs71244389 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9678077T>A NA NA None (None upstream) : CR381670.1 (5113 downstream) NA NA NA gctcaagcaatccacccacct 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9678077T>A NA hg19 0.02 -0.210499 CAAxCCA UNCOVERED NOVEL 0 5 3.309037 KEEP 13 0 0 11 323 TT 0 0 0 6 49 202 0 0 17.201663 18 57 670 53 0.25 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9678977 9678977 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9678977A>G NA NA None (None upstream) : CR381670.1 (4213 downstream) NA NA NA aagtgctgggattacaggcgt 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9678977A>G NA hg19 0.02 -0.201782 GGGxTTA COVERED NOVEL 0 5 6.019003 KEEP 17 0 0 20 656 AA 0.99254 0.486885 0 3 25 108 0 0 8.971846 12 60 449 64 0.2 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9684397 9684397 __UNKNOWN__ IGR SNP A A T rs373100658 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9684397A>T NA NA CR381670.1 (1125 upstream) : MIR3648 (141434 downstream) NA NA NA ccacagcaggagtgttctgga 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9684397A>T NA hg19 0.02 -0.254421 AGGxGTG COVERED NOVEL 0 12 3.61068 KEEP 15 0 0 12 389 AG 0.99257 0.688515 0 3 47 108 0 0 9.300874 9 60 322 74 0.25 0.693668 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9695932 9695932 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9695932C>G NA NA CR381670.1 (12660 upstream) : MIR3648 (129899 downstream) NA NA NA GCCAAACGCTCCGGCCGCTGA 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9695932C>G NA hg19 0.02 4.531426 GCTxCGG UNCOVERED NOVEL 0 4 4.212687 KEEP 40 0 0 14 459 CC 0 0 0 6 40 227 0 0 15.333888 109 40 4080 205 0.052174 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9695991 9695991 __UNKNOWN__ IGR SNP A A T rs535671641 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9695991A>T NA NA CR381670.1 (12719 upstream) : MIR3648 (129840 downstream) NA NA NA GGGTTTAAATAGCCTCGGGCG 0.602 NA .||| 183 0.0365415 0.0643 0.0403 5008 , , NA 174826 0.005 NA 0.0398 False NA ,,, NA NA NA 2504 0.0256 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9695991A>T NA hg19 0.02 6.740056 AATxGCC COVERED NOVEL 0 2 6.9212 KEEP 40 0 0 23 725 AA 0.999859 0.999859 0 8 40 302 0 0 19.96989 164 41 5927 301 0.046512 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9698944 9698944 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9698944C>T NA NA CR381670.1 (15672 upstream) : MIR3648 (126887 downstream) NA NA NA tcttcaccatccctcagggac 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9698944C>T NA hg19 0.02 1.871848 CATxCCT COVERED NOVEL 0 3 3.009609 KEEP 17 0 0 10 341 CC 0.99254 0.992435 0 5 40 186 0 0 12.921667 73 60 2752 134 0.064103 0.999895 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699063 9699063 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9699063T>C NA NA CR381670.1 (15791 upstream) : MIR3648 (126768 downstream) NA NA NA cagttactcctcagtctctag 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9699063T>C NA hg19 0.02 4.755416 TCCxCAG COVERED NOVEL 0 15 9.328935 KEEP 36 0 0 31 995 TT 0.999909 0.999909 0 8 49 295 0 0 20.586459 111 52 3969 257 0.067227 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699081 9699081 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9699081T>C NA NA CR381670.1 (15809 upstream) : MIR3648 (126750 downstream) NA NA NA tagcacgtctttatctccaac 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9699081T>C NA hg19 0.02 5.171286 TCTxTAT COVERED NOVEL 0 11 7.523006 KEEP 36 0 0 25 790 TT 0.999366 0.999344 0 6 49 240 0 0 17.414326 80 49 2831 204 0.069767 0.999978 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699556 9699556 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9699556G>C NA NA CR381670.1 (16284 upstream) : MIR3648 (126275 downstream) NA NA NA gtctgtcccagctcctctccc 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9699556G>C NA hg19 0.02 4.009351 CCAxCTC COVERED NOVEL 0 4 3.310854 KEEP 17 0 0 11 394 GG 0.99254 0.99254 0 6 45 222 0 0 15.776553 75 50 2789 194 0.074074 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9699792 9699792 __UNKNOWN__ IGR SNP T T G rs367857167 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9699792T>G NA NA CR381670.1 (16520 upstream) : MIR3648 (126039 downstream) NA NA NA actgacttactccccagtctc 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9699792T>G NA hg19 0.02 1.965226 TACxCCC UNCOVERED NOVEL 0 4 4.212916 KEEP 44 0 0 14 441 TT 0 0 0 9 40 294 0 0 22.544553 53 40 1863 132 0.145161 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9700088 9700088 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9700088C>A NA NA CR381670.1 (16816 upstream) : MIR3648 (125743 downstream) NA NA NA GAGACTATCTCCCTATGACCT 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9700088C>A NA hg19 0.02 2.073856 TCTxCCT UNCOVERED NOVEL 0 3 6.919501 KEEP 95 0 0 23 802 CC 0 0 0 6 36 203 0 0 14.610153 56 57 2084 227 0.096774 0.996724 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9700103 9700103 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9700103C>A NA NA CR381670.1 (16831 upstream) : MIR3648 (125728 downstream) NA NA NA TGACCTGTACCTATACAGGGA 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9700103C>A NA hg19 0.02 2.28209 TACxTAT UNCOVERED NOVEL 0 1 6.019819 KEEP 89 0 0 20 731 CC 0 0 0 4 24 150 0 0 10.468697 58 57 2265 219 0.064516 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9714576 9714576 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9714576G>A NA NA CR381670.1 (31304 upstream) : MIR3648 (111255 downstream) NA NA NA tttttgtagagatggggtctt 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9714576G>A NA hg19 0.02 -0.201766 AGAxATG UNCOVERED NOVEL 0 5 3.009695 KEEP 19 0 0 10 350 GG 0 0 0 3 39 118 0 0 9.491451 18 49 668 49 0.142857 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9719070 9719070 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9719070G>A NA NA CR381670.1 (35798 upstream) : MIR3648 (106761 downstream) NA NA NA tcaggatgttgtcagactcct 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9719070G>A NA hg19 0.02 -0.096493 GTTxTCA UNCOVERED NOVEL 0 5 2.708855 KEEP 14 0 0 9 319 GG 0 0 0 2 49 77 0 0 6.700538 6 40 227 33 0.25 0.120436 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825630 9825630 __UNKNOWN__ IGR SNP T T C rs370253309 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9825630T>C NA NA CR381670.1 (142358 upstream) : MIR3648 (201 downstream) NA NA NA CGTCCGTTGGTGGCCCCGCCT 0.791 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9825630T>C NA hg19 0.02 29.218789 TGGxGGC COVERED NOVEL 0 85 28.506885 KEEP 0 7 220 172 5046 TT 1 1 0 29 60 903 0 0 50.359548 783 60 26343 1262 0.035714 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825657 9825657 __UNKNOWN__ IGR SNP C C A rs572210289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9825657C>A NA NA CR381670.1 (142385 upstream) : MIR3648 (174 downstream) NA NA NA GAACCCGGCACCGCCTCGTGG 0.801 NA .||| 5 0.000998403 0.0 0.0 5008 , , NA 174420 0.0 NA 0.004 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9825657C>A NA hg19 0.02 31.704341 GCAxCGC COVERED NOVEL 0 59 8.061361 KEEP 0 11 335 145 4788 CC 1 1 0 64 60 1935 0 0 127.925962 744 60 25873 1232 0.079208 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825684 9825684 __UNKNOWN__ IGR SNP A A G rs377670437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9825684A>G NA NA CR381670.1 (142412 upstream) : MIR3648 (147 downstream) NA NA NA GCCGCCGGCCACTGATCGGCC 0.786 NA .||| 751 0.14996 0.1899 0.1383 5008 , , NA 122756 0.0615 NA 0.1958 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9825684A>G NA hg19 0.02 36.945531 GCCxCTG COVERED NOVEL 0 35 14.946537 KEEP 0 7 232 131 3725 AA 1 1 0 46 60 1618 0 0 107.122205 764 60 25673 1168 0.05679 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825790 9825790 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9825790C>G NA NA CR381670.1 (142518 upstream) : MIR3648 (41 downstream) NA NA NA GGGGGTCGGCCTgcggcgcgt 0.836 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9825790C>G NA hg19 0.02 26.497234 GGCxTGC COVERED NOVEL 0 8 17.786605 KEEP 0 5 165 117 3714 CC 1 1 0 42 60 1352 1 0 86.904243 646 60 20799 1110 0.061047 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9825809 9825809 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9825809G>A NA NA CR381670.1 (142537 upstream) : MIR3648 (22 downstream) NA NA NA gtgcgggggaggagacggttc 0.836 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9825809G>A NA hg19 0.02 23.861012 GGAxGAG COVERED NOVEL 0 7 12.543867 KEEP 0 6 177 104 3477 GG 1 1 0 38 60 1236 0 0 79.982164 576 60 20010 1032 0.061889 1 MIR3687 0 __UNKNOWN__ __UNKNOWN__ 21 9826237 9826237 __UNKNOWN__ RNA SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9826237C>G ENST00000577708.1 + 0 35 NR_037458.1 NA NA NA GGTGGTCCCTCCCGGACAGGC 0.806 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000577708.1: chr21.hg19:g.9826237C>G NA hg19 0.02 42.395185 CCTxCCG COVERED NOVEL MIR3687-201 KNOWN basic miRNA NA miRNA 4 123.635984 KEEP 0 33 1161 816 28231 CC 1 1 0 + 38 60 1436 0 0 94.481205 806 60 29692 2000 ENST00000577708.1 0.045024 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9826977 9826977 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9826977G>A NA NA MIR3687 (714 upstream) : TEKT4P2 (80216 downstream) NA NA NA gtccggccgcgtcggggcctc 0.701 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9826977G>A NA hg19 0.02 27.507465 CGCxTCG COVERED NOVEL 0 3 18.112823 KEEP 0 10 277 158 5307 GG 1 1 0 46 60 1501 0 0 99.529659 624 60 20553 1118 0.068657 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9846725 9846725 __UNKNOWN__ IGR SNP G G A rs367711142 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9846725G>A NA NA MIR3687 (20462 upstream) : TEKT4P2 (60468 downstream) NA NA NA gtagagatgggttttcactgt 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9846725G>A NA hg19 0.02 -0.289504 TGGxTTT COVERED NOVEL 0 5 2.708792 KEEP 0 0 0 9 311 GG 0.99254 0.755211 0 6 60 203 0 0 16.95193 21 60 762 42 0.222222 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9851797 9851797 __UNKNOWN__ IGR SNP A A T rs68090923 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9851797A>T NA NA MIR3687 (25534 upstream) : TEKT4P2 (55396 downstream) NA NA NA ggcgtgtgccagcatgcctca 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9851797A>T NA hg19 0.02 -0.078959 GCCxGCA UNCOVERED NOVEL 0 4 2.407183 KEEP 0 0 0 8 247 AA 0.99257 0.076761 0 5 60 179 0 0 17.600151 4 60 154 20 0.555556 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9858080 9858080 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9858080G>A NA NA MIR3687 (31817 upstream) : TEKT4P2 (49113 downstream) NA NA NA TAAGGCAAAGGGGAAATTGGA 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9858080G>A NA hg19 0.02 6.475713 AAGxGGA COVERED NOVEL 0 1 5.718582 KEEP 0 0 0 19 663 GG 0.99986 0.99986 0 20 60 730 0 0 55.331123 159 60 5720 232 0.111732 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 9891901 9891901 __UNKNOWN__ IGR SNP C C T rs6605427 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9891901C>T NA NA MIR3687 (65638 upstream) : TEKT4P2 (15292 downstream) NA NA NA AGATTTAACGCGGACTTGGAT 0.378 NA .||| 85 0.0169728 0.003 0.0115 5008 , , NA 30745 0.0486 NA 0.0099 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.9891901C>T NA hg19 0.02 4.575052 ACGxGGA COVERED NOVEL 0 1 3.009681 KEEP 8 0 0 10 353 CC 0.99254 0.992537 0 20 52 687 0 0 57.114047 74 60 2735 137 0.212766 0.999997 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9909179 9909179 __UNKNOWN__ RNA SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9909179C>A ENST00000416067.1 - 0 227 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA AGTCCACCAGCACCCACAGGT 0.672 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9909179C>A NA hg19 0.02 15.242621 CAGxACC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 3 18.907657 KEEP 7 5 154 117 4097 CC 1 1 0 - 20 60 678 0 0 43.937333 347 60 12804 691 ENST00000416067.1 0.054496 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9911258 9911258 __UNKNOWN__ RNA SNP A A G rs372592439 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9911258A>G ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA gaaggcatgaagggagggagg 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9911258A>G NA hg19 0.02 10.128131 TGAxGGG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 0 3.241746 KEEP 8 1 29 21 628 AA 0.999863 0.999863 0 - 19 40 725 0 0 55.024512 165 60 6074 287 ENST00000416067.1 0.103261 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9911951 9911951 __UNKNOWN__ RNA SNP G G A rs80321146 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9911951G>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA GTCTCCACATGGTCACGCACA 0.632 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9911951G>A NA hg19 0.02 7.038184 CATxGTC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 1 3.912207 KEEP 2 0 0 13 431 GG 0.994391 0.994391 0 - 11 49 396 0 0 29.702349 91 60 3429 173 ENST00000416067.1 0.107843 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9912410 9912410 __UNKNOWN__ RNA SNP C C T rs6605398 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9912410C>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA TCTGCGGTGCCGGCTCTGGTA 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9912410C>T NA hg19 0.02 9.499577 TGCxGGC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 4 5.151559 KEEP 2 4 125 61 2022 CC 1 1 0 - 10 60 319 0 0 21.139168 132 60 4518 328 ENST00000416067.1 0.070423 1 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9912534 9912534 __UNKNOWN__ RNA SNP A A C rs369605382 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9912534A>C ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA TCGGCTCCAAAGGCTCAGTCC 0.602 NA .||| 61 0.0121805 0.0363 0.0144 5008 , , NA 24257 0.0 NA 0.003 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9912534A>C NA hg19 0.02 2.107241 CAAxGGC COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 3 4.512137 KEEP 0 0 0 15 453 AA 0.99649 0.996295 0 - 9 60 292 0 0 20.894923 79 60 2870 120 ENST00000416067.1 0.102273 0.999804 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9912556 9912556 __UNKNOWN__ RNA SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9912556G>C ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA AGAGCAGGACGTGGCTCCCAG 0.607 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9912556G>C NA hg19 0.02 2.095259 GACxTGG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 2 3.009865 KEEP 0 0 0 10 358 GG 0.992708 0.991932 0 - 10 60 369 0 0 28.700124 68 60 2446 105 ENST00000416067.1 0.128205 0.999218 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9916966 9916966 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9916966C>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA tcttgaacctctgacctcaga 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9916966C>T NA hg19 0.02 -0.175469 CCTxTGA COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 1 2.407728 KEEP 0 0 0 8 278 CC 0.99257 0.384528 0 - 4 57 148 0 0 12.461954 15 60 585 35 ENST00000416067.1 0.210526 0.387407 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9922027 9922027 __UNKNOWN__ RNA SNP G G T rs375367234 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9922027G>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA AACATGGCCAGAAGCTCCAGC 0.622 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9922027G>T NA hg19 0.02 1.982906 CCAxAAG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 1 2.407844 KEEP 7 0 0 8 282 GG 0.99257 0.989319 0 - 10 27 336 0 0 26.715811 49 60 1780 95 ENST00000416067.1 0.169492 0.996724 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9922072 9922072 __UNKNOWN__ RNA SNP C C G rs559083842 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9922072C>G ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA GCAGGTGAGGCTGTGATGAAG 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9922072C>G NA hg19 0.02 -0.25441 AGGxTGT COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 0 2.708685 KEEP 6 0 0 9 323 CC 0.99254 0.663536 0 - 3 60 121 0 0 9.547907 22 60 822 53 ENST00000416067.1 0.12 0.668523 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9943584 9943584 __UNKNOWN__ RNA SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9943584C>G ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA tgagaacattcatgatttaaa 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9943584C>G NA hg19 0.02 -0.298294 ATTxATG COVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 2 2.407812 KEEP 0 0 0 8 280 CC 0.99257 0.775257 0 - 3 40 115 0 0 8.79124 25 60 950 48 ENST00000416067.1 0.107143 0.78106 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9946109 9946109 __UNKNOWN__ RNA SNP C C A rs368992455 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9946109C>A ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA caggtgtgagccaccgcgccc 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9946109C>A NA hg19 0.02 -0.228103 GAGxCAC UNCOVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 3 3.009705 KEEP 7 0 0 10 346 CC 0 0 0 - 5 30 193 0 0 17.723011 9 49 328 43 ENST00000416067.1 0.357143 0.58293 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9956707 9956707 __UNKNOWN__ RNA SNP A A T rs376888039 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9956707A>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA caaaaaaaaaaaaataaaaat 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9956707A>T NA hg19 0.02 -0.043806 AAAxAAA UNCOVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 1 2.708191 KEEP 1 0 0 9 282 AA 0.99254 0.023894 0 - 3 50 91 0 0 9.063157 2 60 74 23 ENST00000416067.1 0.6 0.024074 TEKT4P2 100132288 __UNKNOWN__ __UNKNOWN__ 21 9960195 9960195 __UNKNOWN__ RNA SNP C C T rs373335666 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:9960195C>T ENST00000416067.1 - 0 129 NR_037872.1|NR_038327.1 tektin 4 pseudogene 2 NA NA NA gcctgggcaacaagagggaaa 0.458 NA .||| 57 0.0113818 0.0008 0.0072 5008 , , NA 5265 0.0 NA 0.0159 False NA ,,, NA NA NA 2504 0.0358 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 21p11.2 2012-10-03 2011-06-14 2011-06-14 ENSG00000188681 ENSG00000188681 100132288 40046 pseudogene pseudogene MAFF interacting protein-like MAFIPL NA Standard NM_001033515 NR_038327 NA Approved uc021wgx.1 OTTHUMG00000172149 ENST00000416067.1: chr21.hg19:g.9960195C>T NA hg19 0.02 -0.061411 CAAxAAG UNCOVERED NOVEL TEKT4P2-002 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000417115.1 5 3.005402 KEEP 2 0 0 10 313 CC 0.99254 0.04346 0 - 2 60 72 0 0 6.495661 4 60 141 26 ENST00000416067.1 0.333333 0.043787 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10085698 10085698 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10085698G>C NA NA TEKT4P2 (117113 upstream) : CR381653.1 (114244 downstream) NA NA NA gaaaggagtggaatggaatgg 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10085698G>C NA hg19 0.02 1.962915 GTGxAAT COVERED NOVEL 0 55 14.136067 KEEP 14 0 0 47 1610 GG 1 0.999962 0 4 42 156 2 0 13.730911 11 60 394 197 0.266667 0.999962 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10119637 10119637 __UNKNOWN__ IGR SNP G G T rs369139353 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10119637G>T NA NA TEKT4P2 (151052 upstream) : CR381653.1 (80305 downstream) NA NA NA gtgtggtggcgggcacctgta 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10119637G>T NA hg19 0.02 -0.113048 GGCxGGC UNCOVERED NOVEL 0 6 3.912312 KEEP 14 0 0 13 430 GG 0.99257 0.16126 0 2 25 76 0 0 6.393285 8 50 238 40 0.2 0.162467 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10139689 10139689 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10139689C>T NA NA TEKT4P2 (171104 upstream) : CR381653.1 (60253 downstream) NA NA NA ttaataaatacgtgggtaaat 0.393 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10139689C>T NA hg19 0.02 2.308484 ATAxGTG UNCOVERED NOVEL 0 1 2.406901 KEEP 4 0 0 8 251 CC 0 0 0 4 40 150 0 0 10.527959 56 49 1961 80 0.066667 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10139716 10139716 __UNKNOWN__ IGR SNP C C G rs374253393 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10139716C>G NA NA TEKT4P2 (171131 upstream) : CR381653.1 (60226 downstream) NA NA NA tcagggctctcagctctgaag 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10139716C>G NA hg19 0.02 2.367848 TCTxAGC COVERED NOVEL 0 0 2.407807 KEEP 3 0 0 8 280 CC 0.99257 0.991982 0 5 49 195 0 0 14.000666 67 60 2510 112 0.069444 0.999407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10139792 10139792 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10139792T>C NA NA TEKT4P2 (171207 upstream) : CR381653.1 (60150 downstream) NA NA NA ttaattcctctagtgctgctg 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10139792T>C NA hg19 0.02 2.041898 CTCxAGT COVERED NOVEL 0 1 3.308716 KEEP 4 0 0 11 320 TT 0.993072 0.992697 0 4 60 148 0 0 10.051809 66 60 2418 117 0.057143 0.999622 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10145091 10145091 __UNKNOWN__ IGR SNP C C G rs372029485 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10145091C>G NA NA TEKT4P2 (176506 upstream) : CR381653.1 (54851 downstream) NA NA NA cctcagcctcctgaatagcta 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10145091C>G NA hg19 0.02 -0.28951 CTCxTGA COVERED NOVEL 0 10 5.855231 KEEP 14 1 36 32 1128 CC 0.999909 0.760818 0 3 27 112 0 0 8.764029 20 50 718 82 0.130435 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10145258 10145258 __UNKNOWN__ IGR SNP G G T rs374730021 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10145258G>T NA NA TEKT4P2 (176673 upstream) : CR381653.1 (54684 downstream) NA NA NA atgagccactgcacctggtct 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10145258G>T NA hg19 0.02 -0.175467 ACTxCAC COVERED NOVEL 0 1 4.213781 KEEP 3 0 0 14 495 GG 0.994391 0.385234 0 4 49 136 0 0 11.730685 11 60 439 47 0.266667 0.387407 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146474 10146474 __UNKNOWN__ IGR SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10146474A>T NA NA TEKT4P2 (177889 upstream) : CR381653.1 (53468 downstream) NA NA NA ttttttttgtagagtcagcat 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10146474A>T NA hg19 0.02 -0.315829 TGTxGAG COVERED NOVEL 0 3 5.845204 KEEP 18 1 30 30 917 AA 0.999909 0.83564 0 4 48 139 0 0 10.573335 28 50 1005 86 0.125 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10146532 10146532 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10146532C>A NA NA TEKT4P2 (177947 upstream) : CR381653.1 (53410 downstream) NA NA NA ccttggcctcctaaagtgttg 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10146532C>A NA hg19 0.02 2.252408 CTCxTAA COVERED NOVEL 0 12 4.721018 KEEP 22 3 95 49 1783 CC 1 0.989542 0 5 48 193 0 0 14.409843 50 50 1960 175 0.090909 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10207672 10207672 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10207672T>C NA NA CR381653.1 (7647 upstream) : RN7SL52P (172707 downstream) NA NA NA aaaagaaaattgtaacattag 0.358 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10207672T>C NA hg19 0.02 2.180216 AATxGTA UNCOVERED NOVEL 0 1 3.611235 KEEP 58 0 0 12 387 TT 0 0 0 4 22 139 0 0 8.895357 77 40 2817 179 0.049383 0.999881 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10207673 10207673 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10207673G>A NA NA CR381653.1 (7648 upstream) : RN7SL52P (172706 downstream) NA NA NA aaagaaaattgtaacattagc 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10207673G>A NA hg19 0.02 2.062772 ATTxTAA UNCOVERED NOVEL 0 1 3.611863 KEEP 58 0 0 12 431 GG 0 0 0 4 22 147 0 0 9.64805 79 40 2944 182 0.048193 0.999907 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10775251 10775251 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10775251G>T NA NA SNORA70 (389204 upstream) : IGHV1OR21-1 (87370 downstream) NA NA NA ggactggaatggaatggacac 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10775251G>T NA hg19 0.02 -0.307064 AATxGAA COVERED NOVEL 0 18 4.878296 KEEP 17 2 56 36 1263 GG 0.999997 0.800243 0 4 60 149 0 0 11.961118 22 60 829 104 0.153846 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 10793969 10793969 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10793969A>G NA NA SNORA70 (407922 upstream) : IGHV1OR21-1 (68652 downstream) NA NA NA cttgaatggaatggactcgaa 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.10793969A>G NA hg19 0.02 14.391576 GGAxTGG COVERED NOVEL 0 26 2.480305 KEEP 0 8 280 106 3175 AA 1 1 0 11 60 395 0 0 24.92481 252 70 9272 528 0.041825 1 TPTE 7179 __UNKNOWN__ __UNKNOWN__ 21 10912300 10912300 __UNKNOWN__ Intron SNP C C A rs112372026|rs373257279|rs375271341 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10912300C>A ENST00000361285.4 - 22 1686 TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron NM_199261.2 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aactccgtctcaaaaaaaaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 12023 protein-coding gene gene with protein product PTEN-related tyrosine phosphatase, cancer/testis antigen 44 604336 NA 10830953, 14659893 Standard NM_001290224 NA Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000361285.4:c.1357-1901G>T chr21.hg19:g.10912300C>A NA B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 hg19 CCDS13560.2 0.02 -0.02632 TCTxAAA UNCOVERED NOVEL TPTE-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000157413.1 5 2.708775 KEEP 1 0 0 9 311 CC 0.99257 0 0 - 2 60 75 1 2 7.624867 1 60 37 15 ENST00000361285.4 0.666667 0 TPTE 7179 __UNKNOWN__ __UNKNOWN__ 21 10942601 10942601 __UNKNOWN__ Intron SNP C C T rs1810855 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:10942601C>T ENST00000361285.4 - 13 1060 TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron NM_199261.2 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATATATCCTCATGAATAAAG 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 12023 protein-coding gene gene with protein product PTEN-related tyrosine phosphatase, cancer/testis antigen 44 604336 NA 10830953, 14659893 Standard NM_001290224 NA Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000361285.4:c.730+109G>A chr21.hg19:g.10942601C>T NA B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 hg19 CCDS13560.2 0.02 13.352301 CCTxATG COVERED NOVEL TPTE-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000157413.1 2 2.739469 KEEP 0 1 28 19 609 CC 0.999863 0.999863 0 - 65 60 2303 1 0 189.36395 274 60 10200 375 ENST00000361285.4 0.19174 1 TPTE 7179 __UNKNOWN__ __UNKNOWN__ 21 11025279 11025279 __UNKNOWN__ Intron SNP C C G rs200711576 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11025279C>G ENST00000415664.2 - 2 239 BAGE2_ENST00000470054.1_RNA P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology NA NA peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gagcgaaactccatctcaaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF007118 CCDS74771.1, CCDS74772.1, CCDS74773.1 21p11 2011-06-09 ENSG00000166157 ENSG00000274391 7179 Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs 12023 protein-coding gene gene with protein product PTEN-related tyrosine phosphatase, cancer/testis antigen 44 604336 NA 10830953, 14659893 Standard NM_001290224 NA Approved PTEN2, CT44 uc002yip.1 P56180 OTTHUMG00000074127 ENST00000415664.2:c.3097+1443G>C chr21.hg19:g.11025279C>G NA B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8 hg19 0.02 -0.227546 ACTxCAT COVERED NOVEL TPTE-006 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000340030.1 12 4.51518 KEEP 12 1 37 28 953 CC 0.999869 0.641263 0 - 3 31 119 0 0 9.297092 23 60 807 78 ENST00000415664.2 0.115385 0.641347 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11038702 11038702 __UNKNOWN__ RNA SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11038702T>A ENST00000470054.1 - 0 1476 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATATCTTTTCTGTCAATATCA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11038702T>A NA A8K925|Q08ER0 hg19 0.02 10.126835 TTCxGTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 6.620412 KEEP 77 0 0 22 697 TT 0.997832 0.997832 0 - 10 40 341 0 0 20.254713 287 60 10552 446 ENST00000470054.1 0.03367 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11038748 11038748 __UNKNOWN__ RNA SNP C C T rs75164355 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11038748C>T ENST00000470054.1 - 0 1455 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGAGGTCTACCAGGAGAAAAT 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11038748C>T NA A8K925|Q08ER0 hg19 0.02 21.858742 TACxAGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 13.236383 KEEP 66 0 0 44 1513 CC 1 1 0 - 29 40 1080 0 0 74.379962 450 60 16476 688 ENST00000470054.1 0.060543 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11038967 11038967 __UNKNOWN__ RNA SNP T T C rs28692944 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11038967T>C ENST00000470054.1 - 0 1236 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGACTCTGTCTCAGATGATAA 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11038967T>C NA A8K925|Q08ER0 hg19 0.02 42.398751 GTCxCAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 7 12.349149 KEEP 23 9 306 148 4702 TT 1 1 0 - 71 49 2565 0 0 182.194975 841 55 30769 1206 ENST00000470054.1 0.077851 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039055 11039055 __UNKNOWN__ RNA SNP A A G rs28538601 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11039055A>G ENST00000470054.1 - 0 1148 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAGTCCATCAATCCAGTAGAA 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039055A>G NA A8K925|Q08ER0 hg19 0.02 44.277362 TCAxTCC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 6.846202 KEEP 13 12 428 172 5522 AA 1 1 0 - 77 60 2945 0 0 216.310955 843 60 30959 1269 ENST00000470054.1 0.083696 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039091 11039091 __UNKNOWN__ RNA SNP T T A rs28572631 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11039091T>A ENST00000470054.1 - 0 1112 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTGTTCCTTTTCTCCTTGT 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039091T>A NA A8K925|Q08ER0 hg19 0.02 42.427195 CCTxTTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 11 22.633445 KEEP 0 8 250 163 5136 TT 1 1 0 - 70 60 2521 0 0 177.07458 878 60 31398 1229 ENST00000470054.1 0.07384 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11039441 11039441 __UNKNOWN__ RNA SNP G G C rs3915343 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11039441G>C ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTATGTTGGGATGATATTAC 0.294 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11039441G>C NA A8K925|Q08ER0 hg19 0.02 18.574558 TGGxATG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 7 7.524046 KEEP 0 0 0 25 843 GG 0.999931 0.999931 0 - 38 60 1427 0 0 106.256676 363 60 13415 428 ENST00000470054.1 0.094763 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11040326 11040326 __UNKNOWN__ RNA SNP G G A rs626597 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11040326G>A ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tactttttttgtttttgtaga 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11040326G>A NA A8K925|Q08ER0 hg19 0.02 -0.201782 TTTxTTT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 2.407578 KEEP 0 0 0 8 279 GG 0.99257 0.4869 0 - 3 60 109 0 0 8.660147 17 60 631 39 ENST00000470054.1 0.15 0.490544 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11043340 11043340 __UNKNOWN__ RNA SNP C C T rs28707732 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11043340C>T ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccacacccggcctagggagta 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11043340C>T NA A8K925|Q08ER0 hg19 0.02 -0.271971 CGGxCTA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 11 4.18724 KEEP 1 1 34 26 900 CC 0.999988 0.717307 0 - 4 60 145 0 0 11.49016 23 60 855 74 ENST00000470054.1 0.148148 0.717315 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11043401 11043401 __UNKNOWN__ RNA SNP G G C rs7278378 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11043401G>C ENST00000470054.1 - 0 774 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) atatttgcatggtcttaaagt 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11043401G>C NA A8K925|Q08ER0 hg19 0.02 -0.201778 CATxGTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 2.407299 KEEP 0 0 0 8 253 GG 0.99257 0.4869 0 - 3 60 101 0 0 7.664495 20 60 725 34 ENST00000470054.1 0.130435 0.490544 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11049364 11049364 __UNKNOWN__ RNA SNP C C T rs468502|rs71263986 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11049364C>T ENST00000470054.1 - 0 659 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGAACAACCTCTATTATATTA 0.313 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11049364C>T NA A8K925|Q08ER0 hg19 0.02 16.109447 CCTxTAT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 0 2.641688 KEEP 9 1 29 19 616 CC 0.999863 0.999863 0 - 36 60 1271 0 0 94.907512 294 60 10977 419 ENST00000470054.1 0.109091 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11049495 11049495 __UNKNOWN__ RNA SNP C C A rs28640965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11049495C>A ENST00000470054.1 - 0 613 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCAACCTGCACGTTTTAATGG 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11049495C>A NA A8K925|Q08ER0 hg19 0.02 29.454882 GCAxGTT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 0 7.225392 KEEP 322 3 97 58 1915 CC 1 1 0 - 19 40 700 0 0 41.940081 621 40 21658 1066 ENST00000470054.1 0.029687 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11049651 11049651 __UNKNOWN__ RNA SNP T T C rs12329881 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11049651T>C ENST00000470054.1 - 0 487 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATGAAATTGTTGTATAAGAA 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11049651T>C NA A8K925|Q08ER0 hg19 0.02 42.192746 TTGxTGT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 7.144308 KEEP 0 9 328 138 4520 TT 1 1 0 - 67 60 2592 0 0 189.664301 774 60 27650 1121 ENST00000470054.1 0.079667 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11049664 11049664 __UNKNOWN__ RNA SNP T T A rs28594857 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11049664T>A ENST00000470054.1 - 0 487 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TATAAGAATTTAAATTTTTTC 0.338 NA NA NA NA NA NA NA NA NA NA NA 0 97 74 81 NA NA 21 NA 11049664 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11049664T>A NA A8K925|Q08ER0 hg19 0.02 31.403681 ATTxAAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 15.915259 KEEP 0 5 154 107 3332 TT 1 1 0 - 20 60 732 0 0 42.464078 752 60 27163 965 ENST00000470054.1 0.025907 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058085 11058085 __UNKNOWN__ RNA SNP C C A rs545963045|rs2838188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11058085C>A ENST00000470054.1 - 0 487 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAATAACACTCAGGGAATTTA 0.333 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058085C>A NA A8K925|Q08ER0 hg19 0.02 8.519415 ACTxAGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 4.213167 KEEP 20 0 0 14 465 CC 0.994391 0.994391 0 - 10 27 329 0 0 21.082049 177 60 6549 243 ENST00000470054.1 0.053476 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058330 11058330 __UNKNOWN__ RNA SNP G G A rs138162498 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11058330G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCGCTGAAAGGGGTAAAGGA 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 72 55 60 NA NA 21 NA 11058330 692 1591 2283 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058330G>A NA A8K925|Q08ER0 hg19 0.02 33.818252 AAAxGGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 7 22.042394 KEEP 11 5 156 128 4374 GG 1 1 0 - 43 49 1559 1 0 104.568175 732 60 26464 1037 ENST00000470054.1 0.055484 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058340 11058340 __UNKNOWN__ RNA SNP A A C rs28617310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11058340A>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363 NA a||| 41 0.0081869 0.0136 0.0014 5008 , , NA 64928 0.002 NA 0.005 False NA ,,, NA NA NA 2504 0.0153 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058340A>C NA A8K925|Q08ER0 hg19 0.02 25.038395 AGGxGAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 22.631968 KEEP 15 2 71 100 3004 AA 1 1 0 - 27 49 913 0 0 55.002498 648 60 23842 873 ENST00000470054.1 0.04 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11058410 11058410 __UNKNOWN__ RNA SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11058410T>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAAAACTCTGTACATCACAAG 0.323 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11058410T>C NA A8K925|Q08ER0 hg19 0.02 7.414851 CTGxACA UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 0 2.406392 KEEP 16 0 0 8 247 TT 0 0 0 - 20 60 767 0 0 60.482281 133 70 4619 190 ENST00000470054.1 0.130719 1 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11061103 11061103 __UNKNOWN__ RNA SNP G G A rs4913698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11061103G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tcatgagcctggggtgggaaa 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11061103G>A NA A8K925|Q08ER0 hg19 0.02 -0.254269 CCTxGGG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 2 3.310852 KEEP 1 0 0 11 396 GG 0.993072 0.663892 0 - 4 60 121 0 0 9.32687 20 60 759 55 ENST00000470054.1 0.166667 0.668523 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11061118 11061118 __UNKNOWN__ RNA SNP C C T rs77942887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11061118C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gggaaaattgcttgagcccag 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11061118C>T NA A8K925|Q08ER0 hg19 0.02 -0.271973 TTGxTTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 2 3.311023 KEEP 0 0 0 11 412 CC 0.993072 0.712346 0 - 4 60 144 0 0 11.461198 22 60 856 53 ENST00000470054.1 0.153846 0.717315 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11062986 11062986 __UNKNOWN__ RNA SNP C C T rs139512674 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11062986C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aatcgtgagccaattaaacct 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11062986C>T NA A8K925|Q08ER0 hg19 0.02 -0.298132 AGCxAAT UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 1 2.407863 KEEP 5 0 0 8 287 CC 0 0 0 - 4 49 138 0 0 10.936993 21 60 753 52 ENST00000470054.1 0.16 0.78106 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11064776 11064776 __UNKNOWN__ RNA SNP C C A rs1818574 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11064776C>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtaatcccagcactttgggag 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11064776C>A NA A8K925|Q08ER0 hg19 0.02 -0.359708 CAGxACT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 9.329964 KEEP 0 0 0 31 1118 CC 0.999997 0.888873 0 - 6 60 217 0 0 17.599378 29 60 1115 101 ENST00000470054.1 0.171429 0.888875 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11064825 11064825 __UNKNOWN__ RNA SNP C C T rs4095760 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11064825C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agatcgagaccatcctggcta 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11064825C>T NA A8K925|Q08ER0 hg19 0.02 -0.315824 GACxATC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 7.223513 KEEP 0 0 0 24 847 CC 0.999909 0.818391 0 - 4 60 151 0 0 12.235414 21 60 767 77 ENST00000470054.1 0.16 0.818465 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11072483 11072483 __UNKNOWN__ RNA SNP G G A rs75938377 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11072483G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctgcattccagcctgggcaac 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11072483G>A NA A8K925|Q08ER0 hg19 0.02 -0.157915 CCAxCCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 4.213827 KEEP 0 0 0 14 511 GG 0.995343 0.321303 0 - 3 59 100 0 0 7.991319 14 60 519 41 ENST00000470054.1 0.176471 0.322807 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11077573 11077573 __UNKNOWN__ RNA SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11077573A>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) taaataaataaataaataaat 0.383 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11077573A>C NA A8K925|Q08ER0 hg19 0.02 -0.061412 ATAxATA UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 1 2.406444 KEEP 0 0 0 8 239 AA 0.99257 0.043461 0 - 2 60 75 0 0 6.795694 4 60 137 16 ENST00000470054.1 0.333333 0.043787 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080374 11080374 __UNKNOWN__ RNA SNP C C T rs7282986 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11080374C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgcagtgagccgagatcatgc 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080374C>T NA A8K925|Q08ER0 hg19 0.02 -0.219308 AGCxGAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 2 4.815182 KEEP 0 0 0 16 528 CC 0.997832 0.551689 0 - 3 60 114 0 0 8.904807 21 60 696 49 ENST00000470054.1 0.125 0.552887 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080417 11080417 __UNKNOWN__ RNA SNP A A T rs5000002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11080417A>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caagagtaagactctgtctcc 0.527 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080417A>T NA A8K925|Q08ER0 hg19 0.02 -0.228026 AAGxCTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 3.310438 KEEP 0 0 0 11 363 AA 0.993072 0.578892 0 - 3 60 93 0 0 6.866328 20 60 689 47 ENST00000470054.1 0.130435 0.58293 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080459 11080459 __UNKNOWN__ RNA SNP G G A rs5000003 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11080459G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAAGGAgccaggcgtggtggt 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080459G>A NA A8K925|Q08ER0 hg19 0.02 -0.315716 CCAxGCG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 3.611519 KEEP 0 0 0 12 418 GG 0.993634 0.813254 0 - 4 60 125 0 0 9.077056 30 60 1112 59 ENST00000470054.1 0.117647 0.818465 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080496 11080496 __UNKNOWN__ RNA SNP A A T rs2986773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11080496A>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agctactcagaggctgaagta 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080496A>T NA A8K925|Q08ER0 hg19 0.02 -0.35093 CAGxGGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 3.309877 KEEP 1 0 0 11 339 AA 0.992708 0.871307 0 - 5 60 182 0 0 14.041335 35 60 1299 65 ENST00000470054.1 0.125 0.877708 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080529 11080529 __UNKNOWN__ RNA SNP A A G rs3954671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11080529A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gagctagaggatcacttgacc 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080529A>G NA A8K925|Q08ER0 hg19 0.02 -0.236866 AGGxTCA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 2.700732 KEEP 1 0 0 9 249 AA 0.99257 0.607857 0 - 4 49 141 0 0 11.090502 23 60 830 43 ENST00000470054.1 0.148148 0.612407 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11080729 11080729 __UNKNOWN__ RNA SNP C C T rs59289004 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11080729C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gcctgtaatcccagcactttg 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11080729C>T NA A8K925|Q08ER0 hg19 0.02 2.156204 ATCxCAG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 4.21326 KEEP 1 0 0 14 466 CC 0.994391 0.991957 0 - 5 49 171 0 0 11.877434 59 60 2124 107 ENST00000470054.1 0.078125 0.997553 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11081454 11081454 __UNKNOWN__ RNA SNP G G A rs79595898 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11081454G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaaaaaactagccgggcacag 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11081454G>A NA A8K925|Q08ER0 hg19 0.02 -0.105278 CTAxCCG UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 11 2.844376 KEEP 0 1 33 21 735 GG 0.999879 0.139815 0 - 2 50 75 0 0 6.635534 5 60 185 39 ENST00000470054.1 0.285714 0.139832 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11086813 11086813 __UNKNOWN__ RNA SNP T T C rs7280198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11086813T>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ataaatgatatcacattatgc 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11086813T>C NA A8K925|Q08ER0 hg19 0.02 -0.34186 ATAxCAC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 5 2.743017 KEEP 1 1 37 22 689 TT 0.999879 0.86564 0 - 4 60 150 0 0 11.357805 34 60 1204 80 ENST00000470054.1 0.105263 0.865745 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11086977 11086977 __UNKNOWN__ RNA SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11086977G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tggcgtggtagcactcgccta 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11086977G>A NA A8K925|Q08ER0 hg19 0.02 -0.19301 GTAxCAC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 1 3.310606 KEEP 1 0 0 11 383 GG 0.992708 0.454419 0 - 3 60 107 0 0 8.460253 17 60 641 40 ENST00000470054.1 0.15 0.457757 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11089399 11089399 __UNKNOWN__ RNA SNP G G A rs2979606 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11089399G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tgtgccagtagtcccagctac 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11089399G>A NA A8K925|Q08ER0 hg19 0.02 -0.140372 GTAxTCC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 8 4.851651 KEEP 0 1 34 28 1003 GG 0.999997 0.260964 0 - 3 60 102 0 0 8.472454 11 60 428 57 ENST00000470054.1 0.214286 0.260965 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092101 11092101 __UNKNOWN__ RNA SNP A A T rs117583412 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11092101A>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aaaaaaaaaaaaaaaaaGCCT 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092101A>T NA A8K925|Q08ER0 hg19 0.02 -0.131595 AAAxAAA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 2 2.707971 KEEP 0 0 0 9 278 AA 0.99254 0.227464 0 - 5 60 184 0 0 18.100288 4 60 144 28 ENST00000470054.1 0.555556 0.229173 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092121 11092121 __UNKNOWN__ RNA SNP G G A rs10432998 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11092121G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAGAATCTCGTCTTTAACAT 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092121G>A NA A8K925|Q08ER0 hg19 0.02 -0.122775 CTCxTCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 1 2.407582 KEEP 0 0 0 8 261 GG 0.99257 0.194853 0 - 5 60 191 0 0 19.191009 3 60 88 27 ENST00000470054.1 0.625 0.196312 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092248 11092248 __UNKNOWN__ RNA SNP A A G rs8134688 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11092248A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gactggtgccatctcagctca 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092248A>G NA A8K925|Q08ER0 hg19 0.02 -0.19301 GCCxTCT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 2 3.008753 KEEP 0 0 0 10 304 AA 0.992708 0.454419 0 - 3 60 102 0 0 8.032911 16 60 600 44 ENST00000470054.1 0.157895 0.457757 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092260 11092260 __UNKNOWN__ RNA SNP T T C rs28840990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11092260T>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ctcagctcactgcaacctccg 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092260T>C NA A8K925|Q08ER0 hg19 0.02 -0.184205 CACxGCA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 3.00939 KEEP 0 0 0 10 324 TT 0.992708 0.42039 0 - 4 60 132 0 0 11.201576 12 60 428 41 ENST00000470054.1 0.25 0.423478 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11092628 11092628 __UNKNOWN__ RNA SNP G G C rs2943985 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11092628G>C ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) accacaccgggctaatttttg 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11092628G>C NA A8K925|Q08ER0 hg19 0.02 -0.122767 CGGxCTA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 6 6.318124 KEEP 4 0 0 21 685 GG 0.999366 0.229028 0 - 2 60 80 0 0 6.60684 10 60 344 42 ENST00000470054.1 0.166667 0.229173 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11094707 11094707 __UNKNOWN__ RNA SNP A A G rs9631261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11094707A>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aagcaggcagatcacctgcct 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11094707A>G NA A8K925|Q08ER0 hg19 0.02 -0.298239 CAGxTCA COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 6.920625 KEEP 0 0 0 23 714 AA 0.999892 0.780976 0 - 3 60 104 0 0 7.742044 24 60 850 71 ENST00000470054.1 0.111111 0.78106 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11094909 11094909 __UNKNOWN__ RNA SNP C C G rs2747622 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11094909C>G ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) aagcaaaactccgtctcaaaa 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11094909C>G NA A8K925|Q08ER0 hg19 0.02 -0.263151 ACTxCGT COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 13 10.533328 KEEP 0 0 0 35 1206 CC 0.999999 0.693667 0 - 3 60 122 0 0 9.541581 24 60 848 93 ENST00000470054.1 0.111111 0.693668 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11094945 11094945 __UNKNOWN__ RNA SNP C C T rs4913751|rs71272786 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11094945C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTGCTAAGGGCTTCCAGGAAA 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11094945C>T NA A8K925|Q08ER0 hg19 0.02 -0.201789 GGGxTTC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 2.743294 KEEP 0 1 34 21 715 CC 0.999879 0.490485 0 - 3 60 107 0 0 8.460137 17 60 659 55 ENST00000470054.1 0.15 0.490544 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097088 11097088 __UNKNOWN__ RNA SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11097088C>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caagatcgcaccactgcactc 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097088C>T NA A8K925|Q08ER0 hg19 0.02 -0.184228 GCAxCAC UNCOVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 4 3.310764 KEEP 7 0 0 11 397 CC 0 0 0 - 3 60 111 0 0 8.860186 17 60 606 38 ENST00000470054.1 0.15 0.423478 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097416 11097416 __UNKNOWN__ RNA SNP G G A rs112053669 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11097416G>A ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gggcatggtggcgcctgcctg 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097416G>A NA A8K925|Q08ER0 hg19 0.02 -0.201779 GTGxCGC COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 9 5.11497 KEEP 0 0 0 17 573 GG 0.999366 0.490234 0 - 3 60 105 0 0 8.332834 16 60 573 49 ENST00000470054.1 0.157895 0.490544 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097447 11097447 __UNKNOWN__ RNA SNP G G T rs77782678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11097447G>T ENST00000470054.1 - 0 324 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tactcgggaggctgagacaga 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097447G>T NA A8K925|Q08ER0 hg19 0.02 -0.192961 GAGxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 10 4.815779 KEEP 0 0 0 16 574 GG 0.997832 0.456764 0 - 3 60 89 0 0 6.814056 15 60 548 45 ENST00000470054.1 0.166667 0.457757 BAGE2 85319 __UNKNOWN__ __UNKNOWN__ 21 11097608 11097608 __UNKNOWN__ RNA SNP C C T rs4913758 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11097608C>T ENST00000470054.1 - 0 261 Q86Y30 BAGE2_HUMAN B melanoma antigen family, member 2 NA NA extracellular region (GO:0005576) NA Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccttcatcagcctggcttgga 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 70 89 82 NA NA 21 NA 11097608 1450 2607 4057 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 85319 15723 protein-coding gene gene with protein product cancer/testis antigen family 2, member 2 NA 12461691 Standard NM_182482 NM_182482 NA Approved CT2.2 Q86Y30 OTTHUMG00000074128 ENST00000470054.1: chr21.hg19:g.11097608C>T NA A8K925|Q08ER0 hg19 0.02 2.060481 CAGxCTG COVERED NOVEL BAGE2-001 KNOWN basic processed_transcript NA pseudogene OTTHUMT00000157417.3 3 4.815993 KEEP 1 0 0 16 593 CC 0.99649 0.99598 0 - 13 60 455 0 0 36.299679 67 60 2445 133 ENST00000470054.1 0.1625 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11100814 11100814 __UNKNOWN__ IGR SNP T T C rs79215895 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11100814T>C NA NA BAGE2 (1889 upstream) : AP003900.6 (68973 downstream) NA NA NA tggtgtgatcttggctcactg 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11100814T>C NA hg19 0.02 -0.184232 ATCxTGG COVERED NOVEL 0 3 3.610555 KEEP 1 0 0 12 382 TT 0.993072 0.420544 0 3 58 118 0 0 9.491363 18 60 647 45 0.142857 0.423478 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11107682 11107682 __UNKNOWN__ IGR SNP G G T rs10433012 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11107682G>T NA NA BAGE2 (8757 upstream) : AP003900.6 (62105 downstream) NA NA NA acccggccgagcccaggagtt 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11107682G>T NA hg19 0.02 1.836581 CGAxCCC COVERED NOVEL 0 13 2.743256 KEEP 2 1 28 19 694 GG 0.999859 0.991954 0 7 60 209 0 0 18.618052 13 60 441 100 0.35 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11108375 11108375 __UNKNOWN__ IGR SNP A A G rs79149489 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11108375A>G NA NA BAGE2 (9450 upstream) : AP003900.6 (61412 downstream) NA NA NA aatcacttgaacccagaaggc 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11108375A>G NA hg19 0.02 -0.122824 TGAxCCC COVERED NOVEL 0 1 3.910858 KEEP 0 0 0 13 397 AA 0.994391 0.19521 0 2 60 79 0 0 8.024945 1 60 34 38 0.666667 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11109610 11109610 __UNKNOWN__ IGR SNP A A G rs12185868 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11109610A>G NA NA BAGE2 (10685 upstream) : AP003900.6 (60177 downstream) NA NA NA ggaggccgacatgggtggatc 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11109610A>G NA hg19 0.02 -0.307048 GACxTGG COVERED NOVEL 0 6 3.742517 KEEP 0 1 30 23 674 AA 0.999909 0.800173 0 3 60 90 0 0 6.628787 19 60 709 74 0.136364 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11110995 11110995 __UNKNOWN__ IGR SNP G G A rs2698642 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11110995G>A NA NA BAGE2 (12070 upstream) : AP003900.6 (58792 downstream) NA NA NA ctacagacgtgagctactgtg 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11110995G>A NA hg19 0.02 -0.201631 CGTxAGC COVERED NOVEL 0 4 3.009405 KEEP 0 0 0 10 339 GG 0.992708 0.486967 0 3 60 109 0 0 9.073618 12 60 430 39 0.2 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11111893 11111893 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11111893G>T NA NA BAGE2 (12968 upstream) : AP003900.6 (57894 downstream) NA NA NA tgttggccaggctggtctcga 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11111893G>T NA hg19 0.02 -0.201783 CAGxCTG COVERED NOVEL 0 2 3.740995 KEEP 1 1 18 19 640 GG 0.99986 0.490476 0 4 60 147 0 0 11.993668 19 60 693 49 0.173913 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11112110 11112110 __UNKNOWN__ IGR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11112110A>C NA NA BAGE2 (13185 upstream) : AP003900.6 (57677 downstream) NA NA NA TCCATCCCACACCCGCCATCA 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11112110A>C NA hg19 0.02 -0.394508 CACxCCC COVERED NOVEL 0 1 6.015806 KEEP 0 0 0 20 600 AA 0.999863 0.934364 0 3 60 99 0 0 6.558544 42 60 1416 93 0.066667 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11112150 11112150 __UNKNOWN__ IGR SNP G G A rs140426267 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11112150G>A NA NA BAGE2 (13225 upstream) : AP003900.6 (57637 downstream) NA NA NA TAAATGCCACggctgggcgca 0.547 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11112150G>A NA hg19 0.02 2.182328 CACxGCT COVERED NOVEL 0 8 6.651709 KEEP 0 1 34 34 1125 GG 0.999999 0.996231 0 7 60 239 0 0 17.50477 60 60 2049 129 0.104478 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11112401 11112401 __UNKNOWN__ IGR SNP C C T rs28403062 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11112401C>T NA NA BAGE2 (13476 upstream) : AP003900.6 (57386 downstream) NA NA NA cactgcactccagcctgctgg 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11112401C>T NA hg19 0.02 -0.333384 CTCxAGC COVERED NOVEL 0 4 6.320469 KEEP 0 0 0 21 737 CC 0.999869 0.851873 0 5 60 184 0 0 14.763071 27 60 1026 77 0.15625 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11112402 11112402 __UNKNOWN__ IGR SNP A A G rs28379433 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11112402A>G NA NA BAGE2 (13477 upstream) : AP003900.6 (57385 downstream) NA NA NA actgcactccagcctgctgga 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11112402A>G NA hg19 0.02 -0.333384 TCCxGCC COVERED NOVEL 0 4 6.319281 KEEP 0 0 0 21 668 AA 0.999869 0.851873 0 5 60 185 0 0 14.863004 27 60 1017 78 0.15625 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114003 11114003 __UNKNOWN__ IGR SNP C C T rs9325299 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114003C>T NA NA BAGE2 (15078 upstream) : AP003900.6 (55784 downstream) NA NA NA tttgggaggccaaggtgggca 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114003C>T NA hg19 0.02 -0.298284 GGCxAAG COVERED NOVEL 0 3 3.912527 KEEP 0 0 0 13 444 CC 0.994391 0.776679 0 4 47 163 0 0 13.512528 20 60 727 63 0.166667 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114414 11114414 __UNKNOWN__ IGR SNP T T A rs4465863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114414T>A NA NA BAGE2 (15489 upstream) : AP003900.6 (55373 downstream) NA NA NA AAAAAGTGAGTTTTTAATATG 0.264 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114414T>A NA hg19 0.02 8.572637 GAGxTTT COVERED NOVEL 0 3 5.315834 KEEP 0 1 6 20 544 TT 0.999869 0.999869 0 21 60 726 0 0 52.073636 210 60 6986 262 0.090909 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114478 11114478 __UNKNOWN__ IGR SNP G G A rs4358221 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114478G>A NA NA BAGE2 (15553 upstream) : AP003900.6 (55309 downstream) NA NA NA ATACATCTGCGTGAATTGTTT 0.328 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114478G>A NA hg19 0.02 25.860124 TGCxTGA COVERED NOVEL 0 3 11.940486 KEEP 0 3 92 72 2405 GG 1 1 0 35 60 1287 0 0 88.135301 541 60 17784 759 0.060764 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114490 11114490 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114490C>A NA NA BAGE2 (15565 upstream) : AP003900.6 (55297 downstream) NA NA NA GAATTGTTTCCTTTAGCACTA 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114490C>A NA hg19 0.02 29.14281 TTCxTTT COVERED NOVEL 0 3 8.001196 KEEP 0 5 158 82 2904 CC 1 1 0 32 60 1135 1 0 73.275602 625 60 23001 902 0.048706 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114515 11114515 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114515A>G NA NA BAGE2 (15590 upstream) : AP003900.6 (55272 downstream) NA NA NA AACAGACTCCATAACCTTCCA 0.353 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114515A>G NA hg19 0.02 31.846637 TCCxTAA COVERED NOVEL 0 4 25.750138 KEEP 0 3 107 123 3883 AA 1 1 0 24 60 857 0 0 51.12648 721 60 26936 1124 0.032215 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114611 11114611 __UNKNOWN__ IGR SNP G G A rs4358222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114611G>A NA NA BAGE2 (15686 upstream) : AP003900.6 (55176 downstream) NA NA NA TTCAGCAGCGGCCCAGGTGGA 0.502 NA g||| 7 0.00139776 0.0045 0.0014 5008 , , NA 111926 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114611G>A NA hg19 0.02 37.082336 GCGxCCC COVERED NOVEL 0 3 28.530103 KEEP 0 3 94 128 4419 GG 1 1 0 26 60 930 0 0 55.475209 786 60 28707 1159 0.03202 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114613 11114613 __UNKNOWN__ IGR SNP C C T rs545625602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114613C>T NA NA BAGE2 (15688 upstream) : AP003900.6 (55174 downstream) NA NA NA CAGCAGCGGCCCAGGTGGAGT 0.502 NA c||| 89 0.0177716 0.0091 0.0101 5008 , , NA 111536 0.0129 NA 0.008 False NA ,,, NA NA NA 2504 0.0501 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114613C>T NA hg19 0.02 39.266221 GGCxCAG COVERED NOVEL 0 3 28.355244 KEEP 0 3 87 125 4262 CC 1 1 0 28 60 979 0 0 58.565044 784 60 28421 1155 0.034483 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114682 11114682 __UNKNOWN__ IGR SNP C C G rs10433192 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114682C>G NA NA BAGE2 (15757 upstream) : AP003900.6 (55105 downstream) NA NA NA ACAGCTCTCCCCGATCTCTCT 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114682C>G NA hg19 0.02 35.541324 TCCxCGA COVERED NOVEL 0 1 10.283912 KEEP 0 7 237 117 4234 CC 1 1 0 33 60 1164 0 0 77.912754 519 60 19453 1131 0.059783 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11114778 11114778 __UNKNOWN__ IGR SNP G G T rs78412460 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11114778G>T NA NA BAGE2 (15853 upstream) : AP003900.6 (55009 downstream) NA NA NA GTTCTTCATCGTACCTGGAGA 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11114778G>T NA hg19 0.02 22.278055 ATCxTAC COVERED NOVEL 0 3 7.960217 KEEP 0 1 30 37 1297 GG 1 1 0 20 60 693 0 0 44.16096 404 60 14743 615 0.04717 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11116573 11116573 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11116573C>T NA NA BAGE2 (17648 upstream) : AP003900.6 (53214 downstream) NA NA NA gggacagatacaaagaaagag 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11116573C>T NA hg19 0.02 -0.298285 ATAxAAA COVERED NOVEL 0 4 3.310742 KEEP 0 0 0 11 385 CC 0.993072 0.775649 0 4 60 149 0 0 11.460773 30 60 1107 55 0.117647 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11116794 11116794 __UNKNOWN__ IGR SNP G G A rs7283082 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11116794G>A NA NA BAGE2 (17869 upstream) : AP003900.6 (52993 downstream) NA NA NA gcgtggtggcgggcacctgta 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11116794G>A NA hg19 0.02 -0.271949 GGCxGGC COVERED NOVEL 0 2 2.708609 KEEP 1 0 0 9 309 GG 0.99257 0.711986 0 5 40 177 0 0 14.380541 23 60 777 43 0.178571 0.717315 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11119241 11119241 __UNKNOWN__ IGR SNP G G A rs6582854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11119241G>A NA NA BAGE2 (20316 upstream) : AP003900.6 (50546 downstream) NA NA NA AAGTGAGAAGGCATTCAAAGT 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11119241G>A NA hg19 0.02 -0.419696 AAGxCAT COVERED NOVEL 0 5 3.91253 KEEP 0 0 0 13 451 GG 0.994391 0.943082 0 3 60 114 0 0 7.963276 45 60 1573 73 0.0625 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11124993 11124993 __UNKNOWN__ IGR SNP A A G rs78739452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11124993A>G NA NA BAGE2 (26068 upstream) : AP003900.6 (44794 downstream) NA NA NA CAGCTTGTCAATACTGGAGGT 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11124993A>G NA hg19 0.02 -0.105275 TCAxTAC UNCOVERED NOVEL 0 0 2.708318 KEEP 0 0 0 9 288 AA 0.99254 0.138789 0 3 60 104 0 0 8.900858 9 60 320 22 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11125054 11125054 __UNKNOWN__ IGR SNP T T A rs150109375 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11125054T>A NA NA BAGE2 (26129 upstream) : AP003900.6 (44733 downstream) NA NA NA TATCACAAGGTTTCTTGATTA 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11125054T>A NA hg19 0.02 -0.307016 AGGxTTC COVERED NOVEL 0 2 4.746476 KEEP 0 1 32 27 807 TT 0.999997 0.800243 0 3 60 101 0 0 7.087702 32 60 1073 80 0.085714 0.800245 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11125566 11125566 __UNKNOWN__ IGR SNP G G A rs2257715 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11125566G>A NA NA BAGE2 (26641 upstream) : AP003900.6 (44221 downstream) NA NA NA atcagagatcgctccagcctt 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11125566G>A NA hg19 0.02 -0.122812 ATCxCTC COVERED NOVEL 0 14 2.742765 KEEP 1 1 31 20 665 GG 0.999863 0.196285 0 3 60 111 0 0 9.481722 10 60 347 46 0.230769 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11129740 11129740 __UNKNOWN__ IGR SNP G G A rs79069828 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11129740G>A NA NA BAGE2 (30815 upstream) : AP003900.6 (40047 downstream) NA NA NA ctgatgttcgggtttggggta 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11129740G>A NA hg19 0.02 -0.288963 TCGxGTT COVERED NOVEL 0 6 3.009802 KEEP 0 0 0 10 355 GG 0.992708 0.775364 0 3 60 102 0 0 7.768457 20 60 733 53 0.130435 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11129984 11129984 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11129984C>T NA NA BAGE2 (31059 upstream) : AP003900.6 (39803 downstream) NA NA NA ctcccgtgttcgagcaatcct 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11129984C>T NA hg19 0.02 -0.122816 GTTxGAG COVERED NOVEL 0 3 3.911845 KEEP 0 0 0 13 421 CC 0.994391 0.19521 0 2 60 71 0 0 6.395829 4 60 129 31 0.333333 0.196312 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11134652 11134652 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11134652G>T NA NA BAGE2 (35727 upstream) : AP003900.6 (35135 downstream) NA NA NA aattagccgggtgtggtggtg 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11134652G>T NA hg19 0.02 -0.298214 CGGxTGT UNCOVERED NOVEL 0 4 3.310454 KEEP 5 0 0 11 378 GG 0 0 0 4 60 121 0 0 9.100047 23 60 856 50 0.148148 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11140942 11140942 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11140942G>A NA NA BAGE2 (42017 upstream) : AP003900.6 (28845 downstream) NA NA NA TAGACAgactgggcgcggtgg 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11140942G>A NA hg19 0.02 -0.358323 ACTxGGC COVERED NOVEL 0 11 3.947713 KEEP 1 1 31 24 850 GG 0.999909 0.888795 0 4 60 131 0 0 9.617454 31 60 1121 81 0.114286 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11147462 11147462 __UNKNOWN__ IGR SNP C C T rs4913612 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11147462C>T NA NA BAGE2 (48537 upstream) : AP003900.6 (22325 downstream) NA NA NA agcaatcttcccacctcagcc 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11147462C>T NA hg19 0.02 -0.228101 TTCxCAC COVERED NOVEL 0 5 4.213749 KEEP 7 0 0 14 492 CC 0.993072 0.578892 0 3 57 110 0 0 8.448067 22 60 806 54 0.12 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11164151 11164151 __UNKNOWN__ IGR SNP C C T rs10433245 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11164151C>T NA NA BAGE2 (65226 upstream) : AP003900.6 (5636 downstream) NA NA NA aggctggtctcgaactcccaa 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11164151C>T NA hg19 0.02 -0.40353 TCTxGAA COVERED NOVEL 0 2 6.62086 KEEP 0 0 0 22 734 CC 0.999909 0.934407 0 5 51 182 0 0 13.874548 38 60 1340 88 0.116279 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 11168657 11168657 __UNKNOWN__ IGR SNP C C T rs201613109 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11168657C>T NA NA BAGE2 (69732 upstream) : AP003900.6 (1130 downstream) NA NA NA AGCCTCGCAGCCAGCATCCCC 0.736 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.11168657C>T NA hg19 0.02 -0.201786 CAGxCAG COVERED NOVEL 0 0 2.407741 KEEP 0 0 0 8 285 CC 0.99257 0.4869 0 4 60 146 0 0 11.978654 18 60 668 38 0.181818 0.490544 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11175446 11175446 __UNKNOWN__ lincRNA SNP T T C rs79552743 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11175446T>C ENST00000603265.1 + 0 231 NA NA NA Cggcccggcgtggtggctcac 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11175446T>C NA hg19 0.02 -0.263189 GCGxGGT COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 1 4.814331 KEEP 0 0 0 16 493 TT 0.997832 0.692164 0 + 3 60 103 0 0 7.497094 27 60 968 62 ENST00000603265.1 0.1 0.693668 AP003900.6 0 __UNKNOWN__ __UNKNOWN__ 21 11182670 11182670 __UNKNOWN__ lincRNA SNP T T A rs371050860 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:11182670T>A ENST00000603265.1 + 0 231 NA NA NA gtttgtgtttttagtagagac 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000603265.1: chr21.hg19:g.11182670T>A NA hg19 0.02 -0.210554 TTTxTAG COVERED NOVEL AP003900.6-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000469752.1 3 2.70848 KEEP 0 0 0 9 298 TT 0.99254 0.518266 0 + 3 60 116 0 0 9.163941 20 60 721 36 ENST00000603265.1 0.130435 0.522161 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14726399 14726399 __UNKNOWN__ IGR SNP A A G rs114673230 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14726399A>G NA NA RNU6-614P (306389 upstream) : AL050302.1 (15531 downstream) NA NA NA TACATGAGAGAGTCTTTGCCT 0.373 NA A||| 1852 0.369808 0.7005 0.2003 5008 , , NA 18344 0.4415 NA 0.1571 False NA ,,, NA NA NA 2504 0.1881 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14726399A>G NA hg19 0.02 9.041912 GAGxGTC COVERED NOVEL 0 2 4.814288 KEEP 1 0 0 16 500 AA 0.997832 0.997832 0 13 49 473 0 0 31.831606 216 50 8031 284 0.056769 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14756926 14756926 __UNKNOWN__ IGR SNP T T C rs41505545 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14756926T>C NA NA AL050302.1 (11540 upstream) : MIR3156-3 (21778 downstream) NA NA NA GCATTTTCTCTTAGATCATCT 0.353 NA T||| 208 0.0415335 0.0015 0.0274 5008 , , NA 20584 0.1766 NA 0.0 False NA ,,, NA NA NA 2504 0.0092 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14756926T>C NA hg19 0.02 14.700159 CTCxTAG COVERED NOVEL 0 0 11.435699 KEEP 26 0 0 38 1234 TT 0.999999 0.999999 0 22 49 827 0 0 58.346807 300 50 11138 451 0.068323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14780604 14780604 __UNKNOWN__ IGR SNP G G T rs3117279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14780604G>T NA NA MIR3156-3 (1823 upstream) : AP001465.5 (137749 downstream) NA NA NA TATTTTCTGAGTTAACATATA 0.308 NA .||| 722 0.144169 0.1475 0.0865 5008 , , NA 18825 0.2639 NA 0.0974 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14780604G>T NA hg19 0.02 2.217317 TGAxTTA UNCOVERED NOVEL 0 1 2.40792 KEEP 2 0 0 8 289 GG 0 0 0 5 49 191 0 0 13.831293 60 60 2312 90 0.076923 0.993703 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14886029 14886029 __UNKNOWN__ IGR SNP C C T rs2821907 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14886029C>T NA NA MIR3156-3 (107248 upstream) : AP001465.5 (32324 downstream) NA NA NA TGTGATGAACCAGATTTGCTC 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14886029C>T NA hg19 0.02 -0.166693 AACxAGA UNCOVERED NOVEL 0 1 2.407907 KEEP 25 0 0 8 287 CC 0 0 0 3 40 111 0 0 9.009456 15 45 564 64 0.166667 0.353947 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 14916664 14916664 __UNKNOWN__ IGR SNP A A G rs7275581 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14916664A>G NA NA MIR3156-3 (137883 upstream) : AP001465.5 (1689 downstream) NA NA NA AGGGTTTAAAATAGACGTGAA 0.403 NA A||| 749 0.149561 0.0295 0.085 5008 , , NA 21862 0.4315 NA 0.1123 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.14916664A>G NA hg19 0.02 14.114894 AAAxTAG COVERED NOVEL 0 3 10.822697 KEEP 117 0 0 36 1113 AA 0.999859 0.999859 0 9 49 349 0 0 21.528479 300 50 10896 505 0.029126 1 POTED 317754 __UNKNOWN__ __UNKNOWN__ 21 14982637 14982637 __UNKNOWN__ Missense_Mutation SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14982637C>G ENST00000299443.5 + 1 140 c.88C>G c.(88-90)Cac>Gac p.H30D NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 30 NA plasma membrane (GO:0005886) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GTGGTGCCACCACCGCTTCCC 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 1 1 1 NA NA 21 NA 14982637 83 635 718 SO:0001583 missense AY172978 CCDS13562.1 21q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000166351 ENSG00000166351 317754 POTE ankyrin domain containing, Ankyrin repeat domain containing 23822 protein-coding gene gene with protein product cancer/testis antigen family 104, member 1 607549 ankyrin repeat domain 21, ANKRD26-like family B, member 3 ANKRD21, A26B3 NA 12475935, 15276201, 16364570 Standard NM_174981 NM_174981 NA Approved POTE, POTE-21, POTE21, CT104.1 uc002yjb.1 Q86YR6 OTTHUMG00000074197 ENST00000299443.5:c.88C>G chr21.hg19:g.14982637C>G ENSP00000299443:p.His30Asp NA C9JCF7 hg19 CCDS13562.1 0.02 10.891646 CACxACC COVERED . . . . . . . . . . C 5.048 0.194622 0.09599 . . ENSG00000166351 ENST00000299443 T 0.30448 1.53 . . . . . . . . T 0.18964 0.0455 N 0.19112 0.55 0.09310 N 1 P 0.34662 0.462 B 0.36534 0.227 T 0.21999 -1.0229 7 0.87932 D 0 . . . . . 30 Q86YR6 POTED_HUMAN D 30 ENSP00000299443:H30D ENSP00000299443:H30D H + 1 0 POTED 13904508 0.000000 0.05858 0.049000 0.19019 0.021000 0.10359 -0.130000 0.10498 0.119000 0.18210 0.121000 0.15741 CAC NOVEL POTED-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157660.1 0 3.113968 KEEP 1 3 96 44 1510 CC 1 1 0 + 18 60 623 0 0 42.121317 254 60 9266 429 ENST00000299443.5 0.066176 1 POTED 317754 __UNKNOWN__ __UNKNOWN__ 21 14982777 14982777 __UNKNOWN__ Silent SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:14982777C>T ENST00000299443.5 + 1 280 c.228C>T c.(226-228)ggC>ggT p.G76G NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 76 NA plasma membrane (GO:0005886) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GGGGGAGCGGCACGAGCAACG 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 2 3 3 NA NA 21 NA 14982777 314 1732 2046 SO:0001819 synonymous_variant AY172978 CCDS13562.1 21q11.2 2013-01-10 2008-11-26 2008-11-26 ENSG00000166351 ENSG00000166351 317754 POTE ankyrin domain containing, Ankyrin repeat domain containing 23822 protein-coding gene gene with protein product cancer/testis antigen family 104, member 1 607549 ankyrin repeat domain 21, ANKRD26-like family B, member 3 ANKRD21, A26B3 NA 12475935, 15276201, 16364570 Standard NM_174981 NM_174981 NA Approved POTE, POTE-21, POTE21, CT104.1 uc002yjb.1 Q86YR6 OTTHUMG00000074197 ENST00000299443.5:c.228C>T chr21.hg19:g.14982777C>T NA C9JCF7 hg19 CCDS13562.1 0.02 3.98549 CGGxACG COVERED NOVEL POTED-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157660.1 2 5.116803 KEEP 2 0 0 17 613 CC 0.999366 0.999362 0 + 5 60 180 0 0 11.702387 98 60 3636 157 ENST00000299443.5 0.048544 0.999995 RBM11 54033 __UNKNOWN__ __UNKNOWN__ 21 15599144 15599144 __UNKNOWN__ Intron SNP T T C rs2822444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:15599144T>C ENST00000400577.3 + 5 441 RBM11_ENST00000468643.1_Intron NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 NA NA cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803) endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) AAACTGTTAATTTTTTTTCCT 0.348 NA .||| 2177 0.434704 0.3737 0.4582 5008 , , NA 21267 0.4107 NA 0.4364 False NA ,,, NA NA NA 2504 0.5235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF130358 CCDS46635.1 21q11 2013-02-12 ENSG00000185272 ENSG00000185272 54033 RNA binding motif (RRM) containing 9897 protein-coding gene gene with protein product NA 12036298 Standard NM_144770 NM_144770 NA Approved uc002yjo.4 P57052 OTTHUMG00000074263 ENST00000400577.3:c.433-57T>C chr21.hg19:g.15599144T>C NA Q6YNC2|Q8NBA1|Q8NFF6 hg19 CCDS46635.1 0.02 6.681111 TAAxTTT COVERED NOVEL RBM11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157818.1 0 6.618262 KEEP 0 0 0 22 648 TT 0.999879 0.999879 0 + 6 60 223 0 0 13.942146 161 60 5877 210 ENST00000400577.3 0.035928 1 RBM11 54033 __UNKNOWN__ __UNKNOWN__ 21 15599963 15599963 __UNKNOWN__ 3'UTR SNP A A G rs2822447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:15599963A>G ENST00000400577.3 + 0 1204 RBM11_ENST00000468643.1_3'UTR NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 NA NA cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803) endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) ATTATCCCCTATAACCAACAC 0.338 NA G||| 1676 0.334665 0.3707 0.3213 5008 , , NA 19904 0.376 NA 0.2505 False NA ,,, NA NA NA 2504 0.3395 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF130358 CCDS46635.1 21q11 2013-02-12 ENSG00000185272 ENSG00000185272 54033 RNA binding motif (RRM) containing 9897 protein-coding gene gene with protein product NA 12036298 Standard NM_144770 NM_144770 NA Approved uc002yjo.4 P57052 OTTHUMG00000074263 ENST00000400577.3:c.*349A>G chr21.hg19:g.15599963A>G NA Q6YNC2|Q8NBA1|Q8NFF6 hg19 CCDS46635.1 0.02 11.623237 CCTxTAA COVERED NOVEL RBM11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157818.1 0 9.929163 KEEP 0 0 0 33 1029 AA 0.999998 0.999998 0 + 11 60 419 0 0 27.298421 253 60 9200 342 ENST00000400577.3 0.041667 1 SAMSN1 64092 __UNKNOWN__ __UNKNOWN__ 21 15893567 15893567 __UNKNOWN__ Intron SNP A A T rs760344 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:15893567A>T ENST00000400566.1 - 2 139 SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Intron NM_022136.4 NP_071419.3 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 NA NA negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732) cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634) phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) AGAAAAAGCAAAGGAAACTTA 0.318 NA A||| 1006 0.200879 0.3079 0.0951 5008 , , NA 14388 0.2341 NA 0.162 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 A 1035,2555 153,729,913 19 18 18 1.2 0 21 dbSNP_86 18 1135,6969 75,985,2992 no intron SAMSN1 NM_022136.3 228,1714,3905 TT,TA,AA 14.0054,28.8301,18.5565 15893567 2170,9524 1795 4052 5847 SO:0001627 intron_variant AF222927 CCDS42906.1, CCDS58786.1, CCDS74774.1 21q11 2013-01-10 2006-12-13 ENSG00000155307 ENSG00000155307 64092 SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing 10528 protein-coding gene gene with protein product nuclear localization signals, SAM and SH3 domain containing 1, SAM and SH3 domain containing 2, hematopoietic adapter-containing SH3 and sterile α-motif (SAM) domains 1, Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2 607978 NA 11536050, 11594764 Standard NM_022136 NA Approved NASH1, SASH2, SH3D6B, HACS1, SLy2 uc002yjv.1 Q9NSI8 OTTHUMG00000074317 ENST00000400566.1:c.58-25T>A chr21.hg19:g.15893567A>T NA B3KWJ3|F8WAA1|Q8NFF7|Q9C041 hg19 CCDS42906.1 0.02 1.783244 GCAxAGG COVERED NOVEL SAMSN1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157914.1 0 6.017214 KEEP 0 0 0 20 601 AA 0.999863 0.996096 0 - 4 60 143 0 0 9.577702 65 60 2380 108 ENST00000400566.1 0.057971 0.996233 NRIP1 8204 __UNKNOWN__ __UNKNOWN__ 21 16335515 16335515 __UNKNOWN__ 3'UTR SNP C C T rs1041403 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:16335515C>T ENST00000400202.1 - 0 5711 AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_3'UTR|NRIP1_ENST00000318948.4_3'UTR P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 NA NA androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GAGTTTAGTGCCCTTCTTGGG 0.343 NA C||| 1586 0.316693 0.3722 0.3775 5008 , , NA 20444 0.2956 NA 0.3131 False NA ,,, NA NA NA 2504 0.2239 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X84373 CCDS13568.1 21q11.2 2008-07-31 ENSG00000180530 ENSG00000180530 8204 8001 protein-coding gene gene with protein product receptor interacting protein 140, nuclear factor RIP140 602490 NA 7641693, 9521594 Standard NM_003489 NM_003489 NA Approved RIP140 uc002yjx.2 P48552 OTTHUMG00000074323 ENST00000400202.1:c.*1522G>A chr21.hg19:g.16335515C>T NA Q8IWE8 hg19 CCDS13568.1 0.02 5.976979 GTGxCCT COVERED NOVEL NRIP1-002 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000157926.1 0 9.330078 KEEP 0 0 0 31 1093 CC 0.999997 0.999997 0 - 12 60 417 0 0 28.265019 169 60 6250 260 ENST00000400202.1 0.066298 1 CXADR 1525 __UNKNOWN__ __UNKNOWN__ 21 18938409 18938409 __UNKNOWN__ Intron SNP G G T rs10482888 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:18938409G>T ENST00000400169.1 + 7 1017 CXADR_ENST00000284878.7_3'UTR NM_001207066.1 NP_001193995.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor NA NA actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032) acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618) endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) TTATTTTTAGGATGTGTATTT 0.338 NA G||| 175 0.0349441 0.0008 0.0058 5008 , , NA 16166 0.1448 NA 0.0 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y07593 CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1 21q21.1 2013-01-29 ENSG00000154639 ENSG00000154639 1525 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2559 protein-coding gene gene with protein product 602621 NA 9036860, 9096397 Standard NM_001338 NA Approved CAR uc002yki.3 P78310 OTTHUMG00000074508 ENST00000400169.1:c.1017+480G>T chr21.hg19:g.18938409G>T NA B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4 hg19 CCDS56204.1 0.02 21.545072 TAGxATG COVERED NOVEL CXADR-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000158210.1 1 16.553953 KEEP 0 0 0 55 1934 GG 1 1 0 + 20 60 677 0 0 39.271548 576 60 21380 790 ENST00000400169.1 0.033557 1 CXADR 1525 __UNKNOWN__ __UNKNOWN__ 21 18939939 18939939 __UNKNOWN__ Intron SNP A A G rs2246193 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:18939939A>G ENST00000400169.1 + 7 1017 CXADR_ENST00000284878.7_3'UTR NM_001207066.1 NP_001193995.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor NA NA actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032) acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618) endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) AGAAATTTCAATATTCCCAAC 0.284 NA A||| 2186 0.436502 0.0507 0.5821 5008 , , NA 5607 0.5575 NA 0.6024 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y07593 CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1 21q21.1 2013-01-29 ENSG00000154639 ENSG00000154639 1525 Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 2559 protein-coding gene gene with protein product 602621 NA 9036860, 9096397 Standard NM_001338 NA Approved CAR uc002yki.3 P78310 OTTHUMG00000074508 ENST00000400169.1:c.1017+2010A>G chr21.hg19:g.18939939A>G NA B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4 hg19 CCDS56204.1 0.02 16.816176 TCAxTAT COVERED NOVEL CXADR-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000158210.1 1 11.734058 KEEP 0 0 0 39 1218 AA 1 1 0 + 10 60 381 0 0 23.124335 343 60 12817 487 ENST00000400169.1 0.028329 1 C21orf91 54149 __UNKNOWN__ __UNKNOWN__ 21 19163707 19163707 __UNKNOWN__ 3'UTR SNP C C T rs7277763 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19163707C>T ENST00000284881.4 - 0 3009 C21orf91-OT1_ENST00000430815.1_lincRNA NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 chromosome 21 open reading frame 91 NA NA endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) TACTCATTAGCAAAGCTATGT 0.358 NA T||| 1995 0.398363 0.5507 0.3991 5008 , , NA 19759 0.4841 NA 0.2425 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF239726 CCDS42907.1, CCDS42908.1, CCDS42909.1 21q21.1 2011-12-12 2003-07-22 ENSG00000154642 ENSG00000154642 54149 16459 protein-coding gene gene with protein product cold sore susceptibility gene 1, early undifferentiated retina and lens chromosome 21 open reading frame 38 C21orf38, C21orf14 NA 22039568 Standard NM_017447 NM_001100421 NA Approved YG81, EURL, CSSG1 uc002yko.4 Q9NYK6 OTTHUMG00000074509 ENST00000284881.4:c.*2025G>A chr21.hg19:g.19163707C>T NA hg19 CCDS42907.1 0.02 10.712197 TAGxAAA COVERED NOVEL C21orf91-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158215.1 3 14.146016 KEEP 0 0 0 47 1678 CC 1 1 0 - 14 60 504 0 0 33.584092 239 60 9103 353 ENST00000284881.4 0.055336 1 C21orf91 54149 __UNKNOWN__ __UNKNOWN__ 21 19163805 19163805 __UNKNOWN__ 3'UTR SNP T T C rs2257907 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19163805T>C ENST00000284881.4 - 0 2911 C21orf91-OT1_ENST00000430815.1_lincRNA NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 chromosome 21 open reading frame 91 NA NA endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) TATGCTACTATTGATATCAAA 0.363 NA C||| 1996 0.398562 0.5507 0.3991 5008 , , NA 19200 0.4841 NA 0.2435 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF239726 CCDS42907.1, CCDS42908.1, CCDS42909.1 21q21.1 2011-12-12 2003-07-22 ENSG00000154642 ENSG00000154642 54149 16459 protein-coding gene gene with protein product cold sore susceptibility gene 1, early undifferentiated retina and lens chromosome 21 open reading frame 38 C21orf38, C21orf14 NA 22039568 Standard NM_017447 NM_001100421 NA Approved YG81, EURL, CSSG1 uc002yko.4 Q9NYK6 OTTHUMG00000074509 ENST00000284881.4:c.*1927A>G chr21.hg19:g.19163805T>C NA hg19 CCDS42907.1 0.02 15.583159 CTAxTGA COVERED NOVEL C21orf91-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158215.1 3 17.750837 KEEP 0 0 0 59 1854 TT 1 1 0 - 27 60 1029 0 0 76.331728 274 60 10034 429 ENST00000284881.4 0.089701 1 C21orf91 54149 __UNKNOWN__ __UNKNOWN__ 21 19164642 19164642 __UNKNOWN__ 3'UTR SNP A A G rs1062202 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19164642A>G ENST00000284881.4 - 0 2074 C21orf91-OT1_ENST00000430815.1_lincRNA NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 chromosome 21 open reading frame 91 NA NA endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) CTTCTGTAGAACAATCCTATA 0.299 NA G||| 1927 0.384784 0.5492 0.3991 5008 , , NA 17176 0.4196 NA 0.2425 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF239726 CCDS42907.1, CCDS42908.1, CCDS42909.1 21q21.1 2011-12-12 2003-07-22 ENSG00000154642 ENSG00000154642 54149 16459 protein-coding gene gene with protein product cold sore susceptibility gene 1, early undifferentiated retina and lens chromosome 21 open reading frame 38 C21orf38, C21orf14 NA 22039568 Standard NM_017447 NM_001100421 NA Approved YG81, EURL, CSSG1 uc002yko.4 Q9NYK6 OTTHUMG00000074509 ENST00000284881.4:c.*1090T>C chr21.hg19:g.19164642A>G NA hg19 CCDS42907.1 0.02 7.347942 AGAxCAA COVERED NOVEL C21orf91-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158215.1 3 7.823064 KEEP 0 0 0 26 811 AA 0.999957 0.999957 0 - 10 60 385 0 0 26.405242 174 60 6152 244 ENST00000284881.4 0.054348 1 C21orf91 54149 __UNKNOWN__ __UNKNOWN__ 21 19164911 19164911 __UNKNOWN__ 3'UTR SNP C C T rs2220511 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19164911C>T ENST00000284881.4 - 0 1805 NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 chromosome 21 open reading frame 91 NA NA endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) ATCACAGTCACTGGTGTGAAG 0.363 NA T||| 1882 0.375799 0.5159 0.3977 5008 , , NA 15876 0.4196 NA 0.2416 False NA ,,, NA NA NA 2504 0.2638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF239726 CCDS42907.1, CCDS42908.1, CCDS42909.1 21q21.1 2011-12-12 2003-07-22 ENSG00000154642 ENSG00000154642 54149 16459 protein-coding gene gene with protein product cold sore susceptibility gene 1, early undifferentiated retina and lens chromosome 21 open reading frame 38 C21orf38, C21orf14 NA 22039568 Standard NM_017447 NM_001100421 NA Approved YG81, EURL, CSSG1 uc002yko.4 Q9NYK6 OTTHUMG00000074509 ENST00000284881.4:c.*821G>A chr21.hg19:g.19164911C>T NA hg19 CCDS42907.1 0.02 6.624544 TCAxTGG COVERED NOVEL C21orf91-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000158215.1 2 17.15521 KEEP 0 0 0 57 2008 CC 1 1 0 - 13 60 475 0 0 33.979413 151 60 5702 258 ENST00000284881.4 0.079268 1 C21orf91 54149 __UNKNOWN__ __UNKNOWN__ 21 19167479 19167479 __UNKNOWN__ Intron SNP T T C rs2258119 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19167479T>C ENST00000400558.3 - 3 755 AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Intron|C21orf91_ENST00000400559.3_Intron NM_001100421.1 NP_001093891.1 chromosome 21 open reading frame 91 NA NA endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) TGATTTTCTATGTCAAAATTT 0.358 NA T||| 1414 0.282348 0.3336 0.2594 5008 , , NA 16093 0.3988 NA 0.1948 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 T ,, 1147,2521 176,795,863 75 68 70 ,, -1.8 0 21 dbSNP_100 70 1659,6519 164,1331,2594 no intron,intron,intron C21orf91 NM_001100420.1,NM_001100421.1,NM_017447.3 ,, 340,2126,3457 CC,CT,TT 20.2861,31.2704,23.6873 ,, ,, 19167479 2806,9040 1834 4089 5923 SO:0001627 intron_variant AF239726 CCDS42907.1, CCDS42908.1, CCDS42909.1 21q21.1 2011-12-12 2003-07-22 ENSG00000154642 ENSG00000154642 54149 16459 protein-coding gene gene with protein product cold sore susceptibility gene 1, early undifferentiated retina and lens chromosome 21 open reading frame 38 C21orf38, C21orf14 NA 22039568 Standard NM_017447 NM_001100421 NA Approved YG81, EURL, CSSG1 uc002yko.4 Q9NYK6 OTTHUMG00000074509 ENST00000400558.3:c.663+1419A>G chr21.hg19:g.19167479T>C NA hg19 CCDS42909.1 0.02 1.77223 CTAxGTC COVERED NOVEL C21orf91-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000158214.1 0 6.91988 KEEP 0 0 0 23 697 TT 0.999892 0.999787 0 - 5 60 177 0 0 11.629912 88 60 3254 130 ENST00000400558.3 0.053763 0.999895 C21orf91 54149 __UNKNOWN__ __UNKNOWN__ 21 19169218 19169218 __UNKNOWN__ Missense_Mutation SNP G G C rs2824495 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19169218G>C ENST00000400558.3 - 3 435 c.345C>G c.(343-345)aaC>aaG p.N115K AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Missense_Mutation_p.N115K|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Missense_Mutation_p.N115K NM_001100421.1 NP_001093891.1 chromosome 21 open reading frame 91 NA NA endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) GATGCTGGGGGTTTTTAGAAC 0.353 NA G||| 1225 0.244609 0.2027 0.2435 5008 , , NA 18011 0.3978 NA 0.1918 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 G LYS/ASN,LYS/ASN,LYS/ASN 777,2847 70,637,1105 104 95 98 345,345,345 0.9 0.2 21 dbSNP_100 98 1655,6523 164,1327,2598 yes missense,missense,missense C21orf91 NM_001100420.1,NM_001100421.1,NM_017447.3 94,94,94 234,1964,3703 CC,CG,GG 20.2372,21.4404,20.6067 benign,benign,benign 115/298,115/222,115/297 19169218 2432,9370 1812 4089 5901 SO:0001583 missense AF239726 CCDS42907.1, CCDS42908.1, CCDS42909.1 21q21.1 2011-12-12 2003-07-22 ENSG00000154642 ENSG00000154642 54149 16459 protein-coding gene gene with protein product cold sore susceptibility gene 1, early undifferentiated retina and lens chromosome 21 open reading frame 38 C21orf38, C21orf14 NA 22039568 Standard NM_017447 NM_001100421 NA Approved YG81, EURL, CSSG1 uc002yko.4 Q9NYK6 OTTHUMG00000074509 ENST00000400558.3:c.345C>G chr21.hg19:g.19169218G>C ENSP00000383403:p.Asn115Lys NA hg19 CCDS42909.1 0.02 11.637421 GGGxTTT COVERED 552 0.25274725274725274 103 0.20934959349593496 81 0.22375690607734808 216 0.3776223776223776 152 0.20052770448548812 G 1.977 -0.435132 0.04669 0.214404 0.202372 ENSG00000154642 ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964 T;T;T;T 0.13196 2.61;2.61;2.61;2.61 5.42 0.945 0.19543 . 0.742572 0.13586 N 0.376982 T 0.00012 0.0000 L 0.40543 1.245 0.80722 P 0.0 B;B 0.06786 0.001;0.001 B;B 0.06405 0.001;0.002 T 0.47142 -0.9140 8 . . . -3.4099 4.9795 0.14157 0.6044:0.0:0.2421:0.1535 rs2824495;rs52814372;rs58817251;rs2824495 115;115 Q9NYK6-3;Q9NYK6 .;EURL_HUMAN K 115 ENSP00000284881:N115K;ENSP00000383404:N115K;ENSP00000383403:N115K;ENSP00000385566:N115K . N - 3 2 C21orf91 18091089 0.000000 0.05858 0.155000 0.22561 0.076000 0.17211 0.565000 0.23578 0.020000 0.15106 0.650000 0.86243 AAC NOVEL C21orf91-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000158214.1 1 17.455825 KEEP 0 0 0 58 2014 GG 1 1 0 - 16 60 600 0 0 40.880411 269 60 10009 402 ENST00000400558.3 0.05614 1 TMPRSS15 5651 __UNKNOWN__ __UNKNOWN__ 21 19685405 19685405 __UNKNOWN__ Intron SNP A A G rs7281534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:19685405A>G ENST00000284885.3 - 18 2066 NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 NA NA brush border (GO:0005903)|integral component of membrane (GO:0016021) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ctaaagacacagagagcataa 0.438 NA G||| 1691 0.33766 0.2648 0.3804 5008 , , NA 14302 0.3641 NA 0.3519 False NA ,,, NA NA NA 2504 0.364 NA NA NA NA 0 G 1238,3168 705.0+/-407.2 183,872,1148 91 79 83 -1.5 0 21 dbSNP_116 83 3128,5472 657.4+/-401.5 569,1990,1741 no intron TMPRSS15 NM_002772.2 752,2862,2889 GG,GA,AA 36.3721,28.098,33.5691 19685405 4366,8640 2203 4300 6503 SO:0001627 intron_variant CCDS13571.1 21q21 2010-12-09 2010-04-21 2010-04-21 ENSG00000154646 ENSG00000154646 5651 Serine peptidases / Transmembrane 9490 protein-coding gene gene with protein product proenterokinase, enteropeptidase 606635 protease, serine, 7 (enterokinase) PRSS7 NA 8052624 Standard NM_002772 NM_002772 NA Approved ENTK, MGC133046 uc002ykw.3 P98073 OTTHUMG00000074518 ENST00000284885.3:c.2033-11T>C chr21.hg19:g.19685405A>G NA Q2NKL7 hg19 CCDS13571.1 0.02 6.508 CACxGAG COVERED NOVEL TMPRSS15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000158231.2 0 6.017401 KEEP 0 0 0 20 615 AA 0.999863 0.999863 0 - 6 60 214 0 0 13.062825 160 60 5966 206 ENST00000284885.3 0.036145 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 20230168 20230168 __UNKNOWN__ IGR SNP G G A rs386816807|rs2825213 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:20230168G>A NA NA AL109763.2 (97847 upstream) : AL157359.4 (60083 downstream) NA NA NA CCTTTGAGCTGTTTGCAGACA 0.512 NA G||| 2805 0.560104 0.6997 0.598 5008 , , NA 19122 0.6131 NA 0.4085 False NA ,,, NA NA NA 2504 0.4458 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.20230168G>A NA hg19 0.02 3.647402 GCTxTTT COVERED NOVEL 0 0 4.549907 KEEP 3 1 31 26 945 GG 0.999957 0.999957 0 5 60 175 0 0 10.724937 123 60 4606 197 0.039062 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 20230169 20230169 __UNKNOWN__ IGR SNP T T C rs1987324|rs386816807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:20230169T>C NA NA AL109763.2 (97848 upstream) : AL157359.4 (60082 downstream) NA NA NA CTTTGAGCTGTTTGCAGACAA 0.512 NA T||| 725 0.144768 0.261 0.0778 5008 , , NA 19068 0.246 NA 0.0477 False NA ,,, NA NA NA 2504 0.0307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.20230169T>C NA hg19 0.02 4.144854 CTGxTTG COVERED NOVEL 0 0 8.125118 KEEP 3 0 0 27 877 TT 0.999957 0.999957 0 5 60 191 0 0 12.320164 123 60 4309 198 0.039062 1 NCAM2 4685 __UNKNOWN__ __UNKNOWN__ 21 22746187 22746187 __UNKNOWN__ Missense_Mutation SNP T T C rs232518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:22746187T>C ENST00000400546.1 + 9 1298 c.1049T>C c.(1048-1050)cTg>cCg p.L350P NCAM2_ENST00000535285.1_Missense_Mutation_p.L375P|NCAM2_ENST00000284894.7_Missense_Mutation_p.L208P NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 350 Ig-like C2-type 4. NA L -> P (in dbSNP:rs232518). {ECO:0000269|PubMed:9226371}. axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608) axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAACAGAGCCTGGACGGCCGT 0.408 NA C||| 1952 0.389776 0.3782 0.2939 5008 , , NA 16709 0.5804 NA 0.3539 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 C PRO/LEU 1402,2394 248,906,744 108 101 104 1049 4.5 1 21 dbSNP_79 104 2886,5338 504,1878,1730 yes missense NCAM2 NM_004540.3 98 752,2784,2474 CC,CT,TT 35.0924,36.9336,35.6739 benign 350/838 22746187 4288,7732 1898 4112 6010 SO:0001583 missense CCDS42910.1 21q21 2013-02-11 ENSG00000154654 ENSG00000154654 4685 Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing 7657 protein-coding gene gene with protein product 602040 NA 9226371 Standard NM_004540 NM_004540 NA Approved NCAM21, MGC51008 uc002yld.2 O15394 OTTHUMG00000078121 ENST00000400546.1:c.1049T>C chr21.hg19:g.22746187T>C ENSP00000383392:p.Leu350Pro NA A8MQ06|B7Z841|Q7Z7F2 hg19 CCDS42910.1 0.02 12.900307 GCCxGGA COVERED 868 0.3974358974358974 179 0.3638211382113821 112 0.30939226519337015 302 0.527972027972028 275 0.3627968337730871 C 10.94 1.491592 0.26774 0.369336 0.350924 ENSG00000154654 ENST00000400546;ENST00000284894;ENST00000535285 T;T;T 0.64803 1.5;1.5;-0.12 5.43 4.54 0.55810 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.238190 0.44688 N 0.000432 T 0.00012 0.0000 N 0.04655 -0.195 0.30244 P 0.7947569999999999 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.0 T 0.46789 -0.9166 9 0.30854 T 0.27 -3.5509 6.1798 0.20465 0.1491:0.6938:0.0:0.1571 rs232518;rs17203863;rs59322715;rs232518 375;350 B7Z841;O15394 .;NCAM2_HUMAN P 350;208;375 ENSP00000383392:L350P;ENSP00000284894:L208P;ENSP00000441887:L375P ENSP00000284894:L208P L + 2 0 NCAM2 21668058 0.994000 0.37717 0.984000 0.44739 0.776000 0.43924 1.490000 0.35573 0.679000 0.31345 -0.133000 0.14855 CTG NOVEL NCAM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000170915.1 1 12.336611 KEEP 0 0 0 41 1285 TT 1 1 0 + 20 60 715 0 0 48.823592 291 60 10733 416 ENST00000400546.1 0.064309 1 N6AMT1 29104 __UNKNOWN__ __UNKNOWN__ 21 30245239 30245239 __UNKNOWN__ 3'UTR SNP T T C rs2065266 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30245239T>C ENST00000303775.5 - 0 4138 N6AMT1_ENST00000351429.3_3'UTR NM_013240.4 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 (putative) NA NA positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479) protein complex (GO:0043234) nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 atgcaaatcttgtctgtaaac 0.398 NA C||| 3238 0.646565 0.8812 0.5533 5008 , , NA 20807 0.8234 NA 0.4145 False NA ,,, NA NA NA 2504 0.4519 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF139682 CCDS33525.1, CCDS33526.1 21q21.3 2006-12-14 2006-12-14 2006-12-14 ENSG00000156239 ENSG00000156239 29104 2.1.1.72 16021 protein-coding gene gene with protein product 614553 chromosome 21 open reading frame 127, HemK methyltransferase family member 2 C21orf127, HEMK2 NA Standard NM_013240 NM_013240 NA Approved PRED28, N6AMT, MTQ2 uc002ymo.2 Q9Y5N5 OTTHUMG00000078750 ENST00000303775.5:c.*3468A>G chr21.hg19:g.30245239T>C NA Q96F73 hg19 CCDS33526.1 0.02 2.009022 TCTxGTC COVERED NOVEL N6AMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171738.1 0 3.308402 KEEP 0 0 0 11 324 TT 0.993072 0.987533 0 - 4 60 141 0 0 9.457942 62 60 2256 98 ENST00000303775.5 0.060606 0.994422 N6AMT1 29104 __UNKNOWN__ __UNKNOWN__ 21 30246568 30246568 __UNKNOWN__ 3'UTR SNP T T C rs117033415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30246568T>C ENST00000303775.5 - 0 2809 N6AMT1_ENST00000351429.3_3'UTR NM_013240.4 NP_037372 Q9Y5N5 HEMK2_HUMAN N-6 adenine-specific DNA methyltransferase 1 (putative) NA NA positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479) protein complex (GO:0043234) nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2) 12 accatggtcatagatgagaca 0.438 NA T||| 83 0.0165735 0.0023 0.0029 5008 , , NA 24899 0.0754 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF139682 CCDS33525.1, CCDS33526.1 21q21.3 2006-12-14 2006-12-14 2006-12-14 ENSG00000156239 ENSG00000156239 29104 2.1.1.72 16021 protein-coding gene gene with protein product 614553 chromosome 21 open reading frame 127, HemK methyltransferase family member 2 C21orf127, HEMK2 NA Standard NM_013240 NM_013240 NA Approved PRED28, N6AMT, MTQ2 uc002ymo.2 Q9Y5N5 OTTHUMG00000078750 ENST00000303775.5:c.*2139A>G chr21.hg19:g.30246568T>C NA Q96F73 hg19 CCDS33526.1 0.02 4.904417 TCAxAGA COVERED NOVEL N6AMT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171738.1 2 3.008693 KEEP 0 0 0 10 301 TT 0.992708 0.992707 0 - 6 60 230 0 0 15.478106 116 60 4174 147 ENST00000303775.5 0.04918 0.999999 LTN1 26046 __UNKNOWN__ __UNKNOWN__ 21 30339120 30339120 __UNKNOWN__ Missense_Mutation SNP C C A rs34191159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30339120C>A ENST00000389195.2 - 10 1836 c.1831G>T c.(1831-1833)Ggc>Tgc p.G611C LTN1_ENST00000389194.2_Missense_Mutation_p.G611C|LTN1_ENST00000361371.5_Missense_Mutation_p.G565C O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 565 NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AATTCCCAGCCTTCAATCTTC 0.353 NA C||| 970 0.19369 0.087 0.255 5008 , , NA 20229 0.3849 NA 0.1779 False NA ,,, NA NA NA 2504 0.1135 NA NA NA NA 0 C CYS/GLY 422,3984 205.8+/-227.6 20,382,1801 60 55 57 1831 2 0 21 dbSNP_126 57 1351,7249 262.1+/-284.2 110,1131,3059 yes missense LTN1 NM_015565.2 159 130,1513,4860 AA,AC,CC 15.7093,9.5778,13.6322 probably-damaging 611/1813 30339120 1773,11233 2203 4300 6503 SO:0001583 missense AK001915 CCDS33527.1, CCDS33527.2 21q21.3 2013-01-09 2010-09-17 2010-09-17 ENSG00000198862 ENSG00000198862 26046 RING-type (C3HC4) zinc fingers 13082 protein-coding gene gene with protein product listerin 613083 chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160 C21orf98, C21orf10, ZNF294, RNF160 NA 20835226, 19196968 Standard NM_015565 NM_015565 NA Approved KIAA0714, FLJ11053, LISTERIN uc002ymr.2 O94822 OTTHUMG00000078803 ENST00000389195.2:c.1831G>T chr21.hg19:g.30339120C>A ENSP00000373847:p.Gly611Cys NA A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9 hg19 0.02 6.053596 AGCxTTC COVERED 505 0.23122710622710624 49 0.09959349593495935 86 0.23756906077348067 233 0.40734265734265734 137 0.18073878627968337 C 9.941 1.217596 0.22373 0.095778 0.157093 ENSG00000198862 ENST00000389194;ENST00000361371;ENST00000389195 T;T;T 0.25414 2.15;2.16;1.8 4.75 1.97 0.26223 . 0.980624 0.08386 N 0.953805 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 D 0.69078 0.997 P 0.55667 0.781 T 0.47812 -0.9088 9 0.48119 T 0.1 . 6.5089 0.22210 0.0:0.7009:0.0:0.2991 rs34191159 565 O94822 LTN1_HUMAN C 611;565;611 ENSP00000373846:G611C;ENSP00000354977:G565C;ENSP00000373847:G611C ENSP00000354977:G565C G - 1 0 LTN1 29260991 0.010000 0.17322 0.002000 0.10522 0.002000 0.02628 0.745000 0.26259 0.318000 0.23185 -0.145000 0.13849 GGC NOVEL LTN1-002 PUTATIVE non_canonical_conserved|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171852.1 2 9.932889 KEEP 0 0 0 33 1217 CC 0.999998 0.999998 0 - 8 60 297 0 0 19.025194 187 60 6936 262 ENST00000389195.2 0.041026 1 LTN1 26046 __UNKNOWN__ __UNKNOWN__ 21 30339234 30339234 __UNKNOWN__ Missense_Mutation SNP T T C rs61735768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30339234T>C ENST00000389195.2 - 10 1722 c.1717A>G c.(1717-1719)Agc>Ggc p.S573G LTN1_ENST00000389194.2_Missense_Mutation_p.S573G|LTN1_ENST00000361371.5_Missense_Mutation_p.S527G O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 527 NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) p.S527G(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TTCAATGAGCTCTTCGGCTTC 0.383 NA T||| 769 0.153554 0.0424 0.2233 5008 , , NA 17681 0.3839 NA 0.1233 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 1 Substitution - Missense(1) stomach(1) T GLY/SER 278,4128 154.4+/-187.8 14,250,1939 76 72 73 1717 4.8 0.5 21 dbSNP_129 73 978,7622 211.3+/-251.9 55,868,3377 yes missense LTN1 NM_015565.2 56 69,1118,5316 CC,CT,TT 11.3721,6.3096,9.6571 benign 573/1813 30339234 1256,11750 2203 4300 6503 SO:0001583 missense AK001915 CCDS33527.1, CCDS33527.2 21q21.3 2013-01-09 2010-09-17 2010-09-17 ENSG00000198862 ENSG00000198862 26046 RING-type (C3HC4) zinc fingers 13082 protein-coding gene gene with protein product listerin 613083 chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160 C21orf98, C21orf10, ZNF294, RNF160 NA 20835226, 19196968 Standard NM_015565 NM_015565 NA Approved KIAA0714, FLJ11053, LISTERIN uc002ymr.2 O94822 OTTHUMG00000078803 ENST00000389195.2:c.1717A>G chr21.hg19:g.30339234T>C ENSP00000373847:p.Ser573Gly NA A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9 hg19 0.02 18.5218 AGCxCTT COVERED 427 0.1955128205128205 21 0.042682926829268296 74 0.20441988950276244 233 0.40734265734265734 99 0.13060686015831136 T 12.03 1.814859 0.32053 0.063096 0.113721 ENSG00000198862 ENST00000389194;ENST00000361371;ENST00000389195 T;T;T 0.24723 2.18;2.19;1.84 4.83 4.83 0.62350 Armadillo-type fold (1); 0.304482 0.38164 N 0.001788 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.04013 0.001 T 0.40887 -0.9539 9 0.62326 D 0.03 . 10.1603 0.42847 0.1487:0.0:0.0:0.8513 . 527 O94822 LTN1_HUMAN G 573;527;573 ENSP00000373846:S573G;ENSP00000354977:S527G;ENSP00000373847:S573G ENSP00000354977:S527G S - 1 0 LTN1 29261105 0.005000 0.15991 0.478000 0.27316 0.651000 0.38670 1.358000 0.34102 2.145000 0.66743 0.528000 0.53228 AGC NOVEL LTN1-002 PUTATIVE non_canonical_conserved|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171852.1 3 18.653346 KEEP 0 0 0 62 1891 TT 1 1 0 - 26 60 952 0 0 65.001498 404 60 14563 593 ENST00000389195.2 0.060465 1 LTN1 26046 __UNKNOWN__ __UNKNOWN__ 21 30341891 30341891 __UNKNOWN__ Missense_Mutation SNP A A G rs2254796 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30341891A>G ENST00000389195.2 - 9 1351 c.1346T>C c.(1345-1347)tTa>tCa p.L449S LTN1_ENST00000389194.2_Missense_Mutation_p.L449S|LTN1_ENST00000361371.5_Missense_Mutation_p.L403S O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 403 NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 CGAGGACTCTAAAGAGCTGGT 0.343 NA G||| 3599 0.71865 0.8631 0.6614 5008 , , NA 15657 0.8333 NA 0.6024 False NA ,,, NA NA NA 2504 0.5654 NA NA NA NA 0 G SER/LEU 3576,828 326.7+/-299.7 1459,658,85 70 72 71 1346 4.9 1 21 dbSNP_100 71 4751,3849 540.6+/-383.8 1318,2115,867 yes missense LTN1 NM_015565.2 145 2777,2773,952 GG,GA,AA 44.7558,18.8011,35.9659 benign 449/1813 30341891 8327,4677 2202 4300 6502 SO:0001583 missense AK001915 CCDS33527.1, CCDS33527.2 21q21.3 2013-01-09 2010-09-17 2010-09-17 ENSG00000198862 ENSG00000198862 26046 RING-type (C3HC4) zinc fingers 13082 protein-coding gene gene with protein product listerin 613083 chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160 C21orf98, C21orf10, ZNF294, RNF160 NA 20835226, 19196968 Standard NM_015565 NM_015565 NA Approved KIAA0714, FLJ11053, LISTERIN uc002ymr.2 O94822 OTTHUMG00000078803 ENST00000389195.2:c.1346T>C chr21.hg19:g.30341891A>G ENSP00000373847:p.Leu449Ser NA A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9 hg19 0.02 2.297688 TCTxAAG COVERED 1594 0.7298534798534798 419 0.8516260162601627 251 0.6933701657458563 477 0.833916083916084 447 0.5897097625329816 G 1.147 -0.647937 0.03506 0.811989 0.552442 ENSG00000198862 ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195 T;T;T 0.64438 3.73;3.73;-0.1 4.91 4.91 0.64330 Armadillo-type fold (1); 0.077470 0.53938 N 0.000041 T 0.00012 0.0000 N 0.00621 -1.32 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.39272 -0.9622 9 0.02654 T 1 . 11.0688 0.47991 0.0873:0.0:0.9127:0.0 rs2254796;rs52795528;rs61451660;rs2254796 403 O94822 LTN1_HUMAN S 449;403;405;449 ENSP00000373846:L449S;ENSP00000354977:L403S;ENSP00000373847:L449S ENSP00000354977:L403S L - 2 0 LTN1 29263762 1.000000 0.71417 0.993000 0.49108 0.345000 0.29048 4.344000 0.59354 1.456000 0.47831 -0.119000 0.15052 TTA NOVEL LTN1-002 PUTATIVE non_canonical_conserved|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171852.1 1 3.643505 KEEP 0 1 34 24 698 AA 0.999931 0.999766 0 - 5 60 191 0 0 13.101189 85 60 3032 129 ENST00000389195.2 0.055556 0.999835 LTN1 26046 __UNKNOWN__ __UNKNOWN__ 21 30354610 30354610 __UNKNOWN__ Intron SNP T T C rs2832150 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30354610T>C ENST00000389195.2 - 5 773 LTN1_ENST00000389194.2_Intron|LTN1_ENST00000361371.5_Intron O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 NA NA protein ubiquitination (GO:0016567) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 ATCCTTAACATGAGTTACAAT 0.378 NA T||| 768 0.153355 0.0424 0.2233 5008 , , NA 19653 0.3829 NA 0.1233 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 T 278,4128 155.2+/-188.4 14,250,1939 78 76 76 1.3 0 21 dbSNP_100 76 979,7621 212.2+/-252.6 55,869,3376 no intron LTN1 NM_015565.2 69,1119,5315 CC,CT,TT 11.3837,6.3096,9.6648 30354610 1257,11749 2203 4300 6503 SO:0001627 intron_variant AK001915 CCDS33527.1, CCDS33527.2 21q21.3 2013-01-09 2010-09-17 2010-09-17 ENSG00000198862 ENSG00000198862 26046 RING-type (C3HC4) zinc fingers 13082 protein-coding gene gene with protein product listerin 613083 chromosome 21 open reading frame 98, zinc finger protein 294, ring finger protein 160 C21orf98, C21orf10, ZNF294, RNF160 NA 20835226, 19196968 Standard NM_015565 NM_015565 NA Approved KIAA0714, FLJ11053, LISTERIN uc002ymr.2 O94822 OTTHUMG00000078803 ENST00000389195.2:c.767+27A>G chr21.hg19:g.30354610T>C NA A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9 hg19 0.02 2.01899 ACAxGAG COVERED NOVEL LTN1-002 PUTATIVE non_canonical_conserved|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000171852.1 0 5.413039 KEEP 0 0 0 18 504 TT 0.999859 0.999815 0 - 7 60 248 0 0 17.160226 92 60 3344 127 ENST00000389195.2 0.070707 0.999956 RWDD2B 10069 __UNKNOWN__ __UNKNOWN__ 21 30378938 30378938 __UNKNOWN__ Missense_Mutation SNP G G A rs77085757 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30378938G>A ENST00000493196.1 - 5 860 c.760C>T c.(760-762)Cgc>Tgc p.R254C RWDD2B_ENST00000486719.1_5'UTR NM_016940.2 NP_058636.1 P57060 RWD2B_HUMAN RWD domain containing 2B 254 NA endometrium(1)|kidney(1)|large_intestine(8)|lung(2) 12 TCTCGATGGCGAATTAAAATT 0.303 NA G||| 62 0.0123802 0.0 0.0 5008 , , NA 19565 0.0605 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 G CYS/ARG 11,4395 17.9+/-39.9 0,11,2192 61 56 58 760 3.7 0.9 21 dbSNP_131 58 0,8600 0,0,4300 yes missense RWDD2B NM_016940.2 180 0,11,6492 AA,AG,GG 0.0,0.2497,0.0846 possibly-damaging 254/320 30378938 11,12995 2203 4300 6503 SO:0001583 missense AF212232 CCDS13582.1 21q22.11 2012-12-07 2007-07-17 2007-07-17 ENSG00000156253 ENSG00000156253 10069 1302 protein-coding gene gene with protein product chromosome 21 open reading frame 6 C21orf6 NA 10729227 Standard NM_016940 NA Approved GL011 uc002yms.3 P57060 OTTHUMG00000078805 ENST00000493196.1:c.760C>T chr21.hg19:g.30378938G>A ENSP00000418693:p.Arg254Cys NA hg19 CCDS13582.1 0.02 8.429082 GGCxAAT COVERED 36 0.016483516483516484 0 0.0 0 0.0 36 0.06293706293706294 0 0.0 G 13.76 2.334498 0.41297 0.002497 0.0 ENSG00000156253 ENST00000493196 . . . 5.45 3.65 0.41850 Domain of unknown function DUF1115 (1); 0.162838 0.56097 N 0.000026 T 0.33059 0.0850 M 0.89840 3.065 0.58432 D 0.99999 D;B 0.62365 0.991;0.26 P;B 0.57425 0.82;0.049 T 0.67158 -0.5741 9 0.66056 D 0.02 -15.0736 12.0829 0.53682 0.1385:0.0:0.8615:0.0 . 254;254 Q53FD2;P57060 .;RWD2B_HUMAN C 254 . ENSP00000418693:R254C R - 1 0 RWDD2B 29300809 1.000000 0.71417 0.904000 0.35570 0.556000 0.35491 7.339000 0.79282 0.865000 0.35603 -0.157000 0.13467 CGC NOVEL RWDD2B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171858.1 3 17.755679 KEEP 0 0 0 59 1968 GG 1 1 0 - 8 60 295 0 0 18.599654 200 60 7078 306 ENST00000493196.1 0.038462 1 MAP3K7CL 56911 __UNKNOWN__ __UNKNOWN__ 21 30481371 30481371 __UNKNOWN__ 5'UTR SNP G G T rs2832181 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30481371G>T ENST00000339024.4 + 0 339 MAP3K7CL_ENST00000399935.2_Intron|MAP3K7CL_ENST00000496779.1_3'UTR|MAP3K7CL_ENST00000399934.1_Intron|MAP3K7CL_ENST00000545939.1_5'UTR|MAP3K7CL_ENST00000286791.5_Intron|MAP3K7CL_ENST00000399947.2_Intron|MAP3K7CL_ENST00000341618.4_Intron P57077 M3KCL_HUMAN MAP3K7 C-terminal like NA NA cytosol (GO:0005829)|nucleus (GO:0005634) NA GTTGACATTCGTAACCTTCCT 0.388 NA T||| 2610 0.521166 0.444 0.5245 5008 , , NA 19544 0.6528 NA 0.5676 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF269161 CCDS13584.1, CCDS68182.1, CCDS74775.1 21q22.3 2013-02-22 2013-02-22 2013-02-22 ENSG00000156265 ENSG00000156265 56911 16457 protein-coding gene gene with protein product 611110 chromosome 21 open reading frame 7 C21orf7 NA Standard NM_020152 NM_020152 NA Approved TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4 uc002ynf.3 P57077 OTTHUMG00000078806 ENST00000339024.4:c.-302G>T chr21.hg19:g.30481371G>T NA D3DSE0|Q8TCL9 hg19 0.02 11.015887 TTCxTAA COVERED NOVEL MAP3K7CL-005 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000171869.2 0 7.456837 KEEP 0 1 23 33 1110 GG 0.999998 0.999998 0 + 15 60 560 0 0 37.324913 284 60 9573 390 ENST00000339024.4 0.050167 1 MAP3K7CL 56911 __UNKNOWN__ __UNKNOWN__ 21 30481612 30481612 __UNKNOWN__ Intron SNP G G A rs2832182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30481612G>A ENST00000399935.2 + 5 499 MAP3K7CL_ENST00000496779.1_3'UTR|MAP3K7CL_ENST00000399934.1_Intron|MAP3K7CL_ENST00000339024.4_Intron|MAP3K7CL_ENST00000545939.1_Intron|MAP3K7CL_ENST00000286791.5_Intron|MAP3K7CL_ENST00000399947.2_Intron|MAP3K7CL_ENST00000341618.4_Intron P57077 M3KCL_HUMAN MAP3K7 C-terminal like NA NA cytosol (GO:0005829)|nucleus (GO:0005634) NA TGCTTATTTTGTGCCCATTTA 0.348 NA A||| 2642 0.527556 0.4675 0.5245 5008 , , NA 20647 0.6538 NA 0.5676 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF269161 CCDS13584.1, CCDS68182.1, CCDS74775.1 21q22.3 2013-02-22 2013-02-22 2013-02-22 ENSG00000156265 ENSG00000156265 56911 16457 protein-coding gene gene with protein product 611110 chromosome 21 open reading frame 7 C21orf7 NA Standard NM_020152 NM_020152 NA Approved TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4 uc002ynf.3 P57077 OTTHUMG00000078806 ENST00000399935.2:c.-169+16710G>A chr21.hg19:g.30481612G>A NA D3DSE0|Q8TCL9 hg19 0.02 4.306733 TTTxTGC COVERED NOVEL MAP3K7CL-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000171867.2 0 3.009849 KEEP 0 0 0 10 355 GG 0.992708 0.992707 0 + 7 60 261 0 0 17.80744 115 60 4198 140 ENST00000399935.2 0.057377 0.999999 MAP3K7CL 56911 __UNKNOWN__ __UNKNOWN__ 21 30505836 30505836 __UNKNOWN__ Intron SNP T T C rs9636820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30505836T>C ENST00000399935.2 + 7 737 MAP3K7CL_ENST00000399934.1_Intron|MAP3K7CL_ENST00000339024.4_Intron|MAP3K7CL_ENST00000399926.1_Intron|MAP3K7CL_ENST00000399925.1_Intron|MAP3K7CL_ENST00000545939.1_Intron|MAP3K7CL_ENST00000286791.5_Intron|MAP3K7CL_ENST00000399947.2_Intron|MAP3K7CL_ENST00000341618.4_Intron|MAP3K7CL_ENST00000399928.1_Intron P57077 M3KCL_HUMAN MAP3K7 C-terminal like NA NA cytosol (GO:0005829)|nucleus (GO:0005634) NA GTTGCATGCTTGCATGACCTG 0.433 NA C||| 1179 0.235423 0.2073 0.2709 5008 , , NA 20840 0.4028 NA 0.173 False NA ,,, NA NA NA 2504 0.1401 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF269161 CCDS13584.1, CCDS68182.1, CCDS74775.1 21q22.3 2013-02-22 2013-02-22 2013-02-22 ENSG00000156265 ENSG00000156265 56911 16457 protein-coding gene gene with protein product 611110 chromosome 21 open reading frame 7 C21orf7 NA Standard NM_020152 NM_020152 NA Approved TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4 uc002ynf.3 P57077 OTTHUMG00000078806 ENST00000399935.2:c.70+101T>C chr21.hg19:g.30505836T>C NA D3DSE0|Q8TCL9 hg19 0.02 3.461397 GCTxGCA COVERED NOVEL MAP3K7CL-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000171867.2 1 5.415741 KEEP 0 0 0 18 557 TT 0.999859 0.999859 0 + 6 60 206 0 0 12.529873 144 60 5295 171 ENST00000399935.2 0.04 1 MAP3K7CL 56911 __UNKNOWN__ __UNKNOWN__ 21 30532437 30532437 __UNKNOWN__ Intron SNP G G A rs2832224 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30532437G>A ENST00000399935.2 + 9 915 MAP3K7CL_ENST00000399934.1_Intron|MAP3K7CL_ENST00000339024.4_Intron|MAP3K7CL_ENST00000399926.1_Intron|MAP3K7CL_ENST00000399925.1_Intron|MAP3K7CL_ENST00000545939.1_Intron|MAP3K7CL_ENST00000286791.5_Intron|MAP3K7CL_ENST00000399947.2_Intron|MAP3K7CL_ENST00000341618.4_Intron|MAP3K7CL_ENST00000399928.1_Intron P57077 M3KCL_HUMAN MAP3K7 C-terminal like NA NA cytosol (GO:0005829)|nucleus (GO:0005634) NA AGGACCAGGGGCAATGGGCAG 0.517 NA G||| 1648 0.329073 0.1974 0.3401 5008 , , NA 18602 0.5873 NA 0.2644 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF269161 CCDS13584.1, CCDS68182.1, CCDS74775.1 21q22.3 2013-02-22 2013-02-22 2013-02-22 ENSG00000156265 ENSG00000156265 56911 16457 protein-coding gene gene with protein product 611110 chromosome 21 open reading frame 7 C21orf7 NA Standard NM_020152 NM_020152 NA Approved TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4 uc002ynf.3 P57077 OTTHUMG00000078806 ENST00000399935.2:c.248+60G>A chr21.hg19:g.30532437G>A NA D3DSE0|Q8TCL9 hg19 0.02 6.428604 GGGxCAA COVERED NOVEL MAP3K7CL-003 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000171867.2 1 6.15543 KEEP 0 1 33 32 1143 GG 0.999998 0.999998 0 + 9 60 326 0 0 21.007018 189 60 7017 276 ENST00000399935.2 0.045455 1 BACH1 571 __UNKNOWN__ __UNKNOWN__ 21 30716226 30716226 __UNKNOWN__ 3'UTR SNP G G C rs73897766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30716226G>C ENST00000399921.1 + 0 3526 BACH1_ENST00000286800.3_3'UTR NM_206866.1 NP_996749.1 Q9BX63 FANCJ_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 NA NA DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 TGTGAAATAGGATGAAACTCA 0.338 NA G||| 135 0.0269569 0.0484 0.0058 5008 , , NA 19970 0.0645 NA 0.002 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF026200 CCDS13585.1 21q22.1 2013-01-10 ENSG00000156273 ENSG00000156273 571 BTB/POZ domain containing, basic leucine zipper proteins 935 protein-coding gene gene with protein product 602751 NA 9544839, 9479503 Standard NM_206866 NR_027655 NA Approved BACH-1, BTBD24 uc002ynj.3 O14867 OTTHUMG00000078878 ENST00000399921.1:c.*1072G>C chr21.hg19:g.30716226G>C NA Q3MJE2|Q8NCI5 hg19 CCDS13585.1 0.02 3.804112 TAGxATG COVERED NOVEL BACH1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171974.1 0 8.728526 KEEP 0 0 0 29 1042 GG 0.999997 0.999997 0 + 5 60 183 0 0 11.244259 140 60 5197 206 ENST00000399921.1 0.034483 1 BACH1 571 __UNKNOWN__ __UNKNOWN__ 21 30717151 30717151 __UNKNOWN__ 3'UTR SNP C C T rs368322 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30717151C>T ENST00000399921.1 + 0 4451 BACH1_ENST00000286800.3_3'UTR NM_206866.1 NP_996749.1 Q9BX63 FANCJ_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 NA NA DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CAGTGTACACCCAACTATTGG 0.313 NA T||| 4039 0.80651 0.9213 0.7896 5008 , , NA 17962 0.8909 NA 0.6392 False NA ,,, NA NA NA 2504 0.7485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF026200 CCDS13585.1 21q22.1 2013-01-10 ENSG00000156273 ENSG00000156273 571 BTB/POZ domain containing, basic leucine zipper proteins 935 protein-coding gene gene with protein product 602751 NA 9544839, 9479503 Standard NM_206866 NR_027655 NA Approved BACH-1, BTBD24 uc002ynj.3 O14867 OTTHUMG00000078878 ENST00000399921.1:c.*1997C>T chr21.hg19:g.30717151C>T NA Q3MJE2|Q8NCI5 hg19 CCDS13585.1 0.02 6.776025 CACxCAA COVERED NOVEL BACH1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171974.1 0 12.640817 KEEP 0 0 0 42 1450 CC 1 1 0 + 15 60 555 0 0 40.205841 166 60 5960 279 ENST00000399921.1 0.082873 1 BACH1 571 __UNKNOWN__ __UNKNOWN__ 21 30718201 30718201 __UNKNOWN__ 3'UTR SNP G G A rs15092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30718201G>A ENST00000399921.1 + 0 5501 BACH1_ENST00000286800.3_3'UTR NM_206866.1 NP_996749.1 Q9BX63 FANCJ_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 1 NA NA DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872) breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2) 27 CATAATGGTAGAAGATGGCAT 0.229 NA A||| 4047 0.808107 0.9213 0.7925 5008 , , NA 16600 0.8909 NA 0.6451 False NA ,,, NA NA NA 2504 0.7485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF026200 CCDS13585.1 21q22.1 2013-01-10 ENSG00000156273 ENSG00000156273 571 BTB/POZ domain containing, basic leucine zipper proteins 935 protein-coding gene gene with protein product 602751 NA 9544839, 9479503 Standard NM_206866 NR_027655 NA Approved BACH-1, BTBD24 uc002ynj.3 O14867 OTTHUMG00000078878 ENST00000399921.1:c.*3047G>A chr21.hg19:g.30718201G>A NA Q3MJE2|Q8NCI5 hg19 CCDS13585.1 0.02 5.839348 GTAxAAG COVERED NOVEL BACH1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000171974.1 1 8.463464 KEEP 0 1 34 40 1451 GG 1 1 0 + 11 60 368 0 0 24.450844 163 60 6197 275 ENST00000399921.1 0.063218 1 GRIK1 2897 __UNKNOWN__ __UNKNOWN__ 21 30963590 30963590 __UNKNOWN__ Intron SNP G G T rs363432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30963590G>T ENST00000399907.1 - 10 1663 GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000399909.1_Intron|GRIK1_ENST00000309434.7_Intron|GRIK1_ENST00000399913.1_Intron NM_000830.3 NP_000821.1 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 NA NA adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 Topiramate(DB00273) TGTCAGTGTGGCATTTACACC 0.498 NA G||| 1242 0.248003 0.3449 0.2911 5008 , , NA 16294 0.2688 NA 0.1322 False NA ,,, NA NA NA 2504 0.184 NA NA NA NA 0 G , 1389,3017 455.7+/-351.1 232,925,1046 110 92 98 , 0.5 0 21 dbSNP_79 98 1200,7400 243.6+/-273.1 86,1028,3186 no intron,intron GRIK1 NM_000830.3,NM_175611.2 , 318,1953,4232 TT,TG,GG 13.9535,31.5252,19.9062 , , 30963590 2589,10417 2203 4300 6503 SO:0001627 intron_variant CCDS33530.1, CCDS42913.1 21q22 2012-08-29 ENSG00000171189 ENSG00000171189 2897 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4579 protein-coding gene gene with protein product 138245 GLUR5 NA 8468067 Standard XM_005260942 NA Approved GluK1 uc002yno.1 P39086 OTTHUMG00000078879 ENST00000399907.1:c.1252-45C>A chr21.hg19:g.30963590G>T NA Q13001|Q86SU9 hg19 CCDS42913.1 0.02 4.14795 GTGxCAT COVERED NOVEL GRIK1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000171979.1 1 5.718464 KEEP 0 0 0 19 662 GG 0.99986 0.99986 0 - 7 60 264 0 0 17.674587 133 60 4850 173 ENST00000399907.1 0.05 1 GRIK1 2897 __UNKNOWN__ __UNKNOWN__ 21 30969901 30969901 __UNKNOWN__ Intron SNP T T C rs363431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30969901T>C ENST00000399907.1 - 9 1618 BACH1_ENST00000462262.1_3'UTR|GRIK1-AS2_ENST00000333765.4_3'UTR|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000399909.1_Intron|GRIK1_ENST00000309434.7_Intron|GRIK1_ENST00000399913.1_Intron NM_000830.3 NP_000821.1 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 NA NA adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 Topiramate(DB00273) CAACATCCCATGCACCATCGT 0.448 NA C||| 3059 0.610823 0.9168 0.4899 5008 , , NA 18420 0.6687 NA 0.3708 False NA ,,, NA NA NA 2504 0.4703 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS33530.1, CCDS42913.1 21q22 2012-08-29 ENSG00000171189 ENSG00000171189 2897 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4579 protein-coding gene gene with protein product 138245 GLUR5 NA 8468067 Standard XM_005260942 NA Approved GluK1 uc002yno.1 P39086 OTTHUMG00000078879 ENST00000399907.1:c.1207-1011A>G chr21.hg19:g.30969901T>C NA Q13001|Q86SU9 hg19 CCDS42913.1 0.02 12.878709 CCAxGCA COVERED 1262|1262 0.5778388278388278|0.5778388278388278 443|443 0.9004065040650406|0.9004065040650406 176|176 0.4861878453038674|0.4861878453038674 373|373 0.6520979020979021|0.6520979020979021 270|270 0.3562005277044855|0.3562005277044855 C|C 7.007|7.007 0.555946|0.555946 0.13436|0.13436 .|. .|. ENSG00000156273|ENSG00000156273 ENST00000551628|ENST00000422809 .|. .|. .|. 3.98|3.98 -4.69|-4.69 0.03299|0.03299 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.80722|0.80722 P|P 0.0|0.0 .|. .|. .|. .|. .|. .|. T|T 0.15752|0.15752 -1.0426|-1.0426 3|3 .|. .|. .|. .|. 3.5282|3.5282 0.07766|0.07766 0.1248:0.185:0.123:0.5672|0.1248:0.185:0.123:0.5672 rs363431;rs17763257;rs60974402;rs363431|rs363431;rs17763257;rs60974402;rs363431 .|. .|. .|. R|T 121|175 .|. .|. C|M +|+ 1|2 0|0 BACH1|BACH1 29891772|29891772 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.001000|0.001000 0.01503|0.01503 -1.599000|-1.599000 0.02085|0.02085 -1.595000|-1.595000 0.01613|0.01613 -0.808000|-0.808000 0.03180|0.03180 TGC|ATG NOVEL GRIK1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000171979.1 1 8.424189 KEEP 0 0 0 28 842 TT 0.999997 0.999997 0 - 11 60 404 0 0 25.308545 281 60 10451 371 ENST00000399907.1 0.037671 1 GRIK1 2897 __UNKNOWN__ __UNKNOWN__ 21 30971183 30971183 __UNKNOWN__ Silent SNP G G A rs363430 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:30971183G>A ENST00000399907.1 - 8 1584 c.1173C>T c.(1171-1173)gaC>gaT p.D391D BACH1_ENST00000462262.1_Intron|GRIK1-AS2_ENST00000333765.4_Intron|GRIK1_ENST00000327783.4_Silent_p.D391D|GRIK1_ENST00000535441.1_Silent_p.D393D|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Silent_p.D391D|GRIK1_ENST00000399914.1_Silent_p.D391D|GRIK1_ENST00000389124.2_Silent_p.D391D|GRIK1_ENST00000399909.1_Silent_p.D391D|GRIK1_ENST00000309434.7_Silent_p.D393D|GRIK1_ENST00000399913.1_Silent_p.D391D NM_000830.3 NP_000821.1 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 391 NA adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810) cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734) extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277) p.D391D(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 Topiramate(DB00273) GACTAATAATGTCCAGATCAA 0.373 NA G||| 1108 0.221246 0.1868 0.2767 5008 , , NA 18704 0.3512 NA 0.1322 False NA ,,, NA NA NA 2504 0.1861 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) G , 804,3602 320.7+/-296.8 82,640,1481 100 99 99 1173,1173 3 1 21 dbSNP_79 99 1195,7405 242.6+/-272.5 85,1025,3190 no coding-synonymous,coding-synonymous GRIK1 NM_000830.3,NM_175611.2 , 167,1665,4671 AA,AG,GG 13.8953,18.2478,15.3698 , 391/919,391/906 30971183 1999,11007 2203 4300 6503 SO:0001819 synonymous_variant CCDS33530.1, CCDS42913.1 21q22 2012-08-29 ENSG00000171189 ENSG00000171189 2897 Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors 4579 protein-coding gene gene with protein product 138245 GLUR5 NA 8468067 Standard XM_005260942 NA Approved GluK1 uc002yno.1 P39086 OTTHUMG00000078879 ENST00000399907.1:c.1173C>T chr21.hg19:g.30971183G>A NA Q13001|Q86SU9 hg19 CCDS42913.1 0.02 10.334846 AATxTCC COVERED NOVEL GRIK1-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000171979.1 2 10.827667 KEEP 0 0 0 36 1244 GG 0.999999 0.999999 0 - 13 60 479 0 0 30.926522 284 60 10749 419 ENST00000399907.1 0.043771 1 CLDN8 9073 __UNKNOWN__ __UNKNOWN__ 21 31587793 31587793 __UNKNOWN__ Missense_Mutation SNP A A G rs686364 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:31587793A>G ENST00000399899.1 - 1 598 c.451T>C c.(451-453)Tca>Cca p.S151P CLDN8_ENST00000286809.1_Missense_Mutation_p.S151P NM_199328.2 NP_955360.1 P56748 CLD8_HUMAN claudin 8 151 NA S -> P (in dbSNP:rs686364). {ECO:0000269|Ref.3}. calcium-independent cell-cell adhesion (GO:0016338) basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) NS(1)|endometrium(2)|large_intestine(6)|lung(6) 15 TTCACTATTGAGTTATAGAAA 0.498 NA G||| 2097 0.41873 0.7216 0.2651 5008 , , NA 19712 0.4484 NA 0.2773 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 G PRO/SER 2900,1506 480.4+/-358.8 947,1006,250 72 72 72 451 4 1 21 dbSNP_83 72 2098,6502 717.1+/-406.1 271,1556,2473 yes missense CLDN8 NM_199328.2 74 1218,2562,2723 GG,GA,AA 24.3953,34.1807,38.4284 benign 151/226 31587793 4998,8008 2203 4300 6503 SO:0001583 missense AJ250711 CCDS13587.1 21q22.1 2008-07-31 ENSG00000156284 ENSG00000156284 9073 Claudins 2050 protein-coding gene gene with protein product 611231 NA 9892664 Standard NM_199328 NM_199328 NA Approved uc002ynu.2 P56748 OTTHUMG00000081872 ENST00000399899.1:c.451T>C chr21.hg19:g.31587793A>G ENSP00000382783:p.Ser151Pro NA D3DSE3|Q53EX7 hg19 CCDS13587.1 0.02 10.099596 TTGxGTT COVERED 883 0.4043040293040293 340 0.6910569105691057 102 0.281767955801105 242 0.4230769230769231 199 0.262532981530343 G 0.021 -1.429690 0.01117 0.658193 0.243953 ENSG00000156284 ENST00000399899;ENST00000286809;ENST00000536721 D;D 0.88741 -2.42;-2.42 4.84 3.96 0.45880 . 0.056944 0.64402 N 0.000001 T 0.00012 0.0000 N 0.00014 -2.91 0.46113 P 0.0011250000000000426 B 0.02656 0.0 B 0.01281 0.0 T 0.48445 -0.9035 9 0.02654 T 1 . 11.4472 0.50131 0.1492:0.0:0.8508:0.0 rs686364;rs3746849;rs52794641;rs56681626;rs686364 151 P56748 CLD8_HUMAN P 151 ENSP00000382783:S151P;ENSP00000286809:S151P ENSP00000286809:S151P S - 1 0 CLDN8 30509664 1.000000 0.71417 0.983000 0.44433 0.029000 0.11900 7.728000 0.84847 0.776000 0.33473 -0.790000 0.03334 TCA NOVEL CLDN8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000182260.1 4 6.619955 KEEP 0 0 0 22 684 AA 0.999892 0.999892 0 - 9 60 311 0 0 18.016915 281 60 10183 344 ENST00000399899.1 0.031034 1 KRTAP13-1 140258 __UNKNOWN__ __UNKNOWN__ 21 31768539 31768539 __UNKNOWN__ Silent SNP G G C rs9636833 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:31768539G>C ENST00000355459.2 + 1 148 c.135G>C c.(133-135)acG>acC p.T45T NM_181599.2 NP_853630.2 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 45 NA intermediate filament (GO:0005882) endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTCCCAGCACGTGCCAGCTGG 0.622 NA C||| 933 0.186302 0.1475 0.0677 5008 , , NA 19493 0.4256 NA 0.1272 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C 657,3749 765.3+/-413.3 48,561,1594 82 82 82 135 1.7 0.1 21 dbSNP_119 82 938,7662 776.2+/-407.7 57,824,3419 no coding-synonymous KRTAP13-1 NM_181599.2 105,1385,5013 CC,CG,GG 10.907,14.9115,12.2636 45/173 31768539 1595,11411 2203 4300 6503 SO:0001819 synonymous_variant AJ457066 CCDS13590.2 21q22.11 2013-06-20 ENSG00000198390 ENSG00000198390 140258 Keratin associated proteins 18924 protein-coding gene gene with protein product 608718 NA 12359730 Standard NM_181599 NA Approved KAP13.1 uc002yoa.3 Q8IUC0 OTTHUMG00000057800 ENST00000355459.2:c.135G>C chr21.hg19:g.31768539G>C NA Q14D20|Q3LI79 hg19 CCDS13590.2 0.02 16.10975 CACxTGC COVERED NOVEL KRTAP13-1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128252.3 2 7.522536 KEEP 0 0 0 25 818 GG 0.999931 0.999931 0 + 11 60 428 0 0 26.350561 375 60 13295 449 ENST00000355459.2 0.028497 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32007466 32007466 __UNKNOWN__ IGR SNP G G A rs72613606 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32007466G>A NA NA KRTAP20-4 (14297 upstream) : KRTAP20-2 (88 downstream) NA NA NA CAGGTCCTGTGGTGGGTCCCA 0.373 NA G||| 976 0.194888 0.0862 0.1643 5008 , , NA 18156 0.5407 NA 0.1203 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32007466G>A NA hg19 0.02 12.108276 TGTxGTG COVERED NOVEL 0 0 3.611153 KEEP 0 0 0 12 404 GG 0.994391 0.994391 0 13 60 437 0 0 26.121462 320 60 12052 373 0.039039 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32090837 32090837 __UNKNOWN__ IGR SNP A A T rs2833030 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32090837A>T NA NA KRTAP20-3 (75382 upstream) : KRTAP21-3 (5 downstream) NA NA NA CTAACGGAGAACTATCAGGAT 0.343 NA G||| 1388 0.277157 0.4864 0.1715 5008 , , NA 17844 0.4792 NA 0.0716 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32090837A>T NA hg19 0.02 31.7699 AGAxCTA COVERED NOVEL 0 0 15.043986 KEEP 0 0 0 50 1552 AA 1 1 0 40 60 1488 0 0 101.291661 661 60 23756 888 0.057061 1 KRTAP21-3 100288323 __UNKNOWN__ __UNKNOWN__ 21 32090908 32090908 __UNKNOWN__ Missense_Mutation SNP C C T rs2833031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32090908C>T ENST00000444335.1 - 1 187 c.170G>A c.(169-171)tGc>tAc p.C57Y NM_001164435.1 NP_001157907.1 Q3LHN1 KR213_HUMAN keratin associated protein 21-3 57 NA intermediate filament (GO:0005882) NA TGCTCAATGGCATTTCTTAGA 0.338 NA T||| 1388 0.277157 0.4864 0.1715 5008 , , NA 19242 0.4792 NA 0.0716 False NA ,,, NA NA NA 2504 0.0726 NA NA NA NA 0 T TYR/CYS 595,789 130,335,227 43 40 41 170 2.6 0 21 dbSNP_100 41 149,3033 5,139,1447 yes missense KRTAP21-3 NM_001164435.1 194 135,474,1674 TT,TC,CC 4.6826,42.9913,16.2943 57/59 32090908 744,3822 692 1591 2283 SO:0001583 missense AB180042 CCDS54481.1 21q22.11 2011-02-24 ENSG00000231068 ENSG00000231068 100288323 Keratin associated proteins 34216 protein-coding gene gene with protein product NA Standard XM_002343741 NM_001164435 NA Approved uc021wii.1 Q3LHN1 OTTHUMG00000125533 ENST00000444335.1:c.170G>A chr21.hg19:g.32090908C>T ENSP00000404517:p.Cys57Tyr NA hg19 CCDS54481.1 0.02 27.441708 TGGxATT COVERED 611 0.27976190476190477 214 0.4349593495934959 57 0.1574585635359116 282 0.493006993006993 58 0.07651715039577836 T 1.342 -0.593954 0.03771 0.429913 0.046826 ENSG00000231068 ENST00000444335 . . . 2.64 2.64 0.31445 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.46442 -0.9191 4 0.87932 D 0 . 4.7304 0.12961 0.0:0.1484:0.0:0.8516 rs2833031;rs60581928 . . . Y 57 . ENSP00000404517:C57Y C - 2 0 KRTAP21-3 31012779 0.007000 0.16637 0.012000 0.15200 0.010000 0.07245 0.907000 0.28531 0.469000 0.27268 -0.268000 0.10319 TGC NOVEL KRTAP21-3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000246864.1 1 11.136364 KEEP 0 0 0 37 1323 CC 1 1 0 - 43 60 1516 0 0 103.135564 616 60 23225 803 ENST00000444335.1 0.06525 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32114077 32114077 __UNKNOWN__ IGR SNP A A T rs72493766 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32114077A>T NA NA KRTAP21-3 (22982 upstream) : KRTAP21-2 (5034 downstream) NA NA NA TCATTAAGGCAAGGATCATCT 0.438 NA A||| 920 0.183706 0.3011 0.0403 5008 , , NA 21802 0.3562 NA 0.0686 False NA ,,, NA NA NA 2504 0.0675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32114077A>T NA hg19 0.02 9.923143 GGCxAGG COVERED NOVEL 0 1 6.618142 KEEP 0 0 0 22 687 AA 0.999879 0.999879 0 23 60 890 0 0 67.462414 208 60 7591 321 0.099567 1 KRTAP21-2 337978 __UNKNOWN__ __UNKNOWN__ 21 32119495 32119495 __UNKNOWN__ Missense_Mutation SNP C C G rs12053674 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32119495C>G ENST00000333892.2 - 1 56 c.26G>C c.(25-27)tGc>tCc p.C9S NM_181617.1 NP_853648.1 Q3LI59 KR212_HUMAN keratin associated protein 21-2 9 NA C -> S (in Ref. 1; BAE46374). {ECO:0000305}. intermediate filament (GO:0005882) structural constituent of cutaneous appendage (GO:0030281) lung(4)|skin(2)|upper_aerodigestive_tract(1) 7 gccccCACAGCAGTTTCTGTA 0.493 NA G||| 1043 0.208267 0.385 0.0519 5008 , , NA 20384 0.3571 NA 0.0686 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 G SER/CYS 1449,2957 682.0+/-404.1 230,989,984 152 153 153 26 -0.7 0 21 dbSNP_120 153 410,8190 801.0+/-407.4 12,386,3902 yes missense KRTAP21-2 NM_181617.1 112 242,1375,4886 GG,GC,CC 4.7674,32.887,14.2934 benign 9/84 32119495 1859,11147 2203 4300 6503 SO:0001583 missense AP001709 CCDS13605.1 21q22.1 2006-03-13 ENSG00000187026 ENSG00000187026 337978 Keratin associated proteins 18946 protein-coding gene gene with protein product NA 12359730 Standard NM_181617 NA Approved KAP21.2 uc011adh.2 Q3LI59 OTTHUMG00000057769 ENST00000333892.2:c.26G>C chr21.hg19:g.32119495C>G ENSP00000334287:p.Cys9Ser NA hg19 CCDS13605.1 0.02 20.543761 CAGxAGT COVERED 443 0.20283882783882784 160 0.3252032520325203 17 0.04696132596685083 210 0.36713286713286714 56 0.07387862796833773 G 1.078 -0.667704 0.03428 0.32887 0.047674 ENSG00000187026 ENST00000333892 T 0.08634 3.07 4.81 -0.735 0.11137 . 0.422367 0.17443 N 0.174059 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.43491 -0.9388 8 0.02654 T 1 -0.3615 3.4867 0.07622 0.0867:0.3986:0.2439:0.2709 rs12053674;rs52790703;rs12053674 9 Q3LI59 KR212_HUMAN S 9 ENSP00000334287:C9S ENSP00000334287:C9S C - 2 0 KRTAP21-2 31041366 0.000000 0.05858 0.001000 0.08648 0.003000 0.03518 -0.538000 0.06120 -0.040000 0.13580 -0.371000 0.07208 TGC NOVEL KRTAP21-2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128221.2 8 18.360083 KEEP 0 0 0 61 2190 CC 1 1 0 - 24 60 884 0 0 58.424238 459 60 17576 650 ENST00000333892.2 0.049689 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32119576 32119576 __UNKNOWN__ IGR SNP C C G rs2833074 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32119576C>G NA NA KRTAP21-2 (25 upstream) : KRTAP21-1 (7862 downstream) NA NA NA TGAAGTGTGACTGTCCTCTAC 0.418 NA G||| 1043 0.208267 0.385 0.0519 5008 , , NA 19717 0.3571 NA 0.0686 False NA ,,, NA NA NA 2504 0.0706 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32119576C>G NA hg19 0.02 21.105688 TGAxTGT COVERED NOVEL 0 3 11.13682 KEEP 0 0 0 37 1358 CC 1 1 0 29 60 1061 0 0 73.264517 424 60 16114 578 0.064018 1 KRTAP8-1 337879 __UNKNOWN__ __UNKNOWN__ 21 32185327 32185327 __UNKNOWN__ 3'UTR SNP A A G rs7278128 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32185327A>G ENST00000329621.4 - 0 243 NM_175857.3 NP_787053.1 Q8IUC2 KRA81_HUMAN keratin associated protein 8-1 NA NA intermediate filament (GO:0005882) central_nervous_system(1)|large_intestine(1)|lung(4) 6 AAGATGCTACACCTCGGGGAT 0.547 NA G||| 811 0.161941 0.3449 0.0317 5008 , , NA 17551 0.2857 NA 0.0109 False NA ,,, NA NA NA 2504 0.0348 NA NA NA NA 0 G 1311,3095 694.6+/-405.8 204,903,1096 63 64 63 -0.3 0 21 dbSNP_116 63 37,8563 816.5+/-406.9 0,37,4263 no utr-3 KRTAP8-1 NM_175857.3 204,940,5359 GG,GA,AA 0.4302,29.7549,10.3644 32185327 1348,11658 2203 4300 6503 SO:0001624 3_prime_UTR_variant AJ457064 CCDS13607.1 21q22.1 2006-03-13 ENSG00000183640 ENSG00000183640 337879 Keratin associated proteins 18935 protein-coding gene gene with protein product NA 12359730 Standard NM_175857 NA Approved KAP8.1 uc002you.3 Q8IUC2 OTTHUMG00000057771 ENST00000329621.4:c.*20T>C chr21.hg19:g.32185327A>G NA Q3LI57 hg19 CCDS13607.1 0.02 14.568654 TACxCCT COVERED NOVEL KRTAP8-1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128223.1 2 12.636912 KEEP 0 0 0 42 1295 AA 1 1 0 - 13 60 437 0 0 25.668077 346 60 12213 511 ENST00000329621.4 0.036212 1 KRTAP11-1 337880 __UNKNOWN__ __UNKNOWN__ 21 32253513 32253513 __UNKNOWN__ Missense_Mutation SNP A A T rs9636845 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32253513A>T ENST00000332378.4 - 1 361 c.331T>A c.(331-333)Tgt>Agt p.C111S NM_175858.2 NP_787054.1 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 111 4 X 10 AA approximate repeats. NA C -> S (in dbSNP:rs9636845). keratin filament (GO:0045095) structural molecule activity (GO:0005198) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1) 18 AGGGGCTGACATCCACTAGAG 0.577 NA A||| 876 0.17492 0.0045 0.2032 5008 , , NA 18222 0.4663 NA 0.0885 False NA ,,, NA NA NA 2504 0.1738 NA NA NA NA 0 A SER/CYS 112,4294 86.8+/-125.4 0,112,2091 68 69 69 331 5.4 0.9 21 dbSNP_119 69 766,7834 183.5+/-231.7 27,712,3561 yes missense KRTAP11-1 NM_175858.2 112 27,824,5652 TT,TA,AA 8.907,2.542,6.7507 probably-damaging 111/164 32253513 878,12128 2203 4300 6503 SO:0001583 missense AJ457065 CCDS13608.1 21q22.1 2003-03-11 ENSG00000182591 ENSG00000182591 337880 Keratin associated proteins 18922 protein-coding gene gene with protein product 600064 NA 12359730 Standard NM_175858 NA Approved KAP11.1 uc002yov.3 Q8IUC1 OTTHUMG00000057773 ENST00000332378.4:c.331T>A chr21.hg19:g.32253513A>T ENSP00000330720:p.Cys111Ser NA A1L4I8 hg19 CCDS13608.1 0.02 8.190858 GACxTCC COVERED 396 0.1813186813186813 3 0.006097560975609756 74 0.20441988950276244 247 0.4318181818181818 72 0.09498680738786279 A 15.98 2.992318 0.54041 0.02542 0.08907 ENSG00000182591 ENST00000332378 T 0.04502 3.61 5.4 5.4 0.78164 . 0.333214 0.29059 N 0.013280 T 0.00012 0.0000 M 0.79258 2.445 0.23510 P 0.99752933 D 0.89917 1.0 D 0.91635 0.999 T 0.50939 -0.8768 9 0.51188 T 0.08 -6.3876 13.7235 0.62743 1.0:0.0:0.0:0.0 rs9636845;rs52829141;rs9636845 111 Q8IUC1 KR111_HUMAN S 111 ENSP00000330720:C111S ENSP00000330720:C111S C - 1 0 KRTAP11-1 31175384 0.998000 0.40836 0.915000 0.36163 0.372000 0.29890 4.106000 0.57804 2.197000 0.70478 0.529000 0.55759 TGT NOVEL KRTAP11-1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128225.1 1 7.221938 KEEP 0 0 0 24 754 AA 0.999909 0.999909 0 - 10 60 364 0 0 23.218805 225 60 8227 298 ENST00000332378.4 0.042553 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32434839 32434839 __UNKNOWN__ IGR SNP C C T rs2070406 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32434839C>T NA NA KRTAP19-8 (24044 upstream) : TIAM1 (55894 downstream) NA NA NA CATCATTCTCCGAATCTGGTC 0.408 NA c||| 750 0.14976 0.0023 0.0274 5008 , , NA 22496 0.5873 NA 0.0129 False NA ,,, NA NA NA 2504 0.1258 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32434839C>T NA hg19 0.02 2.291032 CTCxGAA COVERED NOVEL 0 0 3.310737 KEEP 0 0 0 11 380 CC 0.993072 0.989331 0 5 60 192 0 0 13.830236 63 60 2098 85 0.073529 0.996233 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 32490676 32490676 __UNKNOWN__ IGR SNP G G A rs2833279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32490676G>A NA NA KRTAP19-8 (79881 upstream) : TIAM1 (57 downstream) NA NA NA TCCCACGGCCGCTCTCCCGCC 0.428 NA g||| 471 0.0940495 0.1997 0.0389 5008 , , NA 17025 0.1458 NA 0.0159 False NA ,,, NA NA NA 2504 0.0174 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.32490676G>A NA hg19 0.02 6.521804 GCCxCTC COVERED NOVEL 0 1 4.746511 KEEP 0 1 32 27 835 GG 0.999997 0.999997 0 6 60 216 0 0 13.47618 147 60 4844 200 0.039216 1 TIAM1 7074 __UNKNOWN__ __UNKNOWN__ 21 32503342 32503342 __UNKNOWN__ Intron SNP A A G rs2833289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32503342A>G ENST00000286827.3 - 25 4355 TIAM1_ENST00000541036.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 NA NA apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234) phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AACTTGTGGTAATAAACACTA 0.393 NA A||| 279 0.0557109 0.003 0.0331 5008 , , NA 19594 0.1101 NA 0.0676 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13609.1 21q22.1 2013-01-10 ENSG00000156299 ENSG00000156299 7074 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11805 protein-coding gene gene with protein product 600687 NA 8595894, 15340013 Standard NM_003253 NM_003253 NA Approved uc002yow.1 Q13009 OTTHUMG00000084869 ENST00000286827.3:c.3884-76T>C chr21.hg19:g.32503342A>G NA B7ZLR6|F5GZ53|Q17RT7 hg19 CCDS13609.1 0.02 6.957131 GGTxATA COVERED NOVEL TIAM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192552.1 1 8.424294 KEEP 0 0 0 28 849 AA 0.999997 0.999997 0 - 6 60 236 0 0 14.997602 177 60 6374 265 ENST00000286827.3 0.032787 1 TIAM1 7074 __UNKNOWN__ __UNKNOWN__ 21 32638549 32638549 __UNKNOWN__ Missense_Mutation SNP C C A rs386817934|rs2070417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32638549C>A ENST00000286827.3 - 5 1211 c.740G>T c.(739-741)gGg>gTg p.G247V TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G247V NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 247 NA G -> R (in dbSNP:rs2070418).|G -> V (in dbSNP:rs2070417). G -> M (in Ref. 1; AAA98443). {ECO:0000305}. apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234) phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCCCGGCCCCCCGTTTGCTGT 0.532 NA C||| 1069 0.213458 0.0159 0.2594 5008 , , NA 16243 0.4107 NA 0.1133 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 C VAL/GLY 145,4261 86.3+/-125.0 6,133,2064 69 73 72 740 4.4 1 21 dbSNP_96 72 711,7889 137.1+/-194.1 38,635,3627 yes missense TIAM1 NM_003253.2 109 44,768,5691 AA,AC,CC 8.2674,3.291,6.5816 probably-damaging 247/1592 32638549 856,12150 2203 4300 6503 SO:0001583 missense CCDS13609.1 21q22.1 2013-01-10 ENSG00000156299 ENSG00000156299 7074 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11805 protein-coding gene gene with protein product 600687 NA 8595894, 15340013 Standard NM_003253 NM_003253 NA Approved uc002yow.1 Q13009 OTTHUMG00000084869 ENST00000286827.3:c.740G>T chr21.hg19:g.32638549C>A ENSP00000286827:p.Gly247Val NA B7ZLR6|F5GZ53|Q17RT7 hg19 CCDS13609.1 0.02 19.303758 CCCxCGT COVERED 353 0.16163003663003664 7 0.014227642276422764 80 0.22099447513812154 196 0.34265734265734266 70 0.09234828496042216 C 16.56 3.156271 0.57259 0.03291 0.082674 ENSG00000156299 ENST00000286827;ENST00000399841;ENST00000541036 T;T 0.41065 1.03;1.01 5.4 4.45 0.53987 . 0.367039 0.30869 N 0.008718 T 0.00012 0.0000 L 0.36672 1.1 0.09310 P 0.999999663474 B;B;B 0.30281 0.275;0.18;0.18 B;B;B 0.30646 0.118;0.055;0.055 T 0.33803 -0.9854 9 0.52906 T 0.07 . 14.725 0.69339 0.0:0.9206:0.0:0.0794 rs2070417;rs59059207;rs2070417 247;247;247 F5GZ53;B7ZLR6;Q13009 .;.;TIAM1_HUMAN V 247;88;247 ENSP00000286827:G247V;ENSP00000441570:G247V ENSP00000286827:G247V G - 2 0 TIAM1 31560420 0.938000 0.31826 1.000000 0.80357 0.994000 0.84299 4.159000 0.58157 2.803000 0.96430 0.585000 0.79938 GGG NOVEL TIAM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192552.1 2 18.359587 KEEP 0 0 0 61 2165 CC 1 1 0 - 13 60 468 1 0 27.253553 453 60 16844 668 ENST00000286827.3 0.027897 1 TIAM1 7074 __UNKNOWN__ __UNKNOWN__ 21 32638550 32638550 __UNKNOWN__ Missense_Mutation SNP C C T rs2070418|rs386817934 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:32638550C>T ENST00000286827.3 - 5 1210 c.739G>A c.(739-741)Ggg>Agg p.G247R TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.G247R NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 247 NA G -> R (in dbSNP:rs2070418).|G -> V (in dbSNP:rs2070417). G -> M (in Ref. 1; AAA98443). {ECO:0000305}. apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234) phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CCCGGCCCCCCGTTTGCTGTC 0.537 NA C||| 1069 0.213458 0.0159 0.2594 5008 , , NA 16363 0.4107 NA 0.1133 False NA ,,, NA NA NA 2504 0.3476 NA NA NA NA 0 C ARG/GLY 148,4258 88.2+/-126.9 6,136,2061 69 73 71 739 4.5 1 21 dbSNP_96 71 730,7870 141.4+/-197.7 39,652,3609 yes missense TIAM1 NM_003253.2 125 45,788,5670 TT,TC,CC 8.4884,3.3591,6.7507 probably-damaging 247/1592 32638550 878,12128 2203 4300 6503 SO:0001583 missense CCDS13609.1 21q22.1 2013-01-10 ENSG00000156299 ENSG00000156299 7074 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 11805 protein-coding gene gene with protein product 600687 NA 8595894, 15340013 Standard NM_003253 NM_003253 NA Approved uc002yow.1 Q13009 OTTHUMG00000084869 ENST00000286827.3:c.739G>A chr21.hg19:g.32638550C>T ENSP00000286827:p.Gly247Arg NA B7ZLR6|F5GZ53|Q17RT7 hg19 CCDS13609.1 0.02 19.286431 CCCxGTT COVERED 351 0.16071428571428573 7 0.014227642276422764 80 0.22099447513812154 196 0.34265734265734266 68 0.08970976253298153 C 13.23 2.176241 0.38413 0.033591 0.084884 ENSG00000156299 ENST00000286827;ENST00000399841;ENST00000541036 T;T 0.39229 1.11;1.09 5.4 4.49 0.54785 . 0.367039 0.30869 N 0.008718 T 0.00012 0.0000 L 0.36672 1.1 0.25471 P 0.9878204 P;P;P 0.46656 0.882;0.813;0.813 B;B;B 0.34824 0.19;0.093;0.093 T 0.42050 -0.9474 9 0.44086 T 0.13 . 17.6719 0.88221 0.0:0.8674:0.1326:0.0 rs2070418;rs56928974;rs2070418 247;247;247 F5GZ53;B7ZLR6;Q13009 .;.;TIAM1_HUMAN R 247;88;247 ENSP00000286827:G247R;ENSP00000441570:G247R ENSP00000286827:G247R G - 1 0 TIAM1 31560421 0.911000 0.30947 0.998000 0.56505 0.993000 0.82548 2.031000 0.41117 2.803000 0.96430 0.585000 0.79938 GGG NOVEL TIAM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192552.1 2 18.35857 KEEP 0 0 0 61 2114 CC 1 1 0 - 13 60 472 1 0 27.6589 455 60 16245 669 ENST00000286827.3 0.027778 1 SOD1 6647 __UNKNOWN__ __UNKNOWN__ 21 33036283 33036283 __UNKNOWN__ Intron SNP C C T rs536586198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33036283C>T ENST00000270142.6 + 2 317 SOD1_ENST00000470944.1_Intron|SOD1_ENST00000389995.4_Intron NM_000454.4 NP_000445.1 P00441 SODC_HUMAN superoxide dismutase 1, soluble NA NA activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234) chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270) NS(1)|endometrium(2)|kidney(1) 4 Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163) GTTAAAACCCCTCAACTTGtt 0.493 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 19357 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY049787, X02317 CCDS33536.1 21q22.11 2014-09-17 2008-07-31 ENSG00000142168 ENSG00000142168 6647 1.15.1.1 11179 protein-coding gene gene with protein product 147450 amyotrophic lateral sclerosis 1 (adult) ALS, ALS1 NA 8446170 Standard NM_000454 NM_000454 NA Approved IPOA uc002ypa.3 P00441 OTTHUMG00000084878 ENST00000270142.6:c.169+84C>T chr21.hg19:g.33036283C>T NA A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85 hg19 CCDS33536.1 0.02 2.117489 CCCxTCA COVERED NOVEL SOD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192585.2 2 7.222755 KEEP 0 0 0 24 845 CC 0.999909 0.993613 0 + 4 60 147 0 0 10.084281 61 60 2347 98 ENST00000270142.6 0.061538 0.993703 HUNK 30811 __UNKNOWN__ __UNKNOWN__ 21 33371123 33371123 __UNKNOWN__ Missense_Mutation SNP C C T rs10775648 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33371123C>T ENST00000270112.2 + 11 2131 c.1771C>T c.(1771-1773)Cgc>Tgc p.R591C NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 591 NA R -> C (in dbSNP:rs10775648). {ECO:0000269|PubMed:17344846}. multicellular organismal development (GO:0007275)|signal transduction (GO:0007165) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CAGCTTGGCTCGCAGAAATTC 0.567 NA C||| 1051 0.209864 0.0431 0.2378 5008 , , NA 17721 0.2897 NA 0.2256 False NA ,,, NA NA NA 2504 0.317 NA NA NA NA 0 C CYS/ARG 351,4055 182.9+/-210.6 12,327,1864 56 48 51 1771 3.5 0 21 dbSNP_120 51 1960,6640 345.9+/-325.9 234,1492,2574 yes missense HUNK NM_014586.1 180 246,1819,4438 TT,TC,CC 22.7907,7.9664,17.7687 probably-damaging 591/715 33371123 2311,10695 2203 4300 6503 SO:0001583 missense AJ271722 CCDS13610.1 21q22.1 2008-06-05 2008-06-05 ENSG00000142149 ENSG00000142149 30811 13326 protein-coding gene gene with protein product 606532 hormonally upregulated Neu-associated kinase NA 10662544, 10830953 Standard NM_014586 NM_014586 NA Approved uc002yph.3 P57058 OTTHUMG00000085019 ENST00000270112.2:c.1771C>T chr21.hg19:g.33371123C>T ENSP00000270112:p.Arg591Cys NA hg19 CCDS13610.1 0.02 18.97997 GCTxGCA COVERED 458 0.2097069597069597 21 0.042682926829268296 81 0.22375690607734808 195 0.3409090909090909 161 0.21240105540897097 C 15.63 2.890611 0.52014 0.079664 0.227907 ENSG00000142149 ENST00000270112 T 0.70869 -0.52 4.39 3.5 0.40072 . 0.236050 0.33772 N 0.004580 T 0.00012 0.0000 N 0.24115 0.695 0.80722 P 0.0 D 0.62365 0.991 P 0.47528 0.549 T 0.15723 -1.0427 9 0.62326 D 0.03 -14.5311 8.5968 0.33721 0.0:0.7514:0.157:0.0916 rs10775648;rs58214837;rs10775648 591 P57058 HUNK_HUMAN C 591 ENSP00000270112:R591C ENSP00000270112:R591C R + 1 0 HUNK 32292994 0.165000 0.22948 0.001000 0.08648 0.901000 0.52897 3.127000 0.50484 1.050000 0.40346 0.491000 0.48974 CGC NOVEL HUNK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192782.1 5 20.463407 KEEP 0 0 0 68 2274 CC 1 1 0 + 16 60 575 0 0 34.854124 453 60 15889 656 ENST00000270112.2 0.034115 1 HUNK 30811 __UNKNOWN__ __UNKNOWN__ 21 33372446 33372446 __UNKNOWN__ 3'UTR SNP C C T rs2833598 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33372446C>T ENST00000270112.2 + 0 3454 NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase NA NA multicellular organismal development (GO:0007275)|signal transduction (GO:0007165) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 ACAGCTGGTTCTGTAGAAAGA 0.498 NA C||| 1062 0.212061 0.0439 0.2363 5008 , , NA 20283 0.2996 NA 0.2256 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ271722 CCDS13610.1 21q22.1 2008-06-05 2008-06-05 ENSG00000142149 ENSG00000142149 30811 13326 protein-coding gene gene with protein product 606532 hormonally upregulated Neu-associated kinase NA 10662544, 10830953 Standard NM_014586 NM_014586 NA Approved uc002yph.3 P57058 OTTHUMG00000085019 ENST00000270112.2:c.*949C>T chr21.hg19:g.33372446C>T NA hg19 CCDS13610.1 0.02 8.801425 GTTxTGT COVERED NOVEL HUNK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192782.1 3 7.223015 KEEP 0 0 0 24 844 CC 0.999909 0.999909 0 + 12 60 445 0 0 29.431095 233 60 8732 312 ENST00000270112.2 0.04898 1 HUNK 30811 __UNKNOWN__ __UNKNOWN__ 21 33372998 33372998 __UNKNOWN__ 3'UTR SNP A A G rs78570444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33372998A>G ENST00000270112.2 + 0 4006 NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase NA NA multicellular organismal development (GO:0007275)|signal transduction (GO:0007165) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 ACACAAATCTAGAATTGCAAA 0.498 NA A||| 425 0.0848642 0.0045 0.0735 5008 , , NA 19989 0.125 NA 0.0706 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ271722 CCDS13610.1 21q22.1 2008-06-05 2008-06-05 ENSG00000142149 ENSG00000142149 30811 13326 protein-coding gene gene with protein product 606532 hormonally upregulated Neu-associated kinase NA 10662544, 10830953 Standard NM_014586 NM_014586 NA Approved uc002yph.3 P57058 OTTHUMG00000085019 ENST00000270112.2:c.*1501A>G chr21.hg19:g.33372998A>G NA hg19 CCDS13610.1 0.02 7.104177 TCTxGAA COVERED NOVEL HUNK-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192782.1 0 6.318296 KEEP 0 0 0 21 643 AA 0.999869 0.999869 0 + 8 60 304 0 0 19.834938 181 60 6704 245 ENST00000270112.2 0.042328 1 URB1 9875 __UNKNOWN__ __UNKNOWN__ 21 33717877 33717877 __UNKNOWN__ Silent SNP G G A rs2833779 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33717877G>A ENST00000382751.3 - 23 3991 c.3876C>T c.(3874-3876)tcC>tcT p.S1292S NM_014825.2 NP_055640.2 O60287 NPA1P_HUMAN URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 1292 NA nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1) 19 GAATGACAGCGGAAGACACTA 0.537 NA G||| 866 0.172923 0.2958 0.0908 5008 , , NA 20039 0.1379 NA 0.1213 False NA ,,, NA NA NA 2504 0.1544 NA NA NA NA 0 G 386,998 59,268,365 26 26 26 3876 -6.5 0.6 21 dbSNP_100 26 404,2778 29,346,1216 no coding-synonymous URB1 NM_014825.2 88,614,1581 AA,AG,GG 12.6964,27.8902,17.3018 1292/2272 33717877 790,3776 692 1591 2283 SO:0001819 synonymous_variant AB011111 CCDS46645.1 21q22.11 2006-11-28 2006-11-28 2006-11-28 ENSG00000142207 ENSG00000142207 9875 17344 protein-coding gene gene with protein product nucleolar preribosomal-associated protein 1 608865 chromosome 21 open reading frame 108 C21orf108 NA 9628581 Standard NM_014825 NA Approved KIAA0539, NPA1 uc002ypn.2 O60287 OTTHUMG00000064919 ENST00000382751.3:c.3876C>T chr21.hg19:g.33717877G>A NA D3DSE5|Q96NX1|Q9NYQ1 hg19 CCDS46645.1 0.02 1.97715 AGCxGAA COVERED NOVEL URB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139400.2 0 5.417084 KEEP 0 0 0 18 602 GG 0.999859 0.999177 0 - 6 60 222 0 0 15.776013 75 60 2688 108 ENST00000382751.3 0.074074 0.999317 URB1 9875 __UNKNOWN__ __UNKNOWN__ 21 33733461 33733461 __UNKNOWN__ Intron SNP A A G rs561754579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33733461A>G ENST00000382751.3 - 13 1755 NM_014825.2 NP_055640.2 O60287 NPA1P_HUMAN URB1 ribosome biogenesis 1 homolog (S. cerevisiae) NA NA nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1) 19 aagaaagaaaaagagaaaaaa 0.353 NA A||| 4547 0.907947 0.969 0.9481 5008 , , NA 23030 0.751 NA 0.9235 False NA ,,, NA NA NA 2504 0.9427 NA NA NA NA 0 29 27 28 NA NA 21 NA 33733461 692 1591 2283 SO:0001627 intron_variant AB011111 CCDS46645.1 21q22.11 2006-11-28 2006-11-28 2006-11-28 ENSG00000142207 ENSG00000142207 9875 17344 protein-coding gene gene with protein product nucleolar preribosomal-associated protein 1 608865 chromosome 21 open reading frame 108 C21orf108 NA 9628581 Standard NM_014825 NA Approved KIAA0539, NPA1 uc002ypn.2 O60287 OTTHUMG00000064919 ENST00000382751.3:c.1640-29T>C chr21.hg19:g.33733461A>G NA D3DSE5|Q96NX1|Q9NYQ1 hg19 CCDS46645.1 0.02 2.422515 AAAxAGA COVERED NOVEL URB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139400.2 1 6.610788 KEEP 0 0 0 22 611 AA 0.999879 0.970703 0 - 5 60 194 0 0 14.594459 48 60 1668 83 ENST00000382751.3 0.09434 0.97082 URB1 9875 __UNKNOWN__ __UNKNOWN__ 21 33733463 33733463 __UNKNOWN__ Intron SNP G G A rs543890325 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33733463G>A ENST00000382751.3 - 13 1755 NM_014825.2 NP_055640.2 O60287 NPA1P_HUMAN URB1 ribosome biogenesis 1 homolog (S. cerevisiae) NA NA nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1) 19 gaaagaaaaagagaaaaaaga 0.348 NA G||| 4547 0.907947 0.969 0.9481 5008 , , NA 21376 0.751 NA 0.9235 False NA ,,, NA NA NA 2504 0.9427 NA NA NA NA 0 28 27 27 NA NA 21 NA 33733463 692 1591 2283 SO:0001627 intron_variant AB011111 CCDS46645.1 21q22.11 2006-11-28 2006-11-28 2006-11-28 ENSG00000142207 ENSG00000142207 9875 17344 protein-coding gene gene with protein product nucleolar preribosomal-associated protein 1 608865 chromosome 21 open reading frame 108 C21orf108 NA 9628581 Standard NM_014825 NA Approved KIAA0539, NPA1 uc002ypn.2 O60287 OTTHUMG00000064919 ENST00000382751.3:c.1640-31C>T chr21.hg19:g.33733463G>A NA D3DSE5|Q96NX1|Q9NYQ1 hg19 CCDS46645.1 0.02 2.340163 AAAxAGA COVERED NOVEL URB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139400.2 1 6.003496 KEEP 0 0 0 20 657 GG 0.999863 0.963642 0 - 5 60 187 0 0 13.9823 46 60 1678 77 ENST00000382751.3 0.098039 0.963774 URB1 9875 __UNKNOWN__ __UNKNOWN__ 21 33757947 33757947 __UNKNOWN__ Missense_Mutation SNP A A T rs58978310 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:33757947A>T ENST00000382751.3 - 2 304 c.189T>A c.(187-189)gaT>gaA p.D63E NM_014825.2 NP_055640.2 O60287 NPA1P_HUMAN URB1 ribosome biogenesis 1 homolog (S. cerevisiae) 63 NA nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1) 19 CATCATACACATCTTCTCGTG 0.388 NA A||| 603 0.120407 0.2443 0.0821 5008 , , NA 18902 0.0417 NA 0.1133 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 A GLU/ASP 317,1067 32,253,407 184 140 154 189 -7.4 0 21 dbSNP_129 154 369,2813 27,315,1249 yes missense URB1 NM_014825.2 45 59,568,1656 TT,TA,AA 11.5965,22.9046,15.0241 benign 63/2272 33757947 686,3880 692 1591 2283 SO:0001583 missense AB011111 CCDS46645.1 21q22.11 2006-11-28 2006-11-28 2006-11-28 ENSG00000142207 ENSG00000142207 9875 17344 protein-coding gene gene with protein product nucleolar preribosomal-associated protein 1 608865 chromosome 21 open reading frame 108 C21orf108 NA 9628581 Standard NM_014825 NA Approved KIAA0539, NPA1 uc002ypn.2 O60287 OTTHUMG00000064919 ENST00000382751.3:c.189T>A chr21.hg19:g.33757947A>T ENSP00000372199:p.Asp63Glu NA D3DSE5|Q96NX1|Q9NYQ1 hg19 CCDS46645.1 0.02 16.113844 CACxTCT COVERED 250 0.11446886446886446 114 0.23170731707317074 31 0.0856353591160221 22 0.038461538461538464 83 0.10949868073878628 A 8.880 0.951322 0.18431 0.229046 0.115965 ENSG00000142207 ENST00000382751 T 0.31510 1.49 5.29 -7.38 0.01407 . 0.198259 0.41823 D 0.000815 T 0.00012 0.0000 N 0.19112 0.55 0.58432 P 5.000000000032756E-6 B 0.21071 0.051 B 0.12156 0.007 T 0.25012 -1.0144 9 0.19590 T 0.45 -17.1729 3.9847 0.09511 0.4121:0.2161:0.2974:0.0745 rs58978310 63 O60287 NPA1P_HUMAN E 63 ENSP00000372199:D63E ENSP00000372199:D63E D - 3 2 URB1 32679818 0.000000 0.05858 0.001000 0.08648 0.523000 0.34469 -1.471000 0.02344 -1.062000 0.03181 -0.464000 0.05259 GAT NOVEL URB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000139400.2 0 40.320742 KEEP 0 0 0 134 4221 AA 1 1 0 - 19 60 702 0 0 46.126077 380 60 13905 693 ENST00000382751.3 0.047619 1 C21orf54 728409 __UNKNOWN__ __UNKNOWN__ 21 34542356 34542356 __UNKNOWN__ Intron SNP A A G rs2834118 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34542356A>G ENST00000451980.2 - 1 96 chromosome 21 open reading frame 54 NA NA NA TCTTGTCCTAAGTTCCCAGGC 0.488 NA A||| 808 0.161342 0.0499 0.183 5008 , , NA 19101 0.1637 NA 0.2058 False NA ,,, NA NA NA 2504 0.2485 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant 21q22.11 2013-01-15 ENSG00000229086 ENSG00000229086 728409 1296 other unknown NA Standard NR_024102 NR_024102 NA Approved uc002yra.4 A6NM66 OTTHUMG00000065061 ENST00000451980.2:c.29+89T>C chr21.hg19:g.34542356A>G NA hg19 0.02 16.866784 CTAxGTT COVERED NOVEL C21orf54-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000139727.3 1 13.239572 KEEP 0 0 0 44 1373 AA 1 1 0 - 15 60 557 0 0 36.029094 342 60 11944 490 ENST00000451980.2 0.042017 1 IFNAR2 3455 __UNKNOWN__ __UNKNOWN__ 21 34614255 34614255 __UNKNOWN__ Missense_Mutation SNP T T G rs1051393 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34614255T>G ENST00000342136.4 + 2 354 c.28T>G c.(28-30)Ttc>Gtc p.F10V IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000404220.3_Missense_Mutation_p.F10V|IFNAR2_ENST00000382241.3_Missense_Mutation_p.F10V|IFNAR2_ENST00000382264.3_Missense_Mutation_p.F10V|IFNAR2_ENST00000413881.1_Intron|IFNAR2_ENST00000342101.3_Missense_Mutation_p.F10V P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 10 NA F -> V (in dbSNP:rs1051393). {ECO:0000269|PubMed:16757563, ECO:0000269|PubMed:7759950, ECO:0000269|PubMed:8181059, ECO:0000269|Ref.5, ECO:0000269|Ref.6}. cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 "Interferon Alfa-2a(DB00034)|"Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TGCCTTCATCTTCAGATCACT 0.393 NA G||| 1962 0.391773 0.171 0.4481 5008 , , NA 20781 0.5754 NA 0.333 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 GRCh37 CM057711 IFNAR2 M rs1051393 G VAL/PHE,VAL/PHE,VAL/PHE 828,3578 747.1+/-411.8 86,656,1461 191 170 177 28,28,28 -7.2 0 21 dbSNP_86 177 2726,5874 681.0+/-403.7 408,1910,1982 yes missense,missense,missense IFNAR2 NM_000874.3,NM_207584.1,NM_207585.1 50,50,50 494,2566,3443 GG,GT,TT 31.6977,18.7926,27.3258 benign,benign,benign 10/332,10/332,10/516 34614255 3554,9452 2203 4300 6503 SO:0001583 missense CCDS13621.1, CCDS13622.1, CCDS74782.1 21q22.1 2010-08-17 ENSG00000159110 ENSG00000159110 3455 Interferons 5433 protein-coding gene gene with protein product 602376 IFNABR NA 8181059 Standard NM_207585 NA Approved uc002yrd.3 P48551 OTTHUMG00000065127 ENST00000342136.4:c.28T>G chr21.hg19:g.34614255T>G ENSP00000343957:p.Phe10Val NA A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7 hg19 CCDS13621.1 0.02 15.512487 ATCxTCA COVERED 835 0.3823260073260073 82 0.16666666666666666 158 0.43646408839779005 342 0.5979020979020979 253 0.3337730870712401 G 5.665 0.307370 0.10733 0.187926 0.316977 ENSG00000159110 ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000447980 T;T;T;T;T;T 0.26810 2.14;2.14;2.19;2.19;2.18;1.71 4.51 -7.2 0.01495 . 1.247330 0.05490 N 0.556450 T 0.00012 0.0000 N 0.00707 -1.245 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.38436 -0.9661 9 0.02654 T 1 . 6.9718 0.24652 0.2442:0.0:0.513:0.2429 rs1051393;rs2229208;rs3191789;rs4986955;rs7279064;rs17413985;rs17856075;rs17860177;rs52819787;rs7279064 10;10;10 P48551-3;P48551;P48551-2 .;INAR2_HUMAN;. V 10;10;10;10;10;34 ENSP00000371699:F10V;ENSP00000384309:F10V;ENSP00000371676:F10V;ENSP00000343957:F10V;ENSP00000343289:F10V;ENSP00000402311:F34V ENSP00000343289:F10V F + 1 0 IFNAR2 33536125 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -2.080000 0.01368 -1.939000 0.01044 -1.389000 0.01157 TTC NOVEL IFNAR2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139825.1 3 21.066312 KEEP 0 0 0 70 2300 TT 1 1 0 + 12 60 421 1 0 23.887322 432 60 16106 637 ENST00000342136.4 0.027027 1 IFNAR2 3455 __UNKNOWN__ __UNKNOWN__ 21 34635065 34635065 __UNKNOWN__ Intron SNP C C T rs9984273 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34635065C>T ENST00000342136.4 + 9 1166 IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_Intron P48551 INAR2_HUMAN interferon (alpha, beta and omega) receptor 2 NA NA cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337) extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905) cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 11 "Interferon Alfa-2a(DB00034)|"Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) ACAGCTGATACGGACTCTCTC 0.408 NA T||| 3692 0.73722 0.5719 0.8112 5008 , , NA 13922 0.8978 NA 0.6829 False NA ,,, NA NA NA 2504 0.7986 NA NA NA NA 0 T 2556,1602 815,926,338 25 29 28 -2.9 0 21 dbSNP_119 28 5665,2691 2008,1649,521 no intron IFNAR2 NM_207585.1 2823,2575,859 TT,TC,CC 32.2044,38.5281,34.3056 34635065 8221,4293 2079 4178 6257 SO:0001627 intron_variant CCDS13621.1, CCDS13622.1, CCDS74782.1 21q22.1 2010-08-17 ENSG00000159110 ENSG00000159110 3455 Interferons 5433 protein-coding gene gene with protein product 602376 IFNABR NA 8181059 Standard NM_207585 NA Approved uc002yrd.3 P48551 OTTHUMG00000065127 ENST00000342136.4:c.841-33C>T chr21.hg19:g.34635065C>T NA A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7 hg19 CCDS13621.1 0.02 16.935619 ATAxGGA COVERED NOVEL IFNAR2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000139825.1 1 18.18762 KEEP 0 4 127 105 3567 CC 1 1 0 + 23 60 852 1 0 57.413017 399 60 14309 668 ENST00000342136.4 0.054502 1 AP000295.9 0 __UNKNOWN__ __UNKNOWN__ 21 34638031 34638031 __UNKNOWN__ Intron SNP C C T rs999788 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34638031C>T ENST00000433395.2 + 4 432 IL10RB-AS1_ENST00000411998.1_RNA NA NA NA ATTGGTGCACCTGCCGGCATC 0.493 NA C||| 1522 0.303914 0.1014 0.3516 5008 , , NA 18337 0.5556 NA 0.1988 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000433395.2:c.433-2668C>T chr21.hg19:g.34638031C>T NA hg19 0.02 4.012504 CACxTGC COVERED NOVEL AP000295.9-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000366943.2 2 10.770005 KEEP 0 1 32 47 1652 CC 1 1 0 + 5 60 183 0 0 11.259864 139 60 5145 222 ENST00000433395.2 0.034722 1 GART 2618 __UNKNOWN__ __UNKNOWN__ 21 34883618 34883618 __UNKNOWN__ Missense_Mutation SNP T T C rs8971 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34883618T>C ENST00000381831.3 - 17 2518 c.2255A>G c.(2254-2256)gAt>gGt p.D752G GART_ENST00000543717.1_Missense_Mutation_p.D304G|GART_ENST00000381839.3_Missense_Mutation_p.D752G|GART_ENST00000381815.4_Missense_Mutation_p.D752G NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 752 AIRS. NA D -> G (in dbSNP:rs8971). 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) CTGCTGGATATCCCTCAGAAT 0.473 NA T||| 762 0.152157 0.0166 0.2262 5008 , , NA 18600 0.1647 NA 0.2694 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 T GLY/ASP,GLY/ASP,GLY/ASP 265,4141 150.7+/-184.7 6,253,1944 223 209 214 2255,2255,2255 4.4 0 21 dbSNP_52 214 1993,6607 349.2+/-327.3 225,1543,2532 yes missense,missense,missense GART NM_000819.4,NM_001136005.1,NM_001136006.1 94,94,94 231,1796,4476 CC,CT,TT 23.1744,6.0145,17.3612 benign,benign,benign 752/1011,752/1011,752/1011 34883618 2258,10748 2203 4300 6503 SO:0001583 missense M32082 CCDS13627.1, CCDS13628.1 21q22.11 2012-10-02 ENSG00000159131 ENSG00000159131 2618 2.1.2.2, 6.3.3.1, 6.3.4.13 4163 protein-coding gene gene with protein product 138440 PRGS, PGFT NA 2050105 Standard NM_000819 NM_001136005 NA Approved uc002yrx.3 P22102 OTTHUMG00000065628 ENST00000381831.3:c.2255A>G chr21.hg19:g.34883618T>C ENSP00000371253:p.Asp752Gly NA A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77 hg19 CCDS13627.1 0.02 13.988779 ATAxCCC COVERED 381 0.17445054945054944 12 0.024390243902439025 91 0.2513812154696133 87 0.1520979020979021 191 0.2519788918205805 T 13.62 2.290807 0.40494 0.060145 0.231744 ENSG00000159131 ENST00000414353;ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717 T;T;T;T 0.17213 2.29;2.29;2.29;2.29 5.6 4.42 0.53409 AIR synthase-related protein, C-terminal (2); 0.253151 0.40728 N 0.001031 T 0.00012 0.0000 L 0.52126 1.63 0.20638 P 0.999876375 B 0.19935 0.04 B 0.29440 0.102 T 0.36672 -0.9738 9 0.23891 T 0.37 -9.7444 12.6803 0.56918 0.0:0.0:0.1379:0.8621 rs8971;rs1050984;rs3171429;rs17353783;rs17382501;rs52807185;rs58505477;rs8971 752 P22102 PUR2_HUMAN G 16;752;752;752;304 ENSP00000371236:D752G;ENSP00000371253:D752G;ENSP00000371261:D752G;ENSP00000443579:D304G ENSP00000371236:D752G D - 2 0 GART 33805488 1.000000 0.71417 0.033000 0.17914 0.963000 0.63663 5.737000 0.68606 0.929000 0.37192 0.533000 0.62120 GAT NOVEL GART-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140626.3 2 28.88598 KEEP 0 0 0 96 3034 TT 1 1 0 - 10 60 379 0 0 23.466077 302 60 10896 510 ENST00000381831.3 0.032051 1 GART 2618 __UNKNOWN__ __UNKNOWN__ 21 34896962 34896962 __UNKNOWN__ Intron SNP C C G rs1804385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34896962C>G ENST00000381831.3 - 11 1562 GART_ENST00000361093.5_3'UTR|GART_ENST00000381839.3_Intron|GART_ENST00000381815.4_Intron NM_001136005.1 NP_001129477.1 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase NA NA 'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644) NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1) 31 Pemetrexed(DB00642) GACTGTATCACTCCCACAGAG 0.348 NA G||| 843 0.168331 0.0741 0.232 5008 , , NA 16473 0.1657 NA 0.2694 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M32082 CCDS13627.1, CCDS13628.1 21q22.11 2012-10-02 ENSG00000159131 ENSG00000159131 2618 2.1.2.2, 6.3.3.1, 6.3.4.13 4163 protein-coding gene gene with protein product 138440 PRGS, PGFT NA 2050105 Standard NM_000819 NM_001136005 NA Approved uc002yrx.3 P22102 OTTHUMG00000065628 ENST00000381831.3:c.1298+113G>C chr21.hg19:g.34896962C>G NA A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77 hg19 CCDS13627.1 0.02 4.114383 TCAxTCC COVERED NOVEL GART-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000140626.3 0 2.243845 KEEP 0 1 36 20 728 CC 0.999869 0.999868 0 - 5 60 176 0 0 10.948723 116 70 4454 157 ENST00000381831.3 0.041322 0.999999 SON 6651 __UNKNOWN__ __UNKNOWN__ 21 34925689 34925689 __UNKNOWN__ Silent SNP G G A rs61739710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34925689G>A ENST00000381679.4 + 3 4180 c.4152G>A c.(4150-4152)ctG>ctA p.L1384L SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.L1384L|SON_ENST00000290239.6_Silent_p.L1384L|SON_ENST00000356577.4_Silent_p.L1384L P18583 SON_HUMAN SON DNA binding protein 1384 4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT. NA cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380) nuclear speck (GO:0016607)|nucleus (GO:0005634) DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TAACTGTCCTGGAGCCTTCGG 0.567 NA G||| 881 0.175919 0.0189 0.2421 5008 , , NA 20839 0.1637 NA 0.3082 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 G , 281,4125 156.6+/-189.7 10,261,1932 80 72 75 4152,4152 -5.8 0 21 dbSNP_129 75 2385,6215 396.7+/-345.5 322,1741,2237 no coding-synonymous,coding-synonymous SON NM_032195.1,NM_138927.1 , 332,2002,4169 AA,AG,GG 27.7326,6.3777,20.4982 , 1384/2304,1384/2427 34925689 2666,10340 2203 4300 6503 SO:0001819 synonymous_variant AF380181 CCDS13629.1, CCDS13631.1, CCDS74784.1 21q22.1-q22.2 2013-01-28 ENSG00000159140 ENSG00000159140 6651 G patch domain containing 11183 protein-coding gene gene with protein product NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1 182465 C21orf50 NA 8318737, 21551269 Standard NM_138927 NM_032195 NA Approved DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914 uc002yse.1 P18583 OTTHUMG00000065806 ENST00000381679.4:c.4152G>A chr21.hg19:g.34925689G>A NA D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0 hg19 0.02 20.217604 CCTxGAG COVERED 421 0.19276556776556777 14 0.028455284552845527 97 0.26795580110497236 86 0.15034965034965034 224 0.2955145118733509 G 3.643 -0.073046 0.07228 0.063777 0.277326 ENSG00000159140 ENST00000436227 . . . 4.95 -5.81 0.02340 . . . . . . . . . . . 0.09310 P 0.999999058328 . . . . . . . . . . . . . . 5.1717 0.15114 0.1924:0.0:0.3331:0.4745 rs61739710 . . . X 379 . . W + 2 0 SON 33847559 0.000000 0.05858 0.001000 0.08648 0.004000 0.04260 -1.279000 0.02807 -1.193000 0.02688 -1.077000 0.02231 TGG NOVEL SON-006 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000140982.3 3 35.985726 KEEP 0 2 61 141 4996 GG 1 1 0 + 15 60 574 0 0 35.483511 472 60 17747 782 ENST00000381679.4 0.030801 1 CRYZL1 9946 __UNKNOWN__ __UNKNOWN__ 21 34968503 34968503 __UNKNOWN__ Intron SNP A A G rs2834240 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:34968503A>G ENST00000445393.1 - 6 519 CRYZL1_ENST00000480893.1_Intron|CRYZL1_ENST00000381554.3_Intron|CRYZL1_ENST00000361534.2_Intron|CRYZL1_ENST00000381540.3_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Intron O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 NA NA quinone metabolic process (GO:1901661) cytosol (GO:0005829) NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270) lung(1)|prostate(1)|urinary_tract(1) 3 TGTAACTAGAATGCTGAAAAA 0.294 NA A||| 519 0.103634 0.0098 0.1787 5008 , , NA 18510 0.1419 NA 0.1402 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF029689 CCDS13633.2 21q22.1 2008-07-31 ENSG00000205758 ENSG00000205758 9946 2420 protein-coding gene gene with protein product quinone reductase-like 1 603920 NA 10191096 Standard NM_145858 NM_145858 NA Approved QOH-1, 4P11 uc021wio.1 O95825 OTTHUMG00000065954 ENST00000445393.1:c.463+6036T>C chr21.hg19:g.34968503A>G NA B2RDX1|B3KQ77|Q96DY0|Q9NVY7 hg19 0.02 13.17467 AGAxTGC COVERED NOVEL CRYZL1-024 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337118.1 4 14.740186 KEEP 0 0 0 49 1500 AA 1 1 0 - 19 60 622 0 0 39.693847 329 60 12072 457 ENST00000445393.1 0.054598 1 CRYZL1 9946 __UNKNOWN__ __UNKNOWN__ 21 35003846 35003846 __UNKNOWN__ Silent SNP T T C rs145481615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35003846T>C ENST00000445393.1 - 2 67 c.12A>G c.(10-12)ttA>ttG p.L4L CRYZL1_ENST00000290244.5_Silent_p.L4L|CRYZL1_ENST00000361534.2_Silent_p.L28L|CRYZL1_ENST00000381554.3_Silent_p.L4L|CRYZL1_ENST00000381540.3_Silent_p.L4L|CRYZL1_ENST00000413017.2_Silent_p.L4L|AP000304.12_ENST00000429238.1_Intron O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 4 NA quinone metabolic process (GO:1901661) cytosol (GO:0005829) NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270) lung(1)|prostate(1)|urinary_tract(1) 3 GTTGGAAATATAAGCCTTTCA 0.264 NA T||| 10 0.00199681 0.0 0.0014 5008 , , NA 14286 0.0079 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 T 1,4369 2.1+/-5.4 0,1,2184 42 47 45 12 -1.2 1 21 dbSNP_134 45 4,8528 3.7+/-12.6 0,4,4262 no coding-synonymous CRYZL1 NM_145858.2 0,5,6446 CC,CT,TT 0.0469,0.0229,0.0388 4/350 35003846 5,12897 2185 4266 6451 SO:0001819 synonymous_variant AF029689 CCDS13633.2 21q22.1 2008-07-31 ENSG00000205758 ENSG00000205758 9946 2420 protein-coding gene gene with protein product quinone reductase-like 1 603920 NA 10191096 Standard NM_145858 NM_145858 NA Approved QOH-1, 4P11 uc021wio.1 O95825 OTTHUMG00000065954 ENST00000445393.1:c.12A>G chr21.hg19:g.35003846T>C NA B2RDX1|B3KQ77|Q96DY0|Q9NVY7 hg19 0.02 6.478894 ATAxAAG COVERED NOVEL CRYZL1-024 NOVEL not_organism_supported|basic|exp_conf protein_coding NA protein_coding OTTHUMT00000337118.1 0 19.860005 KEEP 0 0 0 66 2070 TT 1 1 0 - 8 60 300 0 0 19.379711 184 60 6722 324 ENST00000445393.1 0.041667 1 ITSN1 6453 __UNKNOWN__ __UNKNOWN__ 21 35190802 35190802 __UNKNOWN__ Intron SNP T T C rs2236613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35190802T>C ENST00000399367.3 + 22 3181 ITSN1_ENST00000399352.1_Intron|ITSN1_ENST00000399353.1_Intron|ITSN1_ENST00000381291.4_Intron|ITSN1_ENST00000399326.3_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Intron|ITSN1_ENST00000381318.3_Intron|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399355.2_Intron Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) NA NA apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488) cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202) calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCTGCTTGTATTTGATGAAAA 0.378 NA T||| 861 0.171925 0.0908 0.2896 5008 , , NA 20351 0.2996 NA 0.0934 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 T , 409,3997 191.2+/-216.9 15,379,1809 84 85 84 , 0.4 0 21 dbSNP_98 84 692,7908 165.5+/-217.6 28,636,3636 no intron,intron ITSN1 NM_001001132.1,NM_003024.2 , 43,1015,5445 CC,CT,TT 8.0465,9.2828,8.4653 , , 35190802 1101,11905 2203 4300 6503 SO:0001627 intron_variant AF064244 CCDS33545.1, CCDS33546.1 21q22.1-q22.2 2013-01-10 ENSG00000205726 ENSG00000205726 6453 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing, EF-hand domain containing 6183 protein-coding gene gene with protein product SH3 domain protein-1A, human intersectin-SH3 domain-containing protein SH3P17, Src homology 3 domain-containing protein, intersectin 1 short form variant, 11, intersectin 1 short form variant 3, intersectin short variant 12 602442 SH3D1A, ITSN NA 9799604, 9813051 Standard NM_003024 NM_003024 NA Approved SH3P17, MGC134948, MGC134949 uc002yta.1 Q15811 OTTHUMG00000065284 ENST00000399367.3:c.2918+26T>C chr21.hg19:g.35190802T>C NA A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92 hg19 0.02 6.924152 GTAxTTG COVERED NOVEL ITSN1-023 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000313582.1 0 7.222858 KEEP 0 0 0 24 798 TT 0.999909 0.999909 0 + 7 60 271 0 0 17.880538 157 60 5570 190 ENST00000399367.3 0.042683 1 AP000304.12 0 __UNKNOWN__ __UNKNOWN__ 21 35267017 35267017 __UNKNOWN__ Intron SNP C C T rs77596640 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35267017C>T ENST00000429238.1 - 3 286 ITSN1_ENST00000381318.3_3'UTR NA NA NA TGCTTCTCTTCGCTTTTGCAT 0.398 NA OREG0026172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 604 0.120607 0.0121 0.1628 5008 , , NA 16731 0.2321 NA 0.0875 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000429238.1:c.286+12627G>A chr21.hg19:g.35267017C>T 854 hg19 0.02 4.270446 CTTxGCT COVERED NOVEL AP000304.12-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000368258.1 0 9.027334 KEEP 0 0 0 30 998 CC 0.999997 0.999997 0 - 6 60 223 0 0 14.690732 120 60 4106 178 ENST00000429238.1 0.047619 1 AP000304.12 0 __UNKNOWN__ __UNKNOWN__ 21 35268377 35268377 __UNKNOWN__ Intron SNP C C A rs74609750 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35268377C>A ENST00000429238.1 - 3 286 ITSN1_ENST00000381318.3_3'UTR NA NA NA GAAAGGTCTCCCGGCAGGCTG 0.542 NA C||| 597 0.119209 0.0121 0.1686 5008 , , NA 21291 0.2192 NA 0.0895 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000429238.1:c.286+11267G>T chr21.hg19:g.35268377C>A NA hg19 0.02 8.55146 CTCxCGG COVERED NOVEL AP000304.12-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000368258.1 1 17.150245 KEEP 0 0 0 57 1940 CC 1 1 0 - 13 60 447 0 0 29.268028 215 60 7819 333 ENST00000429238.1 0.057018 1 AP000304.12 0 __UNKNOWN__ __UNKNOWN__ 21 35269581 35269581 __UNKNOWN__ Intron SNP G G A rs79932110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35269581G>A ENST00000429238.1 - 3 286 ITSN1_ENST00000381318.3_3'UTR NA NA NA CGGAGTCTGTGCCCTCCATGA 0.517 NA OREG0003575 type=REGULATORY REGION|Gene=AK056104|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay G||| 608 0.121406 0.0121 0.1671 5008 , , NA 19724 0.2321 NA 0.0885 False NA ,,, NA NA NA 2504 0.1564 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000429238.1:c.286+10063C>T chr21.hg19:g.35269581G>A 854 hg19 0.02 8.002443 TGTxCCC COVERED NOVEL AP000304.12-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000368258.1 0 16.855117 KEEP 0 0 0 56 2026 GG 1 1 0 - 8 60 267 0 0 15.778615 202 60 7666 325 ENST00000429238.1 0.038095 1 AP000304.12 0 __UNKNOWN__ __UNKNOWN__ 21 35269964 35269964 __UNKNOWN__ Intron SNP A A G rs12627530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35269964A>G ENST00000429238.1 - 3 286 ITSN1_ENST00000381318.3_3'UTR NA NA NA ATAAACTAACACAGATTCTGT 0.303 NA A||| 622 0.124201 0.0129 0.1715 5008 , , NA 18004 0.2341 NA 0.0895 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000429238.1:c.286+9680T>C chr21.hg19:g.35269964A>G NA hg19 0.02 8.548447 AACxCAG COVERED NOVEL AP000304.12-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000368258.1 1 16.250146 KEEP 0 0 0 54 1740 AA 1 1 0 - 9 60 319 0 0 19.937613 208 60 7531 333 ENST00000429238.1 0.041475 1 AP000304.12 0 __UNKNOWN__ __UNKNOWN__ 21 35270206 35270206 __UNKNOWN__ Intron SNP T T G rs8128790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35270206T>G ENST00000429238.1 - 3 286 ITSN1_ENST00000381318.3_3'UTR NA NA NA AGAAATCAAATGAGTCATTTT 0.318 NA G||| 973 0.194289 0.2496 0.1902 5008 , , NA 17158 0.2659 NA 0.0885 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000429238.1:c.286+9438A>C chr21.hg19:g.35270206T>G NA hg19 0.02 6.575274 AAAxGAG COVERED NOVEL AP000304.12-001 PUTATIVE mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000368258.1 2 14.139751 KEEP 0 0 0 47 1426 TT 1 1 0 - 9 60 320 0 0 20.788221 171 60 6277 261 ENST00000429238.1 0.05 1 SMIM11 54065 __UNKNOWN__ __UNKNOWN__ 21 35772977 35772977 __UNKNOWN__ Intron SNP G G C rs61740755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35772977G>C ENST00000399299.1 + 3 346 AP000322.54_ENST00000410005.1_Missense_Mutation_p.Q132E|SMIM11_ENST00000481710.1_Intron P58511 SIM11_HUMAN small integral membrane protein 11 NA NA integral component of membrane (GO:0016021) NA TTTGGCCTCTGCTCTTCCTGC 0.502 NA G||| 471 0.0940495 0.0136 0.0548 5008 , , NA 20077 0.1885 NA 0.0577 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC015596 CCDS33550.1 21q22.12 2012-12-03 2012-12-03 2012-12-03 ENSG00000205670 ENSG00000205670 54065 1293 protein-coding gene gene with protein product chromosome 21 open reading frame 51, family with sequence similarity 165, member B C21orf51, FAM165B NA Standard NM_058182 NM_058182 NA Approved uc002ytu.4 P58511 OTTHUMG00000086193 ENST00000399299.1:c.201+780G>C chr21.hg19:g.35772977G>C NA hg19 0.02 12.777738 TCTxCTC COVERED 176 0.08058608058608059 6 0.012195121951219513 23 0.06353591160220995 106 0.1853146853146853 41 0.05408970976253298 G 0.005 -2.195783 0.00299 . . ENSG00000222018 ENST00000410005 . . . 5.66 -11.2 0.00127 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.08827 -1.0703 4 0.08179 T 0.78 -15.412 3.6648 0.08252 0.1253:0.292:0.4022:0.1806 rs61740755 . . . E 132 . ENSP00000386791:Q132E Q - 1 0 AP000322.54 34694847 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -1.122000 0.03267 -1.973000 0.00999 -0.808000 0.03180 CAG NOVEL SMIM11-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000194076.1 1 13.543942 KEEP 0 0 0 45 1584 GG 1 1 0 + 11 60 404 0 0 24.78897 314 60 11932 426 ENST00000399299.1 0.033846 1 KCNE1 3753 __UNKNOWN__ __UNKNOWN__ 21 35819082 35819082 __UNKNOWN__ 3'UTR SNP T T C rs13050198 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35819082T>C ENST00000337385.3 - 0 3226 KCNE1_ENST00000399289.3_3'UTR|KCNE1_ENST00000432085.1_3'UTR NM_001270402.1|NM_001270403.1 NP_001257331.1|NP_001257332.1 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related family, member 1 NA NA cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005) cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018) potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249) large_intestine(4)|lung(1)|ovary(2) 7 Indapamide(DB00808) GCCTGCAAAATAATAATTGAG 0.333 NA T||| 273 0.0545128 0.0484 0.0187 5008 , , NA 22026 0.0913 NA 0.0199 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L28168 CCDS13636.1 21q22.1-q22.2 2014-09-17 ENSG00000180509 ENSG00000180509 3753 Potassium channels 6240 protein-coding gene gene with protein product 176261 NA 8432548 Standard NM_001127670 NA Approved minK, ISK, JLNS2, LQT5 uc010gmp.4 P15382 OTTHUMG00000086236 ENST00000337385.3:c.*2461A>G chr21.hg19:g.35819082T>C NA A5H1P2|Q8N709|Q91Z94 hg19 CCDS13636.1 0.02 11.259049 AAAxAAT COVERED NOVEL KCNE1-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194155.1 0 6.319105 KEEP 0 0 0 21 665 TT 0.999869 0.999869 0 - 11 60 417 0 0 26.572339 283 60 10414 372 ENST00000337385.3 0.037415 1 RCAN1 1827 __UNKNOWN__ __UNKNOWN__ 21 35890409 35890409 __UNKNOWN__ Silent SNP C C T rs59601528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35890409C>T ENST00000481448.1 - 5 1188 c.702G>A c.(700-702)ccG>ccA p.P234P RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381135.3_Silent_p.P234P|RCAN1_ENST00000399272.1_Silent_p.P163P|RCAN1_ENST00000381132.2_Silent_p.P189P|RCAN1_ENST00000482533.1_Silent_p.P109P|RCAN1_ENST00000313806.4_Silent_p.P244P|RCAN1_ENST00000443408.2_Silent_p.P109P|RCAN1_ENST00000487990.1_Silent_p.P109P P53805 RCAN1_HUMAN regulator of calcineurin 1 244 NA blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 GCGTGTACTCCGGCCTCCTGG 0.507 NA C||| 649 0.129593 0.0023 0.2248 5008 , , NA 20509 0.375 NA 0.0596 False NA ,,, NA NA NA 2504 0.0532 NA NA NA NA 0 C ,, 65,4341 61.7+/-98.7 0,65,2138 180 160 167 732,327,567 -9.2 0.6 21 dbSNP_129 167 483,8117 141.9+/-198.1 21,441,3838 no coding-synonymous,coding-synonymous,coding-synonymous RCAN1 NM_004414.5,NM_203417.1,NM_203418.1 ,, 21,506,5976 TT,TC,CC 5.6163,1.4753,4.2134 ,, 244/253,109/118,189/198 35890409 548,12458 2203 4300 6503 SO:0001819 synonymous_variant CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1 21q22.1-q22.2 2010-08-11 2007-06-26 2007-06-26 ENSG00000159200 ENSG00000159200 1827 3040 protein-coding gene gene with protein product 602917 Down syndrome critical region gene 1 DSCR1 NA 8595418 Standard XM_005260929 NA Approved uc002yue.3 P53805 OTTHUMG00000086235 ENST00000481448.1:c.702G>A chr21.hg19:g.35890409C>T NA D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4 hg19 0.02 4.209502 CTCxGGC COVERED NOVEL RCAN1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000194146.2 1 5.652206 KEEP 0 1 29 29 990 CC 0.999997 0.999997 0 - 5 60 184 0 0 11.536667 128 60 4464 186 ENST00000481448.1 0.037594 1 RCAN1 1827 __UNKNOWN__ __UNKNOWN__ 21 35893737 35893737 __UNKNOWN__ Intron SNP T T C rs8131131 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:35893737T>C ENST00000481448.1 - 4 1043 RCAN1_ENST00000489903.1_Intron|RCAN1_ENST00000381135.3_Intron|RCAN1_ENST00000399272.1_Intron|RCAN1_ENST00000381132.2_Intron|RCAN1_ENST00000482533.1_Intron|RCAN1_ENST00000313806.4_Intron|RCAN1_ENST00000443408.2_Intron|RCAN1_ENST00000487990.1_Intron|RCAN1_ENST00000492600.1_Missense_Mutation_p.R161G P53805 RCAN1_HUMAN regulator of calcineurin 1 NA NA blood circulation (GO:0008015)|calcineurin-NFAT signaling cascade (GO:0033173)|central nervous system development (GO:0007417)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of smooth muscle cell differentiation (GO:0051151)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|response to ischemia (GO:0002931)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)|signal transduction (GO:0007165)|skeletal muscle fiber development (GO:0048741) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 TACTGCTCCCTGGTGCAGGGC 0.602 NA C||| 2974 0.59385 0.6475 0.5778 5008 , , NA 15881 0.875 NA 0.4046 False NA ,,, NA NA NA 2504 0.4376 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13637.1, CCDS33551.1, CCDS42921.1, CCDS74788.1, CCDS74790.1 21q22.1-q22.2 2010-08-11 2007-06-26 2007-06-26 ENSG00000159200 ENSG00000159200 1827 3040 protein-coding gene gene with protein product 602917 Down syndrome critical region gene 1 DSCR1 NA 8595418 Standard XM_005260929 NA Approved uc002yue.3 P53805 OTTHUMG00000086235 ENST00000481448.1:c.556+59A>G chr21.hg19:g.35893737T>C NA D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4 hg19 0.02 7.784646 CCCxGGT COVERED NOVEL RCAN1-005 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000194146.2 2 9.929197 KEEP 0 0 0 33 1020 TT 0.999998 0.999998 0 - 13 60 494 0 0 36.137792 144 60 5281 233 ENST00000481448.1 0.082803 1 SETD4 54093 __UNKNOWN__ __UNKNOWN__ 21 37412752 37412752 __UNKNOWN__ Intron SNP T T C rs2255858 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:37412752T>C ENST00000399215.1 - 8 2437 AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000332131.4_Intron|SETD4_ENST00000399212.1_Intron|SETD4_ENST00000481477.1_Intron Q9NVD3 SETD4_HUMAN SET domain containing 4 NA NA methyltransferase activity (GO:0008168) autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 CTCCAATGTATGACATCCCTT 0.393 NA T||| 1896 0.378594 0.3623 0.4121 5008 , , NA 20279 0.3403 NA 0.3718 False NA ,,, NA NA NA 2504 0.4233 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001660 CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1 21q22.13 2006-02-15 2006-02-15 2006-02-15 ENSG00000185917 ENSG00000185917 54093 1258 protein-coding gene gene with protein product chromosome 21 open reading frame 27, chromosome 21 open reading frame 18 C21orf27, C21orf18 NA Standard NM_017438 XM_005261000 NA Approved uc021wiy.1 Q9NVD3 OTTHUMG00000086483 ENST00000399215.1:c.1064+120A>G chr21.hg19:g.37412752T>C NA B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46 hg19 CCDS13640.1 0.02 6.604922 GTAxGAC COVERED NOVEL SETD4-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194456.1 2 5.651362 KEEP 0 1 35 31 947 TT 0.999997 0.999997 0 - 12 60 453 0 0 31.619932 177 60 6471 265 ENST00000399215.1 0.063492 1 SETD4 54093 __UNKNOWN__ __UNKNOWN__ 21 37422557 37422557 __UNKNOWN__ Intron SNP T T C rs137945837 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:37422557T>C ENST00000399215.1 - 4 1580 SETD4_ENST00000399207.1_Intron|SETD4_ENST00000399205.1_Intron|SETD4_ENST00000332131.4_Intron|SETD4_ENST00000399201.1_Intron|SETD4_ENST00000399212.1_Intron|SETD4_ENST00000399208.2_Intron|SETD4_ENST00000481477.1_Intron Q9NVD3 SETD4_HUMAN SET domain containing 4 NA NA methyltransferase activity (GO:0008168) autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TTTGATAGATTGTCCCATCAG 0.443 NA T||| 7 0.00139776 0.0 0.0 5008 , , NA 22996 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001660 CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1 21q22.13 2006-02-15 2006-02-15 2006-02-15 ENSG00000185917 ENSG00000185917 54093 1258 protein-coding gene gene with protein product chromosome 21 open reading frame 27, chromosome 21 open reading frame 18 C21orf27, C21orf18 NA Standard NM_017438 XM_005261000 NA Approved uc021wiy.1 Q9NVD3 OTTHUMG00000086483 ENST00000399215.1:c.208-1863A>G chr21.hg19:g.37422557T>C NA B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46 hg19 CCDS13640.1 0.02 15.397991 GATxGTC COVERED NOVEL SETD4-005 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194456.1 3 15.347047 KEEP 0 0 0 51 1632 TT 1 1 0 - 15 60 504 0 0 29.609507 397 60 14777 541 ENST00000399215.1 0.036408 1 DOPEY2 9980 __UNKNOWN__ __UNKNOWN__ 21 37635797 37635797 __UNKNOWN__ Intron SNP T T C rs12626686 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:37635797T>C ENST00000399151.3 + 25 5400 NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 NA NA cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031) extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TAAATGTATTTTGACTTGTTC 0.348 NA T||| 1187 0.237021 0.3404 0.0778 5008 , , NA 17569 0.3452 NA 0.1014 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 T 1269,3135 212,845,1145 26 26 26 0.8 0 21 dbSNP_120 26 727,7871 23,681,3595 no intron DOPEY2 NM_005128.2 235,1526,4740 CC,CT,TT 8.4555,28.8147,15.3515 37635797 1996,11006 2202 4299 6501 SO:0001627 intron_variant AJ237839 CCDS13643.1 21q22.2 2013-03-05 2006-02-02 2006-02-02 ENSG00000142197 ENSG00000142197 9980 1291 protein-coding gene gene with protein product 604803 chromosome 21 open reading frame 5 C21orf5 NA 16301316, 16303751, 10931277 Standard NM_005128 NM_005128 NA Approved KIAA0933 uc002yvg.3 Q9Y3R5 OTTHUMG00000086619 ENST00000399151.3:c.5316-47T>C chr21.hg19:g.37635797T>C NA D3DSG5|Q6PJQ7|Q9UEZ3 hg19 CCDS13643.1 0.02 4.502856 ATTxTGA COVERED NOVEL DOPEY2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194636.1 2 4.510227 KEEP 0 0 0 15 422 TT 0.99649 0.99649 0 + 6 60 224 0 0 14.438569 138 60 4874 162 ENST00000399151.3 0.041667 1 MORC3 23515 __UNKNOWN__ __UNKNOWN__ 21 37747525 37747525 __UNKNOWN__ Silent SNP C C T rs116846998 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:37747525C>T ENST00000400485.1 + 17 2827 c.2751C>T c.(2749-2751)taC>taT p.Y917Y MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 917 NA cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821) PML body (GO:0016605) zinc ion binding (GO:0008270) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 AAGTGAATTACGATGTTGATG 0.348 NA C||| 11 0.00219649 0.0 0.0 5008 , , NA 18388 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 161 151 154 NA NA 21 NA 37747525 1928 4137 6065 SO:0001819 synonymous_variant AK025327 CCDS42924.1 21q22.13 2005-06-15 2005-06-15 2005-06-15 ENSG00000159256 ENSG00000159256 23515 23572 protein-coding gene gene with protein product 610078 zinc finger, CW-type with coiled-coil domain 3, zinc finger, CW type with coiled-coil domain 3 ZCWCC3 NA 14607086 Standard NM_015358 NM_015358 NA Approved ZCW5, NXP2, KIAA0136 uc002yvi.3 Q14149 OTTHUMG00000086620 ENST00000400485.1:c.2751C>T chr21.hg19:g.37747525C>T NA A8KA92|Q9UEZ2 hg19 CCDS42924.1 0.02 10.380742 TTAxGAT COVERED NOVEL MORC3-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000194640.1 2 13.24189 KEEP 0 0 0 44 1493 CC 1 1 0 + 8 60 294 0 0 17.589885 261 60 8955 382 ENST00000400485.1 0.02974 1 CHAF1B 8208 __UNKNOWN__ __UNKNOWN__ 21 37781046 37781046 __UNKNOWN__ Intron SNP C C T rs75530000 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:37781046C>T ENST00000314103.5 + 9 908 NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) NA NA cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234) chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 TCCCTCCCTTCCCTGTTCCCC 0.438 NA C||| 602 0.120208 0.0008 0.0303 5008 , , NA 19410 0.3105 NA 0.0447 False NA ,,, NA NA NA 2504 0.227 NA NA NA NA 0 C 51,4355 50.9+/-86.3 0,51,2152 105 95 98 0.8 0 21 dbSNP_131 98 395,8205 126.5+/-185.0 11,373,3916 no intron CHAF1B NM_005441.2 11,424,6068 TT,TC,CC 4.593,1.1575,3.4292 37781046 446,12560 2203 4300 6503 SO:0001627 intron_variant U20980 CCDS13644.1 21q22.2 2013-01-10 ENSG00000159259 ENSG00000159259 8208 WD repeat domain containing 1911 protein-coding gene gene with protein product M-phase phosphoprotein 7, Chromatin assembly factor I, p60 subunit, human chromatin assembly factor-I p60 subunit 601245 NA 7600578, 8792829 Standard NM_005441 NM_005441 NA Approved CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7 uc002yvj.3 Q13112 OTTHUMG00000086606 ENST00000314103.5:c.758-13C>T chr21.hg19:g.37781046C>T NA Q99548 hg19 CCDS13644.1 0.02 8.810066 CTTxCCT COVERED NOVEL CHAF1B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194616.2 1 7.82549 KEEP 0 0 0 26 917 CC 0.999957 0.999957 0 + 9 60 334 0 0 20.967809 235 60 8861 338 ENST00000314103.5 0.036885 1 CLDN14 23562 __UNKNOWN__ __UNKNOWN__ 21 37858267 37858267 __UNKNOWN__ Intron SNP C C G rs7277324 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:37858267C>G ENST00000342108.2 - 3 297 AP000695.1_ENST00000595927.1_Silent_p.P25P|CLDN14_ENST00000399136.1_Intron|AP000695.4_ENST00000428667.1_RNA NM_001146077.1 NP_001139549.1 O95500 CLD14_HUMAN claudin 14 NA NA calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) endometrium(1)|lung(5)|skin(1) 7 CTCAGCTACCCTTTCCCTCCA 0.512 NA C||| 1532 0.305911 0.534 0.2695 5008 , , NA 22549 0.1181 NA 0.2187 False NA ,,, NA NA NA 2504 0.3067 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ132445 CCDS13645.1 21q22.3 2008-07-31 ENSG00000159261 ENSG00000159261 23562 Claudins 2035 protein-coding gene gene with protein product 605608 DFNB29 NA 11163249 Standard NM_144492 NM_144492 NA Approved uc002yvk.2 O95500 OTTHUMG00000086638 ENST00000342108.2:c.81-24193G>C chr21.hg19:g.37858267C>G NA hg19 CCDS13645.1 0.02 6.310925 ACCxTTT COVERED NOVEL CLDN14-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194700.1 2 6.019393 KEEP 1 0 0 20 708 CC 0.99986 0.99986 0 - 6 60 213 0 0 12.790821 171 60 6413 238 ENST00000342108.2 0.033898 1 HLCS 3141 __UNKNOWN__ __UNKNOWN__ 21 38139632 38139632 __UNKNOWN__ Intron SNP C C A rs2073421 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38139632C>A ENST00000399120.1 - 8 2682 HLCS_ENST00000336648.4_Intron NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) NA NA biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) ATGGACACGCCCGCGGCACCA 0.592 NA A||| 3143 0.627596 0.739 0.6686 5008 , , NA 19088 0.7014 NA 0.5298 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 A ,, 2979,1427 466.4+/-354.5 999,981,223 57 47 50 ,, -4.1 0 21 dbSNP_96 50 4505,4095 560.3+/-387.6 1183,2139,978 no intron,intron,intron HLCS NM_000411.6,NM_001242784.1,NM_001242785.1 ,, 2182,3120,1201 AA,AC,CC 47.6163,32.3877,42.4573 ,, ,, 38139632 7484,5522 2203 4300 6503 SO:0001627 intron_variant CCDS13647.1 21q22.1 2012-07-13 2010-04-30 ENSG00000159267 ENSG00000159267 3141 6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15 4976 protein-coding gene gene with protein product 609018 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) NA 7842009 Standard NM_000411 NA Approved HCS uc021wjb.1 P50747 OTTHUMG00000086636 ENST00000399120.1:c.1452-46G>T chr21.hg19:g.38139632C>A NA B2RAH1|D3DSG6|Q99451 hg19 CCDS13647.1 0.02 2.09792 CGCxCGC COVERED NOVEL HLCS-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194687.2 0 2.407708 KEEP 0 0 0 8 283 CC 0.99257 0.992407 0 - 7 60 237 0 0 16.365294 83 60 2990 107 ENST00000399120.1 0.077778 0.999835 HLCS 3141 __UNKNOWN__ __UNKNOWN__ 21 38351365 38351365 __UNKNOWN__ Intron SNP T T C rs2154532|rs386818339|rs368795969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38351365T>C ENST00000336648.4 - 1 79 NM_000411.6|NM_001242785.1 NP_000402.3|NP_001229714.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) NA NA biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) gtcaggagattgagaccatcc 0.507 NA C||| 2014 0.402157 0.357 0.428 5008 , , NA 14254 0.4851 NA 0.3777 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13647.1 21q22.1 2012-07-13 2010-04-30 ENSG00000159267 ENSG00000159267 3141 6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15 4976 protein-coding gene gene with protein product 609018 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) NA 7842009 Standard NM_000411 NA Approved HCS uc021wjb.1 P50747 OTTHUMG00000086636 ENST00000336648.4:c.391+11092A>G chr21.hg19:g.38351365T>C NA B2RAH1|D3DSG6|Q99451 hg19 CCDS13647.1 0.02 -0.043867 GATxGAG UNCOVERED NOVEL HLCS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194686.2 0 2.407398 KEEP 1 0 0 8 252 TT 0 0 0 - 3 41 114 0 0 11.369773 2 60 77 18 ENST00000336648.4 0.6 0.024074 HLCS 3141 __UNKNOWN__ __UNKNOWN__ 21 38351366 38351366 __UNKNOWN__ Intron SNP G G A rs2154533|rs386818339|rs368795969 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38351366G>A ENST00000336648.4 - 1 79 NM_000411.6|NM_001242785.1 NP_000402.3|NP_001229714.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) NA NA biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363) ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) tcaggagattgagaccatcct 0.512 NA G||| 2014 0.402157 0.357 0.428 5008 , , NA 14261 0.4851 NA 0.3777 False NA ,,, NA NA NA 2504 0.3845 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13647.1 21q22.1 2012-07-13 2010-04-30 ENSG00000159267 ENSG00000159267 3141 6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15 4976 protein-coding gene gene with protein product 609018 holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase), holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) NA 7842009 Standard NM_000411 NA Approved HCS uc021wjb.1 P50747 OTTHUMG00000086636 ENST00000336648.4:c.391+11091C>T chr21.hg19:g.38351366G>A NA B2RAH1|D3DSG6|Q99451 hg19 CCDS13647.1 0.02 -0.043867 ATTxAGA UNCOVERED NOVEL HLCS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194686.2 1 2.708667 KEEP 1 0 0 9 307 GG 0.99257 0.023895 0 - 2 41 74 0 0 6.892778 3 60 113 19 ENST00000336648.4 0.4 0.024074 RIPPLY3 53820 __UNKNOWN__ __UNKNOWN__ 21 38380368 38380368 __UNKNOWN__ Intron SNP A A G rs2277786 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38380368A>G ENST00000329553.2 + 2 314 RIPPLY3_ENST00000485272.1_Intron NM_018962.2 NP_061835.1 P57055 DSCR6_HUMAN ripply transcriptional repressor 3 NA NA heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) NA TTTCAGGCAGACACTGGAACT 0.537 NA G||| 2033 0.40595 0.4486 0.2795 5008 , , NA 16850 0.4871 NA 0.3072 False NA ,,, NA NA NA 2504 0.456 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037158 CCDS13648.1 21q22.2 2013-07-23 2013-07-23 2013-06-04 ENSG00000183145 ENSG00000183145 53820 3047 protein-coding gene gene with protein product 609892 Down syndrome critical region gene 6, ripply3 homolog (zebrafish) DSCR6 NA 10814524, 22354841 Standard NM_018962 NA Approved P57055 OTTHUMG00000086639 ENST00000329553.2:c.105-89A>G chr21.hg19:g.38380368A>G NA hg19 CCDS13648.1 0.02 2.341662 CAGxCAC COVERED NOVEL RIPPLY3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194703.1 0 10.531804 KEEP 0 0 0 35 1098 AA 0.999999 0.999621 0 + 4 60 156 0 0 10.505411 81 60 2842 148 ENST00000329553.2 0.047059 0.999622 PIGP 51227 __UNKNOWN__ __UNKNOWN__ 21 38439504 38439504 __UNKNOWN__ Intron SNP A A G rs2835570 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38439504A>G ENST00000360525.4 - 4 455 PIGP_ENST00000464265.1_Intron|PIGP_ENST00000329667.3_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|PIGP_ENST00000399102.1_Intron NM_153682.2 NP_710149.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021) phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) TTTCTGGGTAAAAGTGCTAAT 0.458 NA A||| 604 0.120607 0.2269 0.1671 5008 , , NA 16041 0.0466 NA 0.1203 False NA ,,, NA NA NA 2504 0.0204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB037162 CCDS13649.1, CCDS13650.1 21q22.2 2013-02-26 2006-06-28 2005-11-10 ENSG00000185808 ENSG00000185808 51227 2.4.1.198 Phosphatidylinositol glycan anchor biosynthesis 3046 protein-coding gene gene with protein product phosphatidylinositol-n-acetylglucosaminyltranferase subunit 605938 Down syndrome critical region gene 5, phosphatidylinositol glycan, class P DSCR5 NA 10814524, 15221505 Standard NM_153681 NR_028352 NA Approved DCRC, DSRC uc002yvw.1 P57054 OTTHUMG00000086653 ENST00000360525.4:c.274+57T>C chr21.hg19:g.38439504A>G NA B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6 hg19 CCDS13650.1 0.02 4.447703 GTAxAAG COVERED NOVEL PIGP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194766.2 2 9.930116 KEEP 0 0 0 33 1058 AA 0.999998 0.999998 0 - 7 60 266 0 0 17.875053 133 60 4685 193 ENST00000360525.4 0.05 1 PIGP 51227 __UNKNOWN__ __UNKNOWN__ 21 38439686 38439686 __UNKNOWN__ Intron SNP A A G rs11702061 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38439686A>G ENST00000360525.4 - 4 336 PIGP_ENST00000464265.1_Intron|PIGP_ENST00000329667.3_Intron|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|PIGP_ENST00000399102.1_Intron NM_153682.2 NP_710149.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021) phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) AATATCTGCCAAAGAGAATAT 0.338 NA A||| 601 0.120008 0.2262 0.1671 5008 , , NA 18314 0.0456 NA 0.1203 False NA ,,, NA NA NA 2504 0.0194 NA NA NA NA 0 A , 865,3541 333.9+/-303.2 81,703,1419 157 156 156 , -0.9 0 21 dbSNP_120 156 1133,7467 231.4+/-265.4 80,973,3247 no intron,intron PIGP NM_153681.2,NM_153682.2 , 161,1676,4666 GG,GA,AA 13.1744,19.6323,15.3621 , , 38439686 1998,11008 2203 4300 6503 SO:0001627 intron_variant AB037162 CCDS13649.1, CCDS13650.1 21q22.2 2013-02-26 2006-06-28 2005-11-10 ENSG00000185808 ENSG00000185808 51227 2.4.1.198 Phosphatidylinositol glycan anchor biosynthesis 3046 protein-coding gene gene with protein product phosphatidylinositol-n-acetylglucosaminyltranferase subunit 605938 Down syndrome critical region gene 5, phosphatidylinositol glycan, class P DSCR5 NA 10814524, 15221505 Standard NM_153681 NR_028352 NA Approved DCRC, DSRC uc002yvw.1 P57054 OTTHUMG00000086653 ENST00000360525.4:c.156-6T>C chr21.hg19:g.38439686A>G NA B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6 hg19 CCDS13650.1 0.02 10.359526 GCCxAAG COVERED NOVEL PIGP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194766.2 1 16.245448 KEEP 0 0 0 54 1614 AA 1 1 0 - 9 60 356 0 0 23.878107 195 60 7068 297 ENST00000360525.4 0.044118 1 PIGP 51227 __UNKNOWN__ __UNKNOWN__ 21 38444881 38444881 __UNKNOWN__ Intron SNP G G A rs73200245 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38444881G>A ENST00000360525.4 - 2 159 PIGP_ENST00000464265.1_Missense_Mutation_p.P3S|PIGP_ENST00000399103.1_Intron|PIGP_ENST00000399098.1_Intron|PIGP_ENST00000399102.1_Intron NM_153682.2 NP_710149.1 P57054 PIGP_HUMAN phosphatidylinositol glycan anchor biosynthesis, class P NA NA C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254) endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021) phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176) kidney(1)|urinary_tract(1) 2 Myeloproliferative disorder(46;0.0412) GTGCTCCGTGGCACCATTGAT 0.632 NA G||| 1046 0.208866 0.3775 0.3573 5008 , , NA 14000 0.0823 NA 0.1521 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G SER/PRO, 1489,2917 475.5+/-357.3 242,1005,956 127 127 127 7, -4.1 0 21 dbSNP_130 127 1380,7220 266.9+/-287.0 115,1150,3035 yes missense,intron PIGP NM_153681.2,NM_153682.2 74, 357,2155,3991 AA,AG,GG 16.0465,33.7948,22.059 benign, 3/159, 38444881 2869,10137 2203 4300 6503 SO:0001627 intron_variant AB037162 CCDS13649.1, CCDS13650.1 21q22.2 2013-02-26 2006-06-28 2005-11-10 ENSG00000185808 ENSG00000185808 51227 2.4.1.198 Phosphatidylinositol glycan anchor biosynthesis 3046 protein-coding gene gene with protein product phosphatidylinositol-n-acetylglucosaminyltranferase subunit 605938 Down syndrome critical region gene 5, phosphatidylinositol glycan, class P DSCR5 NA 10814524, 15221505 Standard NM_153681 NR_028352 NA Approved DCRC, DSRC uc002yvw.1 P57054 OTTHUMG00000086653 ENST00000360525.4:c.22-44C>T chr21.hg19:g.38444881G>A NA B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6 hg19 CCDS13650.1 0.02 16.509725 GTGxCAC COVERED 484 0.2216117216117216 184 0.37398373983739835 124 0.3425414364640884 56 0.0979020979020979 120 0.158311345646438 G 11.31 1.601930 0.28534 0.337948 0.160465 ENSG00000185808 ENST00000464265 T 0.23348 1.91 4.39 -4.09 0.03951 . 6.970870 0.00357 N 0.000039 T 0.00012 0.0000 N 0.03608 -0.345 0.58432 P 9.99999999995449E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.43147 -0.9409 9 0.30854 T 0.27 12.7861 2.1501 0.03797 0.1513:0.4097:0.1697:0.2693 . 3 P57054 PIGP_HUMAN S 3 ENSP00000420037:P3S ENSP00000420037:P3S P - 1 0 PIGP 37366751 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.903000 0.04084 -0.353000 0.08224 -0.457000 0.05445 CCA NOVEL PIGP-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194766.2 4 104.073434 KEEP 0 1 22 354 12525 GG 1 1 0 - 13 60 459 0 0 26.828548 417 60 15071 1028 ENST00000360525.4 0.030233 1 TTC3 7267 __UNKNOWN__ __UNKNOWN__ 21 38457069 38457069 __UNKNOWN__ Intron SNP C C T rs9974486 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38457069C>T ENST00000399017.2 + 1 2736 TTC3_ENST00000399010.1_Intron|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Intron NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 NA NA negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ccgaggcgggcggatcacaag 0.512 NA C||| 1845 0.368411 0.2897 0.3473 5008 , , NA 16610 0.3611 NA 0.4841 False NA ,,, NA NA NA 2504 0.3783 NA NA NA Ovarian(38;194 1649 35661) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267 RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing 12393 protein-coding gene gene with protein product 602259 NA 8947847 Standard NM_003316 NA Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.-12+438C>T chr21.hg19:g.38457069C>T NA A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 hg19 CCDS13651.1 0.02 -0.043865 GGGxGGA UNCOVERED NOVEL TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194776.1 7 4.814911 KEEP 2 0 0 16 515 CC 0.995343 0.023962 0 + 4 60 141 0 0 14.921589 1 60 34 30 ENST00000399017.2 0.8 0.024074 TTC3 7267 __UNKNOWN__ __UNKNOWN__ 21 38459725 38459725 __UNKNOWN__ Intron SNP A A G rs2835583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38459725A>G ENST00000399017.2 + 2 2891 TTC3_ENST00000399010.1_Intron|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Intron|TTC3_ENST00000354749.2_Intron|TTC3_ENST00000479930.1_Intron NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 NA NA negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CTAATTTTTCATTTTTGACAT 0.393 NA a||| 1064 0.21246 0.4304 0.3357 5008 , , NA 21333 0.0804 NA 0.1223 False NA ,,, NA NA NA 2504 0.0593 NA NA NA Ovarian(38;194 1649 35661) NA 0 A , 1704,2702 513.9+/-368.5 329,1046,828 240 219 226 , -6.3 0 21 dbSNP_100 226 1149,7451 235.3+/-267.9 83,983,3234 no intron,intron TTC3 NM_001001894.1,NM_003316.3 , 412,2029,4062 GG,GA,AA 13.3605,38.6745,21.936 , , 38459725 2853,10153 2203 4300 6503 SO:0001627 intron_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267 RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing 12393 protein-coding gene gene with protein product 602259 NA 8947847 Standard NM_003316 NA Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.144+24A>G chr21.hg19:g.38459725A>G NA A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 hg19 CCDS13651.1 0.02 12.861172 TTCxTTT COVERED NOVEL TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194776.1 0 24.659157 KEEP 0 0 0 82 2556 AA 1 1 0 + 9 60 331 0 0 19.795681 295 60 11012 469 ENST00000399017.2 0.029605 1 TTC3 7267 __UNKNOWN__ __UNKNOWN__ 21 38470120 38470120 __UNKNOWN__ Intron SNP G G A rs1108966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38470120G>A ENST00000399017.2 + 10 3592 TTC3_ENST00000399010.1_Intron|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Intron|TTC3_ENST00000354749.2_Intron|TTC3_ENST00000479930.1_Intron NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 NA NA negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) cagtgaaagcgcttgtatggg 0.363 NA G||| 423 0.0844649 0.0976 0.1599 5008 , , NA 15132 0.0437 NA 0.1193 False NA ,,, NA NA NA 2504 0.0194 NA NA NA Ovarian(38;194 1649 35661) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267 RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing 12393 protein-coding gene gene with protein product 602259 NA 8947847 Standard NM_003316 NA Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.845+1177G>A chr21.hg19:g.38470120G>A NA A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 hg19 CCDS13651.1 0.02 -0.350895 AGCxCTT COVERED NOVEL TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194776.1 0 2.708084 KEEP 0 0 0 9 283 GG 0.99254 0.87116 0 + 3 60 108 0 0 7.605503 37 60 1243 57 ENST00000399017.2 0.075 0.877708 TTC3 7267 __UNKNOWN__ __UNKNOWN__ 21 38574213 38574213 __UNKNOWN__ 3'UTR SNP G G A rs2835666|rs373691346|rs550389420 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38574213G>A ENST00000399017.2 + 0 9163 TTC3_ENST00000355666.1_3'UTR|TTC3_ENST00000354749.2_3'UTR|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 NA NA negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) ATAGCCAAGCGCCCCACGTTT 0.433 NA NA NA NA NA NA NA NA NA NA Ovarian(38;194 1649 35661) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267 RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing 12393 protein-coding gene gene with protein product 602259 NA 8947847 Standard NM_003316 NA Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.*338G>A chr21.hg19:g.38574213G>A NA A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 hg19 CCDS13651.1 0.02 6.507424 AGCxCCC COVERED NOVEL TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194776.1 0 7.960175 KEEP 0 1 33 38 1306 GG 1 1 0 + 9 60 313 0 0 19.899962 180 60 6226 291 ENST00000399017.2 0.047619 1 TTC3 7267 __UNKNOWN__ __UNKNOWN__ 21 38574294 38574294 __UNKNOWN__ 3'UTR SNP G G A rs547393512 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38574294G>A ENST00000399017.2 + 0 9244 TTC3_ENST00000355666.1_3'UTR|TTC3_ENST00000354749.2_3'UTR|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 NA NA negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511) mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AGATGATACTGACTTTTTAAA 0.368 NA G||| 4 0.000798722 0.0 0.0 5008 , , NA 15330 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Ovarian(38;194 1649 35661) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D84296 CCDS13651.1 21q22.2 2013-01-11 ENSG00000182670 ENSG00000182670 7267 RING-type (C3HC4) zinc fingers, Tetratricopeptide (TTC) repeat domain containing 12393 protein-coding gene gene with protein product 602259 NA 8947847 Standard NM_003316 NA Approved TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105 uc002yvz.3 P53804 OTTHUMG00000086654 ENST00000399017.2:c.*419G>A chr21.hg19:g.38574294G>A NA A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4 hg19 CCDS13651.1 0.02 4.511987 ACTxACT COVERED NOVEL TTC3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000194776.1 2 11.136039 KEEP 0 0 0 37 1298 GG 1 1 0 + 7 60 252 0 0 16.390989 137 60 5189 225 ENST00000399017.2 0.048611 1 DYRK1A 1859 __UNKNOWN__ __UNKNOWN__ 21 38791581 38791581 __UNKNOWN__ 5'UTR SNP A A C rs2835726 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:38791581A>C ENST00000339659.4 + 0 375 DYRK1A_ENST00000462274.1_Intron|DYRK1A_ENST00000321219.8_5'UTR|DYRK1A_ENST00000338785.3_Intron|DYRK1A_ENST00000451934.1_5'UTR NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A NA NA circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468) nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACTTAGGGAAAAGGATTATTA 0.363 NA A||| 2504 0.5 0.6679 0.4121 5008 , , NA 18634 0.377 NA 0.4423 False NA ,,, NA NA NA 2504 0.5215 NA NA NA Melanoma(114;464 1602 31203 43785 45765) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U52373 CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1 21q22.13 2010-04-21 ENSG00000157540 ENSG00000157540 1859 3091 protein-coding gene gene with protein product 600855 DYRK1, DYRK, MNBH NA 9284911 Standard NM_001396 NM_130436 NA Approved uc002ywk.3 Q13627 OTTHUMG00000086657 ENST00000339659.4:c.-1096A>C chr21.hg19:g.38791581A>C NA O60769|Q92582|Q92810|Q9UNM5 hg19 CCDS13653.1 0.02 17.274782 GAAxAGG COVERED NOVEL DYRK1A-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000194801.2 1 12.895819 KEEP 0 2 72 68 2139 AA 1 1 0 + 18 60 700 0 0 47.360328 351 60 12662 529 ENST00000339659.4 0.04878 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 40543811 40543811 __UNKNOWN__ IGR SNP T T C rs2836929 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40543811T>C NA NA AF064858.10 (142758 upstream) : PSMG1 (2883 downstream) NA NA NA GCTACTGATATCCTCTTCCAA 0.512 NA T||| 1070 0.213658 0.2874 0.2205 5008 , , NA 20174 0.0446 NA 0.3161 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.40543811T>C NA hg19 0.02 2.212487 ATAxCCT COVERED NOVEL 0 0 3.009221 KEEP 0 0 0 10 316 TT 0.992708 0.991583 0 5 60 185 0 0 12.852557 72 60 2576 103 0.064935 0.998867 PSMG1 8624 __UNKNOWN__ __UNKNOWN__ 21 40547004 40547004 __UNKNOWN__ 3'UTR SNP A A G rs428602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40547004A>G ENST00000331573.3 - 0 1844 NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 NA NA cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) AGGTCAATGAATAGTTACACC 0.353 NA OREG0026220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) A||| 1837 0.366813 0.3162 0.2867 5008 , , NA 15413 0.4524 NA 0.3976 False NA ,,, NA NA NA 2504 0.3722 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ006291 CCDS13660.1, CCDS13661.1 21q22.3 2007-10-23 2007-10-23 2007-10-23 ENSG00000183527 ENSG00000183527 8624 3043 protein-coding gene gene with protein product 605296 Down syndrome critical region gene 2 DSCR2 NA 10872820, 17189198 Standard NM_003720 NM_003720 NA Approved c21-LRP, LRPC21, PAC1 uc002yxi.4 O95456 OTTHUMG00000066034 ENST00000331573.3:c.*512T>C chr21.hg19:g.40547004A>G 894 B5BUN2|Q6FHA3|Q6FHD3|Q6S713 hg19 CCDS13660.1 0.02 8.978996 TGAxTAG COVERED NOVEL PSMG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141404.2 1 22.866463 KEEP 0 0 0 76 2368 AA 1 1 0 - 8 60 300 0 0 19.200183 194 60 7187 349 ENST00000331573.3 0.039604 1 PSMG1 8624 __UNKNOWN__ __UNKNOWN__ 21 40555351 40555351 __UNKNOWN__ 5'UTR SNP G G C rs13052882 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40555351G>C ENST00000331573.3 - 0 426 PSMG1_ENST00000380900.2_5'UTR NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 NA NA cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634) autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) GCAGCGCCGCGGGACCGCACG 0.726 NA G||| 1173 0.234225 0.3661 0.2262 5008 , , NA 12764 0.0367 NA 0.3191 False NA ,,, NA NA NA 2504 0.1779 NA NA NA NA 0 G , 1432,2834 277,878,978 7 7 7 , -8.3 0 21 dbSNP_121 7 2740,5652 545,1650,2001 no utr-5,utr-5 PSMG1 NM_003720.2,NM_203433.1 , 822,2528,2979 CC,CG,GG 32.6501,33.5677,32.9594 , , 40555351 4172,8486 2133 4196 6329 SO:0001623 5_prime_UTR_variant AJ006291 CCDS13660.1, CCDS13661.1 21q22.3 2007-10-23 2007-10-23 2007-10-23 ENSG00000183527 ENSG00000183527 8624 3043 protein-coding gene gene with protein product 605296 Down syndrome critical region gene 2 DSCR2 NA 10872820, 17189198 Standard NM_003720 NM_003720 NA Approved c21-LRP, LRPC21, PAC1 uc002yxi.4 O95456 OTTHUMG00000066034 ENST00000331573.3:c.-40C>G chr21.hg19:g.40555351G>C NA B5BUN2|Q6FHA3|Q6FHD3|Q6S713 hg19 CCDS13660.1 0.02 7.040438 CGCxGGA COVERED NOVEL PSMG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141404.2 3 50.84052 KEEP 0 0 0 169 5874 GG 1 1 0 - 8 60 256 0 0 14.360761 222 60 7852 514 ENST00000331573.3 0.034783 1 BRWD1 54014 __UNKNOWN__ __UNKNOWN__ 21 40557332 40557332 __UNKNOWN__ 3'UTR SNP T T C rs6517523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40557332T>C ENST00000333229.2 - 0 8910 NM_018963.4 NP_061836.2 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 NA NA cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATAAATATTATAAATTAAGTG 0.254 NA T||| 1056 0.210863 0.2897 0.2147 5008 , , NA 14346 0.0367 NA 0.3131 False NA ,,, NA NA NA 2504 0.1759 NA NA NA Melanoma(170;988 1986 4794 16843 39731) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ002572 CCDS13662.1, CCDS13663.1, CCDS33557.1 21q22.2 2013-05-21 2005-05-13 2005-05-13 ENSG00000185658 ENSG00000185658 54014 WD repeat domain containing 12760 protein-coding gene gene with protein product chromosome 21 open reading frame 107, WD repeat domain 9 C21orf107, WDR9 NA Standard NM_033656 NM_033656 NA Approved FLJ11315, N143 uc002yxk.2 Q9NSI6 OTTHUMG00000066030 ENST00000333229.2:c.*1620A>G chr21.hg19:g.40557332T>C NA C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1 hg19 CCDS13662.1 0.02 4.783593 TTAxAAA COVERED NOVEL BRWD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141398.3 3 21.353653 KEEP 0 0 0 71 2192 TT 1 0.999995 0 - 10 60 375 0 0 27.598226 103 60 3783 228 ENST00000333229.2 0.088496 0.999995 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 40721611 40721611 __UNKNOWN__ IGR SNP A A C rs2735313 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40721611A>C NA NA HMGN1 (38 upstream) : WRB (30558 downstream) NA NA NA GGGCGTGGGAAGGAGAGCCGA 0.622 NA A||| 1023 0.204273 0.2489 0.1844 5008 , , NA 14987 0.1379 NA 0.2326 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.40721611A>C NA hg19 0.02 3.882679 GGAxGGA COVERED NOVEL 0 0 12.336085 KEEP 0 0 0 41 1260 AA 1 0.999973 0 6 60 204 0 0 13.383873 95 60 3556 147 0.059406 0.999973 LCA5L 150082 __UNKNOWN__ __UNKNOWN__ 21 40800371 40800371 __UNKNOWN__ Missense_Mutation SNP C C T rs2837029 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40800371C>T ENST00000358268.2 - 4 577 c.49G>A c.(49-51)Ggc>Agc p.G17S LCA5L_ENST00000288350.3_Missense_Mutation_p.G17S|LCA5L_ENST00000380671.2_Missense_Mutation_p.G17S|LCA5L_ENST00000485895.2_Missense_Mutation_p.G17S O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 17 NA G -> S (in dbSNP:rs2837029). breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AATGCCACGCCGAAGAAATGC 0.368 NA T||| 1096 0.21885 0.4259 0.1628 5008 , , NA 10829 0.0268 NA 0.2157 False NA ,,, NA NA NA 2504 0.18 NA NA NA NA 0 T SER/GLY 1741,2665 647.6+/-398.6 357,1027,819 108 105 106 49 -3.1 0 21 dbSNP_100 106 1703,6897 738.0+/-407.0 180,1343,2777 yes missense LCA5L NM_152505.3 56 537,2370,3596 TT,TC,CC 19.8023,39.5143,26.4801 benign 17/671 40800371 3444,9562 2203 4300 6503 SO:0001583 missense AF121781 CCDS13665.1 21q22.2 2007-12-18 2007-12-18 2007-12-18 ENSG00000157578 ENSG00000157578 150082 1255 protein-coding gene gene with protein product chromosome 21 open reading frame 13 C21orf13 NA Standard NM_152505 XM_005260926 NA Approved MGC33295 uc002yxu.3 O95447 OTTHUMG00000066280 ENST00000358268.2:c.49G>A chr21.hg19:g.40800371C>T ENSP00000351008:p.Gly17Ser NA D3DSI0|Q3ZCT0 hg19 CCDS13665.1 0.02 28.501811 CGCxGAA COVERED 456 0.2087912087912088 206 0.4186991869918699 71 0.19613259668508287 15 0.026223776223776224 164 0.21635883905013192 T 7.581 0.668727 0.14776 0.395143 0.198023 ENSG00000157578 ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018;ENST00000448288;ENST00000434281;ENST00000438404;ENST00000411566;ENST00000415863;ENST00000426783;ENST00000456017 T;T;T;T;T;T;T;T;T;T;T 0.77877 0.68;0.68;0.68;1.11;1.12;1.12;1.12;1.12;1.14;1.15;-1.13 5.65 -3.13 0.05266 . 1.174020 0.06017 N 0.650621 T 0.00012 0.0000 N 0.04203 -0.255 0.80722 P 0.0 B;B 0.06786 0.0;0.001 B;B 0.04013 0.001;0.001 T 0.08086 -1.0739 9 0.02654 T 1 0.2877 3.4211 0.07393 0.1051:0.4068:0.1812:0.3069 rs2837029;rs52802136;rs58867617;rs2837029 17;17 C9JFB6;O95447 .;LCA5L_HUMAN S 17 ENSP00000288350:G17S;ENSP00000370046:G17S;ENSP00000351008:G17S;ENSP00000404521:G17S;ENSP00000405598:G17S;ENSP00000400086:G17S;ENSP00000405130:G17S;ENSP00000412691:G17S;ENSP00000395593:G17S;ENSP00000414784:G17S;ENSP00000407065:G17S ENSP00000288350:G17S G - 1 0 LCA5L 39722241 0.000000 0.05858 0.000000 0.03702 0.003000 0.03518 -1.232000 0.02936 -0.792000 0.04480 -0.254000 0.11334 GGC NOVEL LCA5L-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000141807.2 5 24.813295 KEEP 0 1 33 94 3174 CC 1 1 0 - 18 60 676 0 0 40.271665 648 60 22520 998 ENST00000358268.2 0.027027 1 SH3BGR 6450 __UNKNOWN__ __UNKNOWN__ 21 40823902 40823902 __UNKNOWN__ Intron SNP C C G rs11575939 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:40823902C>G ENST00000458295.1 + 1 207 SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000333634.4_Missense_Mutation_p.D23E P55822 SH3BG_HUMAN SH3 domain binding glutamate-rich protein NA NA positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461) cytosol (GO:0005829) SH3/SH2 adaptor activity (GO:0005070) NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GCCCAGTGGACCCCTGGGCTG 0.622 NA G||| 833 0.166334 0.2519 0.1369 5008 , , NA 15488 0.0268 NA 0.2058 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 G ,GLU/ASP 1010,3396 725.4+/-409.6 115,780,1308 60 60 60 ,69 -0.2 0 21 dbSNP_120 60 1668,6932 736.2+/-407.0 171,1326,2803 yes intron,missense SH3BGR NM_001001713.1,NM_007341.2 ,45 286,2106,4111 GG,GC,CC 19.3953,22.9233,20.5905 ,benign ,23/240 40823902 2678,10328 2203 4300 6503 SO:0001627 intron_variant CCDS13666.1, CCDS33560.1 21q22.3 2014-02-19 2014-02-19 ENSG00000185437 ENSG00000185437 6450 10822 protein-coding gene gene with protein product 21-glutamic acid-rich protein 602230 SH3 domain binding glutamic acid-rich protein NA 9050928 Standard NM_007341 NM_007341 NA Approved 21-GARP uc002yya.3 P55822 OTTHUMG00000074113 ENST00000458295.1:c.-95+5895C>G chr21.hg19:g.40823902C>G NA A6ND59|D3DSI2|Q9BRB8 hg19 0.02 16.164132 GGAxCCC COVERED 349 0.15979853479853479 118 0.23983739837398374 61 0.1685082872928177 15 0.026223776223776224 155 0.20448548812664907 G 0.007 -1.965622 0.00461 0.229233 0.193953 ENSG00000185437 ENST00000333634 T 0.28069 1.63 5.14 -0.25 0.13007 . 1.574460 0.04150 N 0.321084 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.17349 -1.0372 9 0.02654 T 1 . 2.843 0.05535 0.165:0.4108:0.284:0.1402 rs11575939;rs17856186 23 P55822 SH3BG_HUMAN E 23 ENSP00000332513:D23E ENSP00000332513:D23E D + 3 2 SH3BGR 39745772 0.001000 0.12720 0.000000 0.03702 0.005000 0.04900 0.805000 0.27112 -0.244000 0.09639 -0.824000 0.03097 GAC NOVEL SH3BGR-004 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000157380.2 0 21.971882 KEEP 0 0 0 73 2613 CC 1 1 0 + 14 60 527 0 0 33.704166 345 60 12605 513 ENST00000458295.1 0.038997 1 IGSF5 150084 __UNKNOWN__ __UNKNOWN__ 21 41165566 41165566 __UNKNOWN__ Intron SNP T T C rs460504 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:41165566T>C ENST00000380588.4 + 8 1231 NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 NA NA single organismal cell-cell adhesion (GO:0016337) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TTCCCCCTTTTTGGACTTTTT 0.443 NA T||| 1549 0.309305 0.2239 0.3084 5008 , , NA 19027 0.2143 NA 0.4692 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 T 1232,3174 413.7+/-336.6 161,910,1132 90 97 95 -1.9 0 21 dbSNP_80 95 4329,4271 570.5+/-389.4 1135,2059,1106 no intron IGSF5 NM_001080444.1 1296,2969,2238 CC,CT,TT 49.6628,27.9619,42.7572 41165566 5561,7445 2203 4300 6503 SO:0001627 intron_variant CCDS33562.1 21q22.2 2013-01-29 ENSG00000183067 ENSG00000183067 150084 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5952 protein-coding gene gene with protein product junctional adhesion molecule 4 610638 NA Standard NM_001080444 NA Approved JAM4 uc002yyo.3 Q9NSI5 OTTHUMG00000086724 ENST00000380588.4:c.1128+26T>C chr21.hg19:g.41165566T>C NA hg19 CCDS33562.1 0.02 16.087095 TTTxTGG COVERED NOVEL IGSF5-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195005.1 5 13.240753 KEEP 0 0 0 44 1410 TT 1 1 0 + 11 60 415 0 0 25.289687 357 60 12723 479 ENST00000380588.4 0.029891 1 IGSF5 150084 __UNKNOWN__ __UNKNOWN__ 21 41173549 41173549 __UNKNOWN__ 3'UTR SNP T T G rs62235387 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:41173549T>G ENST00000380588.4 + 0 1592 NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 NA NA single organismal cell-cell adhesion (GO:0016337) cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TTCATCATAATTTTTCTCAAC 0.313 NA T||| 677 0.135184 0.149 0.0865 5008 , , NA 19214 0.1766 NA 0.0795 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33562.1 21q22.2 2013-01-29 ENSG00000183067 ENSG00000183067 150084 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 5952 protein-coding gene gene with protein product junctional adhesion molecule 4 610638 NA Standard NM_001080444 NA Approved JAM4 uc002yyo.3 Q9NSI5 OTTHUMG00000086724 ENST00000380588.4:c.*265T>G chr21.hg19:g.41173549T>G NA hg19 CCDS33562.1 0.02 4.368012 TAAxTTT COVERED NOVEL IGSF5-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195005.1 2 5.41671 KEEP 0 0 0 18 581 TT 0.999859 0.999859 0 + 5 60 188 0 0 11.684141 144 60 5194 191 ENST00000380588.4 0.033557 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 21 41360582 41360582 __UNKNOWN__ IGR SNP T T A rs2091885 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:41360582T>A NA NA PCP4 (59260 upstream) : DSCAM (22343 downstream) NA NA NA TGTGCCTGACTCTGCTCTATA 0.358 NA A||| 2180 0.435304 0.2738 0.6254 5008 , , NA 23170 0.4891 NA 0.4085 False NA ,,, NA NA NA 2504 0.4908 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr21.hg19:g.41360582T>A NA hg19 0.02 4.070521 GACxCTG COVERED NOVEL 0 0 2.407063 KEEP 0 0 0 8 244 TT 0.99257 0.99257 0 9 60 332 0 0 23.416458 117 60 4390 153 0.071429 1 MX1 4599 __UNKNOWN__ __UNKNOWN__ 21 42822983 42822983 __UNKNOWN__ Intron SNP G G A rs1050080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:42822983G>A ENST00000398600.2 + 17 2457 MX1_ENST00000398598.3_Intron|MX1_ENST00000288383.6_Intron|MX1_ENST00000455164.2_Intron NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN MX dynamin-like GTPase 1 NA NA apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) AGAAGGGAGCGGGGAGAGGGG 0.358 NA G||| 2589 0.516973 0.7375 0.4452 5008 , , NA 12056 0.4921 NA 0.4284 False NA ,,, NA NA NA 2504 0.3865 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13673.1, CCDS74796.1 21q22.3 2014-07-15 2014-07-15 ENSG00000157601 ENSG00000157601 4599 7532 protein-coding gene gene with protein product interferon-inducible protein p78 147150 myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78), myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) NA 17570575 Standard XM_005260979 NA Approved IFI-78K, MxA uc010goq.3 P20591 OTTHUMG00000086755 ENST00000398600.2:c.1433-111G>A chr21.hg19:g.42822983G>A NA B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3 hg19 CCDS13673.1 0.02 -0.429502 AGCxGGG COVERED NOVEL MX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195161.2 0 3.009435 KEEP 0 0 0 10 333 GG 0.992708 0.947531 0 + 4 60 150 0 0 10.894395 45 60 1490 69 ENST00000398600.2 0.081633 0.954491 TMPRSS2 7113 __UNKNOWN__ __UNKNOWN__ 21 42850977 42850977 __UNKNOWN__ Intron SNP A A G rs9974933 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:42850977A>G ENST00000332149.5 - 7 818 TMPRSS2_ENST00000398585.3_Intron|TMPRSS2_ENST00000458356.1_Intron NM_005656.3 NP_005647.3 O15393 TMPS2_HUMAN transmembrane protease, serine 2 NA NA positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TCTCCTCCCAATGCAAAACCC 0.448 NA T ERG, ETV1, ETV4, ETV5 prostate A||| 1310 0.261581 0.2655 0.2752 5008 , , NA 17985 0.2569 NA 0.2545 False NA ,,, NA NA NA 2504 0.2587 NA NA NA Dom yes 21 21q22.3 7113 transmembrane protease, serine 2 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75329 CCDS33564.1, CCDS54486.1 21q22.3 2010-04-13 ENSG00000184012 ENSG00000184012 7113 Serine peptidases / Transmembrane 11876 protein-coding gene gene with protein product 602060 NA 9325052 Standard NM_005656 NA Approved PRSS10 uc010gor.3 O15393 OTTHUMG00000086762 ENST00000332149.5:c.683+121T>C chr21.hg19:g.42850977A>G NA A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1 hg19 CCDS33564.1 0.02 4.66971 CCAxTGC COVERED NOVEL TMPRSS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195189.1 2 6.895243 KEEP 0 0 0 23 722 AA 0.999892 0.999892 0 - 5 60 194 0 0 12.653765 121 60 4237 162 ENST00000332149.5 0.039683 1 TMPRSS2 7113 __UNKNOWN__ __UNKNOWN__ 21 42851006 42851006 __UNKNOWN__ Intron SNP A A G rs9975014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:42851006A>G ENST00000332149.5 - 7 818 TMPRSS2_ENST00000398585.3_Intron|TMPRSS2_ENST00000458356.1_Intron NM_005656.3 NP_005647.3 O15393 TMPS2_HUMAN transmembrane protease, serine 2 NA NA positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CGAGTATTGCAGCTCAGAGAA 0.448 NA T ERG, ETV1, ETV4, ETV5 prostate A||| 1314 0.26238 0.2655 0.2752 5008 , , NA 18157 0.2569 NA 0.2545 False NA ,,, NA NA NA 2504 0.2628 NA NA NA Dom yes 21 21q22.3 7113 transmembrane protease, serine 2 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75329 CCDS33564.1, CCDS54486.1 21q22.3 2010-04-13 ENSG00000184012 ENSG00000184012 7113 Serine peptidases / Transmembrane 11876 protein-coding gene gene with protein product 602060 NA 9325052 Standard NM_005656 NA Approved PRSS10 uc010gor.3 O15393 OTTHUMG00000086762 ENST00000332149.5:c.683+92T>C chr21.hg19:g.42851006A>G NA A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1 hg19 CCDS33564.1 0.02 8.44627 TGCxGCT COVERED NOVEL TMPRSS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195189.1 2 12.036069 KEEP 0 0 0 40 1268 AA 1 1 0 - 7 60 247 0 0 14.782876 199 60 7377 288 ENST00000332149.5 0.033981 1 TMPRSS2 7113 __UNKNOWN__ __UNKNOWN__ 21 42852591 42852591 __UNKNOWN__ Intron SNP A A G rs378501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:42852591A>G ENST00000332149.5 - 6 580 TMPRSS2_ENST00000398585.3_Intron|TMPRSS2_ENST00000458356.1_Intron NM_005656.3 NP_005647.3 O15393 TMPS2_HUMAN transmembrane protease, serine 2 NA NA positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508) extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) tttgagacggagtctcgctct 0.507 NA T ERG, ETV1, ETV4, ETV5 prostate A||| 85 0.0169728 0.0 0.0 5008 , , NA 17957 0.0833 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 21 21q22.3 7113 transmembrane protease, serine 2 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U75329 CCDS33564.1, CCDS54486.1 21q22.3 2010-04-13 ENSG00000184012 ENSG00000184012 7113 Serine peptidases / Transmembrane 11876 protein-coding gene gene with protein product 602060 NA 9325052 Standard NM_005656 NA Approved PRSS10 uc010gor.3 O15393 OTTHUMG00000086762 ENST00000332149.5:c.446-62T>C chr21.hg19:g.42852591A>G NA A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1 hg19 CCDS33564.1 0.02 1.590657 CGGxGTC COVERED NOVEL TMPRSS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195189.1 1 4.51307 KEEP 0 0 0 15 450 AA 0.99649 0.996353 0 - 5 60 174 0 0 11.429039 84 60 2978 108 ENST00000332149.5 0.05618 0.999862 RIPK4 54101 __UNKNOWN__ __UNKNOWN__ 21 43160015 43160015 __UNKNOWN__ 3'UTR SNP C C T rs3171532 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43160015C>T ENST00000332512.3 - 0 3402 RIPK4_ENST00000352483.2_3'UTR|AP001615.9_ENST00000423276.1_RNA NM_020639.2 NP_065690.2 P57078 RIPK4_HUMAN receptor-interacting serine-threonine kinase 4 NA NA morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGGGAAGGGCGCAGGTGAGC 0.453 NA C||| 2090 0.417332 0.2262 0.4395 5008 , , NA 22043 0.5952 NA 0.4354 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ278016 CCDS13675.1 21q22.3 2013-01-10 2004-07-06 2004-07-06 ENSG00000183421 ENSG00000183421 54101 Ankyrin repeat domain containing 496 protein-coding gene gene with protein product protein kinase C-associated kinase, PKC-delta-interacting protein kinase 605706 ankyrin repeat domain 3 ANKRD3 NA 10830953 Standard NM_020639 NM_020639 NA Approved DIK, ANKK2, RIP4, PKK uc002yzn.1 P57078 OTTHUMG00000086770 ENST00000332512.3:c.*983G>A chr21.hg19:g.43160015C>T NA Q96KH0 hg19 CCDS13675.1 0.02 3.956767 GGGxGCA COVERED NOVEL RIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195204.1 1 2.407787 KEEP 0 0 0 8 279 CC 0.99257 0.99257 0 - 15 60 534 0 0 39.958867 123 60 4119 165 ENST00000332512.3 0.108696 1 RIPK4 54101 __UNKNOWN__ __UNKNOWN__ 21 43160438 43160438 __UNKNOWN__ 3'UTR SNP T T C rs3746890 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43160438T>C ENST00000332512.3 - 0 2979 RIPK4_ENST00000352483.2_3'UTR|AP001615.9_ENST00000423276.1_RNA NM_020639.2 NP_065690.2 P57078 RIPK4_HUMAN receptor-interacting serine-threonine kinase 4 NA NA morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CACTACTTAGTCATCATTTAG 0.383 NA T||| 2193 0.437899 0.2542 0.4611 5008 , , NA 21772 0.5933 NA 0.4851 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ278016 CCDS13675.1 21q22.3 2013-01-10 2004-07-06 2004-07-06 ENSG00000183421 ENSG00000183421 54101 Ankyrin repeat domain containing 496 protein-coding gene gene with protein product protein kinase C-associated kinase, PKC-delta-interacting protein kinase 605706 ankyrin repeat domain 3 ANKRD3 NA 10830953 Standard NM_020639 NM_020639 NA Approved DIK, ANKK2, RIP4, PKK uc002yzn.1 P57078 OTTHUMG00000086770 ENST00000332512.3:c.*560A>G chr21.hg19:g.43160438T>C NA Q96KH0 hg19 CCDS13675.1 0.02 11.449407 TAGxCAT COVERED NOVEL RIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195204.1 0 6.620314 KEEP 0 0 0 22 708 TT 0.999879 0.999879 0 - 18 60 669 0 0 47.051291 243 60 8631 334 ENST00000332512.3 0.068966 1 RIPK4 54101 __UNKNOWN__ __UNKNOWN__ 21 43161022 43161022 __UNKNOWN__ Silent SNP C C T rs7276592 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43161022C>T ENST00000332512.3 - 8 2395 c.2331G>A c.(2329-2331)acG>acA p.T777T RIPK4_ENST00000352483.2_Silent_p.T825T|RIPK4_ENST00000544709.1_Silent_p.T714T|RIPK4_ENST00000542057.1_Silent_p.T714T|AP001615.9_ENST00000423276.1_RNA NM_020639.2 NP_065690.2 P57078 RIPK4_HUMAN receptor-interacting serine-threonine kinase 4 825 NA morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GCCGCAGGAGCGTGGCGGCGG 0.672 NA c||| 2231 0.445487 0.2799 0.4654 5008 , , NA 15770 0.5933 NA 0.4851 False NA ,,, NA NA NA 2504 0.4622 NA NA NA NA 0 A 1342,3028 210,922,1053 24 25 25 2331 -9.2 0 21 dbSNP_116 25 3644,4866 847,1950,1458 no coding-synonymous RIPK4 NM_020639.2 1057,2872,2511 TT,TC,CC 42.8202,30.7094,38.7112 777/785 43161022 4986,7894 2185 4255 6440 SO:0001819 synonymous_variant AJ278016 CCDS13675.1 21q22.3 2013-01-10 2004-07-06 2004-07-06 ENSG00000183421 ENSG00000183421 54101 Ankyrin repeat domain containing 496 protein-coding gene gene with protein product protein kinase C-associated kinase, PKC-delta-interacting protein kinase 605706 ankyrin repeat domain 3 ANKRD3 NA 10830953 Standard NM_020639 NM_020639 NA Approved DIK, ANKK2, RIP4, PKK uc002yzn.1 P57078 OTTHUMG00000086770 ENST00000332512.3:c.2331G>A chr21.hg19:g.43161022C>T NA Q96KH0 hg19 CCDS13675.1 0.02 4.138979 GAGxGTG COVERED NOVEL RIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195204.1 2 8.42716 KEEP 0 0 0 28 982 CC 0.999997 0.999986 0 - 8 60 269 0 0 18.377816 99 60 3540 154 ENST00000332512.3 0.074766 0.999989 RIPK4 54101 __UNKNOWN__ __UNKNOWN__ 21 43161357 43161357 __UNKNOWN__ Missense_Mutation SNP T T C rs3746891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43161357T>C ENST00000332512.3 - 8 2060 c.1996A>G c.(1996-1998)Atg>Gtg p.M666V RIPK4_ENST00000352483.2_Missense_Mutation_p.M714V|RIPK4_ENST00000544709.1_Missense_Mutation_p.M603V|RIPK4_ENST00000542057.1_Missense_Mutation_p.M603V|AP001615.9_ENST00000423276.1_RNA NM_020639.2 NP_065690.2 P57078 RIPK4_HUMAN receptor-interacting serine-threonine kinase 4 714 NA morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCTGAGGTCATGGCCTCCTTG 0.682 NA C||| 4792 0.956869 0.9985 1.0 5008 , , NA 17869 0.9107 NA 0.9791 False NA ,,, NA NA NA 2504 0.8947 NA NA NA NA 0 C VAL/MET 4380,26 31.7+/-61.6 2178,24,1 47 50 49 1996 -0.1 0.1 21 dbSNP_107 49 8366,232 94.2+/-156.2 4070,226,3 yes missense RIPK4 NM_020639.2 21 6248,250,4 CC,CT,TT 2.6983,0.5901,1.984 benign 666/785 43161357 12746,258 2203 4299 6502 SO:0001583 missense AJ278016 CCDS13675.1 21q22.3 2013-01-10 2004-07-06 2004-07-06 ENSG00000183421 ENSG00000183421 54101 Ankyrin repeat domain containing 496 protein-coding gene gene with protein product protein kinase C-associated kinase, PKC-delta-interacting protein kinase 605706 ankyrin repeat domain 3 ANKRD3 NA 10830953 Standard NM_020639 NM_020639 NA Approved DIK, ANKK2, RIP4, PKK uc002yzn.1 P57078 OTTHUMG00000086770 ENST00000332512.3:c.1996A>G chr21.hg19:g.43161357T>C ENSP00000332454:p.Met666Val NA Q96KH0 hg19 CCDS13675.1 0.02 11.196494 TCAxGGC COVERED 2111 0.9665750915750916 490 0.9959349593495935 362 1.0 519 0.9073426573426573 740 0.9762532981530343 C 2.645 -0.283167 0.05642 0.994099 0.973017 ENSG00000183421 ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057 T;T;T;T 0.63255 -0.03;-0.03;-0.03;-0.03 4.52 -0.0937 0.13648 . 0.543338 0.15918 N 0.238245 T 0.00012 0.0000 N 0.02842 -0.48 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.25187 -1.0139 9 0.13470 T 0.59 -13.1461 2.795 0.05398 0.1253:0.4387:0.2715:0.1645 rs3746891;rs3746891 666 P57078-2 . V 666;714;603;603 ENSP00000332454:M666V;ENSP00000330161:M714V;ENSP00000441754:M603V;ENSP00000442901:M603V ENSP00000332454:M666V M - 1 0 RIPK4 42034426 0.000000 0.05858 0.116000 0.21606 0.117000 0.20001 0.638000 0.24674 0.005000 0.14708 -0.215000 0.12644 ATG NOVEL RIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195204.1 2 7.656114 KEEP 0 1 36 38 1164 TT 1 1 0 - 17 60 620 0 0 42.672569 249 60 9056 345 ENST00000332512.3 0.06391 1 RIPK4 54101 __UNKNOWN__ __UNKNOWN__ 21 43161877 43161877 __UNKNOWN__ Silent SNP C C T rs3746893 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43161877C>T ENST00000332512.3 - 8 1540 c.1476G>A c.(1474-1476)gcG>gcA p.A492A RIPK4_ENST00000352483.2_Silent_p.A540A|RIPK4_ENST00000544709.1_Silent_p.A429A|RIPK4_ENST00000542057.1_Silent_p.A429A NM_020639.2 NP_065690.2 P57078 RIPK4_HUMAN receptor-interacting serine-threonine kinase 4 540 NA morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGATCTTCCGCGCCAGCAGGA 0.622 NA C||| 2204 0.440096 0.2806 0.4654 5008 , , NA 20718 0.5704 NA 0.4811 False NA ,,, NA NA NA 2504 0.4611 NA NA NA NA 0 C 1415,2991 463.0+/-353.4 210,995,998 109 92 98 1476 0.8 0.7 21 dbSNP_107 98 3772,4828 535.7+/-382.9 848,2076,1376 yes coding-synonymous RIPK4 NM_020639.2 1058,3071,2374 TT,TC,CC 43.8605,32.1153,39.8816 492/785 43161877 5187,7819 2203 4300 6503 SO:0001819 synonymous_variant AJ278016 CCDS13675.1 21q22.3 2013-01-10 2004-07-06 2004-07-06 ENSG00000183421 ENSG00000183421 54101 Ankyrin repeat domain containing 496 protein-coding gene gene with protein product protein kinase C-associated kinase, PKC-delta-interacting protein kinase 605706 ankyrin repeat domain 3 ANKRD3 NA 10830953 Standard NM_020639 NM_020639 NA Approved DIK, ANKK2, RIP4, PKK uc002yzn.1 P57078 OTTHUMG00000086770 ENST00000332512.3:c.1476G>A chr21.hg19:g.43161877C>T NA Q96KH0 hg19 CCDS13675.1 0.02 16.72516 CCGxGCC COVERED NOVEL RIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195204.1 1 15.647759 KEEP 0 0 0 52 1798 CC 1 1 0 - 12 60 421 0 0 24.017985 430 60 14863 600 ENST00000332512.3 0.027149 1 RIPK4 54101 __UNKNOWN__ __UNKNOWN__ 21 43162150 43162150 __UNKNOWN__ Silent SNP G G A rs3746894 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43162150G>A ENST00000332512.3 - 8 1267 c.1203C>T c.(1201-1203)ggC>ggT p.G401G RIPK4_ENST00000352483.2_Silent_p.G449G|RIPK4_ENST00000544709.1_Silent_p.G338G|RIPK4_ENST00000542057.1_Silent_p.G338G NM_020639.2 NP_065690.2 P57078 RIPK4_HUMAN receptor-interacting serine-threonine kinase 4 449 NA morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGTCTGTGGTGCCCAGATCTG 0.617 NA G||| 2204 0.440096 0.2806 0.4654 5008 , , NA 19302 0.5714 NA 0.4811 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 G 1394,3008 215,964,1022 107 111 109 1203 2.1 0.4 21 dbSNP_107 109 3745,4847 852,2041,1403 yes coding-synonymous RIPK4 NM_020639.2 1067,3005,2425 AA,AG,GG 43.5871,31.6674,39.549 401/785 43162150 5139,7855 2201 4296 6497 SO:0001819 synonymous_variant AJ278016 CCDS13675.1 21q22.3 2013-01-10 2004-07-06 2004-07-06 ENSG00000183421 ENSG00000183421 54101 Ankyrin repeat domain containing 496 protein-coding gene gene with protein product protein kinase C-associated kinase, PKC-delta-interacting protein kinase 605706 ankyrin repeat domain 3 ANKRD3 NA 10830953 Standard NM_020639 NM_020639 NA Approved DIK, ANKK2, RIP4, PKK uc002yzn.1 P57078 OTTHUMG00000086770 ENST00000332512.3:c.1203C>T chr21.hg19:g.43162150G>A NA Q96KH0 hg19 CCDS13675.1 0.02 5.969731 GGTxCCC COVERED NOVEL RIPK4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195204.1 2 3.611639 KEEP 0 0 0 12 412 GG 0.993634 0.993634 0 - 6 60 222 1 0 13.616978 176 60 6623 237 ENST00000332512.3 0.032967 1 PRDM15 63977 __UNKNOWN__ __UNKNOWN__ 21 43219728 43219728 __UNKNOWN__ 3'UTR SNP A A T rs2298642 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43219728A>T ENST00000398548.1 - 0 5310 PRDM15_ENST00000538201.1_3'UTR|PRDM15_ENST00000422911.1_3'UTR|PRDM15_ENST00000447207.2_Intron|PRDM15_ENST00000470586.1_Intron NM_001040424.1 NP_001035514.1 P57071 PRD15_HUMAN PR domain containing 15 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 GGGGATGAACATTCCTTAGTT 0.488 NA t||| 2322 0.463658 0.6157 0.3804 5008 , , NA 17306 0.4613 NA 0.4642 False NA ,,, NA NA NA 2504 0.319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF276513 CCDS13676.1, CCDS42932.1, CCDS63370.1 21q22.3 2013-01-08 2002-07-31 ENSG00000141956 ENSG00000141956 63977 Zinc fingers, C2H2-type 13999 protein-coding gene gene with protein product chromosome 21 open reading frame 83 ZNF298, C21orf83 NA 12036297, 12036298 Standard NM_022115 NM_022115 NA Approved uc002yzq.1 P57071 OTTHUMG00000086781 ENST00000398548.1:c.*1672T>A chr21.hg19:g.43219728A>T NA E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3 hg19 CCDS42932.1 0.02 3.91309 AACxTTC COVERED NOVEL PRDM15-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339836.1 1 8.122606 KEEP 0 0 0 27 810 AA 0.999988 0.999988 0 - 5 60 185 0 0 11.459961 139 60 5186 215 ENST00000398548.1 0.034722 1 PRDM15 63977 __UNKNOWN__ __UNKNOWN__ 21 43231271 43231271 __UNKNOWN__ Intron SNP A A G rs28610063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43231271A>G ENST00000398548.1 - 20 2605 PRDM15_ENST00000269844.3_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000447207.2_Intron NM_001040424.1 NP_001035514.1 P57071 PRD15_HUMAN PR domain containing 15 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TCTCCCTGACACGTTCCAGGC 0.498 NA a||| 1427 0.284944 0.2352 0.2493 5008 , , NA 21675 0.4246 NA 0.2535 False NA ,,, NA NA NA 2504 0.2658 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF276513 CCDS13676.1, CCDS42932.1, CCDS63370.1 21q22.3 2013-01-08 2002-07-31 ENSG00000141956 ENSG00000141956 63977 Zinc fingers, C2H2-type 13999 protein-coding gene gene with protein product chromosome 21 open reading frame 83 ZNF298, C21orf83 NA 12036297, 12036298 Standard NM_022115 NM_022115 NA Approved uc002yzq.1 P57071 OTTHUMG00000086781 ENST00000398548.1:c.2504-79T>C chr21.hg19:g.43231271A>G NA E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3 hg19 CCDS42932.1 0.02 11.275634 GACxCGT COVERED NOVEL PRDM15-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339836.1 1 5.4148 KEEP 0 0 0 18 537 AA 0.999859 0.999859 0 - 8 60 293 0 0 17.640338 250 60 8920 327 ENST00000398548.1 0.031008 1 PRDM15 63977 __UNKNOWN__ __UNKNOWN__ 21 43256252 43256252 __UNKNOWN__ Silent SNP C C T rs4920098 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43256252C>T ENST00000398548.1 - 10 1460 c.1359G>A c.(1357-1359)caG>caA p.Q453Q PRDM15_ENST00000269844.3_Silent_p.Q782Q|PRDM15_ENST00000538201.1_Silent_p.Q416Q|PRDM15_ENST00000422911.1_Silent_p.Q453Q|PRDM15_ENST00000447207.2_Silent_p.Q416Q NM_001040424.1 NP_001035514.1 P57071 PRD15_HUMAN PR domain containing 15 782 SET. {ECO:0000255|PROSITE- ProRule:PRU00190}. NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGGAAACGTGCTGCTTTAGGC 0.493 NA c||| 2683 0.535743 0.4599 0.6671 5008 , , NA 13236 0.4425 NA 0.5915 False NA ,,, NA NA NA 2504 0.5838 NA NA NA NA 0 , 2099,2307 573.2+/-383.5 492,1115,596 269 198 222 1359,2346 0.6 1 21 dbSNP_111 222 5097,3503 632.3+/-398.6 1513,2071,716 no coding-synonymous,coding-synonymous PRDM15 NM_001040424.1,NM_022115.3 , 2005,3186,1312 TT,TC,CC 40.7326,47.6396,44.6717 , 453/1179,782/1508 43256252 7196,5810 2203 4300 6503 SO:0001819 synonymous_variant AF276513 CCDS13676.1, CCDS42932.1, CCDS63370.1 21q22.3 2013-01-08 2002-07-31 ENSG00000141956 ENSG00000141956 63977 Zinc fingers, C2H2-type 13999 protein-coding gene gene with protein product chromosome 21 open reading frame 83 ZNF298, C21orf83 NA 12036297, 12036298 Standard NM_022115 NM_022115 NA Approved uc002yzq.1 P57071 OTTHUMG00000086781 ENST00000398548.1:c.1359G>A chr21.hg19:g.43256252C>T NA E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3 hg19 CCDS42932.1 0.02 1.719436 GTGxTGC COVERED NOVEL PRDM15-018 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000339836.1 1 7.223674 KEEP 0 0 0 24 863 CC 0.999909 0.999865 0 - 4 60 142 0 0 8.836414 95 60 3579 153 ENST00000398548.1 0.040404 0.999956 C2CD2 25966 __UNKNOWN__ __UNKNOWN__ 21 43305463 43305463 __UNKNOWN__ 3'UTR SNP G G A rs3169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43305463G>A ENST00000380486.3 - 0 6102 C2CD2_ENST00000329623.7_3'UTR NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 NA NA cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ATGCAGTTTCGACATAACATT 0.468 NA G||| 1051 0.209864 0.0794 0.1931 5008 , , NA 21668 0.3105 NA 0.3022 False NA ,,, NA NA NA 2504 0.1994 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB047784 CCDS13677.1, CCDS42933.1 21q22.3 2008-11-24 2007-10-17 2007-10-17 ENSG00000157617 ENSG00000157617 25966 1266 protein-coding gene gene with protein product TMEM24-like chromosome 21 open reading frame 25 C21orf25 NA 15289880 Standard NM_015500 NM_015500 NA Approved TMEM24L, DKFZP586F0422, C21orf258 uc002yzw.3 Q9Y426 OTTHUMG00000086779 ENST00000380486.3:c.*3770C>T chr21.hg19:g.43305463G>A NA Q5R2V7|Q6AHX8|Q9NSE6 hg19 CCDS42933.1 0.02 8.592591 TTCxACA COVERED NOVEL C2CD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195228.2 1 5.35191 KEEP 0 1 35 30 983 GG 0.999997 0.999997 0 - 8 60 295 0 0 18.546897 203 60 7044 264 ENST00000380486.3 0.037915 1 C2CD2 25966 __UNKNOWN__ __UNKNOWN__ 21 43305937 43305937 __UNKNOWN__ 3'UTR SNP G G A rs2236438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43305937G>A ENST00000380486.3 - 0 5628 C2CD2_ENST00000329623.7_3'UTR NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 NA NA cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 AAATCTAAACGGGCACCAGGT 0.468 NA G||| 702 0.140176 0.0643 0.098 5008 , , NA 19308 0.2728 NA 0.1491 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB047784 CCDS13677.1, CCDS42933.1 21q22.3 2008-11-24 2007-10-17 2007-10-17 ENSG00000157617 ENSG00000157617 25966 1266 protein-coding gene gene with protein product TMEM24-like chromosome 21 open reading frame 25 C21orf25 NA 15289880 Standard NM_015500 NM_015500 NA Approved TMEM24L, DKFZP586F0422, C21orf258 uc002yzw.3 Q9Y426 OTTHUMG00000086779 ENST00000380486.3:c.*3296C>T chr21.hg19:g.43305937G>A NA Q5R2V7|Q6AHX8|Q9NSE6 hg19 CCDS42933.1 0.02 9.108671 AACxGGC COVERED NOVEL C2CD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195228.2 0 17.300844 KEEP 0 1 12 62 2064 GG 1 1 0 - 9 60 340 0 0 22.164412 201 60 7031 329 ENST00000380486.3 0.042857 1 C2CD2 25966 __UNKNOWN__ __UNKNOWN__ 21 43307584 43307584 __UNKNOWN__ 3'UTR SNP G G A rs574162807 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43307584G>A ENST00000380486.3 - 0 3981 C2CD2_ENST00000329623.7_3'UTR NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 NA NA cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 TATAATTTTGGTTTTTATACA 0.234 NA G||| 1 0.000199681 0.0 0.0 5008 , , NA 13109 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB047784 CCDS13677.1, CCDS42933.1 21q22.3 2008-11-24 2007-10-17 2007-10-17 ENSG00000157617 ENSG00000157617 25966 1266 protein-coding gene gene with protein product TMEM24-like chromosome 21 open reading frame 25 C21orf25 NA 15289880 Standard NM_015500 NM_015500 NA Approved TMEM24L, DKFZP586F0422, C21orf258 uc002yzw.3 Q9Y426 OTTHUMG00000086779 ENST00000380486.3:c.*1649C>T chr21.hg19:g.43307584G>A NA Q5R2V7|Q6AHX8|Q9NSE6 hg19 CCDS42933.1 0.02 1.906949 TTGxTTT COVERED NOVEL C2CD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195228.2 0 5.417554 KEEP 0 0 0 18 637 GG 0.999859 0.999663 0 - 4 60 147 0 0 9.524126 85 60 3128 111 ENST00000380486.3 0.044944 0.999804 C2CD2 25966 __UNKNOWN__ __UNKNOWN__ 21 43315019 43315019 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43315019G>A ENST00000380486.3 - 13 2112 C2CD2_ENST00000329623.7_Intron NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 NA NA cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CTGCTGGGCAGTAACCCCATA 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB047784 CCDS13677.1, CCDS42933.1 21q22.3 2008-11-24 2007-10-17 2007-10-17 ENSG00000157617 ENSG00000157617 25966 1266 protein-coding gene gene with protein product TMEM24-like chromosome 21 open reading frame 25 C21orf25 NA 15289880 Standard NM_015500 NM_015500 NA Approved TMEM24L, DKFZP586F0422, C21orf258 uc002yzw.3 Q9Y426 OTTHUMG00000086779 ENST00000380486.3:c.1870+4142C>T chr21.hg19:g.43315019G>A NA Q5R2V7|Q6AHX8|Q9NSE6 hg19 CCDS42933.1 0.02 6.223898 GCAxTAA COVERED NOVEL C2CD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195228.2 0 10.530578 KEEP 0 0 0 35 1180 GG 0.999999 0.999999 0 - 10 60 363 0 0 24.137686 177 60 6544 237 ENST00000380486.3 0.053476 1 C2CD2 25966 __UNKNOWN__ __UNKNOWN__ 21 43315057 43315057 __UNKNOWN__ Intron SNP C C T rs2839411 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43315057C>T ENST00000380486.3 - 13 2112 C2CD2_ENST00000329623.7_Intron NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 NA NA cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634) endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CCCACCTCCACGAGCAACACC 0.582 NA C||| 3641 0.727037 0.857 0.6542 5008 , , NA 19587 0.6994 NA 0.7614 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB047784 CCDS13677.1, CCDS42933.1 21q22.3 2008-11-24 2007-10-17 2007-10-17 ENSG00000157617 ENSG00000157617 25966 1266 protein-coding gene gene with protein product TMEM24-like chromosome 21 open reading frame 25 C21orf25 NA 15289880 Standard NM_015500 NM_015500 NA Approved TMEM24L, DKFZP586F0422, C21orf258 uc002yzw.3 Q9Y426 OTTHUMG00000086779 ENST00000380486.3:c.1870+4104G>A chr21.hg19:g.43315057C>T NA Q5R2V7|Q6AHX8|Q9NSE6 hg19 CCDS42933.1 0.02 6.105055 CCAxGAG COVERED 1626 0.7445054945054945 418 0.8495934959349594 249 0.6878453038674033 390 0.6818181818181818 569 0.7506596306068601 C 2.257 -0.370213 0.05069 . . ENSG00000215494 ENST00000400449 . . . 1.84 -0.154 0.13399 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.18178 -1.0345 4 0.87932 D 0 . 5.2209 0.15368 0.0:0.6398:0.2089:0.1513 rs2839411;rs17766625;rs61353201;rs2839411 . . . H 31 . ENSP00000383299:R31H R - 2 0 AP001619.1 42188126 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.225000 0.09151 -0.395000 0.07715 -1.164000 0.01763 CGT NOVEL C2CD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195228.2 0 5.71174 KEEP 0 0 0 19 606 CC 0.99986 0.99986 0 - 6 60 213 0 0 13.143604 149 60 5037 188 ENST00000380486.3 0.03871 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43510427 43510427 __UNKNOWN__ Silent SNP T T C rs67055914 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43510427T>C ENST00000408910.2 + 6 810 c.810T>C c.(808-810)taT>taC p.Y270Y UMODL1_ENST00000408989.2_Silent_p.Y270Y|UMODL1_ENST00000400427.1_Silent_p.Y198Y|UMODL1_ENST00000400424.2_Silent_p.Y198Y NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 270 EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AGTGTTTCTATGAGGAGCTCA 0.567 NA C||| 1506 0.300719 0.2965 0.2997 5008 , , NA 20986 0.374 NA 0.2018 False NA ,,, NA NA NA 2504 0.3333 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 C ,,, 1047,3241 136,775,1233 124 127 126 810,594,594,810 -3.2 0 21 dbSNP_130 126 1778,6702 189,1400,2651 yes coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 ,,, 325,2175,3884 CC,CT,TT 20.967,24.417,22.1256 ,,, 270/1319,198/1375,198/1247,270/1447 43510427 2825,9943 2144 4240 6384 SO:0001819 synonymous_variant CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.810T>C chr21.hg19:g.43510427T>C NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 3.769373 CTAxGAG COVERED 601 0.2751831501831502 134 0.27235772357723576 110 0.30386740331491713 209 0.36538461538461536 148 0.19525065963060687 C 0.005 -2.138538 0.00335 0.24417 0.20967 ENSG00000177398 ENST00000423139 . . . 3.89 -3.21 0.05140 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.27640 -1.0068 3 . . . -3.4913 11.1076 0.48212 0.0:0.3109:0.0:0.6891 . . . . T 43 . . M + 2 0 UMODL1 42383496 0.000000 0.05858 0.000000 0.03702 0.050000 0.14768 -2.077000 0.01371 -1.396000 0.02071 -1.741000 0.00685 ATG NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 0 7.823619 KEEP 0 0 0 26 810 TT 0.999957 0.999957 0 + 9 60 293 0 0 18.861963 140 60 5236 220 ENST00000408910.2 0.060403 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43510437 43510437 __UNKNOWN__ Missense_Mutation SNP A A C rs17114359 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43510437A>C ENST00000408910.2 + 6 820 c.820A>C c.(820-822)Aat>Cat p.N274H UMODL1_ENST00000408989.2_Missense_Mutation_p.N274H|UMODL1_ENST00000400427.1_Missense_Mutation_p.N202H|UMODL1_ENST00000400424.2_Missense_Mutation_p.N202H NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 274 EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}. NA N -> D (in dbSNP:rs17114359). {ECO:0000269|PubMed:16026467}.|N -> H (in dbSNP:rs17114359). {ECO:0000269|PubMed:16026467}. adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TGAGGAGCTCAATGCCTGCTC 0.557 NA A||| 1206 0.240815 0.0832 0.281 5008 , , NA 20658 0.374 NA 0.2018 False NA ,,, NA NA NA 2504 0.3282 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 A HIS/ASN,HIS/ASN,HIS/ASN,HIS/ASN 371,3907 36,299,1804 133 135 134 820,604,604,820 1.5 0 21 dbSNP_123 134 1754,6718 214,1326,2696 yes missense,missense,missense,missense UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 68,68,68,68 250,1625,4500 CC,CA,AA 20.7035,8.6723,16.6667 probably-damaging,probably-damaging,probably-damaging,probably-damaging 274/1319,202/1375,202/1247,274/1447 43510437 2125,10625 2139 4236 6375 SO:0001583 missense CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.820A>C chr21.hg19:g.43510437A>C ENSP00000386147:p.Asn274His NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 7.294164 CTCxATG COVERED 511 0.23397435897435898 45 0.09146341463414634 104 0.287292817679558 209 0.36538461538461536 153 0.20184696569920843 A 6.001 0.368519 0.11352 0.086723 0.207035 ENSG00000177398 ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417 D;D;D;D 0.91686 -2.89;-2.89;-2.89;-2.89 3.89 1.51 0.23008 EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1); 0.921215 0.08894 N 0.878228 T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;B 0.30236 0.274;0.007 B;B 0.30782 0.12;0.022 T 0.01488 -1.1342 9 0.44086 T 0.13 -5.2933 8.6932 0.34280 0.4946:0.5054:0.0:0.0 . 274;274 Q5DID0-2;Q5DID0 .;UROL1_HUMAN H 202;202;274;274;120;120 ENSP00000383279:N202H;ENSP00000383276:N202H;ENSP00000386126:N274H;ENSP00000386147:N274H ENSP00000369829:N120H N + 1 0 UMODL1 42383506 0.925000 0.31364 0.004000 0.12327 0.044000 0.14063 1.864000 0.39469 0.188000 0.20168 0.260000 0.18958 AAT NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 0 7.823169 KEEP 0 0 0 26 805 AA 0.999988 0.999988 0 + 10 60 360 0 0 24.649182 146 60 5371 226 ENST00000408910.2 0.064103 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43521647 43521647 __UNKNOWN__ Intron SNP G G A rs66994219 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43521647G>A ENST00000408910.2 + 8 1186 UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 NA NA adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AATTGCCGCCGACCTGCTCCT 0.542 NA G||| 930 0.185703 0.0582 0.2536 5008 , , NA 15865 0.1895 NA 0.2197 False NA ,,, NA NA NA 2504 0.271 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.1187-629G>A chr21.hg19:g.43521647G>A NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 6.209737 GCCxACC COVERED NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 1 2.708144 KEEP 0 0 0 9 284 GG 0.99254 0.99254 0 + 10 60 371 0 0 24.635602 190 60 6183 212 ENST00000408910.2 0.05 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43521902 43521902 __UNKNOWN__ Intron SNP G G A rs12483409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43521902G>A ENST00000408910.2 + 8 1186 UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 NA NA adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 ccctGATGTTGGGGGCCTGAG 0.562 NA G||| 1131 0.225839 0.1899 0.268 5008 , , NA 17942 0.2014 NA 0.2197 False NA ,,, NA NA NA 2504 0.2761 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.1187-374G>A chr21.hg19:g.43521902G>A NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 11.310483 GTTxGGG COVERED NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 2 5.417182 KEEP 0 0 0 18 601 GG 0.999859 0.999859 0 + 17 60 632 0 0 44.222702 237 60 8687 294 ENST00000408910.2 0.066929 1 C21orf128 150147 __UNKNOWN__ __UNKNOWN__ 21 43522349 43522349 __UNKNOWN__ 3'UTR SNP T T C rs220109 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43522349T>C ENST00000329015.2 - 0 2035 UMODL1_ENST00000408989.2_Silent_p.S420S|UMODL1_ENST00000408910.2_Silent_p.S420S|UMODL1_ENST00000400427.1_Silent_p.S348S|UMODL1_ENST00000400424.2_Silent_p.S348S chromosome 21 open reading frame 128 NA NA lung(4) 4 ACCGCAGCAGTGTGGAGTACC 0.438 NA C||| 2716 0.542332 0.4516 0.6484 5008 , , NA 20187 0.5813 NA 0.5358 False NA ,,, NA NA NA 2504 0.5562 NA NA NA NA 0 C ,,, 1858,1970 454,950,510 90 89 89 1260,1044,1044,1260 1.1 0.1 21 dbSNP_79 89 4490,3774 1235,2020,877 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 ,,, 1689,2970,1387 CC,CT,TT 45.668,48.5371,47.5025 ,,, 420/1319,348/1375,348/1247,420/1447 43522349 6348,5744 1914 4132 6046 SO:0001624 3_prime_UTR_variant 21q22.3 2013-01-15 ENSG00000184385 ENSG00000184385 150147 23821 protein-coding gene gene with protein product NA Standard NR_027243 NR_027243 NA Approved FLJ33471 uc002zak.2 Q8N2C9 OTTHUMG00000086790 ENST00000329015.2:c.*1395A>G chr21.hg19:g.43522349T>C NA hg19 0.02 26.189411 CAGxGTG COVERED NOVEL C21orf128-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000195312.2 3 18.892393 KEEP 0 1 35 75 2374 TT 1 1 0 - 28 60 1036 0 0 68.56652 538 60 19500 791 ENST00000329015.2 0.04947 1 C21orf128 150147 __UNKNOWN__ __UNKNOWN__ 21 43523430 43523430 __UNKNOWN__ 3'UTR SNP G G T rs8129075 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43523430G>T ENST00000329015.2 - 0 954 UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron chromosome 21 open reading frame 128 NA NA lung(4) 4 CCTCCCTTTTGAAATGTTAAC 0.488 NA T||| 1253 0.2502 0.2791 0.2752 5008 , , NA 21630 0.2004 NA 0.2197 False NA ,,, NA NA NA 2504 0.2761 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant 21q22.3 2013-01-15 ENSG00000184385 ENSG00000184385 150147 23821 protein-coding gene gene with protein product NA Standard NR_027243 NR_027243 NA Approved FLJ33471 uc002zak.2 Q8N2C9 OTTHUMG00000086790 ENST00000329015.2:c.*314C>A chr21.hg19:g.43523430G>T NA hg19 0.02 6.463297 TTTxAAA COVERED NOVEL C21orf128-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000195312.2 1 3.611684 KEEP 0 0 0 12 419 GG 0.993634 0.993634 0 - 10 60 353 0 0 23.536735 161 60 6082 202 ENST00000329015.2 0.05848 1 C21orf128 150147 __UNKNOWN__ __UNKNOWN__ 21 43523972 43523972 __UNKNOWN__ Silent SNP G G C rs11701371 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43523972G>C ENST00000329015.2 - 2 412 c.261C>G c.(259-261)gcC>gcG p.A87A UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000408910.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron chromosome 21 open reading frame 128 NA NA lung(4) 4 GCCTCTTCTTGGCTAGGTCGA 0.542 NA G||| 1004 0.200479 0.1142 0.2565 5008 , , NA 20301 0.1895 NA 0.2197 False NA ,,, NA NA NA 2504 0.2689 NA NA NA NA 0 G ,,, 605,3801 264.1+/-265.8 32,541,1630 230 154 180 ,,, -0.8 0 21 dbSNP_120 180 1942,6658 342.3+/-324.4 218,1506,2576 no intron,intron,intron,intron UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 ,,, 250,2047,4206 CC,CG,GG 22.5814,13.7313,19.5833 ,,, ,,, 43523972 2547,10459 2203 4300 6503 SO:0001819 synonymous_variant 21q22.3 2013-01-15 ENSG00000184385 ENSG00000184385 150147 23821 protein-coding gene gene with protein product NA Standard NR_027243 NR_027243 NA Approved FLJ33471 uc002zak.2 Q8N2C9 OTTHUMG00000086790 ENST00000329015.2:c.261C>G chr21.hg19:g.43523972G>C NA hg19 0.02 11.111704 CTTxGCT COVERED NOVEL C21orf128-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000195312.2 1 8.728536 KEEP 0 0 0 29 1033 GG 0.999997 0.999997 0 - 21 60 738 0 0 52.365001 233 60 8629 330 ENST00000329015.2 0.082677 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43529642 43529642 __UNKNOWN__ Intron SNP A A C rs8127300 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43529642A>C ENST00000408910.2 + 10 1519 UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 NA NA adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CTGTTTTCTCATGGGTTTTGA 0.582 NA A||| 1183 0.236222 0.2201 0.268 5008 , , NA 17505 0.1994 NA 0.2296 False NA ,,, NA NA NA 2504 0.2802 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 A ,,, 803,3235 73,657,1289 79 87 84 ,,, -3.2 0 21 dbSNP_116 84 1826,6536 209,1408,2564 no intron,intron,intron,intron UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 ,,, 282,2065,3853 CC,CA,AA 21.8369,19.8861,21.2016 ,,, ,,, 43529642 2629,9771 2019 4181 6200 SO:0001627 intron_variant CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.1520-30A>C chr21.hg19:g.43529642A>C NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 9.365555 CTCxTGG COVERED NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 0 5.25971 KEEP 0 2 70 42 1295 AA 1 1 0 + 15 60 567 0 0 39.24768 234 60 8561 355 ENST00000408910.2 0.060241 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43531008 43531008 __UNKNOWN__ Missense_Mutation SNP T T C rs220126 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43531008T>C ENST00000408910.2 + 11 1676 c.1676T>C c.(1675-1677)aTg>aCg p.M559T UMODL1_ENST00000408989.2_Missense_Mutation_p.M559T|UMODL1_ENST00000400427.1_Missense_Mutation_p.M487T|UMODL1_ENST00000400424.2_Missense_Mutation_p.M487T NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 559 NA M -> T (in dbSNP:rs220126). {ECO:0000269|PubMed:15194491, ECO:0000269|PubMed:16026467}. adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GTGAGCCCCATGGGCGGTGGA 0.632 NA C||| 3847 0.768171 0.5817 0.8516 5008 , , NA 15312 0.8909 NA 0.8042 False NA ,,, NA NA NA 2504 0.7975 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 C THR/MET,THR/MET,THR/MET,THR/MET 2745,1387 923,899,244 22 28 26 1676,1460,1460,1676 1.9 0 21 dbSNP_79 26 6724,1690 2705,1314,188 yes missense,missense,missense,missense UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 81,81,81,81 3628,2213,432 CC,CT,TT 20.0856,33.5673,24.5257 benign,benign,benign,benign 559/1319,487/1375,487/1247,559/1447 43531008 9469,3077 2066 4207 6273 SO:0001583 missense CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.1676T>C chr21.hg19:g.43531008T>C ENSP00000386147:p.Met559Thr NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 13.128729 CCAxGGG COVERED 1709 0.7825091575091575 284 0.5772357723577236 302 0.8342541436464088 503 0.8793706293706294 620 0.8179419525065963 C 0.005 -2.142517 0.00332 0.664327 0.799144 ENSG00000177398 ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910 T;T;T;T 0.70045 -0.45;-0.44;-0.45;-0.44 3.7 1.88 0.25563 . 0.642001 0.12970 N 0.424186 T 0.00012 0.0000 N 0.00926 -1.1 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.38373 -0.9664 9 0.02654 T 1 -0.9973 6.4164 0.21719 0.0:0.704:0.0:0.296 rs220126;rs57829620 559;559 Q5DID0-2;Q5DID0 .;UROL1_HUMAN T 487;487;559;559 ENSP00000383279:M487T;ENSP00000383276:M487T;ENSP00000386126:M559T;ENSP00000386147:M559T ENSP00000383276:M487T M + 2 0 UMODL1 42404077 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.208000 0.09371 0.188000 0.20168 -0.119000 0.15052 ATG NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 0 13.573286 KEEP 0 1 31 56 1723 TT 1 1 0 + 20 60 663 0 1 42.818038 321 60 11315 510 ENST00000408910.2 0.058651 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43539293 43539293 __UNKNOWN__ Missense_Mutation SNP G G A rs220146 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43539293G>A ENST00000408910.2 + 15 2548 c.2548G>A c.(2548-2550)Gtc>Atc p.V850I UMODL1_ENST00000408989.2_Missense_Mutation_p.V978I|UMODL1_ENST00000400427.1_Missense_Mutation_p.V906I|UMODL1_ENST00000400424.2_Missense_Mutation_p.V778I NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 850 SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}. NA V -> I (in dbSNP:rs220146). {ECO:0000269|PubMed:16026467}. adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AGTCGTCAGCGTCACCAACGG 0.597 NA G||| 1097 0.21905 0.1543 0.33 5008 , , NA 18810 0.2222 NA 0.2227 False NA ,,, NA NA NA 2504 0.2209 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 G ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL 667,3723 252.4+/-258.8 54,559,1582 223 234 231 2548,2716,2332,2932 -6.2 0 21 dbSNP_79 231 1813,6755 318.4+/-313.7 193,1427,2664 yes missense,missense,missense,missense UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 29,29,29,29 247,1986,4246 AA,AG,GG 21.1601,15.1936,19.1388 benign,benign,benign,benign 850/1319,906/1375,778/1247,978/1447 43539293 2480,10478 2195 4284 6479 SO:0001583 missense CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.2548G>A chr21.hg19:g.43539293G>A ENSP00000386147:p.Val850Ile NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 4.437448 AGCxTCA COVERED 502 0.22985347985347984 80 0.16260162601626016 112 0.30939226519337015 131 0.229020979020979 179 0.23614775725593667 G 0.004 -2.333671 0.00227 0.151936 0.211601 ENSG00000177398 ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910 T;T;T;T 0.37584 1.19;1.19;1.19;1.19 3.75 -6.16 0.02098 SEA (1); 0.301289 0.22945 N 0.053726 T 0.00012 0.0000 N 0.01048 -1.04 0.80722 P 0.0 B;B 0.18310 0.027;0.001 B;B 0.12156 0.007;0.003 T 0.35624 -0.9781 8 . . . -23.2709 14.5121 0.67794 0.348:0.0:0.652:0.0 rs220146;rs60151193;rs220146 978;850 Q5DID0-2;Q5DID0 .;UROL1_HUMAN I 906;778;978;850 ENSP00000383279:V906I;ENSP00000383276:V778I;ENSP00000386126:V978I;ENSP00000386147:V850I . V + 1 0 UMODL1 42412362 0.000000 0.05858 0.004000 0.12327 0.019000 0.09904 -0.816000 0.04477 -1.273000 0.02424 0.462000 0.41574 GTC NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 0 5.115139 KEEP 0 0 0 17 543 GG 0.999366 0.999356 0 + 6 60 195 0 0 12.525716 101 60 3449 145 ENST00000408910.2 0.056075 0.999989 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43549794 43549794 __UNKNOWN__ Intron SNP C C T rs7275646 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43549794C>T ENST00000408910.2 + 21 3690 UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400423.2_Intron|UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.2_Intron NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 NA NA adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 ATTAATTTGACGTTTCTCTTC 0.408 NA c||| 629 0.125599 0.0303 0.1311 5008 , , NA 21593 0.0675 NA 0.3012 False NA ,,, NA NA NA 2504 0.1299 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 C ,,, 250,3486 5,240,1623 38 39 39 ,,, -4.1 0 21 dbSNP_116 39 2515,5699 418,1679,2010 no intron,intron,intron,intron UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 ,,, 423,1919,3633 TT,TC,CC 30.6185,6.6916,23.1381 ,,, ,,, 43549794 2765,9185 1868 4107 5975 SO:0001627 intron_variant CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.3691-29C>T chr21.hg19:g.43549794C>T NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 11.303372 TGAxGTT COVERED NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 3 6.841332 KEEP 0 1 32 34 1159 CC 0.999999 0.999999 0 + 14 60 518 0 0 34.179165 274 60 10015 372 ENST00000408910.2 0.048611 1 UMODL1 89766 __UNKNOWN__ __UNKNOWN__ 21 43557736 43557736 __UNKNOWN__ 3'UTR SNP G G A rs220178 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43557736G>A ENST00000408910.2 + 0 3963 UMODL1_ENST00000408989.2_3'UTR|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_3'UTR|UMODL1_ENST00000400424.2_3'UTR NM_001004416.2 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 NA NA adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338) cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 AATAGGAGGCGCAGGCTGACA 0.572 NA G||| 1465 0.292532 0.0908 0.366 5008 , , NA 14875 0.4762 NA 0.4056 False NA ,,, NA NA NA 2504 0.2076 NA NA NA Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 0 G ,,, 553,3557 31,491,1533 55 58 57 ,,, -0.3 0 21 dbSNP_79 57 3282,5114 638,2006,1554 no utr-3,utr-3,utr-3,utr-3 UMODL1 NM_001004416.2,NM_001199527.1,NM_001199528.2,NM_173568.3 ,,, 669,2497,3087 AA,AG,GG 39.09,13.455,30.6653 ,,, ,,, 43557736 3835,8671 2055 4198 6253 SO:0001624 3_prime_UTR_variant CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1 21q22.3 2008-07-04 ENSG00000177398 ENSG00000177398 89766 12560 protein-coding gene gene with protein product olfactorin 613859 NA 16026467 Standard NM_173568 NA Approved uc002zag.1 Q5DID0 OTTHUMG00000086788 ENST00000408910.2:c.*6G>A chr21.hg19:g.43557736G>A NA C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216 hg19 CCDS42936.1 0.02 12.188309 GGCxCAG COVERED NOVEL UMODL1-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195292.2 2 7.859365 KEEP 0 1 19 33 1140 GG 0.999998 0.999998 0 + 18 60 633 0 0 41.593881 311 60 11212 436 ENST00000408910.2 0.054711 1 ABCG1 9619 __UNKNOWN__ __UNKNOWN__ 21 43697195 43697195 __UNKNOWN__ Intron SNP A A G rs2234718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43697195A>G ENST00000398449.3 + 5 733 ABCG1_ENST00000361802.2_Intron|ABCG1_ENST00000343687.3_Intron|ABCG1_ENST00000347800.2_Intron|ABCG1_ENST00000398457.2_Intron|ABCG1_ENST00000462050.1_Intron|ABCG1_ENST00000398437.1_Intron|ABCG1_ENST00000340588.4_Intron NM_016818.2 NP_058198.2 P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 NA NA amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037) ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TGGGACAGGCAACATTTCAGG 0.527 NA G||| 1368 0.273163 0.3631 0.2896 5008 , , NA 20143 0.2421 NA 0.2416 False NA ,,, NA NA NA 2504 0.2045 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U34919 CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1 21q22.3 2012-03-14 ENSG00000160179 ENSG00000160179 9619 ATP binding cassette transporters / subfamily G 73 protein-coding gene gene with protein product ATP-binding cassette transporter 8 603076 NA 8659545, 16870176 Standard NM_207174 NM_016818 NA Approved ABC8 uc002zaq.3 P45844 OTTHUMG00000086791 ENST00000398449.3:c.588+140A>G chr21.hg19:g.43697195A>G NA Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4 hg19 CCDS42938.1 0.02 1.830327 GGCxACA COVERED NOVEL ABCG1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195313.2 0 4.2119 KEEP 0 0 0 14 409 AA 0.995343 0.993815 0 + 5 60 178 0 0 12.210742 70 60 2503 98 ENST00000398449.3 0.066667 0.998465 TMPRSS3 64699 __UNKNOWN__ __UNKNOWN__ 21 43805637 43805637 __UNKNOWN__ Silent SNP C C T rs2839501 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43805637C>T ENST00000291532.3 - 6 1408 c.453G>A c.(451-453)gtG>gtA p.V151V TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Silent_p.V235V|TMPRSS3_ENST00000398405.1_Silent_p.V149V|TMPRSS3_ENST00000398397.3_Silent_p.V151V|TMPRSS3_ENST00000433957.2_Silent_p.V151V NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 151 SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}. NA cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 TATCTGAACTCACATAGCTGC 0.488 NA T||| 2319 0.463059 0.8896 0.3646 5008 , , NA 21554 0.2758 NA 0.3429 False NA ,,, NA NA NA 2504 0.273 NA NA NA NA 0 T , 3541,865 338.6+/-305.4 1420,701,82 127 131 130 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 453,453 -4.8 0 21 dbSNP_100 130 3127,5473 658.4+/-401.6 579,1969,1752 no coding-synonymous,coding-synonymous TMPRSS3 NM_024022.2,NM_032405.1 , 1999,2670,1834 TT,TC,CC 36.3605,19.6323,48.7314 , 151/455,151/345 43805637 6668,6338 2203 4300 6503 SO:0001819 synonymous_variant AF201380 CCDS13686.1, CCDS42939.1, CCDS58790.1 21q22.3 2010-04-13 ENSG00000160183 ENSG00000160183 64699 Serine peptidases / Transmembrane 11877 protein-coding gene gene with protein product 605511 DFNB10, DFNB8 NA 11462234, 11907649 Standard NM_032405 NA Approved uc002zbc.3 P57727 OTTHUMG00000086796 ENST00000291532.3:c.453G>A chr21.hg19:g.43805637C>T NA D3DSJ6|Q5USC7|Q6ZMC3 hg19 CCDS13686.1 0.02 6.589372 ACTxACA COVERED NOVEL TMPRSS3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000195347.1 1 6.656474 KEEP 0 1 31 33 1177 CC 0.999998 0.999998 0 - 6 60 216 0 0 13.230036 162 60 6258 262 ENST00000291532.3 0.035714 1 TMPRSS3 64699 __UNKNOWN__ __UNKNOWN__ 21 43815876 43815876 __UNKNOWN__ Intron SNP G G A rs225320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43815876G>A ENST00000291532.3 - 1 905 TMPRSS3_ENST00000380399.1_Intron|TMPRSS3_ENST00000398405.1_5'UTR|TMPRSS3_ENST00000398397.3_Intron|TMPRSS3_ENST00000433957.2_Intron NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 NA NA cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025) scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 TGCTTTAGAGGGACTCCCTCT 0.338 NA A||| 2204 0.440096 0.6165 0.3127 5008 , , NA 19741 0.5198 NA 0.2863 False NA ,,, NA NA NA 2504 0.3681 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF201380 CCDS13686.1, CCDS42939.1, CCDS58790.1 21q22.3 2010-04-13 ENSG00000160183 ENSG00000160183 64699 Serine peptidases / Transmembrane 11877 protein-coding gene gene with protein product 605511 DFNB10, DFNB8 NA 11462234, 11907649 Standard NM_032405 NA Approved uc002zbc.3 P57727 OTTHUMG00000086796 ENST00000291532.3:c.50+174C>T chr21.hg19:g.43815876G>A NA D3DSJ6|Q5USC7|Q6ZMC3 hg19 CCDS13686.1 0.02 8.39932 GAGxGAC COVERED NOVEL TMPRSS3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000195347.1 0 6.621716 KEEP 0 0 0 22 785 GG 0.999879 0.999879 0 - 13 60 465 0 0 30.90776 221 60 8062 330 ENST00000291532.3 0.055556 1 UBASH3A 53347 __UNKNOWN__ __UNKNOWN__ 21 43863521 43863521 __UNKNOWN__ Silent SNP A A G rs386818914|rs868092 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43863521A>G ENST00000291535.6 + 12 1664 c.1617A>G c.(1615-1617)ccA>ccG p.P539P UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000319294.6_Silent_p.P577P NM_001001895.2 NP_001001895.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 577 Phosphatase-like. NA negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817) cytosol (GO:0005829)|nucleus (GO:0005634) catalytic activity (GO:0003824) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACACCTGTCCACAGGACAGTA 0.552 NA G||| 3089 0.616813 0.59 0.6556 5008 , , NA 19473 0.5169 NA 0.6879 False NA ,,, NA NA NA 2504 0.6554 NA NA NA NA 0 G , 2768,1638 484.6+/-360.1 858,1052,293 65 47 53 1617,1731 -3.9 0 21 dbSNP_86 53 6298,2302 371.3+/-336.2 2315,1668,317 no coding-synonymous,coding-synonymous UBASH3A NM_001001895.2,NM_018961.3 , 3173,2720,610 GG,GA,AA 26.7674,37.1766,30.2937 , 539/624,577/662 43863521 9066,3940 2203 4300 6503 SO:0001819 synonymous_variant AJ277750 CCDS13687.1, CCDS33566.1, CCDS58791.1 21q22.3 2010-04-28 2010-04-28 ENSG00000160185 ENSG00000160185 53347 12462 protein-coding gene gene with protein product 605736 NA 11281453 Standard NM_001001895 NM_018961 NA Approved STS-2, TULA, CLIP4 uc002zbf.3 P57075 OTTHUMG00000086805 ENST00000291535.6:c.1617A>G chr21.hg19:g.43863521A>G NA G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9 hg19 CCDS33566.1 0.02 6.595135 TCCxCAG COVERED NOVEL UBASH3A-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195383.1 1 4.813773 KEEP 0 0 0 16 479 AA 0.997832 0.997832 0 + 6 60 225 0 0 14.321866 150 60 5308 207 ENST00000291535.6 0.038462 1 RSPH1 89765 __UNKNOWN__ __UNKNOWN__ 21 43905887 43905887 __UNKNOWN__ Silent SNP C C T rs2839536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43905887C>T ENST00000291536.3 - 5 560 c.393G>A c.(391-393)gcG>gcA p.A131A RSPH1_ENST00000398352.3_Silent_p.A93A NM_080860.2 NP_543136.1 Q8WYR4 RSPH1_HUMAN radial spoke head 1 homolog (Chlamydomonas) 131 NA axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126) cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634) large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1) 12 TGCCCGTCTCCGCGTATAAAT 0.517 NA C||| 1399 0.279353 0.0817 0.6182 5008 , , NA 22217 0.1994 NA 0.3728 False NA ,,, NA NA NA 2504 0.2924 NA NA NA Esophageal Squamous(23;63 706 6286 10288 12913) NA 0 C 626,3780 269.5+/-269.1 49,528,1626 162 139 147 393 -9.7 0.6 21 dbSNP_100 147 3379,5221 501.5+/-375.5 680,2019,1601 no coding-synonymous RSPH1 NM_080860.2 729,2547,3227 TT,TC,CC 39.2907,14.2079,30.7935 131/310 43905887 4005,9001 2203 4300 6503 SO:0001819 synonymous_variant AB006536 CCDS13688.1, CCDS68210.1 21q22.3 2014-02-03 2007-06-25 2007-06-25 ENSG00000160188 ENSG00000160188 89765 12371 protein-coding gene gene with protein product meichroacidin 609314 testis specific A2 homolog (mouse) TSGA2 NA 9403069, 9578619, 17451891 Standard XM_005261208 NA Approved FLJ32753, RSP44, RSPH10A, CILD24 uc002zbg.3 Q8WYR4 OTTHUMG00000086804 ENST00000291536.3:c.393G>A chr21.hg19:g.43905887C>T NA A8MWV0|B2RBN9|Q3MJA1 hg19 CCDS13688.1 0.02 4.603036 CTCxGCG COVERED NOVEL RSPH1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195379.1 1 7.222445 KEEP 0 0 0 24 806 CC 0.999909 0.999909 0 - 7 60 265 0 0 17.665234 138 60 4654 195 ENST00000291536.3 0.048276 1 SLC37A1 54020 __UNKNOWN__ __UNKNOWN__ 21 43938673 43938673 __UNKNOWN__ Intron SNP T T C rs4919990 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:43938673T>C ENST00000352133.2 + 2 1038 SLC37A1_ENST00000398341.3_Intron P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 NA NA carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane (GO:0016020) transporter activity (GO:0005215) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 AGGTGAGGGCTACTGTGCAGG 0.498 NA T||| 1384 0.276358 0.0666 0.6182 5008 , , NA 20399 0.2024 NA 0.3728 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 T 169,1215 12,145,535 107 101 103 -7.2 0 21 dbSNP_111 103 1300,1882 251,798,542 no intron SLC37A1 NM_018964.3 263,943,1077 CC,CT,TT 40.8548,12.211,32.1726 43938673 1469,3097 692 1591 2283 SO:0001627 intron_variant AJ269529 CCDS13689.1 21q22.3 2013-07-17 2013-07-17 ENSG00000160190 ENSG00000160190 54020 Solute carriers 11024 protein-coding gene gene with protein product 608094 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 NA 11112347 Standard NM_018964 NA Approved uc002zbi.3 P57057 OTTHUMG00000086803 ENST00000352133.2:c.56+53T>C chr21.hg19:g.43938673T>C NA D3DSJ7|Q9HAQ1 hg19 CCDS13689.1 0.02 7.015133 GGCxACT COVERED NOVEL SLC37A1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195377.1 2 12.295711 KEEP 0 0 0 41 1204 TT 1 1 0 + 7 60 264 0 0 17.163936 158 60 5681 231 ENST00000352133.2 0.042424 1 SLC37A1 54020 __UNKNOWN__ __UNKNOWN__ 21 44000987 44000987 __UNKNOWN__ 3'UTR SNP G G A rs75367787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44000987G>A ENST00000352133.2 + 0 3101 SLC37A1_ENST00000398341.3_3'UTR P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 NA NA carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|membrane (GO:0016020) transporter activity (GO:0005215) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 CAAGAAGGCCGACAACCAGGT 0.547 NA g||| 37 0.00738818 0.0 0.0 5008 , , NA 16424 0.0357 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ269529 CCDS13689.1 21q22.3 2013-07-17 2013-07-17 ENSG00000160190 ENSG00000160190 54020 Solute carriers 11024 protein-coding gene gene with protein product 608094 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 NA 11112347 Standard NM_018964 NA Approved uc002zbi.3 P57057 OTTHUMG00000086803 ENST00000352133.2:c.*517G>A chr21.hg19:g.44000987G>A NA D3DSJ7|Q9HAQ1 hg19 CCDS13689.1 0.02 10.848238 GCCxACA COVERED NOVEL SLC37A1-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195377.1 3 28.455013 KEEP 0 2 64 117 3938 GG 1 1 0 + 11 60 408 0 0 25.843656 273 60 9409 506 ENST00000352133.2 0.038732 1 PDE9A 5152 __UNKNOWN__ __UNKNOWN__ 21 44108228 44108228 __UNKNOWN__ Intron SNP A A G rs13046426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44108228A>G ENST00000335512.4 + 3 283 PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000349112.3_Intron NM_001001567.1 NP_001001567.1 O76083 PDE9A_HUMAN phosphodiesterase 9A NA NA blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165) cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Caffeine(DB00201) AGAGATGGAGAGCGAGGGTAG 0.532 NA G||| 933 0.186302 0.1415 0.1182 5008 , , NA 18841 0.3413 NA 0.173 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF048837 CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1 21q22.3 2005-11-29 ENSG00000160191 ENSG00000160191 5152 3.1.4.17 Phosphodiesterases 8795 protein-coding gene gene with protein product 602973 NA 9624146 Standard NM_001001584 NA Approved uc002zbm.3 O76083 OTTHUMG00000086825 ENST00000335512.4:c.218+124A>G chr21.hg19:g.44108228A>G NA B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0 hg19 CCDS33568.1 0.02 4.843068 GAGxGCG COVERED NOVEL PDE9A-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195458.1 1 5.114815 KEEP 0 0 0 17 516 AA 0.999366 0.999366 0 + 9 60 340 1 0 24.123498 120 60 4428 159 ENST00000335512.4 0.069767 1 PDE9A 5152 __UNKNOWN__ __UNKNOWN__ 21 44108243 44108243 __UNKNOWN__ Intron SNP C C G rs13047947 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44108243C>G ENST00000335512.4 + 3 283 PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000349112.3_Intron NM_001001567.1 NP_001001567.1 O76083 PDE9A_HUMAN phosphodiesterase 9A NA NA blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165) cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Caffeine(DB00201) GGGTAGGAGCCAGTGTGAAGG 0.522 NA G||| 932 0.186102 0.1415 0.1182 5008 , , NA 19484 0.3403 NA 0.173 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF048837 CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1 21q22.3 2005-11-29 ENSG00000160191 ENSG00000160191 5152 3.1.4.17 Phosphodiesterases 8795 protein-coding gene gene with protein product 602973 NA 9624146 Standard NM_001001584 NA Approved uc002zbm.3 O76083 OTTHUMG00000086825 ENST00000335512.4:c.218+139C>G chr21.hg19:g.44108243C>G NA B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0 hg19 CCDS33568.1 0.02 4.692532 AGCxAGT COVERED NOVEL PDE9A-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195458.1 1 3.911207 KEEP 0 0 0 13 432 CC 0.994391 0.994385 0 + 8 60 285 0 0 19.812319 104 60 3933 135 ENST00000335512.4 0.071429 0.999995 PDE9A 5152 __UNKNOWN__ __UNKNOWN__ 21 44117425 44117425 __UNKNOWN__ Intron SNP G G A rs2269143 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44117425G>A ENST00000335512.4 + 4 283 PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398225.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000291539.6_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000349112.3_Intron NM_001001567.1 NP_001001567.1 O76083 PDE9A_HUMAN phosphodiesterase 9A NA NA blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165) cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886) 3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Caffeine(DB00201) GATTTTCCACGTTACCTGTAA 0.433 NA G||| 795 0.158746 0.1044 0.0908 5008 , , NA 21734 0.3373 NA 0.1392 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF048837 CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1 21q22.3 2005-11-29 ENSG00000160191 ENSG00000160191 5152 3.1.4.17 Phosphodiesterases 8795 protein-coding gene gene with protein product 602973 NA 9624146 Standard NM_001001584 NA Approved uc002zbm.3 O76083 OTTHUMG00000086825 ENST00000335512.4:c.219-1653G>A chr21.hg19:g.44117425G>A NA B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0 hg19 CCDS33568.1 0.02 14.217051 CACxTTA COVERED NOVEL PDE9A-008 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195458.1 2 7.492843 KEEP 0 2 63 47 1597 GG 1 1 0 + 15 60 536 0 0 33.009757 384 60 12955 535 ENST00000335512.4 0.037594 1 WDR4 10785 __UNKNOWN__ __UNKNOWN__ 21 44283718 44283718 __UNKNOWN__ Intron SNP G G A rs7279435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44283718G>A ENST00000398208.2 - 4 356 WDR4_ENST00000330317.2_Intron|WDR4_ENST00000492742.1_Intron NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5 NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2 WD repeat domain 4 NA NA haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) TAGAAGGCCAGAAAGACACCC 0.612 NA G||| 882 0.176118 0.1203 0.098 5008 , , NA 17258 0.2599 NA 0.1551 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 G , 488,3918 227.2+/-242.5 28,432,1743 82 74 77 , 1.1 0.1 21 dbSNP_116 77 1106,7494 229.3+/-264.0 74,958,3268 no intron,intron WDR4 NM_018669.4,NM_033661.3 , 102,1390,5011 AA,AG,GG 12.8605,11.0758,12.2559 , , 44283718 1594,11412 2203 4300 6503 SO:0001627 intron_variant AJ243912 CCDS13691.1 21q22.3 2013-01-09 ENSG00000160193 ENSG00000160193 10785 WD repeat domain containing 12756 protein-coding gene gene with protein product TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae) 605924 NA 12403464 Standard NM_018669 NA Approved TRM82, TRMT82 uc002zci.4 P57081 OTTHUMG00000086826 ENST00000398208.2:c.297-12C>T chr21.hg19:g.44283718G>A NA hg19 CCDS13691.1 0.02 3.839563 CCAxAAA COVERED NOVEL WDR4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195479.1 2 18.358618 KEEP 0 0 0 61 2180 GG 1 1 0 - 6 60 211 0 0 13.211887 134 60 5183 265 ENST00000398208.2 0.042857 1 NDUFV3 4731 __UNKNOWN__ __UNKNOWN__ 21 44323461 44323461 __UNKNOWN__ Intron SNP G G A rs4148972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44323461G>A ENST00000340344.4 + 3 235 NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Silent_p.P113P NM_001001503.1 NP_001001503.1 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa NA NA cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739) NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) AAGGGGTTCCGAAATTTTTGT 0.488 NA G||| 495 0.0988419 0.0484 0.0648 5008 , , NA 18172 0.1746 NA 0.0616 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 G , 202,4204 125.7+/-162.9 4,194,2005 123 135 131 ,339 -1 0 21 dbSNP_110 131 547,8053 150.1+/-205.1 17,513,3770 no intron,coding-synonymous NDUFV3 NM_001001503.1,NM_021075.3 , 21,707,5775 AA,AG,GG 6.3605,4.5847,5.7589 , ,113/474 44323461 749,12257 2203 4300 6503 SO:0001627 intron_variant CCDS33572.1, CCDS33573.1 21q22.3 2011-07-04 2002-08-29 ENSG00000160194 ENSG00000160194 4731 1.6.5.3 Mitochondrial respiratory chain complex / Complex I 7719 protein-coding gene gene with protein product complex I 10kDa subunit 602184 NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD) NA 9344673 Standard NM_021075 NA Approved CI-10k uc002zcm.3 P56181 OTTHUMG00000086823 ENST00000340344.4:c.170-5513G>A chr21.hg19:g.44323461G>A NA A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5 hg19 CCDS33573.1 0.02 9.075028 TCCxAAA COVERED NOVEL NDUFV3-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195448.2 0 13.574274 KEEP 0 1 31 56 1865 GG 1 1 0 + 8 60 298 0 0 18.800457 206 60 7296 328 ENST00000340344.4 0.037383 1 PKNOX1 5316 __UNKNOWN__ __UNKNOWN__ 21 44437142 44437142 __UNKNOWN__ Intron SNP A A G rs3737434 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44437142A>G ENST00000291547.5 + 6 833 PKNOX1_ENST00000432907.2_Intron NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 NA NA angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 AAATGGACACACTCTCCATGA 0.458 NA G||| 1958 0.390974 0.2897 0.4352 5008 , , NA 18710 0.5198 NA 0.3559 False NA ,,, NA NA NA 2504 0.3998 NA NA NA NA 0 G 1324,3082 688.4+/-405.0 183,958,1062 34 31 32 -4 0 21 dbSNP_107 32 2847,5753 666.4+/-402.4 466,1915,1919 no intron PKNOX1 NM_004571.3 649,2873,2981 GG,GA,AA 33.1047,30.0499,32.0698 44437142 4171,8835 2203 4300 6503 SO:0001627 intron_variant CCDS13692.1, CCDS68211.1 21q22.3 2011-06-20 ENSG00000160199 ENSG00000160199 5316 Homeoboxes / TALE class 9022 protein-coding gene gene with protein product 602100 NA 9479508 Standard NM_001286258 NA Approved PREP1 uc002zcq.1 P55347 OTTHUMG00000086833 ENST00000291547.5:c.622+25A>G chr21.hg19:g.44437142A>G NA O00528|Q8IWT7 hg19 CCDS13692.1 0.02 9.565769 CACxCTC COVERED NOVEL PKNOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195520.3 2 24.055534 KEEP 0 0 0 80 2344 AA 1 1 0 + 15 60 575 0 0 40.048356 234 60 8173 404 ENST00000291547.5 0.060241 1 PKNOX1 5316 __UNKNOWN__ __UNKNOWN__ 21 44452868 44452868 __UNKNOWN__ 3'UTR SNP C C G rs2839628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44452868C>G ENST00000291547.5 + 0 4179 NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 NA NA angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 TAAATTCTTACTAAATTCAGA 0.418 NA C||| 1545 0.308506 0.0877 0.2709 5008 , , NA 20419 0.5208 NA 0.3469 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13692.1, CCDS68211.1 21q22.3 2011-06-20 ENSG00000160199 ENSG00000160199 5316 Homeoboxes / TALE class 9022 protein-coding gene gene with protein product 602100 NA 9479508 Standard NM_001286258 NA Approved PREP1 uc002zcq.1 P55347 OTTHUMG00000086833 ENST00000291547.5:c.*2657C>G chr21.hg19:g.44452868C>G NA O00528|Q8IWT7 hg19 CCDS13692.1 0.02 7.706069 TTAxTAA COVERED NOVEL PKNOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195520.3 0 11.737734 KEEP 0 0 0 39 1393 CC 1 1 0 + 8 60 319 0 0 21.79548 158 60 5916 242 ENST00000291547.5 0.048193 1 PKNOX1 5316 __UNKNOWN__ __UNKNOWN__ 21 44453022 44453022 __UNKNOWN__ 3'UTR SNP G G A rs2839629 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44453022G>A ENST00000291547.5 + 0 4333 NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 NA NA angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GCATGTTTGAGGTCAGTTGGC 0.438 NA G||| 2756 0.550319 0.6679 0.3833 5008 , , NA 19447 0.6687 NA 0.4553 False NA ,,, NA NA NA 2504 0.4857 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13692.1, CCDS68211.1 21q22.3 2011-06-20 ENSG00000160199 ENSG00000160199 5316 Homeoboxes / TALE class 9022 protein-coding gene gene with protein product 602100 NA 9479508 Standard NM_001286258 NA Approved PREP1 uc002zcq.1 P55347 OTTHUMG00000086833 ENST00000291547.5:c.*2811G>A chr21.hg19:g.44453022G>A NA O00528|Q8IWT7 hg19 CCDS13692.1 0.02 6.071173 TGAxGTC COVERED NOVEL PKNOX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195520.3 3 13.84481 KEEP 0 0 0 46 1633 GG 1 1 0 + 9 60 328 0 0 21.302994 184 60 6934 284 ENST00000291547.5 0.046632 1 CBS 875 __UNKNOWN__ __UNKNOWN__ 21 44475714 44475714 __UNKNOWN__ Intron SNP T T C rs2124459 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44475714T>C ENST00000398165.3 - 16 1812 CBS_ENST00000398168.1_Intron|CBS_ENST00000544202.1_Intron|CBS_ENST00000359624.3_Intron|CBS_ENST00000352178.5_Intron|CBS_ENST00000398158.1_Intron NM_000071.2 NP_000062.1 P35520 CBS_HUMAN cystathionine-beta-synthase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346) cytosol (GO:0005829)|nucleus (GO:0005634) adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8) 17 L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118) CCTTGCATTTTGGGGAAACGG 0.587 NA C||| 2239 0.447085 0.4228 0.2421 5008 , , NA 17951 0.6577 NA 0.4165 False NA ,,, NA NA NA 2504 0.4397 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L14577 CCDS13693.1 21q22.3 2014-09-17 ENSG00000160200 ENSG00000160200 875 4.2.1.22 1550 protein-coding gene gene with protein product 613381 NA 9790750 Standard NM_000071 NM_000071 NA Approved HIP4 uc002zcv.2 P35520 OTTHUMG00000086834 ENST00000398165.3:c.1552+1198A>G chr21.hg19:g.44475714T>C NA B2R993|D3DSK4|Q99425|Q9BWC5 hg19 CCDS13693.1 0.02 7.212985 TTTxGGG COVERED NOVEL CBS-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195525.1 0 10.229705 KEEP 0 0 0 34 1050 TT 0.999998 0.999998 0 - 6 60 229 0 0 14.229684 182 60 6729 287 ENST00000398165.3 0.031915 1 CRYAA 1409 __UNKNOWN__ __UNKNOWN__ 21 44592897 44592897 __UNKNOWN__ 3'UTR SNP C C G rs79614970 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44592897C>G ENST00000291554.2 + 0 1121 CRYAA_ENST00000482775.1_3'UTR NM_000394.2 NP_000385.1 P02489 CRYAA_HUMAN crystallin, alpha A NA NA negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 AATCAATAAACAGCAGGTGAT 0.647 NA G||| 659 0.131589 0.152 0.036 5008 , , NA 14894 0.1994 NA 0.0646 False NA ,,, NA NA NA 2504 0.1708 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13695.1 21q22.3 2011-09-05 ENSG00000160202 ENSG00000160202 1409 Heat shock proteins / HSPB 2388 protein-coding gene gene with protein product 123580 CRYA1 NA Standard XM_005261093 NA Approved HSPB4 uc002zdd.1 P02489 OTTHUMG00000086842 ENST00000291554.2:c.*507C>G chr21.hg19:g.44592897C>G NA Q53X53 hg19 CCDS13695.1 0.02 7.491548 AAAxAGC COVERED NOVEL CRYAA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195562.1 2 16.253295 KEEP 0 0 0 54 1950 CC 1 1 0 + 11 60 428 0 0 30.098709 168 60 6387 293 ENST00000291554.2 0.061453 1 SIK1 150094 __UNKNOWN__ __UNKNOWN__ 21 44835508 44835508 __UNKNOWN__ 3'UTR SNP A A G rs476861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:44835508A>G ENST00000270162.6 - 0 3598 NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 NA NA cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028) cytoplasm (GO:0005737)|nucleus (GO:0005634) 14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 Dabrafenib(DB08912) ACACAAACGTATAGTACAAAA 0.423 NA G||| 4160 0.830671 0.7126 0.9078 5008 , , NA 19359 0.8909 NA 0.8797 False NA ,,, NA NA NA 2504 0.8231 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC038504 CCDS33575.1 21q22.3 2008-12-23 2008-12-23 2008-12-23 ENSG00000142178 ENSG00000142178 150094 11142 protein-coding gene gene with protein product myocardial SNF1-like kinase 605705 SNF1-like kinase SNF1LK NA 7893599 Standard NM_173354 NM_173354 NA Approved msk uc002zdf.2 P57059 OTTHUMG00000086874 ENST00000270162.6:c.*1114T>C chr21.hg19:g.44835508A>G NA A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2 hg19 CCDS33575.1 0.02 4.5029 CGTxTAG COVERED NOVEL SIK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195654.1 0 25.408732 KEEP 0 1 36 97 2949 AA 1 1 0 - 8 60 300 1 0 20.378126 137 60 4898 318 ENST00000270162.6 0.055172 1 CSTB 1476 __UNKNOWN__ __UNKNOWN__ 21 45193316 45193316 __UNKNOWN__ 3'UTR SNP T T G rs62229220 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45193316T>G ENST00000291568.5 - 0 1239 NM_000100.3 NP_000091.1 P04080 CYTB_HUMAN cystatin B (stefin B) NA NA adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730) cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020) lung(1)|prostate(1) 2 STAD - Stomach adenocarcinoma(101;0.168) AGAATCACAGTTGGGAAGGCA 0.448 NA G||| 434 0.0866613 0.0136 0.0677 5008 , , NA 20176 0.0833 NA 0.1014 False NA ,,, NA NA NA 2504 0.1871 NA NA NA Esophageal Squamous(58;831 1093 17019 29789 35147) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L03558 CCDS13701.1 21q22.3 2014-09-17 ENSG00000160213 ENSG00000160213 1476 2482 protein-coding gene gene with protein product 601145 EPM1, STFB NA 8596935 Standard NM_000100 NM_000100 NA Approved CST6, PME uc002zdr.4 P04080 OTTHUMG00000086886 ENST00000291568.5:c.*767A>C chr21.hg19:g.45193316T>G NA hg19 CCDS13701.1 0.02 16.654916 CAGxTGG COVERED NOVEL CSTB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195689.1 0 21.063215 KEEP 0 0 0 70 2226 TT 1 1 0 - 21 60 795 0 0 54.790097 338 60 12013 512 ENST00000291568.5 0.058496 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45209442 45209442 __UNKNOWN__ 5'UTR SNP C C T rs2276244 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45209442C>T ENST00000497547.1 + 0 49 NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GAGGCGGGCGCAGGAGGCGCG 0.746 NA C||| 332 0.0662939 0.0159 0.0259 5008 , , NA 9576 0.0863 NA 0.0467 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.-69C>T chr21.hg19:g.45209442C>T NA A6NIB2 hg19 CCDS42951.1 0.02 3.442162 GCGxAGG COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 15.019885 KEEP 0 1 31 61 2068 CC 1 1 0 + 7 60 197 0 0 11.39428 134 60 4851 250 ENST00000497547.1 0.049645 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45209559 45209559 __UNKNOWN__ Silent SNP C C T rs78489660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45209559C>T ENST00000497547.1 + 1 166 c.49C>T c.(49-51)Ctg>Ttg p.L17L NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 0 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GGCTCAGCGCCTGGCGGGGAA 0.697 NA C||| 331 0.0660942 0.0159 0.0259 5008 , , NA 12101 0.0863 NA 0.0457 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C 90,3924 2,86,1919 10 16 14 49 4.4 0.9 21 dbSNP_131 14 467,7841 14,439,3701 yes coding-synonymous RRP1 NM_003683.5 16,525,5620 TT,TC,CC 5.6211,2.2422,4.5204 17/462 45209559 557,11765 2007 4154 6161 SO:0001819 synonymous_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.49C>T chr21.hg19:g.45209559C>T NA A6NIB2 hg19 CCDS42951.1 0.02 8.819099 CGCxTGG COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 3 57.17368 KEEP 0 0 0 190 6804 CC 1 1 0 + 13 60 466 0 0 30.790418 230 60 8703 584 ENST00000497547.1 0.053498 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45212626 45212626 __UNKNOWN__ Intron SNP T T C rs2073431 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45212626T>C ENST00000497547.1 + 3 391 NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TATGCTCTGCTGTAGTTGGGT 0.488 NA C||| 330 0.0658946 0.0159 0.0259 5008 , , NA 20372 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C 97,4103 3,91,2006 144 138 140 -5.3 0 21 dbSNP_96 140 522,7976 18,486,3745 no intron RRP1 NM_003683.5 21,577,5751 CC,CT,TT 6.1426,2.3095,4.8748 45212626 619,12079 2100 4249 6349 SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.274+16T>C chr21.hg19:g.45212626T>C NA A6NIB2 hg19 CCDS42951.1 0.02 9.544317 TGCxGTA COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 1 21.062998 KEEP 0 0 0 70 2201 TT 1 1 0 + 9 60 342 0 0 21.832614 231 60 8695 410 ENST00000497547.1 0.0375 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45213058 45213058 __UNKNOWN__ Intron SNP T T C rs2070536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45213058T>C ENST00000497547.1 + 4 391 NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) tccagcaagatccagttctgg 0.512 NA C||| 330 0.0658946 0.0159 0.0259 5008 , , NA 18321 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.275-142T>C chr21.hg19:g.45213058T>C NA A6NIB2 hg19 CCDS42951.1 0.02 1.953267 AGAxCCA COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 4.812319 KEEP 0 0 0 16 467 TT 0.997832 0.987397 0 + 4 60 140 0 0 9.499507 57 60 2028 81 ENST00000497547.1 0.065574 0.989542 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45215172 45215172 __UNKNOWN__ Intron SNP C C T rs2838374 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45215172C>T ENST00000497547.1 + 5 539 NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) ACGCTGTTCTCGGGGACCGCA 0.532 NA C||| 331 0.0660942 0.0159 0.0259 5008 , , NA 17580 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 C 105,4083 3,99,1992 60 68 65 -4 0 21 dbSNP_100 65 523,7913 18,487,3713 no intron RRP1 NM_003683.5 21,586,5705 TT,TC,CC 6.1996,2.5072,4.9747 45215172 628,11996 2094 4218 6312 SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.422+41C>T chr21.hg19:g.45215172C>T NA A6NIB2 hg19 CCDS42951.1 0.02 6.176813 TCTxGGG COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 12.938769 KEEP 0 0 0 43 1395 CC 1 1 0 + 7 60 225 0 0 13.260101 174 60 5927 270 ENST00000497547.1 0.038674 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45217450 45217450 __UNKNOWN__ Intron SNP C C T rs112805425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45217450C>T ENST00000497547.1 + 6 669 RRP1_ENST00000471909.1_Intron NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGGGCTCCGACGGGGCGGTGG 0.632 NA C||| 330 0.0658946 0.0159 0.0259 5008 , , NA 18168 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C 104,4026 3,98,1964 60 67 65 -3.5 0 21 dbSNP_132 65 518,7874 18,482,3696 no intron RRP1 NM_003683.5 21,580,5660 TT,TC,CC 6.1725,2.5182,4.9673 45217450 622,11900 2065 4196 6261 SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.552+18C>T chr21.hg19:g.45217450C>T NA A6NIB2 hg19 CCDS42951.1 0.02 9.319602 CGAxGGG COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 20.164177 KEEP 0 0 0 67 2294 CC 1 1 0 + 14 60 522 0 0 35.636894 229 60 8170 364 ENST00000497547.1 0.057613 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45217645 45217645 __UNKNOWN__ Intron SNP G G C rs73379033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45217645G>C ENST00000497547.1 + 7 734 RRP1_ENST00000471909.1_Intron NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GCTGTTGTGGGGGTGCTGCTC 0.632 NA G||| 330 0.0658946 0.0159 0.0259 5008 , , NA 16324 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 G 31,1353 0,31,661 34 31 32 -1.4 0 21 dbSNP_130 32 196,2986 9,178,1404 no intron RRP1 NM_003683.5 9,209,2065 CC,CG,GG 6.1596,2.2399,4.9715 45217645 227,4339 692 1591 2283 SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.617+69G>C chr21.hg19:g.45217645G>C NA A6NIB2 hg19 CCDS42951.1 0.02 4.179247 TGGxGGT COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 3.005977 KEEP 0 0 0 10 322 GG 0.992708 0.992707 0 + 10 60 333 0 0 22.94767 115 60 4175 144 ENST00000497547.1 0.08 0.999999 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45217663 45217663 __UNKNOWN__ Intron SNP G G T rs73224966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45217663G>T ENST00000497547.1 + 7 734 RRP1_ENST00000471909.1_Intron NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CTCCCTCGAGGGATGAATCTG 0.642 NA G||| 313 0.0625 0.003 0.0259 5008 , , NA 16140 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.617+87G>T chr21.hg19:g.45217663G>T NA A6NIB2 hg19 CCDS42951.1 0.02 1.81056 GAGxGAT COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 2.706415 KEEP 0 0 0 9 294 GG 0.99254 0.992503 0 + 7 60 233 0 0 15.651254 93 60 3348 112 ENST00000497547.1 0.07 0.999962 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45217929 45217929 __UNKNOWN__ Silent SNP T T C rs2838379 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45217929T>C ENST00000497547.1 + 8 876 c.759T>C c.(757-759)ggT>ggC p.G253G RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 0 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CCTCTGAGGGTGGTGAGCGTG 0.632 NA C||| 2017 0.402756 0.6104 0.3631 5008 , , NA 17517 0.3204 NA 0.2087 False NA ,,, NA NA NA 2504 0.4346 NA NA NA NA 0 C 2325,1931 671,983,474 62 73 69 759 -8.1 0 21 dbSNP_100 69 2038,6424 267,1504,2460 no coding-synonymous RRP1 NM_003683.5 938,2487,2934 CC,CT,TT 24.0841,45.3712,34.3057 253/462 45217929 4363,8355 2128 4231 6359 SO:0001819 synonymous_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.759T>C chr21.hg19:g.45217929T>C NA A6NIB2 hg19 CCDS42951.1 0.02 7.430298 GGGxGGT COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 12.928661 KEEP 0 0 0 43 1314 TT 1 1 0 + 10 60 354 0 0 23.280506 176 60 6249 294 ENST00000497547.1 0.053763 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45219524 45219524 __UNKNOWN__ Silent SNP T T C rs4566449 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45219524T>C ENST00000497547.1 + 9 1002 c.885T>C c.(883-885)gtT>gtC p.V295V RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 0 NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) GCGGCCCCGTTCTCCAGGTGG 0.642 NA C||| 1747 0.348842 0.4213 0.3415 5008 , , NA 14283 0.3175 NA 0.2078 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 C 1553,2591 300,953,819 48 65 59 885 -3.6 0 21 dbSNP_111 59 1989,6443 252,1485,2479 no coding-synonymous RRP1 NM_003683.5 552,2438,3298 CC,CT,TT 23.5887,37.4759,28.1648 295/462 45219524 3542,9034 2072 4216 6288 SO:0001819 synonymous_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.885T>C chr21.hg19:g.45219524T>C NA A6NIB2 hg19 CCDS42951.1 0.02 -0.368271 CGTxCTC COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 5.115911 KEEP 0 0 0 17 551 TT 0.999366 0.898744 0 + 4 60 149 0 0 11.074138 38 60 1291 77 ENST00000497547.1 0.095238 0.899314 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45219555 45219555 __UNKNOWN__ Intron SNP T T C rs58078050 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45219555T>C ENST00000497547.1 + 9 1008 RRP1_ENST00000471909.1_Intron NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CTCATGGCTGTGCCCTCAGCC 0.642 NA C||| 336 0.0670927 0.0166 0.0288 5008 , , NA 15232 0.0863 NA 0.0477 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 C 96,4068 3,90,1989 41 54 50 -0.2 0 21 dbSNP_129 50 519,7917 17,485,3716 no intron RRP1 NM_003683.5 20,575,5705 CC,CT,TT 6.1522,2.3055,4.881 45219555 615,11985 2082 4218 6300 SO:0001627 intron_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.891+25T>C chr21.hg19:g.45219555T>C NA A6NIB2 hg19 CCDS42951.1 0.02 -0.271943 CTGxGCC COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 0 3.610178 KEEP 0 0 0 12 355 TT 0.993634 0.712749 0 + 4 60 127 0 0 9.433334 27 60 961 47 ENST00000497547.1 0.129032 0.717315 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45224108 45224108 __UNKNOWN__ 3'UTR SNP A A G rs2070540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45224108A>G ENST00000497547.1 + 0 1956 RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CTTTCACAGAACTGCCCAGGT 0.527 NA G||| 336 0.0670927 0.0166 0.0288 5008 , , NA 19295 0.0863 NA 0.0477 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.*453A>G chr21.hg19:g.45224108A>G NA A6NIB2 hg19 CCDS42951.1 0.02 10.069296 AGAxCTG COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 2 9.628599 KEEP 0 0 0 32 993 AA 0.999997 0.999997 0 + 13 60 457 0 0 31.145385 190 60 6709 280 ENST00000497547.1 0.064039 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45224328 45224328 __UNKNOWN__ 3'UTR SNP T T C rs968578 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45224328T>C ENST00000497547.1 + 0 2176 RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGCGCACCTCTTTCCCTCAGC 0.692 NA C||| 1749 0.349241 0.4221 0.3415 5008 , , NA 15645 0.3175 NA 0.2087 False NA ,,, NA NA NA 2504 0.4335 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.*673T>C chr21.hg19:g.45224328T>C NA A6NIB2 hg19 CCDS42951.1 0.02 9.878 CTCxTTC COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 1 8.39297 KEEP 0 2 66 51 1583 TT 1 1 0 + 16 60 582 0 0 41.643187 186 60 6648 298 ENST00000497547.1 0.079208 1 RRP1 8568 __UNKNOWN__ __UNKNOWN__ 21 45224682 45224682 __UNKNOWN__ 3'UTR SNP T T C rs73224973 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45224682T>C ENST00000497547.1 + 0 2530 RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P05386 RLA1_HUMAN ribosomal RNA processing 1 NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925) RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735) central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TGCATCCGGTTCCCCAAAGCC 0.667 NA T||| 330 0.0658946 0.0159 0.0259 5008 , , NA 16428 0.0863 NA 0.0447 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U79775 CCDS42951.1 21q22.3 2013-07-02 2013-07-02 ENSG00000160214 ENSG00000160214 8568 18785 protein-coding gene gene with protein product DNA segment on chromosome 21 (unique) 2056 expressed sequence, Nnp1 homolog, nucleolar protein (Drosophila) 610653 ribosomal RNA processing 1 homolog (S. cerevisiae) NA 10830953, 10341208 Standard NM_003683 NM_003683 NA Approved NNP-1, Nop52, NOP52, RRP1A, D21S2056E uc002zds.2 P56182 OTTHUMG00000086884 ENST00000497547.1:c.*1027T>C chr21.hg19:g.45224682T>C NA A6NIB2 hg19 CCDS42951.1 0.02 12.21996 GGTxCCC COVERED NOVEL RRP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195680.1 1 13.836709 KEEP 0 0 0 46 1416 TT 1 1 0 + 20 60 726 0 0 51.871047 233 60 8143 372 ENST00000497547.1 0.079051 1 AGPAT3 56894 __UNKNOWN__ __UNKNOWN__ 21 45391255 45391255 __UNKNOWN__ Intron SNP G G A rs3737360 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45391255G>A ENST00000398063.2 + 6 1156 AGPAT3_ENST00000327505.2_Intron|AGPAT3_ENST00000398061.1_Intron|AGPAT3_ENST00000398058.1_Intron|AGPAT3_ENST00000546158.1_Intron|AGPAT3_ENST00000291572.8_Intron|AGPAT3_ENST00000479117.1_Intron NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCACCCTCCCGTCTCCTCCCA 0.602 NA G||| 258 0.0515176 0.0295 0.0043 5008 , , NA 16830 0.1081 NA 0.0 False NA ,,, NA NA NA 2504 0.1094 NA NA NA Pancreas(60;623 1650 5574 52796) NA 0 G , 106,4300 83.9+/-122.4 1,104,2098 112 113 113 , 0.7 0 21 dbSNP_107 113 6,8594 5.0+/-18.6 0,6,4294 no intron,intron AGPAT3 NM_001037553.1,NM_020132.4 , 1,110,6392 AA,AG,GG 0.0698,2.4058,0.8611 , , 45391255 112,12894 2203 4300 6503 SO:0001627 intron_variant AF156774 CCDS13703.1 21q22.3 2013-02-05 ENSG00000160216 ENSG00000160216 56894 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 326 protein-coding gene gene with protein product 614794 NA Standard NM_020132 XM_005261159 NA Approved LPAAT-gamma uc002zdw.3 Q9NRZ7 OTTHUMG00000086892 ENST00000398063.2:c.665-14G>A chr21.hg19:g.45391255G>A NA D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6 hg19 CCDS13703.1 0.02 8.123393 CCCxTCT COVERED NOVEL AGPAT3-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195722.1 2 24.077052 KEEP 0 0 0 80 2758 GG 1 1 0 + 7 60 261 0 0 15.671028 236 60 7973 422 ENST00000398063.2 0.028807 1 AGPAT3 56894 __UNKNOWN__ __UNKNOWN__ 21 45403232 45403232 __UNKNOWN__ 3'UTR SNP A A G rs2838463 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45403232A>G ENST00000398063.2 + 0 2582 AGPAT3_ENST00000327505.2_3'UTR|AGPAT3_ENST00000398061.1_3'UTR|AGPAT3_ENST00000398058.1_3'UTR|AGPAT3_ENST00000291572.8_3'UTR NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 NA NA CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GACTGTTAACACTGAGCTCAT 0.502 NA A||| 439 0.0876597 0.1536 0.0159 5008 , , NA 15493 0.1111 NA 0.002 False NA ,,, NA NA NA 2504 0.1135 NA NA NA Pancreas(60;623 1650 5574 52796) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF156774 CCDS13703.1 21q22.3 2013-02-05 ENSG00000160216 ENSG00000160216 56894 2.3.1.51 1-acylglycerol-3-phosphate O-acyltransferases 326 protein-coding gene gene with protein product 614794 NA Standard NM_020132 XM_005261159 NA Approved LPAAT-gamma uc002zdw.3 Q9NRZ7 OTTHUMG00000086892 ENST00000398063.2:c.*959A>G chr21.hg19:g.45403232A>G NA D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6 hg19 CCDS13703.1 0.02 5.783459 AACxCTG COVERED NOVEL AGPAT3-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195722.1 1 8.482706 KEEP 0 1 10 32 1002 AA 0.999998 0.999998 0 + 8 60 273 0 0 17.138085 161 60 5755 226 ENST00000398063.2 0.047337 1 TRAPPC10 7109 __UNKNOWN__ __UNKNOWN__ 21 45482950 45482950 __UNKNOWN__ Intron SNP C C T rs2838479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45482950C>T ENST00000291574.4 + 7 965 NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 NA NA sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) sodium ion transmembrane transporter activity (GO:0015081) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GACTCAGGGACGTGACGTGGT 0.488 NA C||| 688 0.13738 0.2716 0.1095 5008 , , NA 20059 0.1071 NA 0.0139 False NA ,,, NA NA NA 2504 0.1339 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U19252 CCDS13704.1 21q22.3 2008-05-07 2008-05-07 2008-05-07 ENSG00000160218 ENSG00000160218 7109 Trafficking protein particle complex 11868 protein-coding gene gene with protein product trafficking protein particle complex subunit 130, TRAPP 130 kDa subunit 602103 transmembrane protein 1 TMEM1 NA 7633421 Standard NM_003274 NM_003274 NA Approved EHOC-1, TRS130 uc002zea.3 P48553 OTTHUMG00000086894 ENST00000291574.4:c.791-469C>T chr21.hg19:g.45482950C>T NA Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3 hg19 CCDS13704.1 0.02 2.138526 GGAxGTG COVERED NOVEL TRAPPC10-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000195737.1 0 5.718146 KEEP 0 0 0 19 643 CC 0.99986 0.99806 0 + 4 60 154 0 0 10.552239 70 60 2393 114 ENST00000291574.4 0.054054 0.9982 TRAPPC10 7109 __UNKNOWN__ __UNKNOWN__ 21 45523416 45523416 __UNKNOWN__ 3'UTR SNP C C T rs2020943 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45523416C>T ENST00000291574.4 + 0 3959 NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 NA NA sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) sodium ion transmembrane transporter activity (GO:0015081) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AACATGACAACGCCAGGGTGA 0.582 NA C||| 688 0.13738 0.2708 0.1095 5008 , , NA 20372 0.1052 NA 0.0139 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 C 1093,3313 389.1+/-327.2 131,831,1241 42 38 39 -2.4 0 21 dbSNP_94 39 69,8531 40.3+/-97.0 1,67,4232 no utr-3 TRAPPC10 NM_003274.4 132,898,5473 TT,TC,CC 0.8023,24.8071,8.9343 45523416 1162,11844 2203 4300 6503 SO:0001624 3_prime_UTR_variant U19252 CCDS13704.1 21q22.3 2008-05-07 2008-05-07 2008-05-07 ENSG00000160218 ENSG00000160218 7109 Trafficking protein particle complex 11868 protein-coding gene gene with protein product trafficking protein particle complex subunit 130, TRAPP 130 kDa subunit 602103 transmembrane protein 1 TMEM1 NA 7633421 Standard NM_003274 NM_003274 NA Approved EHOC-1, TRS130 uc002zea.3 P48553 OTTHUMG00000086894 ENST00000291574.4:c.*4C>T chr21.hg19:g.45523416C>T NA Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3 hg19 CCDS13704.1 0.02 15.602197 CAAxGCC COVERED NOVEL TRAPPC10-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000195737.1 1 34.006008 KEEP 0 0 0 113 3835 CC 1 1 0 + 11 60 415 0 0 25.474038 343 60 12044 577 ENST00000291574.4 0.031073 1 PWP2 5822 __UNKNOWN__ __UNKNOWN__ 21 45527291 45527291 __UNKNOWN__ 5'UTR SNP G G A rs11550376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45527291G>A ENST00000291576.7 + 0 121 NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871) cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CACGTGCGACGGCCGTGATGA 0.736 NA G||| 619 0.123602 0.0091 0.2061 5008 , , NA 10374 0.1518 NA 0.1958 False NA ,,, NA NA NA 2504 0.1166 NA NA NA NA 0 G 158,4238 2,154,2042 14 19 17 -6.8 0 21 dbSNP_120 17 1620,6950 162,1296,2827 no utr-5 PWP2 NM_005049.2 164,1450,4869 AA,AG,GG 18.9032,3.5942,13.7128 45527291 1778,11188 2198 4285 6483 SO:0001623 5_prime_UTR_variant CCDS33579.1 21q22.3 2013-01-10 2001-11-28 2006-11-24 ENSG00000241945 ENSG00000241945 5822 WD repeat domain containing 9711 protein-coding gene gene with protein product 601475 PWP2 (periodic tryptophan protein, yeast) homolog PWP2H NA 8893822 Standard NM_005049 NM_005049 NA Approved EHOC-17, UTP1 uc002zeb.3 Q15269 OTTHUMG00000086893 ENST00000291576.7:c.-7G>A chr21.hg19:g.45527291G>A NA B2RAG8|Q96A77 hg19 CCDS33579.1 0.02 10.733556 GACxGCC COVERED NOVEL PWP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195736.3 3 58.081435 KEEP 0 0 0 193 6619 GG 1 1 0 + 12 60 409 0 0 25.071409 274 60 9510 668 ENST00000291576.7 0.041958 1 PWP2 5822 __UNKNOWN__ __UNKNOWN__ 21 45550959 45550959 __UNKNOWN__ 3'UTR SNP C C T rs7067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45550959C>T ENST00000291576.7 + 0 3193 NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) NA NA signal transduction (GO:0007165) cytoplasm (GO:0005737)|nucleolus (GO:0005730) poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871) cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TTATTTATATCTTTAACATAA 0.388 NA C||| 2531 0.505391 0.2027 0.6023 5008 , , NA 21960 0.6438 NA 0.7008 False NA ,,, NA NA NA 2504 0.502 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS33579.1 21q22.3 2013-01-10 2001-11-28 2006-11-24 ENSG00000241945 ENSG00000241945 5822 WD repeat domain containing 9711 protein-coding gene gene with protein product 601475 PWP2 (periodic tryptophan protein, yeast) homolog PWP2H NA 8893822 Standard NM_005049 NM_005049 NA Approved EHOC-17, UTP1 uc002zeb.3 Q15269 OTTHUMG00000086893 ENST00000291576.7:c.*306C>T chr21.hg19:g.45550959C>T NA B2RAG8|Q96A77 hg19 CCDS33579.1 0.02 8.750982 TATxTTT COVERED NOVEL PWP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000195736.3 1 15.048441 KEEP 0 0 0 50 1761 CC 1 1 0 + 8 60 292 0 0 17.973945 220 60 8294 313 ENST00000291576.7 0.035088 1 ICOSLG 23308 __UNKNOWN__ __UNKNOWN__ 21 45648880 45648880 __UNKNOWN__ 3'UTR SNP C C T rs55769116 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45648880C>T ENST00000407780.3 - 0 1073 ICOSLG_ENST00000400377.3_3'UTR|ICOSLG_ENST00000400379.3_3'UTR|ICOSLG_ENST00000344330.4_Intron NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand NA NA B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TGGCGTCTCACGGAAGCCCTG 0.622 NA C||| 475 0.0948482 0.0068 0.0922 5008 , , NA 19026 0.1657 NA 0.1143 False NA ,,, NA NA NA 2504 0.1227 NA NA NA NA 0 C 96,4188 2,92,2048 51 58 55 1.8 0 21 dbSNP_129 55 949,7559 50,849,3355 no utr-3 ICOSLG NM_015259.4 52,941,5403 TT,TC,CC 11.1542,2.2409,8.1692 45648880 1045,11747 2142 4254 6396 SO:0001624 3_prime_UTR_variant AB014553 CCDS42952.1, CCDS63377.1, CCDS63379.1 21q22.3 2014-01-30 2005-01-12 ENSG00000160223 ENSG00000160223 23308 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands 17087 protein-coding gene gene with protein product B7-related protein 1, B7 homologue 2, B7 homolog 2 605717 ICOSL NA 9734811, 11007762 Standard NM_015259 NM_001283050 NA Approved KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275 uc002zee.3 O75144 OTTHUMG00000086920 ENST00000407780.3:c.*37G>A chr21.hg19:g.45648880C>T NA A8MUZ1|Q9HD18|Q9NRQ1 hg19 CCDS42952.1 0.02 8.521076 TCAxGGA COVERED NOVEL ICOSLG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000195838.1 0 8.425571 KEEP 0 0 0 28 973 CC 0.999997 0.999997 0 - 11 60 404 0 0 26.205421 232 60 8304 303 ENST00000407780.3 0.045267 1 ICOSLG 23308 __UNKNOWN__ __UNKNOWN__ 21 45649510 45649510 __UNKNOWN__ Intron SNP A A G rs13048869 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45649510A>G ENST00000407780.3 - 6 1026 ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.L442P|ICOSLG_ENST00000344330.4_Intron NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand NA NA B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GACACCCCACAGGGGCTGGGC 0.716 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014553 CCDS42952.1, CCDS63377.1, CCDS63379.1 21q22.3 2014-01-30 2005-01-12 ENSG00000160223 ENSG00000160223 23308 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands 17087 protein-coding gene gene with protein product B7-related protein 1, B7 homologue 2, B7 homolog 2 605717 ICOSL NA 9734811, 11007762 Standard NM_015259 NM_001283050 NA Approved KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275 uc002zee.3 O75144 OTTHUMG00000086920 ENST00000407780.3:c.898+426T>C chr21.hg19:g.45649510A>G NA A8MUZ1|Q9HD18|Q9NRQ1 hg19 CCDS42952.1 0.02 2.324087 CACxGGG COVERED . . . . . . . . . . A 0.046 -1.266305 0.01433 . . ENSG00000160223 ENST00000400379 T 0.02121 4.44 0.436 -0.871 0.10642 . . . . . T 0.02156 0.0067 . . . 0.09310 N 1 . . . . . . T 0.44421 -0.9329 5 0.72032 D 0.01 . . . . rs13048869;rs56727969 . . . P 442 ENSP00000383230:L442P ENSP00000383230:L442P L - 2 0 ICOSLG 44473938 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -1.961000 0.01516 -2.818000 0.00344 -3.342000 0.00043 CTG NOVEL ICOSLG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000195838.1 0 2.275327 KEEP 1 2 70 32 977 AA 0.999998 0.999724 0 - 12 60 387 0 0 29.894241 66 60 2419 172 ENST00000407780.3 0.153846 0.999726 ICOSLG 23308 __UNKNOWN__ __UNKNOWN__ 21 45658474 45658474 __UNKNOWN__ Intron SNP A A G rs56124762 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45658474A>G ENST00000407780.3 - 2 142 ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Intron|ICOSLG_ENST00000344330.4_Intron NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand NA NA B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) receptor binding (GO:0005102) endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GAGGTAGTTAAGCCCATCACA 0.582 NA G||| 921 0.183906 0.0696 0.2853 5008 , , NA 16467 0.1438 NA 0.2763 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB014553 CCDS42952.1, CCDS63377.1, CCDS63379.1 21q22.3 2014-01-30 2005-01-12 ENSG00000160223 ENSG00000160223 23308 CD molecules, Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / C2-set domain containing, Endogenous ligands 17087 protein-coding gene gene with protein product B7-related protein 1, B7 homologue 2, B7 homolog 2 605717 ICOSL NA 9734811, 11007762 Standard NM_015259 NM_001283050 NA Approved KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275 uc002zee.3 O75144 OTTHUMG00000086920 ENST00000407780.3:c.15-103T>C chr21.hg19:g.45658474A>G NA A8MUZ1|Q9HD18|Q9NRQ1 hg19 CCDS42952.1 0.02 -0.421111 TTAxGCC COVERED NOVEL ICOSLG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000195838.1 0 4.211028 KEEP 0 0 0 14 410 AA 0.995343 0.943985 0 - 7 60 252 0 0 19.881147 41 60 1505 72 ENST00000407780.3 0.145833 0.948402 TRPM2 7226 __UNKNOWN__ __UNKNOWN__ 21 45824655 45824655 __UNKNOWN__ Intron SNP A A T rs111605999 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45824655A>T ENST00000397932.2 + 17 2551 TRPM2_ENST00000397928.1_Intron|TRPM2_ENST00000498430.1_Intron|TRPM2_ENST00000300482.5_Intron|TRPM2_ENST00000300481.9_Intron O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 tgatAGTGACAGTGACTGTGA 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB001535 CCDS13710.1 21q22.3 2011-12-14 2002-01-18 ENSG00000142185 ENSG00000142185 7226 Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing 12339 protein-coding gene gene with protein product 603749 TRPC7 NA 9806837, 11385575, 16382100 Standard NM_003307 NR_038257 NA Approved KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1 uc002zew.1 O94759 OTTHUMG00000040840 ENST00000397932.2:c.2539-370A>T chr21.hg19:g.45824655A>T NA D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93 hg19 0.02 2.120834 GACxGTG COVERED NOVEL TRPM2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339787.1 3 4.512037 KEEP 16 0 0 15 463 AA 0.99254 0.991245 0 + 11 35 397 0 0 31.441235 63 60 2349 127 ENST00000397932.2 0.148649 0.998696 TRPM2 7226 __UNKNOWN__ __UNKNOWN__ 21 45824660 45824660 __UNKNOWN__ Intron SNP C C T rs111420693 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45824660C>T ENST00000397932.2 + 17 2551 TRPM2_ENST00000397928.1_Intron|TRPM2_ENST00000498430.1_Intron|TRPM2_ENST00000300482.5_Intron|TRPM2_ENST00000300481.9_Intron O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GTGACAGTGACTGTGATGATA 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB001535 CCDS13710.1 21q22.3 2011-12-14 2002-01-18 ENSG00000142185 ENSG00000142185 7226 Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing 12339 protein-coding gene gene with protein product 603749 TRPC7 NA 9806837, 11385575, 16382100 Standard NM_003307 NR_038257 NA Approved KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1 uc002zew.1 O94759 OTTHUMG00000040840 ENST00000397932.2:c.2539-365C>T chr21.hg19:g.45824660C>T NA D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93 hg19 0.02 2.311822 TGAxTGT COVERED NOVEL TRPM2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339787.1 2 4.514416 KEEP 16 0 0 15 521 CC 0.99254 0.991416 0 + 14 35 506 0 0 41.602511 61 60 2261 130 ENST00000397932.2 0.186667 0.998867 TRPM2 7226 __UNKNOWN__ __UNKNOWN__ 21 45824745 45824745 __UNKNOWN__ Intron SNP A A T rs147078462 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45824745A>T ENST00000397932.2 + 17 2551 TRPM2_ENST00000397928.1_Intron|TRPM2_ENST00000498430.1_Intron|TRPM2_ENST00000300482.5_Intron|TRPM2_ENST00000300481.9_Intron O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 tgatagtgacagtgactgtga 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB001535 CCDS13710.1 21q22.3 2011-12-14 2002-01-18 ENSG00000142185 ENSG00000142185 7226 Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing 12339 protein-coding gene gene with protein product 603749 TRPC7 NA 9806837, 11385575, 16382100 Standard NM_003307 NR_038257 NA Approved KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1 uc002zew.1 O94759 OTTHUMG00000040840 ENST00000397932.2:c.2539-280A>T chr21.hg19:g.45824745A>T NA D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93 hg19 0.02 4.871677 GACxGTG UNCOVERED NOVEL TRPM2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339787.1 2 2.407511 KEEP 7 0 0 8 258 AA 0 0 0 + 15 36 553 0 0 44.033711 86 55 3122 130 ENST00000397932.2 0.148515 0.999978 TRPM2 7226 __UNKNOWN__ __UNKNOWN__ 21 45824750 45824750 __UNKNOWN__ Intron SNP C C T rs138374013 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45824750C>T ENST00000397932.2 + 17 2551 TRPM2_ENST00000397928.1_Intron|TRPM2_ENST00000498430.1_Intron|TRPM2_ENST00000300482.5_Intron|TRPM2_ENST00000300481.9_Intron O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 NA NA calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 gtgacagtgactgtgatgata 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB001535 CCDS13710.1 21q22.3 2011-12-14 2002-01-18 ENSG00000142185 ENSG00000142185 7226 Voltage-gated ion channels / Transient receptor potential cation channels, Nudix motif containing 12339 protein-coding gene gene with protein product 603749 TRPC7 NA 9806837, 11385575, 16382100 Standard NM_003307 NR_038257 NA Approved KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1 uc002zew.1 O94759 OTTHUMG00000040840 ENST00000397932.2:c.2539-275C>T chr21.hg19:g.45824750C>T NA D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93 hg19 0.02 1.810601 TGAxTGT UNCOVERED NOVEL TRPM2-007 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000339787.1 2 2.407793 KEEP 7 0 0 8 281 CC 0 0 0 + 14 36 498 0 0 39.028523 84 55 3114 127 ENST00000397932.2 0.142857 0.999962 LRRC3 81543 __UNKNOWN__ __UNKNOWN__ 21 45878247 45878247 __UNKNOWN__ 3'UTR SNP A A G rs9982752 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45878247A>G ENST00000291592.4 + 0 2037 NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) gggtttcaccatgttggccag 0.572 NA A||| 3679 0.734625 0.5439 0.7723 5008 , , NA 14944 0.8363 NA 0.839 False NA ,,, NA NA NA 2504 0.7536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058646 CCDS13711.1 21q22.3 2011-12-07 2002-06-20 ENSG00000160233 ENSG00000160233 81543 14965 protein-coding gene gene with protein product chromosome 21 open reading frame 102 C21orf102 NA 12036297 Standard NM_030891 NA Approved uc002zfa.3 Q9BY71 OTTHUMG00000040847 ENST00000291592.4:c.*946A>G chr21.hg19:g.45878247A>G NA Q0VDJ2 hg19 CCDS13711.1 0.02 2.042264 ACCxTGT COVERED NOVEL LRRC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098095.3 1 3.00911 KEEP 0 0 0 10 313 AA 0.992708 0.96037 0 + 9 60 264 0 0 20.445596 42 60 1545 67 ENST00000291592.4 0.176471 0.967425 LRRC3 81543 __UNKNOWN__ __UNKNOWN__ 21 45878637 45878637 __UNKNOWN__ 3'UTR SNP A A G rs3804034 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45878637A>G ENST00000291592.4 + 0 2427 NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) aagtactttgagtattttTGG 0.338 NA A||| 3770 0.752796 0.6082 0.7795 5008 , , NA 18317 0.8363 NA 0.839 False NA ,,, NA NA NA 2504 0.7546 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB058646 CCDS13711.1 21q22.3 2011-12-07 2002-06-20 ENSG00000160233 ENSG00000160233 81543 14965 protein-coding gene gene with protein product chromosome 21 open reading frame 102 C21orf102 NA 12036297 Standard NM_030891 NA Approved uc002zfa.3 Q9BY71 OTTHUMG00000040847 ENST00000291592.4:c.*1336A>G chr21.hg19:g.45878637A>G NA Q0VDJ2 hg19 CCDS13711.1 0.02 6.586827 TTGxGTA COVERED NOVEL LRRC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000098095.3 0 8.124315 KEEP 0 0 0 27 847 AA 0.999988 0.999988 0 + 7 60 255 0 0 16.418415 150 60 5471 224 ENST00000291592.4 0.044586 1 TSPEAR 54084 __UNKNOWN__ __UNKNOWN__ 21 45959097 45959097 __UNKNOWN__ Intron SNP A A C rs233315 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45959097A>C ENST00000397916.1 - 3 258 KRTAP10-1_ENST00000400375.1_3'UTR|TSPEAR_ENST00000323084.4_Intron Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats NA NA sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TAGGTGGGGGAAGCCACCTAA 0.682 NA C||| 3060 0.611022 0.7095 0.5965 5008 , , NA 14939 0.494 NA 0.6581 False NA ,,, NA NA NA 2504 0.5603 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084 1268 protein-coding gene gene with protein product 612920 chromosome 21 open reading frame 29, deafness, autosomal recessive 98 C21orf29, DFNB98 NA 12095917, 22678063 Standard NM_144991 NM_144991 NA Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.100-5291T>G chr21.hg19:g.45959097A>C NA hg19 0.02 4.668911 GGGxAGC COVERED NOVEL TSPEAR-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000195865.1 1 5.715577 KEEP 0 0 0 19 559 AA 0.99986 0.99986 0 - 12 60 460 0 0 33.610687 137 60 4822 201 ENST00000397916.1 0.080537 1 TSPEAR 54084 __UNKNOWN__ __UNKNOWN__ 21 45959195 45959195 __UNKNOWN__ Intron SNP G G A rs233316 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45959195G>A ENST00000397916.1 - 3 258 KRTAP10-1_ENST00000400375.1_Missense_Mutation_p.P280L|TSPEAR_ENST00000323084.4_Intron Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats NA NA sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 TCAGCAGGCCGGGCGGGAGCA 0.721 NA G||| 3114 0.621805 0.7519 0.6081 5008 , , NA 14955 0.4861 NA 0.6531 False NA ,,, NA NA NA 2504 0.5634 NA NA NA NA 0 G LEU/PRO, 3137,1143 1169,799,172 16 21 19 839, -1.1 0 21 dbSNP_79 19 5643,2789 1911,1821,484 no missense,intron TSPEAR,KRTAP10-1 NM_198691.2,NM_144991.2 98, 3080,2620,656 AA,AG,GG 33.0764,26.7056,30.9314 probably-damaging, 280/283, 45959195 8780,3932 2140 4216 6356 SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084 1268 protein-coding gene gene with protein product 612920 chromosome 21 open reading frame 29, deafness, autosomal recessive 98 C21orf29, DFNB98 NA 12095917, 22678063 Standard NM_144991 NM_144991 NA Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.100-5389C>T chr21.hg19:g.45959195G>A NA hg19 0.02 1.91914 GCCxGGC COVERED 1309 0.5993589743589743 333 0.676829268292683 238 0.6574585635359116 276 0.4825174825174825 462 0.6094986807387863 a 0.384 -0.927214 0.02377 0.732944 0.669236 ENSG00000215455 ENST00000400375 T 0.00816 5.66 3.28 -1.15 0.09709 . . . . . T 0.00012 0.0000 L 0.42581 1.335 0.80722 P 0.0 D 0.54047 0.964 B 0.42522 0.39 T 0.02901 -1.1096 8 0.33141 T 0.24 . 4.1151 0.10077 0.2988:0.0:0.5346:0.1666 rs233316 280 P60331 KR101_HUMAN L 280 ENSP00000383226:P280L ENSP00000383226:P280L P - 2 0 KRTAP10-1 44783623 0.001000 0.12720 0.000000 0.03702 0.056000 0.15407 -0.233000 0.09041 -0.403000 0.07622 -0.186000 0.12905 CCG NOVEL TSPEAR-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000195865.1 1 6.003625 KEEP 0 0 0 20 674 GG 0.999863 0.999819 0 - 6 60 216 0 0 14.663773 92 60 3228 141 ENST00000397916.1 0.061224 0.999956 TSPEAR 54084 __UNKNOWN__ __UNKNOWN__ 21 45959733 45959733 __UNKNOWN__ Intron SNP C C T rs233319 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45959733C>T ENST00000397916.1 - 3 258 KRTAP10-1_ENST00000400375.1_Missense_Mutation_p.V101M|TSPEAR_ENST00000323084.4_Intron Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats NA NA sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 cagacgggcacgcagcaggcc 0.647 NA C||| 2978 0.594649 0.6815 0.5807 5008 , , NA 20018 0.4831 NA 0.6362 False NA ,,, NA NA NA 2504 0.5593 NA NA NA NA 0 42 48 46 NA NA 21 NA 45959733 2193 4284 6477 SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084 1268 protein-coding gene gene with protein product 612920 chromosome 21 open reading frame 29, deafness, autosomal recessive 98 C21orf29, DFNB98 NA 12095917, 22678063 Standard NM_144991 NM_144991 NA Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.100-5927G>A chr21.hg19:g.45959733C>T NA hg19 0.02 3.886442 GCAxGCA COVERED 1323 0.6057692307692307 318 0.6463414634146342 242 0.6685082872928176 282 0.493006993006993 481 0.6345646437994723 c 0.759 -0.770030 0.02974 . . ENSG00000215455 ENST00000400375;ENST00000545982 T 0.00922 5.54 3.46 3.46 0.39613 . . . . . T 0.00012 0.0000 M 0.75777 2.31 0.80722 P 0.0 D 0.71674 0.998 D 0.64144 0.922 T 0.01062 -1.1464 8 0.49607 T 0.09 . 14.0068 0.64468 0.0:1.0:0.0:0.0 rs233319 101 P60331 KR101_HUMAN M 101 ENSP00000383226:V101M ENSP00000383226:V101M V - 1 0 KRTAP10-1 44784161 0.000000 0.05858 0.036000 0.18154 0.020000 0.10135 0.530000 0.23036 1.946000 0.56461 0.491000 0.48974 GTG NOVEL TSPEAR-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000195865.1 1 6.621096 KEEP 6 0 0 22 762 CC 0.99986 0.99986 0 - 11 60 405 0 0 28.773456 136 60 4572 206 ENST00000397916.1 0.07483 1 TSPEAR 54084 __UNKNOWN__ __UNKNOWN__ 21 45959918 45959918 __UNKNOWN__ Intron SNP G G A rs233320 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45959918G>A ENST00000397916.1 - 3 258 KRTAP10-1_ENST00000400375.1_Missense_Mutation_p.P39L|TSPEAR_ENST00000323084.4_Intron Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats NA NA sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GCAGGGGGCCGGGGCGCAGCA 0.697 NA G||| 3054 0.609824 0.7428 0.5821 5008 , , NA 17879 0.4861 NA 0.6402 False NA ,,, NA NA NA 2504 0.546 NA NA NA NA 0 G ,LEU/PRO 3222,1180 647.5+/-398.6 1191,840,170 47 57 54 ,116 3 0.4 21 dbSNP_79 54 5694,2874 648.5+/-400.5 1893,1908,483 no intron,missense TSPEAR,KRTAP10-1 NM_144991.2,NM_198691.2 ,98 3084,2748,653 AA,AG,GG 33.5434,26.806,31.2567 ,probably-damaging ,39/283 45959918 8916,4054 2201 4284 6485 SO:0001627 intron_variant AJ487962 CCDS13712.1, CCDS74801.1 21q22.3 2012-10-30 2011-01-25 2011-01-25 ENSG00000175894 ENSG00000175894 54084 1268 protein-coding gene gene with protein product 612920 chromosome 21 open reading frame 29, deafness, autosomal recessive 98 C21orf29, DFNB98 NA 12095917, 22678063 Standard NM_144991 NM_144991 NA Approved MGC11251, TSP-EAR uc002zfe.1 Q8WU66 OTTHUMG00000041215 ENST00000397916.1:c.100-6112C>T chr21.hg19:g.45959918G>A NA hg19 0.02 1.891787 GCCxGGG COVERED 1373 0.6286630036630036 359 0.7296747967479674 246 0.6795580110497238 285 0.4982517482517482 483 0.637203166226913 g 11.20 1.569235 0.28003 0.73194 0.664566 ENSG00000215455 ENST00000400375;ENST00000545982 T 0.09350 2.99 3.03 3.03 0.35002 . . . . . T 0.00012 0.0000 M 0.80746 2.51 0.39225 P 0.03642299999999998 D 0.89917 1.0 D 0.81914 0.995 T 0.08680 -1.0710 8 0.56958 D 0.05 . 9.6553 0.39921 0.0:0.0:1.0:0.0 rs233320 39 P60331 KR101_HUMAN L 39 ENSP00000383226:P39L ENSP00000383226:P39L P - 2 0 KRTAP10-1 44784346 0.783000 0.28701 0.418000 0.26571 0.556000 0.35491 2.860000 0.48372 1.697000 0.51169 0.491000 0.48974 CCG NOVEL TSPEAR-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000195865.1 1 2.708308 KEEP 0 0 0 9 288 GG 0.99254 0.988259 0 - 4 60 136 0 0 8.907168 64 60 2179 82 ENST00000397916.1 0.058824 0.995687 KRTAP10-4 386672 __UNKNOWN__ __UNKNOWN__ 21 45994488 45994488 __UNKNOWN__ Missense_Mutation SNP G G T rs396912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45994488G>T ENST00000400374.3 + 1 883 c.853G>T c.(853-855)Ggc>Tgc p.G285C TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 285 36 X 5 AA repeats of C-C-X(3). NA G -> C (in dbSNP:rs396912). keratin filament (GO:0045095) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CAAGCCTGTCGGCTCTGTGCC 0.642 NA .||| 931 0.185903 0.3812 0.0937 5008 , , NA 22814 0.2054 NA 0.0368 False NA ,,, NA NA NA 2504 0.1207 NA NA NA NA 0 T ,CYS/GLY 1527,2879 669.8+/-402.2 259,1009,935 115 120 118 ,853 1.9 0 21 dbSNP_80 118 266,8334 803.6+/-407.3 4,258,4038 no intron,missense TSPEAR,KRTAP10-4 NM_144991.2,NM_198687.1 ,159 263,1267,4973 TT,TG,GG 3.093,34.6573,13.7859 ,benign ,285/402 45994488 1793,11213 2203 4300 6503 SO:0001583 missense AB076351 CCDS42957.1 21q22.3 2006-03-13 2004-07-12 2004-07-14 ENSG00000215454 ENSG00000215454 386672 Keratin associated proteins 20521 protein-coding gene gene with protein product keratin associated protein 18-4 KRTAP18-4 NA Standard NM_198687 NM_198687 NA Approved KRTAP18.4, KAP10.4 uc002zfk.1 P60372 OTTHUMG00000057641 ENST00000400374.3:c.853G>T chr21.hg19:g.45994488G>T ENSP00000383225:p.Gly285Cys NA Q08AS0 hg19 CCDS42957.1 0.02 5.927469 GTCxGCT COVERED 365|365 0.1671245421245421|0.1671245421245421 181|181 0.3678861788617886|0.3678861788617886 33|33 0.09116022099447514|0.09116022099447514 130|130 0.22727272727272727|0.22727272727272727 21|21 0.027704485488126648|0.027704485488126648 T|t 0.403|0.403 -0.917088|-0.917088 0.02415|0.02415 0.346573|0.346573 0.03093|0.03093 ENSG00000215454|ENSG00000215454 ENST00000334871|ENST00000400374 .|T .|0.00686 .|5.85 4.38|4.38 1.89|1.89 0.25635|0.25635 .|. .|. .|. .|. .|. .|T .|0.00012 .|0.0000 N|N 0.00019|0.00019 -2.79|-2.79 0.80722|0.80722 P|P 0.0|0.0 .|B .|0.02656 .|0.0 .|B .|0.01281 .|0.0 .|T .|0.41698 .|-0.9494 .|8 .|0.02654 .|T .|1 .|. 1.2795|1.2795 0.02037|0.02037 0.299:0.0913:0.154:0.4556|0.299:0.0913:0.154:0.4556 rs396912;rs396912|rs396912;rs396912 .|285 .|P60372 .|KR104_HUMAN .|C -1|285 .|ENSP00000383225:G285C .|ENSP00000383225:G285C .|G +|+ .|1 .|0 KRTAP10-4|KRTAP10-4 44818916|44818916 0.040000|0.040000 0.19996|0.19996 0.000000|0.000000 0.03702|0.03702 0.023000|0.023000 0.10783|0.10783 -0.499000|-0.499000 0.06413|0.06413 0.160000|0.160000 0.19432|0.19432 -0.320000|-0.320000 0.08662|0.08662 .|GGC NOVEL KRTAP10-4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128045.1 1 4.51429 KEEP 0 0 0 15 513 GG 0.99649 0.99649 0 + 9 60 324 0 0 20.803308 189 60 6404 249 ENST00000400374.3 0.045455 1 KRTAP10-4 386672 __UNKNOWN__ __UNKNOWN__ 21 45994843 45994843 __UNKNOWN__ 3'UTR SNP G G C rs12626886 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45994843G>C ENST00000400374.3 + 0 1238 TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 NA NA keratin filament (GO:0045095) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CTCCTCTGACGCCCCGTGTGC 0.711 NA .||| 581 0.116014 0.0098 0.1311 5008 , , NA 15546 0.3085 NA 0.0895 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 G , 80,4302 1,78,2112 30 37 35 , 2.6 0.9 21 dbSNP_120 35 569,7977 18,533,3722 no intron,utr-3 TSPEAR,KRTAP10-4 NM_144991.2,NM_198687.1 , 19,611,5834 CC,CG,GG 6.6581,1.8257,5.0201 , , 45994843 649,12279 2191 4273 6464 SO:0001624 3_prime_UTR_variant AB076351 CCDS42957.1 21q22.3 2006-03-13 2004-07-12 2004-07-14 ENSG00000215454 ENSG00000215454 386672 Keratin associated proteins 20521 protein-coding gene gene with protein product keratin associated protein 18-4 KRTAP18-4 NA Standard NM_198687 NM_198687 NA Approved KRTAP18.4, KAP10.4 uc002zfk.1 P60372 OTTHUMG00000057641 ENST00000400374.3:c.*2G>C chr21.hg19:g.45994843G>C NA Q08AS0 hg19 CCDS42957.1 0.02 2.264201 GACxCCC COVERED NOVEL KRTAP10-4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128045.1 2 3.310604 KEEP 0 0 0 11 377 GG 0.993072 0.99298 0 + 4 60 143 0 0 9.032937 90 60 3039 128 ENST00000400374.3 0.042553 0.999907 KRTAP10-5 386680 __UNKNOWN__ __UNKNOWN__ 21 45999908 45999908 __UNKNOWN__ Missense_Mutation SNP A A C rs380585 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:45999908A>C ENST00000400372.1 - 1 573 c.548T>G c.(547-549)tTc>tGc p.F183C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 183 22 X 5 AA repeats of C-C-X(3). NA F -> C (in dbSNP:rs380585). keratin filament (GO:0045095) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GATGGGTTTGAAGCAGACAGG 0.602 NA .||| 730 0.145767 0.2489 0.0692 5008 , , NA 22219 0.1964 NA 0.0378 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 C ,CYS/PHE 944,3462 734.8+/-410.6 116,712,1375 190 196 194 ,548 0.9 0.1 21 dbSNP_80 194 264,8336 806.2+/-407.2 4,256,4040 no intron,missense TSPEAR,KRTAP10-5 NM_144991.2,NM_198694.2 ,205 120,968,5415 CC,CA,AA 3.0698,21.4253,9.288 ,benign ,183/272 45999908 1208,11798 2203 4300 6503 SO:0001583 missense AJ566384 CCDS42958.1 21q22.3 2007-10-05 ENSG00000241123 ENSG00000241123 386680 Keratin associated proteins 22969 protein-coding gene gene with protein product KRTAP18-5 NA Standard NM_198694 NA Approved KAP10.5, KAP18.5 uc002zfl.1 P60370 OTTHUMG00000057638 ENST00000400372.1:c.548T>G chr21.hg19:g.45999908A>C ENSP00000383223:p.Phe183Cys NA Q0VAR7|Q0VAR8|Q70LJ3 hg19 CCDS42958.1 0.02 10.802828 TTGxAGC COVERED 286 0.13095238095238096 119 0.241869918699187 27 0.07458563535911603 119 0.20804195804195805 21 0.027704485488126648 c 0.001 -3.150025 0.00029 0.214253 0.030698 ENSG00000241123 ENST00000400372 T 0.00768 5.72 2.89 0.948 0.19561 . . . . . T 0.00012 0.0000 N 0.00016 -2.86 0.53005 P 3.100000000000325E-5 B 0.12013 0.005 B 0.01281 0.0 T 0.39961 -0.9588 8 0.02654 T 1 . 2.2902 0.04136 0.1834:0.3404:0.3598:0.1164 rs380585 183 P60370 KR105_HUMAN C 183 ENSP00000383223:F183C ENSP00000383223:F183C F - 2 0 KRTAP10-5 44824336 0.053000 0.20554 0.129000 0.21949 0.017000 0.09413 -0.206000 0.09398 -0.183000 0.10585 -0.677000 0.03784 TTC NOVEL KRTAP10-5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128042.1 5 9.929993 KEEP 0 0 0 33 1047 AA 0.999998 0.999998 0 - 10 60 364 0 0 22.85792 245 60 8883 342 ENST00000400372.1 0.039216 1 KRTAP10-6 386674 __UNKNOWN__ __UNKNOWN__ 21 46011687 46011687 __UNKNOWN__ Missense_Mutation SNP C C T rs58757665 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46011687C>T ENST00000400368.1 - 1 699 c.679G>A c.(679-681)Gcc>Acc p.A227T TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 227 29 X 5 AA repeats of C-C-X(3). NA keratin filament (GO:0045095) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 ACGCAGCAGGCCTGCTGGCAG 0.652 NA .||| 697 0.139177 0.2201 0.0591 5008 , , NA 23884 0.1776 NA 0.0368 False NA ,,, NA NA NA 2504 0.1524 NA NA NA NA 0 C ,THR/ALA 758,3648 299.8+/-286.0 80,598,1525 113 129 123 ,679 -5.2 0 21 dbSNP_129 123 238,8362 96.1+/-157.9 2,234,4064 no intron,missense TSPEAR,KRTAP10-6 NM_144991.2,NM_198688.2 ,58 82,832,5589 TT,TC,CC 2.7674,17.2038,7.658 ,benign ,227/366 46011687 996,12010 2203 4300 6503 SO:0001583 missense AB076353 CCDS42959.1 21q22.3 2006-03-13 2004-07-12 2004-07-14 ENSG00000188155 ENSG00000188155 386674 Keratin associated proteins 20523 protein-coding gene gene with protein product keratin associated protein 18-6 KRTAP18-6 NA Standard NM_198688 NM_198688 NA Approved KRTAP18.6, KAP18.6, KAP10.6 uc002zfm.3 P60371 OTTHUMG00000057634 ENST00000400368.1:c.679G>A chr21.hg19:g.46011687C>T ENSP00000383219:p.Ala227Thr NA hg19 CCDS42959.1 0.02 7.379602 AGGxCTG COVERED 242 0.1108058608058608 97 0.19715447154471544 18 0.049723756906077346 107 0.18706293706293706 20 0.026385224274406333 c 6.310 0.425231 0.11987 0.172038 0.027674 ENSG00000188155 ENST00000400368 T 0.01295 5.04 2.61 -5.22 0.02806 . . . . . T 0.00012 0.0000 L 0.48260 1.515 0.80722 P 0.0 B 0.02656 0.0 B 0.06405 0.002 T 0.44982 -0.9292 8 0.34782 T 0.22 . 1.4029 0.02274 0.1624:0.3946:0.1317:0.3113 rs58757665 227 P60371 KR106_HUMAN T 227 ENSP00000383219:A227T ENSP00000383219:A227T A - 1 0 KRTAP10-6 44836115 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -8.213000 0.00023 -1.548000 0.01712 -2.987000 0.00079 GCC NOVEL KRTAP10-6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128037.1 4 8.98162 KEEP 0 0 0 30 1013 CC 0.999997 0.999997 0 - 8 60 265 0 0 15.510066 206 60 7434 299 ENST00000400368.1 0.037383 1 KRTAP10-7 386675 __UNKNOWN__ __UNKNOWN__ 21 46021722 46021722 __UNKNOWN__ 3'UTR SNP G G A rs12627104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46021722G>A ENST00000380102.2 + 0 1226 TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 NA NA keratin filament (GO:0045095) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 TACCCTTGACGGCTCTCCACA 0.562 NA -||| 1070 0.213658 0.4856 0.0749 5008 , , NA 18175 0.1677 NA 0.0447 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ566385 CCDS74803.1 21q22.3 2014-04-10 ENSG00000205441 ENSG00000272804 386675 Keratin associated proteins 22970 protein-coding gene gene with protein product KRTAP18-7 NA Standard NM_198689 NM_198689 NA Approved KAP10.7, KAP18.7 uc002zfn.4 P60409 OTTHUMG00000188307 ENST00000380102.2:c.*73G>A chr21.hg19:g.46021722G>A NA Q0VDJ8|Q70LJ2 hg19 0.02 17.785329 GACxGCT COVERED NOVEL KRTAP10-7-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000128038.1 3 12.639217 KEEP 0 0 0 42 1457 GG 1 1 0 + 15 60 551 0 0 34.134383 408 60 14578 578 ENST00000380102.2 0.035461 1 KRTAP10-9 386676 __UNKNOWN__ __UNKNOWN__ 21 46047322 46047322 __UNKNOWN__ Silent SNP G G A rs62220925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46047322G>A ENST00000397911.3 + 1 283 c.234G>A c.(232-234)tcG>tcA p.S78S KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 78 25 X 5 AA repeats of C-C-X(3). NA keratin filament (GO:0045095) endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GCACGCCCTCGTGCTGCCAGC 0.677 NA G||| 719 0.14357 0.3495 0.0706 5008 , , NA 18721 0.0109 NA 0.0666 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 G , 1407,2987 231,945,1021 55 69 64 ,234 -6.7 0 21 dbSNP_129 64 509,8071 15,479,3796 no intron,coding-synonymous TSPEAR,KRTAP10-9 NM_144991.2,NM_198690.2 , 246,1424,4817 AA,AG,GG 5.9324,32.0209,14.768 , ,78/293 46047322 1916,11058 2197 4290 6487 SO:0001819 synonymous_variant AJ566386 CCDS42961.1 21q22.3 2007-10-05 ENSG00000221837 ENSG00000221837 386676 Keratin associated proteins 22971 protein-coding gene gene with protein product KRTAP18-9 NA Standard NM_198690 NA Approved KAP10.9, KAP18.9 uc002zfp.4 P60411 OTTHUMG00000057637 ENST00000397911.3:c.234G>A chr21.hg19:g.46047322G>A NA A2RRG1|A6NIR9|Q70LJ1 hg19 CCDS42961.1 0.02 4.469971 CTCxTGC COVERED NOVEL KRTAP10-9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000128040.1 1 4.212854 KEEP 0 0 0 14 449 GG 0.995343 0.995343 0 + 16 60 581 0 0 46.874496 81 60 2673 157 ENST00000397911.3 0.164948 1 PTTG1IP 754 __UNKNOWN__ __UNKNOWN__ 21 46293609 46293609 __UNKNOWN__ 5'UTR SNP C C T rs548368602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46293609C>T ENST00000397887.3 - 0 15 PTTG1IP_ENST00000330938.3_5'UTR P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein NA NA multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) receptor activity (GO:0004872) ovary(1)|prostate(1) 2 Colorectal(79;0.0659) CCGGAACAGCCGCGGCGCCGG 0.701 NA C||| 2 0.000399361 0.0 0.0 5008 , , NA 10527 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF149785 CCDS13715.1, CCDS68221.1 21q22.3 2008-07-04 ENSG00000183255 ENSG00000183255 754 13524 protein-coding gene gene with protein product 603784 C21orf3, C21orf1 NA 9570958, 10830953 Standard NM_004339 NA Approved PBF uc002zgb.2 P53801 OTTHUMG00000090254 ENST00000397887.3:c.-78G>A chr21.hg19:g.46293609C>T NA B2RDP7|D3DSL9|Q9NS09 hg19 0.02 9.099084 AGCxGCG COVERED NOVEL PTTG1IP-005 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000206557.1 0 51.460766 KEEP 0 0 0 171 5878 CC 1 1 0 - 13 60 464 0 0 30.817184 221 60 7575 533 ENST00000397887.3 0.055556 1 ITGB2 3689 __UNKNOWN__ __UNKNOWN__ 21 46306594 46306594 __UNKNOWN__ Intron SNP G G A rs33973568 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46306594G>A ENST00000397854.3 - 14 2114 ITGB2_ENST00000397852.1_Intron|ITGB2_ENST00000397850.2_Intron|ITGB2_ENST00000302347.5_Intron|ITGB2_ENST00000355153.4_Intron|ITGB2_ENST00000397857.1_Intron P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) NA NA apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982) cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCAGGAGGTCGCATAGTGTGG 0.657 NA G||| 793 0.158347 0.0333 0.268 5008 , , NA 15565 0.3899 NA 0.1083 False NA ,,, NA NA NA 2504 0.0624 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK222505 CCDS13716.1 21q22.3 2014-09-17 2006-03-02 ENSG00000160255 ENSG00000160255 3689 CD molecules, Complement system, Integrins 6155 protein-coding gene gene with protein product 600065 integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) CD18, MFI7 NA Standard NM_000211 NM_000211 NA Approved LFA-1, MAC-1 uc002zgf.3 P05107 OTTHUMG00000090257 ENST00000397854.3:c.2076+56C>T chr21.hg19:g.46306594G>A NA B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72 hg19 0.02 4.053657 GTCxCAT COVERED NOVEL ITGB2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000206567.1 3 2.406995 KEEP 0 0 0 8 246 GG 0.99257 0.99257 0 - 5 60 183 0 0 11.520967 123 60 3857 138 ENST00000397854.3 0.039062 1 ITGB2 3689 __UNKNOWN__ __UNKNOWN__ 21 46330628 46330628 __UNKNOWN__ Intron SNP C C T rs2280965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46330628C>T ENST00000397854.3 - 2 96 ITGB2_ENST00000397852.1_Intron|ITGB2_ENST00000397850.2_Intron|ITGB2_ENST00000302347.5_Intron|ITGB2_ENST00000397846.3_Intron|ITGB2_ENST00000355153.4_Intron|ITGB2_ENST00000397857.1_Intron P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) NA NA apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982) cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901) breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) CTCCGTGGAACACAGAACTCA 0.647 NA C||| 742 0.148163 0.0295 0.1686 5008 , , NA 18700 0.3304 NA 0.0984 False NA ,,, NA NA NA 2504 0.1575 NA NA NA NA 0 C , 231,4175 135.3+/-171.4 8,215,1980 48 49 49 , 0.7 0.4 21 dbSNP_100 49 851,7749 191.4+/-237.6 39,773,3488 no intron,intron ITGB2 NM_000211.3,NM_001127491.1 , 47,988,5468 TT,TC,CC 9.8953,5.2429,8.3192 , , 46330628 1082,11924 2203 4300 6503 SO:0001627 intron_variant AK222505 CCDS13716.1 21q22.3 2014-09-17 2006-03-02 ENSG00000160255 ENSG00000160255 3689 CD molecules, Complement system, Integrins 6155 protein-coding gene gene with protein product 600065 integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit) CD18, MFI7 NA Standard NM_000211 NM_000211 NA Approved LFA-1, MAC-1 uc002zgf.3 P05107 OTTHUMG00000090257 ENST00000397854.3:c.58+11G>A chr21.hg19:g.46330628C>T NA B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72 hg19 0.02 8.780611 GAAxACA COVERED NOVEL ITGB2-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000206567.1 1 23.175015 KEEP 0 0 0 77 2739 CC 1 1 0 - 14 60 493 0 0 32.951446 222 60 8375 403 ENST00000397854.3 0.059322 1 POFUT2 23275 __UNKNOWN__ __UNKNOWN__ 21 46705621 46705621 __UNKNOWN__ Silent SNP G G A rs2297285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46705621G>A ENST00000349485.5 - 2 380 c.354C>T c.(352-354)ccC>ccT p.P118P POFUT2_ENST00000331343.7_Silent_p.P118P NM_133635.4 NP_598368.2 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 118 NA fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794) peptide-O-fucosyltransferase activity (GO:0046922) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) ACTCGATGACGGGGATGTTTT 0.547 NA G||| 818 0.163339 0.0159 0.1196 5008 , , NA 21057 0.1776 NA 0.2485 False NA ,,, NA NA NA 2504 0.2914 NA NA NA NA 0 G , 227,4179 135.7+/-171.8 3,221,1979 81 88 85 354,354 -9.3 0.3 21 dbSNP_100 85 2116,6484 363.6+/-333.2 267,1582,2451 no coding-synonymous,coding-synonymous POFUT2 NM_015227.4,NM_133635.4 , 270,1803,4430 AA,AG,GG 24.6047,5.1521,18.0148 , 118/425,118/430 46705621 2343,10663 2203 4300 6503 SO:0001819 synonymous_variant AJ203079 CCDS13719.1, CCDS13721.1 21q22.3 2013-03-06 2004-06-07 2004-06-09 ENSG00000186866 ENSG00000186866 23275 2.4.1.221 Fucosyltransferases 14683 protein-coding gene gene with protein product peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 2 610249 chromosome 21 open reading frame 80 C21orf80 NA Standard NM_015227 NM_133635 NA Approved KIAA0958, FUT13 uc002zhc.3 Q9Y2G5 OTTHUMG00000084874 ENST00000349485.5:c.354C>T chr21.hg19:g.46705621G>A NA Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3 hg19 CCDS13719.1 0.02 24.537168 GACxGGG COVERED NOVEL POFUT2-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000192573.2 4 68.619119 KEEP 0 0 0 228 7822 GG 1 1 0 - 16 60 582 0 0 34.31606 546 60 19042 976 ENST00000349485.5 0.02847 1 COL18A1 80781 __UNKNOWN__ __UNKNOWN__ 21 46902273 46902273 __UNKNOWN__ Intron SNP A A G rs2236468 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46902273A>G ENST00000359759.4 + 13 2940 COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCGGGGCCCCAGGCGTTTGTG 0.637 NA G||| 2475 0.494209 0.6846 0.4366 5008 , , NA 15268 0.4752 NA 0.3966 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 G , 1114,628 377,360,134 9 11 10 , -0.3 0 21 dbSNP_98 10 1548,2416 321,906,755 no intron,intron COL18A1 NM_030582.3,NM_130445.2 , 698,1266,889 GG,GA,AA 39.0515,36.0505,46.6526 , , 46902273 2662,3044 871 1982 2853 SO:0001627 intron_variant CCDS42971.1, CCDS42972.1 21q22.3 2013-01-16 ENSG00000182871 ENSG00000182871 80781 Collagens 2195 protein-coding gene gene with protein product endostatin 120328 Knobloch syndrome, type 1 KNO NA 8188291, 8776601, 10942434, 17546652 Standard NM_130445 NA Approved KS, KNO1 uc002zhi.3 P39060 OTTHUMG00000090407 ENST00000359759.4:c.2919+334A>G chr21.hg19:g.46902273A>G NA A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8 hg19 0.02 7.265627 CCCxGGC COVERED NOVEL COL18A1-201 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000206827.1 0 31.891572 KEEP 0 0 0 106 3236 AA 1 1 0 + 7 60 266 0 0 17.060162 175 60 6361 371 ENST00000359759.4 0.038462 1 COL18A1 80781 __UNKNOWN__ __UNKNOWN__ 21 46912386 46912386 __UNKNOWN__ Intron SNP C C T rs1556329 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46912386C>T ENST00000359759.4 + 22 3423 COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GTAAGTCGCTCGAGTCCAGTT 0.512 NA C||| 638 0.127396 0.1483 0.098 5008 , , NA 17505 0.2073 NA 0.0885 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 C , 183,1201 11,161,520 108 88 94 , -3.1 0 21 dbSNP_88 94 304,2878 10,284,1297 no intron,intron COL18A1 NM_030582.3,NM_130445.2 , 21,445,1817 TT,TC,CC 9.5537,13.2225,10.6658 , , 46912386 487,4079 692 1591 2283 SO:0001627 intron_variant CCDS42971.1, CCDS42972.1 21q22.3 2013-01-16 ENSG00000182871 ENSG00000182871 80781 Collagens 2195 protein-coding gene gene with protein product endostatin 120328 Knobloch syndrome, type 1 KNO NA 8188291, 8776601, 10942434, 17546652 Standard NM_130445 NA Approved KS, KNO1 uc002zhi.3 P39060 OTTHUMG00000090407 ENST00000359759.4:c.3403-63C>T chr21.hg19:g.46912386C>T NA A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8 hg19 0.02 3.932797 GCTxGAG COVERED NOVEL COL18A1-201 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000206827.1 2 15.347775 KEEP 0 0 0 51 1701 CC 1 0.999998 0 + 5 60 174 0 0 10.78367 114 60 4191 199 ENST00000359759.4 0.042017 0.999998 COL18A1 80781 __UNKNOWN__ __UNKNOWN__ 21 46913310 46913310 __UNKNOWN__ Intron SNP C C G rs749626 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:46913310C>G ENST00000359759.4 + 25 3543 COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Intron|COL18A1_ENST00000459895.1_Intron P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 NA NA angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601) basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GTGAAAGGACCCAGCCTGCGA 0.672 NA C||| 1348 0.269169 0.385 0.1931 5008 , , NA 14844 0.2212 NA 0.2286 False NA ,,, NA NA NA 2504 0.2577 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS42971.1, CCDS42972.1 21q22.3 2013-01-16 ENSG00000182871 ENSG00000182871 80781 Collagens 2195 protein-coding gene gene with protein product endostatin 120328 Knobloch syndrome, type 1 KNO NA 8188291, 8776601, 10942434, 17546652 Standard NM_130445 NA Approved KS, KNO1 uc002zhi.3 P39060 OTTHUMG00000090407 ENST00000359759.4:c.3523-105C>G chr21.hg19:g.46913310C>G NA A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8 hg19 0.02 1.619734 GACxCAG COVERED NOVEL COL18A1-201 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000206827.1 1 11.736945 KEEP 0 0 0 39 1360 CC 1 0.999956 0 + 4 60 138 0 0 8.437417 95 60 3479 161 ENST00000359759.4 0.040404 0.999956 PCBP3 54039 __UNKNOWN__ __UNKNOWN__ 21 47350010 47350010 __UNKNOWN__ Intron SNP G G A rs3827268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47350010G>A ENST00000400304.1 + 9 766 PRED62_ENST00000593412.1_Missense_Mutation_p.P91L|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400309.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000449640.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 NA NA mRNA metabolic process (GO:0016071) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) AGGTGCAGTTGGATTTGTGAG 0.602 NA G||| 724 0.144569 0.3941 0.0663 5008 , , NA 9573 0.0417 NA 0.0746 False NA ,,, NA NA NA 2504 0.0409 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF176329 CCDS42974.2, CCDS46652.1 21q22.3 2013-07-16 2001-11-28 ENSG00000183570 ENSG00000183570 54039 8651 protein-coding gene gene with protein product 608502 poly(rC)-binding protein 3 NA 10936052 Standard NM_020528 NA Approved uc002zhq.2 P57721 OTTHUMG00000090399 ENST00000400304.1:c.766+101G>A chr21.hg19:g.47350010G>A NA A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6 hg19 0.02 8.744721 GTTxGAT COVERED NOVEL PCBP3-003 NOVEL basic|appris_principal protein_coding NA protein_coding OTTHUMT00000206810.1 1 6.921896 KEEP 0 0 0 23 784 GG 0.999892 0.999892 0 + 7 60 265 0 0 16.576022 199 60 7032 242 ENST00000400304.1 0.033981 1 COL6A1 1291 __UNKNOWN__ __UNKNOWN__ 21 47412198 47412198 __UNKNOWN__ Intron SNP G G A rs183797616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47412198G>A ENST00000361866.3 + 17 1350 NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208) collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383) platelet-derived growth factor binding (GO:0048407) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) CTCTTTGCTCGGGGTCTACTC 0.612 NA G||| 18 0.00359425 0.0 0.0 5008 , , NA 17157 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G 1,1383 0,1,691 89 114 107 -3.3 0 21 107 0,3182 0,0,1591 no intron COL6A1 NM_001848.2 0,1,2282 AA,AG,GG 0.0,0.0723,0.0219 47412198 1,4565 692 1591 2283 SO:0001627 intron_variant M20776 CCDS13727.1 21q22.3 2014-09-17 ENSG00000142156 ENSG00000142156 1291 Collagens 2211 protein-coding gene gene with protein product 120220 NA Standard NM_001848 XM_006723964 NA Approved uc002zhu.1 P12109 OTTHUMG00000090440 ENST00000361866.3:c.1236+67G>A chr21.hg19:g.47412198G>A NA O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8 hg19 CCDS13727.1 0.02 13.920769 CTCxGGG COVERED NOVEL COL6A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206877.1 2 38.817829 KEEP 0 0 0 129 4408 GG 1 1 0 + 10 60 388 0 0 24.255245 310 60 10691 591 ENST00000361866.3 0.03125 1 COL6A2 1292 __UNKNOWN__ __UNKNOWN__ 21 47538691 47538691 __UNKNOWN__ Intron SNP G G T rs9917540 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47538691G>T ENST00000300527.4 + 13 1283 COL6A2_ENST00000310645.5_Intron|COL6A2_ENST00000397763.1_Intron|COL6A2_ENST00000409416.1_Intron|COL6A2_ENST00000357838.4_Intron NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGTCACCATGGTGCCGCATTG 0.647 NA G||| 1577 0.314896 0.4289 0.183 5008 , , NA 18640 0.3849 NA 0.2256 False NA ,,, NA NA NA 2504 0.274 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M20777 CCDS13728.1, CCDS13729.1, CCDS13730.1 21q22.3 2014-09-17 ENSG00000142173 ENSG00000142173 1292 Collagens 2212 protein-coding gene gene with protein product 120240 NA Standard NM_001849 NA Approved uc002zia.1 P12110 OTTHUMG00000090489 ENST00000300527.4:c.1179+101G>T chr21.hg19:g.47538691G>T NA Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8 hg19 CCDS13728.1 0.02 3.67753 ATGxTGC COVERED NOVEL COL6A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206971.1 1 16.251711 KEEP 0 0 0 54 1864 GG 1 0.999996 0 + 5 60 172 0 0 10.678289 109 60 3996 194 ENST00000300527.4 0.04386 0.999996 COL6A2 1292 __UNKNOWN__ __UNKNOWN__ 21 47542684 47542684 __UNKNOWN__ Intron SNP A A G rs377624461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47542684A>G ENST00000300527.4 + 21 1712 COL6A2_ENST00000310645.5_Intron|COL6A2_ENST00000397763.1_Intron|COL6A2_ENST00000409416.1_Intron|COL6A2_ENST00000357838.4_Intron NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CTCCCGTTTAAAGGACCCCAA 0.493 NA A||| 7 0.00139776 0.0 0.0 5008 , , NA 16824 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M20777 CCDS13728.1, CCDS13729.1, CCDS13730.1 21q22.3 2014-09-17 ENSG00000142173 ENSG00000142173 1292 Collagens 2212 protein-coding gene gene with protein product 120240 NA Standard NM_001849 NA Approved uc002zia.1 P12110 OTTHUMG00000090489 ENST00000300527.4:c.1609-105A>G chr21.hg19:g.47542684A>G NA Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8 hg19 CCDS13728.1 0.02 4.818797 TTAxAGG COVERED NOVEL COL6A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206971.1 0 11.407649 KEEP 0 0 0 38 1170 AA 1 0.999992 0 + 5 60 195 0 0 13.07455 104 70 3711 175 ENST00000300527.4 0.045872 0.999992 COL6A2 1292 __UNKNOWN__ __UNKNOWN__ 21 47545310 47545310 __UNKNOWN__ Intron SNP T T C rs16978870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47545310T>C ENST00000300527.4 + 25 1920 COL6A2_ENST00000310645.5_Intron|COL6A2_ENST00000397763.1_Intron|COL6A2_ENST00000409416.1_Intron|COL6A2_ENST00000357838.4_Intron NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 NA NA axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749) collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982) NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CGCTGGGTCCTGCATGTGCAC 0.706 NA C||| 774 0.154553 0.3374 0.0576 5008 , , NA 12798 0.0308 NA 0.0984 False NA ,,, NA NA NA 2504 0.1616 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M20777 CCDS13728.1, CCDS13729.1, CCDS13730.1 21q22.3 2014-09-17 ENSG00000142173 ENSG00000142173 1292 Collagens 2212 protein-coding gene gene with protein product 120240 NA Standard NM_001849 NA Approved uc002zia.1 P12110 OTTHUMG00000090489 ENST00000300527.4:c.1817-69T>C chr21.hg19:g.47545310T>C NA Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8 hg19 CCDS13728.1 0.02 14.71636 TCCxGCA COVERED NOVEL COL6A2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206971.1 3 34.299241 KEEP 0 0 0 114 3474 TT 1 1 0 + 14 60 470 0 0 27.931717 351 60 12812 556 ENST00000300527.4 0.038356 1 FTCD 10841 __UNKNOWN__ __UNKNOWN__ 21 47558904 47558904 __UNKNOWN__ Intron SNP C C T rs372393663 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47558904C>T ENST00000291670.5 - 11 1304 FTCD_ENST00000397743.1_Intron|FTCD_ENST00000397746.3_Intron|FTCD_ENST00000397748.1_Intron|FTCD_ENST00000359679.2_Intron|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000355384.2_Intron NM_006657.2 NP_006648.1 O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409) endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) Tetrahydrofolic acid(DB00116) CTCTGAGCTCCCACAAGGGGC 0.582 NA C||| 95 0.0189696 0.0 0.0 5008 , , NA 18178 0.0069 NA 0.0 False NA ,,, NA NA NA 2504 0.09 NA NA NA NA 0 34 38 37 NA NA 21 NA 47558904 692 1591 2283 SO:0001627 intron_variant U91541 CCDS13731.1 21q22.3 2013-06-10 2013-06-10 ENSG00000160282 ENSG00000160282 10841 2.1.2.5, 4.3.1.4 3974 protein-coding gene gene with protein product 606806 formiminotransferase cyclodeaminase NA 10029623, 10773664 Standard NM_006657 NM_006657 NA Approved uc002zif.3 O95954 OTTHUMG00000090488 ENST00000291670.5:c.1261-67G>A chr21.hg19:g.47558904C>T NA B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2 hg19 CCDS13731.1 0.02 3.8009 CTCxCAC COVERED NOVEL FTCD-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206962.1 0 13.242876 KEEP 0 0 0 44 1544 CC 1 1 0 - 7 60 246 0 0 16.012792 127 60 4685 213 ENST00000291670.5 0.052239 1 FTCD 10841 __UNKNOWN__ __UNKNOWN__ 21 47575470 47575470 __UNKNOWN__ 5'UTR SNP G G A rs2277821 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47575470G>A ENST00000291670.5 - 0 11 FTCD_ENST00000397743.1_5'UTR|FTCD_ENST00000397746.3_5'UTR|FTCD_ENST00000397748.1_5'UTR|FTCD_ENST00000359679.2_5'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_5'UTR NM_006657.2 NP_006648.1 O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase NA NA cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794) folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409) endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) Tetrahydrofolic acid(DB00116) CTCCTCTCTGGGCAGATGGAA 0.627 NA G||| 370 0.0738818 0.0 0.0317 5008 , , NA 17706 0.3105 NA 0.0129 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G , 10,4390 16.8+/-37.8 0,10,2190 64 53 57 , -2.8 0 21 dbSNP_100 57 32,8568 22.8+/-68.1 0,32,4268 no utr-5,utr-5 FTCD NM_006657.2,NM_206965.1 , 0,42,6458 AA,AG,GG 0.3721,0.2273,0.3231 , , 47575470 42,12958 2200 4300 6500 SO:0001623 5_prime_UTR_variant U91541 CCDS13731.1 21q22.3 2013-06-10 2013-06-10 ENSG00000160282 ENSG00000160282 10841 2.1.2.5, 4.3.1.4 3974 protein-coding gene gene with protein product 606806 formiminotransferase cyclodeaminase NA 10029623, 10773664 Standard NM_006657 NM_006657 NA Approved uc002zif.3 O95954 OTTHUMG00000090488 ENST00000291670.5:c.-33C>T chr21.hg19:g.47575470G>A NA B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2 hg19 CCDS13731.1 0.02 10.94187 CTGxGCA COVERED NOVEL FTCD-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000206962.1 2 15.925975 KEEP 0 0 0 53 1892 GG 1 1 0 - 9 60 331 0 0 20.389633 253 60 9368 408 ENST00000291670.5 0.034351 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47608580 47608580 __UNKNOWN__ 3'UTR SNP G G A rs2968 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47608580G>A ENST00000397728.3 - 0 4715 LSS_ENST00000356396.4_3'UTR|AP001468.58_ENST00000415026.1_RNA NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) AGTCCTCTTCGTGGAACAGGA 0.483 NA G||| 2895 0.578075 0.5287 0.4957 5008 , , NA 19837 0.6815 NA 0.6123 False NA ,,, NA NA NA 2504 0.5613 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.*2438C>T chr21.hg19:g.47608580G>A NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 15.939805 TTCxTGG COVERED 1286 0.5888278388278388 233 0.4735772357723577 178 0.49171270718232046 411 0.7185314685314685 464 0.6121372031662269 G 0.034 -1.316458 0.01331 . . ENSG00000160285 ENST00000419093 . . . 2.16 0.271 0.15640 . . . . . . . . . . . 0.54753 P 1.0999999999983245E-5 . . . . . . . . . . . . . . 4.3574 0.11185 0.3613:0.0:0.6387:0.0 rs2968;rs2968 . . . X 109 . . R - 1 2 LSS 46433008 0.752000 0.28338 0.022000 0.16811 0.001000 0.01503 0.058000 0.14301 0.043000 0.15746 -0.145000 0.13849 CGA NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 1 25.013735 KEEP 0 1 31 94 3206 GG 1 1 0 - 30 60 1086 0 0 78.120982 329 60 11617 528 ENST00000397728.3 0.083565 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47609510 47609510 __UNKNOWN__ 3'UTR SNP T T C rs9717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47609510T>C ENST00000397728.3 - 0 3785 LSS_ENST00000356396.4_Intron|LSS_ENST00000457828.2_3'UTR NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) AGCCCTGGACTGCACACCAAG 0.627 NA C||| 3666 0.732029 0.9319 0.5807 5008 , , NA 19557 0.6865 NA 0.6809 False NA ,,, NA NA NA 2504 0.6687 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.*1508A>G chr21.hg19:g.47609510T>C NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 2.144253 GACxGCA COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 2 3.009052 KEEP 0 0 0 10 311 TT 0.992708 0.983738 0 - 7 60 248 0 0 18.651807 55 60 2006 74 ENST00000397728.3 0.112903 0.990964 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47609677 47609677 __UNKNOWN__ 3'UTR SNP A A G rs914247 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47609677A>G ENST00000397728.3 - 0 3618 LSS_ENST00000356396.4_Intron|LSS_ENST00000457828.2_3'UTR NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) AAGAGCAGATAAGGAGGTATA 0.622 NA G||| 3060 0.611022 0.5825 0.5274 5008 , , NA 20217 0.6835 NA 0.673 False NA ,,, NA NA NA 2504 0.5706 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.*1341T>C chr21.hg19:g.47609677A>G NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 6.211252 GATxAGG COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 2 12.16283 KEEP 0 1 24 49 1424 AA 1 1 0 - 7 60 252 0 0 15.747765 170 60 5988 295 ENST00000397728.3 0.039548 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47610066 47610066 __UNKNOWN__ 3'UTR SNP T T C rs2330408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47610066T>C ENST00000397728.3 - 0 3229 LSS_ENST00000356396.4_Intron|LSS_ENST00000457828.2_3'UTR NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) ATGGGCTGGGTGCTGGCTGTC 0.652 NA t||| 3171 0.633187 0.6634 0.5375 5008 , , NA 17279 0.6825 NA 0.674 False NA ,,, NA NA NA 2504 0.5675 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.*952A>G chr21.hg19:g.47610066T>C NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 9.769477 GGGxGCT COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 1 17.143499 KEEP 0 0 0 57 1648 TT 1 1 0 - 16 60 605 0 0 43.818977 187 60 6370 301 ENST00000397728.3 0.078818 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47612466 47612466 __UNKNOWN__ Intron SNP A A G rs2187120 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47612466A>G ENST00000397728.3 - 21 2067 LSS_ENST00000356396.4_Intron|LSS_ENST00000522411.1_Intron|LSS_ENST00000457828.2_Intron|AP001468.1_ENST00000594486.1_Silent_p.H243H NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) gcatgtgtacatgtgtgcata 0.507 NA a||| 2909 0.580871 0.5348 0.4986 5008 , , NA 26242 0.6825 NA 0.6133 False NA ,,, NA NA NA 2504 0.5634 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1989-593T>C chr21.hg19:g.47612466A>G NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 4.31104 TACxTGT COVERED 1291 0.5911172161172161 237 0.4817073170731707 180 0.4972375690607735 410 0.7167832167832168 464 0.6121372031662269 a 0.319 -0.963235 0.02249 . . ENSG00000235878 ENST00000424538 . . . 2.43 -4.87 0.03123 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.30650 -0.9971 4 0.23891 T 0.37 . 2.6496 0.04995 0.5663:0.1259:0.1816:0.1262 rs2187120 . . . R 283 . ENSP00000387845:C283R C - 1 0 AP001468.1 46436894 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -3.108000 0.00601 -2.829000 0.00340 -1.106000 0.02097 TGT NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 0 6.920612 KEEP 0 0 0 23 715 AA 0.999892 0.999885 0 - 6 60 211 0 0 13.85576 104 60 3809 167 ENST00000397728.3 0.054545 0.999993 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47612471 47612471 __UNKNOWN__ Intron SNP T T C rs2187121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47612471T>C ENST00000397728.3 - 21 2067 LSS_ENST00000356396.4_Intron|LSS_ENST00000522411.1_Intron|LSS_ENST00000457828.2_Intron|AP001468.1_ENST00000594486.1_Missense_Mutation_p.T242A NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) tgtacatgtgtgcatagacct 0.512 NA T||| 2909 0.580871 0.5348 0.4986 5008 , , NA 25286 0.6825 NA 0.6133 False NA ,,, NA NA NA 2504 0.5634 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1989-598A>G chr21.hg19:g.47612471T>C NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 4.48405 GTGxGCA COVERED 1289 0.5902014652014652 235 0.47764227642276424 180 0.4972375690607735 410 0.7167832167832168 464 0.6121372031662269 T 6.316 0.426350 0.11987 . . ENSG00000235878 ENST00000424538 . . . 2.31 -4.61 0.03380 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.35525 -0.9785 4 0.56958 D 0.05 . 2.3791 0.04349 0.4005:0.2881:0.0:0.3114 rs2187121;rs2187121 . . . R 281 . ENSP00000387845:H281R H - 2 0 AP001468.1 46436899 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.814000 0.04486 -1.030000 0.03312 -0.514000 0.04452 CAC NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 0 6.906601 KEEP 0 0 0 23 669 TT 0.999892 0.999888 0 - 6 60 228 0 0 15.480393 107 60 3845 173 ENST00000397728.3 0.053097 0.999995 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47614443 47614443 __UNKNOWN__ Silent SNP A A G rs2254522 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47614443A>G ENST00000397728.3 - 20 2028 c.1950T>C c.(1948-1950)caT>caC p.H650H LSS_ENST00000356396.4_Silent_p.H650H|LSS_ENST00000522411.1_Silent_p.H639H|LSS_ENST00000457828.2_Silent_p.H570H NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 650 NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) AGCATGTGTTATGGATCTGGG 0.622 NA G||| 1695 0.338458 0.3253 0.2637 5008 , , NA 20984 0.5655 NA 0.1958 False NA ,,, NA NA NA 2504 0.3221 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 G ,,, 1379,3027 687.5+/-404.9 223,933,1047 98 78 85 1950,1917,1710,1950 1.2 1 21 dbSNP_100 85 1740,6860 735.0+/-406.9 167,1406,2727 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous LSS NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5 ,,, 390,2339,3774 GG,GA,AA 20.2326,31.2982,23.9812 ,,, 650/733,639/722,570/653,650/733 47614443 3119,9887 2203 4300 6503 SO:0001819 synonymous_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1950T>C chr21.hg19:g.47614443A>G NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 5.009812 GTTxTGG COVERED 703 0.3218864468864469 126 0.25609756097560976 76 0.20994475138121546 347 0.6066433566433567 154 0.20316622691292877 G 5.699 0.313580 0.10789 0.312982 0.202326 ENSG00000160285 ENST00000419093 . . . 5.07 1.21 0.21127 . . . . . . . . . . . 0.09310 P 0.9999999999999816 . . . . . . . . . . . . . . 9.0859 0.36581 0.3764:0.0:0.6236:0.0 rs2254522;rs2254522 . . . Q 18 . . X - 1 0 LSS 46438871 1.000000 0.71417 0.967000 0.41034 0.432000 0.31715 2.487000 0.45268 -0.190000 0.10465 -0.726000 0.03593 TAA NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 0 9.325267 KEEP 0 0 0 31 933 AA 0.999997 0.99999 0 - 6 60 239 0 0 16.65195 104 60 3597 169 ENST00000397728.3 0.054545 0.999993 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47614469 47614469 __UNKNOWN__ Missense_Mutation SNP A A C rs2254524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47614469A>C ENST00000397728.3 - 20 2002 c.1924T>G c.(1924-1926)Ttg>Gtg p.L642V LSS_ENST00000356396.4_Missense_Mutation_p.L642V|LSS_ENST00000522411.1_Missense_Mutation_p.L631V|LSS_ENST00000457828.2_Missense_Mutation_p.L562V NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 642 NA L -> V (in dbSNP:rs2254524). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.5}. cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) GCACTCTGCAAATAACGCCGC 0.632 NA C||| 3667 0.732228 0.9319 0.5821 5008 , , NA 20341 0.6875 NA 0.6809 False NA ,,, NA NA NA 2504 0.6677 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 C VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU 3915,491 226.5+/-242.0 1745,425,33 104 82 89 1924,1891,1684,1924 3.3 0.2 21 dbSNP_100 89 5732,2868 448.6+/-361.9 1914,1904,482 yes missense,missense,missense,missense LSS NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5 32,32,32,32 3659,2329,515 CC,CA,AA 33.3488,11.1439,25.8265 benign,benign,benign,benign 642/733,631/722,562/653,642/733 47614469 9647,3359 2203 4300 6503 SO:0001583 missense U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1924T>G chr21.hg19:g.47614469A>C ENSP00000380837:p.Leu642Val NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 4.581773 GCAxATA COVERED 1610|1610 0.7371794871794872|0.7371794871794872 462|462 0.9390243902439024|0.9390243902439024 216|216 0.5966850828729282|0.5966850828729282 413|413 0.722027972027972|0.722027972027972 519|519 0.6846965699208444|0.6846965699208444 C|C 3.333|3.333 -0.136198|-0.136198 0.06711|0.06711 0.888561|0.888561 0.666512|0.666512 ENSG00000160285|ENSG00000160285 ENST00000419093|ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411 .|T;T;T;T .|0.20463 .|2.07;2.07;2.07;2.07 5.07|5.07 3.26|3.26 0.37387|0.37387 .|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1); .|0.464065 .|0.23889 .|N .|0.043561 T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.00056|0.00056 -2.365|-2.365 0.53005|0.53005 P|P 3.6000000000036E-5|3.6000000000036E-5 .|B;B .|0.02656 .|0.0;0.0 .|B;B .|0.01281 .|0.0;0.0 T|T 0.31166|0.31166 -0.9953|-0.9953 4|9 .|0.02654 .|T .|1 .|. 7.8607|7.8607 0.29507|0.29507 0.1314:0.727:0.0:0.1416|0.1314:0.727:0.0:0.1416 rs2254524;rs17293863;rs17857069;rs59510715;rs2254524|rs2254524;rs17293863;rs17857069;rs59510715;rs2254524 .|631;642 .|E9PEI9;P48449 .|.;ERG7_HUMAN C|V 9|642;562;642;631 .|ENSP00000348762:L642V;ENSP00000409191:L562V;ENSP00000380837:L642V;ENSP00000429133:L631V .|ENSP00000348762:L642V F|L -|- 2|1 0|2 LSS|LSS 46438897|46438897 0.966000|0.966000 0.33281|0.33281 0.227000|0.227000 0.23927|0.23927 0.148000|0.148000 0.21650|0.21650 2.308000|2.308000 0.43690|0.43690 0.275000|0.275000 0.22094|0.22094 -0.121000|-0.121000 0.15023|0.15023 TTT|TTG NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 0 12.036785 KEEP 0 0 0 40 1280 AA 1 1 0 - 6 60 228 0 0 14.991251 130 60 4735 220 ENST00000397728.3 0.044118 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47614660 47614660 __UNKNOWN__ Intron SNP G G T rs2277824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47614660G>T ENST00000397728.3 - 20 1896 LSS_ENST00000356396.4_Intron|LSS_ENST00000522411.1_Intron|LSS_ENST00000457828.2_Intron NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CTGCCTTGGGGTACGGGGAGG 0.592 NA G||| 1103 0.220248 0.0522 0.1902 5008 , , NA 18152 0.5585 NA 0.1421 False NA ,,, NA NA NA 2504 0.2004 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.1818-85C>A chr21.hg19:g.47614660G>T NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 6.191451 GGGxTAC COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 0 12.038519 KEEP 0 0 0 40 1402 GG 1 1 0 - 6 60 212 0 0 12.83156 162 60 6010 251 ENST00000397728.3 0.035714 1 LSS 4047 __UNKNOWN__ __UNKNOWN__ 21 47639492 47639492 __UNKNOWN__ Intron SNP C C G rs2277826 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47639492C>G ENST00000397728.3 - 6 629 LSS_ENST00000356396.4_Intron|LSS_ENST00000522411.1_Intron|LSS_ENST00000457828.2_Intron|LSS_ENST00000464357.1_Intron NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) NA NA cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202) endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020) lanosterol synthase activity (GO:0000250) cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) ACCACCTGAGCGGGGAGAGAA 0.587 NA G||| 2599 0.51897 0.3139 0.4669 5008 , , NA 19334 0.6716 NA 0.6302 False NA ,,, NA NA NA 2504 0.5613 NA NA NA Pancreas(114;955 2313 34923 50507) NA 0 G ,,, 1492,2912 654.2+/-399.7 274,944,984 108 79 89 ,,, -0.5 0 21 dbSNP_100 89 5098,3502 488.4+/-372.4 1543,2012,745 no intron,intron,intron,intron LSS NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5 ,,, 1817,2956,1729 GG,GC,CC 40.7209,33.8783,49.3233 ,,, ,,, 47639492 6590,6414 2202 4300 6502 SO:0001627 intron_variant U22526 CCDS13733.1, CCDS46654.1, CCDS54489.1 21q22.3 1998-05-07 ENSG00000160285 ENSG00000160285 4047 5.4.99.7 6708 protein-coding gene gene with protein product 600909 NA 7639730, 8655142 Standard NM_001001438 NA Approved OSC uc002zij.3 P48449 OTTHUMG00000090633 ENST00000397728.3:c.551-6G>C chr21.hg19:g.47639492C>G NA B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1 hg19 CCDS13733.1 0.02 11.398951 GAGxGGG COVERED NOVEL LSS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207274.2 1 17.454858 KEEP 0 0 0 58 1955 CC 1 1 0 - 16 60 574 0 0 38.759498 251 60 8368 376 ENST00000397728.3 0.059925 1 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47766139 47766139 __UNKNOWN__ Intron SNP T T C rs9982233 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47766139T>C ENST00000359568.5 + 4 827 PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin NA NA brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CGGCGGGGCCTGCACAGGCTC 0.607 NA t||| 3381 0.67512 0.8222 0.5447 5008 , , NA 15312 0.6409 NA 0.6501 False NA ,,, NA NA NA 2504 0.6299 NA NA NA NA 0 T 3443,963 730.0+/-410.1 1337,769,97 50 47 48 -6.3 0 21 dbSNP_119 48 5519,3081 658.7+/-401.6 1783,1953,564 no intron PCNT NM_006031.5 3120,2722,661 CC,CT,TT 35.8256,21.8566,31.0933 47766139 8962,4044 2203 4300 6503 SO:0001627 intron_variant AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.720+17T>C chr21.hg19:g.47766139T>C NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 5.510712 GCCxGCA COVERED NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 3 7.055291 KEEP 0 1 30 34 1074 TT 0.999999 0.999999 0 + 12 60 392 1 0 26.260931 153 60 5524 220 ENST00000359568.5 0.072727 1 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47766650 47766650 __UNKNOWN__ Intron SNP G G A rs2839217 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47766650G>A ENST00000359568.5 + 5 827 PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin NA NA brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) p.?(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTTTTCTCCGCCGCAGGCCG 0.577 NA A||| 1502 0.29992 0.1974 0.2262 5008 , , NA 19527 0.3849 NA 0.3926 False NA ,,, NA NA NA 2504 0.3078 NA NA NA NA 1 Unknown(1) prostate(1) A 913,3479 101,711,1384 11 12 12 -5.8 0 21 dbSNP_100 12 3246,5348 615,2016,1666 no intron PCNT NM_006031.5 716,2727,3050 AA,AG,GG 37.7705,20.7878,32.0268 47766650 4159,8827 2196 4297 6493 SO:0001627 intron_variant AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.721-7G>A chr21.hg19:g.47766650G>A NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 2.353723 TCCxCCG COVERED NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 0 6.014802 KEEP 0 0 0 20 630 GG 0.999863 0.989407 0 + 4 60 150 0 0 10.502891 57 60 1874 95 ENST00000359568.5 0.065574 0.989542 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47773103 47773103 __UNKNOWN__ Silent SNP C C A rs2249057 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47773103C>A ENST00000359568.5 + 10 1649 c.1542C>A c.(1540-1542)tcC>tcA p.S514S PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 514 Glu-rich. NA brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) p.S514S(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGCATGAGTCCGAACTGGAGC 0.483 NA C||| 1450 0.289537 0.2141 0.1988 5008 , , NA 20023 0.3839 NA 0.3449 False NA ,,, NA NA NA 2504 0.3016 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) C 1035,3371 379.4+/-323.3 115,805,1283 66 71 69 1542 -9.5 0 21 dbSNP_100 69 2844,5756 448.4+/-361.8 464,1916,1920 no coding-synonymous PCNT NM_006031.5 579,2721,3203 AA,AC,CC 33.0698,23.4907,29.8247 514/3337 47773103 3879,9127 2203 4300 6503 SO:0001819 synonymous_variant AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.1542C>A chr21.hg19:g.47773103C>A NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 11.535055 GTCxGAA COVERED NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 2 19.863886 KEEP 0 0 0 66 2280 CC 1 1 0 + 15 60 568 0 0 38.708599 259 60 9180 445 ENST00000359568.5 0.054745 1 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47836653 47836653 __UNKNOWN__ Missense_Mutation SNP C C T rs2070425 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47836653C>T ENST00000359568.5 + 30 6928 c.6821C>T c.(6820-6822)cCg>cTg p.P2274L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2274 NA P -> L (in dbSNP:rs2070425). brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACCCAGGGGCCGGGGCTGCTT 0.692 NA C||| 1250 0.249601 0.1611 0.1686 5008 , , NA 16607 0.3671 NA 0.2942 False NA ,,, NA NA NA 2504 0.2597 NA NA NA NA 0 C LEU/PRO 653,3323 59,535,1394 19 23 22 6821 -0.6 0 21 dbSNP_96 22 2011,5839 262,1487,2176 yes missense PCNT NM_006031.5 98 321,2022,3570 TT,TC,CC 25.6178,16.4235,22.5266 probably-damaging 2274/3337 47836653 2664,9162 1988 3925 5913 SO:0001583 missense AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.6821C>T chr21.hg19:g.47836653C>T ENSP00000352572:p.Pro2274Leu NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 5.046195 GGCxGGG COVERED 594 0.27197802197802196 78 0.15853658536585366 73 0.20165745856353592 229 0.40034965034965037 214 0.28232189973614774 C 0.064 -1.217766 0.01542 0.164235 0.256178 ENSG00000160299 ENST00000359568 T 0.01422 4.91 4.57 -0.651 0.11454 . 0.870858 0.09368 N 0.811814 T 0.00012 0.0000 N 0.03115 -0.41 0.80722 P 0.0 B;B 0.15141 0.012;0.001 B;B 0.10450 0.005;0.001 T 0.20472 -1.0274 9 0.15066 T 0.55 . 4.5198 0.11954 0.0:0.4651:0.1559:0.379 rs2070425 2156;2274 O95613-2;O95613 .;PCNT_HUMAN L 2274 ENSP00000352572:P2274L ENSP00000352572:P2274L P + 2 0 PCNT 46661081 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.039000 0.13884 -0.235000 0.09767 -0.794000 0.03295 CCG NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 0 13.540953 KEEP 0 0 0 45 1496 CC 1 0.999987 0 + 8 60 297 0 0 21.208342 98 60 3340 180 ENST00000359568.5 0.075472 0.999987 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47845992 47845992 __UNKNOWN__ Intron SNP T T C rs11702810 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47845992T>C ENST00000359568.5 + 33 7427 PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin NA NA brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) tcttttttttttttttttttt 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.7320+107T>C chr21.hg19:g.47845992T>C NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 -0.438579 TTTxTTT COVERED NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 1 3.908922 KEEP 0 0 0 13 375 TT 0.994391 0.954475 0 + 3 60 91 0 1 6.450665 24 60 845 71 ENST00000359568.5 0.111111 0.959859 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47851753 47851753 __UNKNOWN__ Missense_Mutation SNP A A G rs2073376 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47851753A>G ENST00000359568.5 + 38 8482 c.8375A>G c.(8374-8376)cAg>cGg p.Q2792R PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2792 NA Q -> R (in dbSNP:rs2073376). brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCTCTGCTGCAGAAGCTGAAG 0.617 NA G||| 3355 0.669928 0.8306 0.5447 5008 , , NA 20201 0.619 NA 0.6511 False NA ,,, NA NA NA 2504 0.6135 NA NA NA NA 0 G ARG/GLN 3491,915 351.1+/-311.1 1379,733,91 45 46 46 8375 2.3 0.3 21 dbSNP_96 46 5507,3093 471.5+/-368.1 1765,1977,558 yes missense PCNT NM_006031.5 43 3144,2710,649 GG,GA,AA 35.9651,20.7671,30.8165 benign 2792/3337 47851753 8998,4008 2203 4300 6503 SO:0001583 missense AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.8375A>G chr21.hg19:g.47851753A>G ENSP00000352572:p.Gln2792Arg NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 10.308569 TGCxGAA COVERED 1478 0.6767399267399268 401 0.8150406504065041 203 0.5607734806629834 374 0.6538461538461539 500 0.6596306068601583 G 0.007 -1.982483 0.00448 0.792329 0.640349 ENSG00000160299 ENST00000359568 T 0.01335 5.0 5.32 2.32 0.28847 . 0.284430 0.19017 N 0.124923 T 0.00012 0.0000 N 0.02247 -0.625 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.04128 -1.0975 9 0.08837 T 0.75 . 8.7059 0.34354 0.3348:0.0:0.6652:0.0 rs2073376;rs17299481;rs58436318;rs2073376 2674;2792 O95613-2;O95613 .;PCNT_HUMAN R 2792 ENSP00000352572:Q2792R ENSP00000352572:Q2792R Q + 2 0 PCNT 46676181 0.862000 0.29867 0.314000 0.25224 0.030000 0.12068 0.246000 0.18160 0.020000 0.15106 -0.119000 0.15052 CAG NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 1 10.702072 KEEP 0 2 70 60 1886 AA 1 1 0 + 11 60 383 0 0 23.685969 254 60 9390 397 ENST00000359568.5 0.041509 1 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47856106 47856106 __UNKNOWN__ Intron SNP C C A rs2236616 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47856106C>A ENST00000359568.5 + 39 9103 PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin NA NA brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTTGCAGCCACCCCTCTGTCC 0.662 NA C||| 1566 0.3127 0.2057 0.2305 5008 , , NA 14365 0.4167 NA 0.3966 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 C 831,3323 84,663,1330 12 11 11 0.6 0 21 dbSNP_98 11 2843,5323 498,1847,1738 no intron PCNT NM_006031.5 582,2510,3068 AA,AC,CC 34.8151,20.0048,29.8214 47856106 3674,8646 2077 4083 6160 SO:0001627 intron_variant AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.8996+45C>A chr21.hg19:g.47856106C>A NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 1.853473 CCAxCCC COVERED NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 1 6.019573 KEEP 0 0 0 20 707 CC 0.999863 0.989407 0 + 5 60 152 0 0 10.084386 56 60 1998 82 ENST00000359568.5 0.081967 0.989542 PCNT 5116 __UNKNOWN__ __UNKNOWN__ 21 47863757 47863757 __UNKNOWN__ Missense_Mutation SNP A A C rs2073380 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47863757A>C ENST00000359568.5 + 45 9842 c.9735A>C c.(9733-9735)agA>agC p.R3245S PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 3245 Interaction with NEK2. NA R -> S (in dbSNP:rs2073380). brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051) centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CTCCACCCAGAACCAGAGAGT 0.582 NA A||| 1033 0.20627 0.056 0.1354 5008 , , NA 14631 0.4117 NA 0.2157 False NA ,,, NA NA NA 2504 0.2382 NA NA NA NA 0 A SER/ARG 356,4050 179.0+/-207.6 16,324,1863 56 67 63 9735 -3 0 21 dbSNP_96 63 1849,6751 321.6+/-315.2 193,1463,2644 yes missense PCNT NM_006031.5 110 209,1787,4507 CC,CA,AA 21.5,8.0799,16.9537 benign 3245/3337 47863757 2205,10801 2203 4300 6503 SO:0001583 missense AB007862 CCDS33592.1 21q22.3 2014-02-20 2008-01-30 2005-11-03 ENSG00000160299 ENSG00000160299 5116 16068 protein-coding gene gene with protein product kendrin, Seckel syndrome 4 605925 pericentrin 2 (kendrin) PCNT2 NA 8812505, 9455477 Standard NM_006031 NM_006031 NA Approved KEN, KIAA0402, PCN, PCNTB, SCKL4 uc002zji.4 O95613 OTTHUMG00000090665 ENST00000359568.5:c.9735A>C chr21.hg19:g.47863757A>C ENSP00000352572:p.Arg3245Ser NA O43152|Q7Z7C9 hg19 CCDS33592.1 0.02 -0.332908 CAGxACC COVERED 513 0.2348901098901099 31 0.06300813008130081 60 0.16574585635359115 257 0.4493006993006993 165 0.21767810026385223 A 6.196 0.404264 0.11754 0.080799 0.215 ENSG00000160299 ENST00000359568 T 0.01414 4.92 5.0 -2.95 0.05564 . . . . . T 0.00012 0.0000 N 0.22421 0.69 0.80722 P 0.0 B;B 0.14438 0.006;0.01 B;B 0.13407 0.009;0.004 T 0.35574 -0.9783 8 0.08381 T 0.77 . 1.0943 0.01670 0.2612:0.3348:0.2529:0.1511 rs2073380;rs52807129;rs2073380 3048;3245 O95613-2;O95613 .;PCNT_HUMAN S 3245 ENSP00000352572:R3245S ENSP00000352572:R3245S R + 3 2 PCNT 46688185 0.000000 0.05858 0.000000 0.03702 0.020000 0.10135 -0.016000 0.12613 -0.225000 0.09913 0.533000 0.62120 AGA NOVEL PCNT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207336.1 0 3.309233 KEEP 0 0 0 11 324 AA 0.993072 0.846082 0 + 5 60 167 0 0 12.665275 33 60 1082 57 ENST00000359568.5 0.131579 0.851984 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47878892 47878892 __UNKNOWN__ 5'UTR SNP T T C rs11701121 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47878892T>C ENST00000400274.1 + 0 81 DIP2A_ENST00000318711.7_5'UTR|DIP2A_ENST00000427143.2_5'UTR|DIP2A_ENST00000466639.1_5'UTR|DIP2A_ENST00000457905.3_5'UTR Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGTGCGTTGCTGTCCTGGCCG 0.771 NA t||| 1417 0.282947 0.2579 0.1859 5008 , , NA 5312 0.4048 NA 0.3052 False NA ,,, NA NA NA 2504 0.2372 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.-153T>C chr21.hg19:g.47878892T>C NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 4.352729 TGCxGTC COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 1 20.451924 KEEP 0 0 0 68 2011 TT 1 1 0 + 6 60 219 0 0 14.250003 122 60 4356 253 ENST00000400274.1 0.046875 1 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47910523 47910523 __UNKNOWN__ Silent SNP A A G rs7279002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47910523A>G ENST00000400274.1 + 3 407 c.174A>G c.(172-174)ccA>ccG p.P58P DIP2A_ENST00000318711.7_Silent_p.P58P|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Silent_p.P58P|DIP2A_ENST00000435722.3_Silent_p.P58P|DIP2A_ENST00000457905.3_Silent_p.P58P|DIP2A_ENST00000417564.2_Silent_p.P58P Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 58 DMAP-interaction. NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GAATAGACCCATCTCTGCAAG 0.463 NA A||| 1797 0.358826 0.5053 0.1988 5008 , , NA 19194 0.4067 NA 0.2545 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 A ,,,,,, 1640,2134 358,924,605 37 39 38 ,174,174,174,174,174,174 -10.3 0 21 dbSNP_116 38 1911,6281 243,1425,2428 no intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DIP2A NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2 ,,,,,, 601,2349,3033 GG,GA,AA 23.3276,43.4552,29.6757 ,,,,,, ,58/799,58/1568,58/1572,58/890,58/842,58/813 47910523 3551,8415 1887 4096 5983 SO:0001819 synonymous_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.174A>G chr21.hg19:g.47910523A>G NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 9.287911 CCCxTCT COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 2 15.647294 KEEP 0 0 0 52 1646 AA 1 1 0 + 12 60 427 0 0 28.695865 189 60 6905 316 ENST00000400274.1 0.059701 1 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47910659 47910659 __UNKNOWN__ Intron SNP A A G rs9976530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47910659A>G ENST00000400274.1 + 3 516 DIP2A_ENST00000318711.7_Intron|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Intron|DIP2A_ENST00000435722.3_Intron|DIP2A_ENST00000457905.3_Intron|DIP2A_ENST00000417564.2_Intron Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGCAGTGGGGAAGGTGGACGG 0.547 NA A||| 1647 0.328874 0.264 0.2392 5008 , , NA 16765 0.4157 NA 0.4036 False NA ,,, NA NA NA 2504 0.3139 NA NA NA NA 0 A ,,,,,, 1049,2867 156,737,1065 15 16 16 ,,,,,, -0.2 0 21 dbSNP_119 16 3128,5106 650,1828,1639 no intron,intron,intron,intron,intron,intron,intron DIP2A NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2 ,,,,,, 806,2565,2704 GG,GA,AA 37.9888,26.7875,34.3786 ,,,,,, ,,,,,, 47910659 4177,7973 1958 4117 6075 SO:0001627 intron_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.283+27A>G chr21.hg19:g.47910659A>G NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 2.255804 GGGxAGG COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 0 5.714233 KEEP 0 0 0 19 534 AA 0.99986 0.997413 0 + 6 60 217 0 0 15.597381 66 60 2346 95 ENST00000400274.1 0.083333 0.997553 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47957332 47957332 __UNKNOWN__ Intron SNP G G A rs2070432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47957332G>A ENST00000400274.1 + 15 1928 DIP2A_ENST00000318711.7_Intron|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Intron|DIP2A_ENST00000435722.3_Intron|DIP2A_ENST00000457905.3_Intron|DIP2A_ENST00000417564.2_Intron Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGGCCCACTCGCCCTAAGCAT 0.552 NA G||| 1263 0.252196 0.1203 0.1643 5008 , , NA 14557 0.4038 NA 0.3241 False NA ,,, NA NA NA 2504 0.2628 NA NA NA NA 0 G ,,,,,, 660,3694 55,550,1572 62 69 66 ,,,,,, -9.6 0 21 dbSNP_96 66 2681,5901 418,1845,2028 no intron,intron,intron,intron,intron,intron,intron DIP2A NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2 ,,,,,, 473,2395,3600 AA,AG,GG 31.2398,15.1585,25.8271 ,,,,,, ,,,,,, 47957332 3341,9595 2177 4291 6468 SO:0001627 intron_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.1696-27G>A chr21.hg19:g.47957332G>A NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 8.367545 CTCxCCC COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 0 6.92113 KEEP 0 0 0 23 758 GG 0.999892 0.999892 0 + 17 60 451 0 0 28.526328 187 60 5729 326 ENST00000400274.1 0.083333 1 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47959698 47959698 __UNKNOWN__ Intron SNP C C T rs1008549 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47959698C>T ENST00000400274.1 + 17 2142 DIP2A_ENST00000318711.7_Intron|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Intron|DIP2A_ENST00000435722.3_Intron|DIP2A_ENST00000457905.3_Intron|DIP2A_ENST00000417564.2_Intron Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TTCCGATGGCCGCAGGCTGCG 0.562 NA T||| 1486 0.296725 0.2882 0.1844 5008 , , NA 19661 0.3929 NA 0.3241 False NA ,,, NA NA NA 2504 0.2607 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.1910-92C>T chr21.hg19:g.47959698C>T NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 1.906997 GGCxGCA COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 1 2.708153 KEEP 0 0 0 9 293 CC 0.99254 0.992346 0 + 4 60 148 0 0 9.6241 85 60 3036 100 ENST00000400274.1 0.044944 0.999804 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47961711 47961711 __UNKNOWN__ Silent SNP G G A rs2070435 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47961711G>A ENST00000400274.1 + 18 2300 c.2067G>A c.(2065-2067)ctG>ctA p.L689L DIP2A_ENST00000318711.7_Silent_p.L694L|DIP2A_ENST00000427143.2_Silent_p.L629L|DIP2A_ENST00000466639.1_Silent_p.L650L|DIP2A_ENST00000435722.3_Silent_p.L693L|DIP2A_ENST00000457905.3_Silent_p.L693L|DIP2A_ENST00000417564.2_Silent_p.L693L Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 693 NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AAGCAGTCCTGTCGATGAACG 0.478 NA A||| 1940 0.38738 0.5408 0.2147 5008 , , NA 21409 0.4058 NA 0.3439 False NA ,,, NA NA NA 2504 0.3282 NA NA NA NA 0 A ,,,,,, 1869,2021 443,983,519 126 126 126 1887,1950,2067,2079,2079,2079,2079 -2.5 0.7 21 dbSNP_96 126 2643,5651 423,1797,1927 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DIP2A NM_001146114.1,NM_001146115.1,NM_001146116.1,NM_015151.3,NM_206889.2,NM_206890.2,NM_206891.2 ,,,,,, 866,2780,2446 AA,AG,GG 31.8664,48.0463,37.0322 ,,,,,, 629/1111,650/799,689/1568,693/1572,693/890,693/842,693/813 47961711 4512,7672 1945 4147 6092 SO:0001819 synonymous_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.2067G>A chr21.hg19:g.47961711G>A NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 11.149815 CCTxTCG COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 2 14.146487 KEEP 0 0 0 47 1694 GG 1 1 0 + 24 60 861 0 0 62.762187 237 60 8957 400 ENST00000400274.1 0.091954 1 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47976203 47976203 __UNKNOWN__ Intron SNP A A C rs2070428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47976203A>C ENST00000400274.1 + 29 3719 DIP2A_ENST00000318711.7_Intron|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000417564.2_Intron Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) NA NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TTTCTGATGCATTATGGTTAT 0.358 NA A||| 684 0.136581 0.0393 0.0793 5008 , , NA 20957 0.3452 NA 0.1163 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.3486+199A>C chr21.hg19:g.47976203A>C NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 17.989999 TGCxTTA COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 3 17.152426 KEEP 0 0 0 57 1834 AA 1 1 0 + 22 60 813 0 0 53.744868 424 60 15712 630 ENST00000400274.1 0.049327 1 DIP2A 23181 __UNKNOWN__ __UNKNOWN__ 21 47985655 47985655 __UNKNOWN__ Silent SNP C C T rs2248636 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:47985655C>T ENST00000400274.1 + 36 4415 c.4182C>T c.(4180-4182)acC>acT p.T1394T DIP2A_ENST00000318711.7_Silent_p.T1399T|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000417564.2_Silent_p.T1398T Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1398 NA multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981) cell surface (GO:0009986)|nucleus (GO:0005634) catalytic activity (GO:0003824) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) ACAATGCCACCGGGTACTACA 0.572 NA C||| 601 0.120008 0.0363 0.0634 5008 , , NA 16886 0.3254 NA 0.0815 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 C , 198,3842 7,184,1829 45 47 46 4182,4194 -10.9 0.4 21 dbSNP_100 46 565,7805 16,533,3636 no coding-synonymous,coding-synonymous DIP2A NM_001146116.1,NM_015151.3 , 23,717,5465 TT,TC,CC 6.7503,4.901,6.1483 , 1394/1568,1398/1572 47985655 763,11647 2020 4185 6205 SO:0001819 synonymous_variant AF490768 CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1 21q22.3 2010-08-20 2006-01-13 2006-01-13 ENSG00000160305 ENSG00000160305 23181 17217 protein-coding gene gene with protein product 607711 chromosome 21 open reading frame 106 C21orf106 NA Standard NM_015151 NM_015151 NA Approved Dip2, KIAA0184 uc002zjo.2 Q14689 OTTHUMG00000090717 ENST00000400274.1:c.4182C>T chr21.hg19:g.47985655C>T NA A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9 hg19 CCDS54490.1 0.02 4.517139 CACxGGG COVERED NOVEL DIP2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207431.1 0 10.834689 KEEP 0 0 0 36 1246 CC 0.999999 0.999999 0 + 10 60 344 0 0 23.80731 122 60 4230 211 ENST00000400274.1 0.075758 1 S100B 6285 __UNKNOWN__ __UNKNOWN__ 21 48019239 48019239 __UNKNOWN__ 3'UTR SNP G G A rs9722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:48019239G>A ENST00000367071.4 - 0 606 S100B_ENST00000291700.4_3'UTR|S100B_ENST00000397648.1_3'UTR P04271 S100B_HUMAN S100 calcium binding protein B NA NA astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) Olopatadine(DB00768) TTGCATGACCGTCTCTGTTAC 0.468 NA A||| 1355 0.270567 0.4539 0.134 5008 , , NA 20243 0.3333 NA 0.1223 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 A 1795,2611 639.9+/-397.2 357,1081,765 83 81 82 -7.4 0 21 dbSNP_52 82 895,7705 770.3+/-407.7 46,803,3451 no utr-3 S100B NM_006272.2 403,1884,4216 AA,AG,GG 10.407,40.7399,20.6828 48019239 2690,10316 2203 4300 6503 SO:0001624 3_prime_UTR_variant M59488 CCDS13736.1 21q22.3 2013-01-10 2006-09-11 ENSG00000160307 ENSG00000160307 6285 S100 calcium binding proteins, EF-hand domain containing 10500 protein-coding gene gene with protein product 176990 S100 calcium binding protein, beta (neural) NA 2394738, 1998503 Standard NM_006272 NM_006272 NA Approved S100beta uc002zju.1 P04271 OTTHUMG00000090715 ENST00000367071.4:c.*125C>T chr21.hg19:g.48019239G>A NA D3DSN6 hg19 0.02 15.825607 ACCxTCT COVERED NOVEL S100B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000207428.1 1 30.093427 KEEP 0 0 0 100 3319 GG 1 1 0 - 21 60 778 0 0 53.001553 342 60 11478 548 ENST00000367071.4 0.057851 1 S100B 6285 __UNKNOWN__ __UNKNOWN__ 21 48022144 48022144 __UNKNOWN__ Intron SNP T T C rs2839356 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:48022144T>C ENST00000367071.4 - 2 335 S100B_ENST00000291700.4_Intron|S100B_ENST00000397648.1_Intron P04271 S100B_HUMAN S100 calcium binding protein B NA NA astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) Olopatadine(DB00768) ACAGATGGATTTTAAGAGGAG 0.423 NA T||| 653 0.130391 0.0393 0.0879 5008 , , NA 20779 0.3304 NA 0.1083 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 T 251,4155 136.9+/-172.8 9,233,1961 64 57 59 1.8 0 21 dbSNP_100 59 902,7698 194.7+/-240.0 43,816,3441 no intron S100B NM_006272.2 52,1049,5402 CC,CT,TT 10.4884,5.6968,8.8651 48022144 1153,11853 2203 4300 6503 SO:0001627 intron_variant M59488 CCDS13736.1 21q22.3 2013-01-10 2006-09-11 ENSG00000160307 ENSG00000160307 6285 S100 calcium binding proteins, EF-hand domain containing 10500 protein-coding gene gene with protein product 176990 S100 calcium binding protein, beta (neural) NA 2394738, 1998503 Standard NM_006272 NM_006272 NA Approved S100beta uc002zju.1 P04271 OTTHUMG00000090715 ENST00000367071.4:c.138+46A>G chr21.hg19:g.48022144T>C NA D3DSN6 hg19 0.02 6.624573 GATxTTA COVERED NOVEL S100B-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000207428.1 1 5.71386 KEEP 0 0 0 19 542 TT 0.99986 0.99986 0 - 7 60 265 0 0 17.281067 157 60 5519 194 ENST00000367071.4 0.042683 1 PRMT2 3275 __UNKNOWN__ __UNKNOWN__ 21 48084319 48084319 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr21:48084319C>T ENST00000397637.1 + 0 2336 PRMT2_ENST00000397638.2_3'UTR|PRMT2_ENST00000440086.1_3'UTR|PRMT2_ENST00000451211.2_3'UTR|PRMT2_ENST00000458387.2_3'UTR|PRMT2_ENST00000291705.6_3'UTR|PRMT2_ENST00000355680.3_3'UTR P55345 ANM2_HUMAN protein arginine methyltransferase 2 NA NA developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713) NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) CACCTGGCTTCTGCACACTCC 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 93 79 83 NA NA 21 NA 48084319 692 1591 2283 SO:0001624 3_prime_UTR_variant U80213 CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1 21q22.3 2014-06-12 2006-02-16 2006-02-16 ENSG00000160310 ENSG00000160310 3275 2.1.1.125 Protein arginine methyltransferases 5186 protein-coding gene gene with protein product 601961 HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1, HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae) HRMT1L1 NA 9545638 Standard NM_001535 XM_005261111 NA Approved MGC111373 uc002zjy.3 P55345 OTTHUMG00000048806 ENST00000397637.1:c.*80C>T chr21.hg19:g.48084319C>T NA B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2 hg19 CCDS13737.1 0.02 20.380575 CTTxTGC COVERED NOVEL PRMT2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000207401.1 2 25.884971 KEEP 0 0 0 86 3109 CC 1 1 0 + 19 60 663 0 0 39.742519 517 60 19935 775 ENST00000397637.1 0.035448 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16123188 16123188 __UNKNOWN__ IGR SNP G G C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16123188G>C NA NA LA16c-4G1.3 (59952 upstream) : AP000525.9 (24790 downstream) NA NA NA TCACCAGCTGGGCCCCGGTCT 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16123188G>C NA hg19 0.02 -0.333368 CTGxGCC UNCOVERED NOVEL 0 0 2.407796 KEEP 8 0 0 8 275 GG 0 0 0 3 27 111 0 0 7.974261 35 40 1244 58 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16123203 16123203 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16123203T>C NA NA LA16c-4G1.3 (59967 upstream) : AP000525.9 (24775 downstream) NA NA NA CGGTCTCAGGTCCAAGATGGC 0.612 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16123203T>C NA hg19 0.02 -0.421009 AGGxCCA COVERED NOVEL 0 0 3.305825 KEEP 9 0 0 11 295 TT 0.992708 0.941486 0 5 27 189 0 0 14.321496 43 40 1446 74 0.104167 0.948402 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16142107 16142107 __UNKNOWN__ IGR SNP G G C rs371699542 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16142107G>C NA NA LA16c-4G1.3 (78871 upstream) : AP000525.9 (5871 downstream) NA NA NA gggcagaagagtgagactcca 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16142107G>C NA hg19 0.02 -0.105281 AGAxTGA UNCOVERED NOVEL 0 3 3.912618 KEEP 0 0 0 13 462 GG 0.994391 0.139048 0 3 47 120 0 0 10.500813 9 48 344 36 0.25 0.139832 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16142120 16142120 __UNKNOWN__ IGR SNP C C A rs12484805 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16142120C>A NA NA LA16c-4G1.3 (78884 upstream) : AP000525.9 (5858 downstream) NA NA NA agactccattcaaaaaaaTTG 0.418 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16142120C>A NA hg19 0.02 -0.087734 ATTxAAA UNCOVERED NOVEL 0 4 2.708919 KEEP 1 0 0 9 324 CC 0.99257 0.09898 0 3 45 107 0 0 9.478371 7 48 283 27 0.3 0.099721 POTEH 23784 __UNKNOWN__ __UNKNOWN__ 22 16287402 16287402 __UNKNOWN__ Missense_Mutation SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16287402C>T ENST00000343518.6 - 1 535 c.484G>A c.(484-486)Gac>Aac p.D162N NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 162 NA NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 AAAGCGCTGTCGTCGTAGTCT 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 115 124 121 NA NA 22 NA 16287402 2029 3884 5913 SO:0001583 missense AY462874 CCDS74808.1 22q11.1 2013-01-10 2008-11-26 2008-11-26 ENSG00000198062 ENSG00000198062 23784 POTE ankyrin domain containing, Ankyrin repeat domain containing 133 protein-coding gene gene with protein product cancer/testis antigen family 104, member 7 608913 actin, beta-like 1, ANKRD26-like family C, member 3 ACTBL1, A26C3 NA 10591208, 15276201, 21439273 Standard NM_001136213 NM_001136213 NA Approved POTE22, CT104.7 uc010gqp.2 Q6S545 OTTHUMG00000140314 ENST00000343518.6:c.484G>A chr22.hg19:g.16287402C>T ENSP00000340610:p.Asp162Asn NA A2CEK4|A6NCI1|A9Z1W0 hg19 CCDS46658.1 0.02 1.907224 TGTxGTC COVERED . . . . . . . . . . . 7.311 0.614941 0.14129 . . ENSG00000198062 ENST00000359587;ENST00000343518;ENST00000355872 T 0.25912 1.77 0.554 -0.987 0.10249 . . . . . T 0.19805 0.0476 L 0.53249 1.67 0.09310 N 1 B 0.24576 0.106 B 0.15484 0.013 T 0.21518 -1.0243 8 0.46703 T 0.11 . . . . . 162 Q6S545 POTEH_HUMAN N 125;162;162 ENSP00000340610:D162N ENSP00000340610:D162N D - 1 0 POTEH 14667402 0.000000 0.05858 0.001000 0.08648 0.050000 0.14768 -0.504000 0.06375 -0.285000 0.09089 0.152000 0.16155 GAC NOVEL POTEH-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000276918.4 0 2.407566 KEEP 12 0 0 8 266 CC 0.99257 0.992376 0 - 21 49 743 0 0 63.206118 68 50 2466 115 ENST00000343518.6 0.235955 0.999804 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16308264 16308264 __UNKNOWN__ IGR SNP C C T rs2308989 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16308264C>T NA NA POTEH (20327 upstream) : LA16c-2F2.8 (64816 downstream) NA NA NA atcaggagttcgagactagcc 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16308264C>T NA hg19 0.02 -0.078958 GTTxGAG UNCOVERED NOVEL 0 5 3.009342 KEEP 9 0 0 10 327 CC 0 0 0 4 25 154 0 0 15.23242 3 50 105 24 0.571429 0.077336 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16350688 16350688 __UNKNOWN__ IGR SNP T T A rs369080368 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16350688T>A NA NA POTEH (62751 upstream) : LA16c-2F2.8 (22392 downstream) NA NA NA ATATATGTCCTTCTCTTTGGT 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16350688T>A NA hg19 0.02 4.613478 TCCxTCT COVERED NOVEL 0 0 2.343125 KEEP 84 1 35 20 668 TT 0.99257 0.992569 0 10 25 380 0 0 27.787463 111 48 4196 253 0.082645 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16353399 16353399 __UNKNOWN__ IGR SNP C C G rs200011917 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16353399C>G NA NA POTEH (65462 upstream) : LA16c-2F2.8 (19681 downstream) NA NA NA GAGATGACCTCTCATTTTGCC 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16353399C>G NA hg19 0.02 2.394179 CCTxTCA UNCOVERED NOVEL 0 1 4.213986 KEEP 95 0 0 14 521 CC 0 0 0 13 27 514 0 0 42.262251 66 50 2548 192 0.164557 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16404880 16404880 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16404880G>T NA NA LA16c-2F2.8 (27825 upstream) : LA16c-23H5.4 (12388 downstream) NA NA NA GAACAGCCTCGGTTTTTGCAC 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16404880G>T NA hg19 0.02 2.161834 CTCxGTT COVERED NOVEL 0 0 3.310377 KEEP 10 0 0 11 365 GG 0.993072 0.981099 0 4 25 146 0 0 10.254027 52 50 1796 94 0.071429 0.987943 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16414069 16414069 __UNKNOWN__ IGR SNP G G A rs200695329 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16414069G>A NA NA LA16c-2F2.8 (37014 upstream) : LA16c-23H5.4 (3199 downstream) NA NA NA GGAAGTTCTAGTGTGGAGGCG 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16414069G>A NA hg19 0.02 5.853329 CTAxTGT COVERED NOVEL 0 4 6.621716 KEEP 36 0 0 22 795 GG 0.99986 0.99986 0 6 25 213 0 0 13.040503 155 50 5813 266 0.037267 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16414379 16414379 __UNKNOWN__ IGR SNP C C T rs61049050 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16414379C>T NA NA LA16c-2F2.8 (37324 upstream) : LA16c-23H5.4 (2889 downstream) NA NA NA CCGGAGCACTCGGCAGTGACA 0.617 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16414379C>T NA hg19 0.02 14.053866 ACTxGGC COVERED NOVEL 0 2 9.864232 KEEP 91 1 35 45 1483 CC 1 1 0 9 27 342 0 0 21.321118 264 50 8847 512 0.032967 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 16887715 16887715 __UNKNOWN__ IGR SNP C C T rs2379841 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:16887715C>T NA NA AP000539.2 (311524 upstream) : KB-67B5.17 (114233 downstream) NA NA NA ataaaactaactgttattgag 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.16887715C>T NA hg19 0.02 4.412058 TAAxTGT COVERED NOVEL 0 0 2.407955 KEEP 20 0 0 8 293 CC 0.99257 0.99257 0 15 40 548 0 0 41.459434 121 60 4554 192 0.110294 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 17055458 17055458 __UNKNOWN__ IGR SNP G G A rs35893428 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17055458G>A NA NA KB-67B5.17 (47331 upstream) : KCNMB3P1 (6508 downstream) NA NA NA TAGGCAAGTCGAGGCAATGGA 0.418 NA g||| 916 0.182907 0.0348 0.2637 5008 , , NA 17726 0.2351 NA 0.2594 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.17055458G>A NA hg19 0.02 12.278914 GTCxAGG COVERED NOVEL 0 2 8.728393 KEEP 4 0 0 29 1012 GG 0.999957 0.999957 0 9 60 328 0 0 19.232676 316 60 11273 447 0.027692 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 17058482 17058482 __UNKNOWN__ IGR SNP T T C rs3732991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17058482T>C NA NA KB-67B5.17 (50355 upstream) : KCNMB3P1 (3484 downstream) NA NA NA TTCAGTGTGATTCAGTCCTCA 0.333 NA t||| 1096 0.21885 0.1611 0.2637 5008 , , NA 14280 0.2401 NA 0.2654 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.17058482T>C NA hg19 0.02 17.794603 TGAxTCA COVERED NOVEL 0 2 9.630033 KEEP 29 0 0 32 1046 TT 0.999997 0.999997 0 16 60 591 0 0 37.022295 418 60 15403 566 0.036866 1 GAB4 128954 __UNKNOWN__ __UNKNOWN__ 22 17443263 17443263 __UNKNOWN__ 3'UTR SNP T T A rs3948637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17443263T>A ENST00000400588.1 - 0 2192 NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 NA NA breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) GGGCCTTGGGTCCCCGGGTCA 0.547 NA T||| 1788 0.357029 0.1778 0.4308 5008 , , NA 19660 0.4276 NA 0.3579 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK057252 CCDS42976.1 22q11.2 2013-01-10 ENSG00000215568 ENSG00000215568 128954 Pleckstrin homology (PH) domain containing 18325 protein-coding gene gene with protein product NA Standard XM_372882 NM_001037814 NA Approved uc002zlw.3 Q2WGN9 OTTHUMG00000149992 ENST00000400588.1:c.*360A>T chr22.hg19:g.17443263T>A NA hg19 CCDS42976.1 0.02 7.714131 GGGxCCC COVERED NOVEL GAB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315426.1 1 7.521491 KEEP 0 0 0 25 766 TT 0.999931 0.999931 0 - 8 60 259 0 0 15.017003 202 60 6970 280 ENST00000400588.1 0.038095 1 GAB4 128954 __UNKNOWN__ __UNKNOWN__ 22 17449115 17449115 __UNKNOWN__ Intron SNP G G C rs5748769 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17449115G>C ENST00000400588.1 - 5 1131 GAB4_ENST00000523144.1_Intron NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 NA NA breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGGGGGATGTGCTTTTAGTTC 0.507 NA G||| 805 0.160743 0.1589 0.1527 5008 , , NA 21230 0.2847 NA 0.0616 False NA ,,, NA NA NA 2504 0.1431 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK057252 CCDS42976.1 22q11.2 2013-01-10 ENSG00000215568 ENSG00000215568 128954 Pleckstrin homology (PH) domain containing 18325 protein-coding gene gene with protein product NA Standard XM_372882 NM_001037814 NA Approved uc002zlw.3 Q2WGN9 OTTHUMG00000149992 ENST00000400588.1:c.1023+72C>G chr22.hg19:g.17449115G>C NA hg19 CCDS42976.1 0.02 4.31198 TGTxCTT COVERED NOVEL GAB4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315426.1 1 2.407813 KEEP 0 0 0 8 284 GG 0.99257 0.99257 0 - 5 60 190 0 0 11.958654 139 60 5286 164 ENST00000400588.1 0.034722 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 17495914 17495914 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17495914C>T NA NA GAB4 (6802 upstream) : CECR7 (21545 downstream) NA NA NA agcaatcttcccacctcagcc 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.17495914C>T NA hg19 0.02 -0.078961 TTCxCAC UNCOVERED NOVEL 0 5 3.310953 KEEP 4 0 0 11 401 CC 0.992708 0.076772 0 2 44 75 0 0 6.383874 7 60 273 34 0.222222 0.077336 IL17RA 23765 __UNKNOWN__ __UNKNOWN__ 22 17586583 17586583 __UNKNOWN__ Intron SNP C C G rs2241047 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17586583C>G ENST00000319363.6 + 10 1076 NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A NA NA cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) interleukin-17 receptor activity (GO:0030368) endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GCCAGGCAGACAAGGCTGAAC 0.652 NA C||| 2785 0.55611 0.4584 0.4942 5008 , , NA 16884 0.7837 NA 0.4732 False NA ,,, NA NA NA 2504 0.5828 NA NA NA NA 0 C 660,724 148,364,180 47 39 41 -0.6 0 22 dbSNP_98 41 1581,1601 388,805,398 no intron IL17RA NM_014339.5 536,1169,578 GG,GC,CC 49.6857,47.6879,49.0802 17586583 2241,2325 692 1591 2283 SO:0001627 intron_variant U58917 CCDS13739.1 22q11.1 2014-09-17 2006-04-26 2006-04-26 ENSG00000177663 ENSG00000177663 23765 Interleukins and interleukin receptors, CD molecules 5985 protein-coding gene gene with protein product 605461 interleukin 17 receptor IL17R NA 9367539, 10591208 Standard NM_014339 NM_014339 NA Approved hIL-17R, IL-17RA, CDw217, CD217 uc002zly.4 Q96F46 OTTHUMG00000150026 ENST00000319363.6:c.943+91C>G chr22.hg19:g.17586583C>G NA O43844|Q20WK1 hg19 CCDS13739.1 0.02 2.117498 AGAxAAG COVERED NOVEL IL17RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315820.1 0 3.310384 KEEP 0 0 0 11 374 CC 0.993072 0.986819 0 + 6 60 217 0 0 15.91659 58 60 2225 82 ENST00000319363.6 0.09375 0.993703 IL17RA 23765 __UNKNOWN__ __UNKNOWN__ 22 17589297 17589297 __UNKNOWN__ Silent SNP G G A rs2229151 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17589297G>A ENST00000319363.6 + 13 1321 c.1188G>A c.(1186-1188)ctG>ctA p.L396L NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 396 SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}. NA cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) interleukin-17 receptor activity (GO:0030368) endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ACGTGGTCCTGAAATTCGCCC 0.642 NA G||| 562 0.11222 0.0015 0.1268 5008 , , NA 18213 0.2996 NA 0.0109 False NA ,,, NA NA NA 2504 0.1626 NA NA NA NA 0 G 23,4383 27.2+/-55.0 0,23,2180 67 63 64 1188 -11.6 0 22 dbSNP_98 64 47,8553 31.2+/-83.2 1,45,4254 no coding-synonymous IL17RA NM_014339.5 1,68,6434 AA,AG,GG 0.5465,0.522,0.5382 396/867 17589297 70,12936 2203 4300 6503 SO:0001819 synonymous_variant U58917 CCDS13739.1 22q11.1 2014-09-17 2006-04-26 2006-04-26 ENSG00000177663 ENSG00000177663 23765 Interleukins and interleukin receptors, CD molecules 5985 protein-coding gene gene with protein product 605461 interleukin 17 receptor IL17R NA 9367539, 10591208 Standard NM_014339 NM_014339 NA Approved hIL-17R, IL-17RA, CDw217, CD217 uc002zly.4 Q96F46 OTTHUMG00000150026 ENST00000319363.6:c.1188G>A chr22.hg19:g.17589297G>A NA O43844|Q20WK1 hg19 CCDS13739.1 0.02 8.726711 CCTxAAA COVERED NOVEL IL17RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315820.1 3 9.925518 KEEP 0 0 0 33 1122 GG 0.999998 0.999998 0 + 13 60 449 0 0 30.002752 195 60 7425 277 ENST00000319363.6 0.0625 1 IL17RA 23765 __UNKNOWN__ __UNKNOWN__ 22 17589794 17589794 __UNKNOWN__ Missense_Mutation SNP C C A rs12484684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17589794C>A ENST00000319363.6 + 13 1818 c.1685C>A c.(1684-1686)cCg>cAg p.P562Q NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 562 NA P -> Q (in dbSNP:rs12484684). cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) interleukin-17 receptor activity (GO:0030368) endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CTGCGGAGCCCGGGCGGCAGG 0.657 NA C||| 566 0.113019 0.0015 0.1282 5008 , , NA 14477 0.2976 NA 0.0109 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 C GLN/PRO 20,4376 0,20,2178 16 17 17 1685 5.1 1 22 dbSNP_120 17 46,8544 1,44,4250 yes missense IL17RA NM_014339.5 76 1,64,6428 AA,AC,CC 0.5355,0.455,0.5082 probably-damaging 562/867 17589794 66,12920 2198 4295 6493 SO:0001583 missense U58917 CCDS13739.1 22q11.1 2014-09-17 2006-04-26 2006-04-26 ENSG00000177663 ENSG00000177663 23765 Interleukins and interleukin receptors, CD molecules 5985 protein-coding gene gene with protein product 605461 interleukin 17 receptor IL17R NA 9367539, 10591208 Standard NM_014339 NM_014339 NA Approved hIL-17R, IL-17RA, CDw217, CD217 uc002zly.4 Q96F46 OTTHUMG00000150026 ENST00000319363.6:c.1685C>A chr22.hg19:g.17589794C>A ENSP00000320936:p.Pro562Gln NA O43844|Q20WK1 hg19 CCDS13739.1 0.02 6.83308 GCCxGGG COVERED 223 0.1021062271062271 2 0.0040650406504065045 35 0.09668508287292818 174 0.3041958041958042 12 0.0158311345646438 C 15.79 2.936774 0.52972 0.00455 0.005355 ENSG00000177663 ENST00000425985;ENST00000319363 T 0.07021 3.23 5.1 5.1 0.69264 . 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 M 0.77103 2.36 0.20873 P 0.999836352 D;D 0.89917 1.0;1.0 D;D 0.91635 0.999;0.993 T 0.08027 -1.0742 9 0.62326 D 0.03 -32.6092 18.8689 0.92305 0.0:1.0:0.0:0.0 rs12484684 510;562 D3YTB4;Q96F46 .;I17RA_HUMAN Q 510;562 ENSP00000320936:P562Q ENSP00000320936:P562Q P + 2 0 IL17RA 15969794 1.000000 0.71417 0.995000 0.50966 0.018000 0.09664 4.583000 0.60964 2.530000 0.85305 0.561000 0.74099 CCG NOVEL IL17RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315820.1 2 8.727325 KEEP 0 0 0 29 990 CC 0.999997 0.999997 0 + 13 60 474 0 0 33.9179 150 60 5156 217 ENST00000319363.6 0.079755 1 IL17RA 23765 __UNKNOWN__ __UNKNOWN__ 22 17591089 17591089 __UNKNOWN__ 3'UTR SNP G G A rs2895332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17591089G>A ENST00000319363.6 + 0 3113 NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A NA NA cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) interleukin-17 receptor activity (GO:0030368) endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ccgaggacacgttaaacgaac 0.567 NA A||| 3661 0.73103 0.8389 0.7161 5008 , , NA 18382 0.7123 NA 0.6501 False NA ,,, NA NA NA 2504 0.6984 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U58917 CCDS13739.1 22q11.1 2014-09-17 2006-04-26 2006-04-26 ENSG00000177663 ENSG00000177663 23765 Interleukins and interleukin receptors, CD molecules 5985 protein-coding gene gene with protein product 605461 interleukin 17 receptor IL17R NA 9367539, 10591208 Standard NM_014339 NM_014339 NA Approved hIL-17R, IL-17RA, CDw217, CD217 uc002zly.4 Q96F46 OTTHUMG00000150026 ENST00000319363.6:c.*379G>A chr22.hg19:g.17591089G>A NA O43844|Q20WK1 hg19 CCDS13739.1 0.02 2.211936 CACxTTA COVERED NOVEL IL17RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315820.1 1 3.912314 KEEP 0 0 0 13 439 GG 0.994391 0.993264 0 + 6 60 231 0 0 16.812659 71 60 2587 99 ENST00000319363.6 0.077922 0.998867 IL17RA 23765 __UNKNOWN__ __UNKNOWN__ 22 17594772 17594772 __UNKNOWN__ 3'UTR SNP T T A rs12484781 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17594772T>A ENST00000319363.6 + 0 6796 NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A NA NA cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) interleukin-17 receptor activity (GO:0030368) endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) cctcatggggtCCTGGCAAGC 0.607 NA T||| 815 0.16274 0.0023 0.2939 5008 , , NA 15517 0.3462 NA 0.0716 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U58917 CCDS13739.1 22q11.1 2014-09-17 2006-04-26 2006-04-26 ENSG00000177663 ENSG00000177663 23765 Interleukins and interleukin receptors, CD molecules 5985 protein-coding gene gene with protein product 605461 interleukin 17 receptor IL17R NA 9367539, 10591208 Standard NM_014339 NM_014339 NA Approved hIL-17R, IL-17RA, CDw217, CD217 uc002zly.4 Q96F46 OTTHUMG00000150026 ENST00000319363.6:c.*4062T>A chr22.hg19:g.17594772T>A NA O43844|Q20WK1 hg19 CCDS13739.1 0.02 5.583961 GGGxCCT COVERED NOVEL IL17RA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000315820.1 1 3.941475 KEEP 0 1 22 21 625 TT 0.999879 0.999879 0 + 10 60 343 0 0 22.590043 159 60 5284 237 ENST00000319363.6 0.059172 1 CECR6 27439 __UNKNOWN__ __UNKNOWN__ 22 17597462 17597462 __UNKNOWN__ 3'UTR SNP G G A rs971768 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17597462G>A ENST00000331437.3 - 0 4681 CECR6_ENST00000399875.1_3'UTR NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 NA NA haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) AGGAGCAGGCGGTTCTCGAGA 0.517 NA G||| 832 0.166134 0.0023 0.2911 5008 , , NA 17355 0.3611 NA 0.0696 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF307451 CCDS13740.1, CCDS54494.1 22q11.2 2008-06-12 ENSG00000183307 ENSG00000183307 27439 1844 protein-coding gene gene with protein product NA 11381032 Standard NM_031890 NM_031890 NA Approved uc002zmb.2 Q9BXQ6 OTTHUMG00000030471 ENST00000331437.3:c.*2819C>T chr22.hg19:g.17597462G>A NA A8MYY1 hg19 CCDS13740.1 0.02 9.529702 GGCxGTT COVERED NOVEL CECR6-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000075359.4 1 13.844178 KEEP 0 0 0 46 1564 GG 1 1 0 - 11 60 418 0 0 28.1118 208 60 7126 327 ENST00000331437.3 0.050228 1 CECR6 27439 __UNKNOWN__ __UNKNOWN__ 22 17600293 17600293 __UNKNOWN__ Silent SNP G G A rs13056456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17600293G>A ENST00000331437.3 - 1 1850 c.1725C>T c.(1723-1725)gcC>gcT p.A575A CECR6_ENST00000399875.1_Silent_p.A220A NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 575 NA haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) AATTCTGAGAGGCCACAGCCA 0.587 NA G||| 821 0.163938 0.0023 0.2867 5008 , , NA 16822 0.3552 NA 0.0457 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 G , 70,4332 1,68,2132 27 25 26 660,1725 -0.5 1 22 dbSNP_121 26 383,8217 6,371,3923 no coding-synonymous,coding-synonymous CECR6 NM_001163079.1,NM_031890.3 , 7,439,6055 AA,AG,GG 4.4535,1.5902,3.4841 , 220/224,575/579 17600293 453,12549 2201 4300 6501 SO:0001819 synonymous_variant AF307451 CCDS13740.1, CCDS54494.1 22q11.2 2008-06-12 ENSG00000183307 ENSG00000183307 27439 1844 protein-coding gene gene with protein product NA 11381032 Standard NM_031890 NM_031890 NA Approved uc002zmb.2 Q9BXQ6 OTTHUMG00000030471 ENST00000331437.3:c.1725C>T chr22.hg19:g.17600293G>A NA A8MYY1 hg19 CCDS13740.1 0.02 11.799527 AGAxGCC COVERED NOVEL CECR6-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000075359.4 2 12.410778 KEEP 0 2 65 64 2296 GG 1 1 0 - 17 60 634 0 0 43.739464 261 60 9727 423 ENST00000331437.3 0.061151 1 CECR6 27439 __UNKNOWN__ __UNKNOWN__ 22 17600497 17600497 __UNKNOWN__ Silent SNP G G A rs3827295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17600497G>A ENST00000331437.3 - 1 1646 c.1521C>T c.(1519-1521)ctC>ctT p.L507L CECR6_ENST00000399875.1_Silent_p.L152L NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 507 NA haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CCCGGCAGCCGAGGAAGAAGA 0.706 NA G||| 824 0.164537 0.0023 0.2939 5008 , , NA 14018 0.3532 NA 0.0457 False NA ,,, NA NA NA 2504 0.2198 NA NA NA NA 0 G , 56,4102 0,56,2023 4 5 5 456,1521 -9.3 0.7 22 dbSNP_107 5 313,7923 2,309,3807 no coding-synonymous,coding-synonymous CECR6 NM_001163079.1,NM_031890.3 , 2,365,5830 AA,AG,GG 3.8004,1.3468,2.9772 , 152/224,507/579 17600497 369,12025 2079 4118 6197 SO:0001819 synonymous_variant AF307451 CCDS13740.1, CCDS54494.1 22q11.2 2008-06-12 ENSG00000183307 ENSG00000183307 27439 1844 protein-coding gene gene with protein product NA 11381032 Standard NM_031890 NM_031890 NA Approved uc002zmb.2 Q9BXQ6 OTTHUMG00000030471 ENST00000331437.3:c.1521C>T chr22.hg19:g.17600497G>A NA A8MYY1 hg19 CCDS13740.1 0.02 10.386471 GCCxAGG COVERED NOVEL CECR6-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000075359.4 2 11.438091 KEEP 0 3 88 69 2309 GG 1 1 0 - 10 60 354 0 0 21.827451 247 60 8692 430 ENST00000331437.3 0.038911 1 CECR6 27439 __UNKNOWN__ __UNKNOWN__ 22 17600977 17600977 __UNKNOWN__ Silent SNP G G A rs5994165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17600977G>A ENST00000331437.3 - 1 1166 c.1041C>T c.(1039-1041)ttC>ttT p.F347F CECR6_ENST00000399875.1_5'UTR NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 347 NA haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CCGTGGTGCCGAAGGGCGCGC 0.667 NA g||| 2388 0.476837 0.4856 0.5101 5008 , , NA 12678 0.495 NA 0.3847 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 , 2078,2324 511,1056,634 57 44 49 ,1041 -2.8 1 22 dbSNP_114 49 3195,5397 588,2019,1689 no utr-5,coding-synonymous CECR6 NM_001163079.1,NM_031890.3 , 1099,3075,2323 AA,AG,GG 37.1858,47.2058,40.5803 , ,347/579 17600977 5273,7721 2201 4296 6497 SO:0001819 synonymous_variant AF307451 CCDS13740.1, CCDS54494.1 22q11.2 2008-06-12 ENSG00000183307 ENSG00000183307 27439 1844 protein-coding gene gene with protein product NA 11381032 Standard NM_031890 NM_031890 NA Approved uc002zmb.2 Q9BXQ6 OTTHUMG00000030471 ENST00000331437.3:c.1041C>T chr22.hg19:g.17600977G>A NA A8MYY1 hg19 CCDS13740.1 0.02 10.777779 GCCxAAG COVERED NOVEL CECR6-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000075359.4 0 15.649318 KEEP 0 0 0 52 1793 GG 1 1 0 - 10 60 364 0 0 22.263634 282 70 10127 434 ENST00000331437.3 0.034247 1 CECR6 27439 __UNKNOWN__ __UNKNOWN__ 22 17601358 17601358 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17601358G>A ENST00000331437.3 - 1 785 c.660C>T c.(658-660)atC>atT p.I220I CECR6_ENST00000399875.1_Intron NM_031890.3 NP_114096.1 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 220 NA haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CGGTGACGGCGATGAGGTACA 0.706 NA NA NA NA NA NA NA NA NA NA NA 0 14 15 14 NA NA 22 NA 17601358 2185 4279 6464 SO:0001819 synonymous_variant AF307451 CCDS13740.1, CCDS54494.1 22q11.2 2008-06-12 ENSG00000183307 ENSG00000183307 27439 1844 protein-coding gene gene with protein product NA 11381032 Standard NM_031890 NM_031890 NA Approved uc002zmb.2 Q9BXQ6 OTTHUMG00000030471 ENST00000331437.3:c.660C>T chr22.hg19:g.17601358G>A NA A8MYY1 hg19 CCDS13740.1 0.02 13.525454 GGCxATG COVERED NOVEL CECR6-001 KNOWN basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000075359.4 2 15.648924 KEEP 0 0 0 52 1757 GG 1 1 0 - 9 60 336 0 0 20.258248 298 60 10777 461 ENST00000331437.3 0.029316 1 CECR5 27440 __UNKNOWN__ __UNKNOWN__ 22 17622267 17622267 __UNKNOWN__ Intron SNP C C T rs2286955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:17622267C>T ENST00000399852.3 - 3 164 CECR5_ENST00000155674.5_Intron|CECR5_ENST00000336737.4_Intron Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 NA NA mitochondrion (GO:0005739) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CCAACAAGCCCAGTAGAGCCC 0.642 NA T||| 584 0.116613 0.0681 0.0331 5008 , , NA 17865 0.2192 NA 0.0437 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF273270 CCDS13741.1, CCDS33595.1 22q11.2 2008-06-12 ENSG00000069998 ENSG00000069998 27440 1843 protein-coding gene gene with protein product NA 11381032 Standard NM_017829 NM_017829 NA Approved uc002zmf.3 Q9BXW7 OTTHUMG00000150071 ENST00000399852.3:c.161-144G>A chr22.hg19:g.17622267C>T NA B2RCK5|Q9BXW8|Q9NWA8|Q9NX41 hg19 0.02 4.147899 GCCxAGT COVERED NOVEL CECR5-003 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000316101.1 0 5.116378 KEEP 0 0 0 17 581 CC 0.999366 0.999366 0 - 6 60 215 0 0 13.613116 134 60 4874 171 ENST00000399852.3 0.042857 1 ATP6V1E1 529 __UNKNOWN__ __UNKNOWN__ 22 18075053 18075053 __UNKNOWN__ 3'UTR SNP G G A rs7414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18075053G>A ENST00000253413.5 - 0 1250 ATP6V1E1_ENST00000399796.2_3'UTR NM_001696.3 NP_001687.1 P36543 VATE1_HUMAN ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 NA NA ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178) ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_epithelial(15;0.206) Lung(27;0.19) ACTGCTGGAAGGAGTGGTGTG 0.463 NA G||| 605 0.120807 0.2103 0.0893 5008 , , NA 20476 0.1399 NA 0.0477 False NA ,,, NA NA NA 2504 0.0777 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X76228 CCDS13745.1, CCDS42977.1, CCDS42978.1 22q11.2 2010-04-21 2006-01-13 2002-06-21 ENSG00000131100 ENSG00000131100 529 3.6.3.14 ATPases / V-type 857 protein-coding gene gene with protein product 108746 ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD, ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1 ATP6E, ATP6V1E NA 8004105, 8250920 Standard NM_001696 NM_001696 NA Approved P31, Vma4, ATP6E2 uc002zmr.1 P36543 OTTHUMG00000059320 ENST00000253413.5:c.*387C>T chr22.hg19:g.18075053G>A NA A8MUE4|A8MUN4 hg19 CCDS13745.1 0.02 5.81043 GAAxGAG COVERED NOVEL ATP6V1E1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000131790.3 2 5.718119 KEEP 0 0 0 19 657 GG 0.99986 0.99986 0 - 7 60 248 0 0 14.970534 193 60 7313 242 ENST00000253413.5 0.035 1 MICAL3 57553 __UNKNOWN__ __UNKNOWN__ 22 18273600 18273600 __UNKNOWN__ Silent SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18273600T>C ENST00000441493.2 - 32 6259 c.5907A>G c.(5905-5907)tcA>tcG p.S1969S XXbac-B461K10.4_ENST00000476405.1_RNA NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1969 NA actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634) actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GCGCCACCAGTGAGTCTCTCT 0.567 NA NA NA NA NA NA NA NA NA NA NA 0 47 50 49 NA NA 22 NA 18273600 2093 4234 6327 SO:0001819 synonymous_variant AB037785 CCDS46659.1, CCDS46660.1, CCDS46661.1 22q11.21 2013-03-26 2013-03-26 ENSG00000243156 ENSG00000243156 57553 24694 protein-coding gene gene with protein product 608882 NA 12110185 Standard NM_015241 NA Approved KIAA0819 uc002zng.4 Q7RTP6 OTTHUMG00000150067 ENST00000441493.2:c.5907A>G chr22.hg19:g.18273600T>C NA B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3 hg19 CCDS46659.1 0.02 19.759102 CAGxGAG COVERED . . . . . . . . . . T 12.51 1.959208 0.34565 . . ENSG00000093100 ENST00000252134 . . . 5.0 -1.22 0.09494 . . . . . T 0.39937 0.1097 . . . 0.80722 D 1 . . . . . . T 0.24333 -1.0163 4 . . . . 1.539 0.02551 0.3512:0.2332:0.2996:0.116 . . . . R 951 . . H - 2 0 XXbac-B461K10.4 16653600 0.979000 0.34478 0.980000 0.43619 0.849000 0.48306 0.198000 0.17217 -0.304000 0.08843 -1.262000 0.01453 CAC NOVEL MICAL3-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000447351.1 3 22.868759 KEEP 0 0 0 76 2389 TT 1 1 0 - 14 60 469 0 0 26.928339 446 60 15833 678 ENST00000441493.2 0.030435 1 PEX26 55670 __UNKNOWN__ __UNKNOWN__ 22 18573912 18573912 __UNKNOWN__ 3'UTR SNP T T C rs361777 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18573912T>C ENST00000329627.7 + 0 4195 NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 NA NA protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046) integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777) ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403) breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 gggcctacagtgtgtgctgcc 0.527 NA T||| 2040 0.407348 0.3812 0.3199 5008 , , NA 13753 0.6052 NA 0.2475 False NA ,,, NA NA NA 2504 0.4652 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB089678 CCDS13750.1, CCDS56221.1 22q11.21 2008-08-26 2008-08-26 ENSG00000215193 ENSG00000215193 55670 22965 protein-coding gene gene with protein product 608666 peroxisome biogenesis factor 26 NA 12717447, 12851857 Standard NM_017929 NM_017929 NA Approved FLJ20695 uc002znp.4 Q7Z412 OTTHUMG00000149970 ENST00000329627.7:c.*3071T>C chr22.hg19:g.18573912T>C NA F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0 hg19 CCDS13750.1 0.02 13.642062 CAGxGTG COVERED NOVEL PEX26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314644.3 3 26.775381 KEEP 0 0 0 89 2672 TT 1 1 0 + 13 60 469 0 0 29.761831 293 60 10376 484 ENST00000329627.7 0.042484 1 PEX26 55670 __UNKNOWN__ __UNKNOWN__ 22 18575712 18575712 __UNKNOWN__ 3'UTR SNP G G C rs362141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18575712G>C ENST00000329627.7 + 0 5995 NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 NA NA protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046) integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777) ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403) breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GTCCCAAAAAGAGAAAAAAAT 0.274 NA G||| 2105 0.420327 0.3775 0.4409 5008 , , NA 15828 0.5992 NA 0.2445 False NA ,,, NA NA NA 2504 0.4601 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB089678 CCDS13750.1, CCDS56221.1 22q11.21 2008-08-26 2008-08-26 ENSG00000215193 ENSG00000215193 55670 22965 protein-coding gene gene with protein product 608666 peroxisome biogenesis factor 26 NA 12717447, 12851857 Standard NM_017929 NM_017929 NA Approved FLJ20695 uc002znp.4 Q7Z412 OTTHUMG00000149970 ENST00000329627.7:c.*4871G>C chr22.hg19:g.18575712G>C NA F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0 hg19 CCDS13750.1 0.02 2.300642 AAAxAGA COVERED NOVEL PEX26-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000314644.3 1 4.514417 KEEP 0 0 0 15 509 GG 0.99649 0.991591 0 + 5 60 157 0 0 10.615057 62 60 2322 83 ENST00000329627.7 0.074627 0.995084 TUBA8 51807 __UNKNOWN__ __UNKNOWN__ 22 18609642 18609642 __UNKNOWN__ Silent SNP C C T rs362203 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18609642C>T ENST00000316027.6 + 4 1047 c.699C>T c.(697-699)aaC>aaT p.N233N TUBA8_ENST00000330423.3_Silent_p.N299N NM_001193414.1 NP_001180343.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 299 NA microtubule-based process (GO:0007017)|protein polymerization (GO:0051258) cytoplasm (GO:0005737)|microtubule (GO:0005874) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 TTGAGCCCAACAGCCAGATGG 0.577 NA c||| 825 0.164736 0.0408 0.2421 5008 , , NA 20969 0.4137 NA 0.0358 False NA ,,, NA NA NA 2504 0.1534 NA NA NA NA 0 C , 173,4233 5,163,2035 112 94 100 699,897 3.2 1 22 dbSNP_79 100 284,8316 3,278,4019 no coding-synonymous,coding-synonymous TUBA8 NM_001193414.1,NM_018943.2 , 8,441,6054 TT,TC,CC 3.3023,3.9265,3.5138 , 233/384,299/450 18609642 457,12549 2203 4300 6503 SO:0001819 synonymous_variant AJ245922 CCDS13751.1, CCDS54495.1 22q11 2005-06-11 ENSG00000183785 ENSG00000183785 51807 Tubulins 12410 protein-coding gene gene with protein product 605742 TUBAL2 NA 10772959, 10591208 Standard NM_018943 NM_001193414 NA Approved uc002znv.2 Q9NY65 OTTHUMG00000150097 ENST00000316027.6:c.699C>T chr22.hg19:g.18609642C>T NA B2RCX2|B3KPW9|B4DWG3|Q2M3N4 hg19 CCDS54495.1 0.02 18.591739 CAAxAGC COVERED NOVEL TUBA8-002 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000316233.2 1 19.864398 KEEP 0 0 0 66 2325 CC 1 1 0 + 14 60 512 0 0 30.426594 465 60 17694 692 ENST00000316027.6 0.029228 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 18628436 18628436 __UNKNOWN__ IGR SNP T T C rs5746519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18628436T>C NA NA TUBA8 (13938 upstream) : USP18 (4229 downstream) NA NA NA aaggatccagttggggatctc 0.483 NA t||| 729 0.145567 0.0053 0.2118 5008 , , NA 17111 0.4196 NA 0.007 False NA ,,, NA NA NA 2504 0.1483 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.18628436T>C NA hg19 0.02 9.109261 CAGxTGG COVERED NOVEL 0 0 15.648017 KEEP 0 0 0 52 1672 TT 1 1 0 7 60 263 0 0 16.318867 203 60 7251 327 0.033333 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 18628632 18628632 __UNKNOWN__ IGR SNP C C T rs5747493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18628632C>T NA NA TUBA8 (14134 upstream) : USP18 (4033 downstream) NA NA NA gggaacagcacagaagtgata 0.547 NA c||| 1383 0.276158 0.3949 0.2911 5008 , , NA 17683 0.4276 NA 0.0368 False NA ,,, NA NA NA 2504 0.1953 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.18628632C>T NA hg19 0.02 10.534219 GCAxAGA COVERED NOVEL 0 0 26.485062 KEEP 0 0 0 88 3106 CC 1 1 0 12 60 443 0 0 28.206364 285 60 10963 484 0.040404 1 USP18 11274 __UNKNOWN__ __UNKNOWN__ 22 18640300 18640300 __UNKNOWN__ Intron SNP G G A rs2252257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18640300G>A ENST00000215794.7 + 2 324 NM_017414.3 NP_059110.2 Q9UMW8 UBP18_HUMAN ubiquitin specific peptidase 18 NA NA cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511) cytosol (GO:0005829)|nucleus (GO:0005634) ubiquitin-specific protease activity (GO:0004843) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 TCTAATTCTTGCCTACCCGCA 0.488 NA OREG0026287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) a||| 1960 0.391374 0.4039 0.4366 5008 , , NA 20985 0.6329 NA 0.1481 False NA ,,, NA NA NA 2504 0.3436 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ243526 CCDS13752.1 22q11.2 2008-04-11 2005-08-08 ENSG00000184979 ENSG00000184979 11274 Ubiquitin-specific peptidases 12616 protein-coding gene gene with protein product 607057 ubiquitin specific protease 18 NA 12838346 Standard NM_017414 NA Approved uc002zny.3 Q9UMW8 OTTHUMG00000150104 ENST00000215794.7:c.-106-25G>A chr22.hg19:g.18640300G>A 727 Q53Y90|Q6IAD9|Q9NY71 hg19 CCDS13752.1 0.02 8.375804 CTTxCCT COVERED NOVEL USP18-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316368.1 1 15.643549 KEEP 0 0 0 52 1846 GG 1 1 0 + 10 60 351 0 0 21.686831 238 60 9261 378 ENST00000215794.7 0.040323 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 18883922 18883922 __UNKNOWN__ IGR SNP G G C rs5747920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:18883922G>C NA NA AC008132.13 (35360 upstream) : DGCR6 (9618 downstream) NA NA NA gggattacaggcctgagccaa 0.388 NA G||| 1950 0.389377 0.2133 0.428 5008 , , NA 27809 0.4782 NA 0.4493 False NA ,,, NA NA NA 2504 0.4468 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.18883922G>C NA hg19 0.02 -0.263193 CAGxCCT UNCOVERED NOVEL 0 3 3.310889 KEEP 16 0 0 11 397 GG 0 0 0 2 60 74 0 0 8.35405 0 0 0 62 1 0.739671 DGCR2 9993 __UNKNOWN__ __UNKNOWN__ 22 19048436 19048436 __UNKNOWN__ Intron SNP G G A rs62221717 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19048436G>A ENST00000263196.7 - 5 873 DGCR2_ENST00000545799.1_Missense_Mutation_p.R217C|DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000537045.1_Intron NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 NA NA cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887) integral component of membrane (GO:0016021) carbohydrate binding (GO:0030246) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CATAGTAAGCGTCTATGTACC 0.473 NA G||| 425 0.0848642 0.0401 0.1542 5008 , , NA 19964 0.0863 NA 0.1143 False NA ,,, NA NA NA 2504 0.0644 NA NA NA NA 0 G ,,, 78,1674 1,76,799 29 26 27 ,,, 0.4 0 22 dbSNP_129 27 463,3519 24,415,1552 no intron,intron,intron,intron DGCR2 NM_001173533.1,NM_001173534.1,NM_001184781.1,NM_005137.2 ,,, 25,491,2351 AA,AG,GG 11.6273,4.4521,9.4349 ,,, ,,, 19048436 541,5193 876 1991 2867 SO:0001627 intron_variant D79985 CCDS33598.1, CCDS54496.1 22q11.21 2008-06-12 ENSG00000070413 ENSG00000070413 9993 2845 protein-coding gene gene with protein product integral membrane protein DGCR2 600594 NA 7655455, 8630060 Standard NM_005137 NM_005137 NA Approved KIAA0163, LAN, IDD, DGS-C, SEZ-12 uc002zoq.1 P98153 OTTHUMG00000150141 ENST00000263196.7:c.625+2278C>T chr22.hg19:g.19048436G>A NA A6NIB5|A8K6K5|B5TY34|B7Z935 hg19 CCDS33598.1 0.02 6.618864 AGCxTCT COVERED 187 0.08562271062271062 16 0.032520325203252036 42 0.11602209944751381 42 0.07342657342657342 87 0.11477572559366754 G 11.71 1.718359 0.30503 0.044521 0.116273 ENSG00000070413 ENST00000545799 D 0.97303 -4.33 0.427 0.427 0.16489 . . . . . T 0.41627 0.1167 . . . 0.80722 P 0.0 . . . . . . T 0.71965 -0.4433 4 0.87932 D 0 . . . . rs62221717 . . . C 217 ENSP00000445069:R217C ENSP00000445069:R217C R - 1 0 DGCR2 17428436 0.000000 0.05858 0.001000 0.08648 0.008000 0.06430 -0.322000 0.08007 0.458000 0.26988 0.467000 0.42956 CGC NOVEL DGCR2-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316504.1 0 12.338438 KEEP 0 0 0 41 1386 GG 1 1 0 - 7 60 271 0 0 17.284834 192 60 6756 307 ENST00000263196.7 0.035176 1 TBX1 6899 __UNKNOWN__ __UNKNOWN__ 22 19753449 19753449 __UNKNOWN__ Silent SNP A A G rs41298840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19753449A>G ENST00000332710.4 + 8 1062 c.933A>G c.(931-933)gcA>gcG p.A311A TBX1_ENST00000359500.3_Silent_p.A311A|TBX1_ENST00000329705.7_Silent_p.A311A NM_080647.1 NP_542378.1 O43435 TBX1_HUMAN T-box 1 311 NA angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644) nucleus (GO:0005634) DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565) breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) GGCCCGGCGCACTGCCGCTCA 0.761 NA G||| 1155 0.230631 0.0219 0.2781 5008 , , NA 6756 0.4712 NA 0.2187 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 G ,, 34,3150 0,34,1558 3 3 3 933,933,933 -1.2 0.8 22 dbSNP_127 3 520,5402 8,504,2449 no coding-synonymous,coding-synonymous,coding-synonymous TBX1 NM_005992.1,NM_080646.1,NM_080647.1 ,, 8,538,4007 GG,GA,AA 8.7808,1.0678,6.0839 ,, 311/373,311/399,311/496 19753449 554,8552 1592 2961 4553 SO:0001819 synonymous_variant AF012131 CCDS13765.1, CCDS13766.1, CCDS13767.1 22q11.21 2014-09-17 ENSG00000184058 ENSG00000184058 6899 T-boxes 11592 protein-coding gene gene with protein product 602054 velocardiofacial syndrome VCF NA 9268629, 23000736 Standard NM_080647 NM_080646 NA Approved CATCH22 uc002zqa.1 O43435 OTTHUMG00000150421 ENST00000332710.4:c.933A>G chr22.hg19:g.19753449A>G NA C6G493|C6G494|O43436|Q96RJ2 hg19 CCDS13767.1 0.02 3.924368 CGCxCTG COVERED NOVEL TBX1-003 PUTATIVE basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318034.1 0 9.925184 KEEP 0 0 0 33 935 AA 0.999998 0.999996 0 + 8 60 266 0 0 17.665007 112 60 3707 170 ENST00000332710.4 0.066667 0.999999 TXNRD2 10587 __UNKNOWN__ __UNKNOWN__ 22 19907099 19907099 __UNKNOWN__ Missense_Mutation SNP C C A rs5748469 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19907099C>A ENST00000400521.1 - 3 202 c.196G>T c.(196-198)Gcc>Tcc p.A66S TXNRD2_ENST00000535882.1_Missense_Mutation_p.A65S|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A36S|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A36S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.A66S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A65S NM_006440.3 NP_006431.2 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 66 NA A -> S (in dbSNP:rs5748469). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9923614, ECO:0000269|Ref.6}. cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) TCCACCACGGCCACCTTCCTT 0.627 NA C||| 2419 0.483027 0.2171 0.5346 5008 , , NA 19907 0.869 NA 0.3549 False NA ,,, NA NA NA 2504 0.5399 NA NA NA NA 0 C SER/ALA 929,3231 108,713,1259 24 28 27 196 4 1 22 dbSNP_114 27 2791,5635 481,1829,1903 yes missense TXNRD2 NM_006440.3 99 589,2542,3162 AA,AC,CC 33.1237,22.3317,29.5567 possibly-damaging 66/525 19907099 3720,8866 2080 4213 6293 SO:0001583 missense AF106697 CCDS42981.1, CCDS63402.1 22q11.21 2014-09-17 ENSG00000184470 ENSG00000184470 10587 18155 protein-coding gene gene with protein product thioredoxin reductase beta, selenoprotein Z 606448 NA 9923614, 10215850, 11012661 Standard NM_006440 NM_006440 NA Approved TR, TRXR2, TR3 uc021wlj.1 Q9NNW7 OTTHUMG00000149975 ENST00000400521.1:c.196G>T chr22.hg19:g.19907099C>A ENSP00000383365:p.Ala66Ser NA O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8 hg19 CCDS42981.1 0.02 8.144136 CGGxCAC COVERED 1069 0.48946886446886445 131 0.266260162601626 169 0.46685082872928174 500 0.8741258741258742 269 0.3548812664907652 C 18.73 3.687251 0.68157 0.223317 0.331237 ENSG00000184470 ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000400519;ENST00000535882;ENST00000542719;ENST00000334363 T;T;T;T;T;T;T 0.59502 0.26;0.26;0.26;0.26;0.26;0.26;0.7 3.96 3.96 0.45880 Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1); 0.000000 0.85682 D 0.000000 T 0.00012 0.0000 H 0.98466 4.24 0.18873 P 0.9999810493 D;D;D 0.69078 0.99;0.997;0.99 D;D;D 0.77557 0.961;0.99;0.961 T 0.40608 -0.9554 9 0.46703 T 0.11 . 15.9753 0.80060 0.0:1.0:0.0:0.0 rs5748469;rs17818088;rs60622037;rs5748469 66;66;65 Q9NNW7;E7EWK1;D3YTF9 TRXR2_HUMAN;.;. S 36;66;66;43;65;65;36;66 ENSP00000383362:A36S;ENSP00000383365:A66S;ENSP00000383369:A43S;ENSP00000383363:A65S;ENSP00000439314:A65S;ENSP00000439570:A36S;ENSP00000334451:A66S ENSP00000334451:A66S A - 1 0 TXNRD2 18287099 1.000000 0.71417 1.000000 0.80357 0.862000 0.49288 2.560000 0.45896 2.492000 0.84095 0.557000 0.71058 GCC NOVEL TXNRD2-003 KNOWN NMD_exception|basic|appris_candidate_longest|CCDS|seleno protein_coding NA protein_coding OTTHUMT00000314903.3 0 6.692574 KEEP 0 2 65 45 1606 CC 1 1 0 - 8 60 283 0 0 17.076522 220 60 7949 329 ENST00000400521.1 0.035088 1 COMT 1312 __UNKNOWN__ __UNKNOWN__ 22 19950235 19950235 __UNKNOWN__ Silent SNP C C T rs4633 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19950235C>T ENST00000361682.6 + 3 568 c.186C>T c.(184-186)caC>caT p.H62H COMT_ENST00000406520.3_Silent_p.H62H|COMT_ENST00000403184.1_Silent_p.H62H|COMT_ENST00000403710.1_Silent_p.H62H|COMT_ENST00000449653.1_Silent_p.H12H|COMT_ENST00000407537.1_Silent_p.H12H NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase 62 NA cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171) p.H62H(1) kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323) TCCTGAACCACGTGCTGCAGC 0.622 NA C||| 1861 0.371605 0.2935 0.3804 5008 , , NA 17719 0.2698 NA 0.499 False NA ,,, NA NA NA 2504 0.4448 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C ,,, 1486,2918 474.1+/-356.9 245,996,961 73 65 68 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 186,186,186,36 -11 0 22 dbSNP_52 68 4497,4103 589.2+/-392.5 1174,2149,977 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous COMT NM_000754.3,NM_001135161.1,NM_001135162.1,NM_007310.2 ,,, 1419,3145,1938 TT,TC,CC 47.7093,33.7421,46.0089 ,,, 62/272,62/272,62/272,12/222 19950235 5983,7021 2202 4300 6502 SO:0001819 synonymous_variant CCDS13770.1, CCDS46663.1 22q11.21 2012-10-02 ENSG00000093010 ENSG00000093010 1312 2.1.1.6 2228 protein-coding gene gene with protein product 116790 NA 1572656 Standard NM_000754 NM_000754 NA Approved uc002zqu.3 P21964 OTTHUMG00000150529 ENST00000361682.6:c.186C>T chr22.hg19:g.19950235C>T NA A8MPV9|Q6IB07|Q6ICE6|Q9BWC7 hg19 CCDS13770.1 0.02 12.860629 CCAxGTG COVERED NOVEL COMT-011 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318936.2 2 40.062373 KEEP 0 1 31 144 4981 CC 1 1 0 + 13 60 482 0 0 30.675467 314 60 10862 605 ENST00000361682.6 0.039755 1 COMT 1312 __UNKNOWN__ __UNKNOWN__ 22 19951271 19951271 __UNKNOWN__ Missense_Mutation SNP G G A rs4680 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19951271G>A ENST00000361682.6 + 4 854 c.472G>A c.(472-474)Gtg>Atg p.V158M COMT_ENST00000406520.3_Missense_Mutation_p.V158M|COMT_ENST00000403184.1_Missense_Mutation_p.V158M|COMT_ENST00000403710.1_Missense_Mutation_p.V158M|COMT_ENST00000449653.1_Missense_Mutation_p.V108M|COMT_ENST00000493893.1_3'UTR|COMT_ENST00000407537.1_Missense_Mutation_p.V108M NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase 158 NA V -> M (in allele COMT*2; associated with low enzyme activity and thermolability; may increase the tendency to develop high blood pressure and abdominal obesity; dbSNP:rs4680). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:18442637, ECO:0000269|PubMed:8807664, ECO:0000269|Ref.10, ECO:0000269|Ref.8}. cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171) kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323) TTTCGCTGGCGTGAAGGACAA 0.637 NA G||| 1849 0.369209 0.2806 0.3775 5008 , , NA 18556 0.2798 NA 0.5 False NA ,,, NA NA NA 2504 0.4407 NA NA NA NA 0 GRCh37 CM960420 COMT M rs4680 G MET/VAL,MET/VAL,MET/VAL,MET/VAL 1387,3019 452.0+/-349.9 211,965,1027 43 37 39 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 472,472,472,322 -0.8 0.9 22 dbSNP_52 39 4485,4115 583.9+/-391.6 1165,2155,980 yes missense,missense,missense,missense COMT NM_000754.3,NM_001135161.1,NM_001135162.1,NM_007310.2 21,21,21,21 1376,3120,2007 AA,AG,GG 47.8488,31.4798,45.1484 benign,benign,benign,benign 158/272,158/272,158/272,108/222 19951271 5872,7134 2203 4300 6503 SO:0001583 missense CCDS13770.1, CCDS46663.1 22q11.21 2012-10-02 ENSG00000093010 ENSG00000093010 1312 2.1.1.6 2228 protein-coding gene gene with protein product 116790 NA 1572656 Standard NM_000754 NM_000754 NA Approved uc002zqu.3 P21964 OTTHUMG00000150529 ENST00000361682.6:c.472G>A chr22.hg19:g.19951271G>A ENSP00000354511:p.Val158Met NA A8MPV9|Q6IB07|Q6ICE6|Q9BWC7 hg19 CCDS13770.1 0.02 11.049893 GGCxTGA COVERED 850|850 0.3891941391941392|0.3891941391941392 152|152 0.3089430894308943|0.3089430894308943 141|141 0.38950276243093923|0.38950276243093923 166|166 0.2902097902097902|0.2902097902097902 391|391 0.5158311345646438|0.5158311345646438 G|G 10.19|10.19 1.280712|1.280712 0.23392|0.23392 0.314798|0.314798 0.521512|0.521512 ENSG00000093010|ENSG00000093010 ENST00000428707|ENST00000361682;ENST00000403184;ENST00000403710;ENST00000407537;ENST00000412786;ENST00000406520;ENST00000449653 .|T;T;T;T;T;T;T .|0.73047 .|-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71 5.33|5.33 -0.75|-0.75 0.11080|0.11080 .|. .|0.525832 .|0.18544 .|N .|0.138117 T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.52823|0.52823 1.66|1.66 0.51482|0.51482 P|P 7.199999999996098E-5|7.199999999996098E-5 .|B;P .|0.37781 .|0.016;0.608 .|B;B .|0.26693 .|0.05;0.072 T|T 0.46048|0.46048 -0.9219|-0.9219 4|8 .|. .|. .|. -20.9392|-20.9392 6.5527|6.5527 0.22444|0.22444 0.1202:0.4346:0.3752:0.07|0.1202:0.4346:0.3752:0.07 rs4680;rs165688;rs1131157;rs2070104;rs3177905;rs3190784;rs3747070;rs11544671;rs17295216;rs17349704;rs17818178;rs17849308;rs17850006;rs58002978;rs4680|rs4680;rs165688;rs1131157;rs2070104;rs3177905;rs3190784;rs3747070;rs11544671;rs17295216;rs17349704;rs17818178;rs17849308;rs17850006;rs58002978;rs4680 .|158;158 .|P21964;E7EUU8 .|COMT_HUMAN;. H|M 17|158;158;158;108;158;158;108 .|ENSP00000354511:V158M;ENSP00000383966:V158M;ENSP00000385917:V158M;ENSP00000384654:V108M;ENSP00000403958:V158M;ENSP00000385150:V158M;ENSP00000416778:V108M .|. R|V +|+ 2|1 0|0 COMT|COMT 18331271|18331271 0.006000|0.006000 0.16342|0.16342 0.947000|0.947000 0.38551|0.38551 0.006000|0.006000 0.05464|0.05464 -0.132000|-0.132000 0.10467|0.10467 0.033000|0.033000 0.15463|0.15463 -0.839000|-0.839000 0.03059|0.03059 CGT|GTG NOVEL COMT-011 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318936.2 2 36.708277 KEEP 0 0 0 122 4217 GG 1 1 0 + 13 60 490 0 0 32.815917 246 60 8581 467 ENST00000361682.6 0.050193 1 COMT 1312 __UNKNOWN__ __UNKNOWN__ 22 19952501 19952501 __UNKNOWN__ Intron SNP C C T rs165737 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19952501C>T ENST00000361682.6 + 5 997 COMT_ENST00000406520.3_Intron|COMT_ENST00000403184.1_3'UTR|COMT_ENST00000403710.1_Intron|COMT_ENST00000449653.1_Intron|COMT_ENST00000407537.1_Intron NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase NA NA cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171) kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323) TCACGGCCTCCCCACCTGGTG 0.637 NA C||| 1032 0.20607 0.2171 0.1585 5008 , , NA 17686 0.1478 NA 0.3052 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13770.1, CCDS46663.1 22q11.21 2012-10-02 ENSG00000093010 ENSG00000093010 1312 2.1.1.6 2228 protein-coding gene gene with protein product 116790 NA 1572656 Standard NM_000754 NM_000754 NA Approved uc002zqu.3 P21964 OTTHUMG00000150529 ENST00000361682.6:c.615+679C>T chr22.hg19:g.19952501C>T NA A8MPV9|Q6IB07|Q6ICE6|Q9BWC7 hg19 CCDS13770.1 0.02 9.265739 CTCxCCA COVERED NOVEL COMT-011 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318936.2 1 25.279203 KEEP 0 0 0 84 2914 CC 1 1 0 + 11 60 416 0 0 27.282509 238 60 8749 415 ENST00000361682.6 0.044177 1 COMT 1312 __UNKNOWN__ __UNKNOWN__ 22 19952561 19952561 __UNKNOWN__ Intron SNP G G A rs165774 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:19952561G>A ENST00000361682.6 + 5 997 COMT_ENST00000406520.3_Intron|COMT_ENST00000403184.1_3'UTR|COMT_ENST00000403710.1_Intron|COMT_ENST00000449653.1_Intron|COMT_ENST00000407537.1_Intron NM_000754.3 NP_000745.1 P21964 COMT_HUMAN catechol-O-methyltransferase NA NA cellular response to phosphate starvation (GO:0016036)|dopamine catabolic process (GO:0042420)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|learning (GO:0007612)|methylation (GO:0032259)|multicellular organismal reproductive process (GO:0048609)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of smooth muscle cell proliferation (GO:0048662)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|positive regulation of homocysteine metabolic process (GO:0050668)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) catechol O-methyltransferase activity (GO:0016206)|magnesium ion binding (GO:0000287)|O-methyltransferase activity (GO:0008171) kidney(1)|lung(1)|ovary(1)|prostate(1)|stomach(1) 5 Colorectal(54;0.0993) Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Methyldopa(DB00968)|Micafungin(DB01141)|S-Adenosylmethionine(DB00118)|Testosterone Propionate(DB01420)|Tolcapone(DB00323) GTTAGCAGCCGGACTAGGAGC 0.642 NA G||| 1017 0.203075 0.208 0.1571 5008 , , NA 17724 0.1468 NA 0.3052 False NA ,,, NA NA NA 2504 0.182 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13770.1, CCDS46663.1 22q11.21 2012-10-02 ENSG00000093010 ENSG00000093010 1312 2.1.1.6 2228 protein-coding gene gene with protein product 116790 NA 1572656 Standard NM_000754 NM_000754 NA Approved uc002zqu.3 P21964 OTTHUMG00000150529 ENST00000361682.6:c.615+739G>A chr22.hg19:g.19952561G>A NA A8MPV9|Q6IB07|Q6ICE6|Q9BWC7 hg19 CCDS13770.1 0.02 10.595087 GCCxGAC COVERED NOVEL COMT-011 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318936.2 0 11.907216 KEEP 0 2 61 61 2092 GG 1 1 0 + 8 60 300 0 0 18.363569 248 60 8657 376 ENST00000361682.6 0.03125 1 TRMT2A 27037 __UNKNOWN__ __UNKNOWN__ 22 20100922 20100922 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:20100922A>C ENST00000252136.7 - 9 1821 TRMT2A_ENST00000439169.2_Intron|TRMT2A_ENST00000492988.1_Intron|TRMT2A_ENST00000403707.3_Intron|TRMT2A_ENST00000404751.3_Intron NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) NA NA RNA processing (GO:0006396) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173) breast(2)|endometrium(2)|lung(5) 9 GGCTGCCCCCATCCCCACCCC 0.667 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC017184 CCDS13774.1, CCDS58793.1 22q11.21 2014-02-12 2012-06-12 ENSG00000099899 ENSG00000099899 27037 24974 protein-coding gene gene with protein product HpaII tiny fragments locus 9C 611151 NA 9417108, 18075473 Standard NM_022727 NM_022727 NA Approved HTF9C uc002zrl.2 Q8IZ69 OTTHUMG00000150454 ENST00000252136.7:c.1432+32T>G chr22.hg19:g.20100922A>C NA D3DX25|Q32P57|Q96ME6|Q9H732 hg19 CCDS13774.1 0.02 0.716943 CCCxTCC COVERED NOVEL TRMT2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000318168.3 0 8.045311 KEEP 0 4 20 35 871 AA 1 0.99911 0 - 9 60 149 0 0 7.4795 70 60 1974 154 ENST00000252136.7 0.113924 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 20296829 20296829 __UNKNOWN__ IGR SNP C C T rs58105389 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:20296829C>T NA NA RTN4R (37559 upstream) : DGCR6L (4969 downstream) NA NA NA GGACTACGTGCTGGAGGAGCT 0.612 NA .||| 13 0.00259585 0.0015 0.0029 5008 , , NA 22556 0.0 NA 0.006 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.20296829C>T NA hg19 0.02 4.03236 GTGxTGG COVERED NOVEL 0 2 7.257698 KEEP 1 1 22 32 1190 CC 0.999998 0.999996 0 12 45 391 0 0 27.991122 106 60 4143 205 0.101695 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 20325906 20325906 __UNKNOWN__ IGR SNP G G A rs9618793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:20325906G>A NA NA XXbac-B444P24.14 (17180 upstream) : XXbac-B33L19.3 (421 downstream) NA NA NA atgtatcttggctcaagcctg 0.393 NA .||| 1799 0.359225 0.3654 0.3689 5008 , , NA 21040 0.2649 NA 0.4115 False NA ,,, NA NA NA 2504 0.3875 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.20325906G>A NA hg19 0.02 -0.1316 TTGxCTC UNCOVERED NOVEL 0 1 2.70875 KEEP 5 0 0 9 311 GG 0 0 0 2 40 73 0 0 6.595637 4 60 146 32 0.333333 0.229173 ZNF74 7625 __UNKNOWN__ __UNKNOWN__ 22 20755527 20755527 __UNKNOWN__ Intron SNP G G A rs2283787 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:20755527G>A ENST00000403682.3 + 3 662 ZNF74_ENST00000356671.5_Intron|ZNF74_ENST00000400451.2_Intron|ZNF74_ENST00000357502.5_Intron|ZNF74_ENST00000405993.1_Intron NM_001256523.1 NP_001243452.1 Q16587 ZNF74_HUMAN zinc finger protein 74 NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGGGCCTGGAGAGCTGCAGCA 0.597 NA G||| 522 0.104233 0.0008 0.1945 5008 , , NA 18749 0.3393 NA 0.002 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G 21,4069 0,21,2024 20 21 21 -1.6 0 22 dbSNP_100 21 32,8388 0,32,4178 no intron ZNF74 NM_003426.2 0,53,6202 AA,AG,GG 0.38,0.5134,0.4237 20755527 53,12457 2045 4210 6255 SO:0001627 intron_variant X71623 CCDS42982.1, CCDS58794.1 22q11.2 2013-01-08 2006-05-12 ENSG00000185252 ENSG00000185252 7625 Zinc fingers, C2H2-type, - 13144 protein-coding gene gene with protein product 194548 zinc finger protein 74 (Cos52) NA 1639391, 10591208 Standard NM_003426 NM_003426 NA Approved Cos52, Zfp520, ZNF520 uc010gsm.4 Q16587 OTTHUMG00000150687 ENST00000403682.3:c.162-40G>A chr22.hg19:g.20755527G>A NA B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07 hg19 CCDS58794.1 0.02 4.393301 GGAxAGC COVERED NOVEL ZNF74-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319645.2 0 10.534877 KEEP 0 0 0 35 1293 GG 0.999999 0.999993 0 + 7 60 251 0 0 17.073247 105 60 3854 188 ENST00000403682.3 0.0625 0.999995 ZNF74 7625 __UNKNOWN__ __UNKNOWN__ 22 20759672 20759672 __UNKNOWN__ Missense_Mutation SNP G G A rs3747076 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:20759672G>A ENST00000403682.3 + 4 764 c.263G>A c.(262-264)gGa>gAa p.G88E ZNF74_ENST00000356671.5_Missense_Mutation_p.E117K|ZNF74_ENST00000400451.2_Missense_Mutation_p.E117K|ZNF74_ENST00000357502.5_Missense_Mutation_p.G122E|ZNF74_ENST00000405993.1_Missense_Mutation_p.E85K NM_001256523.1 NP_001243452.1 Q16587 ZNF74_HUMAN zinc finger protein 74 0 KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}. NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TACAGAATGGGAGCTGAAGGC 0.552 NA G||| 521 0.104034 0.0008 0.1931 5008 , , NA 17619 0.3393 NA 0.002 False NA ,,, NA NA NA 2504 0.0429 NA NA NA NA 0 G LYS/GLU 20,3736 0,20,1858 86 92 90 349 -1.2 0 22 dbSNP_107 90 31,8165 0,31,4067 yes missense ZNF74 NM_003426.2 56 0,51,5925 AA,AG,GG 0.3782,0.5325,0.4267 benign 117/645 20759672 51,11901 1878 4098 5976 SO:0001583 missense X71623 CCDS42982.1, CCDS58794.1 22q11.2 2013-01-08 2006-05-12 ENSG00000185252 ENSG00000185252 7625 Zinc fingers, C2H2-type, - 13144 protein-coding gene gene with protein product 194548 zinc finger protein 74 (Cos52) NA 1639391, 10591208 Standard NM_003426 NM_003426 NA Approved Cos52, Zfp520, ZNF520 uc010gsm.4 Q16587 OTTHUMG00000150687 ENST00000403682.3:c.263G>A chr22.hg19:g.20759672G>A ENSP00000384750:p.Gly88Glu NA B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07 hg19 CCDS58794.1 0.02 4.21886 TGGxAGC COVERED 268|268 0.1227106227106227|0.1227106227106227 1|1 0.0020325203252032522|0.0020325203252032522 56|56 0.15469613259668508|0.15469613259668508 209|209 0.36538461538461536|0.36538461538461536 2|2 0.002638522427440633|0.002638522427440633 G|G 5.006|5.006 0.186850|0.186850 0.09547|0.09547 0.005325|0.005325 0.003782|0.003782 ENSG00000185252|ENSG00000185252 ENST00000400451;ENST00000420626;ENST00000356671;ENST00000405993|ENST00000403682;ENST00000357502 T;T;T;T|. 0.60548|. 3.29;0.18;3.29;5.71|. 3.75|3.75 -1.23|-1.23 0.09465|0.09465 .|. 1.713730|. 0.03623|. N|. 0.236674|. T|T 0.00012|0.00012 0.0000|0.0000 L|L 0.35542|0.35542 1.07|1.07 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.04013|. 0.001|. T|T 0.40850|0.40850 -0.9541|-0.9541 9|5 0.40728|0.87932 T|D 0.16|0 -10.703|-10.703 6.5234|6.5234 0.22287|0.22287 0.3095:0.1337:0.5568:0.0|0.3095:0.1337:0.5568:0.0 rs3747076;rs60859267;rs3747076|rs3747076;rs60859267;rs3747076 117|. Q16587|. ZNF74_HUMAN|. K|E 117;14;117;85|88;122 ENSP00000383301:E117K;ENSP00000397011:E14K;ENSP00000349098:E117K;ENSP00000385855:E85K|. ENSP00000349098:E117K|ENSP00000350101:G122E E|G +|+ 1|2 0|0 ZNF74|ZNF74 19089672|19089672 0.101000|0.101000 0.21875|0.21875 0.000000|0.000000 0.03702|0.03702 0.000000|0.000000 0.00434|0.00434 0.567000|0.567000 0.23608|0.23608 -0.409000|-0.409000 0.07553|0.07553 -1.886000|-1.886000 0.00541|0.00541 GAG|GGA NOVEL ZNF74-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319645.2 0 9.029128 KEEP 0 0 0 30 1066 GG 0.999997 0.999997 0 + 6 60 222 0 0 14.469341 126 60 4662 211 ENST00000403682.3 0.045455 1 ZNF74 7625 __UNKNOWN__ __UNKNOWN__ 22 20760043 20760043 __UNKNOWN__ 3'UTR SNP G G A rs541359649 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:20760043G>A ENST00000403682.3 + 0 1135 ZNF74_ENST00000356671.5_Silent_p.G240G|ZNF74_ENST00000400451.2_Silent_p.G240G|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Silent_p.G208G NM_001256523.1 NP_001243452.1 Q16587 ZNF74_HUMAN zinc finger protein 74 NA NA multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) actin cytoskeleton (GO:0015629)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ggcagcgcggggcgggcgccg 0.711 NA G||| 2 0.000399361 0.0 0.0 5008 , , NA 14601 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 11 16 14 NA NA 22 NA 20760043 2002 4110 6112 SO:0001624 3_prime_UTR_variant X71623 CCDS42982.1, CCDS58794.1 22q11.2 2013-01-08 2006-05-12 ENSG00000185252 ENSG00000185252 7625 Zinc fingers, C2H2-type, - 13144 protein-coding gene gene with protein product 194548 zinc finger protein 74 (Cos52) NA 1639391, 10591208 Standard NM_003426 NM_003426 NA Approved Cos52, Zfp520, ZNF520 uc010gsm.4 Q16587 OTTHUMG00000150687 ENST00000403682.3:c.*97G>A chr22.hg19:g.20760043G>A NA B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07 hg19 CCDS58794.1 0.02 10.105572 CGGxGCG COVERED NOVEL ZNF74-002 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319645.2 1 36.418526 KEEP 0 0 0 121 4365 GG 1 1 0 + 8 60 286 0 0 16.553166 280 60 10391 533 ENST00000403682.3 0.027778 1 PI4KA 5297 __UNKNOWN__ __UNKNOWN__ 22 21068878 21068878 __UNKNOWN__ Intron SNP C C T rs2329478 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21068878C>T ENST00000255882.6 - 46 5477 PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000414196.3_Intron NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CGCACGCGGACGCGTGGAAGT 0.562 NA c||| 2202 0.439696 0.5174 0.4769 5008 , , NA 19815 0.4772 NA 0.3996 False NA ,,, NA NA NA 2504 0.3108 NA NA NA GBM(136;1332 1831 3115 23601 50806) NA 0 C , 2102,2304 570.4+/-382.8 511,1080,612 80 73 75 , -5 0 22 dbSNP_100 75 3258,5342 484.5+/-371.4 647,1964,1689 no intron,intron PI4KA NM_002650.2,NM_058004.3 , 1158,3044,2301 TT,TC,CC 37.8837,47.7077,41.2117 , , 21068878 5360,7646 2203 4300 6503 SO:0001627 intron_variant L36151 CCDS33603.1, CCDS33603.2 22q11.21 2011-05-25 2007-08-14 2007-08-02 ENSG00000241973 ENSG00000241973 5297 8983 protein-coding gene gene with protein product 600286 PIK4CA NA 7961848, 8662589 Standard NM_058004 NM_002650 NA Approved PI4K-ALPHA, pi4K230 uc002zsz.5 P42356 OTTHUMG00000167440 ENST00000255882.6:c.5390+37G>A chr22.hg19:g.21068878C>T NA Q7Z625|Q9UPG2 hg19 CCDS33603.2 0.02 6.609567 GGAxGCG COVERED NOVEL PI4KA-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000075723.5 0 18.055721 KEEP 0 0 0 60 2052 CC 1 1 0 - 8 60 273 0 0 16.729379 192 60 6666 325 ENST00000255882.6 0.04 1 SERPIND1 3053 __UNKNOWN__ __UNKNOWN__ 22 21141300 21141300 __UNKNOWN__ Silent SNP T T C rs4675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21141300T>C ENST00000215727.5 + 5 1729 c.1446T>C c.(1444-1446)caT>caC p.H482H PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.H482H NM_000185.3 NP_000176.2 P05546 HEP2_HUMAN serpin peptidase inhibitor, clade D (heparin cofactor), member 1 482 NA blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867) p.H482H(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407)|Sulodexide(DB06271) TCTACGAGCATCGCACCAGCT 0.597 NA C||| 2612 0.521565 0.615 0.5504 5008 , , NA 18393 0.5645 NA 0.4742 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C , 2570,1836 535.3+/-374.2 758,1054,391 105 84 91 1446, 1.5 1 22 dbSNP_52 91 3870,4730 608.6+/-395.4 884,2102,1314 no coding-synonymous,intron SERPIND1,PI4KA NM_000185.3,NM_058004.3 , 1642,3156,1705 CC,CT,TT 45.0,41.6704,49.5156 , 482/500, 21141300 6440,6566 2203 4300 6503 SO:0001819 synonymous_variant M12849 CCDS13783.1 22q11.21 2014-02-18 2005-08-18 ENSG00000099937 ENSG00000099937 3053 Serine (or cysteine) peptidase inhibitors 4838 protein-coding gene gene with protein product heparin cofactor II 142360 serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1 HCF2 NA 1671335, 24172014 Standard NM_000185 XM_005261597 NA Approved HC-II, HLS2, HC2, D22S673 uc002ztb.1 P05546 OTTHUMG00000150755 ENST00000215727.5:c.1446T>C chr22.hg19:g.21141300T>C NA B2RAI1|D3DX34|Q6IBZ5 hg19 CCDS13783.1 0.02 6.868318 GCAxCGC COVERED NOVEL SERPIND1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319961.1 0 8.295314 KEEP 0 2 73 53 1668 TT 1 1 0 + 8 60 289 0 0 18.951339 151 60 5400 266 ENST00000215727.5 0.050314 1 PI4KA 5297 __UNKNOWN__ __UNKNOWN__ 22 21167787 21167787 __UNKNOWN__ Silent SNP G G A rs165854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21167787G>A ENST00000255882.6 - 8 950 c.864C>T c.(862-864)tgC>tgT p.C288C PI4KA_ENST00000572273.1_Silent_p.C230C NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 230 NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524) p.C230C(1) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CATCGGGCAAGCAGGAGGCTG 0.522 NA G||| 2461 0.491414 0.6036 0.5144 5008 , , NA 16352 0.5486 NA 0.4254 False NA ,,, NA NA NA 2504 0.3323 NA NA NA GBM(136;1332 1831 3115 23601 50806) NA 1 Substitution - coding silent(1) stomach(1) G 2509,1897 628.1+/-395.0 717,1075,411 58 60 59 690 5.3 0.1 22 dbSNP_79 59 3494,5106 510.8+/-377.6 718,2058,1524 no coding-synonymous PI4KA NM_058004.3 1435,3133,1935 AA,AG,GG 40.6279,43.0549,46.1556 230/2045 21167787 6003,7003 2203 4300 6503 SO:0001819 synonymous_variant L36151 CCDS33603.1, CCDS33603.2 22q11.21 2011-05-25 2007-08-14 2007-08-02 ENSG00000241973 ENSG00000241973 5297 8983 protein-coding gene gene with protein product 600286 PIK4CA NA 7961848, 8662589 Standard NM_058004 NM_002650 NA Approved PI4K-ALPHA, pi4K230 uc002zsz.5 P42356 OTTHUMG00000167440 ENST00000255882.6:c.864C>T chr22.hg19:g.21167787G>A NA Q7Z625|Q9UPG2 hg19 CCDS33603.2 0.02 3.830546 CAAxCAG COVERED NOVEL PI4KA-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000075723.5 0 5.15062 KEEP 0 1 28 27 966 GG 0.999997 0.999997 0 - 7 60 248 0 0 16.031054 135 60 5097 194 ENST00000255882.6 0.049296 1 PI4KA 5297 __UNKNOWN__ __UNKNOWN__ 22 21188732 21188732 __UNKNOWN__ Intron SNP C C A rs165729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21188732C>A ENST00000255882.6 - 3 454 PI4KA_ENST00000572273.1_Intron NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CAGTTGTTTCCCAGCCAGGAG 0.483 NA A||| 2700 0.539137 0.6346 0.5548 5008 , , NA 19572 0.627 NA 0.4751 False NA ,,, NA NA NA 2504 0.3742 NA NA NA GBM(136;1332 1831 3115 23601 50806) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36151 CCDS33603.1, CCDS33603.2 22q11.21 2011-05-25 2007-08-14 2007-08-02 ENSG00000241973 ENSG00000241973 5297 8983 protein-coding gene gene with protein product 600286 PIK4CA NA 7961848, 8662589 Standard NM_058004 NM_002650 NA Approved PI4K-ALPHA, pi4K230 uc002zsz.5 P42356 OTTHUMG00000167440 ENST00000255882.6:c.367+117G>T chr22.hg19:g.21188732C>A NA Q7Z625|Q9UPG2 hg19 CCDS33603.2 0.02 2.120836 TTCxCAG COVERED NOVEL PI4KA-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000075723.5 1 3.310508 KEEP 0 0 0 11 373 CC 0.993072 0.991777 0 - 4 60 152 0 0 10.304643 72 60 2613 94 ENST00000255882.6 0.052632 0.998696 PI4KA 5297 __UNKNOWN__ __UNKNOWN__ 22 21188964 21188964 __UNKNOWN__ Intron SNP T T C rs5760899 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21188964T>C ENST00000255882.6 - 3 360 PI4KA_ENST00000572273.1_Intron NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ataagaagaataataaattag 0.353 NA T||| 356 0.0710863 0.062 0.0692 5008 , , NA 17471 0.0933 NA 0.0736 False NA ,,, NA NA NA 2504 0.0593 NA NA NA GBM(136;1332 1831 3115 23601 50806) NA 0 T 307,4077 26,255,1911 27 29 28 -4.4 0 22 dbSNP_114 28 603,7981 22,559,3711 no intron PI4KA NM_058004.3 48,814,5622 CC,CT,TT 7.0247,7.0027,7.0173 21188964 910,12058 2192 4292 6484 SO:0001627 intron_variant L36151 CCDS33603.1, CCDS33603.2 22q11.21 2011-05-25 2007-08-14 2007-08-02 ENSG00000241973 ENSG00000241973 5297 8983 protein-coding gene gene with protein product 600286 PIK4CA NA 7961848, 8662589 Standard NM_058004 NM_002650 NA Approved PI4K-ALPHA, pi4K230 uc002zsz.5 P42356 OTTHUMG00000167440 ENST00000255882.6:c.274-21A>G chr22.hg19:g.21188964T>C NA Q7Z625|Q9UPG2 hg19 CCDS33603.2 0.02 2.106745 GAAxAAT COVERED NOVEL PI4KA-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000075723.5 0 13.811498 KEEP 0 0 0 46 1387 TT 1 0.999804 0 - 5 60 188 0 0 12.8266 84 60 2928 152 ENST00000255882.6 0.05618 0.999804 PI4KA 5297 __UNKNOWN__ __UNKNOWN__ 22 21193192 21193192 __UNKNOWN__ Intron SNP C C T rs165675 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21193192C>T ENST00000255882.6 - 2 243 PI4KA_ENST00000572273.1_Intron NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha NA NA phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886) 1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) tagtgagaccctatctcttaa 0.478 NA C||| 2607 0.520567 0.615 0.5476 5008 , , NA 16257 0.5645 NA 0.4742 False NA ,,, NA NA NA 2504 0.3763 NA NA NA GBM(136;1332 1831 3115 23601 50806) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant L36151 CCDS33603.1, CCDS33603.2 22q11.21 2011-05-25 2007-08-14 2007-08-02 ENSG00000241973 ENSG00000241973 5297 8983 protein-coding gene gene with protein product 600286 PIK4CA NA 7961848, 8662589 Standard NM_058004 NM_002650 NA Approved PI4K-ALPHA, pi4K230 uc002zsz.5 P42356 OTTHUMG00000167440 ENST00000255882.6:c.157-173G>A chr22.hg19:g.21193192C>T NA Q7Z625|Q9UPG2 hg19 CCDS33603.2 0.02 4.240833 ACCxTAT COVERED NOVEL PI4KA-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000075723.5 1 2.407478 KEEP 0 0 0 8 268 CC 0.99257 0.992568 0 - 6 60 219 0 0 14.466041 112 60 4152 127 ENST00000255882.6 0.050847 0.999998 SNAP29 9342 __UNKNOWN__ __UNKNOWN__ 22 21224652 21224652 __UNKNOWN__ Missense_Mutation SNP G G A rs151146863 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21224652G>A ENST00000215730.7 + 2 393 c.265G>A c.(265-267)Gag>Aag p.E89K NM_004782.3 NP_004773.1 O95721 SNP29_HUMAN synaptosomal-associated protein, 29kDa 89 NA autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903) cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202) SNAP receptor activity (GO:0005484) breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) AGGAGTCCTGGAGCGCACAGA 0.532 NA G||| 10 0.00199681 0.0 0.0 5008 , , NA 20625 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G LYS/GLU 1,4405 2.1+/-5.4 0,1,2202 103 92 96 265 4.5 1 22 dbSNP_134 96 0,8600 0,0,4300 yes missense SNAP29 NM_004782.3 56 0,1,6502 AA,AG,GG 0.0,0.0227,0.0077 benign 89/259 21224652 1,13005 2203 4300 6503 SO:0001583 missense AF115436 CCDS13784.1 22q11.21 2008-06-10 2002-08-29 ENSG00000099940 ENSG00000099940 9342 11133 protein-coding gene gene with protein product soluble 29 kDa NSF attachment protein 604202 synaptosomal-associated protein, 29kD NA 9852078, 10591208 Standard NM_004782 NM_004782 NA Approved SNAP-29, CEDNIK uc011ahw.2 O95721 OTTHUMG00000150765 ENST00000215730.7:c.265G>A chr22.hg19:g.21224652G>A ENSP00000215730:p.Glu89Lys NA hg19 CCDS13784.1 0.02 14.649833 CTGxAGC COVERED 3 0.0013736263736263737 0 0.0 0 0.0 3 0.005244755244755245 0 0.0 G 11.97 1.797336 0.31777 2.27E-4 0.0 ENSG00000099940 ENST00000215730 T 0.75477 -0.94 5.58 4.49 0.54785 Target SNARE coiled-coil domain (1); 0.094087 0.64402 D 0.000001 T 0.38241 0.1033 N 0.05050 -0.12 0.45227 D 0.998231 B 0.17268 0.021 B 0.19666 0.026 T 0.41052 -0.9530 10 0.09338 T 0.73 -29.8694 5.7724 0.18261 0.1829:0.2023:0.6148:0.0 . 89 O95721 SNP29_HUMAN K 89 ENSP00000215730:E89K ENSP00000215730:E89K E + 1 0 SNAP29 19554652 1.000000 0.71417 1.000000 0.80357 0.895000 0.52256 4.952000 0.63618 2.625000 0.88918 0.591000 0.81541 GAG NOVEL SNAP29-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320000.4 3 29.78594 KEEP 0 0 0 99 3458 GG 1 1 0 + 11 60 406 0 0 24.18201 373 60 13681 616 ENST00000215730.7 0.028646 1 AIFM3 150209 __UNKNOWN__ __UNKNOWN__ 22 21327589 21327589 __UNKNOWN__ Missense_Mutation SNP C C T rs178264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21327589C>T ENST00000405089.1 + 3 232 c.43C>T c.(43-45)Ccc>Tcc p.P15S AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000399163.2_Intron|AIFM3_ENST00000399167.2_Intron|AIFM3_ENST00000333607.6_Intron|AIFM3_ENST00000440238.2_Intron NM_001146288.1 NP_001139760.1 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, mitochondrion-associated, 3 10 NA cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CGCTGCCTTGCCCACAGTGGA 0.682 NA C||| 1092 0.218051 0.1551 0.2233 5008 , , NA 14411 0.4306 NA 0.1113 False NA ,,, NA NA NA 2504 0.1902 NA NA NA NA 0 C ,SER/PRO, 644,3726 52,540,1593 16 15 15 ,43, -0.5 0 22 dbSNP_79 15 1036,7524 77,882,3321 yes intron,missense,intron AIFM3 NM_001018060.2,NM_001146288.1,NM_144704.2 ,74, 129,1422,4914 TT,TC,CC 12.1028,14.7368,12.993 ,, ,15/605, 21327589 1680,11250 2185 4280 6465 SO:0001583 missense AK094844 CCDS13786.1, CCDS33605.1, CCDS54503.1 22q11.21 2007-05-03 ENSG00000183773 ENSG00000183773 150209 26398 protein-coding gene gene with protein product NA 15764604 Standard NM_144704 NM_144704 NA Approved AIFL, FLJ30473 Q96NN9 OTTHUMG00000150804 ENST00000405089.1:c.43C>T chr22.hg19:g.21327589C>T ENSP00000385800:p.Pro15Ser NA B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0 hg19 CCDS54503.1 0.02 2.096253 TTGxCCA COVERED 526 0.24084249084249085 74 0.15040650406504066 72 0.19889502762430938 276 0.4825174825174825 104 0.13720316622691292 C 8.495 0.862825 0.17178 0.147368 0.121028 ENSG00000183773 ENST00000405089 T 0.44083 0.93 4.91 -0.471 0.12119 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.999999999946489E-6 B 0.02656 0.0 B 0.01281 0.0 T 0.48328 -0.9045 7 0.25751 T 0.34 . 4.8039 0.13310 0.0:0.4401:0.1597:0.4002 rs178264;rs886154 15 Q96NN9-2 . S 15 ENSP00000385800:P15S ENSP00000385800:P15S P + 1 0 AIFM3 19657589 0.006000 0.16342 0.001000 0.08648 0.007000 0.05969 0.175000 0.16762 0.089000 0.17243 0.655000 0.94253 CCC NOVEL AIFM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320149.2 0 4.514581 KEEP 0 0 0 15 524 CC 0.99649 0.995603 0 + 4 60 142 0 0 9.242752 75 60 2757 121 ENST00000405089.1 0.050633 0.99911 AIFM3 150209 __UNKNOWN__ __UNKNOWN__ 22 21330179 21330179 __UNKNOWN__ Intron SNP A A G rs178267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21330179A>G ENST00000405089.1 + 9 1014 AIFM3_ENST00000335375.5_Intron|AIFM3_ENST00000399163.2_Intron|AIFM3_ENST00000399167.2_Intron|AIFM3_ENST00000333607.6_Intron|AIFM3_ENST00000440238.2_Intron|AIFM3_ENST00000465606.1_Intron NM_001146288.1 NP_001139760.1 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, mitochondrion-associated, 3 NA NA cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194) endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) 2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCCACAGCCCAGGCACCTGGG 0.622 NA A||| 1569 0.313299 0.2141 0.3804 5008 , , NA 18549 0.5377 NA 0.1292 False NA ,,, NA NA NA 2504 0.3579 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK094844 CCDS13786.1, CCDS33605.1, CCDS54503.1 22q11.21 2007-05-03 ENSG00000183773 ENSG00000183773 150209 26398 protein-coding gene gene with protein product NA 15764604 Standard NM_144704 NM_144704 NA Approved AIFL, FLJ30473 Q96NN9 OTTHUMG00000150804 ENST00000405089.1:c.825+112A>G chr22.hg19:g.21330179A>G NA B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0 hg19 CCDS54503.1 0.02 2.364475 CCCxGGC COVERED NOVEL AIFM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320149.2 2 2.707456 KEEP 0 0 0 9 263 AA 0.99254 0.989724 0 + 5 60 190 0 0 13.532667 66 60 2400 85 ENST00000405089.1 0.070423 0.997163 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 21634943 21634943 __UNKNOWN__ IGR SNP G G T rs112364566 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21634943G>T NA NA GGT2 (53017 upstream) : KB-1183D5.13 (20336 downstream) NA NA NA gtgtgtgtgtgtgtgtgtgtg 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.21634943G>T NA hg19 0.02 -0.096504 TGTxTGT UNCOVERED NOVEL 0 2 2.408009 KEEP 1 0 0 8 298 GG 0 0 0 5 31 171 0 0 16.799916 4 25 160 22 0.555556 0.120436 CCDC116 164592 __UNKNOWN__ __UNKNOWN__ 22 21988599 21988599 __UNKNOWN__ Missense_Mutation SNP G G A rs371513 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:21988599G>A ENST00000292779.3 + 3 522 c.361G>A c.(361-363)Gga>Aga p.G121R CCDC116_ENST00000607942.1_Missense_Mutation_p.G121R NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 121 NA G -> R (in dbSNP:rs371513). endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) GCCAAGTGGTGGACGGCGGGC 0.662 NA G||| 649 0.129593 0.1135 0.1556 5008 , , NA 15740 0.0417 NA 0.2018 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 G ARG/GLY 478,3928 222.6+/-239.4 25,428,1750 92 86 88 361 -2.9 0 22 dbSNP_80 88 1636,6964 297.8+/-303.6 153,1330,2817 yes missense CCDC116 NM_152612.2 125 178,1758,4567 AA,AG,GG 19.0233,10.8488,16.254 benign 121/614 21988599 2114,10892 2203 4300 6503 SO:0001583 missense BC033499 CCDS13791.1 22q11.21 2006-06-27 ENSG00000161180 ENSG00000161180 164592 26688 protein-coding gene gene with protein product NA 12477932 Standard NM_152612 NM_152612 NA Approved FLJ36046 uc002zve.3 Q8IYX3 OTTHUMG00000150821 ENST00000292779.3:c.361G>A chr22.hg19:g.21988599G>A ENSP00000292779:p.Gly121Arg NA Q8N9Y9 hg19 CCDS13791.1 0.02 13.862073 GGTxGAC COVERED 290 0.13278388278388278 57 0.11585365853658537 65 0.17955801104972377 24 0.04195804195804196 144 0.18997361477572558 G 0.011 -1.717935 0.00706 0.108488 0.190233 ENSG00000161180 ENST00000292779 T 0.21361 2.01 4.42 -2.88 0.05682 . 0.892392 0.09571 N 0.784163 T 0.00012 0.0000 N 0.04959 -0.14 0.80722 P 0.0 B;B 0.20887 0.012;0.049 B;B 0.17433 0.018;0.018 T 0.46062 -0.9218 8 . . . -45.4808 8.7821 0.34798 0.5812:0.0:0.4188:0.0 rs371513;rs60165197;rs371513 121;121 B7Z7H5;Q8IYX3-2 .;. R 121 ENSP00000292779:G121R . G + 1 0 CCDC116 20318599 0.000000 0.05858 0.000000 0.03702 0.009000 0.06853 -1.162000 0.03141 -0.552000 0.06167 -0.658000 0.03865 GGA NOVEL CCDC116-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320199.1 0 17.624074 KEEP 0 2 52 77 2675 GG 1 1 0 + 12 60 415 0 0 23.923399 382 60 14014 558 ENST00000292779.3 0.030457 1 PPIL2 23759 __UNKNOWN__ __UNKNOWN__ 22 22024150 22024150 __UNKNOWN__ Intron SNP C C T rs2247115 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22024150C>T ENST00000335025.8 + 2 123 PPIL2_ENST00000412327.1_Intron|PPIL2_ENST00000398831.3_Intron|PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000492445.2_Intron|PPIL2_ENST00000406385.1_Intron peptidylprolyl isomerase (cyclophilin)-like 2 NA NA endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) CCAAAGACTTCGTCCTCTTTA 0.443 NA T||| 1256 0.250799 0.1445 0.2666 5008 , , NA 21496 0.2966 NA 0.2753 False NA ,,, NA NA NA 2504 0.3108 NA NA NA NA 0 T ,, 582,2554 62,458,1048 150 127 134 ,, -1.8 0 22 dbSNP_100 134 1752,5412 221,1310,2051 no intron,intron,intron PPIL2 NM_014337.3,NM_148175.2,NM_148176.2 ,, 283,1768,3099 TT,TC,CC 24.4556,18.5587,22.6602 ,, ,, 22024150 2334,7966 1568 3582 5150 SO:0001627 intron_variant CCDS13793.1 22q11.21 2013-01-29 ENSG00000100023 ENSG00000100023 23759 U-box domain containing 9261 protein-coding gene gene with protein product U-box domain containing 7 607588 NA 10591208 Standard NM_014337 NA Approved UBOX7, CYC4, Cyp-60 uc002zvh.4 Q13356 OTTHUMG00000030174 ENST00000335025.8:c.33-52C>T chr22.hg19:g.22024150C>T NA hg19 CCDS13793.1 0.02 4.065427 CTTxGTC COVERED NOVEL PPIL2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075028.4 0 4.54747 KEEP 0 1 25 24 805 CC 0.999931 0.999931 0 + 6 60 219 0 0 14.048875 132 60 4787 186 ENST00000335025.8 0.043478 1 YPEL1 29799 __UNKNOWN__ __UNKNOWN__ 22 22055280 22055280 __UNKNOWN__ 3'UTR SNP A A G rs710172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22055280A>G ENST00000339468.3 - 0 881 NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) NA NA nucleus (GO:0005634) breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) GAGATGGCCGAGAGTGTCAAG 0.458 NA A||| 3353 0.669529 0.6861 0.6297 5008 , , NA 18838 0.7421 NA 0.6173 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF060862 CCDS13794.1 22q11.2 2008-02-04 2001-11-28 ENSG00000100027 ENSG00000100027 29799 12845 protein-coding gene gene with protein product 608082 yippee (Drosophila) homolog-like 1 NA 11473580 Standard NM_013313 NM_013313 NA Approved uc002zvl.3 O60688 OTTHUMG00000150830 ENST00000339468.3:c.*138T>C chr22.hg19:g.22055280A>G NA Q65ZA1|Q6GLI6 hg19 CCDS13794.1 0.02 17.53746 CCGxGAG COVERED NOVEL YPEL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320245.1 4 9.663439 KEEP 0 1 34 44 1390 AA 1 1 0 - 17 60 625 1 0 39.550615 413 60 14626 540 ENST00000339468.3 0.039535 1 YPEL1 29799 __UNKNOWN__ __UNKNOWN__ 22 22055394 22055394 __UNKNOWN__ 3'UTR SNP A A G rs1860 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22055394A>G ENST00000339468.3 - 0 767 NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) NA NA nucleus (GO:0005634) breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) AACAGCATTCAAAGGAGAAGG 0.428 NA G||| 3353 0.669529 0.6861 0.6297 5008 , , NA 19496 0.7411 NA 0.6183 False NA ,,, NA NA NA 2504 0.6544 NA NA NA NA 0 G 2944,1462 469.6+/-355.5 991,962,250 107 92 97 1.5 0 22 dbSNP_36 97 5189,3411 502.5+/-375.7 1575,2039,686 no utr-3 YPEL1 NM_013313.3 2566,3001,936 GG,GA,AA 39.6628,33.182,37.4673 22055394 8133,4873 2203 4300 6503 SO:0001624 3_prime_UTR_variant AF060862 CCDS13794.1 22q11.2 2008-02-04 2001-11-28 ENSG00000100027 ENSG00000100027 29799 12845 protein-coding gene gene with protein product 608082 yippee (Drosophila) homolog-like 1 NA 11473580 Standard NM_013313 NM_013313 NA Approved uc002zvl.3 O60688 OTTHUMG00000150830 ENST00000339468.3:c.*24T>C chr22.hg19:g.22055394A>G NA Q65ZA1|Q6GLI6 hg19 CCDS13794.1 0.02 27.208894 TTCxAAG COVERED NOVEL YPEL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320245.1 3 18.120543 KEEP 0 2 68 84 2615 AA 1 1 0 - 28 60 1001 0 0 63.73927 604 60 22166 890 ENST00000339468.3 0.044304 1 PPM1F 9647 __UNKNOWN__ __UNKNOWN__ 22 22275524 22275524 __UNKNOWN__ 3'UTR SNP C C T rs41283227 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22275524C>T ENST00000407142.1 - 0 3862 PPM1F_ENST00000263212.5_3'UTR P49593 PPM1F_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1F NA NA cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496) cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234) calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) GCTGGCTCCCCGCTCCCTGTG 0.617 NA C||| 505 0.100839 0.1172 0.1254 5008 , , NA 18365 0.0238 NA 0.171 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant D13640 CCDS13796.1 22q11.22 2012-04-17 2010-03-05 ENSG00000100034 ENSG00000100034 9647 3.1.3.16 Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent 19388 protein-coding gene gene with protein product partner of PIX 2, Ca(2+)/calmodulin-dependent protein kinase phosphatase protein phosphatase 1F (PP2C domain containing) NA 11864573, 11559703 Standard NM_014634 NM_014634 NA Approved FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP uc002zvp.2 P49593 OTTHUMG00000150835 ENST00000407142.1:c.*1941G>A chr22.hg19:g.22275524C>T NA A8K6G3|B7Z2C3|Q96PM2 hg19 0.02 11.205996 CCCxGCT COVERED NOVEL PPM1F-002 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000320268.1 0 17.153657 KEEP 0 0 0 57 1914 CC 1 1 0 - 11 60 410 0 0 25.962976 278 60 9826 407 ENST00000407142.1 0.038062 1 TOP3B 8940 __UNKNOWN__ __UNKNOWN__ 22 22312502 22312502 __UNKNOWN__ Intron SNP C C T rs239920 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22312502C>T ENST00000398793.2 - 17 2542 TOP3B_ENST00000357179.5_Intron NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta NA NA chromosome segregation (GO:0007059)|DNA topological change (GO:0006265) condensed chromosome (GO:0000793)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GTAATGAGGACGAGGATGAGG 0.637 NA C||| 672 0.134185 0.2375 0.1484 5008 , , NA 22892 0.002 NA 0.1849 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF017146 CCDS13797.1 22q11.22 2011-05-24 ENSG00000100038 ENSG00000100038 8940 11993 protein-coding gene gene with protein product 603582 NA 9786842, 9074928 Standard NM_003935 XM_005261811 NA Approved uc002zvs.3 O95985 OTTHUMG00000167438 ENST00000398793.2:c.2107+361G>A chr22.hg19:g.22312502C>T NA A0M8Q3|Q9BUP5 hg19 CCDS13797.1 0.02 1.917169 GGAxGAG COVERED NOVEL TOP3B-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320251.1 0 3.310493 KEEP 9 0 0 11 370 CC 0.993072 0.992842 0 - 6 60 221 0 0 15.457341 82 60 2746 123 ENST00000398793.2 0.068182 0.999768 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22759007 22759007 __UNKNOWN__ IGR SNP T T G rs391601 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22759007T>G NA NA IGLV7-43 (9180 upstream) : IGLV1-40 (5090 downstream) NA NA NA GCCTGAGGACTAGGCCGATTA 0.557 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.22759007T>G NA hg19 0.02 1.865381 GACxAGG COVERED NOVEL 0 1 2.70736 KEEP 0 0 0 9 270 TT 0.99254 0.989724 0 7 60 247 0 0 18.114097 64 60 2276 88 0.098592 0.997163 PRAME 23532 __UNKNOWN__ __UNKNOWN__ 22 22899234 22899234 __UNKNOWN__ Missense_Mutation SNP A A G rs1129172 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22899234A>G ENST00000398741.1 - 3 325 c.19T>C c.(19-21)Tgg>Cgg p.W7R PRAME_ENST00000402697.1_Missense_Mutation_p.W7R|PRAME_ENST00000543184.1_Missense_Mutation_p.W7R|PRAME_ENST00000398743.2_Missense_Mutation_p.W7R|PRAME_ENST00000406503.1_Missense_Mutation_p.W7R|PRAME_ENST00000405655.3_Missense_Mutation_p.W7R NM_206955.1 NP_996838.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 7 NA W -> R (in dbSNP:rs2266988). {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334}. apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|plasma membrane (GO:0005886) retinoic acid receptor binding (GO:0042974) p.W7R(2) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CTTCTTACCCACAAACGCCTT 0.562 NA G||| 3537 0.70627 0.7564 0.6931 5008 , , NA 14575 0.752 NA 0.5944 False NA ,,, NA NA NA 2504 0.7157 NA NA NA Melanoma(73;1707 1838 15168 27201) NA 2 Substitution - Missense(2) prostate(1)|central_nervous_system(1) G ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP,ARG/TRP 3252,1154 408.6+/-334.7 1206,840,157 186 164 171 19,19,19,19,19 2.8 0.4 22 dbSNP_100 171 4922,3678 523.7+/-380.4 1402,2118,780 yes missense,missense,missense,missense,missense PRAME NM_006115.3,NM_206953.1,NM_206954.1,NM_206955.1,NM_206956.1 101,101,101,101,101 2608,2958,937 GG,GA,AA 42.7674,26.1916,37.1521 benign,benign,benign,benign,benign 7/510,7/510,7/510,7/510,7/510 22899234 8174,4832 2203 4300 6503 SO:0001583 missense U65011 CCDS13801.1 22q11.22 2013-01-17 ENSG00000185686 ENSG00000185686 23532 - 9336 protein-coding gene gene with protein product cancer/testis antigen 130 606021 MAPE NA 9047241, 10591208 Standard NM_206953 XM_006725402 NA Approved CT130 uc002zwj.3 P78395 OTTHUMG00000151172 ENST00000398741.1:c.19T>C chr22.hg19:g.22899234A>G ENSP00000381726:p.Trp7Arg NA B2R6Y7|O43481|Q8IXN8 hg19 CCDS13801.1 0.02 4.066304 CCCxCAA COVERED 1490 0.6822344322344323 378 0.7682926829268293 235 0.649171270718232 422 0.7377622377622378 455 0.600263852242744 g 0.393 -0.922440 0.02396 0.738084 0.572326 ENSG00000185686 ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000402697;ENST00000439106;ENST00000420709;ENST00000406503;ENST00000403441 T;T;T;T;T;T;T;T;T 0.10477 2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87;2.87 2.78 2.78 0.32641 . . . . . T 0.00012 0.0000 N 0.08118 0 0.33482 P 0.41245699999999996 B 0.02656 0.0 B 0.01281 0.0 T 0.34054 -0.9844 8 0.02654 T 1 . 5.8996 0.18960 0.1457:0.0:0.8543:0.0 rs2266988;rs17497986;rs57013465 7 P78395 PRAME_HUMAN R 7 ENSP00000381728:W7R;ENSP00000445675:W7R;ENSP00000381726:W7R;ENSP00000384343:W7R;ENSP00000385198:W7R;ENSP00000407320:W7R;ENSP00000412318:W7R;ENSP00000384058:W7R;ENSP00000385091:W7R ENSP00000381726:W7R W - 1 0 PRAME 21229234 0.547000 0.26465 0.392000 0.26245 0.002000 0.02628 0.671000 0.25172 0.765000 0.33221 -0.213000 0.12676 TGG NOVEL PRAME-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000321644.1 1 6.617747 KEEP 0 0 0 22 684 AA 0.999879 0.999879 0 - 6 60 213 0 0 13.453483 132 60 4706 198 ENST00000398741.1 0.043478 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22994589 22994589 __UNKNOWN__ IGR SNP C C T rs201195155 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22994589C>T NA NA GGTLC2 (4378 upstream) : D86994.2 (12308 downstream) NA NA NA tcttcttgtccattcatctgc 0.582 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.22994589C>T NA hg19 0.02 -0.376828 GTCxATT COVERED NOVEL 0 0 3.310824 KEEP 1 0 0 11 397 CC 0.993072 0.902771 0 4 22 147 0 0 10.832273 39 60 1463 75 0.093023 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 22994603 22994603 __UNKNOWN__ IGR SNP C C A rs78395647 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:22994603C>A NA NA GGTLC2 (4392 upstream) : D86994.2 (12294 downstream) NA NA NA catctgcccacccatctgtcc 0.592 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.22994603C>A NA hg19 0.02 -0.377158 CCAxCCA COVERED NOVEL 0 0 3.310864 KEEP 0 0 0 11 396 CC 0.993072 0.902771 0 4 22 121 0 0 8.254132 39 60 1439 71 0.093023 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 23098193 23098193 __UNKNOWN__ IGR SNP C C T rs34051623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23098193C>T NA NA IGLV3-16 (7795 upstream) : D87015.1 (2991 downstream) NA NA NA ATGGGGATAGCGGGCGGCCTT 0.562 NA .||| 1204 0.240415 0.1891 0.2089 5008 , , NA 14087 0.121 NA 0.334 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.23098193C>T NA hg19 0.02 -0.429832 TAGxGGG COVERED NOVEL 0 0 2.707767 KEEP 0 0 0 9 281 CC 0.99254 0.952699 0 4 60 153 0 0 11.192803 45 60 1489 62 0.081633 0.959859 IGLV3-12 28802 __UNKNOWN__ __UNKNOWN__ 22 23114938 23114938 __UNKNOWN__ RNA SNP C C A rs2073450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23114938C>A ENST00000390313.2 + 0 219 immunoglobulin lambda variable 3-12 NA NA NA ATAGCGATAGCAACCGGCCCT 0.577 NA c||| 564 0.11262 0.0794 0.0648 5008 , , NA 14224 0.1478 NA 0.0666 False NA ,,, NA NA NA 2504 0.2025 NA NA NA NA 0 C 275,3631 10,255,1688 56 57 56 -3.1 0 22 dbSNP_96 56 614,7648 26,562,3543 no intergenic 36,817,5231 AA,AC,CC 7.4316,7.0405,7.306 23114938 889,11279 1953 4131 6084 Z73658 22q11.2 2012-02-08 ENSG00000211667 ENSG00000211667 28802 Immunoglobulins / IGL locus 5898 other immunoglobulin gene NA Standard NG_000002 NG_000002 NA Approved OTTHUMG00000151233 ENST00000390313.2: chr22.hg19:g.23114938C>A NA hg19 0.02 8.082141 TAGxAAC COVERED NOVEL IGLV3-12-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000321838.1 1 10.834807 KEEP 0 0 0 36 1257 CC 0.999999 0.999999 0 + 10 60 361 0 0 22.91914 225 60 8460 311 ENST00000390313.2 0.042553 1 IGLV3-12 28802 __UNKNOWN__ __UNKNOWN__ 22 23115001 23115001 __UNKNOWN__ RNA SNP A A G rs2073452 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23115001A>G ENST00000390313.2 + 0 282 immunoglobulin lambda variable 3-12 NA NA NA CCGCCACCCTAACCATCAGCA 0.582 NA N||| 566 0.113019 0.0802 0.0648 5008 , , NA 14481 0.1478 NA 0.0666 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 G 291,3773 11,269,1752 57 58 58 2.8 1 22 dbSNP_96 58 612,7736 25,562,3587 no intergenic 36,831,5339 GG,GA,AA 7.3311,7.1604,7.2752 23115001 903,11509 2032 4174 6206 Z73658 22q11.2 2012-02-08 ENSG00000211667 ENSG00000211667 28802 Immunoglobulins / IGL locus 5898 other immunoglobulin gene NA Standard NG_000002 NG_000002 NA Approved OTTHUMG00000151233 ENST00000390313.2: chr22.hg19:g.23115001A>G NA hg19 0.02 12.146266 CCTxACC COVERED NOVEL IGLV3-12-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal IG_V_gene NA IG_V_gene OTTHUMT00000321838.1 2 13.536908 KEEP 0 0 0 45 1328 AA 1 1 0 + 10 60 388 0 0 24.779957 274 60 9713 413 ENST00000390313.2 0.035211 1 GNAZ 2781 __UNKNOWN__ __UNKNOWN__ 22 23438191 23438191 __UNKNOWN__ Silent SNP C C T rs1805058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23438191C>T ENST00000248996.4 + 2 975 c.309C>T c.(307-309)gaC>gaT p.D103D RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 103 NA adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871) p.D103D(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCGCCTACGACGCTGTGCAGC 0.667 NA c||| 1222 0.24401 0.1286 0.3516 5008 , , NA 16223 0.3601 NA 0.2495 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 1 Substitution - coding silent(1) prostate(1) T , 671,3735 281.1+/-275.7 46,579,1578 87 94 92 309, -9.2 0.1 22 dbSNP_89 92 2257,6341 377.7+/-338.6 304,1649,2346 no coding-synonymous,intron GNAZ,RTDR1 NM_002073.2,NM_014433.2 , 350,2228,3924 TT,TC,CC 26.2503,15.2292,22.5161 , 103/356, 23438191 2928,10076 2203 4299 6502 SO:0001819 synonymous_variant CCDS13804.1 22q11.1-q11.2 2008-06-10 ENSG00000128266 ENSG00000128266 2781 4395 protein-coding gene gene with protein product 139160 NA 2115889 Standard NM_002073 NM_002073 NA Approved uc002zwu.1 P19086 OTTHUMG00000150611 ENST00000248996.4:c.309C>T chr22.hg19:g.23438191C>T NA B2R6C1|Q4QRJ6 hg19 CCDS13804.1 0.02 22.803675 CGAxGCT COVERED NOVEL GNAZ-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319073.1 2 65.311244 KEEP 0 3 91 249 8646 CC 1 1 0 + 24 60 901 0 0 59.069977 509 60 17309 992 ENST00000248996.4 0.045028 1 RAB36 9609 __UNKNOWN__ __UNKNOWN__ 22 23503121 23503121 __UNKNOWN__ Silent SNP G G A rs5759611 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23503121G>A ENST00000263116.2 + 10 913 c.873G>A c.(871-873)tcG>tcA p.S291S RAB36_ENST00000341989.4_Silent_p.S269S NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 291 NA protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) TCGAGCAGTCGGTGCTGCAGG 0.607 NA G||| 1138 0.227236 0.0976 0.3501 5008 , , NA 20790 0.3413 NA 0.2396 False NA ,,, NA NA NA 2504 0.1851 NA NA NA NA 0 G 535,3871 242.5+/-252.5 36,463,1704 80 69 73 873 -11.3 0.3 22 dbSNP_114 73 2217,6383 377.2+/-338.5 288,1641,2371 no coding-synonymous RAB36 NM_004914.2 324,2104,4075 AA,AG,GG 25.7791,12.1425,21.1595 291/334 23503121 2752,10254 2203 4300 6503 SO:0001819 synonymous_variant AB023061 CCDS13805.1 22q11.22 2008-06-11 ENSG00000100228 ENSG00000100228 9609 RAB, member RAS oncogene 9775 protein-coding gene gene with protein product 605662 NA 9920784, 10591208 Standard NM_004914 NM_004914 NA Approved uc002zwv.1 O95755 OTTHUMG00000150601 ENST00000263116.2:c.873G>A chr22.hg19:g.23503121G>A NA Q2M390|Q7Z4A9|Q9UHP5 hg19 CCDS13805.1 0.02 11.089421 GTCxGTG COVERED NOVEL RAB36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319046.1 1 25.240016 KEEP 0 0 0 84 2845 GG 1 1 0 + 16 60 592 0 0 40.552158 251 60 8610 438 ENST00000263116.2 0.059925 1 BCR 613 __UNKNOWN__ __UNKNOWN__ 22 23522669 23522669 __UNKNOWN__ 5'UTR SNP T T G rs112947658 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23522669T>G ENST00000305877.8 + 0 273 BCR_ENST00000359540.3_5'UTR|BCR_ENST00000398512.5_5'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region NA NA actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 Bosutinib(DB06616)|Ponatinib(DB08901) CGCGGCCACCTCCCCCCGGCC 0.791 NA T ABL1, FGFR1, JAK2 CML, ALL, AML t||| 1485 0.296526 0.3419 0.3631 5008 , , NA 5888 0.3532 NA 0.2396 False NA ,,, NA NA NA 2504 0.1881 NA NA NA Dom yes 22 22q11.21 613 breakpoint cluster region L 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS13806.1, CCDS13807.1 22q11 2013-01-10 ENSG00000186716 ENSG00000186716 613 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 1014 protein-coding gene gene with protein product 151410 D22S11, BCR1 NA 1657398, 18070886 Standard NM_004327 NM_004327 NA Approved D22S662, CML, PHL, ALL uc002zww.3 P11274 OTTHUMG00000150655 ENST00000305877.8:c.-479T>G chr22.hg19:g.23522669T>G NA P78501|Q12842|Q4LE80|Q6NZI3 hg19 CCDS13806.1 0.02 -0.419627 ACCxCCC COVERED NOVEL BCR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075819.1 1 4.509612 KEEP 0 0 0 15 423 TT 0.99649 0.945073 0 + 4 60 132 0 0 9.33877 39 60 1309 77 ENST00000305877.8 0.093023 0.948402 BCR 613 __UNKNOWN__ __UNKNOWN__ 22 23523630 23523630 __UNKNOWN__ Silent SNP C C A rs5751602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23523630C>A ENST00000305877.8 + 1 1234 c.483C>A c.(481-483)atC>atA p.I161I BCR_ENST00000359540.3_Silent_p.I161I|BCR_ENST00000398512.5_Silent_p.I161I NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 161 Kinase. NA actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 Bosutinib(DB06616)|Ponatinib(DB08901) TCGAGCGGATCCGCAAGGGCC 0.721 NA T ABL1, FGFR1, JAK2 CML, ALL, AML C||| 1460 0.291534 0.3238 0.3602 5008 , , NA 9634 0.3542 NA 0.2396 False NA ,,, NA NA NA 2504 0.1881 NA NA NA Dom yes 22 22q11.21 613 breakpoint cluster region L 0 C , 1202,3134 189,824,1155 29 35 33 483,483 3.4 1 22 dbSNP_114 33 2071,6389 269,1533,2428 no coding-synonymous,coding-synonymous BCR NM_004327.3,NM_021574.2 , 458,2357,3583 AA,AC,CC 24.4799,27.7214,25.5783 , 161/1272,161/1228 23523630 3273,9523 2168 4230 6398 SO:0001819 synonymous_variant CCDS13806.1, CCDS13807.1 22q11 2013-01-10 ENSG00000186716 ENSG00000186716 613 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 1014 protein-coding gene gene with protein product 151410 D22S11, BCR1 NA 1657398, 18070886 Standard NM_004327 NM_004327 NA Approved D22S662, CML, PHL, ALL uc002zww.3 P11274 OTTHUMG00000150655 ENST00000305877.8:c.483C>A chr22.hg19:g.23523630C>A NA P78501|Q12842|Q4LE80|Q6NZI3 hg19 CCDS13806.1 0.02 10.195996 GATxCGC COVERED NOVEL BCR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075819.1 3 48.389512 KEEP 0 0 0 161 5536 CC 1 1 0 + 11 60 371 0 0 22.665704 245 60 9018 562 ENST00000305877.8 0.042969 1 BCR 613 __UNKNOWN__ __UNKNOWN__ 22 23657766 23657766 __UNKNOWN__ 3'UTR SNP G G A rs77227437 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:23657766G>A ENST00000305877.8 + 0 4624 BCR_ENST00000359540.3_3'UTR|BCR_ENST00000436990.2_3'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region NA NA actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234) ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 Bosutinib(DB06616)|Ponatinib(DB08901) CTGGCTAATCGGGCCATCCGT 0.592 NA T ABL1, FGFR1, JAK2 CML, ALL, AML .||| 962 0.192093 0.0703 0.0749 5008 , , NA 15498 0.5565 NA 0.0189 False NA ,,, NA NA NA 2504 0.2423 NA NA NA Dom yes 22 22q11.21 613 breakpoint cluster region L 0 G , 90,1294 3,84,605 15 14 14 , -2.7 0 22 dbSNP_131 14 38,3144 0,38,1553 no utr-3,utr-3 BCR NM_004327.3,NM_021574.2 , 3,122,2158 AA,AG,GG 1.1942,6.5029,2.8033 , , 23657766 128,4438 692 1591 2283 SO:0001624 3_prime_UTR_variant CCDS13806.1, CCDS13807.1 22q11 2013-01-10 ENSG00000186716 ENSG00000186716 613 Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 1014 protein-coding gene gene with protein product 151410 D22S11, BCR1 NA 1657398, 18070886 Standard NM_004327 NM_004327 NA Approved D22S662, CML, PHL, ALL uc002zww.3 P11274 OTTHUMG00000150655 ENST00000305877.8:c.*57G>A chr22.hg19:g.23657766G>A NA P78501|Q12842|Q4LE80|Q6NZI3 hg19 CCDS13806.1 0.02 2.388139 ATCxGGC COVERED NOVEL BCR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075819.1 0 9.32979 KEEP 0 0 0 31 1068 GG 0.999997 0.981953 0 + 4 60 148 0 0 10.423004 53 60 1757 115 ENST00000305877.8 0.070175 0.981955 KB-1572G7.2 0 __UNKNOWN__ __UNKNOWN__ 22 24056537 24056537 __UNKNOWN__ RNA SNP G G A rs2070444 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:24056537G>A ENST00000421064.1 - 0 426 NA NA NA TACCTAGGGCGGGAGAATTGT 0.567 NA g||| 2204 0.440096 0.2322 0.5994 5008 , , NA 19705 0.3194 NA 0.6382 False NA ,,, NA NA NA 2504 0.5286 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000421064.1: chr22.hg19:g.24056537G>A NA hg19 0.02 4.68519 GGCxGGA COVERED NOVEL KB-1572G7.2-001 KNOWN non_canonical_TEC|basic|readthrough_transcript processed_transcript NA processed_transcript OTTHUMT00000471974.1 1 7.659944 KEEP 0 1 33 37 1288 GG 1 1 0 - 7 60 276 0 0 18.741845 139 60 4857 230 ENST00000421064.1 0.047945 1 DDTL 100037417 __UNKNOWN__ __UNKNOWN__ 22 24314006 24314006 __UNKNOWN__ 3'UTR SNP G G T rs1006771 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:24314006G>T ENST00000215770.5 + 0 830 DDT_ENST00000404092.1_Intron|DDT_ENST00000398344.4_Intron|DDT_ENST00000350608.3_Intron NM_001084393.1 NP_001077862.1 A6NHG4 DDTL_HUMAN D-dopachrome tautomerase-like NA NA cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) lyase activity (GO:0016829) kidney(1)|urinary_tract(1) 2 AGGTGTGGGAGGTAGCCGCAC 0.537 NA .||| 3270 0.652955 0.7126 0.5476 5008 , , NA 19363 0.5506 NA 0.672 False NA ,,, NA NA NA 2504 0.7331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CR606018 CCDS42988.1 22q11.23 2008-06-10 ENSG00000099974 ENSG00000099974 100037417 33446 protein-coding gene gene with protein product D-dopachrome decarboxylase-like protein NA 9729470, 10591208 Standard NM_001084393 NM_001084393 NA Approved uc002zyy.4 A6NHG4 OTTHUMG00000150800 ENST00000215770.5:c.*411G>T chr22.hg19:g.24314006G>T NA B4DJJ7 hg19 CCDS42988.1 0.02 9.273506 GGAxGTA COVERED NOVEL DDTL-001 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320142.1 2 14.14435 KEEP 0 0 0 47 1637 GG 1 1 0 + 14 60 527 0 0 36.929518 200 60 7361 301 ENST00000215770.5 0.065421 1 CABIN1 23523 __UNKNOWN__ __UNKNOWN__ 22 24573719 24573719 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:24573719G>A ENST00000405822.2 + 35 6310 c.6216G>A c.(6214-6216)acG>acA p.T2072T CABIN1_ENST00000263119.5_Silent_p.T2151T|CABIN1_ENST00000337989.7_Silent_p.T521T|CABIN1_ENST00000398319.2_Silent_p.T2151T Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2151 NA cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086) aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) protein phosphatase inhibitor activity (GO:0004864) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TCACCGTCACGCCACCCACCC 0.657 NA NA NA NA NA NA NA NA NA NA NA 0 64 53 57 NA NA 22 NA 24573719 2203 4300 6503 SO:0001819 synonymous_variant AF072441 CCDS13823.1, CCDS74830.1 22q11.23 2008-09-16 ENSG00000099991 ENSG00000099991 23523 24187 protein-coding gene gene with protein product 604251 NA 9655484, 9205841 Standard NM_012295 NM_001199281 NA Approved KIAA0330, PPP3IN uc002zzi.1 Q9Y6J0 OTTHUMG00000150797 ENST00000405822.2:c.6216G>A chr22.hg19:g.24573719G>A NA G5E9F3|Q6PHY0|Q9Y460 hg19 0.02 4.073991 CACxCCA COVERED NOVEL CABIN1-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000320162.2 2 16.187319 KEEP 0 1 32 65 2284 GG 1 1 0 + 5 60 176 0 0 10.675232 132 60 4725 276 ENST00000405822.2 0.036496 1 UPB1 51733 __UNKNOWN__ __UNKNOWN__ 22 24891355 24891355 __UNKNOWN__ 5'UTR SNP A A T rs2070475 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:24891355A>T ENST00000326010.5 + 0 328 UPB1_ENST00000413389.2_5'UTR|UPB1_ENST00000382760.2_5'UTR NM_016327.2 NP_057411.1 Q9UBR1 BUP1_HUMAN ureidopropionase, beta NA NA beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872) endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GGACACAAGCACTGGCGGACC 0.652 NA A||| 781 0.15595 0.0083 0.1599 5008 , , NA 15746 0.3085 NA 0.172 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 A 157,4249 105.2+/-143.6 2,153,2048 59 58 58 -8.9 0 22 dbSNP_96 58 1268,7330 244.3+/-273.6 98,1072,3129 no utr-5 UPB1 NM_016327.2 100,1225,5177 TT,TA,AA 14.7476,3.5633,10.9582 24891355 1425,11579 2203 4299 6502 SO:0001623 5_prime_UTR_variant AB013885 CCDS13827.1 22q11.2 2008-04-11 ENSG00000100024 ENSG00000100024 51733 16297 protein-coding gene gene with protein product 606673 NA 10542323 Standard XR_244378 NA Approved BUP1 uc003aaf.3 Q9UBR1 OTTHUMG00000150749 ENST00000326010.5:c.-17A>T chr22.hg19:g.24891355A>T NA A3KMF8|Q9UIR3 hg19 CCDS13827.1 0.02 6.261717 AGCxCTG COVERED NOVEL UPB1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319869.1 1 18.337421 KEEP 0 0 0 61 1786 AA 1 1 0 + 7 60 246 0 0 14.867487 187 60 6629 289 ENST00000326010.5 0.036082 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25053392 25053392 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25053392G>A NA NA GGT1 (28420 upstream) : PIWIL3 (61608 downstream) NA NA NA CCCCTCTTCCGCTTTCGTTCC 0.602 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25053392G>A NA hg19 0.02 1.956489 TCCxCTT COVERED NOVEL 0 0 3.444774 KEEP 5 1 33 23 756 GG 0.999892 0.99779 0 4 22 148 0 0 10.001693 68 60 2277 122 0.055556 0.997898 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25084071 25084071 __UNKNOWN__ IGR SNP G G T rs2154613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25084071G>T NA NA GGT1 (59099 upstream) : PIWIL3 (30929 downstream) NA NA NA TCCAAAGCTTGTTCCCATCAC 0.448 NA g||| 2072 0.413738 0.4092 0.4597 5008 , , NA 20169 0.504 NA 0.2803 False NA ,,, NA NA NA 2504 0.4315 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25084071G>T NA hg19 0.02 12.533684 CTTxTTC COVERED NOVEL 0 3 18.661037 KEEP 0 0 0 62 2228 GG 1 1 0 15 60 538 0 0 34.472075 315 60 11986 451 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25086734 25086734 __UNKNOWN__ IGR SNP T T C rs5751940 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25086734T>C NA NA GGT1 (61762 upstream) : PIWIL3 (28266 downstream) NA NA NA TTTAAGAATTTTATTATCAGC 0.328 NA t||| 1775 0.354433 0.1959 0.4452 5008 , , NA 17066 0.5 NA 0.2843 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25086734T>C NA hg19 0.02 4.42992 ATTxTAT COVERED NOVEL 0 0 2.372479 KEEP 0 0 0 8 227 TT 0.99257 0.99257 0 8 60 307 0 0 21.153306 134 60 4716 150 0.056338 1 PIWIL3 440822 __UNKNOWN__ __UNKNOWN__ 22 25145471 25145471 __UNKNOWN__ Missense_Mutation SNP A A G rs1892722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25145471A>G ENST00000332271.5 - 11 1650 c.1234T>C c.(1234-1236)Tgt>Cgt p.C412R PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.C303R|PIWIL3_ENST00000533313.1_Missense_Mutation_p.C303R NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 412 NA C -> R (in dbSNP:rs1892722). cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737) RNA binding (GO:0003723) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TAATCTTTACATATTTCATCT 0.323 NA G||| 3370 0.672923 0.6831 0.7061 5008 , , NA 22331 0.7312 NA 0.5696 False NA ,,, NA NA NA 2504 0.682 NA NA NA NA 0 G ARG/CYS 2893,1513 481.4+/-359.1 946,1001,256 82 74 77 1234 -5 0 22 dbSNP_92 77 5136,3464 507.2+/-376.8 1535,2066,699 yes missense PIWIL3 NM_001008496.2 180 2481,3067,955 GG,GA,AA 40.2791,34.3395,38.267 benign 412/883 25145471 8029,4977 2203 4300 6503 SO:0001583 missense AB079368 CCDS33623.1 22q11.23 2013-02-15 2013-02-15 ENSG00000184571 ENSG00000184571 440822 Argonaute/PIWI family 18443 protein-coding gene gene with protein product 610314 piwi-like 3 (Drosophila) NA 12906857 Standard NM_001008496 NM_001008496 NA Approved HIWI3 uc003abd.2 Q7Z3Z3 OTTHUMG00000150788 ENST00000332271.5:c.1234T>C chr22.hg19:g.25145471A>G ENSP00000330031:p.Cys412Arg NA hg19 CCDS33623.1 0.02 4.31758 TACxTAT COVERED 1408 0.6446886446886447 328 0.6666666666666666 247 0.6823204419889503 419 0.7325174825174825 414 0.5461741424802111 G 0.007 -1.989360 0.00439 0.656605 0.597209 ENSG00000184571 ENST00000332271;ENST00000533313;ENST00000527701 T;T;T 0.05382 3.45;3.45;3.45 2.81 -4.97 0.03029 Argonaute/Dicer protein, PAZ (3); 0.231987 0.34700 N 0.003758 T 0.00012 0.0000 N 0.00006 -3.205 0.80722 P 0.0 B;B;B 0.06786 0.001;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.42783 -0.9431 9 0.02654 T 1 0.0803 0.4211 0.00456 0.3247:0.1297:0.1763:0.3693 rs1892722;rs57690624;rs1892722 303;412;412 E9PIP6;B4DYF7;Q7Z3Z3 .;.;PIWL3_HUMAN R 412;303;303 ENSP00000330031:C412R;ENSP00000431843:C303R;ENSP00000435718:C303R ENSP00000330031:C412R C - 1 0 PIWIL3 23475471 0.022000 0.18835 0.000000 0.03702 0.266000 0.26442 -0.216000 0.09266 -1.121000 0.02949 -0.684000 0.03749 TGT NOVEL PIWIL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320084.2 0 3.008786 KEEP 0 0 0 10 302 AA 0.992708 0.992708 0 - 5 60 189 0 0 12.051232 127 60 4608 151 ENST00000332271.5 0.037879 1 KIAA1671 85379 __UNKNOWN__ __UNKNOWN__ 22 25577688 25577688 __UNKNOWN__ Silent SNP G G A rs763279 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25577688G>A ENST00000406486.4 + 11 5484 c.5097G>A c.(5095-5097)gaG>gaA p.E1699E KIAA1671_ENST00000358431.3_Silent_p.E1699E|KIAA1671_ENST00000401395.1_Silent_p.E206E Q9BY89 K1671_HUMAN KIAA1671 1699 NA p.E1699E(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2) 9 CCAGGAAGGAGGAGTCGGATG 0.527 NA A||| 1802 0.359824 0.2269 0.4769 5008 , , NA 19327 0.496 NA 0.3658 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 349,1035 46,257,389 65 68 67 5097 -3.1 0.3 22 dbSNP_86 67 1081,2101 189,703,699 no coding-synonymous KIAA1671 NM_001145206.1 235,960,1088 AA,AG,GG 33.9723,25.2168,31.3184 1699/1807 25577688 1430,3136 692 1591 2283 SO:0001819 synonymous_variant CCDS46676.1 22q11.23 2009-07-09 ENSG00000197077 ENSG00000197077 85379 29345 protein-coding gene gene with protein product NA 15289310 Standard NM_001145206 NM_001145206 NA Approved uc003abn.3 Q9BY89 OTTHUMG00000150841 ENST00000406486.4:c.5097G>A chr22.hg19:g.25577688G>A NA B0QYF2|B7ZW08|Q5THZ5 hg19 CCDS46676.1 0.02 11.447156 GGAxGAG COVERED NOVEL KIAA1671-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320306.6 0 14.14615 KEEP 0 0 0 47 1693 GG 1 1 0 + 17 60 627 0 0 42.874636 267 60 10196 436 ENST00000406486.4 0.059859 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25715774 25715774 __UNKNOWN__ IGR SNP G G A rs78723566 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25715774G>A NA NA RP3-462D8.2 (37516 upstream) : LRP5L (31613 downstream) NA NA p.P132P(1) NA TGTTCCTGCCGTCCTCTGAGG 0.592 NA g||| 256 0.0511182 0.034 0.0663 5008 , , NA 18370 0.1181 NA 0.0169 False NA ,,, NA NA NA 2504 0.0297 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) A 154,4248 812.0+/-416.1 5,144,2052 96 84 88 -2.8 0 22 dbSNP_131 88 116,8484 814.1+/-407.0 0,116,4184 no intergenic 5,260,6236 AA,AG,GG 1.3488,3.4984,2.0766 25715774 270,12732 2201 4300 6501 SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25715774G>A NA hg19 0.02 6.411648 GCCxTCC COVERED NOVEL 0 2 3.009676 KEEP 0 0 0 10 344 GG 0.992708 0.992708 0 8 60 282 0 0 17.878252 169 60 5451 203 0.045198 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25716169 25716169 __UNKNOWN__ IGR SNP T T C rs1883286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25716169T>C NA NA RP3-462D8.2 (37911 upstream) : LRP5L (31218 downstream) NA NA NA AAACCCTCAGTAAATATCCTC 0.537 NA T||| 1075 0.214657 0.2905 0.3199 5008 , , NA 19228 0.2788 NA 0.0885 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25716169T>C NA hg19 0.02 7.136007 CAGxAAA COVERED NOVEL 0 0 6.620266 KEEP 0 0 0 22 709 TT 0.999879 0.999879 0 6 60 234 0 0 14.93178 168 60 5970 245 0.034483 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25732054 25732054 __UNKNOWN__ IGR SNP A A G rs12628414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25732054A>G NA NA RP3-462D8.2 (53796 upstream) : LRP5L (15333 downstream) NA NA NA AGGGACTCCCAGTCTCCAACC 0.512 NA A||| 937 0.187101 0.3661 0.1571 5008 , , NA 20666 0.1111 NA 0.1332 False NA ,,, NA NA NA 2504 0.1002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25732054A>G NA hg19 0.02 2.294284 CCCxGTC COVERED NOVEL 0 0 5.717104 KEEP 0 0 0 19 597 AA 0.99986 0.99897 0 4 60 137 0 0 8.75313 75 60 2817 119 0.050633 0.99911 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 25735922 25735922 __UNKNOWN__ IGR SNP A A G rs575904165|rs6004591 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25735922A>G NA NA RP3-462D8.2 (57664 upstream) : LRP5L (11465 downstream) NA NA NA tgatgatgacaatgatgatga 0.438 NA G||| 835 0.166733 0.4077 0.1427 5008 , , NA 21469 0.12 NA 0.0328 False NA ,,, NA NA NA 2504 0.044 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.25735922A>G NA hg19 0.02 9.97608 GACxATG COVERED NOVEL 0 1 7.822036 KEEP 0 0 0 26 801 AA 0.999957 0.999957 0 8 60 284 0 0 16.439227 273 60 10133 376 0.02847 1 LRP5L 91355 __UNKNOWN__ __UNKNOWN__ 22 25747749 25747749 __UNKNOWN__ 3'UTR SNP G G A rs117171864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:25747749G>A ENST00000402785.2 - 0 872 LRP5L_ENST00000402859.2_3'UTR|LRP5L_ENST00000444995.3_3'UTR A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like NA NA canonical Wnt signaling pathway (GO:0060070)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332) Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TGGGCATGATGCAGGTCTTCA 0.587 NA G||| 129 0.0257588 0.0015 0.0591 5008 , , NA 19857 0.0675 NA 0.0 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 G , 10,4392 15.5+/-35.6 0,10,2191 99 90 93 , 0.9 1 22 dbSNP_132 93 10,8590 7.7+/-29.5 0,10,4290 no utr-3,utr-3 LRP5L NM_001135772.1,NM_182492.2 , 0,20,6481 AA,AG,GG 0.1163,0.2272,0.1538 , , 25747749 20,12982 2201 4300 6501 SO:0001624 3_prime_UTR_variant AL137651 CCDS33626.1 22q11.23 2013-05-30 ENSG00000100068 ENSG00000100068 91355 25323 protein-coding gene gene with protein product NA Standard NM_182492 NM_182492 NA Approved DKFZp434O0213 uc011ajz.2 A4QPB2 OTTHUMG00000150900 ENST00000402785.2:c.*17C>T chr22.hg19:g.25747749G>A NA B0QYF3|B0QYF4|B2RPI5 hg19 CCDS33626.1 0.02 21.888225 GATxCAG COVERED NOVEL LRP5L-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320477.2 1 21.069287 KEEP 0 0 0 70 2524 GG 1 1 0 - 15 60 524 0 0 29.622742 542 60 20678 782 ENST00000402785.2 0.02693 1 ADRBK2 157 __UNKNOWN__ __UNKNOWN__ 22 26118500 26118500 __UNKNOWN__ 3'UTR SNP T T C rs3747127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:26118500T>C ENST00000324198.6 + 0 2342 NM_005160.3 NP_005151.2 P35626 ARBK2_HUMAN adrenergic, beta, receptor kinase 2 NA NA receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032) ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2) 32 Adenosine triphosphate(DB00171) GCATCTGATCTATTCGCTACC 0.582 NA T||| 25 0.00499201 0.0 0.0 5008 , , NA 17081 0.0248 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X69117 CCDS13832.1 22q11 2013-01-10 ENSG00000100077 ENSG00000100077 157 Pleckstrin homology (PH) domain containing 290 protein-coding gene gene with protein product 109636 NA 7695743 Standard NM_005160 NM_005160 NA Approved GRK3, BARK2 uc003abx.4 P35626 OTTHUMG00000150280 ENST00000324198.6:c.*83T>C chr22.hg19:g.26118500T>C NA Q9UGW9 hg19 CCDS13832.1 0.02 7.330214 ATCxATT COVERED NOVEL ADRBK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317296.4 2 11.133496 KEEP 0 0 0 37 1149 TT 1 1 0 + 11 60 403 0 0 28.425047 141 60 5045 231 ENST00000324198.6 0.072368 1 MYO18B 84700 __UNKNOWN__ __UNKNOWN__ 22 26158910 26158910 __UNKNOWN__ Intron SNP C C G rs2331158 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:26158910C>G ENST00000407587.2 + 3 208 MYO18B_ENST00000335473.7_Intron|MYO18B_ENST00000536101.1_Intron Q8IUG5 MY18B_HUMAN myosin XVIIIB NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461) ATP binding (GO:0005524)|motor activity (GO:0003774) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AACCAGCAGCCTTGACCATAC 0.502 NA C||| 2116 0.422524 0.4478 0.3876 5008 , , NA 20499 0.6181 NA 0.2117 False NA ,,, NA NA NA 2504 0.4284 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ310931 CCDS54507.1 22q12.1 2011-09-27 ENSG00000133454 ENSG00000133454 84700 Myosins / Myosin superfamily : Class XVIII 18150 protein-coding gene gene with protein product 607295 NA 12209013, 12547197 Standard NM_032608 NM_032608 NA Approved BK125H2.1 uc003abz.1 Q8IUG5 OTTHUMG00000151129 ENST00000407587.2:c.40-288C>G chr22.hg19:g.26158910C>G NA B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9 hg19 0.02 11.293743 AGCxTTG COVERED NOVEL MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000400691.1 0 7.825191 KEEP 0 0 0 26 906 CC 0.999957 0.999957 0 + 12 60 424 0 0 27.104901 244 60 8876 330 ENST00000407587.2 0.046875 1 MYO18B 84700 __UNKNOWN__ __UNKNOWN__ 22 26164079 26164079 __UNKNOWN__ Intron SNP C C T rs133902 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:26164079C>T ENST00000407587.2 + 4 367 MYO18B_ENST00000335473.7_Intron|MYO18B_ENST00000536101.1_Intron Q8IUG5 MY18B_HUMAN myosin XVIIIB NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461) ATP binding (GO:0005524)|motor activity (GO:0003774) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCTTTCTCCCAGATCCCAGA 0.488 NA T||| 3495 0.697883 0.9266 0.6427 5008 , , NA 21210 0.8254 NA 0.4324 False NA ,,, NA NA NA 2504 0.5695 NA NA NA NA 0 T 3494,630 1494,506,62 111 120 117 2.4 0.4 22 dbSNP_78 117 3666,4750 793,2080,1335 no intron MYO18B NM_032608.5 2287,2586,1397 TT,TC,CC 43.5599,15.2764,42.9027 26164079 7160,5380 2062 4208 6270 SO:0001627 intron_variant AJ310931 CCDS54507.1 22q12.1 2011-09-27 ENSG00000133454 ENSG00000133454 84700 Myosins / Myosin superfamily : Class XVIII 18150 protein-coding gene gene with protein product 607295 NA 12209013, 12547197 Standard NM_032608 NM_032608 NA Approved BK125H2.1 uc003abz.1 Q8IUG5 OTTHUMG00000151129 ENST00000407587.2:c.199-3C>T chr22.hg19:g.26164079C>T NA B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9 hg19 0.02 11.131997 TCCxAGA COVERED NOVEL MYO18B-006 NOVEL non_canonical_conserved|basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000400691.1 1 6.019429 KEEP 0 0 0 20 701 CC 0.999863 0.999863 0 + 9 60 336 0 0 20.869625 254 60 9532 338 ENST00000407587.2 0.034221 1 TPST2 8459 __UNKNOWN__ __UNKNOWN__ 22 26932150 26932150 __UNKNOWN__ Intron SNP G G A rs3752523 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:26932150G>A ENST00000338754.4 - 4 1312 TPST2_ENST00000403880.1_Intron|TPST2_ENST00000398110.2_Intron NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 NA NA fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) protein-tyrosine sulfotransferase activity (GO:0008476) central_nervous_system(1)|large_intestine(1)|lung(5) 7 cagatgaccaggaattgagag 0.473 NA G||| 1992 0.397764 0.3207 0.3674 5008 , , NA 20121 0.378 NA 0.5755 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF049891 CCDS13839.1 22q12.1 2012-12-13 ENSG00000128294 ENSG00000128294 8459 2.8.2.20 Sulfotransferases, membrane-bound 12021 protein-coding gene gene with protein product transport and golgi organization 13 homolog B (Drosophila) 603126 NA 9736702, 9733778 Standard NM_003595 NM_003595 NA Approved TANGO13B uc003acx.3 O60704 OTTHUMG00000150987 ENST00000338754.4:c.1041+103C>T chr22.hg19:g.26932150G>A NA B3KQA7|Q6FI98|Q9H0V4 hg19 CCDS13839.1 0.02 13.178195 CCAxGAA COVERED 939 0.42994505494505497 161 0.32723577235772355 153 0.42265193370165743 193 0.3374125874125874 432 0.5699208443271768 G 11.75 1.730977 0.30684 . . ENSG00000128294 ENST00000445720 . . . 1.96 -0.276 0.12902 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 . . . . . . T 0.44003 -0.9356 4 0.87932 D 0 . 3.0711 0.06231 0.1827:0.2904:0.5269:0.0 rs3752523;rs17403224;rs3752523 . . . L 129 . ENSP00000403758:P129L P - 2 0 TPST2 25262150 0.001000 0.12720 0.000000 0.03702 0.004000 0.04260 0.460000 0.21924 -0.007000 0.14345 0.561000 0.74099 CCT NOVEL TPST2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320820.3 0 3.180496 KEEP 0 2 67 34 1166 GG 0.999999 0.999999 0 - 13 60 471 0 0 30.055419 288 60 10718 388 ENST00000338754.4 0.043189 1 MN1 4330 __UNKNOWN__ __UNKNOWN__ 22 28145505 28145505 __UNKNOWN__ 3'UTR SNP G G A rs45605632 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:28145505G>A ENST00000302326.4 - 0 6315 NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 NA NA intramembranous ossification (GO:0001957) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GCAGGCATCAGCAGCACCCAA 0.493 NA T ETV6 AML, meningioma G||| 83 0.0165735 0.0 0.0 5008 , , NA 15573 0.0764 NA 0.0 False NA ,,, NA NA NA 2504 0.0061 NA NA NA Dom yes 22 22q13 4330 meningioma (disrupted in balanced translocation) 1 L, O 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X82209 CCDS42998.1 22q12.1 2010-09-29 ENSG00000169184 ENSG00000169184 4330 7180 protein-coding gene gene with protein product probable tumor suppressor protein MN1 156100 meningioma chromosome region MGCR NA 7731706, 12569362 Standard NM_002430 NM_002430 NA Approved MGCR1-PEN, MGCR1 uc003adj.3 Q10571 OTTHUMG00000150975 ENST00000302326.4:c.*1398C>T chr22.hg19:g.28145505G>A NA A9Z1V9 hg19 CCDS42998.1 0.02 5.84207 TCAxCAG COVERED NOVEL MN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320737.1 2 28.894359 KEEP 0 0 0 96 3480 GG 1 1 0 - 7 60 244 0 0 14.812584 178 60 6831 356 ENST00000302326.4 0.037838 1 PITPNB 23760 __UNKNOWN__ __UNKNOWN__ 22 28250810 28250810 __UNKNOWN__ Intron SNP C C T rs115485592 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:28250810C>T ENST00000335272.5 - 11 931 PITPNB_ENST00000320996.10_Intron|PITPNB_ENST00000455418.3_Intron NM_012399.3 NP_036531.1 P48739 PIPNB_HUMAN phosphatidylinositol transfer protein, beta NA NA glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139) lipid binding (GO:0008289) large_intestine(4)|lung(3)|skin(1) 8 GTACAGGTTTCGAAACATCTT 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D30037 CCDS13842.1, CCDS63433.1 22q12.1 2006-12-15 ENSG00000180957 ENSG00000180957 23760 9002 protein-coding gene gene with protein product 606876 NA 10591208 Standard NM_012399 NA Approved VIB1B uc003adk.3 P48739 OTTHUMG00000150976 ENST00000335272.5:c.813+31G>A chr22.hg19:g.28250810C>T NA B3KYB8|B7Z7Q0|Q8N5W1 hg19 CCDS13842.1 0.02 19.893853 TTTxGAA COVERED NOVEL PITPNB-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000320740.1 4 69.785039 KEEP 0 2 66 255 8631 CC 1 1 0 - 19 60 705 0 0 45.094519 447 60 16705 939 ENST00000335272.5 0.040773 1 PITPNB 23760 __UNKNOWN__ __UNKNOWN__ 22 28293980 28293980 __UNKNOWN__ Intron SNP G G C rs738451 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:28293980G>C ENST00000335272.5 - 4 274 PITPNB_ENST00000320996.10_Intron|PITPNB_ENST00000455418.3_Intron NM_012399.3 NP_036531.1 P48739 PIPNB_HUMAN phosphatidylinositol transfer protein, beta NA NA glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139) lipid binding (GO:0008289) large_intestine(4)|lung(3)|skin(1) 8 AAGGTGACCAGGTTCTAAGTC 0.313 NA C||| 3170 0.632987 0.7927 0.611 5008 , , NA 19702 0.6667 NA 0.4264 False NA ,,, NA NA NA 2504 0.6104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D30037 CCDS13842.1, CCDS63433.1 22q12.1 2006-12-15 ENSG00000180957 ENSG00000180957 23760 9002 protein-coding gene gene with protein product 606876 NA 10591208 Standard NM_012399 NA Approved VIB1B uc003adk.3 P48739 OTTHUMG00000150976 ENST00000335272.5:c.198-100C>G chr22.hg19:g.28293980G>C NA B3KYB8|B7Z7Q0|Q8N5W1 hg19 CCDS13842.1 0.02 7.681474 CCAxGTT COVERED NOVEL PITPNB-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000320740.1 0 7.523992 KEEP 0 0 0 25 848 GG 0.999931 0.999931 0 - 13 60 401 0 0 24.593848 235 60 8324 280 ENST00000335272.5 0.052419 1 TTC28 23331 __UNKNOWN__ __UNKNOWN__ 22 28375675 28375675 __UNKNOWN__ 3'UTR SNP A A G rs2294820 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:28375675A>G ENST00000397906.2 - 0 10121 TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000425112.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000430525.1_RNA NM_001145418.1 NP_001138890.1 Q96AY4 TTC28_HUMAN tetratricopeptide repeat domain 28 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3) 12 GAATTATACAATTTCCTTTAA 0.388 NA A||| 484 0.0966454 0.0681 0.072 5008 , , NA 11832 0.1706 NA 0.0596 False NA ,,, NA NA NA 2504 0.1145 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028966 CCDS46678.1 22q12.1 2013-01-10 ENSG00000100154 ENSG00000100154 23331 Tetratricopeptide (TTC) repeat domain containing 29179 protein-coding gene gene with protein product 615098 NA 10470851 Standard XM_929318 NM_001145418 NA Approved KIAA1043 uc003adp.4 Q96AY4 OTTHUMG00000151006 ENST00000397906.2:c.*2534T>C chr22.hg19:g.28375675A>G NA K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5 hg19 CCDS46678.1 0.02 4.299873 ACAxTTT COVERED NOVEL TTC28-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320930.2 0 13.493274 KEEP 0 0 0 45 1362 AA 1 1 0 - 8 60 298 0 0 20.488031 125 60 4421 198 ENST00000397906.2 0.06015 1 TTC28 23331 __UNKNOWN__ __UNKNOWN__ 22 28389258 28389258 __UNKNOWN__ Intron SNP C C T rs5752679 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:28389258C>T ENST00000397906.2 - 18 5618 TTC28-AS1_ENST00000433317.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000428584.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000430525.1_RNA NM_001145418.1 NP_001138890.1 Q96AY4 TTC28_HUMAN tetratricopeptide repeat domain 28 NA NA mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346) centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3) 12 TGCCCCAGCCCTACACCCACA 0.657 NA C||| 358 0.0714856 0.0378 0.0418 5008 , , NA 17652 0.1329 NA 0.0417 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 7 10 9 NA NA 22 NA 28389258 680 1568 2248 SO:0001627 intron_variant AB028966 CCDS46678.1 22q12.1 2013-01-10 ENSG00000100154 ENSG00000100154 23331 Tetratricopeptide (TTC) repeat domain containing 29179 protein-coding gene gene with protein product 615098 NA 10470851 Standard XM_929318 NM_001145418 NA Approved KIAA1043 uc003adp.4 Q96AY4 OTTHUMG00000151006 ENST00000397906.2:c.5476+16G>A chr22.hg19:g.28389258C>T NA K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5 hg19 CCDS46678.1 0.02 2.112818 GCCxTAC COVERED NOVEL TTC28-001 NOVEL not_organism_supported|basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320930.2 0 5.417127 KEEP 0 0 0 18 626 CC 0.999859 0.998727 0 - 5 60 184 0 0 12.753379 72 60 2662 120 ENST00000397906.2 0.064935 0.998867 CCDC117 150275 __UNKNOWN__ __UNKNOWN__ 22 29182500 29182500 __UNKNOWN__ 3'UTR SNP C C A rs5762795 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29182500C>A ENST00000249064.4 + 0 1202 CCDC117_ENST00000421503.2_3'UTR|CCDC117_ENST00000443309.2_3'UTR NM_001284263.1|NM_001284265.1|NM_173510.2 NP_001271192.1|NP_001271194.1|NP_775781.1 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 NA NA breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1) 7 TTGCCAAGGACGTTTGTCTCA 0.398 NA A||| 2658 0.530751 0.6899 0.3401 5008 , , NA 19604 0.6518 NA 0.2972 False NA ,,, NA NA NA 2504 0.5665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091133 CCDS13846.1, CCDS63435.1, CCDS63436.1 22q12.1 2006-06-27 ENSG00000159873 ENSG00000159873 150275 26599 protein-coding gene gene with protein product NA 12477932 Standard NM_173510 NM_001284263 NA Approved FLJ33814 uc003aeb.3 Q8IWD4 OTTHUMG00000151091 ENST00000249064.4:c.*186C>A chr22.hg19:g.29182500C>A NA A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278 hg19 CCDS13846.1 0.02 4.338953 GGAxGTT COVERED NOVEL CCDC117-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321258.1 3 16.852676 KEEP 0 0 0 56 1914 CC 1 1 0 + 9 60 295 0 0 19.516942 132 60 4800 251 ENST00000249064.4 0.06383 1 XBP1 7494 __UNKNOWN__ __UNKNOWN__ 22 29196494 29196494 __UNKNOWN__ Missense_Mutation SNP C C T rs5762809 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29196494C>T ENST00000403532.3 - 1 52 c.19G>A c.(19-21)Gcg>Acg p.A7T XBP1_ENST00000216037.6_Missense_Mutation_p.A7T|XBP1_ENST00000344347.5_Missense_Mutation_p.A7T P17861 XBP1_HUMAN X-box binding protein 1 7 NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial cell maturation involved in salivary gland development (GO:0060691)|exocrine pancreas development (GO:0031017)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|serotonin secretion, neurotransmission (GO:0060096) nucleoplasm (GO:0005654)|nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|endometrium(1)|large_intestine(1)|lung(1) 5 GGGTTCGGCGCGGCTGCCACC 0.756 NA C||| 697 0.139177 0.0053 0.0793 5008 , , NA 9473 0.1905 NA 0.1362 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 2 2 2 NA NA 22 NA 29196494 1174 2823 3997 SO:0001583 missense M31627 CCDS13847.1 22q12.1 2013-01-10 ENSG00000100219 ENSG00000100219 7494 basic leucine zipper proteins 12801 protein-coding gene gene with protein product 194355 XBP2 NA 1718857, 2196176 Standard NM_005080 NM_001079539 NA Approved uc003aec.3 P17861 OTTHUMG00000151094 ENST00000403532.3:c.19G>A chr22.hg19:g.29196494C>T ENSP00000385162:p.Ala7Thr NA Q8WYK6|Q969P1|Q96BD7 hg19 0.02 6.801502 GCGxGGC COVERED 232 0.10622710622710622 8 0.016260162601626018 29 0.08011049723756906 86 0.15034965034965034 109 0.1437994722955145 C 26.7 4.763140 0.89932 . . ENSG00000100219 ENST00000216037;ENST00000403532;ENST00000344347 . . . 4.42 3.39 0.38822 . 0.201478 0.41823 D 0.000814 T 0.00241 0.0007 L 0.36672 1.1 0.31953 P 0.6093580000000001 B 0.16396 0.017 B 0.12156 0.007 T 0.06338 -1.0832 8 0.59425 D 0.04 . 7.9749 0.30149 0.0:0.7529:0.16:0.0871 rs5762809;rs61250194 7 P17861-2 . T 7 . ENSP00000216037:A7T A - 1 0 XBP1 27526494 0.856000 0.29760 0.998000 0.56505 0.551000 0.35334 0.807000 0.27140 1.209000 0.43321 0.563000 0.77884 GCG NOVEL XBP1-006 NOVEL basic|appris_candidate_longest|exp_conf protein_coding NA protein_coding OTTHUMT00000321279.1 1 67.105377 KEEP 0 0 0 223 7425 CC 1 1 0 - 14 60 497 0 0 35.129426 163 60 5485 544 ENST00000403532.3 0.079096 1 ZNRF3 84133 __UNKNOWN__ __UNKNOWN__ 22 29279991 29279991 __UNKNOWN__ Silent SNP C C T rs1065497 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29279991C>T ENST00000544604.2 + 1 412 c.237C>T c.(235-237)acC>acT p.T79T ZNRF3_ENST00000332811.4_5'UTR NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 79 NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) integral component of plasma membrane (GO:0005887) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CCTACACCACCGGCCTCACGG 0.771 NA C||| 2363 0.471845 0.6127 0.3314 5008 , , NA 2986 0.5744 NA 0.2604 False NA ,,, NA NA NA 2504 0.4928 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB051436 CCDS42999.1, CCDS56225.1 22q12.1 2013-01-09 ENSG00000183579 ENSG00000183579 84133 RING-type (C3HC4) zinc fingers 18126 protein-coding gene gene with protein product 612062 NA 10574461 Standard XM_290972 NM_032173 NA Approved KIAA1133, BK747E2.3, FLJ22057, RNF203 uc003aeg.3 Q9ULT6 OTTHUMG00000151009 ENST00000544604.2:c.237C>T chr22.hg19:g.29279991C>T NA B3KU18|Q6ICH1|Q6NTF8|Q8WU18 hg19 CCDS56225.1 0.02 4.98966 CACxGGC COVERED NOVEL ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320943.2 1 31.59335 KEEP 0 0 0 105 3601 CC 1 0.999968 0 + 5 60 194 0 0 13.146389 96 60 3220 297 ENST00000544604.2 0.049505 0.999968 ZNRF3 84133 __UNKNOWN__ __UNKNOWN__ 22 29414001 29414001 __UNKNOWN__ Intron SNP A A G rs2347790 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29414001A>G ENST00000544604.2 + 3 601 ZNRF3_ENST00000406323.3_Intron|ZNRF3_ENST00000402174.1_Intron|ZNRF3_ENST00000332811.4_Intron|ZNRF3-IT1_ENST00000412798.1_RNA NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) integral component of plasma membrane (GO:0005887) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GTATGCCTTAACTTTTCAGAA 0.522 NA A||| 1994 0.398163 0.2799 0.4899 5008 , , NA 20646 0.4345 NA 0.4881 False NA ,,, NA NA NA 2504 0.363 NA NA NA NA 0 A , 588,1164 95,398,383 137 120 125 , 1.7 0.3 22 dbSNP_100 125 1978,2004 482,1014,495 no intron,intron ZNRF3 NM_001206998.1,NM_032173.3 , 577,1412,878 GG,GA,AA 49.6735,33.5616,44.7506 , , 29414001 2566,3168 876 1991 2867 SO:0001627 intron_variant AB051436 CCDS42999.1, CCDS56225.1 22q12.1 2013-01-09 ENSG00000183579 ENSG00000183579 84133 RING-type (C3HC4) zinc fingers 18126 protein-coding gene gene with protein product 612062 NA 10574461 Standard XM_290972 NM_032173 NA Approved KIAA1133, BK747E2.3, FLJ22057, RNF203 uc003aeg.3 Q9ULT6 OTTHUMG00000151009 ENST00000544604.2:c.427-24482A>G chr22.hg19:g.29414001A>G NA B3KU18|Q6ICH1|Q6NTF8|Q8WU18 hg19 CCDS56225.1 0.02 8.975484 TTAxCTT COVERED NOVEL ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320943.2 2 18.35215 KEEP 0 0 0 61 1898 AA 1 1 0 + 11 60 404 0 0 26.105762 237 60 8328 365 ENST00000544604.2 0.044355 1 ZNRF3 84133 __UNKNOWN__ __UNKNOWN__ 22 29449477 29449477 __UNKNOWN__ Intron SNP A A G rs2294239 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29449477A>G ENST00000544604.2 + 9 2942 ZNRF3_ENST00000406323.3_Intron|ZNRF3_ENST00000402174.1_Intron|ZNRF3_ENST00000332811.4_Intron NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) integral component of plasma membrane (GO:0005887) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GGCCTGCCACATGCTGGGGAC 0.592 NA A||| 1887 0.376797 0.1785 0.4539 5008 , , NA 16543 0.4395 NA 0.4056 False NA ,,, NA NA NA 2504 0.4959 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB051436 CCDS42999.1, CCDS56225.1 22q12.1 2013-01-09 ENSG00000183579 ENSG00000183579 84133 RING-type (C3HC4) zinc fingers 18126 protein-coding gene gene with protein product 612062 NA 10574461 Standard XM_290972 NM_032173 NA Approved KIAA1133, BK747E2.3, FLJ22057, RNF203 uc003aeg.3 Q9ULT6 OTTHUMG00000151009 ENST00000544604.2:c.2768-90A>G chr22.hg19:g.29449477A>G NA B3KU18|Q6ICH1|Q6NTF8|Q8WU18 hg19 CCDS56225.1 0.02 3.055732 CACxTGC COVERED NOVEL ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320943.2 1 3.008554 KEEP 0 0 0 10 307 AA 0.992708 0.992705 0 + 6 60 176 0 0 10.20833 111 60 3982 130 ENST00000544604.2 0.051282 0.999998 ZNRF3 84133 __UNKNOWN__ __UNKNOWN__ 22 29450923 29450923 __UNKNOWN__ 3'UTR SNP A A G rs2179129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29450923A>G ENST00000544604.2 + 0 4299 ZNRF3_ENST00000332811.4_3'UTR NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) integral component of plasma membrane (GO:0005887) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GATGTCTACTATCCTGTCTAC 0.443 NA A||| 1854 0.370208 0.149 0.4467 5008 , , NA 18306 0.4405 NA 0.3996 False NA ,,, NA NA NA 2504 0.5123 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051436 CCDS42999.1, CCDS56225.1 22q12.1 2013-01-09 ENSG00000183579 ENSG00000183579 84133 RING-type (C3HC4) zinc fingers 18126 protein-coding gene gene with protein product 612062 NA 10574461 Standard XM_290972 NM_032173 NA Approved KIAA1133, BK747E2.3, FLJ22057, RNF203 uc003aeg.3 Q9ULT6 OTTHUMG00000151009 ENST00000544604.2:c.*1313A>G chr22.hg19:g.29450923A>G NA B3KU18|Q6ICH1|Q6NTF8|Q8WU18 hg19 CCDS56225.1 0.02 7.189505 ACTxTCC COVERED NOVEL ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320943.2 0 4.750079 KEEP 0 1 38 29 896 AA 0.999997 0.999997 0 + 11 70 424 0 0 30.044049 156 60 5681 245 ENST00000544604.2 0.065868 1 ZNRF3 84133 __UNKNOWN__ __UNKNOWN__ 22 29451671 29451671 __UNKNOWN__ 3'UTR SNP A A G rs4823006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29451671A>G ENST00000544604.2 + 0 5047 ZNRF3_ENST00000332811.4_3'UTR NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) integral component of plasma membrane (GO:0005887) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TCGGGCCAGGAGTAGCAGCTG 0.527 NA A||| 2275 0.454273 0.2791 0.4942 5008 , , NA 19547 0.5377 NA 0.4274 False NA ,,, NA NA NA 2504 0.6043 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051436 CCDS42999.1, CCDS56225.1 22q12.1 2013-01-09 ENSG00000183579 ENSG00000183579 84133 RING-type (C3HC4) zinc fingers 18126 protein-coding gene gene with protein product 612062 NA 10574461 Standard XM_290972 NM_032173 NA Approved KIAA1133, BK747E2.3, FLJ22057, RNF203 uc003aeg.3 Q9ULT6 OTTHUMG00000151009 ENST00000544604.2:c.*2061A>G chr22.hg19:g.29451671A>G NA B3KU18|Q6ICH1|Q6NTF8|Q8WU18 hg19 CCDS56225.1 0.02 10.14157 AGGxGTA COVERED NOVEL ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320943.2 2 9.298283 KEEP 0 2 66 54 1737 AA 1 1 0 + 9 60 305 0 0 17.986097 242 60 9017 379 ENST00000544604.2 0.035857 1 ZNRF3 84133 __UNKNOWN__ __UNKNOWN__ 22 29453193 29453193 __UNKNOWN__ 3'UTR SNP G G C rs12321 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29453193G>C ENST00000544604.2 + 0 6569 ZNRF3_ENST00000332811.4_3'UTR NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 NA NA canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) integral component of plasma membrane (GO:0005887) frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TGTATATTCTGTATATGTATA 0.269 NA G||| 2033 0.40595 0.2443 0.4654 5008 , , NA 15298 0.4454 NA 0.4165 False NA ,,, NA NA NA 2504 0.5307 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051436 CCDS42999.1, CCDS56225.1 22q12.1 2013-01-09 ENSG00000183579 ENSG00000183579 84133 RING-type (C3HC4) zinc fingers 18126 protein-coding gene gene with protein product 612062 NA 10574461 Standard XM_290972 NM_032173 NA Approved KIAA1133, BK747E2.3, FLJ22057, RNF203 uc003aeg.3 Q9ULT6 OTTHUMG00000151009 ENST00000544604.2:c.*3583G>C chr22.hg19:g.29453193G>C NA B3KU18|Q6ICH1|Q6NTF8|Q8WU18 hg19 CCDS56225.1 0.02 6.536748 TCTxTAT COVERED NOVEL ZNRF3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320943.2 0 9.565388 KEEP 0 1 32 43 1494 GG 1 1 0 + 8 60 300 0 0 19.728205 166 60 6257 248 ENST00000544604.2 0.045977 1 C22orf31 25770 __UNKNOWN__ __UNKNOWN__ 22 29454778 29454778 __UNKNOWN__ Silent SNP G G A rs2072775 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29454778G>A ENST00000216071.4 - 3 876 c.825C>T c.(823-825)caC>caT p.H275H NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 275 NA cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 CAGGCTCCTCGTGGACACCTG 0.478 NA G||| 273 0.0545128 0.0015 0.1066 5008 , , NA 20157 0.1597 NA 0.0119 False NA ,,, NA NA NA 2504 0.0245 NA NA NA NA 0 G 15,4391 22.3+/-47.3 0,15,2188 113 100 105 825 -10.4 0 22 dbSNP_96 105 94,8506 53.1+/-113.8 4,86,4210 no coding-synonymous C22orf31 NM_015370.1 4,101,6398 AA,AG,GG 1.093,0.3404,0.8381 275/291 29454778 109,12897 2203 4300 6503 SO:0001819 synonymous_variant AL035364 CCDS13848.1 22q12.1 2006-07-05 ENSG00000100249 ENSG00000100249 25770 26931 protein-coding gene gene with protein product NA 15461802 Standard NM_015370 XM_005261490 NA Approved HS747E2A, bK747E2.1 uc003aej.1 O95567 OTTHUMG00000151011 ENST00000216071.4:c.825C>T chr22.hg19:g.29454778G>A NA A0AV97 hg19 CCDS13848.1 0.02 15.423642 CTCxTGG COVERED NOVEL C22orf31-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320952.1 1 21.36878 KEEP 0 0 0 71 2479 GG 1 1 0 - 17 60 618 0 0 39.426501 381 60 13336 567 ENST00000216071.4 0.042714 1 RFPL1 5988 __UNKNOWN__ __UNKNOWN__ 22 29834766 29834766 __UNKNOWN__ 5'UTR SNP A A G rs465736 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29834766A>G ENST00000354373.2 + 0 195 RFPL1S_ENST00000461286.3_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 NA NA zinc ion binding (GO:0008270) endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 AAGCTGGGACACAATACCTTT 0.458 NA -||| 515 0.102835 0.0522 0.1383 5008 , , NA 20461 0.0486 NA 0.1481 False NA ,,, NA NA NA 2504 0.1554 NA NA NA NA 0 A 298,4094 12,274,1910 95 91 92 -3.8 0 22 dbSNP_80 92 1400,7188 105,1190,2999 no utr-5 RFPL1 NM_021026.2 117,1464,4909 GG,GA,AA 16.3018,6.7851,13.0817 29834766 1698,11282 2196 4294 6490 SO:0001623 5_prime_UTR_variant AJ010228 CCDS13857.2 22q12 2006-04-25 ENSG00000128250 ENSG00000128250 5988 RING-type (C3HC4) zinc fingers 9977 protein-coding gene gene with protein product 605968 NA 10508838 Standard NM_021026 NM_021026 NA Approved RNF78 uc003afn.3 O75677 OTTHUMG00000150516 ENST00000354373.2:c.-15A>G chr22.hg19:g.29834766A>G NA Q6IC06|Q9UJ97 hg19 CCDS13857.2 0.02 22.84121 GACxCAA COVERED NOVEL RFPL1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318719.1 2 18.353177 KEEP 0 0 0 61 1866 AA 1 1 0 + 18 60 601 0 0 33.704895 612 60 22316 814 ENST00000354373.2 0.028571 1 NEFH 4744 __UNKNOWN__ __UNKNOWN__ 22 29879290 29879290 __UNKNOWN__ Intron SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29879290C>A ENST00000310624.6 + 2 916 NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide NA NA axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513) axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883) dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 agaaaaagaacaaagaAAAAA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13858.1 22q12.2 2013-01-16 2008-09-19 ENSG00000100285 ENSG00000100285 4744 Intermediate filaments type IV 7737 protein-coding gene gene with protein product 162230 neurofilament, heavy polypeptide 200kDa NA Standard NM_021076 NM_021076 NA Approved uc003afo.3 P12036 OTTHUMG00000151155 ENST00000310624.6:c.884-74C>A chr22.hg19:g.29879290C>A NA B4DYY4|Q96HF8|Q9UJS7|Q9UQ14 hg19 CCDS13858.1 0.02 1.857699 GAAxAAA COVERED NOVEL NEFH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321553.2 3 6.140387 KEEP 0 9 76 50 1437 CC 1 1 0 + 24 60 295 0 0 11.252032 169 60 4928 274 ENST00000310624.6 0.124352 1 NEFH 4744 __UNKNOWN__ __UNKNOWN__ 22 29886043 29886043 __UNKNOWN__ Missense_Mutation SNP A A C rs165602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29886043A>C ENST00000310624.6 + 4 2447 c.2414A>C c.(2413-2415)gAg>gCg p.E805A NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 811 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. NA axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513) axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883) dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198) cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CCCCTGAAGGAGGATGCCAAG 0.552 NA A||| 600 0.119808 0.1135 0.1297 5008 , , NA 18679 0.0526 NA 0.1421 False NA ,,, NA NA NA 2504 0.1677 NA NA NA NA 0 A ALA/GLU 567,3839 241.5+/-251.9 42,483,1678 41 44 43 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 2414 5.4 1 22 dbSNP_79 43 1313,7285 247.6+/-275.6 86,1141,3072 yes missense NEFH NM_021076.3 107 128,1624,4750 CC,CA,AA 15.271,12.8688,14.4571 probably-damaging 805/1021 29886043 1880,11124 2203 4299 6502 SO:0001583 missense CCDS13858.1 22q12.2 2013-01-16 2008-09-19 ENSG00000100285 ENSG00000100285 4744 Intermediate filaments type IV 7737 protein-coding gene gene with protein product 162230 neurofilament, heavy polypeptide 200kDa NA Standard NM_021076 NM_021076 NA Approved uc003afo.3 P12036 OTTHUMG00000151155 ENST00000310624.6:c.2414A>C chr22.hg19:g.29886043A>C ENSP00000311997:p.Glu805Ala NA B4DYY4|Q96HF8|Q9UJS7|Q9UQ14 hg19 CCDS13858.1 0.02 6.678621 AGGxGGA COVERED 252 0.11538461538461539 59 0.11991869918699187 54 0.14917127071823205 25 0.043706293706293704 114 0.1503957783641161 A 16.98 3.271851 0.59649 0.128688 0.15271 ENSG00000100285 ENST00000328842;ENST00000310624 D 0.86164 -2.08 5.42 5.42 0.78866 . 0.129681 0.34932 N 0.003568 T 0.03651 0.0104 L 0.55834 1.745 0.09310 P 0.999999213389 D 0.56035 0.974 P 0.50352 0.638 T 0.52208 -0.8606 9 0.87932 D 0 . 15.4256 0.75048 1.0:0.0:0.0:0.0 rs165602;rs695847;rs16987680;rs52801416;rs58898655;rs165602 811 P12036 NFH_HUMAN A 756;805 ENSP00000311997:E805A ENSP00000311997:E805A E + 2 0 NEFH 28216043 0.995000 0.38212 0.988000 0.46212 0.657000 0.38888 3.316000 0.51960 2.190000 0.69967 0.533000 0.62120 GAG NOVEL NEFH-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321553.2 3 10.796471 KEEP 0 0 0 36 1097 AA 0.999999 0.999999 0 + 9 60 311 0 0 19.630005 183 60 6741 262 ENST00000310624.6 0.046875 1 THOC5 8563 __UNKNOWN__ __UNKNOWN__ 22 29938677 29938677 __UNKNOWN__ Intron SNP C C T rs2240637 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:29938677C>T ENST00000490103.1 - 5 575 THOC5_ENST00000397873.2_Intron|THOC5_ENST00000397871.1_Intron|THOC5_ENST00000397872.1_Intron NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 NA NA blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784) cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346) mRNA binding (GO:0003729) NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 tgcttgaacccgggaggtgga 0.512 NA C||| 1125 0.224641 0.1036 0.196 5008 , , NA 17759 0.4127 NA 0.2416 False NA ,,, NA NA NA 2504 0.1973 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB023200 CCDS13859.1 22q12 2013-02-11 ENSG00000100296 ENSG00000100296 8563 THO complex subunits 19074 protein-coding gene gene with protein product functional spliceosome-associated protein 79 612733 chromosome 22 open reading frame 19 C22orf19 NA 11979277, 8242058, 10231032, 19015024, 18373705 Standard NM_003678 NM_003678 NA Approved PK1.3, KIAA0983, Fmip, fSAP79 uc003afs.3 Q13769 OTTHUMG00000151291 ENST00000490103.1:c.452+170G>A chr22.hg19:g.29938677C>T NA O60839|Q9UPZ5 hg19 CCDS13859.1 0.02 -0.421088 ACCxGGG COVERED NOVEL THOC5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322097.1 1 2.641471 KEEP 1 1 23 17 566 CC 0.999366 0.947801 0 - 3 60 110 0 0 7.587771 44 60 1575 69 ENST00000490103.1 0.06383 0.948402 NF2 4771 __UNKNOWN__ __UNKNOWN__ 22 30081510 30081510 __UNKNOWN__ Intron SNP C C T rs184976042 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30081510C>T ENST00000338641.4 + 15 2178 NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Intron|NF2_ENST00000397789.3_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Intron|NF2_ENST00000353887.4_Intron|NF2_ENST00000361676.4_Intron NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) NA NA actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010) adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) p.?(3) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 gatcctcccacgtcagcctcc 0.458 NA D, Mis, N, F, S, O meningioma, acoustic neuroma, renal meningioma, acoustic neuroma Neurofibromatosis, type 2 C||| 20 0.00399361 0.0 0.0 5008 , , NA 20739 0.0188 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA yes Rec yes Neurofibromatosis type 2 22 22q12.2 4771 neurofibromatosis type 2 gene O 3 Unknown(3) large_intestine(1)|stomach(1)|central_nervous_system(1) NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis L11353 CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1 22q12.2 2014-09-17 2007-12-17 ENSG00000186575 ENSG00000186575 4771 A-kinase anchor proteins 7773 protein-coding gene gene with protein product moesin-ezrin-radixin like, schwannomin 607379 neurofibromin 2 (bilateral acoustic neuroma) NA 10591208 Standard NM_000268 NM_000268 NA Approved merlin uc003age.4 P35240 OTTHUMG00000030727 ENST00000338641.4:c.1737+3920C>T chr22.hg19:g.30081510C>T NA O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4 hg19 CCDS13861.1 0.02 -0.070182 CCAxGTC UNCOVERED NOVEL NF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075615.3 2 2.407876 KEEP 0 0 0 8 284 CC 0.99257 0.053735 0 + 2 60 78 0 0 6.800626 6 60 207 23 ENST00000338641.4 0.25 0.054137 NF2 4771 __UNKNOWN__ __UNKNOWN__ 22 30092040 30092040 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30092040A>C ENST00000338641.4 + 0 3478 NF2_ENST00000347330.5_3'UTR|NF2_ENST00000413209.2_3'UTR|NF2_ENST00000361452.4_3'UTR NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) NA NA actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010) adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) p.?(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GTCTGGGGCCACCTTCTTGCC 0.552 NA D, Mis, N, F, S, O meningioma, acoustic neuroma, renal meningioma, acoustic neuroma Neurofibromatosis, type 2 NA NA NA NA NA NA NA NA NA yes Rec yes Neurofibromatosis type 2 22 22q12.2 4771 neurofibromatosis type 2 gene O 1 Unknown(1) stomach(1) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis L11353 CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1 22q12.2 2014-09-17 2007-12-17 ENSG00000186575 ENSG00000186575 4771 A-kinase anchor proteins 7773 protein-coding gene gene with protein product moesin-ezrin-radixin like, schwannomin 607379 neurofibromin 2 (bilateral acoustic neuroma) NA 10591208 Standard NM_000268 NM_000268 NA Approved merlin uc003age.4 P35240 OTTHUMG00000030727 ENST00000338641.4:c.*1249A>C chr22.hg19:g.30092040A>C NA O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4 hg19 CCDS13861.1 0.02 2.444564 GCCxCCT COVERED NOVEL NF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075615.3 9 8.006996 KEEP 0 4 50 45 1303 AA 1 1 0 + 12 60 209 1 0 9.645506 128 60 4207 290 ENST00000338641.4 0.085714 1 NF2 4771 __UNKNOWN__ __UNKNOWN__ 22 30094065 30094065 __UNKNOWN__ 3'UTR SNP G G A rs11090576 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30094065G>A ENST00000338641.4 + 0 5503 NF2_ENST00000347330.5_3'UTR|NF2_ENST00000413209.2_3'UTR|NF2_ENST00000361452.4_3'UTR NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) NA NA actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010) adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726) p.?(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 GCCAGTAGCCGTGTGCAGCTG 0.577 NA D, Mis, N, F, S, O meningioma, acoustic neuroma, renal meningioma, acoustic neuroma Neurofibromatosis, type 2 G||| 723 0.144369 0.2194 0.1297 5008 , , NA 17435 0.0625 NA 0.1014 False NA ,,, NA NA NA 2504 0.182 NA NA NA yes Rec yes Neurofibromatosis type 2 22 22q12.2 4771 neurofibromatosis type 2 gene O 1 Unknown(1) stomach(1) NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis L11353 CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1 22q12.2 2014-09-17 2007-12-17 ENSG00000186575 ENSG00000186575 4771 A-kinase anchor proteins 7773 protein-coding gene gene with protein product moesin-ezrin-radixin like, schwannomin 607379 neurofibromin 2 (bilateral acoustic neuroma) NA 10591208 Standard NM_000268 NM_000268 NA Approved merlin uc003age.4 P35240 OTTHUMG00000030727 ENST00000338641.4:c.*3274G>A chr22.hg19:g.30094065G>A NA O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4 hg19 CCDS13861.1 0.02 10.624287 GCCxTGT COVERED NOVEL NF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075615.3 0 14.145001 KEEP 0 0 0 47 1609 GG 1 1 0 + 15 60 532 0 0 34.831966 271 60 9245 368 ENST00000338641.4 0.052448 1 GATSL3 652968 __UNKNOWN__ __UNKNOWN__ 22 30683285 30683285 __UNKNOWN__ Intron SNP C C G rs5753058 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30683285C>G ENST00000407689.3 - 4 502 RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_Intron|GATSL3_ENST00000459785.1_Intron NM_001037666.2 NP_001032755.1 Q8WTX7 GATL3_HUMAN GATS protein-like 3 NA NA breast(1)|endometrium(1)|lung(1) 3 ACCTGGGCCACAGCAGATGGC 0.602 NA OREG0026457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 793 0.158347 0.1346 0.1614 5008 , , NA 21316 0.1448 NA 0.2535 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 C 643,3697 53,537,1580 57 61 60 -5.4 0 22 dbSNP_114 60 2166,6388 285,1596,2396 no intron GATSL3 NM_001037666.2 338,2133,3976 GG,GC,CC 25.3215,14.8157,21.7853 30683285 2809,10085 2170 4277 6447 SO:0001627 intron_variant CCDS43001.1 22q12 2010-06-23 ENSG00000239282 ENSG00000239282 652968 34423 protein-coding gene gene with protein product NA Standard NM_001037666 NM_001037666 NA Approved Q8WTX7 OTTHUMG00000150929 ENST00000407689.3:c.373-9G>C chr22.hg19:g.30683285C>G 819 O76052|Q96ND9|Q9UIE8 hg19 CCDS43001.1 0.02 15.293502 CCAxAGC COVERED NOVEL GATSL3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320581.2 3 46.951294 KEEP 0 0 0 156 5481 CC 1 1 0 - 11 60 417 0 0 25.202084 379 60 14318 643 ENST00000407689.3 0.028205 1 TBC1D10A 83874 __UNKNOWN__ __UNKNOWN__ 22 30700607 30700607 __UNKNOWN__ Silent SNP T T G rs4823089 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30700607T>G ENST00000403477.3 - 2 262 c.243A>C c.(241-243)gtA>gtC p.V81V TBC1D10A_ENST00000403362.1_5'UTR|TBC1D10A_ENST00000490449.1_5'UTR|TBC1D10A_ENST00000215790.7_Silent_p.V74V NM_001204240.1 NP_001191169.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 74 NA activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147) extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886) guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CCTCCAGGGGTACTTCCTCCA 0.607 NA G||| 792 0.158147 0.1384 0.1571 5008 , , NA 21842 0.1448 NA 0.2535 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 G , 682,3724 762.1+/-413.1 57,568,1578 78 60 66 243,222 -1.9 1 22 dbSNP_111 66 2208,6392 709.0+/-405.7 288,1632,2380 no coding-synonymous,coding-synonymous TBC1D10A NM_001204240.1,NM_031937.2 , 345,2200,3958 GG,GT,TT 25.6744,15.4789,22.2205 , 81/516,74/509 30700607 2890,10116 2203 4300 6503 SO:0001819 synonymous_variant AF331038 CCDS13874.1, CCDS56227.1 22q12.2 2013-07-09 2005-03-10 2005-03-10 ENSG00000099992 ENSG00000099992 83874 23609 protein-coding gene gene with protein product EBP50-PDZ interactor of 64 kD 610020 TBC1 domain family, member 10 TBC1D10 NA 11285285, 20404108 Standard NM_031937 NM_001204240 NA Approved EPI64, AC004997.C22.2 uc010gvu.3 Q9BXI6 OTTHUMG00000150924 ENST00000403477.3:c.243A>C chr22.hg19:g.30700607T>G NA B3KXT8|O76053|Q20WK7|Q543A2 hg19 CCDS56227.1 0.02 12.761812 GGGxACT COVERED NOVEL TBC1D10A-002 NOVEL basic|appris_candidate_longest|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000320551.1 0 44.188788 KEEP 0 0 0 147 4398 TT 1 1 0 - 10 60 363 0 0 21.666853 317 60 10742 614 ENST00000403477.3 0.030581 1 SF3A1 10291 __UNKNOWN__ __UNKNOWN__ 22 30730711 30730711 __UNKNOWN__ Intron SNP A A G rs5749063 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30730711A>G ENST00000215793.8 - 16 2435 SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa NA NA gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GTGCCTTAGCATGGGGCAACC 0.517 NA a||| 770 0.153754 0.1324 0.1571 5008 , , NA 19221 0.1448 NA 0.2535 False NA ,,, NA NA NA 2504 0.0869 NA NA NA NA 0 G , 667,3739 282.5+/-276.6 56,555,1592 88 72 77 , -7 0 22 dbSNP_114 77 2204,6396 375.8+/-337.9 286,1632,2382 no intron,intron SF3A1 NM_001005409.1,NM_005877.4 , 342,2187,3974 GG,GA,AA 25.6279,15.1384,22.0744 , , 30730711 2871,10135 2203 4300 6503 SO:0001627 intron_variant X85237 CCDS13875.1 22q12.2 2014-09-17 2002-08-29 ENSG00000099995 ENSG00000099995 10291 10765 protein-coding gene gene with protein product 605595 splicing factor 3a, subunit 1, 120kD NA 7489498 Standard NM_005877 NM_005877 NA Approved SF3a120, SAP114, PRPF21, Prp21 uc003ahl.3 Q15459 OTTHUMG00000151005 ENST00000215793.8:c.2281-27T>C chr22.hg19:g.30730711A>G NA E9PAW1 hg19 CCDS13875.1 0.02 6.181543 AGCxTGG COVERED NOVEL SF3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320916.2 1 14.742441 KEEP 0 0 0 49 1509 AA 1 1 0 - 6 60 214 0 0 13.012604 163 60 6098 286 ENST00000215793.8 0.035503 1 SF3A1 10291 __UNKNOWN__ __UNKNOWN__ 22 30733111 30733111 __UNKNOWN__ Silent SNP C C A rs2229807 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30733111C>A ENST00000215793.8 - 13 2164 c.2010G>T c.(2008-2010)gtG>gtT p.V670V SF3A1_ENST00000439242.1_Silent_p.V605V NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 670 NA gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GTGGGGGATGCACAGGGGGCA 0.572 NA A||| 769 0.153554 0.1331 0.1556 5008 , , NA 17096 0.1448 NA 0.2535 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 A , 667,3739 763.8+/-413.2 56,555,1592 55 55 55 1815,2010 -2.6 0.9 22 dbSNP_98 55 2193,6407 711.1+/-405.8 284,1625,2391 no coding-synonymous,coding-synonymous SF3A1 NM_001005409.1,NM_005877.4 , 340,2180,3983 AA,AC,CC 25.5,15.1384,21.9899 , 605/729,670/794 30733111 2860,10146 2203 4300 6503 SO:0001819 synonymous_variant X85237 CCDS13875.1 22q12.2 2014-09-17 2002-08-29 ENSG00000099995 ENSG00000099995 10291 10765 protein-coding gene gene with protein product 605595 splicing factor 3a, subunit 1, 120kD NA 7489498 Standard NM_005877 NM_005877 NA Approved SF3a120, SAP114, PRPF21, Prp21 uc003ahl.3 Q15459 OTTHUMG00000151005 ENST00000215793.8:c.2010G>T chr22.hg19:g.30733111C>A NA E9PAW1 hg19 CCDS13875.1 0.02 2.120876 ATGxACA COVERED NOVEL SF3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320916.2 1 7.825214 KEEP 0 0 0 26 907 CC 0.999957 0.998652 0 - 4 60 151 0 0 10.204807 72 60 2690 115 ENST00000215793.8 0.052632 0.998696 SF3A1 10291 __UNKNOWN__ __UNKNOWN__ 22 30736559 30736559 __UNKNOWN__ Intron SNP G G A rs13057861 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30736559G>A ENST00000215793.8 - 8 1344 SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa NA NA gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684) poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TGTAACAGACGGGCTTGCAAT 0.542 NA G||| 770 0.153754 0.1331 0.1571 5008 , , NA 20889 0.1448 NA 0.2535 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X85237 CCDS13875.1 22q12.2 2014-09-17 2002-08-29 ENSG00000099995 ENSG00000099995 10291 10765 protein-coding gene gene with protein product 605595 splicing factor 3a, subunit 1, 120kD NA 7489498 Standard NM_005877 NM_005877 NA Approved SF3a120, SAP114, PRPF21, Prp21 uc003ahl.3 Q15459 OTTHUMG00000151005 ENST00000215793.8:c.1189+124C>T chr22.hg19:g.30736559G>A NA E9PAW1 hg19 CCDS13875.1 0.02 2.042012 GACxGGC COVERED NOVEL SF3A1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320916.2 0 5.410676 KEEP 0 0 0 18 573 GG 0.999859 0.999481 0 - 4 60 150 0 0 9.905827 81 60 2692 115 ENST00000215793.8 0.047059 0.999622 CCDC157 550631 __UNKNOWN__ __UNKNOWN__ 22 30761940 30761940 __UNKNOWN__ 5'UTR SNP G G C rs740222 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30761940G>C ENST00000405659.1 + 0 660 CCDC157_ENST00000399824.2_Intron|CCDC157_ENST00000338306.3_Intron Q569K6 CC157_HUMAN coiled-coil domain containing 157 NA NA central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CAGCAGCCACGTGGCTCTGGC 0.637 NA G||| 769 0.153554 0.1331 0.1556 5008 , , NA 19189 0.1468 NA 0.2545 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 G 192,1180 16,160,510 7 11 10 -8.4 0 22 dbSNP_86 10 757,2395 100,557,919 no intron CCDC157 NM_001017437.2 116,717,1429 CC,CG,GG 24.0165,13.9942,20.977 30761940 949,3575 686 1576 2262 SO:0001623 5_prime_UTR_variant BC018040 CCDS33632.2 22q12.2 2009-03-05 ENSG00000187860 ENSG00000187860 550631 33854 protein-coding gene gene with protein product NA Standard NM_001017437 NM_001017437 NA Approved uc011aku.2 Q569K6 OTTHUMG00000151007 ENST00000405659.1:c.-50G>C chr22.hg19:g.30761940G>C NA Q0VD76|Q9BYA4 hg19 CCDS33632.2 0.02 8.739452 CACxTGG COVERED NOVEL CCDC157-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320936.1 1 13.542766 KEEP 0 0 0 45 1536 GG 1 1 0 + 9 60 328 0 0 20.8172 209 60 7206 312 ENST00000405659.1 0.041284 1 CCDC157 550631 __UNKNOWN__ __UNKNOWN__ 22 30762140 30762140 __UNKNOWN__ Missense_Mutation SNP G G A rs740223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30762140G>A ENST00000405659.1 + 3 860 c.151G>A c.(151-153)Gac>Aac p.D51N CCDC157_ENST00000399824.2_Missense_Mutation_p.D51N|CCDC157_ENST00000338306.3_Missense_Mutation_p.D51N Q569K6 CC157_HUMAN coiled-coil domain containing 157 51 NA D -> N (in dbSNP:rs740223). central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CTGTGACCTCGACATGGTGGC 0.647 NA G||| 797 0.159145 0.1415 0.1571 5008 , , NA 20656 0.1468 NA 0.2694 False NA ,,, NA NA NA 2504 0.0838 NA NA NA NA 0 G ASN/ASP 667,3739 282.5+/-276.6 55,557,1591 154 135 142 151 5.2 1 22 dbSNP_86 142 2204,6396 375.9+/-337.9 287,1630,2383 no missense CCDC157 NM_001017437.2 23 342,2187,3974 AA,AG,GG 25.6279,15.1384,22.0744 probably-damaging 51/753 30762140 2871,10135 2203 4300 6503 SO:0001583 missense BC018040 CCDS33632.2 22q12.2 2009-03-05 ENSG00000187860 ENSG00000187860 550631 33854 protein-coding gene gene with protein product NA Standard NM_001017437 NM_001017437 NA Approved uc011aku.2 Q569K6 OTTHUMG00000151007 ENST00000405659.1:c.151G>A chr22.hg19:g.30762140G>A ENSP00000385357:p.Asp51Asn NA Q0VD76|Q9BYA4 hg19 CCDS33632.2 0.02 11.295607 CTCxACA COVERED 381 0.17445054945054944 70 0.14227642276422764 57 0.1574585635359116 71 0.12412587412587413 183 0.24142480211081793 G 35 5.588928 0.96590 0.151384 0.256279 ENSG00000187860 ENST00000399824;ENST00000405659;ENST00000338306;ENST00000445005;ENST00000430839 T;T;T;T;T 0.54479 0.57;1.46;1.46;1.09;1.09 5.25 5.25 0.73442 . . . . . T 0.00039 0.0001 M 0.61703 1.905 0.09310 P 1.0 D 0.89917 1.0 D 0.97110 1.0 T 0.00076 -1.2119 8 0.41790 T 0.15 -20.5084 17.3819 0.87407 0.0:0.0:1.0:0.0 rs740223;rs13055115;rs17736500;rs52830809;rs740223 51 Q569K6 CC157_HUMAN N 51 ENSP00000382720:D51N;ENSP00000385357:D51N;ENSP00000343087:D51N;ENSP00000387491:D51N;ENSP00000401837:D51N ENSP00000343087:D51N D + 1 0 CCDC157 29092140 1.000000 0.71417 1.000000 0.80357 0.968000 0.65278 9.060000 0.93907 2.613000 0.88420 0.455000 0.32223 GAC NOVEL CCDC157-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320936.1 1 22.271363 KEEP 0 0 0 74 2560 GG 1 1 0 + 13 60 485 0 0 31.687106 276 60 9640 440 ENST00000405659.1 0.044983 1 CCDC157 550631 __UNKNOWN__ __UNKNOWN__ 22 30765502 30765502 __UNKNOWN__ Silent SNP G G A rs5749080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30765502G>A ENST00000405659.1 + 4 1039 c.330G>A c.(328-330)gcG>gcA p.A110A CCDC157_ENST00000338306.3_Silent_p.A110A Q569K6 CC157_HUMAN coiled-coil domain containing 157 110 NA central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CACAGGCTGCGGGGCCCTGCA 0.652 NA G||| 768 0.153355 0.1324 0.1571 5008 , , NA 17743 0.1458 NA 0.2545 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 G 680,3726 280.2+/-275.2 69,542,1592 41 40 41 330 -10.6 0 22 dbSNP_114 41 2211,6389 372.6+/-336.7 289,1633,2378 no coding-synonymous CCDC157 NM_001017437.2 358,2175,3970 AA,AG,GG 25.7093,15.4335,22.2282 110/753 30765502 2891,10115 2203 4300 6503 SO:0001819 synonymous_variant BC018040 CCDS33632.2 22q12.2 2009-03-05 ENSG00000187860 ENSG00000187860 550631 33854 protein-coding gene gene with protein product NA Standard NM_001017437 NM_001017437 NA Approved uc011aku.2 Q569K6 OTTHUMG00000151007 ENST00000405659.1:c.330G>A chr22.hg19:g.30765502G>A NA Q0VD76|Q9BYA4 hg19 CCDS33632.2 0.02 6.487503 TGCxGGG COVERED NOVEL CCDC157-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320936.1 1 14.711926 KEEP 0 0 0 49 1629 GG 1 1 0 + 6 60 225 0 0 13.786067 185 60 6640 297 ENST00000405659.1 0.031414 1 CCDC157 550631 __UNKNOWN__ __UNKNOWN__ 22 30770626 30770626 __UNKNOWN__ Intron SNP G G C rs5753105 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30770626G>C ENST00000405659.1 + 9 2381 CCDC157_ENST00000338306.3_Intron Q569K6 CC157_HUMAN coiled-coil domain containing 157 NA NA central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 GCAGGAAGATGTGCAGTTAGC 0.542 NA C||| 768 0.153355 0.1324 0.1571 5008 , , NA 21373 0.1458 NA 0.2545 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC018040 CCDS33632.2 22q12.2 2009-03-05 ENSG00000187860 ENSG00000187860 550631 33854 protein-coding gene gene with protein product NA Standard NM_001017437 NM_001017437 NA Approved uc011aku.2 Q569K6 OTTHUMG00000151007 ENST00000405659.1:c.1672+546G>C chr22.hg19:g.30770626G>C NA Q0VD76|Q9BYA4 hg19 CCDS33632.2 0.02 14.048665 GATxTGC COVERED NOVEL CCDC157-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320936.1 1 16.855122 KEEP 0 0 0 56 2002 GG 1 1 0 + 12 60 453 0 0 28.696858 315 60 11720 433 ENST00000405659.1 0.036697 1 CCDC157 550631 __UNKNOWN__ __UNKNOWN__ 22 30771458 30771458 __UNKNOWN__ Intron SNP T T C rs1002189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30771458T>C ENST00000405659.1 + 10 2381 CCDC157_ENST00000338306.3_Intron|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 NA NA central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 TCCTGTCCCATTGGGCACAGG 0.567 NA T||| 774 0.154553 0.1362 0.1585 5008 , , NA 18357 0.1458 NA 0.2545 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 T 681,3725 286.6+/-278.8 56,569,1578 82 67 72 -8.6 0 22 dbSNP_86 72 2211,6389 376.4+/-338.1 288,1635,2377 no intron CCDC157 NM_001017437.2 344,2204,3955 CC,CT,TT 25.7093,15.4562,22.2359 30771458 2892,10114 2203 4300 6503 SO:0001627 intron_variant BC018040 CCDS33632.2 22q12.2 2009-03-05 ENSG00000187860 ENSG00000187860 550631 33854 protein-coding gene gene with protein product NA Standard NM_001017437 NM_001017437 NA Approved uc011aku.2 Q569K6 OTTHUMG00000151007 ENST00000405659.1:c.1673-10T>C chr22.hg19:g.30771458T>C NA Q0VD76|Q9BYA4 hg19 CCDS33632.2 0.02 14.47578 CCAxTGG COVERED NOVEL CCDC157-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000320936.1 0 21.359166 KEEP 0 0 0 71 2160 TT 1 1 0 + 10 60 361 1 0 20.792678 371 60 13634 555 ENST00000405659.1 0.026247 1 RNF215 200312 __UNKNOWN__ __UNKNOWN__ 22 30776095 30776095 __UNKNOWN__ Missense_Mutation SNP C C T rs5749088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30776095C>T ENST00000382363.3 - 7 1038 c.964G>A c.(964-966)Gct>Act p.A322T NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 322 NA A -> T (in dbSNP:rs5749088). integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 CAGGTCTCAGCACCCGGATCT 0.637 NA C||| 659 0.131589 0.0522 0.1556 5008 , , NA 16027 0.1438 NA 0.2545 False NA ,,, NA NA NA 2504 0.0828 NA NA NA NA 0 C THR/ALA 370,4036 185.3+/-212.5 17,336,1850 68 76 73 964 -6.2 0 22 dbSNP_114 73 2198,6402 368.9+/-335.3 286,1626,2388 yes missense RNF215 NM_001017981.1 58 303,1962,4238 TT,TC,CC 25.5581,8.3976,19.7447 benign 322/378 30776095 2568,10438 2203 4300 6503 SO:0001583 missense CCDS33633.1 22q12.2 2013-01-09 ENSG00000099999 ENSG00000099999 200312 RING-type (C3HC4) zinc fingers 33434 protein-coding gene gene with protein product NA Standard NM_001017981 NM_001017981 NA Approved uc003ahp.3 Q9Y6U7 OTTHUMG00000151016 ENST00000382363.3:c.964G>A chr22.hg19:g.30776095C>T ENSP00000371800:p.Ala322Thr NA A6NEL1 hg19 CCDS33633.1 0.02 9.655101 CAGxACC COVERED 341|341 0.15613553113553114|0.15613553113553114 31|31 0.06300813008130081|0.06300813008130081 57|57 0.1574585635359116|0.1574585635359116 70|70 0.12237762237762238|0.12237762237762238 183|183 0.24142480211081793|0.24142480211081793 C|C 4.152|4.152 0.026624|0.026624 0.08054|0.08054 0.083976|0.083976 0.255581|0.255581 ENSG00000099999|ENSG00000099999 ENST00000382363|ENST00000215798 T|. 0.19669|. 2.13|. 3.71|3.71 -6.25|-6.25 0.02039|0.02039 .|. 0.720360|. 0.12740|. N|. 0.443090|. T|T 0.00012|0.00012 0.0000|0.0000 N|N 0.08118|0.08118 0|0 0.80722|0.80722 P|P 0.0|0.0 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.40175|0.40175 -0.9577|-0.9577 9|4 0.17369|. T|. 0.5|. -9.7763|-9.7763 2.1934|2.1934 0.03905|0.03905 0.1053:0.204:0.3135:0.3772|0.1053:0.204:0.3135:0.3772 rs5749088;rs17736865;rs5749088|rs5749088;rs17736865;rs5749088 322|. Q9Y6U7|. RN215_HUMAN|. T|Y 322|259 ENSP00000371800:A322T|. ENSP00000371800:A322T|. A|C -|- 1|2 0|0 RNF215|RNF215 29106095|29106095 0.000000|0.000000 0.05858|0.05858 0.006000|0.006000 0.13384|0.13384 0.002000|0.002000 0.02628|0.02628 0.008000|0.008000 0.13197|0.13197 -1.111000|-1.111000 0.02988|0.02988 -0.258000|-0.258000 0.10820|0.10820 GCT|TGC NOVEL RNF215-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320960.1 2 24.311804 KEEP 0 1 26 90 3146 CC 1 1 0 - 14 60 459 0 0 28.170858 281 70 10319 491 ENST00000382363.3 0.047458 1 SEC14L2 23541 __UNKNOWN__ __UNKNOWN__ 22 30794719 30794719 __UNKNOWN__ Intron SNP C C T rs11089447 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30794719C>T ENST00000312932.9 + 2 314 SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000405717.3_Intron|SEC14L2_ENST00000403484.1_Intron|SEC14L2_ENST00000459728.1_Intron NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) NA NA positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) CCTCTTTCTTCCCTCTGCTCC 0.552 NA C||| 1396 0.278754 0.146 0.2709 5008 , , NA 20094 0.3542 NA 0.2038 False NA ,,, NA NA NA 2504 0.4632 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL096881 CCDS13876.1, CCDS46685.1, CCDS56228.1 22q12.2 2010-08-19 2001-11-28 ENSG00000100003 ENSG00000100003 23541 10699 protein-coding gene gene with protein product supernatant protein factor 607558 SEC14 (S. cerevisiae)-like 2 C22orf6 NA 10591208 Standard NM_012429 NM_033382 NA Approved TAP, SPF, KIAA1186, KIAA1658 uc003ahr.3 O76054 OTTHUMG00000151024 ENST00000312932.9:c.55-913C>T chr22.hg19:g.30794719C>T NA B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4 hg19 CCDS13876.1 0.02 8.259118 CTTxCCT COVERED 561 0.25686813186813184 77 0.1565040650406504 110 0.30386740331491713 211 0.3688811188811189 163 0.21503957783641162 C 7.733 0.699700 0.15106 . . ENSG00000100003 ENST00000415072 . . . 4.11 1.92 0.25849 . . . . . T 0.00012 0.0000 . . . 0.58432 P 1.0000000000287557E-6 . . . . . . T 0.42548 -0.9445 4 0.31617 T 0.26 . 6.9123 0.24342 0.0:0.7873:0.0:0.2127 rs11089447;rs11089447 . . . F 15 . ENSP00000399596:S15F S + 2 0 SEC14L2 29124719 0.000000 0.05858 0.003000 0.11579 0.115000 0.19883 -0.435000 0.06931 0.479000 0.27511 0.655000 0.94253 TCC NOVEL SEC14L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321018.4 1 16.989461 KEEP 0 1 30 67 2370 CC 1 1 0 + 8 60 296 0 0 18.062007 241 60 8870 406 ENST00000312932.9 0.032129 1 MTFP1 51537 __UNKNOWN__ __UNKNOWN__ 22 30823113 30823113 __UNKNOWN__ Intron SNP T T G rs2072160 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:30823113T>G ENST00000266263.5 + 3 545 RP4-539M6.19_ENST00000439838.1_Intron|MTFP1_ENST00000355143.4_Intron|MTFP1_ENST00000407550.3_Intron NM_016498.4 NP_057582.2 Q9UDX5 MTFP1_HUMAN mitochondrial fission process 1 NA NA apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) endometrium(1)|large_intestine(1)|lung(2) 4 TCGCAGGATTTTCTGCCTCTG 0.642 NA T||| 1353 0.270168 0.1437 0.2738 5008 , , NA 19264 0.4167 NA 0.1869 False NA ,,, NA NA NA 2504 0.3732 NA NA NA NA 0 T , 713,3693 290.4+/-280.9 53,607,1543 43 46 45 , 0.9 0 22 dbSNP_96 45 1636,6964 287.1+/-298.1 173,1290,2837 no intron,intron MTFP1 NM_001003704.2,NM_016498.4 , 226,1897,4380 GG,GT,TT 19.0233,16.1825,18.0609 , , 30823113 2349,10657 2203 4300 6503 SO:0001627 intron_variant AF151076 CCDS33634.1, CCDS33635.1 22q 2010-09-02 ENSG00000242114 ENSG00000242114 51537 26945 protein-coding gene gene with protein product 610235 NA 15155745, 15985469 Standard NM_016498 NM_016498 NA Approved MTP18, HSPC242 Q9UDX5 OTTHUMG00000151057 ENST00000266263.5:c.196-45T>G chr22.hg19:g.30823113T>G NA A6NFQ5|Q9H3K1|Q9P0N6 hg19 CCDS33635.1 0.02 1.76373 ATTxTCT COVERED NOVEL MTFP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321126.3 3 10.207483 KEEP 0 0 0 34 970 TT 0.999998 0.999905 0 + 4 60 146 0 0 9.328734 90 60 3112 139 ENST00000266263.5 0.042553 0.999907 OSBP2 23762 __UNKNOWN__ __UNKNOWN__ 22 31302233 31302233 __UNKNOWN__ Silent SNP T T C rs3804085 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:31302233T>C ENST00000332585.6 + 14 2762 c.2658T>C c.(2656-2658)gaT>gaC p.D886D OSBP2_ENST00000407373.1_Silent_p.D713D|OSBP2_ENST00000446658.2_Silent_p.D885D|OSBP2_ENST00000401475.1_Silent_p.D519D|OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000535268.1_Silent_p.D430D|OSBP2_ENST00000437268.2_Silent_p.D629D|OSBP2_ENST00000403222.3_Silent_p.D720D NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3 NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 886 NA lipid transport (GO:0006869) membrane (GO:0016020) cholesterol binding (GO:0015485) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGAGGCTGGATCCGCTGACCG 0.627 NA C||| 2391 0.477436 0.6059 0.3573 5008 , , NA 13354 0.6895 NA 0.3191 False NA ,,, NA NA NA 2504 0.3333 NA NA NA NA 0 C 2318,1974 629,1060,457 70 89 83 2658 0.3 1 22 dbSNP_107 83 2752,5748 468,1816,1966 no coding-synonymous OSBP2 NM_030758.3 1097,2876,2423 CC,CT,TT 32.3765,45.9925,39.6341 886/917 31302233 5070,7722 2146 4250 6396 SO:0001819 synonymous_variant CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1 22q12.2 2013-01-10 ENSG00000184792 ENSG00000184792 23762 Oxysterol binding proteins, Pleckstrin homology (PH) domain containing 8504 protein-coding gene gene with protein product 606729 OSBPL1 NA 10591208, 11278871, 11802775 Standard NM_030758 NM_001282738 NA Approved KIAA1664, ORP-4, ORP4 uc003aiy.1 Q969R2 OTTHUMG00000151153 ENST00000332585.6:c.2658T>C chr22.hg19:g.31302233T>C NA B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0 hg19 CCDS43002.1 0.02 11.185832 GGAxCCG COVERED 1027 0.47023809523809523 291 0.5914634146341463 143 0.39502762430939226 358 0.6258741258741258 235 0.3100263852242744 C 8.146 0.786255 0.16189 0.540075 0.323765 ENSG00000184792 ENST00000431368 . . . 4.77 0.302 0.15786 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.9999999999999999 . . . . . . T 0.46247 -0.9205 3 . . . -6.3421 10.1732 0.42922 0.0:0.5593:0.0:0.4407 rs3804085;rs3804085 . . . T 558 . . I + 2 0 OSBP2 29632233 0.054000 0.20591 0.998000 0.56505 0.900000 0.52787 0.105000 0.15333 0.007000 0.14760 -0.227000 0.12334 ATC NOVEL OSBP2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000321547.2 2 10.229377 KEEP 0 0 0 34 1032 TT 0.999998 0.999998 0 + 8 60 301 0 0 18.465894 248 60 8717 356 ENST00000332585.6 0.03125 1 MORC2 22880 __UNKNOWN__ __UNKNOWN__ 22 31354653 31354653 __UNKNOWN__ Silent SNP G G A rs737924 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:31354653G>A ENST00000397641.3 - 2 504 c.96C>T c.(94-96)gcC>gcT p.A32A MORC2_ENST00000215862.4_5'UTR Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 32 NA cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 GTTCAGCAAGGGCACCAAACA 0.368 NA A||| 2378 0.47484 0.6006 0.3559 5008 , , NA 18591 0.6925 NA 0.3191 False NA ,,, NA NA NA 2504 0.3252 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001819 synonymous_variant AB020659 CCDS33636.1 22q12.2 2005-06-15 2005-06-15 2005-06-15 ENSG00000133422 ENSG00000133422 22880 23573 protein-coding gene gene with protein product zinc finger, CW-type with coiled-coil domain 1, zinc finger, CW type with coiled-coil domain 1 ZCWCC1 NA 14607086 Standard NM_014941 XM_005261391 NA Approved ZCW3, KIAA0852, AC004542.C22.1 uc003aje.1 Q9Y6X9 OTTHUMG00000151193 ENST00000397641.3:c.96C>T chr22.hg19:g.31354653G>A NA B2RNB1|Q9UF28|Q9Y6V2 hg19 0.02 4.862545 AAGxGCA COVERED NOVEL MORC2-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000321710.2 3 6.290582 KEEP 0 2 63 43 1527 GG 1 0.999981 0 - 7 60 268 0 0 19.003088 97 60 3519 198 ENST00000397641.3 0.067308 0.999981 INPP5J 27124 __UNKNOWN__ __UNKNOWN__ 22 31521404 31521404 __UNKNOWN__ Intron SNP G G A rs2240432 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:31521404G>A ENST00000404390.3 + 2 188 INPP5J_ENST00000405300.1_Intron|INPP5J_ENST00000412277.2_Missense_Mutation_p.A160T|INPP5J_ENST00000400294.2_Intron|INPP5J_ENST00000331075.5_Missense_Mutation_p.A227T NM_001002837.1 NP_001002837.1 Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J NA NA inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726) inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 12 GGCATCAGGCGCAGCCTCTGT 0.632 NA A||| 1895 0.378395 0.2277 0.4697 5008 , , NA 16530 0.5387 NA 0.333 False NA ,,, NA NA NA 2504 0.3988 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U45975 CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1 22q12.2 2008-09-09 2008-09-09 2008-09-09 ENSG00000185133 ENSG00000185133 27124 8956 protein-coding gene gene with protein product 606481 phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A PIB5PA NA 10591208 Standard NM_001002837 NM_001284287 NA Approved INPP5 uc003aju.4 Q15735 OTTHUMG00000151206 ENST00000404390.3:c.167+512G>A chr22.hg19:g.31521404G>A NA B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9 hg19 CCDS46687.1 0.02 10.315483 GGCxCAG COVERED 839 0.3841575091575092 110 0.22357723577235772 139 0.3839779005524862 322 0.5629370629370629 268 0.35356200527704484 A 6.511 0.462520 0.12342 . . ENSG00000185133 ENST00000331075;ENST00000412277 D;D 0.97404 -4.37;-4.36 4.37 2.25 0.28309 . 0.970438 0.08448 N 0.944325 T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.09022 0.002 B 0.04013 0.001 T 0.26608 -1.0098 8 0.72032 D 0.01 . 3.5973 0.08010 0.1725:0.5689:0.1647:0.0939 rs2240432;rs17220138;rs57414940;rs2240432 227 Q15735 PI5PA_HUMAN T 227;160 ENSP00000333262:A227T;ENSP00000392924:A160T ENSP00000333262:A227T A + 1 0 INPP5J 29851404 0.000000 0.05858 0.005000 0.12908 0.059000 0.15707 -0.682000 0.05185 0.116000 0.18110 -2.303000 0.00259 GCA NOVEL INPP5J-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000321786.1 3 13.239816 KEEP 0 2 59 65 2177 GG 1 1 0 + 8 60 295 0 0 17.464187 279 60 9585 433 ENST00000404390.3 0.027875 1 PIK3IP1 113791 __UNKNOWN__ __UNKNOWN__ 22 31677744 31677744 __UNKNOWN__ 3'UTR SNP A A G rs4615 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:31677744A>G ENST00000215912.5 - 0 2301 PIK3IP1_ENST00000441972.1_3'UTR NM_052880.4 NP_443112.2 Q96FE7 P3IP1_HUMAN phosphoinositide-3-kinase interacting protein 1 NA NA negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313) large_intestine(2)|lung(1)|ovary(1) 4 CCAAGAGACCACCTGAGGTCT 0.443 NA G||| 843 0.168331 0.0893 0.0461 5008 , , NA 18228 0.3919 NA 0.0626 False NA ,,, NA NA NA 2504 0.2403 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011049 CCDS13893.1, CCDS46690.1 22q12.2 2007-04-13 ENSG00000100100 ENSG00000100100 113791 24942 protein-coding gene gene with protein product NA 12477932 Standard NM_052880 NM_052880 NA Approved HGFL, MGC17330 uc003akm.3 Q96FE7 OTTHUMG00000151256 ENST00000215912.5:c.*1326T>C chr22.hg19:g.31677744A>G NA B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9 hg19 CCDS13893.1 0.02 11.550828 ACCxCCT COVERED NOVEL PIK3IP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321939.1 2 23.770489 KEEP 0 0 0 79 2479 AA 1 1 0 - 9 60 310 0 0 18.27944 286 70 10176 494 ENST00000215912.5 0.030508 1 PIK3IP1 113791 __UNKNOWN__ __UNKNOWN__ 22 31678958 31678958 __UNKNOWN__ 3'UTR SNP C C G rs4618154 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:31678958C>G ENST00000215912.5 - 0 1087 PIK3IP1_ENST00000441972.1_3'UTR|PIK3IP1_ENST00000487265.2_3'UTR NM_052880.4 NP_443112.2 Q96FE7 P3IP1_HUMAN phosphoinositide-3-kinase interacting protein 1 NA NA negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313) large_intestine(2)|lung(1)|ovary(1) 4 GCCAAAAAAGCGGGGGAGTGG 0.562 NA G||| 2628 0.52476 0.6831 0.4078 5008 , , NA 19799 0.8056 NA 0.2117 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC011049 CCDS13893.1, CCDS46690.1 22q12.2 2007-04-13 ENSG00000100100 ENSG00000100100 113791 24942 protein-coding gene gene with protein product NA 12477932 Standard NM_052880 NM_052880 NA Approved HGFL, MGC17330 uc003akm.3 Q96FE7 OTTHUMG00000151256 ENST00000215912.5:c.*112G>C chr22.hg19:g.31678958C>G NA B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9 hg19 CCDS13893.1 0.02 7.4654 AAGxGGG COVERED NOVEL PIK3IP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321939.1 3 12.339215 KEEP 0 0 0 41 1412 CC 1 1 0 - 7 60 256 0 0 16.116603 175 60 6086 271 ENST00000215912.5 0.038462 1 DEPDC5 9681 __UNKNOWN__ __UNKNOWN__ 22 32174198 32174198 __UNKNOWN__ Intron SNP A A G rs7286557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32174198A>G ENST00000382112.3 + 7 553 DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000400242.3_Intron|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.2_Intron NM_001136029.2|NM_001242896.1 NP_001129501.1|NP_001229825.1 O75140 DEPD5_HUMAN DEP domain containing 5 NA NA intracellular signal transduction (GO:0035556) cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TCTCCATACTATTATGGCTAA 0.418 NA A||| 262 0.0523163 0.0756 0.0231 5008 , , NA 19627 0.0208 NA 0.0408 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 A ,,,, 171,3497 4,163,1667 90 85 86 ,,,, -4.2 0 22 dbSNP_116 86 244,7952 4,236,3858 no intron,intron,intron,intron,intron DEPDC5 NM_001007188.2,NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3 ,,,, 8,399,5525 GG,GA,AA 2.9771,4.6619,3.498 ,,,, ,,,, 32174198 415,11449 1834 4098 5932 SO:0001627 intron_variant AB014545 CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1 22q12.3 2013-04-29 ENSG00000100150 ENSG00000100150 9681 18423 protein-coding gene gene with protein product 614191 NA 23542697, 23542701 Standard NM_014662 NM_001242896 NA Approved KIAA0645, DEP.5 uc011alu.2 O75140 OTTHUMG00000030926 ENST00000382112.3:c.483+44A>G chr22.hg19:g.32174198A>G NA A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13 hg19 CCDS46692.1 0.02 9.852664 ACTxTTA COVERED NOVEL DEPDC5-006 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129087.1 2 8.725027 KEEP 0 0 0 29 876 AA 0.999997 0.999997 0 + 13 60 496 0 0 33.881357 226 60 8232 292 ENST00000382112.3 0.054393 1 DEPDC5 9681 __UNKNOWN__ __UNKNOWN__ 22 32217539 32217539 __UNKNOWN__ Missense_Mutation SNP C C T rs16989528 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32217539C>T ENST00000382112.3 + 22 1992 c.1922C>T c.(1921-1923)gCg>gTg p.A641V DEPDC5_ENST00000400249.2_Missense_Mutation_p.A641V|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A641V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A641V|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A641V|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A641V NM_001136029.2|NM_001242896.1 NP_001129501.1|NP_001229825.1 O75140 DEPD5_HUMAN DEP domain containing 5 641 NA A -> V (in dbSNP:rs16989528). intracellular signal transduction (GO:0035556) cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471) GTPase activator activity (GO:0005096) breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CAGAATATGGCGGAGCTACAA 0.547 NA C||| 164 0.0327476 0.003 0.0173 5008 , , NA 19700 0.0228 NA 0.0408 False NA ,,, NA NA NA 2504 0.0859 NA NA NA NA 0 C VAL/ALA,VAL/ALA,,VAL/ALA 22,4046 0,22,2012 139 146 144 1922,1922,,1922 0.4 1 22 dbSNP_123 144 247,8113 3,241,3936 yes missense,missense,intron,missense DEPDC5 NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3 64,64,,64 3,263,5948 TT,TC,CC 2.9545,0.5408,2.1645 benign,benign,,benign 641/1595,641/1604,,641/1573 32217539 269,12159 2034 4180 6214 SO:0001583 missense AB014545 CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1 22q12.3 2013-04-29 ENSG00000100150 ENSG00000100150 9681 18423 protein-coding gene gene with protein product 614191 NA 23542697, 23542701 Standard NM_014662 NM_001242896 NA Approved KIAA0645, DEP.5 uc011alu.2 O75140 OTTHUMG00000030926 ENST00000382112.3:c.1922C>T chr22.hg19:g.32217539C>T ENSP00000371546:p.Ala641Val NA A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13 hg19 CCDS46692.1 0.02 14.805872 TGGxGGA COVERED 67 0.030677655677655676 5 0.01016260162601626 10 0.027624309392265192 18 0.03146853146853147 34 0.044854881266490766 C 15.45 2.837225 0.50951 0.005408 0.029545 ENSG00000100150 ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248 T;T;T;T;T;T 0.22945 1.94;1.95;1.93;1.95;1.93;1.95 6.01 0.383 0.16239 . 0.216429 0.47455 N 0.000238 T 0.03739 0.0106 L 0.35723 1.085 0.80722 D 1 B;B;B;B 0.21821 0.046;0.061;0.009;0.036 B;B;B;B 0.16722 0.01;0.016;0.003;0.007 T 0.11941 -1.0567 10 0.23891 T 0.37 . 10.0513 0.42216 0.0:0.6722:0.0:0.3278 rs16989528;rs16989528 641;641;641;641 B9EGN9;O75140-4;A8MPX9;O75140 .;.;.;DEPD5_HUMAN V 641 ENSP00000266091:A641V;ENSP00000383108:A641V;ENSP00000383105:A641V;ENSP00000371546:A641V;ENSP00000371545:A641V;ENSP00000383107:A641V ENSP00000266091:A641V A + 2 0 DEPDC5 30547539 0.927000 0.31430 0.983000 0.44433 0.976000 0.68499 1.050000 0.30404 0.158000 0.19367 0.655000 0.94253 GCG NOVEL DEPDC5-006 NOVEL not_organism_supported|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000129087.1 2 19.395799 KEEP 0 1 33 76 2620 CC 1 1 0 + 16 60 571 0 0 35.806637 372 60 13183 581 ENST00000382112.3 0.041237 1 RFPL3 10738 __UNKNOWN__ __UNKNOWN__ 22 32754036 32754036 __UNKNOWN__ Intron SNP G G A rs11089557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32754036G>A ENST00000397468.1 + 2 13 RFPL3_ENST00000249007.4_De_novo_Start_OutOfFrame NM_006604.2 NP_006595.1 O75679 RFPL3_HUMAN ret finger protein-like 3 NA NA zinc ion binding (GO:0008270) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GAGTGACAAAGCTGGAACACA 0.453 NA g||| 723 0.144369 0.0303 0.0908 5008 , , NA 20764 0.4544 NA 0.0408 False NA ,,, NA NA NA 2504 0.1237 NA NA NA NA 0 G , 162,4212 7,148,2032 95 94 94 , -0.3 0 22 dbSNP_120 94 434,8150 11,412,3869 no utr-5,intron RFPL3 NM_001098535.1,NM_006604.2 , 18,560,5901 AA,AG,GG 5.0559,3.7037,4.5995 , , 32754036 596,12362 2187 4292 6479 SO:0001627 intron_variant AJ010232 CCDS13904.1, CCDS43011.1 22q12 2006-04-25 ENSG00000128276 ENSG00000128276 10738 9980 protein-coding gene gene with protein product 605970 NA 10508838 Standard NM_006604 NM_006604 NA Approved uc010gwn.3 O75679 OTTHUMG00000030290 ENST00000397468.1:c.-5-105G>A chr22.hg19:g.32754036G>A NA A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4 hg19 CCDS13904.1 0.02 26.171789 AAAxCTG COVERED NOVEL RFPL3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259052.1 2 30.955918 KEEP 0 0 0 103 3730 GG 1 1 0 + 20 60 684 0 0 38.988872 650 60 24723 938 ENST00000397468.1 0.029851 1 RFPL3 10738 __UNKNOWN__ __UNKNOWN__ 22 32754103 32754103 __UNKNOWN__ Intron SNP A A C rs58637580 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32754103A>C ENST00000397468.1 + 2 13 RFPL3_ENST00000249007.4_Missense_Mutation_p.Q15H NM_006604.2 NP_006595.1 O75679 RFPL3_HUMAN ret finger protein-like 3 NA NA zinc ion binding (GO:0008270) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TTTCACCTCAAGGAAATTTTC 0.463 NA N||| 724 0.144569 0.0265 0.0893 5008 , , NA 20055 0.4583 NA 0.0408 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 C HIS/GLN, 138,4268 779.0+/-414.3 8,122,2073 114 113 113 45, -1.3 0 22 dbSNP_129 113 418,8180 790.4+/-407.6 12,394,3893 no missense,intron RFPL3 NM_001098535.1,NM_006604.2 24, 20,516,5966 CC,CA,AA 4.8616,3.1321,4.2756 , 15/318, 32754103 556,12448 2203 4299 6502 SO:0001627 intron_variant AJ010232 CCDS13904.1, CCDS43011.1 22q12 2006-04-25 ENSG00000128276 ENSG00000128276 10738 9980 protein-coding gene gene with protein product 605970 NA 10508838 Standard NM_006604 NM_006604 NA Approved uc010gwn.3 O75679 OTTHUMG00000030290 ENST00000397468.1:c.-5-38A>C chr22.hg19:g.32754103A>C NA A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4 hg19 CCDS13904.1 0.02 30.77998 TCAxGGA COVERED 296 0.13553113553113552 7 0.014227642276422764 32 0.08839779005524862 227 0.3968531468531469 30 0.0395778364116095 C 0.203 -1.042871 0.01997 0.031321 0.048616 ENSG00000128276 ENST00000249007 T 0.52526 0.66 0.784 -1.26 0.09376 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.35798 -0.9774 8 0.02654 T 1 . 1.4237 0.02318 0.3217:0.2569:0.0:0.4214 rs58637580;rs61729173 15 O75679 RFPL3_HUMAN H 15 ENSP00000249007:Q15H ENSP00000249007:Q15H Q + 3 2 RFPL3 31084103 0.002000 0.14202 0.002000 0.10522 0.029000 0.11900 -2.692000 0.00830 -1.119000 0.02958 -2.543000 0.00179 CAA NOVEL RFPL3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259052.1 6 32.753458 KEEP 1 0 0 109 3459 AA 1 1 0 + 22 60 752 0 0 42.846105 747 60 27707 1055 ENST00000397468.1 0.028609 1 RFPL3 10738 __UNKNOWN__ __UNKNOWN__ 22 32754500 32754500 __UNKNOWN__ Intron SNP C C G rs5754006 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32754500C>G ENST00000397468.1 + 2 304 RFPL3_ENST00000382088.3_Intron|RFPL3_ENST00000249007.4_Intron NM_006604.2 NP_006595.1 O75679 RFPL3_HUMAN ret finger protein-like 3 NA NA zinc ion binding (GO:0008270) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GCAGTTGGCCCCTCATTCCAC 0.488 NA c||| 724 0.144569 0.0265 0.0893 5008 , , NA 20415 0.4583 NA 0.0408 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ010232 CCDS13904.1, CCDS43011.1 22q12 2006-04-25 ENSG00000128276 ENSG00000128276 10738 9980 protein-coding gene gene with protein product 605970 NA 10508838 Standard NM_006604 NM_006604 NA Approved uc010gwn.3 O75679 OTTHUMG00000030290 ENST00000397468.1:c.286+69C>G chr22.hg19:g.32754500C>G NA A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4 hg19 CCDS13904.1 0.02 7.522649 GCCxCTC COVERED NOVEL RFPL3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259052.1 2 6.895758 KEEP 0 0 0 23 776 CC 0.999892 0.999892 0 + 8 60 307 0 0 20.893212 145 60 5155 207 ENST00000397468.1 0.052288 1 RFPL3 10738 __UNKNOWN__ __UNKNOWN__ 22 32756407 32756407 __UNKNOWN__ Missense_Mutation SNP A A G rs5749408 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32756407A>G ENST00000397468.1 + 3 473 c.455A>G c.(454-456)tAc>tGc p.Y152C RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.Y152C|RFPL3_ENST00000249007.4_Missense_Mutation_p.Y181C NM_006604.2 NP_006595.1 O75679 RFPL3_HUMAN ret finger protein-like 3 181 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA zinc ion binding (GO:0008270) p.Y152C(1)|p.Y181C(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GGCCGCCACTACTGGGAGGTG 0.562 NA a||| 851 0.169928 0.1059 0.1124 5008 , , NA 18743 0.4583 NA 0.0467 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 2 Substitution - Missense(2) stomach(2) A CYS/TYR,CYS/TYR 499,3907 228.1+/-243.1 40,419,1744 85 86 85 542,455 0.7 0.2 22 dbSNP_114 85 479,8117 140.3+/-196.8 11,457,3830 no missense,missense RFPL3 NM_001098535.1,NM_006604.2 194,194 51,876,5574 GG,GA,AA 5.5724,11.3255,7.5219 benign,benign 181/318,152/289 32756407 978,12024 2203 4298 6501 SO:0001583 missense AJ010232 CCDS13904.1, CCDS43011.1 22q12 2006-04-25 ENSG00000128276 ENSG00000128276 10738 9980 protein-coding gene gene with protein product 605970 NA 10508838 Standard NM_006604 NM_006604 NA Approved uc010gwn.3 O75679 OTTHUMG00000030290 ENST00000397468.1:c.455A>G chr22.hg19:g.32756407A>G ENSP00000380609:p.Tyr152Cys NA A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4 hg19 CCDS13904.1 0.02 23.102734 ACTxCTG COVERED 386 0.17673992673992675 52 0.10569105691056911 46 0.1270718232044199 254 0.44405594405594406 34 0.044854881266490766 A 8.527 0.870091 0.17322 0.113255 0.055724 ENSG00000128276 ENST00000397468;ENST00000249007;ENST00000382088 T;T;T 0.74947 -0.89;-0.89;-0.89 0.704 0.704 0.18121 Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1); . . . . T 0.00012 0.0000 M 0.81497 2.545 0.09310 P 0.999999999404185 B 0.33413 0.411 B 0.28709 0.093 T 0.22556 -1.0213 8 0.54805 T 0.06 . 5.601 0.17353 0.9999:0.0:1.0E-4:0.0 rs5749408 181 O75679 RFPL3_HUMAN C 152;181;152 ENSP00000380609:Y152C;ENSP00000249007:Y181C;ENSP00000371520:Y152C ENSP00000249007:Y181C Y + 2 0 RFPL3 31086407 0.989000 0.36119 0.246000 0.24233 0.050000 0.14768 1.786000 0.38694 0.528000 0.28580 0.172000 0.16884 TAC NOVEL RFPL3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259052.1 5 39.08581 KEEP 5 0 0 130 3841 AA 1 1 0 + 19 60 711 0 0 44.639103 510 60 17474 804 ENST00000397468.1 0.035917 1 RFPL3 10738 __UNKNOWN__ __UNKNOWN__ 22 32756555 32756555 __UNKNOWN__ Silent SNP G G C rs136471 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:32756555G>C ENST00000397468.1 + 3 621 c.603G>C c.(601-603)acG>acC p.T201T RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000382088.3_Silent_p.T201T|RFPL3_ENST00000249007.4_Silent_p.T230T NM_006604.2 NP_006595.1 O75679 RFPL3_HUMAN ret finger protein-like 3 230 B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}. NA zinc ion binding (GO:0008270) cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 CTGCCAGCACGGTGCCGCTGA 0.507 NA g||| 780 0.155751 0.0469 0.0951 5008 , , NA 21068 0.4603 NA 0.0636 False NA ,,, NA NA NA 2504 0.1268 NA NA NA NA 0 101 95 97 NA NA 22 NA 32756555 2203 4300 6503 SO:0001819 synonymous_variant AJ010232 CCDS13904.1, CCDS43011.1 22q12 2006-04-25 ENSG00000128276 ENSG00000128276 10738 9980 protein-coding gene gene with protein product 605970 NA 10508838 Standard NM_006604 NM_006604 NA Approved uc010gwn.3 O75679 OTTHUMG00000030290 ENST00000397468.1:c.603G>C chr22.hg19:g.32756555G>C NA A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4 hg19 CCDS13904.1 0.02 21.911028 CACxGTG COVERED NOVEL RFPL3-002 NOVEL basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000259052.1 4 39.124881 KEEP 0 0 0 130 4503 GG 1 1 0 + 18 60 619 0 0 35.891124 547 60 19672 876 ENST00000397468.1 0.031858 1 TIMP3 7078 __UNKNOWN__ __UNKNOWN__ 22 33253292 33253292 __UNKNOWN__ Silent SNP C C T rs11547635 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:33253292C>T ENST00000266085.6 + 3 562 c.261C>T c.(259-261)tcC>tcT p.S87S SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron NM_000362.4 NP_000353.1 P35625 TIMP3_HUMAN TIMP metallopeptidase inhibitor 3 87 NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}. NA cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601) basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191) endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 CGGAAGCTTCCGAGAGTCTCT 0.517 NA C||| 718 0.143371 0.0461 0.232 5008 , , NA 20978 0.3581 NA 0.0616 False NA ,,, NA NA NA 2504 0.0746 NA NA NA NA 0 C ,,, 271,4135 152.5+/-186.2 4,263,1936 161 130 140 261,,, -8.9 0.7 22 dbSNP_120 140 632,7968 162.9+/-215.5 25,582,3693 no coding-synonymous,intron,intron,intron TIMP3,SYN3 NM_000362.4,NM_001135774.1,NM_003490.3,NM_133633.2 ,,, 29,845,5629 TT,TC,CC 7.3488,6.1507,6.9429 ,,, 87/212,,, 33253292 903,12103 2203 4300 6503 SO:0001819 synonymous_variant CCDS13911.1 22q12.3 2013-01-08 2008-07-31 ENSG00000100234 ENSG00000100234 7078 11822 protein-coding gene gene with protein product 188826 tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) SFD NA 8188246, 12652295 Standard NM_000362 NM_000362 NA Approved uc003anb.3 P35625 OTTHUMG00000030784 ENST00000266085.6:c.261C>T chr22.hg19:g.33253292C>T NA B2RBY9|Q5THV4|Q9UC74|Q9UGS2 hg19 CCDS13911.1 0.02 4.687235 TTCxGAG COVERED NOVEL TIMP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075672.2 3 9.299101 KEEP 0 2 66 54 1817 CC 1 0.999999 0 + 6 60 233 0 0 15.732218 118 60 4099 216 ENST00000266085.6 0.048387 0.999999 LARGE 9215 __UNKNOWN__ __UNKNOWN__ 22 33562683 33562683 __UNKNOWN__ 5'UTR SNP T T C rs743794 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:33562683T>C ENST00000421232.1 - 0 285 O95461 LARGE_HUMAN like-glycosyltransferase NA NA glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486) integral component of Golgi membrane (GO:0030173) acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TCCAACATGCTGTAAAATTAG 0.493 NA T||| 1071 0.213858 0.2315 0.0793 5008 , , NA 23144 0.2212 NA 0.163 False NA ,,, NA NA NA 2504 0.3303 NA NA NA Colon(70;397 1175 4573 19089 45288) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ007583 CCDS13912.1 22q12.3 2013-02-22 ENSG00000133424 ENSG00000133424 9215 Glycosyltransferase family 8 domain containing 6511 protein-coding gene gene with protein product 603590 NA 9892679, 10591208, 12966029 Standard NM_133642 NM_004737 NA Approved KIAA0609 uc003ane.4 O95461 OTTHUMG00000150914 ENST00000421232.1:c.-311A>G chr22.hg19:g.33562683T>C NA B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22 hg19 0.02 35.338438 TGCxGTA COVERED NOVEL LARGE-015 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000471750.1 3 17.151783 KEEP 0 0 0 57 1796 TT 1 1 0 - 21 60 749 1 0 42.202984 830 60 30942 1061 ENST00000421232.1 0.024677 1 LARGE 9215 __UNKNOWN__ __UNKNOWN__ 22 33562887 33562887 __UNKNOWN__ Intron SNP G G T rs9609729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:33562887G>T ENST00000421232.1 - 2 150 O95461 LARGE_HUMAN like-glycosyltransferase NA NA glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486) integral component of Golgi membrane (GO:0030173) acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TCTATGCAATGATACTGGCTA 0.393 NA T||| 2496 0.498403 0.4818 0.5159 5008 , , NA 21054 0.3413 NA 0.5696 False NA ,,, NA NA NA 2504 0.5971 NA NA NA Colon(70;397 1175 4573 19089 45288) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ007583 CCDS13912.1 22q12.3 2013-02-22 ENSG00000133424 ENSG00000133424 9215 Glycosyltransferase family 8 domain containing 6511 protein-coding gene gene with protein product 603590 NA 9892679, 10591208, 12966029 Standard NM_133642 NM_004737 NA Approved KIAA0609 uc003ane.4 O95461 OTTHUMG00000150914 ENST00000421232.1:c.447-69C>A chr22.hg19:g.33562887G>T NA B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22 hg19 0.02 6.109554 AATxATA COVERED NOVEL LARGE-015 KNOWN basic|exp_conf processed_transcript NA protein_coding OTTHUMT00000471750.1 2 3.611092 KEEP 0 0 0 12 394 GG 0.993634 0.993634 0 - 9 60 328 0 0 21.160569 191 60 7061 217 ENST00000421232.1 0.045 1 LARGE 9215 __UNKNOWN__ __UNKNOWN__ 22 34157526 34157526 __UNKNOWN__ 5'UTR SNP G G A rs16992986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:34157526G>A ENST00000354992.2 - 0 509 LARGE_ENST00000402320.1_5'UTR|LARGE_ENST00000437602.2_5'UTR|LARGE_ENST00000337431.2_5'UTR|LARGE_ENST00000397394.2_5'UTR NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase NA NA glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486) integral component of Golgi membrane (GO:0030173) acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TGAAGTCCTCGGCCTCCCTCA 0.502 NA G||| 506 0.101038 0.0061 0.1023 5008 , , NA 18434 0.2659 NA 0.1282 False NA ,,, NA NA NA 2504 0.0307 NA NA NA Colon(70;397 1175 4573 19089 45288) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ007583 CCDS13912.1 22q12.3 2013-02-22 ENSG00000133424 ENSG00000133424 9215 Glycosyltransferase family 8 domain containing 6511 protein-coding gene gene with protein product 603590 NA 9892679, 10591208, 12966029 Standard NM_133642 NM_004737 NA Approved KIAA0609 uc003ane.4 O95461 OTTHUMG00000150914 ENST00000354992.2:c.-63C>T chr22.hg19:g.34157526G>A NA B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22 hg19 CCDS13912.1 0.02 8.788269 CTCxGCC COVERED NOVEL LARGE-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320515.2 1 10.228257 KEEP 0 0 0 34 1152 GG 0.999998 0.999998 0 - 10 60 363 2 0 23.813592 191 60 6815 281 ENST00000354992.2 0.049751 1 MCM5 4174 __UNKNOWN__ __UNKNOWN__ 22 35802661 35802661 __UNKNOWN__ Missense_Mutation SNP C C G rs2307340 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:35802661C>G ENST00000216122.4 + 5 693 c.539C>G c.(538-540)aCc>aGc p.T180S MCM5_ENST00000382011.5_Missense_Mutation_p.T137S NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 180 NA T -> S (in dbSNP:rs2307340). {ECO:0000269|Ref.5}. DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 AACACCCTCACCAACATTGCC 0.637 NA C||| 208 0.0415335 0.0234 0.0288 5008 , , NA 21179 0.006 NA 0.0855 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 C SER/THR 121,4285 91.1+/-129.8 3,115,2085 75 55 61 539 0.2 1 22 dbSNP_100 61 735,7865 177.3+/-227.0 27,681,3592 yes missense MCM5 NM_006739.3 58 30,796,5677 GG,GC,CC 8.5465,2.7463,6.5816 benign 180/735 35802661 856,12150 2203 4300 6503 SO:0001583 missense CCDS13915.1 22q13.1-q13.2 2007-04-04 2007-04-04 ENSG00000100297 ENSG00000100297 4174 6948 protein-coding gene gene with protein product 602696 minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46), MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) CDC46 NA 8751386, 10591208 Standard NM_006739 NA Approved uc003anu.4 P33992 OTTHUMG00000150961 ENST00000216122.4:c.539C>G chr22.hg19:g.35802661C>G ENSP00000216122:p.Thr180Ser NA O60785|Q14578|Q9BTJ4|Q9BWL8 hg19 CCDS13915.1 0.02 6.181804 TCAxCAA COVERED 90 0.04120879120879121 14 0.028455284552845527 9 0.024861878453038673 3 0.005244755244755245 64 0.08443271767810026 C 5.317 0.243830 0.10077 0.027463 0.085465 ENSG00000100297 ENST00000216122;ENST00000382011;ENST00000444582;ENST00000416905;ENST00000444778 T;T;T;T 0.04654 3.58;3.58;3.58;3.58 3.94 0.199 0.15175 Nucleic acid-binding, OB-fold-like (1); 0.558871 0.18678 N 0.134238 T 0.00109 0.0003 N 0.11255 0.115 0.24550 N 0.994025 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.49163 -0.8968 10 0.10636 T 0.68 -30.8481 8.3315 0.32189 0.302:0.3613:0.3367:0.0 rs2307340;rs17720368;rs52837575;rs2307340 137;180 B1AHB1;P33992 .;MCM5_HUMAN S 180;137;89;212;37 ENSP00000216122:T180S;ENSP00000371441:T137S;ENSP00000393977:T212S;ENSP00000408705:T37S ENSP00000216122:T180S T + 2 0 MCM5 34132661 0.701000 0.27806 1.000000 0.80357 0.998000 0.95712 -0.180000 0.09754 0.397000 0.25310 0.561000 0.74099 ACC NOVEL MCM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320661.3 1 24.379016 KEEP 0 0 0 81 2882 CC 1 1 0 + 6 60 215 0 0 13.128631 162 60 5935 288 ENST00000216122.4 0.035714 1 MCM5 4174 __UNKNOWN__ __UNKNOWN__ 22 35806616 35806616 __UNKNOWN__ Intron SNP T T C rs530761706|rs4645776 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:35806616T>C ENST00000216122.4 + 7 906 MCM5_ENST00000382011.5_Intron NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 GCTCAGCATGTGGTGCCTGTG 0.582 NA T||| 126 0.0251597 0.0295 0.0216 5008 , , NA 21754 0.004 NA 0.0457 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS13915.1 22q13.1-q13.2 2007-04-04 2007-04-04 ENSG00000100297 ENSG00000100297 4174 6948 protein-coding gene gene with protein product 602696 minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46), MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) CDC46 NA 8751386, 10591208 Standard NM_006739 NA Approved uc003anu.4 P33992 OTTHUMG00000150961 ENST00000216122.4:c.753-121T>C chr22.hg19:g.35806616T>C NA O60785|Q14578|Q9BTJ4|Q9BWL8 hg19 CCDS13915.1 0.02 4.041047 ATGxGGT COVERED NOVEL MCM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320661.3 1 3.309563 KEEP 0 0 0 11 327 TT 0.993072 0.99307 0 + 7 60 248 0 0 16.608973 111 60 3844 136 ENST00000216122.4 0.059322 0.999998 MCM5 4174 __UNKNOWN__ __UNKNOWN__ 22 35820254 35820254 __UNKNOWN__ 3'UTR SNP G G A rs4645824 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:35820254G>A ENST00000216122.4 + 0 2365 MCM5_ENST00000382011.5_3'UTR NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 NA NA DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278) MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGTGAGTCGCGCCGCCTCACT 0.657 NA G||| 125 0.0249601 0.0295 0.0202 5008 , , NA 17515 0.004 NA 0.0457 False NA ,,, NA NA NA 2504 0.0225 NA NA NA NA 0 G 123,4047 2,119,1964 32 24 27 -0.9 0.1 22 dbSNP_111 27 366,7748 6,354,3697 no utr-3 MCM5 NM_006739.3 8,473,5661 AA,AG,GG 4.5107,2.9496,3.9808 35820254 489,11795 2085 4057 6142 SO:0001624 3_prime_UTR_variant CCDS13915.1 22q13.1-q13.2 2007-04-04 2007-04-04 ENSG00000100297 ENSG00000100297 4174 6948 protein-coding gene gene with protein product 602696 minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46), MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) CDC46 NA 8751386, 10591208 Standard NM_006739 NA Approved uc003anu.4 P33992 OTTHUMG00000150961 ENST00000216122.4:c.*6G>A chr22.hg19:g.35820254G>A NA O60785|Q14578|Q9BTJ4|Q9BWL8 hg19 CCDS13915.1 0.02 3.969262 CGCxCCG COVERED NOVEL MCM5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320661.3 2 26.783603 KEEP 0 0 0 89 3063 GG 1 0.999997 0 + 5 60 174 0 0 10.862247 110 60 3670 265 ENST00000216122.4 0.043478 0.999997 RASD2 23551 __UNKNOWN__ __UNKNOWN__ 22 35948265 35948265 __UNKNOWN__ 3'UTR SNP G G C rs736212 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:35948265G>C ENST00000216127.4 + 0 1629 NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 NA NA locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963) plasma membrane (GO:0005886) G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 TCCTGAGTCCGCTTGTCCACA 0.577 NA C||| 2255 0.45028 0.4667 0.4438 5008 , , NA 17960 0.5744 NA 0.2584 False NA ,,, NA NA NA 2504 0.502 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF279143 CCDS13916.1 22q13.1 2014-05-09 ENSG00000100302 ENSG00000100302 23551 18229 protein-coding gene gene with protein product tumor endothelial marker 2, Ras homolog enriched in striatum 612842 NA 10947988, 10467249, 14724584 Standard NM_014310 NM_014310 NA Approved TEM2, Rhes, MGC:4834 uc003anx.3 Q96D21 OTTHUMG00000150607 ENST00000216127.4:c.*186G>C chr22.hg19:g.35948265G>C NA O95520|Q5THY8 hg19 CCDS13916.1 0.02 9.485624 TCCxCTT COVERED NOVEL RASD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319063.1 3 21.467706 KEEP 0 1 27 81 2785 GG 1 1 0 + 8 60 303 0 0 19.135761 216 60 7627 393 ENST00000216127.4 0.035714 1 RASD2 23551 __UNKNOWN__ __UNKNOWN__ 22 35948293 35948293 __UNKNOWN__ 3'UTR SNP T T G rs736211 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:35948293T>G ENST00000216127.4 + 0 1657 NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 NA NA locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963) plasma membrane (GO:0005886) G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 GGTGGTTTCATCTCCTCTGTG 0.572 NA G||| 2666 0.532348 0.6452 0.5288 5008 , , NA 18414 0.5744 NA 0.3648 False NA ,,, NA NA NA 2504 0.5112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF279143 CCDS13916.1 22q13.1 2014-05-09 ENSG00000100302 ENSG00000100302 23551 18229 protein-coding gene gene with protein product tumor endothelial marker 2, Ras homolog enriched in striatum 612842 NA 10947988, 10467249, 14724584 Standard NM_014310 NM_014310 NA Approved TEM2, Rhes, MGC:4834 uc003anx.3 Q96D21 OTTHUMG00000150607 ENST00000216127.4:c.*214T>G chr22.hg19:g.35948293T>G NA O95520|Q5THY8 hg19 CCDS13916.1 0.02 9.556728 TCAxCTC COVERED NOVEL RASD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319063.1 3 20.461318 KEEP 0 0 0 68 2184 TT 1 1 0 + 8 60 307 0 0 19.665976 208 60 7516 344 ENST00000216127.4 0.037037 1 RASD2 23551 __UNKNOWN__ __UNKNOWN__ 22 35948555 35948555 __UNKNOWN__ 3'UTR SNP G G C rs3747159 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:35948555G>C ENST00000216127.4 + 0 1919 NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 NA NA locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963) plasma membrane (GO:0005886) G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924) endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CAACTCTTACGCTCTGGTTCA 0.587 NA C||| 2664 0.531949 0.6437 0.5288 5008 , , NA 16617 0.5744 NA 0.3648 False NA ,,, NA NA NA 2504 0.5112 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF279143 CCDS13916.1 22q13.1 2014-05-09 ENSG00000100302 ENSG00000100302 23551 18229 protein-coding gene gene with protein product tumor endothelial marker 2, Ras homolog enriched in striatum 612842 NA 10947988, 10467249, 14724584 Standard NM_014310 NM_014310 NA Approved TEM2, Rhes, MGC:4834 uc003anx.3 Q96D21 OTTHUMG00000150607 ENST00000216127.4:c.*476G>C chr22.hg19:g.35948555G>C NA O95520|Q5THY8 hg19 CCDS13916.1 0.02 6.708447 TACxCTC COVERED NOVEL RASD2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319063.1 1 9.665557 KEEP 0 1 34 44 1510 GG 1 1 0 + 9 60 332 0 0 21.580487 190 60 6507 292 ENST00000216127.4 0.045226 1 APOL4 80832 __UNKNOWN__ __UNKNOWN__ 22 36597881 36597881 __UNKNOWN__ 5'UTR SNP G G T rs132735 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:36597881G>T ENST00000405511.1 - 0 322 APOL4_ENST00000479929.1_Intron|APOL4_ENST00000429038.2_5'UTR|APOL4_ENST00000328429.4_5'UTR|APOL4_ENST00000397275.2_5'UTR|APOL4_ENST00000404685.3_Intron|APOL4_ENST00000352371.1_Intron|APOL4_ENST00000332987.1_5'UTR NM_030643.3 NP_085146.2 Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 NA NA lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157) extracellular space (GO:0005615) lipid binding (GO:0008289) lung(1) 1 GACACAGTGCGTCCCCTCTAG 0.552 NA -||| 2499 0.499002 0.4781 0.3963 5008 , , NA 19315 0.8323 NA 0.2704 False NA ,,, NA NA NA 2504 0.4918 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF305226 CCDS74851.1, CCDS74852.1 22q11.2-q13.2 2013-01-24 ENSG00000100336 ENSG00000100336 80832 Apolipoproteins 14867 protein-coding gene gene with protein product 607254 NA 11374903 Standard NM_145660 NM_030643 NA Approved APOLIV uc003aox.3 Q9BPW4 OTTHUMG00000150630 ENST00000405511.1:c.-101C>A chr22.hg19:g.36597881G>T NA Q9BQ37|Q9BXQ8 hg19 0.02 14.842645 TGCxTCC COVERED NOVEL APOL4-002 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000319256.2 12 28.289133 KEEP 0 0 0 94 3189 GG 1 1 0 - 16 60 539 0 0 32.798933 369 60 12491 562 ENST00000405511.1 0.041558 1 APOL2 23780 __UNKNOWN__ __UNKNOWN__ 22 36622906 36622906 __UNKNOWN__ 3'UTR SNP T T C rs129607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:36622906T>C ENST00000249066.6 - 0 2034 APOL2_ENST00000358502.5_3'UTR NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 NA NA acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275) endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 TCTCCAGTCCTCTCTCCTCCC 0.502 NA N||| 3320 0.662939 0.5242 0.5389 5008 , , NA 17855 0.9673 NA 0.5626 False NA ,,, NA NA NA 2504 0.728 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF324224 CCDS43014.1 22q12.3 2013-09-20 ENSG00000128335 ENSG00000128335 23780 Apolipoproteins 619 protein-coding gene gene with protein product apolipoprotein L-II 607252 NA 10591208, 11374903 Standard NM_145637 NM_145637 NA Approved APOL-II uc003apa.3 Q9BQE5 OTTHUMG00000150634 ENST00000249066.6:c.*544A>G chr22.hg19:g.36622906T>C NA B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10 hg19 CCDS43014.1 0.02 36.61065 TCCxCTC COVERED NOVEL APOL2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000319279.1 9 39.716925 KEEP 0 0 0 132 4178 TT 1 1 0 - 37 60 1366 0 0 90.183652 727 60 26662 1078 ENST00000249066.6 0.048429 1 APOL2 23780 __UNKNOWN__ __UNKNOWN__ 22 36623148 36623148 __UNKNOWN__ 3'UTR SNP T T C rs132759 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:36623148T>C ENST00000249066.6 - 0 1792 APOL2_ENST00000358502.5_3'UTR NM_145637.1 NP_663612.1 Q9BQE5 APOL2_HUMAN apolipoprotein L, 2 NA NA acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275) endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020) high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 gatcacgaggtcaggagatgg 0.547 NA N||| 2572 0.513578 0.3729 0.353 5008 , , NA 15951 0.9296 NA 0.3161 False NA ,,, NA NA NA 2504 0.592 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF324224 CCDS43014.1 22q12.3 2013-09-20 ENSG00000128335 ENSG00000128335 23780 Apolipoproteins 619 protein-coding gene gene with protein product apolipoprotein L-II 607252 NA 10591208, 11374903 Standard NM_145637 NM_145637 NA Approved APOL-II uc003apa.3 Q9BQE5 OTTHUMG00000150634 ENST00000249066.6:c.*302A>G chr22.hg19:g.36623148T>C NA B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10 hg19 CCDS43014.1 0.02 8.15608 AGGxCAG COVERED NOVEL APOL2-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000319279.1 1 12.335305 KEEP 0 0 0 41 1299 TT 1 1 0 - 9 60 322 0 0 19.852383 230 60 8123 284 ENST00000249066.6 0.037657 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 36663627 36663627 __UNKNOWN__ IGR SNP C C T rs3886200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:36663627C>T NA NA APOL1 (51 upstream) : MYH9 (13699 downstream) NA NA NA gctttgggggccatcagtctc 0.512 NA c||| 2993 0.597644 0.5416 0.6311 5008 , , NA 19473 0.7659 NA 0.4612 False NA ,,, NA NA NA 2504 0.6166 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.36663627C>T NA hg19 0.02 3.765414 GGGxCAT COVERED NOVEL 0 1 4.815532 KEEP 1 0 0 16 554 CC 0.997832 0.997831 0 8 60 283 0 0 19.162479 119 70 4179 146 0.062992 1 MYH9 4627 __UNKNOWN__ __UNKNOWN__ 22 36677856 36677856 __UNKNOWN__ 3'UTR SNP C C A rs371270257 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:36677856C>A ENST00000216181.5 - 0 6971 NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle NA NA actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796) actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931) actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTGGGAGGGCCGCTGGCCCC 0.532 NA T ALK ALCL Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome Hereditary Macrothrombocytopenia, MYH9-associated .||| 6 0.00119808 0.0 0.0 5008 , , NA 16825 0.005 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA Dom yes 22 22q13.1 4627 myosin, heavy polypeptide 9, non-muscle yes L 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Familial Cancer Database MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA CCDS13927.1 22q13.1 2014-09-17 2006-09-29 ENSG00000100345 ENSG00000100345 4627 Myosins / Myosin superfamily : Class II 7579 protein-coding gene gene with protein product nonmuscle myosin heavy chain II-A 160775 myosin, heavy polypeptide 9, non-muscle DFNA17 NA 1860190, 11023810 Standard NM_002473 NM_002473 NA Approved NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS uc003apg.3 P35579 OTTHUMG00000030429 ENST00000216181.5:c.*858G>T chr22.hg19:g.36677856C>A NA A8K6E4|O60805|Q60FE2|Q86T83 hg19 CCDS13927.1 0.02 1.625465 GGGxCGC COVERED NOVEL MYH9-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000259110.3 1 7.824085 KEEP 0 0 0 26 882 CC 0.999957 0.999683 0 - 4 60 135 0 0 8.367068 83 60 3010 129 ENST00000216181.5 0.045977 0.999726 TMPRSS6 164656 __UNKNOWN__ __UNKNOWN__ 22 37494318 37494318 __UNKNOWN__ Intron SNP T T C rs732755 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37494318T>C ENST00000406725.1 - 3 408 TMPRSS6_ENST00000442782.2_Intron|TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000346753.3_Intron|TMPRSS6_ENST00000406856.1_Intron Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 NA NA angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CTCATCTGCTTCCATGGTGCC 0.542 NA T||| 689 0.13758 0.0756 0.1182 5008 , , NA 21724 0.1796 NA 0.1899 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AY055383 CCDS13941.1, CCDS74856.1, CCDS74857.1 22q13.1 2010-04-13 ENSG00000187045 ENSG00000187045 164656 Serine peptidases / Transmembrane 16517 protein-coding gene gene with protein product 609862 NA Standard NM_153609 NM_001289000 NA Approved FLJ30744 uc003aqs.1 Q8IU80 OTTHUMG00000150541 ENST00000406725.1:c.336+137A>G chr22.hg19:g.37494318T>C NA B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8 hg19 0.02 4.71377 GCTxCCA COVERED NOVEL TMPRSS6-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318820.1 0 4.512216 KEEP 0 0 0 15 430 TT 0.99649 0.996489 0 - 7 60 265 0 0 18.229975 114 60 3979 141 ENST00000406725.1 0.057851 0.999999 TMPRSS6 164656 __UNKNOWN__ __UNKNOWN__ 22 37494420 37494420 __UNKNOWN__ Intron SNP T T C rs732756 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37494420T>C ENST00000406725.1 - 3 408 TMPRSS6_ENST00000442782.2_Intron|TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000346753.3_Intron|TMPRSS6_ENST00000406856.1_Intron Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 NA NA angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) serine-type endopeptidase activity (GO:0004252) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TTCACCCCCATATTCCCTCCC 0.577 NA C||| 689 0.13758 0.0756 0.1182 5008 , , NA 18150 0.1796 NA 0.1899 False NA ,,, NA NA NA 2504 0.138 NA NA NA NA 0 C 396,4010 790.3+/-415.0 33,330,1840 152 154 153 -1.9 0 22 dbSNP_86 153 1889,6711 728.3+/-406.7 197,1495,2608 no intron TMPRSS6 NM_153609.2 230,1825,4448 CC,CT,TT 21.9651,8.9877,17.5688 37494420 2285,10721 2203 4300 6503 SO:0001627 intron_variant AY055383 CCDS13941.1, CCDS74856.1, CCDS74857.1 22q13.1 2010-04-13 ENSG00000187045 ENSG00000187045 164656 Serine peptidases / Transmembrane 16517 protein-coding gene gene with protein product 609862 NA Standard NM_153609 NM_001289000 NA Approved FLJ30744 uc003aqs.1 Q8IU80 OTTHUMG00000150541 ENST00000406725.1:c.336+35A>G chr22.hg19:g.37494420T>C NA B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8 hg19 0.02 13.353242 CCAxATT COVERED NOVEL TMPRSS6-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000318820.1 0 12.937634 KEEP 0 0 0 43 1300 TT 1 1 0 - 18 60 673 0 0 45.344768 321 60 11334 443 ENST00000406725.1 0.053097 1 IL2RB 3560 __UNKNOWN__ __UNKNOWN__ 22 37533786 37533786 __UNKNOWN__ Intron SNP C C G rs228957 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37533786C>G ENST00000216223.5 - 6 587 NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta NA NA cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CTGGAGACAACAGGGGGTAGG 0.602 NA G||| 2465 0.492212 0.5234 0.4452 5008 , , NA 15601 0.5655 NA 0.4254 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 G 2365,2041 566.4+/-381.9 620,1125,458 51 44 47 0.6 0 22 dbSNP_79 47 3744,4856 616.2+/-396.5 821,2102,1377 no intron IL2RB NM_000878.2 1441,3227,1835 GG,GC,CC 43.5349,46.3232,46.9706 37533786 6109,6897 2203 4300 6503 SO:0001627 intron_variant M26062 CCDS13942.1 22q13 2011-02-15 ENSG00000100385 ENSG00000100385 3560 Interleukins and interleukin receptors, CD molecules 6009 protein-coding gene gene with protein product 146710 interleukin 15 receptor, beta IL15RB NA Standard NM_000878 NA Approved CD122 uc003aqv.1 P14784 OTTHUMG00000150534 ENST00000216223.5:c.389-11G>C chr22.hg19:g.37533786C>G NA B2R765 hg19 CCDS13942.1 0.02 4.860672 CAAxAGG COVERED NOVEL IL2RB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318792.1 0 4.211417 KEEP 0 0 0 14 475 CC 0.995343 0.995343 0 - 12 60 458 0 0 34.276171 115 60 4197 179 ENST00000216223.5 0.094488 1 IL2RB 3560 __UNKNOWN__ __UNKNOWN__ 22 37533795 37533795 __UNKNOWN__ Intron SNP G G C rs228958 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37533795G>C ENST00000216223.5 - 6 587 NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta NA NA cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) ACAGGGGGTAGGGGAgagcag 0.602 NA C||| 2406 0.480431 0.4856 0.438 5008 , , NA 14680 0.5655 NA 0.4215 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 C 2275,2129 574.2+/-383.7 607,1061,534 45 39 41 -5.8 0 22 dbSNP_79 41 3682,4918 617.1+/-396.6 796,2090,1414 no intron IL2RB NM_000878.2 1403,3151,1948 CC,CG,GG 42.814,48.3424,45.809 37533795 5957,7047 2202 4300 6502 SO:0001627 intron_variant M26062 CCDS13942.1 22q13 2011-02-15 ENSG00000100385 ENSG00000100385 3560 Interleukins and interleukin receptors, CD molecules 6009 protein-coding gene gene with protein product 146710 interleukin 15 receptor, beta IL15RB NA Standard NM_000878 NA Approved CD122 uc003aqv.1 P14784 OTTHUMG00000150534 ENST00000216223.5:c.389-20C>G chr22.hg19:g.37533795G>C NA B2R765 hg19 CCDS13942.1 0.02 4.270854 GTAxGGG COVERED NOVEL IL2RB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318792.1 0 3.912243 KEEP 0 0 0 13 440 GG 0.994391 0.99439 0 - 11 60 360 0 0 25.052826 115 60 4107 166 ENST00000216223.5 0.087302 1 C1QTNF6 114904 __UNKNOWN__ __UNKNOWN__ 22 37576486 37576486 __UNKNOWN__ 3'UTR SNP A A G rs9286 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37576486A>G ENST00000337843.2 - 0 2654 C1QTNF6_ENST00000397110.2_3'UTR|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 NA NA protein heterotrimerization (GO:0070208) collagen trimer (GO:0005581)|extracellular space (GO:0005615) breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 AGGCTAGGGGAACACCAGGCC 0.647 NA G||| 2387 0.476637 0.6732 0.4813 5008 , , NA 17357 0.495 NA 0.2783 False NA ,,, NA NA NA 2504 0.3926 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF329842 CCDS13943.1 22q13.1 2014-02-21 ENSG00000133466 ENSG00000133466 114904 14343 protein-coding gene gene with protein product 614910 NA 12975309 Standard NM_182486 NM_031910 NA Approved CTRP6, ZACRP6 uc003aqy.1 Q9BXI9 OTTHUMG00000150538 ENST00000337843.2:c.*1742T>C chr22.hg19:g.37576486A>G NA Q5H9G8|Q6ZRM7 hg19 CCDS13943.1 0.02 12.331613 GGGxACA COVERED NOVEL C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318807.1 0 17.450668 KEEP 0 0 0 58 1801 AA 1 1 0 - 12 60 464 0 0 30.956272 251 60 8592 382 ENST00000337843.2 0.045627 1 C1QTNF6 114904 __UNKNOWN__ __UNKNOWN__ 22 37577145 37577145 __UNKNOWN__ 3'UTR SNP A A T rs5756539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37577145A>T ENST00000337843.2 - 0 1995 C1QTNF6_ENST00000397110.2_Intron|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_Intron NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 NA NA protein heterotrimerization (GO:0070208) collagen trimer (GO:0005581)|extracellular space (GO:0005615) breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 GAGGACCAGCAGCACCTGAAC 0.617 NA A||| 1224 0.244409 0.1498 0.1729 5008 , , NA 17215 0.4663 NA 0.2117 False NA ,,, NA NA NA 2504 0.228 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF329842 CCDS13943.1 22q13.1 2014-02-21 ENSG00000133466 ENSG00000133466 114904 14343 protein-coding gene gene with protein product 614910 NA 12975309 Standard NM_182486 NM_031910 NA Approved CTRP6, ZACRP6 uc003aqy.1 Q9BXI9 OTTHUMG00000150538 ENST00000337843.2:c.*1083T>A chr22.hg19:g.37577145A>T NA Q5H9G8|Q6ZRM7 hg19 CCDS13943.1 0.02 4.268472 AGCxGCA COVERED NOVEL C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318807.1 1 11.434705 KEEP 0 0 0 38 1201 AA 1 1 0 - 5 60 193 0 0 12.183594 144 60 5265 243 ENST00000337843.2 0.033557 1 C1QTNF6 114904 __UNKNOWN__ __UNKNOWN__ 22 37577872 37577872 __UNKNOWN__ 3'UTR SNP A A G rs229518 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37577872A>G ENST00000337843.2 - 0 1268 C1QTNF6_ENST00000397110.2_Intron|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_Intron NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 NA NA protein heterotrimerization (GO:0070208) collagen trimer (GO:0005581)|extracellular space (GO:0005615) breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 ccaggaacatatgagaaacac 0.463 NA G||| 2410 0.48123 0.6536 0.4813 5008 , , NA 18724 0.495 NA 0.2783 False NA ,,, NA NA NA 2504 0.4427 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF329842 CCDS13943.1 22q13.1 2014-02-21 ENSG00000133466 ENSG00000133466 114904 14343 protein-coding gene gene with protein product 614910 NA 12975309 Standard NM_182486 NM_031910 NA Approved CTRP6, ZACRP6 uc003aqy.1 Q9BXI9 OTTHUMG00000150538 ENST00000337843.2:c.*356T>C chr22.hg19:g.37577872A>G NA Q5H9G8|Q6ZRM7 hg19 CCDS13943.1 0.02 4.778318 CATxTGA COVERED NOVEL C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318807.1 2 11.734427 KEEP 0 0 0 39 1189 AA 1 0.999999 0 - 6 60 233 0 0 15.710594 119 60 4303 207 ENST00000337843.2 0.048 0.999999 C1QTNF6 114904 __UNKNOWN__ __UNKNOWN__ 22 37578579 37578579 __UNKNOWN__ Silent SNP C C T rs229519 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37578579C>T ENST00000337843.2 - 3 561 c.486G>A c.(484-486)acG>acA p.T162T C1QTNF6_ENST00000397110.2_Silent_p.T162T|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Silent_p.T38T NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 143 C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}. NA protein heterotrimerization (GO:0070208) collagen trimer (GO:0005581)|extracellular space (GO:0005615) p.T162T(1) breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 CGAAGAGCAGCGTCTGGAAGT 0.627 NA T||| 2327 0.464657 0.6339 0.4769 5008 , , NA 19745 0.495 NA 0.2763 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T , 2520,1886 542.2+/-376.0 720,1080,403 56 59 58 486,486 -6.5 0.9 22 dbSNP_79 58 2273,6327 706.2+/-405.5 304,1665,2331 no coding-synonymous,coding-synonymous C1QTNF6 NM_031910.3,NM_182486.1 , 1024,2745,2734 TT,TC,CC 26.4302,42.8053,36.8522 , 162/279,162/279 37578579 4793,8213 2203 4300 6503 SO:0001819 synonymous_variant AF329842 CCDS13943.1 22q13.1 2014-02-21 ENSG00000133466 ENSG00000133466 114904 14343 protein-coding gene gene with protein product 614910 NA 12975309 Standard NM_182486 NM_031910 NA Approved CTRP6, ZACRP6 uc003aqy.1 Q9BXI9 OTTHUMG00000150538 ENST00000337843.2:c.486G>A chr22.hg19:g.37578579C>T NA Q5H9G8|Q6ZRM7 hg19 CCDS13943.1 0.02 15.463046 CAGxGTC COVERED NOVEL C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318807.1 0 44.241516 KEEP 0 0 0 147 5138 CC 1 1 0 - 12 60 453 0 0 28.19568 348 60 12072 637 ENST00000337843.2 0.033333 1 C1QTNF6 114904 __UNKNOWN__ __UNKNOWN__ 22 37578852 37578852 __UNKNOWN__ Intron SNP C C T rs229521 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37578852C>T ENST00000337843.2 - 3 365 C1QTNF6_ENST00000397110.2_Intron|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 NA NA protein heterotrimerization (GO:0070208) collagen trimer (GO:0005581)|extracellular space (GO:0005615) breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 TCATCTGTGACGGCTCTGCCC 0.547 NA C||| 2337 0.466653 0.6399 0.4784 5008 , , NA 21469 0.495 NA 0.2773 False NA ,,, NA NA NA 2504 0.3896 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF329842 CCDS13943.1 22q13.1 2014-02-21 ENSG00000133466 ENSG00000133466 114904 14343 protein-coding gene gene with protein product 614910 NA 12975309 Standard NM_182486 NM_031910 NA Approved CTRP6, ZACRP6 uc003aqy.1 Q9BXI9 OTTHUMG00000150538 ENST00000337843.2:c.290-77G>A chr22.hg19:g.37578852C>T NA Q5H9G8|Q6ZRM7 hg19 CCDS13943.1 0.02 6.386341 TGAxGGC COVERED NOVEL C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318807.1 0 15.348177 KEEP 0 0 0 51 1728 CC 1 1 0 - 11 60 395 0 0 26.808605 168 60 5694 282 ENST00000337843.2 0.061453 1 C1QTNF6 114904 __UNKNOWN__ __UNKNOWN__ 22 37580334 37580334 __UNKNOWN__ Intron SNP G G A rs229525 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37580334G>A ENST00000337843.2 - 2 365 C1QTNF6_ENST00000397110.2_Intron|C1QTNF6_ENST00000470655.1_Intron NM_031910.3 NP_114116.3 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 NA NA protein heterotrimerization (GO:0070208) collagen trimer (GO:0005581)|extracellular space (GO:0005615) breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1) 11 caggagactgggtttccccat 0.587 NA A||| 1973 0.39397 0.5507 0.3329 5008 , , NA 19666 0.5685 NA 0.2127 False NA ,,, NA NA NA 2504 0.2321 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF329842 CCDS13943.1 22q13.1 2014-02-21 ENSG00000133466 ENSG00000133466 114904 14343 protein-coding gene gene with protein product 614910 NA 12975309 Standard NM_182486 NM_031910 NA Approved CTRP6, ZACRP6 uc003aqy.1 Q9BXI9 OTTHUMG00000150538 ENST00000337843.2:c.289+923C>T chr22.hg19:g.37580334G>A NA Q5H9G8|Q6ZRM7 hg19 CCDS13943.1 0.02 4.258063 CTGxGTT COVERED NOVEL C1QTNF6-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318807.1 1 13.84536 KEEP 0 0 0 46 1647 GG 1 0.999997 0 - 5 60 182 0 0 11.637858 111 60 4104 200 ENST00000337843.2 0.043103 0.999997 SSTR3 6753 __UNKNOWN__ __UNKNOWN__ 22 37600563 37600563 __UNKNOWN__ 3'UTR SNP C C A rs4821599 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37600563C>A ENST00000328544.3 - 0 3813 NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 NA NA cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283) ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 Pasireotide(DB06663) CCACACTCTCCCCAAGCCCTG 0.572 NA C||| 1563 0.312101 0.2005 0.3084 5008 , , NA 18389 0.5863 NA 0.2187 False NA ,,, NA NA NA 2504 0.2791 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS13944.1 22q13.1 2012-08-08 ENSG00000183473 ENSG00000278195 6753 GPCR / Class A : Somatostatin receptors 11332 protein-coding gene gene with protein product 182453 NA 8449518 Standard XM_006724311 NA Approved uc003arb.3 P32745 OTTHUMG00000150537 ENST00000328544.3:c.*2023G>T chr22.hg19:g.37600563C>A NA A8K550|Q53ZR7 hg19 CCDS13944.1 0.02 8.258553 CTCxCCA COVERED NOVEL SSTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318802.1 0 16.251952 KEEP 0 0 0 54 1880 CC 1 1 0 - 9 60 308 0 0 18.86193 207 60 7555 331 ENST00000328544.3 0.041667 1 SSTR3 6753 __UNKNOWN__ __UNKNOWN__ 22 37603021 37603021 __UNKNOWN__ Silent SNP G G A rs2071710 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37603021G>A ENST00000328544.3 - 2 1355 c.822C>T c.(820-822)taC>taT p.Y274Y SSTR3_ENST00000402501.1_Silent_p.Y274Y NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 274 NA cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283) ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 Pasireotide(DB06663) TGTTGAGCACGTAGAAGGGCA 0.662 NA g||| 1564 0.3123 0.2005 0.3069 5008 , , NA 15542 0.5863 NA 0.2197 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 A 812,3594 319.3+/-296.1 77,658,1468 95 71 79 822 -2.2 1 22 dbSNP_96 79 1741,6859 310.4+/-309.8 178,1385,2737 no coding-synonymous SSTR3 NM_001051.2 255,2043,4205 AA,AG,GG 20.2442,18.4294,19.6294 274/419 37603021 2553,10453 2203 4300 6503 SO:0001819 synonymous_variant CCDS13944.1 22q13.1 2012-08-08 ENSG00000183473 ENSG00000278195 6753 GPCR / Class A : Somatostatin receptors 11332 protein-coding gene gene with protein product 182453 NA 8449518 Standard XM_006724311 NA Approved uc003arb.3 P32745 OTTHUMG00000150537 ENST00000328544.3:c.822C>T chr22.hg19:g.37603021G>A NA A8K550|Q53ZR7 hg19 CCDS13944.1 0.02 23.730382 CACxTAG COVERED NOVEL SSTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318802.1 3 42.724998 KEEP 0 0 0 142 4772 GG 1 1 0 - 14 60 522 0 0 30.433582 549 60 19528 859 ENST00000328544.3 0.024867 1 SSTR3 6753 __UNKNOWN__ __UNKNOWN__ 22 37603051 37603051 __UNKNOWN__ Silent SNP C C T rs229569 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37603051C>T ENST00000328544.3 - 2 1325 c.792G>A c.(790-792)gcG>gcA p.A264A SSTR3_ENST00000402501.1_Silent_p.A264A NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 264 NA cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283) ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 Pasireotide(DB06663) GCACGAAGAGCGCCACCACGG 0.672 NA C||| 1957 0.390775 0.4811 0.3343 5008 , , NA 14335 0.5863 NA 0.2227 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 C 1905,2501 528.6+/-372.4 400,1105,698 83 64 70 792 -10.2 0.8 22 dbSNP_79 70 1744,6856 306.4+/-307.9 178,1388,2734 no coding-synonymous SSTR3 NM_001051.2 578,2493,3432 TT,TC,CC 20.2791,43.2365,28.0563 264/419 37603051 3649,9357 2203 4300 6503 SO:0001819 synonymous_variant CCDS13944.1 22q13.1 2012-08-08 ENSG00000183473 ENSG00000278195 6753 GPCR / Class A : Somatostatin receptors 11332 protein-coding gene gene with protein product 182453 NA 8449518 Standard XM_006724311 NA Approved uc003arb.3 P32745 OTTHUMG00000150537 ENST00000328544.3:c.792G>A chr22.hg19:g.37603051C>T NA A8K550|Q53ZR7 hg19 CCDS13944.1 0.02 19.548564 GAGxGCC COVERED NOVEL SSTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318802.1 2 48.454973 KEEP 0 0 0 161 5594 CC 1 1 0 - 15 60 482 0 0 26.146145 514 60 17480 860 ENST00000328544.3 0.028355 1 SSTR3 6753 __UNKNOWN__ __UNKNOWN__ 22 37603744 37603744 __UNKNOWN__ Silent SNP C C T rs86583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37603744C>T ENST00000328544.3 - 2 632 c.99G>A c.(97-99)gcG>gcA p.A33A SSTR3_ENST00000402501.1_Silent_p.A33A NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 33 NA A -> V (in dbSNP:rs4988466). cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283) ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) somatostatin receptor activity (GO:0004994) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 Pasireotide(DB06663) GGCTTGGGCCCGCCGACACGT 0.647 NA C||| 2043 0.407947 0.5461 0.3343 5008 , , NA 17335 0.5863 NA 0.2247 False NA ,,, NA NA NA 2504 0.2781 NA NA NA NA 0 C 2134,2270 550.2+/-378.0 503,1128,571 45 47 46 99 -7.8 0 22 dbSNP_79 46 1779,6821 309.2+/-309.3 185,1409,2706 no coding-synonymous SSTR3 NM_001051.2 688,2537,3277 TT,TC,CC 20.686,48.4559,30.0907 33/419 37603744 3913,9091 2202 4300 6502 SO:0001819 synonymous_variant CCDS13944.1 22q13.1 2012-08-08 ENSG00000183473 ENSG00000278195 6753 GPCR / Class A : Somatostatin receptors 11332 protein-coding gene gene with protein product 182453 NA 8449518 Standard XM_006724311 NA Approved uc003arb.3 P32745 OTTHUMG00000150537 ENST00000328544.3:c.99G>A chr22.hg19:g.37603744C>T NA A8K550|Q53ZR7 hg19 CCDS13944.1 0.02 14.608221 GCCxGCC COVERED NOVEL SSTR3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318802.1 1 27.420296 KEEP 0 1 34 103 3470 CC 1 1 0 - 14 60 477 0 0 29.01415 350 60 11918 562 ENST00000328544.3 0.038462 1 RAC2 5880 __UNKNOWN__ __UNKNOWN__ 22 37628993 37628993 __UNKNOWN__ Intron SNP T T G rs9610684 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37628993T>G ENST00000405484.1 - 3 370 RAC2_ENST00000406508.1_Intron|RAC2_ENST00000249071.6_Intron P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) NA NA actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|GTPase activity (GO:0003924) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 Dextromethorphan(DB00514) GTAAGGTCAATCTCAAACCCC 0.552 NA T||| 874 0.174521 0.1989 0.0836 5008 , , NA 17461 0.2718 NA 0.1223 False NA ,,, NA NA NA 2504 0.1595 NA NA NA NA 0 T 754,3652 305.2+/-288.9 54,646,1503 43 34 37 -2.4 0 22 dbSNP_119 37 1020,7580 214.8+/-254.3 65,890,3345 no intron RAC2 NM_002872.3 119,1536,4848 GG,GT,TT 11.8605,17.113,13.6399 37628993 1774,11232 2203 4300 6503 SO:0001627 intron_variant M64595 CCDS13945.1 22q13.1 2014-09-17 ENSG00000128340 ENSG00000128340 5880 Endogenous ligands 9802 protein-coding gene gene with protein product 602049 NA 2674130 Standard NM_002872 NA Approved EN-7 uc003arc.3 P15153 OTTHUMG00000150540 ENST00000405484.1:c.87-35A>C chr22.hg19:g.37628993T>G NA Q9UDJ4 hg19 0.02 10.371925 CAAxCTC COVERED NOVEL RAC2-007 NOVEL basic|appris_candidate|exp_conf protein_coding NA protein_coding OTTHUMT00000318818.1 0 13.842278 KEEP 0 0 0 46 1493 TT 1 1 0 - 9 60 327 0 0 19.868353 261 60 9449 404 ENST00000405484.1 0.033333 1 CARD10 29775 __UNKNOWN__ __UNKNOWN__ 22 37900771 37900771 __UNKNOWN__ Silent SNP A A G rs3817806 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:37900771A>G ENST00000403299.1 - 9 1605 c.1389T>C c.(1387-1389)tgT>tgC p.C463C CARD10_ENST00000406271.3_Silent_p.C177C|CARD10_ENST00000251973.5_Silent_p.C463C Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 463 NA activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981) CBM complex (GO:0032449)|cytoplasm (GO:0005737) receptor signaling complex scaffold activity (GO:0030159) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GGGAGGAGGCACAGGCCTGGA 0.622 NA A||| 551 0.110024 0.053 0.0461 5008 , , NA 17960 0.125 NA 0.0755 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 A 226,4180 132.9+/-169.3 4,218,1981 52 39 43 1389 -3.5 0.9 22 dbSNP_107 43 519,8081 144.8+/-200.6 13,493,3794 no coding-synonymous CARD10 NM_014550.3 17,711,5775 GG,GA,AA 6.0349,5.1294,5.7281 463/1033 37900771 745,12261 2203 4300 6503 SO:0001819 synonymous_variant AF086324 CCDS13948.1 22q13.1 2008-05-22 ENSG00000100065 ENSG00000100065 29775 16422 protein-coding gene gene with protein product 607209 NA 11259443, 11356195 Standard NM_014550 NM_014550 NA Approved CARMA3, BIMP1 uc003asu.1 Q9BWT7 OTTHUMG00000150592 ENST00000403299.1:c.1389T>C chr22.hg19:g.37900771A>G NA Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0 hg19 CCDS13948.1 0.02 6.068366 GGCxCAG COVERED NOVEL CARD10-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000318997.1 2 12.634188 KEEP 0 0 0 42 1225 AA 1 1 0 - 8 60 261 0 0 16.021397 174 60 6141 249 ENST00000403299.1 0.043956 1 GGA1 26088 __UNKNOWN__ __UNKNOWN__ 22 38004644 38004644 __UNKNOWN__ 5'UTR SNP G G A rs6000840 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38004644G>A ENST00000343632.4 + 0 163 GGA1_ENST00000414350.3_5'UTR NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) CTGAGCGCCGGGAACGGAAAA 0.642 NA G||| 676 0.134984 0.2988 0.0778 5008 , , NA 11459 0.1667 NA 0.0179 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 26088 17842 protein-coding gene gene with protein product 606004 NA 10747088, 10747089, 16407204 Standard NM_013365 NM_013365 NA Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000343632.4:c.-224G>A chr22.hg19:g.38004644G>A NA A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 hg19 CCDS13951.1 0.02 1.959623 CCGxGAA COVERED NOVEL GGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075873.3 1 17.990295 KEEP 0 1 23 68 2332 GG 1 0.999487 0 + 4 60 134 0 0 8.580356 69 60 2495 174 ENST00000343632.4 0.054795 0.999487 GGA1 26088 __UNKNOWN__ __UNKNOWN__ 22 38005058 38005058 __UNKNOWN__ Intron SNP C C G rs13053965 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38005058C>G ENST00000343632.4 + 1 429 GGA1_ENST00000325180.8_Intron|GGA1_ENST00000414350.3_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000381756.5_Intron|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Intron NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GTCGGCCCCTCAGACCCTGGA 0.801 NA C||| 615 0.122804 0.2526 0.0778 5008 , , NA 8250 0.1667 NA 0.0179 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 26088 17842 protein-coding gene gene with protein product 606004 NA 10747088, 10747089, 16407204 Standard NM_013365 NM_013365 NA Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000343632.4:c.43+148C>G chr22.hg19:g.38005058C>G NA A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 hg19 CCDS13951.1 0.02 1.939008 CCTxAGA COVERED NOVEL GGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075873.3 3 12.626946 KEEP 0 0 0 42 1387 CC 1 0.9982 0 + 6 60 218 0 0 15.622107 68 60 2428 133 ENST00000343632.4 0.081081 0.9982 GGA1 26088 __UNKNOWN__ __UNKNOWN__ 22 38005144 38005144 __UNKNOWN__ Intron SNP T T C rs13055343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38005144T>C ENST00000343632.4 + 1 429 GGA1_ENST00000325180.8_Intron|GGA1_ENST00000414350.3_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000381756.5_Intron|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Intron NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) CCCTGGGCCATGACCCCTGGG 0.731 NA C||| 769 0.153554 0.3669 0.0821 5008 , , NA 10514 0.1667 NA 0.0179 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 26088 17842 protein-coding gene gene with protein product 606004 NA 10747088, 10747089, 16407204 Standard NM_013365 NM_013365 NA Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000343632.4:c.43+234T>C chr22.hg19:g.38005144T>C NA A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 hg19 CCDS13951.1 0.02 9.100061 CCAxGAC COVERED 339 0.15521978021978022 182 0.3699186991869919 27 0.07458563535911603 115 0.20104895104895104 15 0.01978891820580475 C 10.48 1.362115 0.24684 . . ENSG00000100083 ENST00000449944 T 0.28895 1.59 2.75 0.44 0.16572 . . . . . T 0.00012 0.0000 . . . 0.58432 P 4.000000000004E-6 . . . . . . T 0.42649 -0.9439 5 0.72032 D 0.01 . 0.536 0.00636 0.2008:0.36:0.1964:0.2428 rs13055343 . . . T 1 ENSP00000390416:M1T ENSP00000390416:M1T M + 2 0 GGA1 36335090 0.001000 0.12720 0.000000 0.03702 0.154000 0.21943 -0.745000 0.04834 -0.076000 0.12775 -0.338000 0.08134 ATG NOVEL GGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075873.3 0 61.942572 KEEP 0 0 0 206 6146 TT 1 1 0 + 10 60 356 0 0 22.902503 201 60 7249 545 ENST00000343632.4 0.047393 1 GGA1 26088 __UNKNOWN__ __UNKNOWN__ 22 38005247 38005247 __UNKNOWN__ Intron SNP G G A rs34634188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38005247G>A ENST00000343632.4 + 1 429 GGA1_ENST00000325180.8_Intron|GGA1_ENST00000414350.3_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000381756.5_Intron|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Intron NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) GCGGCCCGGGGAAGGAGCACG 0.672 NA G||| 678 0.135383 0.3003 0.0778 5008 , , NA 13633 0.1667 NA 0.0179 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 26088 17842 protein-coding gene gene with protein product 606004 NA 10747088, 10747089, 16407204 Standard NM_013365 NM_013365 NA Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000343632.4:c.43+337G>A chr22.hg19:g.38005247G>A NA A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 hg19 CCDS13951.1 0.02 10.593575 GGGxAAG COVERED NOVEL GGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075873.3 3 72.833812 KEEP 0 0 0 242 8499 GG 1 1 0 + 12 60 421 1 0 26.378744 266 60 10031 674 ENST00000343632.4 0.043165 1 GGA1 26088 __UNKNOWN__ __UNKNOWN__ 22 38005266 38005266 __UNKNOWN__ Intron SNP T T C rs71317059 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38005266T>C ENST00000343632.4 + 1 429 GGA1_ENST00000325180.8_Intron|GGA1_ENST00000414350.3_Intron|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000381756.5_Intron|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Intron NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) CGCGAGCGGTTCCCCGGGGTT 0.672 NA C||| 678 0.135383 0.3003 0.0778 5008 , , NA 13730 0.1667 NA 0.0179 False NA ,,, NA NA NA 2504 0.0419 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 26088 17842 protein-coding gene gene with protein product 606004 NA 10747088, 10747089, 16407204 Standard NM_013365 NM_013365 NA Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000343632.4:c.43+356T>C chr22.hg19:g.38005266T>C NA A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 hg19 CCDS13951.1 0.02 9.165792 GGTxCCC COVERED NOVEL GGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075873.3 3 62.588452 KEEP 0 0 0 208 6615 TT 1 1 0 + 11 60 408 0 0 26.483982 238 60 8403 582 ENST00000343632.4 0.044177 1 GGA1 26088 __UNKNOWN__ __UNKNOWN__ 22 38029295 38029295 __UNKNOWN__ 3'UTR SNP G G A rs7582 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38029295G>A ENST00000343632.4 + 0 2883 GGA1_ENST00000337437.4_3'UTR|GGA1_ENST00000406772.1_3'UTR|GGA1_ENST00000325180.8_3'UTR NM_001172687.1|NM_013365.4 NP_001166158.1|NP_037497.1 Q9UJY5 GGA1_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 1 NA NA intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634) breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) CAGGCTGGGGGAACCTCACCT 0.627 NA G||| 825 0.164736 0.3631 0.0937 5008 , , NA 18196 0.2133 NA 0.0179 False NA ,,, NA NA NA 2504 0.0481 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF190862 CCDS13951.1, CCDS33643.1, CCDS54526.1 22q13.31 2010-02-12 2010-02-12 ENSG00000100083 ENSG00000100083 26088 17842 protein-coding gene gene with protein product 606004 NA 10747088, 10747089, 16407204 Standard NM_013365 NM_013365 NA Approved uc003atc.3 Q9UJY5 OTTHUMG00000030985 ENST00000343632.4:c.*577G>A chr22.hg19:g.38029295G>A NA A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1 hg19 CCDS13951.1 0.02 5.625164 GGGxAAC COVERED NOVEL GGA1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075873.3 2 24.06282 KEEP 0 0 0 80 2698 GG 1 1 0 + 8 60 282 0 0 17.694927 178 60 6558 320 ENST00000343632.4 0.043011 1 TRIOBP 11078 __UNKNOWN__ __UNKNOWN__ 22 38130827 38130827 __UNKNOWN__ Missense_Mutation SNP A A T rs183455182 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38130827A>T ENST00000406386.3 + 9 4739 c.4484A>T c.(4483-4485)gAg>gTg p.E1495V NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1495 NA actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAGGCCTGGGAGGAGAAGCCC 0.652 NA A||| 9 0.00179712 0.0 0.0 5008 , , NA 15720 0.0089 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 18 21 20 NA NA 22 NA 38130827 1870 4088 5958 SO:0001583 missense AB051449 CCDS33644.1, CCDS43015.1, CCDS43016.1 22q13.1 2014-06-03 ENSG00000100106 ENSG00000100106 11078 Pleckstrin homology (PH) domain containing 17009 protein-coding gene gene with protein product 609761 DFNB28 NA 11148140, 16385457, 16385458 Standard NM_001039141 NA Approved HRIHFB2122, KIAA1662, Tara, TAP68 uc003atr.3 Q9H2D6 OTTHUMG00000150657 ENST00000406386.3:c.4484A>T chr22.hg19:g.38130827A>T ENSP00000384312:p.Glu1495Val NA B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4 hg19 CCDS43015.1 0.02 6.703128 GGGxGGA COVERED 9 0.004120879120879121 0 0.0 0 0.0 9 0.015734265734265736 0 0.0 A 15.16 2.751213 0.49257 . . ENSG00000100106 ENST00000406386;ENST00000417174 T 0.23552 1.9 5.14 -0.0122 0.13989 . . . . . T 0.06645 0.0170 L 0.27053 0.805 0.80722 D 1 B 0.17465 0.022 B 0.12837 0.008 T 0.16571 -1.0398 9 0.62326 D 0.03 . 1.5121 0.02498 0.4778:0.1489:0.0853:0.288 . 1495 Q9H2D6 TARA_HUMAN V 1495;1456 ENSP00000384312:E1495V ENSP00000384312:E1495V E + 2 0 TRIOBP 36460773 0.997000 0.39634 0.995000 0.50966 0.177000 0.22998 2.178000 0.42519 -0.054000 0.13266 0.383000 0.25322 GAG NOVEL TRIOBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000319439.2 0 32.798971 KEEP 0 0 0 109 3453 AA 1 1 0 + 11 60 388 0 0 26.138396 167 60 5970 378 ENST00000406386.3 0.061798 1 TRIOBP 11078 __UNKNOWN__ __UNKNOWN__ 22 38151217 38151217 __UNKNOWN__ Intron SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38151217G>A ENST00000406386.3 + 14 5832 TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000407319.2_Intron NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein NA NA actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634) actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGTGCAGCTTGGGGGCTGGTG 0.587 NA NA NA NA NA NA NA NA NA NA NA 0 36 30 32 NA NA 22 NA 38151217 2201 4300 6501 SO:0001627 intron_variant AB051449 CCDS33644.1, CCDS43015.1, CCDS43016.1 22q13.1 2014-06-03 ENSG00000100106 ENSG00000100106 11078 Pleckstrin homology (PH) domain containing 17009 protein-coding gene gene with protein product 609761 DFNB28 NA 11148140, 16385457, 16385458 Standard NM_001039141 NA Approved HRIHFB2122, KIAA1662, Tara, TAP68 uc003atr.3 Q9H2D6 OTTHUMG00000150657 ENST00000406386.3:c.5577+20G>A chr22.hg19:g.38151217G>A NA B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4 hg19 CCDS43015.1 0.02 4.664115 CTTxGGG COVERED NOVEL TRIOBP-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000319439.2 0 13.24208 KEEP 0 0 0 44 1489 GG 1 1 0 + 10 60 379 0 0 27.094274 128 60 4710 202 ENST00000406386.3 0.072464 1 PICK1 9463 __UNKNOWN__ __UNKNOWN__ 22 38455469 38455469 __UNKNOWN__ Intron SNP T T A rs713729 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38455469T>A ENST00000404072.3 + 3 500 PICK1_ENST00000468288.1_Intron|PICK1_ENST00000356976.3_Intron|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 NA NA ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202) actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102) cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) tctgaccctctcagaggggct 0.512 NA T||| 704 0.140575 0.0204 0.1441 5008 , , NA 21859 0.1915 NA 0.2763 False NA ,,, NA NA NA 2504 0.1084 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL049654 CCDS13965.1 22q13.1 2006-02-14 2006-02-14 2006-02-14 ENSG00000100151 ENSG00000100151 9463 9394 protein-coding gene gene with protein product 605926 protein kinase C, alpha binding protein, protein interacting with PRKCA PRKCABP NA 10340301, 10591208 Standard NM_012407 XM_006724377 NA Approved dJ1039K5, MGC15204 uc003aus.3 Q9NRD5 OTTHUMG00000151159 ENST00000404072.3:c.153+117T>A chr22.hg19:g.38455469T>A NA B3KS52|O95906 hg19 CCDS13965.1 0.02 1.699799 CTCxCAG COVERED NOVEL PICK1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321569.2 0 6.018707 KEEP 0 0 0 20 648 TT 0.999863 0.999698 0 + 5 60 173 0 0 11.306527 85 60 3003 134 ENST00000404072.3 0.055556 0.999835 SLC16A8 23539 __UNKNOWN__ __UNKNOWN__ 22 38477342 38477342 __UNKNOWN__ Missense_Mutation SNP T T A rs4289289 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38477342T>A ENST00000320521.5 - 4 811 c.703A>T c.(703-705)Agg>Tgg p.R235W SLC16A8_ENST00000469516.1_Intron NM_013356.2 NP_037488.2 O95907 MOT3_HUMAN solute carrier family 16 (monocarboxylate transporter), member 8 235 NA R -> W (in dbSNP:rs4289289). {ECO:0000269|PubMed:10493836}. blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293) kidney(1)|large_intestine(1)|prostate(1) 3 Melanoma(58;0.045) Pyruvic acid(DB00119) GGCCGGACCCTGGGGGATGCC 0.761 NA T||| 2184 0.436102 0.4138 0.4524 5008 , , NA 8857 0.4841 NA 0.497 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 T TRP/ARG 1668,2510 393,882,814 5 6 6 703 0 0 22 dbSNP_111 6 3731,4447 972,1787,1330 no missense SLC16A8 NM_013356.2 101 1365,2669,2144 AA,AT,TT 45.6224,39.9234,43.6954 possibly-damaging 235/505 38477342 5399,6957 2089 4089 6178 SO:0001583 missense AF132610 CCDS13966.1 22q12.3-q13.2 2013-07-18 2013-07-18 ENSG00000100156 ENSG00000100156 23539 Solute carriers 16270 protein-coding gene gene with protein product monocarboxylate transporter 3 610409 solute carrier 16 (monocarboxylic acid transporters), member 8 NA 10493836 Standard NM_013356 NM_013356 NA Approved MCT3, REMP uc003auu.3 O95907 OTTHUMG00000151196 ENST00000320521.5:c.703A>T chr22.hg19:g.38477342T>A ENSP00000321735:p.Arg235Trp NA Q9UBE2 hg19 CCDS13966.1 0.02 2.229547 CCCxGGG COVERED 1006 0.4606227106227106 195 0.39634146341463417 151 0.4171270718232044 284 0.4965034965034965 376 0.49604221635883905 T 11.40 1.627132 0.28978 0.399234 0.456224 ENSG00000100156 ENST00000320521 T 0.80994 -1.44 3.34 -0.0221 0.13948 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 1.774590 0.03632 U 0.238018 T 0.00012 0.0000 L 0.27053 0.805 0.80722 P 0.0 P 0.44260 0.83 B 0.39258 0.295 T 0.19160 -1.0314 9 0.66056 D 0.02 . 5.3072 0.15811 0.0:0.4349:0.0:0.5651 rs4289289 235 O95907 MOT3_HUMAN W 235 ENSP00000321735:R235W ENSP00000321735:R235W R - 1 2 SLC16A8 36807288 0.039000 0.19947 0.001000 0.08648 0.005000 0.04900 0.490000 0.22403 0.190000 0.20209 0.260000 0.18958 AGG NOVEL SLC16A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321724.1 1 12.032194 KEEP 0 0 0 40 1222 TT 1 0.998465 0 - 6 60 213 0 0 15.099256 69 60 2431 156 ENST00000320521.5 0.08 0.998465 SLC16A8 23539 __UNKNOWN__ __UNKNOWN__ 22 38477930 38477930 __UNKNOWN__ Silent SNP G G A rs2235573 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38477930G>A ENST00000320521.5 - 3 432 c.324C>T c.(322-324)ctC>ctT p.L108L SLC16A8_ENST00000469516.1_Intron NM_013356.2 NP_037488.2 O95907 MOT3_HUMAN solute carrier family 16 (monocarboxylate transporter), member 8 108 NA blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886) lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293) kidney(1)|large_intestine(1)|prostate(1) 3 Melanoma(58;0.045) Pyruvic acid(DB00119) AGAGCTCCAGGAGGCGCGTGG 0.667 NA G||| 2180 0.435304 0.4145 0.4524 5008 , , NA 13694 0.4831 NA 0.493 False NA ,,, NA NA NA 2504 0.3425 NA NA NA NA 0 G 1838,2528 406,1026,751 30 32 32 324 0.1 1 22 dbSNP_98 32 4098,4478 988,2122,1178 no coding-synonymous SLC16A8 NM_013356.2 1394,3148,1929 AA,AG,GG 47.7845,42.098,45.8662 108/505 38477930 5936,7006 2183 4288 6471 SO:0001819 synonymous_variant AF132610 CCDS13966.1 22q12.3-q13.2 2013-07-18 2013-07-18 ENSG00000100156 ENSG00000100156 23539 Solute carriers 16270 protein-coding gene gene with protein product monocarboxylate transporter 3 610409 solute carrier 16 (monocarboxylic acid transporters), member 8 NA 10493836 Standard NM_013356 NM_013356 NA Approved MCT3, REMP uc003auu.3 O95907 OTTHUMG00000151196 ENST00000320521.5:c.324C>T chr22.hg19:g.38477930G>A NA Q9UBE2 hg19 CCDS13966.1 0.02 6.187565 CAGxAGG COVERED NOVEL SLC16A8-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321724.1 1 22.267811 KEEP 0 0 0 74 2542 GG 1 1 0 - 6 60 210 0 0 12.809955 151 60 5451 284 ENST00000320521.5 0.038217 1 MAFF 23764 __UNKNOWN__ __UNKNOWN__ 22 38609950 38609950 __UNKNOWN__ Intron SNP G G A rs2235264 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:38609950G>A ENST00000338483.2 + 2 398 MAFF_ENST00000426621.2_Intron|MAFF_ENST00000538320.1_Intron|MAFF_ENST00000538999.1_Intron|MAFF_ENST00000407965.1_Intron Q9ULX9 MAFF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F NA NA blood coagulation (GO:0007596)|in utero embryonic development (GO:0001701)|parturition (GO:0007567)|regulation of epidermal cell differentiation (GO:0045604)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366) nucleoplasm (GO:0005654) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) lung(2)|skin(1) 3 Melanoma(58;0.045) TGCCCATGCAGAGCCTCCTCA 0.582 NA G||| 1818 0.363019 0.1142 0.4971 5008 , , NA 18233 0.5179 NA 0.5308 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 G ,,, 268,1116 24,220,448 50 48 49 ,,, 0.7 0 22 dbSNP_98 49 1660,1522 413,834,344 no intron,intron,intron,intron MAFF NM_001161572.1,NM_001161573.1,NM_001161574.1,NM_012323.3 ,,, 437,1054,792 AA,AG,GG 47.8316,19.3642,42.2251 ,,, ,,, 38609950 1928,2638 692 1591 2283 SO:0001627 intron_variant AJ010857 CCDS13968.1, CCDS54528.1 22q13.1 2013-07-09 2013-07-09 ENSG00000185022 ENSG00000185022 23764 6780 protein-coding gene gene with protein product 604877 NA 10591208 Standard NM_001161572 NM_012323 NA Approved hMafF uc011anr.2 Q9ULX9 OTTHUMG00000151163 ENST00000338483.2:c.36+54G>A chr22.hg19:g.38609950G>A NA B4DV49|Q9Y525 hg19 CCDS13968.1 0.02 7.583412 GCAxAGC COVERED NOVEL MAFF-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321624.1 0 8.159513 KEEP 0 1 28 37 1239 GG 1 1 0 + 8 60 268 0 0 16.020728 194 60 7236 250 ENST00000338483.2 0.039604 1 GTPBP1 9567 __UNKNOWN__ __UNKNOWN__ 22 39126594 39126594 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39126594C>T ENST00000216044.5 + 12 2150 NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 NA NA GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165) cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822) endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CAGTGCTTCTCAAGCTCCTTC 0.647 NA NA NA NA NA NA NA NA NA NA NA 0 27 29 28 NA NA 22 NA 39126594 2203 4300 6503 SO:0001627 intron_variant U87964 CCDS13977.2 22q13.1 2008-07-01 ENSG00000100226 ENSG00000100226 9567 4669 protein-coding gene gene with protein product 602245 NA 9070279 Standard NM_004286 XM_005261857 NA Approved GP-1, HSPC018 uc003awg.3 O00178 OTTHUMG00000151002 ENST00000216044.5:c.1918-23C>T chr22.hg19:g.39126594C>T NA Q6IC67 hg19 CCDS13977.2 0.02 14.784891 TCTxAAG COVERED NOVEL GTPBP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000075532.1 4 40.631791 KEEP 0 0 0 135 4788 CC 1 1 0 + 15 60 528 0 0 32.950803 342 60 13126 642 ENST00000216044.5 0.042017 1 SUN2 25777 __UNKNOWN__ __UNKNOWN__ 22 39148537 39148537 __UNKNOWN__ Missense_Mutation SNP T T C rs2072799 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39148537T>C ENST00000405510.1 - 3 455 c.97A>G c.(97-99)Acc>Gcc p.T33A SUN2_ENST00000406622.1_Missense_Mutation_p.T33A|SUN2_ENST00000411587.2_Missense_Mutation_p.T68A|SUN2_ENST00000405018.1_Missense_Mutation_p.T33A|SUN2_ENST00000216064.4_Missense_Mutation_p.T33A NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 33 LMNA-binding. {ECO:0000250}.|Ser-rich. NA T -> A (in dbSNP:rs2072799). centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335) condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993) identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 TTAAACAGGGTGCTCTGACTC 0.637 NA T||| 189 0.0377396 0.0 0.0014 5008 , , NA 15656 0.1815 NA 0.002 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T ALA/THR,ALA/THR,ALA/THR 5,4401 9.9+/-24.2 0,5,2198 62 55 58 97,97,97 1.2 1 22 dbSNP_96 58 6,8594 5.0+/-18.6 0,6,4294 yes missense,missense,missense SUN2 NM_001199579.1,NM_001199580.1,NM_015374.2 58,58,58 0,11,6492 CC,CT,TT 0.0698,0.1135,0.0846 benign,benign,benign 33/739,33/718,33/718 39148537 11,12995 2203 4300 6503 SO:0001583 missense AF202723 CCDS13978.1, CCDS56231.1 22q12-q13 2010-05-18 2010-05-18 2010-01-27 ENSG00000100242 ENSG00000100242 25777 14210 protein-coding gene gene with protein product 613569 unc-84 homolog B (C. elegans) UNC84B NA 10508607, 10375507 Standard XM_039332 NM_015374 NA Approved uc010gxq.2 Q9UH99 OTTHUMG00000151031 ENST00000405510.1:c.97A>G chr22.hg19:g.39148537T>C ENSP00000385740:p.Thr33Ala NA B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3 hg19 CCDS13978.1 0.02 6.435237 GGGxGCT COVERED 103 0.04716117216117216 0 0.0 1 0.0027624309392265192 100 0.17482517482517482 2 0.002638522427440633 T 10.48 1.361435 0.24684 0.001135 6.98E-4 ENSG00000100242 ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058;ENST00000456894;ENST00000420859;ENST00000452294;ENST00000433561;ENST00000417332;ENST00000439339 T;T;T;T;T;T;T;T;T;T;T;T 0.32515 2.69;2.69;2.74;2.69;2.64;1.48;1.51;1.48;1.5;1.51;1.45;1.5 4.72 1.18 0.20946 . 0.790355 0.11637 N 0.544206 T 0.00039 0.0001 N 0.19112 0.55 0.43394 P 0.0044840000000000435 B;B;B;B;B 0.31485 0.158;0.325;0.325;0.325;0.144 B;B;B;B;B 0.26693 0.062;0.06;0.06;0.072;0.035 T 0.24225 -1.0166 9 0.56958 D 0.05 -17.5769 2.6556 0.05011 0.2775:0.2074:0.0:0.5151 rs2072799;rs2072799 68;68;33;33;33 B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99 .;.;.;.;SUN2_HUMAN A 33;33;33;33;68;33;33;33;33;33;33;33 ENSP00000385740:T33A;ENSP00000216064:T33A;ENSP00000385616:T33A;ENSP00000383992:T33A;ENSP00000395601:T68A;ENSP00000406941:T33A;ENSP00000415588:T33A;ENSP00000408834:T33A;ENSP00000414950:T33A;ENSP00000411615:T33A;ENSP00000412928:T33A;ENSP00000393271:T33A ENSP00000216064:T33A T - 1 0 SUN2 37478483 0.804000 0.28969 1.000000 0.80357 0.123000 0.20343 -0.059000 0.11731 0.745000 0.32763 -0.297000 0.09499 ACC NOVEL SUN2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321057.1 3 27.355989 KEEP 0 0 0 91 2626 TT 1 1 0 - 10 60 316 0 0 20.377255 153 60 5160 316 ENST00000405510.1 0.06135 1 DNAL4 10126 __UNKNOWN__ __UNKNOWN__ 22 39175267 39175267 __UNKNOWN__ 3'UTR SNP G G A rs14040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39175267G>A ENST00000216068.4 - 0 749 SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_5'UTR NM_005740.2 NP_005731.1 O96015 DNAL4_HUMAN dynein, axonemal, light chain 4 NA NA microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886) motor activity (GO:0003774) lung(1)|skin(1) 2 Melanoma(58;0.04) CGAGGGAGACGGTTGAGAGCC 0.587 NA G||| 3804 0.759585 0.5408 0.8617 5008 , , NA 16589 0.8938 NA 0.7734 False NA ,,, NA NA NA 2504 0.8303 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AL035366 CCDS13979.1 22q13.1 2008-06-10 2006-09-04 ENSG00000100246 ENSG00000100246 10126 Axonemal dyneins 2955 protein-coding gene gene with protein product 610565 dynein, axonemal, light polypeptide 4, dynein, axonemal, light 4 NA 10591208 Standard NM_005740 NM_005740 NA Approved dJ327J16, PIG27 uc003awj.3 O96015 OTTHUMG00000151025 ENST00000216068.4:c.*187C>T chr22.hg19:g.39175267G>A NA Q6FGB2|Q6FGD0 hg19 CCDS13979.1 0.02 7.207896 GACxGTT COVERED NOVEL DNAL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321032.1 4 17.155053 KEEP 0 0 0 57 1979 GG 1 1 0 - 10 60 361 0 0 23.757553 189 60 6576 317 ENST00000216068.4 0.050251 1 APOBEC3A 200315 __UNKNOWN__ __UNKNOWN__ 22 39358780 39358780 __UNKNOWN__ 3'UTR SNP G G A rs7286317 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39358780G>A ENST00000402255.1 + 0 1070 APOBEC3A_ENST00000249116.2_3'UTR P31941 ABC3A_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A NA NA cellular response to xenobiotic stimulus (GO:0071466)|clearance of foreign intracellular DNA by conversion of DNA cytidine to uridine (GO:0044356)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071) cytoplasm (GO:0005737)|nucleus (GO:0005634) cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|zinc ion binding (GO:0008270) large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 Melanoma(58;0.04) tggctaacacggtgaaaccct 0.592 NA G||| 293 0.0585064 0.0008 0.0346 5008 , , NA 13521 0.1349 NA 0.0189 False NA ,,, NA NA NA 2504 0.1155 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U03891 CCDS13981.1 22q13.1-q13.2 2014-01-28 ENSG00000128383 ENSG00000128383 200315 Apolipoprotein B mRNA editing enzymes 17343 protein-coding gene gene with protein product phorbolin I 607109 NA 11863358, 10469298 Standard NM_145699 NM_145699 NA Approved ARP3, PHRBN P31941 OTTHUMG00000151004 ENST00000402255.1:c.*266G>A chr22.hg19:g.39358780G>A NA A0AVM1|Q12807|Q5JZ93|Q9UH18 hg19 CCDS13981.1 0.02 6.339546 CACxGTG COVERED NOVEL APOBEC3A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320915.2 3 6.317152 KEEP 2 0 0 21 674 GG 0.999863 0.999863 0 + 6 51 219 0 0 13.844668 143 60 5121 176 ENST00000402255.1 0.040268 1 APOBEC3C 27350 __UNKNOWN__ __UNKNOWN__ 22 39414766 39414766 __UNKNOWN__ 3'UTR SNP C C T rs1139721 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39414766C>T ENST00000361441.4 + 0 1227 APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C NA NA cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032) cytoplasm (GO:0005737)|nucleus (GO:0005634) hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) gtgggagaatcgcgtgagccc 0.478 NA c||| 1845 0.368411 0.1876 0.4971 5008 , , NA 14975 0.5169 NA 0.328 False NA ,,, NA NA NA 2504 0.41 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF165520 CCDS13983.1 22q13.1-q13.2 2014-01-28 ENSG00000244509 ENSG00000244509 27350 Apolipoprotein B mRNA editing enzymes 17353 protein-coding gene gene with protein product 607750 NA 11863358 Standard NM_014508 NM_014508 NA Approved APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5 uc003awr.3 Q9NRW3 OTTHUMG00000151087 ENST00000361441.4:c.*374C>T chr22.hg19:g.39414766C>T NA B2R884|Q5JZ92|Q7Z2N7|Q96F12 hg19 CCDS13983.1 0.02 4.223391 AATxGCG COVERED NOVEL APOBEC3C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321241.2 8 4.784211 KEEP 0 2 63 38 1262 CC 1 0.999999 0 + 7 60 259 0 0 17.656033 113 60 3583 170 ENST00000361441.4 0.058333 0.999999 APOBEC3F 200316 __UNKNOWN__ __UNKNOWN__ 22 39441197 39441197 __UNKNOWN__ Silent SNP G G A rs200983508 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39441197G>A ENST00000308521.5 + 3 780 c.423G>A c.(421-423)ggG>ggA p.G141G APOBEC3G_ENST00000452957.2_Intron|APOBEC3F_ENST00000491387.1_3'UTR NM_145298.5 NP_660341.2 Q8IUX4 ABC3F_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 141 NA base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230) apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529) cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) p.G141G(2) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) GTCAGGCAGGGGCCCGCGTGA 0.592 NA NA NA NA NA NA NA NA NA NA NA 2 Substitution - coding silent(2) lung(1)|endometrium(1) 47 49 48 NA NA 22 NA 39441197 2203 4300 6503 SO:0001819 synonymous_variant BC038808 CCDS33648.1, CCDS33649.1 22q13.1-q13.2 2008-05-15 ENSG00000128394 ENSG00000128394 200316 Apolipoprotein B mRNA editing enzymes 17356 protein-coding gene gene with protein product 608993 NA 11863358, 17121840 Standard NM_145298 NM_145298 NA Approved ARP8, BK150C2.4.MRNA, KA6 uc003aww.3 Q8IUX4 OTTHUMG00000151080 ENST00000308521.5:c.423G>A chr22.hg19:g.39441197G>A NA B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5 hg19 CCDS33648.1 0.02 7.796993 AGGxGCC COVERED NOVEL APOBEC3F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321216.1 2 10.334718 KEEP 3 3 93 67 2342 GG 1 1 0 + 9 21 309 0 0 18.46359 236 60 8755 398 ENST00000308521.5 0.036735 1 APOBEC3F 200316 __UNKNOWN__ __UNKNOWN__ 22 39449014 39449014 __UNKNOWN__ 3'UTR SNP C C T rs5757454 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39449014C>T ENST00000308521.5 + 0 1793 APOBEC3G_ENST00000452957.2_Intron NM_145298.5 NP_660341.2 Q8IUX4 ABC3F_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F NA NA base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230) apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529) cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2) 16 Melanoma(58;0.04) ttttttgagacggaatttcgc 0.507 NA C||| 853 0.170327 0.0461 0.2032 5008 , , NA 13932 0.3998 NA 0.0646 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC038808 CCDS33648.1, CCDS33649.1 22q13.1-q13.2 2008-05-15 ENSG00000128394 ENSG00000128394 200316 Apolipoprotein B mRNA editing enzymes 17356 protein-coding gene gene with protein product 608993 NA 11863358, 17121840 Standard NM_145298 NM_145298 NA Approved ARP8, BK150C2.4.MRNA, KA6 uc003aww.3 Q8IUX4 OTTHUMG00000151080 ENST00000308521.5:c.*314C>T chr22.hg19:g.39449014C>T NA B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5 hg19 CCDS33648.1 0.02 10.341136 AGAxGGA COVERED NOVEL APOBEC3F-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321216.1 7 5.284882 KEEP 0 5 152 71 2280 CC 1 1 0 + 12 60 442 0 0 28.755426 251 60 8076 389 ENST00000308521.5 0.045627 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 39783932 39783932 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:39783932A>G NA NA SYNGR1 (2339 upstream) : TAB1 (11813 downstream) NA NA NA taaaaatacaaaaattagccg 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.39783932A>G NA hg19 0.02 -0.02632 ACAxAAA UNCOVERED NOVEL 0 1 2.407395 KEEP 3 0 0 8 257 AA 0 0 0 2 41 76 0 0 7.724857 1 60 39 14 0.666667 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 41105561 41105561 __UNKNOWN__ IGR SNP G G A rs75190628 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:41105561G>A NA NA MCHR1 (26743 upstream) : SLC25A17 (60072 downstream) NA NA NA gggcctggtggcaggtgcctg 0.567 NA G||| 814 0.16254 0.1672 0.0807 5008 , , NA 14527 0.1964 NA 0.1372 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.41105561G>A NA hg19 0.02 -0.017547 GTGxCAG UNCOVERED NOVEL 0 1 2.708981 KEEP 0 0 0 9 331 GG 0.99254 0 0 2 60 78 0 0 8.754133 0 0 0 15 1 0 XPNPEP3 63929 __UNKNOWN__ __UNKNOWN__ 22 41253163 41253163 __UNKNOWN__ 5'UTR SNP C C T rs149610579 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:41253163C>T ENST00000357137.4 + 0 62 XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_5'UTR|XPNPEP3_ENST00000414396.1_5'UTR NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative NA NA glomerular filtration (GO:0003094)|protein processing (GO:0016485) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 TCTTTCTCTTCCCGACGCGTG 0.662 NA C||| 15 0.00299521 0.0 0.0014 5008 , , NA 15021 0.0139 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Ovarian(145;306 1841 7037 21878 30110) NA 0 C , 0,4406 0,0,2203 47 39 42 , 5.3 0.1 22 dbSNP_134 42 1,8599 1.2+/-3.3 0,1,4299 no utr-5,utr-5 XPNPEP3 NM_001204827.1,NM_022098.3 , 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 , , 41253163 1,13005 2203 4300 6503 SO:0001623 5_prime_UTR_variant CCDS14007.1, CCDS74869.1 22q13.2 2010-07-20 ENSG00000196236 ENSG00000196236 63929 28052 protein-coding gene gene with protein product 613553 NA 15708373, 20179356 Standard NM_022098 NM_022098 NA Approved APP3, NPHPL1 uc003azh.3 Q9NQH7 OTTHUMG00000151312 ENST00000357137.4:c.-23C>T chr22.hg19:g.41253163C>T NA B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0 hg19 CCDS14007.1 0.02 19.193315 CTTxCCG COVERED NOVEL XPNPEP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322201.2 1 70.089298 KEEP 0 2 42 248 8584 CC 1 1 0 + 17 60 615 0 0 37.561662 473 60 17585 961 ENST00000357137.4 0.034694 1 XPNPEP3 63929 __UNKNOWN__ __UNKNOWN__ 22 41323917 41323917 __UNKNOWN__ 3'UTR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:41323917C>T ENST00000357137.4 + 0 3086 XPNPEP3_ENST00000544094.1_Intron NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative NA NA glomerular filtration (GO:0003094)|protein processing (GO:0016485) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 agaaaGATTTCTTTCGCAGAT 0.453 NA NA NA NA NA NA NA NA NA NA Ovarian(145;306 1841 7037 21878 30110) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14007.1, CCDS74869.1 22q13.2 2010-07-20 ENSG00000196236 ENSG00000196236 63929 28052 protein-coding gene gene with protein product 613553 NA 15708373, 20179356 Standard NM_022098 NM_022098 NA Approved APP3, NPHPL1 uc003azh.3 Q9NQH7 OTTHUMG00000151312 ENST00000357137.4:c.*1478C>T chr22.hg19:g.41323917C>T NA B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0 hg19 CCDS14007.1 0.02 1.686664 TTTxTTT COVERED NOVEL XPNPEP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322201.2 6 5.558374 KEEP 0 2 17 25 874 CC 0.999988 0.996712 0 + 11 60 221 0 0 14.41526 57 60 1797 120 ENST00000357137.4 0.161765 0.996724 XPNPEP3 63929 __UNKNOWN__ __UNKNOWN__ 22 41325068 41325068 __UNKNOWN__ 3'UTR SNP G G A rs2899341 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:41325068G>A ENST00000357137.4 + 0 4237 XPNPEP3_ENST00000544094.1_Intron NM_022098.3 NP_071381.1 Q9NQH7 XPP3_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 3, putative NA NA glomerular filtration (GO:0003094)|protein processing (GO:0016485) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 17 TAACTCCACAGCTCTGGCTGC 0.483 NA A||| 2978 0.594649 0.6293 0.3012 5008 , , NA 15855 0.9395 NA 0.5179 False NA ,,, NA NA NA 2504 0.4796 NA NA NA Ovarian(145;306 1841 7037 21878 30110) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14007.1, CCDS74869.1 22q13.2 2010-07-20 ENSG00000196236 ENSG00000196236 63929 28052 protein-coding gene gene with protein product 613553 NA 15708373, 20179356 Standard NM_022098 NM_022098 NA Approved APP3, NPHPL1 uc003azh.3 Q9NQH7 OTTHUMG00000151312 ENST00000357137.4:c.*2629G>A chr22.hg19:g.41325068G>A NA B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0 hg19 CCDS14007.1 0.02 3.502047 ACAxCTC COVERED NOVEL XPNPEP3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322201.2 9 5.753731 KEEP 0 1 31 30 1090 GG 0.999997 0.999997 0 + 5 60 171 0 0 10.221302 129 60 4871 190 ENST00000357137.4 0.037313 1 EP300 2033 __UNKNOWN__ __UNKNOWN__ 22 41564718 41564718 __UNKNOWN__ Intron SNP T T C rs187388966 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:41564718T>C ENST00000263253.7 + 25 5244 NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 NA NA apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032) cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CCATCTCAATTGTATAGGTTT 0.438 NA T, N, F, Mis, O MLL, RUNXBP2 colorectal, breast, pancreatic, AML, ALL, DLBCL Rubinstein-Taybi syndrome T||| 5 0.000998403 0.0 0.0014 5008 , , NA 22377 0.004 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Rec yes 22 22q13 2033 300 kd E1A-Binding protein gene L, E 0 138 126 130 NA NA 22 NA 41564718 2203 4300 6503 SO:0001627 intron_variant Familial Cancer Database Broad Thumb-Hallux syndrome U01877 CCDS14010.1 22q13.2 2011-07-01 ENSG00000100393 ENSG00000100393 2033 Chromatin-modifying enzymes / K-acetyltransferases 3373 protein-coding gene gene with protein product histone acetyltransferase p300 602700 NA 7523245 Standard NM_001429 NM_001429 NA Approved p300, KAT3B uc003azl.4 Q09472 OTTHUMG00000150937 ENST00000263253.7:c.4026-7T>C chr22.hg19:g.41564718T>C NA B1AKC2 hg19 CCDS14010.1 0.02 23.426765 AATxGTA COVERED NOVEL EP300-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320600.1 2 25.869961 KEEP 0 0 0 86 2617 TT 1 1 0 + 18 60 640 0 0 37.845036 557 60 20699 778 ENST00000263253.7 0.031304 1 CHADL 150356 __UNKNOWN__ __UNKNOWN__ 22 41636861 41636861 __UNKNOWN__ Intron SNP C C T rs150458981 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:41636861C>T ENST00000216241.9 - 1 61 NM_138481.1 NP_612490.1 Q6NUI6 CHADL_HUMAN chondroadherin-like NA NA proteinaceous extracellular matrix (GO:0005578) breast(1)|endometrium(1)|kidney(1)|skin(1) 4 CTTGCACCATCGGGCCCAAAG 0.687 NA C||| 46 0.0091853 0.0 0.0029 5008 , , NA 15207 0.0417 NA 0.001 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 C 0,1384 0,0,692 72 71 71 -6.9 0 22 dbSNP_134 71 2,3180 0,2,1589 no intron CHADL NM_138481.1 0,2,2281 TT,TC,CC 0.0629,0.0,0.0438 41636861 2,4564 692 1591 2283 SO:0001627 intron_variant BC012882 CCDS46715.1 22q13.2 2008-10-31 ENSG00000100399 ENSG00000100399 150356 25165 protein-coding gene gene with protein product NA 12477932 Standard NM_138481 NM_138481 NA Approved SLRR4B uc003azq.4 Q6NUI6 OTTHUMG00000150936 ENST00000216241.9:c.8+16G>A chr22.hg19:g.41636861C>T NA Q05CY2|Q4G0S0|Q5JY13|Q86XY1|Q96E60 hg19 CCDS46715.1 0.02 13.329139 CATxGGG COVERED 28 0.01282051282051282 0 0.0 0 0.0 27 0.0472027972027972 1 0.0013192612137203166 C 5.602 0.295914 0.10622 0.0 6.29E-4 ENSG00000100399 ENST00000455425 T 0.62232 0.04 3.44 -6.87 0.01671 . . . . . T 0.11067 0.0270 . . . 0.09310 N 1 . . . . . . T 0.26155 -1.0111 6 0.29301 T 0.29 . 6.9562 0.24572 0.0:0.3421:0.2953:0.3626 . . . . Q 13 ENSP00000412359:R13Q ENSP00000412359:R13Q R - 2 0 CHADL 39966807 0.000000 0.05858 0.000000 0.03702 0.017000 0.09413 -1.400000 0.02504 -2.419000 0.00565 -2.792000 0.00115 CGA NOVEL CHADL-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320597.1 1 28.290982 KEEP 0 0 0 94 3263 CC 1 1 0 - 13 60 483 0 0 30.916567 306 60 11157 561 ENST00000216241.9 0.040752 1 SREBF2 6721 __UNKNOWN__ __UNKNOWN__ 22 42276853 42276853 __UNKNOWN__ Missense_Mutation SNP G G A rs377649542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42276853G>A ENST00000361204.4 + 10 2061 c.1895G>A c.(1894-1896)cGc>cAc p.R632H NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 632 NA cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937) E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700) p.R632H(1) NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CAGAAGCTACGCCTGGTGCGC 0.652 NA G||| 3 0.000599042 0.0 0.0014 5008 , , NA 16520 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 1 Substitution - Missense(1) kidney(1) 36 37 36 NA NA 22 NA 42276853 2203 4300 6503 SO:0001583 missense U02031 CCDS14023.1 22q13.2 2013-05-21 ENSG00000198911 ENSG00000198911 6721 Basic helix-loop-helix proteins 11290 protein-coding gene gene with protein product 600481 NA 7903453 Standard NM_004599 NM_004599 NA Approved SREBP2, bHLHd2 uc003bbi.3 Q12772 OTTHUMG00000151261 ENST00000361204.4:c.1895G>A chr22.hg19:g.42276853G>A ENSP00000354476:p.Arg632His NA Q05BD5|Q6GTH7|Q86V36|Q9UH04 hg19 CCDS14023.1 0.02 3.869116 TACxCCT COVERED . . . . . . . . . . G 17.11 3.305992 0.60305 . . ENSG00000198911 ENST00000361204;ENST00000457567 T 0.07688 3.17 4.95 4.95 0.65309 . 0.297614 0.37623 N 0.002011 T 0.03608 0.0103 N 0.03608 -0.345 0.34191 D 0.672 D 0.58620 0.983 B 0.35312 0.2 T 0.43491 -0.9388 10 0.42905 T 0.14 -20.6961 14.8681 0.70434 0.0:0.1547:0.8453:0.0 . 632 Q12772 SRBP2_HUMAN H 632 ENSP00000354476:R632H ENSP00000354476:R632H R + 2 0 SREBF2 40606799 1.000000 0.71417 1.000000 0.80357 0.980000 0.70556 4.561000 0.60809 2.292000 0.77174 0.478000 0.44815 CGC NOVEL SREBF2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321956.1 2 20.161637 KEEP 0 0 0 67 2230 GG 1 1 0 + 9 60 287 0 0 18.273458 140 60 4898 286 ENST00000361204.4 0.060403 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 42443253 42443253 __UNKNOWN__ IGR SNP T T A rs374101233 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42443253T>A NA NA WBP2NL (14599 upstream) : NAGA (11104 downstream) NA NA NA TAACTGAAAATAAAGATTTAT 0.318 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.42443253T>A NA hg19 0.02 0.960857 AAAxAAA COVERED NOVEL 0 0 2.405291 KEEP 0 0 0 8 227 TT 0.99257 0.99249 0 7 60 160 0 0 8.598428 87 60 2970 107 0.074468 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 42546734 42546734 __UNKNOWN__ IGR SNP T T C rs369672503 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42546734T>C NA NA CYP2D7P1 (6158 upstream) : TCF20 (9284 downstream) NA NA NA GTGAGGAGGGTGCCAGGCCTA 0.627 NA t||| 37 0.00738818 0.0023 0.0058 5008 , , NA 20185 0.002 NA 0.005 False NA ,,, NA NA NA 2504 0.0235 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.42546734T>C NA hg19 0.02 4.578771 GGGxGCC COVERED NOVEL 0 0 3.305406 KEEP 5 0 0 11 294 TT 0.993072 0.993072 0 10 40 335 0 0 23.175856 115 60 3762 155 0.08 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 42546802 42546802 __UNKNOWN__ IGR SNP C C T rs201242546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42546802C>T NA NA CYP2D7P1 (6226 upstream) : TCF20 (9216 downstream) NA NA NA TGGGTCACACCCAGGGGGACG 0.627 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.42546802C>T NA hg19 0.02 8.929671 CACxCAG COVERED NOVEL 0 1 5.551827 KEEP 5 1 33 30 1046 CC 0.999997 0.999997 0 12 45 453 0 0 30.829224 207 60 7638 320 0.054795 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 42546811 42546811 __UNKNOWN__ IGR SNP C C T rs202157864 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42546811C>T NA NA CYP2D7P1 (6235 upstream) : TCF20 (9207 downstream) NA NA NA CCCAGGGGGACGATGTCCCCA 0.612 NA c||| 9 0.00179712 0.0 0.0014 5008 , , NA 22663 0.002 NA 0.002 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.42546811C>T NA hg19 0.02 8.712604 GGAxGAT COVERED NOVEL 0 1 5.953933 KEEP 5 1 32 31 1075 CC 0.999997 0.999997 0 12 45 444 0 0 29.88225 209 60 7289 324 0.054299 1 RRP7A 27341 __UNKNOWN__ __UNKNOWN__ 22 42906861 42906861 __UNKNOWN__ 3'UTR SNP T T A rs2281103 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42906861T>A ENST00000323013.6 - 0 2913 SERHL_ENST00000359906.2_RNA NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) NA NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 CACCAGGATCTATCAGGCCTC 0.547 NA T||| 1488 0.297125 0.3109 0.1052 5008 , , NA 21515 0.7331 NA 0.0567 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC035992 CCDS14036.1 22q13.2 2008-08-08 ENSG00000189306 ENSG00000189306 27341 24286 protein-coding gene gene with protein product NA 10810093, 12087473 Standard NM_015703 NM_015703 NA Approved CGI-96 uc003bcq.3 Q9Y3A4 OTTHUMG00000150891 ENST00000323013.6:c.*2055A>T chr22.hg19:g.42906861T>A NA A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5 hg19 CCDS14036.1 0.02 6.533622 ATCxATC COVERED NOVEL RRP7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320451.1 0 16.547754 KEEP 0 0 0 55 1702 TT 1 1 0 - 7 60 260 0 0 16.801041 156 60 5640 256 ENST00000323013.6 0.042945 1 RRP7A 27341 __UNKNOWN__ __UNKNOWN__ 22 42908976 42908976 __UNKNOWN__ Silent SNP G G A rs145348367 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42908976G>A ENST00000323013.6 - 7 798 c.783C>T c.(781-783)ttC>ttT p.F261F NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 261 NA nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) p.F261F(1) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 TGTCCTCCTCGAACTTCTTGC 0.662 NA NA NA NA NA NA NA NA NA NA NA 1 Substitution - coding silent(1) skin(1) 47 39 42 NA NA 22 NA 42908976 2203 4299 6502 SO:0001819 synonymous_variant BC035992 CCDS14036.1 22q13.2 2008-08-08 ENSG00000189306 ENSG00000189306 27341 24286 protein-coding gene gene with protein product NA 10810093, 12087473 Standard NM_015703 NM_015703 NA Approved CGI-96 uc003bcq.3 Q9Y3A4 OTTHUMG00000150891 ENST00000323013.6:c.783C>T chr22.hg19:g.42908976G>A NA A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5 hg19 CCDS14036.1 0.02 6.655672 CTCxAAC COVERED NOVEL RRP7A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320451.1 2 20.594754 KEEP 2 4 127 113 3813 GG 1 1 0 - 7 49 251 0 0 15.74138 165 60 5991 363 ENST00000323013.6 0.040698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 42933776 42933776 __UNKNOWN__ IGR SNP C C T rs386821545|rs5996189 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42933776C>T NA NA RRP7A (17968 upstream) : Z93241.1 (14417 downstream) NA NA NA gatgaaaccccgtctctacta 0.527 NA c||| 681 0.135982 0.2398 0.1988 5008 , , NA 21845 0.0198 NA 0.1551 False NA ,,, NA NA NA 2504 0.0511 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.42933776C>T NA hg19 0.02 -0.02632 CCCxGTC UNCOVERED NOVEL 0 3 2.407786 KEEP 0 0 0 8 276 CC 0.99257 0 0 2 49 74 0 0 7.524882 1 60 35 12 0.666667 0 RRP7B 91695 __UNKNOWN__ __UNKNOWN__ 22 42970403 42970403 __UNKNOWN__ RNA SNP T T C rs60999122 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:42970403T>C ENST00000357802.2 - 0 923 Q9NSQ0 RRP7B_HUMAN ribosomal RNA processing 7 homolog B (S. cerevisiae) NA NA NA TTTTGAGGCTTTTTTGTTGCC 0.522 NA .||| 1224 0.244409 0.2458 0.121 5008 , , NA 22681 0.5635 NA 0.0676 False NA ,,, NA NA NA 2504 0.183 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA 22q13.2 2011-05-25 ENSG00000182841 91695 30454 pseudogene pseudogene NA Standard NM_170698 NR_002184 NA Approved dJ222E13.2 uc003bcs.3 Q9NSQ0 ENST00000357802.2: chr22.hg19:g.42970403T>C NA hg19 0.02 16.244665 GCTxTTT COVERED NOVEL RRP7B-001 KNOWN basic|exp_conf processed_transcript NA pseudogene OTTHUMT00000320446.1 0 27.681068 KEEP 0 0 0 92 2883 TT 1 1 0 - 13 60 501 0 1 31.647762 371 60 13417 610 ENST00000357802.2 0.033854 1 CYB5R3 1727 __UNKNOWN__ __UNKNOWN__ 22 43015492 43015492 __UNKNOWN__ 3'UTR SNP G G T rs137123 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43015492G>T ENST00000352397.5 - 0 1445 CYB5R3_ENST00000396303.3_3'UTR|CYB5R3_ENST00000361740.4_3'UTR|CYB5R3_ENST00000407623.3_3'UTR|CYB5R3_ENST00000407332.1_3'UTR NM_000398.6 NP_000389.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 NA NA blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287) kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Flavin adenine dinucleotide(DB03147) AGTGTGTGTGGGGGGTGGACG 0.637 NA T||| 2325 0.464257 0.7905 0.2219 5008 , , NA 15612 0.6815 NA 0.164 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M16461 CCDS14040.1, CCDS33658.1, CCDS54535.1 22q13.2 2012-10-02 2005-07-13 ENSG00000100243 ENSG00000100243 1727 1.6.2.2 2873 protein-coding gene gene with protein product 613213 diaphorase (NADH) (cytochrome b-5 reductase) DIA1 NA 2479590, 3268037 Standard NM_001129819 NA Approved uc011aps.2 P00387 OTTHUMG00000150745 ENST00000352397.5:c.*287C>A chr22.hg19:g.43015492G>T NA B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56 hg19 CCDS33658.1 0.02 10.620955 GTGxGGG COVERED NOVEL CYB5R3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320439.1 2 22.506466 KEEP 0 1 26 84 2950 GG 1 1 0 - 10 60 365 0 0 23.027264 241 60 8827 420 ENST00000352397.5 0.039841 1 CYB5R3 1727 __UNKNOWN__ __UNKNOWN__ 22 43023527 43023527 __UNKNOWN__ Intron SNP G G A rs137136 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43023527G>A ENST00000352397.5 - 6 800 CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000407332.1_Intron NM_000398.6 NP_000389.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 NA NA blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287) kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Flavin adenine dinucleotide(DB03147) TAGCTCCCAGGCACTCAGAAC 0.687 NA G||| 1161 0.231829 0.1188 0.1124 5008 , , NA 14221 0.6647 NA 0.0666 False NA ,,, NA NA NA 2504 0.1933 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M16461 CCDS14040.1, CCDS33658.1, CCDS54535.1 22q13.2 2012-10-02 2005-07-13 ENSG00000100243 ENSG00000100243 1727 1.6.2.2 2873 protein-coding gene gene with protein product 613213 diaphorase (NADH) (cytochrome b-5 reductase) DIA1 NA 2479590, 3268037 Standard NM_001129819 NA Approved uc011aps.2 P00387 OTTHUMG00000150745 ENST00000352397.5:c.547+83C>T chr22.hg19:g.43023527G>A NA B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56 hg19 CCDS33658.1 0.02 2.099975 CAGxCAC COVERED NOVEL CYB5R3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320439.1 0 7.799055 KEEP 0 0 0 26 884 GG 0.999957 0.995041 0 - 4 60 147 0 0 10.029985 63 60 2245 97 ENST00000352397.5 0.059701 0.995084 CYB5R3 1727 __UNKNOWN__ __UNKNOWN__ 22 43023535 43023535 __UNKNOWN__ Intron SNP A A G rs137137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43023535A>G ENST00000352397.5 - 6 800 CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000407332.1_Intron NM_000398.6 NP_000389.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 NA NA blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287) kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Flavin adenine dinucleotide(DB03147) AGGCACTCAGAACCTGCGCCT 0.687 NA A||| 1175 0.234625 0.1188 0.1138 5008 , , NA 14101 0.6647 NA 0.0716 False NA ,,, NA NA NA 2504 0.2014 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant M16461 CCDS14040.1, CCDS33658.1, CCDS54535.1 22q13.2 2012-10-02 2005-07-13 ENSG00000100243 ENSG00000100243 1727 1.6.2.2 2873 protein-coding gene gene with protein product 613213 diaphorase (NADH) (cytochrome b-5 reductase) DIA1 NA 2479590, 3268037 Standard NM_001129819 NA Approved uc011aps.2 P00387 OTTHUMG00000150745 ENST00000352397.5:c.547+75T>C chr22.hg19:g.43023535A>G NA B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56 hg19 CCDS33658.1 0.02 1.865364 CAGxACC COVERED NOVEL CYB5R3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320439.1 0 8.727148 KEEP 0 0 0 29 937 AA 0.999997 0.99716 0 - 4 60 145 0 0 9.726488 67 60 2399 105 ENST00000352397.5 0.056338 0.997163 CYB5R3 1727 __UNKNOWN__ __UNKNOWN__ 22 43032870 43032870 __UNKNOWN__ Intron SNP G G T rs2285141 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43032870G>T ENST00000352397.5 - 2 274 CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron|CYB5R3_ENST00000407332.1_5'UTR NM_000398.6 NP_000389.1 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 NA NA blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287) kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Flavin adenine dinucleotide(DB03147) GACAGGACCCGCGGGGTCAGT 0.617 NA G||| 1166 0.232827 0.0915 0.1254 5008 , , NA 17958 0.5933 NA 0.1113 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 G ,,,, 399,4007 194.7+/-219.5 15,369,1819 50 43 46 ,,,, -0.1 0 22 dbSNP_100 46 823,7777 186.2+/-233.7 39,745,3516 no intron,intron,intron,intron,intron CYB5R3 NM_000398.6,NM_001129819.2,NM_001171660.1,NM_001171661.1,NM_007326.4 ,,,, 54,1114,5335 TT,TG,GG 9.5698,9.0558,9.3957 ,,,, ,,,, 43032870 1222,11784 2203 4300 6503 SO:0001627 intron_variant M16461 CCDS14040.1, CCDS33658.1, CCDS54535.1 22q13.2 2012-10-02 2005-07-13 ENSG00000100243 ENSG00000100243 1727 1.6.2.2 2873 protein-coding gene gene with protein product 613213 diaphorase (NADH) (cytochrome b-5 reductase) DIA1 NA 2479590, 3268037 Standard NM_001129819 NA Approved uc011aps.2 P00387 OTTHUMG00000150745 ENST00000352397.5:c.22-18C>A chr22.hg19:g.43032870G>T NA B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56 hg19 CCDS33658.1 0.02 16.510731 CCCxCGG COVERED NOVEL CYB5R3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320439.1 7 44.077834 KEEP 0 1 30 157 5583 GG 1 1 0 - 13 60 466 0 0 27.328933 431 70 15702 792 ENST00000352397.5 0.029279 1 ATP5L2 267020 __UNKNOWN__ __UNKNOWN__ 22 43036245 43036245 __UNKNOWN__ Silent SNP G G A rs6519327 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43036245G>A ENST00000505920.1 - 1 362 c.36C>T c.(34-36)acC>acT p.T12T CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron NM_001165877.1 NP_001159349.1 Q7Z4Y8 AT5L2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 12 NA ATP synthesis coupled proton transport (GO:0015986) mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276) hydrogen ion transmembrane transporter activity (GO:0015078) endometrium(1)|kidney(1) 2 CCAGTGCTGGGGTCTTCTCCA 0.557 NA G||| 1366 0.272764 0.2375 0.1297 5008 , , NA 12716 0.5982 NA 0.1123 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 G ,,,,, 296,1088 31,234,427 77 64 68 ,,36,,, -1.6 0 22 dbSNP_116 68 335,2847 19,297,1275 no intron,intron,coding-synonymous,intron,intron,intron CYB5R3,ATP5L2 NM_000398.6,NM_001129819.2,NM_001165877.1,NM_001171660.1,NM_001171661.1,NM_007326.4 ,,,,, 50,531,1702 AA,AG,GG 10.528,21.3873,13.8195 ,,,,, ,,12/101,,, 43036245 631,3935 692 1591 2283 SO:0001819 synonymous_variant AF092923 CCDS54534.1 22q13.2 2012-10-12 2010-06-11 ENSG00000249222 ENSG00000249222 267020 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 13213 protein-coding gene gene with protein product ATP synthase, H+ transporting, mitochondrial F1F0, subunit g, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 ATP5K2 NA Standard NM_001165877 NM_001165877 NA Approved dJ222E13.5 uc003bda.1 Q7Z4Y8 OTTHUMG00000150890 ENST00000505920.1:c.36C>T chr22.hg19:g.43036245G>A NA hg19 CCDS54534.1 0.02 11.286951 TGGxGTC COVERED NOVEL ATP5L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320450.2 6 35.185946 KEEP 0 1 31 128 4455 GG 1 1 0 - 11 60 403 0 0 25.237463 280 60 10373 516 ENST00000505920.1 0.037801 1 ATP5L2 267020 __UNKNOWN__ __UNKNOWN__ 22 43036470 43036470 __UNKNOWN__ 5'UTR SNP C C T rs6519328 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43036470C>T ENST00000505920.1 - 0 137 CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000402438.1_Intron NM_001165877.1 NP_001159349.1 Q7Z4Y8 AT5L2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 NA NA ATP synthesis coupled proton transport (GO:0015986) mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276) hydrogen ion transmembrane transporter activity (GO:0015078) endometrium(1)|kidney(1) 2 ctgtgacctccgcctcccggg 0.433 NA C||| 1368 0.273163 0.2375 0.1311 5008 , , NA 14011 0.5982 NA 0.1123 False NA ,,, NA NA NA 2504 0.2526 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AF092923 CCDS54534.1 22q13.2 2012-10-12 2010-06-11 ENSG00000249222 ENSG00000249222 267020 Mitochondrial respiratory chain complex / Complex V, ATPases / F-type 13213 protein-coding gene gene with protein product ATP synthase, H+ transporting, mitochondrial F1F0, subunit g, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g, isoform 2, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 pseudogene, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G2 ATP5K2 NA Standard NM_001165877 NM_001165877 NA Approved dJ222E13.5 uc003bda.1 Q7Z4Y8 OTTHUMG00000150890 ENST00000505920.1:c.-190G>A chr22.hg19:g.43036470C>T NA hg19 CCDS54534.1 0.02 -0.08772 CTCxGCC UNCOVERED NOVEL ATP5L2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000320450.2 0 2.407317 KEEP 0 0 0 8 260 CC 0.99257 0.09898 0 - 2 60 76 0 0 6.381294 8 60 259 21 ENST00000505920.1 0.2 0.099721 A4GALT 53947 __UNKNOWN__ __UNKNOWN__ 22 43089530 43089530 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43089530G>A ENST00000401850.1 - 2 917 c.428C>T c.(427-429)cCg>cTg p.P143L A4GALT_ENST00000249005.2_Missense_Mutation_p.P143L|A4GALT_ENST00000381278.3_Missense_Mutation_p.P143L Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 143 NA globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486) extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020) galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643) NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 CAGGTCCAGCGGGAGCATCTG 0.677 NA NA NA NA NA NA NA NA NA NA NA 0 46 54 51 NA NA 22 NA 43089530 2203 4300 6503 SO:0001583 missense CCDS14041.1 22q13.2 2014-07-18 2008-07-31 ENSG00000128274 ENSG00000128274 53947 2.4.1.228 18149 protein-coding gene gene with protein product Gb3 synthase, CD77 synthase, globotriaosylceramide synthase, lactosylceramide 4-alpha-galactosyltransferase 607922 alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group) NA 10854428 Standard NM_017436 XM_005261643 NA Approved A14GALT, Gb3S, P(k) uc003bdb.3 Q9NPC4 OTTHUMG00000150744 ENST00000401850.1:c.428C>T chr22.hg19:g.43089530G>A ENSP00000384794:p.Pro143Leu NA B2R7C4|Q9P1X5 hg19 CCDS14041.1 0.02 12.835692 AGCxGGA COVERED . . . . . . . . . . G 20.5 4.004215 0.74932 . . ENSG00000128274 ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654 T;T;T 0.80738 -1.41;-1.41;-1.41 5.29 3.11 0.35812 Glycosyltransferase, DXD sugar-binding motif (1); 0.109676 0.39083 N 0.001461 T 0.82263 0.4999 L 0.51914 1.62 0.41831 D 0.990077 D 0.63046 0.992 P 0.55222 0.771 T 0.79176 -0.1911 10 0.26408 T 0.33 -29.7492 15.0403 0.71785 0.0:0.2707:0.7293:0.0 . 143 Q9NPC4 A4GAT_HUMAN L 143 ENSP00000384794:P143L;ENSP00000249005:P143L;ENSP00000370678:P143L ENSP00000249005:P143L P - 2 0 A4GALT 41419474 0.999000 0.42202 0.740000 0.30986 0.981000 0.71138 4.207000 0.58480 0.566000 0.29273 0.561000 0.74099 CCG NOVEL A4GALT-004 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319917.1 2 42.106457 KEEP 0 0 0 140 4727 GG 1 1 0 - 10 60 365 0 0 22.141285 297 60 10308 571 ENST00000401850.1 0.032573 1 MCAT 27349 __UNKNOWN__ __UNKNOWN__ 22 43529314 43529314 __UNKNOWN__ Missense_Mutation SNP G G C rs13815 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43529314G>C ENST00000290429.6 - 4 953 c.908C>G c.(907-909)gCg>gGg p.A303G MCAT_ENST00000327555.5_3'UTR NM_173467.4 NP_775738.3 Q8IVS2 FABD_HUMAN malonyl CoA:ACP acyltransferase (mitochondrial) 303 NA A -> G (in dbSNP:rs13815). {ECO:0000269|PubMed:15489334}. fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152) mitochondrion (GO:0005739) [acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) GTATCTATGCGCGTGGACGTT 0.577 NA C||| 2452 0.489617 0.2216 0.5432 5008 , , NA 18221 0.6369 NA 0.663 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 C ,GLY/ALA 1280,3126 701.0+/-406.7 196,888,1119 97 92 94 ,908 5.5 0.1 22 dbSNP_52 94 5845,2755 437.5+/-358.6 1998,1849,453 yes utr-3,missense MCAT NM_014507.3,NM_173467.4 ,60 2194,2737,1572 CC,CG,GG 32.0349,29.0513,45.2176 ,benign ,303/391 43529314 7125,5881 2203 4300 6503 SO:0001583 missense AL359401 CCDS14045.1, CCDS33660.1 22q13.2 2010-04-27 ENSG00000100294 ENSG00000100294 27349 2.3.1.39 29622 protein-coding gene gene with protein product 614479 NA 12882974 Standard NM_173467 NM_173467 NA Approved MT, MCT, fabD, FASN2C, NET62 uc003bdl.1 Q8IVS2 OTTHUMG00000150704 ENST00000290429.6:c.908C>G chr22.hg19:g.43529314G>C ENSP00000290429:p.Ala303Gly NA B0QY72|O95510|O95511 hg19 CCDS33660.1 0.02 25.036692 TGCxCGT COVERED 1191 0.5453296703296703 120 0.24390243902439024 211 0.5828729281767956 345 0.6031468531468531 515 0.679419525065963 C 1.352 -0.591281 0.03799 0.290513 0.679651 ENSG00000100294 ENST00000290429 T 0.39056 1.1 5.46 5.46 0.80206 Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1); 0.052506 0.85682 N 0.000000 T 0.00012 0.0000 N 0.01686 -0.76 0.41100 P 0.014334999999999987 B 0.02656 0.0 B 0.01281 0.0 T 0.39742 -0.9599 9 0.05351 T 0.99 -24.9297 16.4628 0.84069 0.0:0.8686:0.1313:0.0 rs13815;rs713813;rs3884877;rs17846328;rs17859359;rs13815 303 Q8IVS2 FABD_HUMAN G 303 ENSP00000290429:A303G ENSP00000290429:A303G A - 2 0 MCAT 41859258 0.766000 0.28496 0.126000 0.21872 0.004000 0.04260 2.987000 0.49378 1.322000 0.45245 -0.120000 0.15030 GCG NOVEL MCAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319677.2 1 18.502465 KEEP 0 4 136 109 3836 GG 1 1 0 - 20 60 726 0 0 43.502788 621 60 22086 920 ENST00000290429.6 0.031201 1 MCAT 27349 __UNKNOWN__ __UNKNOWN__ 22 43529517 43529517 __UNKNOWN__ Intron SNP C C T rs2066910 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43529517C>T ENST00000290429.6 - 4 775 MCAT_ENST00000327555.5_Intron NM_173467.4 NP_775738.3 Q8IVS2 FABD_HUMAN malonyl CoA:ACP acyltransferase (mitochondrial) NA NA fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152) mitochondrion (GO:0005739) [acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740) breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) AGGTTTCAGCCGAGCAATGTC 0.517 NA c||| 2256 0.450479 0.0832 0.5331 5008 , , NA 18095 0.631 NA 0.663 False NA ,,, NA NA NA 2504 0.4836 NA NA NA NA 0 T , 745,3655 69,607,1524 11 13 13 , -1.8 0 22 dbSNP_94 13 5825,2771 2002,1821,475 no intron,intron MCAT NM_014507.3,NM_173467.4 , 2071,2428,1999 TT,TC,CC 32.2359,16.9318,49.446 , , 43529517 6570,6426 2200 4298 6498 SO:0001627 intron_variant AL359401 CCDS14045.1, CCDS33660.1 22q13.2 2010-04-27 ENSG00000100294 ENSG00000100294 27349 2.3.1.39 29622 protein-coding gene gene with protein product 614479 NA 12882974 Standard NM_173467 NM_173467 NA Approved MT, MCT, fabD, FASN2C, NET62 uc003bdl.1 Q8IVS2 OTTHUMG00000150704 ENST00000290429.6:c.730-25G>A chr22.hg19:g.43529517C>T NA B0QY72|O95510|O95511 hg19 CCDS33660.1 0.02 4.106184 AGCxGAG COVERED NOVEL MCAT-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319677.2 3 4.814791 KEEP 0 0 0 16 519 CC 0.997832 0.997831 0 - 6 60 211 0 0 13.579921 116 60 3722 148 ENST00000290429.6 0.04918 0.999999 SCUBE1 80274 __UNKNOWN__ __UNKNOWN__ 22 43594636 43594636 __UNKNOWN__ 3'UTR SNP G G C rs139362457 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:43594636G>C ENST00000360835.4 - 0 8460 NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 NA NA adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260) cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GACACCTTGTGCATCTTTGGT 0.557 NA G||| 46 0.0091853 0.0 0.0 5008 , , NA 20740 0.0446 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14048.1 22q13 2008-07-01 ENSG00000159307 ENSG00000159307 80274 13441 protein-coding gene gene with protein product 611746 NA 11087664 Standard NM_173050 NM_173050 NA Approved uc003bdt.2 Q8IWY4 OTTHUMG00000150679 ENST00000360835.4:c.*5367C>G chr22.hg19:g.43594636G>C NA Q5R336 hg19 CCDS14048.1 0.02 12.291162 TGTxCAT COVERED NOVEL SCUBE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000319582.3 1 18.354202 KEEP 0 0 0 61 2163 GG 1 1 0 - 11 60 376 0 0 22.000998 324 60 11800 477 ENST00000360835.4 0.032836 1 EFCAB6 64800 __UNKNOWN__ __UNKNOWN__ 22 44041004 44041004 __UNKNOWN__ Intron SNP T T C rs5764179 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:44041004T>C ENST00000262726.7 - 18 2237 EFCAB6_ENST00000396231.2_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) calcium ion binding (GO:0005509) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GGAGGTCTTGTGTATCTGTGG 0.433 NA T||| 1410 0.28155 0.0204 0.4741 5008 , , NA 19511 0.5774 NA 0.2336 False NA ,,, NA NA NA 2504 0.2423 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Z82201 CCDS14049.1, CCDS14050.1 22q13.2 2013-01-10 ENSG00000186976 ENSG00000186976 64800 EF-hand domain containing 24204 protein-coding gene gene with protein product NA 11258795, 12612053 Standard NM_022785 NM_022785 NA Approved FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1 uc003bdy.2 Q5THR3 OTTHUMG00000150522 ENST00000262726.7:c.1984-9908A>G chr22.hg19:g.44041004T>C NA A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5 hg19 CCDS14049.1 0.02 13.473014 TTGxGTA COVERED NOVEL EFCAB6-010 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000353176.1 2 24.072302 KEEP 188 0 0 80 2501 TT 0.999997 0.999997 0 - 11 49 383 0 0 22.212442 348 50 12728 745 ENST00000262726.7 0.030641 1 PARVB 29780 __UNKNOWN__ __UNKNOWN__ 22 44489896 44489896 __UNKNOWN__ Splice_Site SNP T T C rs738479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:44489896T>C ENST00000404989.1 + 2 191 c.90T>C c.(88-90)ctT>ctC p.L30L PARVB_ENST00000338758.7_Splice_Site_p.L67L|PARVB_ENST00000477795.1_3'UTR|PARVB_ENST00000406477.3_Splice_Site_p.L100L NM_001243385.1 NP_001230314.1 Q9HBI1 PARVB_HUMAN parvin, beta 67 NA actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) ACACCCAGCTTGGTACGGGGG 0.577 NA C||| 3233 0.645567 0.6014 0.6484 5008 , , NA 16384 0.8462 NA 0.5487 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 C , 2574,1832 533.3+/-373.7 746,1082,375 71 71 71 300,201 -8.6 0.8 22 dbSNP_86 71 5002,3598 520.1+/-379.6 1472,2058,770 yes coding-synonymous-near-splice,coding-synonymous-near-splice PARVB NM_001003828.2,NM_013327.4 , 2218,3140,1145 CC,CT,TT 41.8372,41.5797,41.75 , 100/398,67/365 44489896 7576,5430 2203 4300 6503 SO:0001630 splice_region_variant AF151814 CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1 22q13.2-q13.33 2013-01-24 ENSG00000188677 ENSG00000188677 29780 Parvins 14653 protein-coding gene gene with protein product affixin 608121 NA 10810093, 11171322 Standard NM_001003828 NM_001003828 NA Approved CGI-56 uc003ben.3 Q9HBI1 OTTHUMG00000150665 ENST00000404989.1:c.91+1T>C chr22.hg19:g.44489896T>C NA B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7 hg19 CCDS58808.1 0.02 3.892333 GCTxGGT COVERED NOVEL PARVB-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319519.1 0 5.717635 KEEP 0 0 0 19 601 TT 0.99986 0.99986 0 Silent + 6 60 197 0 0 11.952908 128 60 4655 171 ENST00000404989.1 0.044776 1 PARVB 29780 __UNKNOWN__ __UNKNOWN__ 22 44515783 44515783 __UNKNOWN__ Intron SNP C C T rs529351569 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:44515783C>T ENST00000404989.1 + 4 366 PARVB_ENST00000338758.7_Intron|PARVB_ENST00000406477.3_Intron NM_001243385.1 NP_001230314.1 Q9HBI1 PARVB_HUMAN parvin, beta NA NA actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032) cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) gaagaacgagcgaagagttgc 0.577 NA C||| 1 0.000199681 0.0008 0.0 5008 , , NA 18663 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151814 CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1 22q13.2-q13.33 2013-01-24 ENSG00000188677 ENSG00000188677 29780 Parvins 14653 protein-coding gene gene with protein product affixin 608121 NA 10810093, 11171322 Standard NM_001003828 NM_001003828 NA Approved CGI-56 uc003ben.3 Q9HBI1 OTTHUMG00000150665 ENST00000404989.1:c.265+763C>T chr22.hg19:g.44515783C>T NA B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7 hg19 CCDS58808.1 0.02 15.004323 GAGxGAA COVERED NOVEL PARVB-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000319519.1 3 24.076553 KEEP 0 0 0 80 2794 CC 1 1 0 + 13 60 459 0 0 27.5566 365 60 12760 590 ENST00000404989.1 0.034392 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 44828232 44828232 __UNKNOWN__ IGR SNP G G A rs2040412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:44828232G>A NA NA RP1-32I10.10 (66068 upstream) : CTA-397C4.2 (10974 downstream) NA NA NA ggtggctcacgcctgtaatcc 0.532 NA G||| 1292 0.257987 0.1059 0.317 5008 , , NA 15018 0.4117 NA 0.2952 False NA ,,, NA NA NA 2504 0.2249 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.44828232G>A NA hg19 0.02 -0.052639 CACxCCT UNCOVERED NOVEL 0 1 2.708908 KEEP 0 0 0 9 324 GG 0.99254 0.036491 0 3 60 112 0 0 10.82516 3 60 104 20 0.5 0.036766 ARHGAP8 23779 __UNKNOWN__ __UNKNOWN__ 22 45243771 45243771 __UNKNOWN__ Intron SNP G G A rs2269542 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45243771G>A ENST00000336963.4 + 9 766 ARHGAP8_ENST00000356099.6_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389774.2_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron NM_001198726.1 NP_001185655.1 P85298 RHG08_HUMAN Rho GTPase activating protein 8 NA NA positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) GGGTGATGCCGTGGGCAGGGG 0.577 NA G||| 505 0.100839 0.003 0.0634 5008 , , NA 18465 0.2748 NA 0.0477 False NA ,,, NA NA NA 2504 0.135 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF177331 CCDS14060.2, CCDS33664.1, CCDS56233.1 22q13.3 2010-05-11 ENSG00000241484 ENSG00000241484 23779 Rho GTPase activating proteins 677 protein-coding gene gene with protein product 609405 NA 10591208 Standard NM_017701 NM_001198726 NA Approved FLJ20185, BPGAP1 P85298 OTTHUMG00000030234 ENST00000336963.4:c.671-82G>A chr22.hg19:g.45243771G>A NA A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20 hg19 CCDS56233.1 0.02 6.353667 GCCxTGG COVERED NOVEL ARHGAP8-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000157074.1 0 3.545047 KEEP 0 1 29 22 742 GG 0.999892 0.999892 0 + 11 60 405 0 0 27.381646 184 60 6275 256 ENST00000336963.4 0.05641 1 ARHGAP8 23779 __UNKNOWN__ __UNKNOWN__ 22 45244930 45244930 __UNKNOWN__ Silent SNP C C T rs2269543 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45244930C>T ENST00000336963.4 + 10 963 c.867C>T c.(865-867)ctC>ctT p.L289L ARHGAP8_ENST00000356099.6_Silent_p.L289L|ARHGAP8_ENST00000389773.5_Silent_p.L411L|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.L499L|ARHGAP8_ENST00000389774.2_Silent_p.L320L|ARHGAP8_ENST00000517296.3_Silent_p.L499L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L420L NM_001198726.1 NP_001185655.1 P85298 RHG08_HUMAN Rho GTPase activating protein 8 320 Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}. NA positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) Rho GTPase activator activity (GO:0005100) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) AGCAGATTCTCGGGATCACCT 0.647 NA C||| 1839 0.367212 0.5915 0.2594 5008 , , NA 18232 0.3105 NA 0.2495 False NA ,,, NA NA NA 2504 0.32 NA NA NA NA 0 C ,,, 2352,2054 608.2+/-391.1 619,1114,470 137 134 135 960,867,1233,867 -7.6 0 22 dbSNP_100 135 2331,6269 391.0+/-343.5 304,1723,2273 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous ARHGAP8,PRR5-ARHGAP8 NM_001017526.1,NM_001198726.1,NM_181334.4,NM_181335.2 ,,, 923,2837,2743 TT,TC,CC 27.1047,46.6182,36.0065 ,,, 320/465,289/306,411/556,289/434 45244930 4683,8323 2203 4300 6503 SO:0001819 synonymous_variant AF177331 CCDS14060.2, CCDS33664.1, CCDS56233.1 22q13.3 2010-05-11 ENSG00000241484 ENSG00000241484 23779 Rho GTPase activating proteins 677 protein-coding gene gene with protein product 609405 NA 10591208 Standard NM_017701 NM_001198726 NA Approved FLJ20185, BPGAP1 P85298 OTTHUMG00000030234 ENST00000336963.4:c.867C>T chr22.hg19:g.45244930C>T NA A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20 hg19 CCDS56233.1 0.02 8.685196 TCTxGGG COVERED 734 0.3360805860805861 259 0.5264227642276422 101 0.27900552486187846 189 0.3304195804195804 185 0.24406332453825857 C 2.230 -0.376321 0.05000 0.533818 0.271047 ENSG00000248405 ENST00000515632 . . . 3.82 -7.64 0.01286 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.99999630717 . . . . . . T 0.26849 -1.0091 3 . . . . 9.5126 0.39087 0.0:0.1381:0.5818:0.2802 rs2269543;rs5766098;rs17845265;rs17858094;rs17859480;rs59025261;rs2269543 . . . L 343 . . S + 2 0 PRR5-ARHGAP8 43623594 0.000000 0.05858 0.002000 0.10522 0.505000 0.33919 -2.997000 0.00654 -1.448000 0.01941 -0.244000 0.11960 TCG NOVEL ARHGAP8-003 PUTATIVE basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000157074.1 0 9.363678 KEEP 0 1 28 41 1396 CC 1 1 0 + 15 60 533 0 0 35.967568 230 60 7989 357 ENST00000336963.4 0.061224 1 PHF21B 112885 __UNKNOWN__ __UNKNOWN__ 22 45277909 45277909 __UNKNOWN__ 3'UTR SNP A A G rs762978 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45277909A>G ENST00000313237.5 - 0 2803 PHF21B_ENST00000403565.1_3'UTR|PHF21B_ENST00000396103.3_3'UTR NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B NA NA zinc ion binding (GO:0008270) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) AGAGACTACTAGAAGCAGAAA 0.473 NA A||| 2311 0.461462 0.4629 0.4755 5008 , , NA 17965 0.5149 NA 0.496 False NA ,,, NA NA NA 2504 0.3589 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091480 CCDS14061.1, CCDS56234.1, CCDS63504.1 22q13.31 2013-01-28 ENSG00000056487 ENSG00000056487 112885 Zinc fingers, PHD-type 25161 protein-coding gene gene with protein product PHD finger protein 4 PHF4 NA 12477932 Standard NM_138415 NM_138415 NA Approved BHC80L, FLJ34161 uc011aql.2 Q96EK2 OTTHUMG00000151199 ENST00000313237.5:c.*1057T>C chr22.hg19:g.45277909A>G NA B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0 hg19 CCDS14061.1 0.02 18.75155 ACTxGAA COVERED NOVEL PHF21B-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000321731.2 1 8.059488 KEEP 0 1 38 40 1239 AA 1 1 0 - 16 60 584 0 0 36.72647 400 60 14851 538 ENST00000313237.5 0.038462 1 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45579422 45579422 __UNKNOWN__ Intron SNP A A G rs6006950 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45579422A>G ENST00000347635.4 + 7 1670 NUP50_ENST00000425733.2_Intron|NUP50_ENST00000396096.2_Intron|NUP50_ENST00000407019.2_Intron NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTTTTCAGTTAGCACAAAATC 0.393 NA .||| 2256 0.450479 0.4501 0.5159 5008 , , NA 16885 0.2996 NA 0.5348 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 G , 2050,2356 602.8+/-390.0 477,1096,630 76 77 76 , 1 0 22 dbSNP_114 76 4567,4033 553.4+/-386.3 1251,2065,984 no intron,intron NUP50 NM_007172.3,NM_153645.2 , 1728,3161,1614 GG,GA,AA 46.8953,46.5275,49.1235 , , 45579422 6617,6389 2203 4300 6503 SO:0001627 intron_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.1204+21A>G chr22.hg19:g.45579422A>G NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 2.285578 GTTxGCA COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 1 3.144019 KEEP 0 1 33 22 683 AA 0.999892 0.999111 0 + 4 60 151 0 0 10.116843 76 60 2858 135 ENST00000347635.4 0.05 0.999218 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45580836 45580836 __UNKNOWN__ 3'UTR SNP G G C rs9614613 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45580836G>C ENST00000347635.4 + 0 2173 NUP50_ENST00000425733.2_3'UTR NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CTGCAATCAGGGTATCAATTT 0.423 NA .||| 2107 0.420727 0.3359 0.5072 5008 , , NA 18089 0.3095 NA 0.5338 False NA ,,, NA NA NA 2504 0.4724 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.*300G>C chr22.hg19:g.45580836G>C NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 23.615873 CAGxGTA COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 5 29.901709 KEEP 0 3 93 132 4665 GG 1 1 0 + 17 60 616 0 0 36.453616 559 60 20581 896 ENST00000347635.4 0.029514 1 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45580899 45580899 __UNKNOWN__ 3'UTR SNP G G C rs2673084 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45580899G>C ENST00000347635.4 + 0 2236 NUP50_ENST00000425733.2_3'UTR NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCGCCACCACGAGAGAGGCTT 0.527 NA .||| 4138 0.826278 0.8752 0.7608 5008 , , NA 15688 0.9931 NA 0.7008 False NA ,,, NA NA NA 2504 0.7638 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.*363G>C chr22.hg19:g.45580899G>C NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 23.628464 CACxAGA COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 4 25.111839 KEEP 0 1 24 92 3107 GG 1 1 0 + 18 60 681 0 0 42.930027 489 60 17918 712 ENST00000347635.4 0.035503 1 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45581521 45581521 __UNKNOWN__ 3'UTR SNP C C T rs1811817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45581521C>T ENST00000347635.4 + 0 2858 NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CGTGTGTAAACTTTGCCTTTA 0.373 NA .||| 4143 0.827276 0.8759 0.7622 5008 , , NA 20640 0.994 NA 0.7018 False NA ,,, NA NA NA 2504 0.7648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.*985C>T chr22.hg19:g.45581521C>T NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 20.357198 AAAxTTT COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 4 27.388538 KEEP 0 0 0 91 3299 CC 1 1 0 + 18 60 642 0 0 38.912999 497 60 18886 701 ENST00000347635.4 0.034951 1 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45583606 45583606 __UNKNOWN__ 3'UTR SNP G G T rs1058033 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45583606G>T ENST00000347635.4 + 0 4943 NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TCTTTTCCAAGCAGGCACTCA 0.468 NA .||| 2755 0.55012 0.6278 0.5288 5008 , , NA 17105 0.4375 NA 0.5318 False NA ,,, NA NA NA 2504 0.5951 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.*3070G>T chr22.hg19:g.45583606G>T NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 24.552989 CAAxCAG COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 4 35.817471 KEEP 0 0 0 119 4328 GG 1 1 0 + 24 60 889 0 0 57.33949 536 60 20607 851 ENST00000347635.4 0.042857 1 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45583740 45583740 __UNKNOWN__ 3'UTR SNP G G C rs1058040 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45583740G>C ENST00000347635.4 + 0 5077 NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TGGATAAATTGTTTGCTTTTT 0.328 NA .||| 2059 0.411142 0.3064 0.5043 5008 , , NA 20624 0.3056 NA 0.5298 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.*3204G>C chr22.hg19:g.45583740G>C NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 18.17653 ATTxTTT COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 1 9.70259 KEEP 1 2 71 57 1953 GG 1 1 0 + 21 60 785 0 0 51.977605 415 60 15422 508 ENST00000347635.4 0.048165 1 NUP50 10762 __UNKNOWN__ __UNKNOWN__ 22 45583803 45583803 __UNKNOWN__ 3'UTR SNP A A G rs1058043 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45583803A>G ENST00000347635.4 + 0 5140 NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa NA NA carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032) nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TTGTCAGACAATATAATCTCA 0.289 NA .||| 2082 0.415735 0.3222 0.5058 5008 , , NA 22166 0.3065 NA 0.5298 False NA ,,, NA NA NA 2504 0.4734 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF107840 CCDS14062.1, CCDS14063.1 22q13.3 2007-01-22 2002-08-29 ENSG00000093000 ENSG00000093000 10762 8065 protein-coding gene gene with protein product 604646 nucleoporin 50kD NPAP60L NA 10449902 Standard XM_005261312 NA Approved uc003bfr.3 Q9UKX7 OTTHUMG00000151265 ENST00000347635.4:c.*3267A>G chr22.hg19:g.45583803A>G NA B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5 hg19 CCDS14062.1 0.02 27.192935 ACAxTAT COVERED NOVEL NUP50-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321993.2 5 21.363005 KEEP 1 0 0 71 2275 AA 1 1 0 + 23 54 873 0 0 55.730853 588 60 21273 798 ENST00000347635.4 0.037643 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 45583898 45583898 __UNKNOWN__ IGR SNP A A G rs226515|rs548632223 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45583898A>G NA NA NUP50 (2 upstream) : KIAA0930 (2320 downstream) NA NA NA CAAAATCCCAATGTGTGAGTC 0.383 NA .||| 4132 0.82508 0.8707 0.7637 5008 , , NA 21026 0.994 NA 0.6968 False NA ,,, NA NA NA 2504 0.7648 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.45583898A>G NA hg19 0.02 27.331238 CCAxTGT COVERED NOVEL 0 6 24.042139 KEEP 0 2 75 106 3335 AA 1 1 0 18 60 695 0 0 42.755669 600 60 22290 891 0.029126 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 45583935 45583935 __UNKNOWN__ IGR SNP A A G rs6007500 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45583935A>G NA NA NUP50 (39 upstream) : KIAA0930 (2283 downstream) NA NA NA TGCACTTGGCATTAATACAAG 0.428 NA .||| 2760 0.551118 0.6286 0.5303 5008 , , NA 20160 0.4395 NA 0.5318 False NA ,,, NA NA NA 2504 0.5961 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.45583935A>G NA hg19 0.02 21.136184 GGCxTTA COVERED NOVEL 0 6 12.903085 KEEP 0 2 66 66 2045 AA 1 1 0 15 60 554 0 0 33.079479 503 60 18680 704 0.028958 1 KIAA0930 23313 __UNKNOWN__ __UNKNOWN__ 22 45588248 45588248 __UNKNOWN__ 3'UTR SNP A A G rs7456 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45588248A>G ENST00000336156.5 - 0 6089 NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 NA NA endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CTGGATGTGGAAGAGGGTTAA 0.418 NA A||| 3533 0.705471 0.7345 0.598 5008 , , NA 17549 0.9881 NA 0.5 False NA ,,, NA NA NA 2504 0.6626 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025608 CCDS33665.1, CCDS33666.1 22q13.31 2011-02-23 2011-02-23 2011-02-23 ENSG00000100364 ENSG00000100364 23313 1314 protein-coding gene gene with protein product chromosome 22 open reading frame 9 C22orf9 NA 10231032 Standard NM_001009880 NM_015264 NA Approved bK268H5.C22.1 uc003bfw.1 Q6ICG6 OTTHUMG00000151263 ENST00000336156.5:c.*4809T>C chr22.hg19:g.45588248A>G NA B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2 hg19 CCDS33665.1 0.02 7.223641 TGGxAGA COVERED NOVEL KIAA0930-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321975.2 3 14.777496 KEEP 0 1 37 62 1931 AA 1 1 0 - 8 60 297 0 0 19.645021 156 60 5657 284 ENST00000336156.5 0.04878 1 KIAA0930 23313 __UNKNOWN__ __UNKNOWN__ 22 45588604 45588604 __UNKNOWN__ 3'UTR SNP C C T rs2350623 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45588604C>T ENST00000336156.5 - 0 5733 NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 NA NA endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GGAATAAAAACGCCTACTCGC 0.567 NA T||| 3740 0.746805 0.8616 0.6297 5008 , , NA 16344 0.9494 NA 0.5676 False NA ,,, NA NA NA 2504 0.6503 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025608 CCDS33665.1, CCDS33666.1 22q13.31 2011-02-23 2011-02-23 2011-02-23 ENSG00000100364 ENSG00000100364 23313 1314 protein-coding gene gene with protein product chromosome 22 open reading frame 9 C22orf9 NA 10231032 Standard NM_001009880 NM_015264 NA Approved bK268H5.C22.1 uc003bfw.1 Q6ICG6 OTTHUMG00000151263 ENST00000336156.5:c.*4453G>A chr22.hg19:g.45588604C>T NA B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2 hg19 CCDS33665.1 0.02 8.605133 AAAxGCC COVERED NOVEL KIAA0930-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321975.2 1 24.979571 KEEP 0 0 0 83 2870 CC 1 1 0 - 11 60 380 0 0 24.257855 211 60 7423 393 ENST00000336156.5 0.04955 1 KIAA0930 23313 __UNKNOWN__ __UNKNOWN__ 22 45592577 45592577 __UNKNOWN__ 3'UTR SNP G G A rs2072718 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45592577G>A ENST00000336156.5 - 0 1760 KIAA0930_ENST00000251993.7_3'UTR|KIAA0930_ENST00000391627.2_3'UTR NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 NA NA endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GGACTGACTCGGGTGCTGAAG 0.532 NA G||| 16 0.00319489 0.0 0.0 5008 , , NA 14756 0.0159 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK025608 CCDS33665.1, CCDS33666.1 22q13.31 2011-02-23 2011-02-23 2011-02-23 ENSG00000100364 ENSG00000100364 23313 1314 protein-coding gene gene with protein product chromosome 22 open reading frame 9 C22orf9 NA 10231032 Standard NM_001009880 NM_015264 NA Approved bK268H5.C22.1 uc003bfw.1 Q6ICG6 OTTHUMG00000151263 ENST00000336156.5:c.*480C>T chr22.hg19:g.45592577G>A NA B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2 hg19 CCDS33665.1 0.02 6.461775 CTCxGGT COVERED NOVEL KIAA0930-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000321975.2 2 14.445117 KEEP 0 0 0 48 1617 GG 1 1 0 - 14 60 490 0 0 33.97022 180 60 6276 290 ENST00000336156.5 0.072165 1 FAM118A 55007 __UNKNOWN__ __UNKNOWN__ 22 45723854 45723854 __UNKNOWN__ Silent SNP C C G rs9615108 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45723854C>G ENST00000405673.1 + 4 501 c.432C>G c.(430-432)gtC>gtG p.V144V FAM118A_ENST00000216214.3_Silent_p.V144V|FAM118A_ENST00000441876.2_Silent_p.V144V Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A 144 NA integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GCGCCATGGTCCTGACCACCA 0.597 NA C||| 1569 0.313299 0.0371 0.5014 5008 , , NA 18201 0.3006 NA 0.5905 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 C , 546,3860 246.5+/-255.1 36,474,1693 52 43 46 432,432 -7.5 0.9 22 dbSNP_119 46 5192,3408 636.3+/-399.1 1559,2074,667 no coding-synonymous,coding-synonymous FAM118A NM_001104595.1,NM_017911.2 , 1595,2548,2360 GG,GC,CC 39.6279,12.3922,44.1181 , 144/358,144/358 45723854 5738,7268 2203 4300 6503 SO:0001819 synonymous_variant BC013696 CCDS14065.1 22q13.3 2006-04-26 2006-04-26 2006-04-26 ENSG00000100376 ENSG00000100376 55007 1313 protein-coding gene gene with protein product chromosome 22 open reading frame 8 C22orf8 NA 12477932 Standard NM_017911 NM_001104595 NA Approved FLJ20635, bK268H5.C22.4 uc003bga.4 Q9NWS6 OTTHUMG00000151338 ENST00000405673.1:c.432C>G chr22.hg19:g.45723854C>G NA B3KWG4|B4DY02|Q5TII5|Q96CY3 hg19 0.02 12.597416 GGTxCTG COVERED NOVEL FAM118A-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000322262.1 30 32.806138 KEEP 0 0 0 109 3828 CC 1 1 0 + 12 60 437 0 0 28.578164 252 60 9279 470 ENST00000405673.1 0.045455 1 FAM118A 55007 __UNKNOWN__ __UNKNOWN__ 22 45731182 45731182 __UNKNOWN__ Intron SNP C C T rs738176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45731182C>T ENST00000216214.3 + 8 1771 FAM118A_ENST00000405548.3_Intron|FAM118A_ENST00000441876.2_Intron NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCGAGGAGGACGAGCTCTTGG 0.597 NA C||| 1581 0.315695 0.0371 0.5014 5008 , , NA 18586 0.3175 NA 0.5865 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 C , 546,3860 247.2+/-255.5 37,472,1694 182 150 161 , -8.5 0 22 dbSNP_86 161 5165,3435 636.8+/-399.1 1544,2077,679 no intron,intron FAM118A NM_001104595.1,NM_017911.2 , 1581,2549,2373 TT,TC,CC 39.9419,12.3922,43.9105 , , 45731182 5711,7295 2203 4300 6503 SO:0001627 intron_variant BC013696 CCDS14065.1 22q13.3 2006-04-26 2006-04-26 2006-04-26 ENSG00000100376 ENSG00000100376 55007 1313 protein-coding gene gene with protein product chromosome 22 open reading frame 8 C22orf8 NA 12477932 Standard NM_017911 NM_001104595 NA Approved FLJ20635, bK268H5.C22.4 uc003bga.4 Q9NWS6 OTTHUMG00000151338 ENST00000216214.3:c.938-49C>T chr22.hg19:g.45731182C>T NA B3KWG4|B4DY02|Q5TII5|Q96CY3 hg19 CCDS14065.1 0.02 4.281556 GGAxGAG COVERED NOVEL FAM118A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322260.1 0 11.435784 KEEP 0 0 0 38 1272 CC 1 0.999977 0 + 6 60 221 0 0 15.056483 96 60 3468 161 ENST00000216214.3 0.058824 0.999978 FAM118A 55007 __UNKNOWN__ __UNKNOWN__ 22 45736485 45736485 __UNKNOWN__ 3'UTR SNP C C T rs2064068 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45736485C>T ENST00000216214.3 + 0 2107 FAM118A_ENST00000441876.2_3'UTR NM_001104595.1 NP_001098065.1 Q9NWS6 F118A_HUMAN family with sequence similarity 118, member A NA NA integral component of membrane (GO:0016021) endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) AGGAGGGTGACGCGGACACAT 0.562 NA C||| 1515 0.302516 0.0477 0.4813 5008 , , NA 17461 0.3185 NA 0.5149 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC013696 CCDS14065.1 22q13.3 2006-04-26 2006-04-26 2006-04-26 ENSG00000100376 ENSG00000100376 55007 1313 protein-coding gene gene with protein product chromosome 22 open reading frame 8 C22orf8 NA 12477932 Standard NM_017911 NM_001104595 NA Approved FLJ20635, bK268H5.C22.4 uc003bga.4 Q9NWS6 OTTHUMG00000151338 ENST00000216214.3:c.*199C>T chr22.hg19:g.45736485C>T NA B3KWG4|B4DY02|Q5TII5|Q96CY3 hg19 CCDS14065.1 0.02 12.803466 TGAxGCG COVERED NOVEL FAM118A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322260.1 0 9.027828 KEEP 0 0 0 30 983 CC 0.999997 0.999997 0 + 19 60 655 0 0 43.27382 303 60 10100 351 ENST00000216214.3 0.059006 1 SMC1B 27127 __UNKNOWN__ __UNKNOWN__ 22 45740096 45740096 __UNKNOWN__ 3'UTR SNP C C T rs3747238 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45740096C>T ENST00000357450.4 - 0 4048 NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B NA NA meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062) chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TACTTGGGTGCAAGGCAAGAT 0.318 NA C||| 1506 0.300719 0.0454 0.4827 5008 , , NA 17437 0.3165 NA 0.5149 False NA ,,, NA NA NA 2504 0.2802 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AJ504806 CCDS43027.1, CCDS74876.1 22q13 2006-07-06 2006-07-06 2006-07-06 ENSG00000077935 ENSG00000077935 27127 Structural maintenance of chromosomes proteins 11112 protein-coding gene gene with protein product 608685 SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast) SMC1L2 NA 10591208, 11564881 Standard NM_148674 XM_005261566 NA Approved bK268H5 uc003bgc.3 Q8NDV3 OTTHUMG00000151334 ENST00000357450.4:c.*341G>A chr22.hg19:g.45740096C>T NA A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5 hg19 CCDS43027.1 0.02 5.82752 GTGxAAG COVERED NOVEL SMC1B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322256.2 3 13.54421 KEEP 0 0 0 45 1618 CC 1 1 0 - 11 60 396 0 0 26.404608 187 60 7180 309 ENST00000357450.4 0.055556 1 SMC1B 27127 __UNKNOWN__ __UNKNOWN__ 22 45741543 45741543 __UNKNOWN__ Intron SNP G G C rs5765260 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45741543G>C ENST00000357450.4 - 24 3495 SMC1B_ENST00000404354.3_Intron NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B NA NA meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062) chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) AGTCTGGTCAGTTTAGGTGAC 0.378 NA G||| 1508 0.301118 0.0454 0.4827 5008 , , NA 18723 0.3165 NA 0.5159 False NA ,,, NA NA NA 2504 0.2812 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ504806 CCDS43027.1, CCDS74876.1 22q13 2006-07-06 2006-07-06 2006-07-06 ENSG00000077935 ENSG00000077935 27127 Structural maintenance of chromosomes proteins 11112 protein-coding gene gene with protein product 608685 SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast) SMC1L2 NA 10591208, 11564881 Standard NM_148674 XM_005261566 NA Approved bK268H5 uc003bgc.3 Q8NDV3 OTTHUMG00000151334 ENST00000357450.4:c.3496-93C>G chr22.hg19:g.45741543G>C NA A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5 hg19 CCDS43027.1 0.02 4.243771 TCAxTTT COVERED NOVEL SMC1B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322256.2 1 2.846514 KEEP 0 1 39 23 818 GG 0.999909 0.999909 0 - 7 60 268 0 0 18.327784 122 60 4536 166 ENST00000357450.4 0.054264 1 SMC1B 27127 __UNKNOWN__ __UNKNOWN__ 22 45748339 45748339 __UNKNOWN__ Silent SNP A A G rs5765275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45748339A>G ENST00000357450.4 - 22 3416 c.3417T>C c.(3415-3417)gcT>gcC p.A1139A SMC1B_ENST00000404354.3_Intron NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1139 Ala/Asp-rich (DA-box). NA meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062) chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ACCTGTGCACAGCAAACAGGA 0.438 NA G||| 1451 0.289736 0.0499 0.4683 5008 , , NA 16723 0.2946 NA 0.494 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 G 436,3384 27,382,1501 75 74 74 3417 -1.2 1 22 dbSNP_114 74 4259,3963 1097,2065,949 no coding-synonymous SMC1B NM_148674.3 1124,2447,2450 GG,GA,AA 48.2,11.4136,38.9885 1139/1236 45748339 4695,7347 1910 4111 6021 SO:0001819 synonymous_variant AJ504806 CCDS43027.1, CCDS74876.1 22q13 2006-07-06 2006-07-06 2006-07-06 ENSG00000077935 ENSG00000077935 27127 Structural maintenance of chromosomes proteins 11112 protein-coding gene gene with protein product 608685 SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast) SMC1L2 NA 10591208, 11564881 Standard NM_148674 XM_005261566 NA Approved bK268H5 uc003bgc.3 Q8NDV3 OTTHUMG00000151334 ENST00000357450.4:c.3417T>C chr22.hg19:g.45748339A>G NA A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5 hg19 CCDS43027.1 0.02 5.499769 CACxGCA COVERED NOVEL SMC1B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322256.2 3 11.735888 KEEP 0 0 0 39 1243 AA 1 1 0 - 9 70 297 0 0 18.280237 181 60 6697 288 ENST00000357450.4 0.047368 1 SMC1B 27127 __UNKNOWN__ __UNKNOWN__ 22 45749983 45749983 __UNKNOWN__ Missense_Mutation SNP G G T rs5764698 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45749983G>T ENST00000357450.4 - 21 3147 c.3148C>A c.(3148-3150)Ctg>Atg p.L1050M SMC1B_ENST00000404354.3_Missense_Mutation_p.L1050M NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1050 NA L -> M (in dbSNP:rs5764698). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}. meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062) chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TGCCTACACAGTCTGGCTTCC 0.383 NA T||| 1443 0.288139 0.0477 0.4654 5008 , , NA 16415 0.2946 NA 0.492 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 T MET/LEU 425,3289 27,371,1459 163 143 149 3148 2.4 0.8 22 dbSNP_114 149 4234,3950 1085,2064,943 yes missense SMC1B NM_148674.3 15 1112,2435,2402 TT,TG,GG 48.2649,11.4432,39.1578 benign 1050/1236 45749983 4659,7239 1857 4092 5949 SO:0001583 missense AJ504806 CCDS43027.1, CCDS74876.1 22q13 2006-07-06 2006-07-06 2006-07-06 ENSG00000077935 ENSG00000077935 27127 Structural maintenance of chromosomes proteins 11112 protein-coding gene gene with protein product 608685 SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast) SMC1L2 NA 10591208, 11564881 Standard NM_148674 XM_005261566 NA Approved bK268H5 uc003bgc.3 Q8NDV3 OTTHUMG00000151334 ENST00000357450.4:c.3148C>A chr22.hg19:g.45749983G>T ENSP00000350036:p.Leu1050Met NA A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5 hg19 CCDS43027.1 0.02 19.808319 ACAxTCT COVERED 758 0.34706959706959706 31 0.06300813008130081 154 0.425414364640884 191 0.3339160839160839 382 0.503957783641161 T 11.54 1.670439 0.29693 0.114432 0.517351 ENSG00000077935 ENST00000357450;ENST00000404354 T;T 0.79141 -1.24;-1.04 5.74 2.38 0.29361 . 0.712653 0.13384 N 0.391884 T 0.00012 0.0000 N 0.14661 0.345 0.58432 P 5.000000000032756E-6 B;B 0.02656 0.0;0.0 B;B 0.08055 0.003;0.003 T 0.40021 -0.9585 9 0.46703 T 0.11 . 2.7414 0.05254 0.1118:0.1276:0.347:0.4136 rs5764698;rs17639107;rs5764698 1050;1050 Q8NDV3-2;Q8NDV3-3 .;. M 1050 ENSP00000350036:L1050M;ENSP00000385902:L1050M ENSP00000350036:L1050M L - 1 2 SMC1B 44128647 0.249000 0.23941 0.776000 0.31678 0.951000 0.60555 0.418000 0.21230 0.107000 0.17824 -0.346000 0.07831 CTG NOVEL SMC1B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322256.2 4 27.389628 KEEP 0 0 0 91 3276 GG 1 1 0 - 15 60 551 0 0 33.653588 439 60 16769 691 ENST00000357450.4 0.03304 1 SMC1B 27127 __UNKNOWN__ __UNKNOWN__ 22 45755666 45755666 __UNKNOWN__ Intron SNP C C T rs1012493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45755666C>T ENST00000357450.4 - 18 2862 SMC1B_ENST00000404354.3_Intron NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B NA NA meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062) chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ACATATTTTACAGTCATTTGC 0.418 NA C||| 1496 0.298722 0.0817 0.4683 5008 , , NA 19827 0.2996 NA 0.493 False NA ,,, NA NA NA 2504 0.271 NA NA NA NA 0 C 575,3309 50,475,1417 119 99 105 0.4 0 22 dbSNP_86 105 4237,4019 1086,2065,977 no intron SMC1B NM_148674.3 1136,2540,2394 TT,TC,CC 48.6797,14.8043,39.6376 45755666 4812,7328 1942 4128 6070 SO:0001627 intron_variant AJ504806 CCDS43027.1, CCDS74876.1 22q13 2006-07-06 2006-07-06 2006-07-06 ENSG00000077935 ENSG00000077935 27127 Structural maintenance of chromosomes proteins 11112 protein-coding gene gene with protein product 608685 SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast) SMC1L2 NA 10591208, 11564881 Standard NM_148674 XM_005261566 NA Approved bK268H5 uc003bgc.3 Q8NDV3 OTTHUMG00000151334 ENST00000357450.4:c.2862+18G>A chr22.hg19:g.45755666C>T NA A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5 hg19 CCDS43027.1 0.02 22.040346 TTAxAGT COVERED NOVEL SMC1B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322256.2 4 16.624078 KEEP 0 2 62 77 2775 CC 1 1 0 - 26 60 971 0 0 64.251156 514 60 19679 755 ENST00000357450.4 0.048148 1 SMC1B 27127 __UNKNOWN__ __UNKNOWN__ 22 45758758 45758758 __UNKNOWN__ Intron SNP T T C rs719925 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45758758T>C ENST00000357450.4 - 16 2562 SMC1B_ENST00000404354.3_Intron NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B NA NA meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062) chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991) ATP binding (GO:0005524)|DNA binding (GO:0003677) breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TACCCATTATTAATTACCTTC 0.388 NA T||| 1500 0.299521 0.0817 0.4697 5008 , , NA 18215 0.2996 NA 0.495 False NA ,,, NA NA NA 2504 0.272 NA NA NA NA 0 T 574,3154 52,470,1342 152 143 146 -0.7 0 22 dbSNP_86 146 4270,3920 1111,2048,936 no intron SMC1B NM_148674.3 1163,2518,2278 CC,CT,TT 47.8632,15.397,40.6444 45758758 4844,7074 1864 4095 5959 SO:0001627 intron_variant AJ504806 CCDS43027.1, CCDS74876.1 22q13 2006-07-06 2006-07-06 2006-07-06 ENSG00000077935 ENSG00000077935 27127 Structural maintenance of chromosomes proteins 11112 protein-coding gene gene with protein product 608685 SMC1 (structural maintenance of chromosomes 1, yeast)-like 1, SMC1 structural maintenance of chromosomes 1-like 2 (yeast) SMC1L2 NA 10591208, 11564881 Standard NM_148674 XM_005261566 NA Approved bK268H5 uc003bgc.3 Q8NDV3 OTTHUMG00000151334 ENST00000357450.4:c.2562+6A>G chr22.hg19:g.45758758T>C NA A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5 hg19 CCDS43027.1 0.02 2.227928 TATxAAT COVERED NOVEL SMC1B-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322256.2 1 5.11431 KEEP 0 0 0 17 521 TT 0.999366 0.999315 0 - 5 60 183 0 0 12.11906 93 60 3385 153 ENST00000357450.4 0.05102 0.999948 FBLN1 2192 __UNKNOWN__ __UNKNOWN__ 22 45927042 45927042 __UNKNOWN__ Intron SNP G G A rs16994176 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:45927042G>A ENST00000262722.7 + 5 587 FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000402984.3_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000340923.5_Intron NM_001996.3 NP_001987 P23142 FBLN1_HUMAN fibulin 1 NA NA embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GTTCAAATGGGCATTACTGCC 0.328 NA G||| 444 0.0886581 0.028 0.2522 5008 , , NA 22149 0.13 NA 0.0437 False NA ,,, NA NA NA 2504 0.0583 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1 22q13.31 2010-06-15 ENSG00000077942 ENSG00000077942 2192 Fibulins 3600 protein-coding gene gene with protein product 135820 NA 2269669, 1400330 Standard NM_006486 NM_006485 NA Approved FBLN uc003bgj.1 P23142 OTTHUMG00000151340 ENST00000262722.7:c.485-103G>A chr22.hg19:g.45927042G>A NA B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41 hg19 CCDS14069.1 0.02 3.783373 TGGxCAT COVERED NOVEL FBLN1-003 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000322289.1 2 8.125864 KEEP 0 0 0 27 913 GG 0.999988 0.999988 0 + 5 60 184 0 0 11.485453 131 60 4639 169 ENST00000262722.7 0.036765 1 WNT7B 7477 __UNKNOWN__ __UNKNOWN__ 22 46317490 46317490 __UNKNOWN__ 3'UTR SNP G G A rs73175048 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:46317490G>A ENST00000339464.4 - 0 2670 NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B NA NA activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) CCTGACCCCCGCGGCAGCACT 0.637 NA g||| 555 0.110823 0.034 0.0965 5008 , , NA 17015 0.1845 NA 0.1272 False NA ,,, NA NA NA 2504 0.1319 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF416743 CCDS33667.1 22q13 2013-02-28 ENSG00000188064 ENSG00000188064 7477 Wingless-type MMTV integration sites, Endogenous ligands 12787 protein-coding gene gene with protein product 601967 NA 8168088, 9284940, 11562755 Standard NM_058238 NM_058238 NA Approved uc003bgo.2 P56706 OTTHUMG00000154636 ENST00000339464.4:c.*1246C>T chr22.hg19:g.46317490G>A NA B8A596|Q96Q12 hg19 CCDS33667.1 0.02 8.792303 CCCxCGG COVERED NOVEL WNT7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000336418.1 4 7.222497 KEEP 0 0 0 24 803 GG 0.999909 0.999909 0 - 8 60 259 0 0 15.274578 204 60 7113 282 ENST00000339464.4 0.037736 1 WNT7B 7477 __UNKNOWN__ __UNKNOWN__ 22 46318159 46318159 __UNKNOWN__ 3'UTR SNP T T G rs9330785 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:46318159T>G ENST00000409496.3 - 0 2116 WNT7B_ENST00000339464.4_3'UTR|WNT7B_ENST00000410089.1_3'UTR P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B NA NA activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) AGAGGGTGTCTAGGGGATGGG 0.562 NA G||| 2022 0.403754 0.6664 0.4452 5008 , , NA 17064 0.2123 NA 0.333 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF416743 CCDS33667.1 22q13 2013-02-28 ENSG00000188064 ENSG00000188064 7477 Wingless-type MMTV integration sites, Endogenous ligands 12787 protein-coding gene gene with protein product 601967 NA 8168088, 9284940, 11562755 Standard NM_058238 NM_058238 NA Approved uc003bgo.2 P56706 OTTHUMG00000154636 ENST00000409496.3:c.*577A>C chr22.hg19:g.46318159T>G NA B8A596|Q96Q12 hg19 0.02 7.262213 GTCxAGG COVERED NOVEL WNT7B-003 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000336420.1 3 4.045496 KEEP 0 1 33 25 770 TT 0.999957 0.999957 0 - 7 60 256 0 0 16.255245 164 60 5923 245 ENST00000409496.3 0.040936 1 TBC1D22A 25771 __UNKNOWN__ __UNKNOWN__ 22 47393589 47393589 __UNKNOWN__ Silent SNP C C T rs369777766 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:47393589C>T ENST00000337137.4 + 10 1351 c.1185C>T c.(1183-1185)ctC>ctT p.L395L TBC1D22A_ENST00000407381.3_Silent_p.L336L|TBC1D22A_ENST00000355704.3_Silent_p.L317L|TBC1D22A_ENST00000406733.1_Silent_p.L348L NM_001284304.1|NM_001284305.1|NM_014346.2 NP_001271233.1|NP_001271234.1|NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 395 Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}. NA protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097) breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) TAGAAGAACTCGTGAGCCGGA 0.502 NA C||| 1 0.000199681 0.0 0.0 5008 , , NA 19317 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 0,4406 0,0,2203 71 69 69 1185 -11.3 0 22 69 1,8599 1.2+/-3.3 0,1,4299 no coding-synonymous TBC1D22A NM_014346.2 0,1,6502 TT,TC,CC 0.0116,0.0,0.0077 395/518 47393589 1,13005 2203 4300 6503 SO:0001819 synonymous_variant AK125705 CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1 22q13 2008-01-22 2005-01-05 2005-01-05 ENSG00000054611 ENSG00000054611 25771 1309 protein-coding gene gene with protein product chromosome 22 open reading frame 4 C22orf4 NA Standard NM_014346 XM_005261496 NA Approved uc003bib.3 Q8WUA7 OTTHUMG00000150332 ENST00000337137.4:c.1185C>T chr22.hg19:g.47393589C>T NA B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5 hg19 CCDS14078.1 0.02 3.922705 ACTxGTG COVERED NOVEL TBC1D22A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317600.3 0 18.659354 KEEP 0 0 0 62 2109 CC 1 1 0 + 5 60 182 0 0 11.193027 137 60 4693 254 ENST00000337137.4 0.035211 1 CTA-299D3.8 0 __UNKNOWN__ __UNKNOWN__ 22 48942315 48942315 __UNKNOWN__ Intron SNP T T G rs5768722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:48942315T>G ENST00000407505.3 - 3 605 FAM19A5_ENST00000402357.1_Intron|CTA-299D3.8_ENST00000467207.1_Intron NA NA NA GACGCCCCTGTTTTTCTCACC 0.582 NA T||| 210 0.0419329 0.0015 0.0144 5008 , , NA 19187 0.1865 NA 0.006 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant NA NA NA NA ENST00000407505.3:c.71+9A>C chr22.hg19:g.48942315T>G NA hg19 0.02 16.516511 CTGxTTT COVERED NOVEL CTA-299D3.8-001 PUTATIVE basic|appris_principal|exp_conf protein_coding NA protein_coding OTTHUMT00000317509.1 1 12.933708 KEEP 0 0 0 43 1252 TT 1 1 0 - 16 60 601 0 0 39.47672 336 60 11771 464 ENST00000407505.3 0.045455 1 BRD1 23774 __UNKNOWN__ __UNKNOWN__ 22 50192174 50192174 __UNKNOWN__ Intron SNP C C T rs6009878 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50192174C>T ENST00000216267.8 - 4 2272 BRD1_ENST00000342989.5_Intron|BRD1_ENST00000457780.2_Intron|BRD1_ENST00000404760.1_Intron|BRD1_ENST00000542442.1_Intron|BRD1_ENST00000404034.1_Intron NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 NA NA histone H3 acetylation (GO:0043966) MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634) histone binding (GO:0042393)|zinc ion binding (GO:0008270) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GTCACACATGCGGCAGGACAG 0.522 NA C||| 680 0.135783 0.3306 0.0519 5008 , , NA 17410 0.0913 NA 0.0189 False NA ,,, NA NA NA 2504 0.0982 NA NA NA NA 0 C 1110,3296 393.1+/-328.7 141,828,1234 77 67 70 -3.2 0 22 dbSNP_114 70 263,8337 100.1+/-161.6 6,251,4043 no intron BRD1 NM_014577.1 147,1079,5277 TT,TC,CC 3.0581,25.1929,10.5567 50192174 1373,11633 2203 4300 6503 SO:0001627 intron_variant AF005067 CCDS14080.1 22q13.33 2008-07-01 2002-01-14 ENSG00000100425 ENSG00000100425 23774 1102 protein-coding gene gene with protein product BR140-like 604589 bromodomain-containing 1 NA 10591208, 10602503 Standard NM_014577 NM_014577 NA Approved BRL, BRPF2 uc003biv.3 O95696 OTTHUMG00000150288 ENST00000216267.8:c.1785+31G>A chr22.hg19:g.50192174C>T NA A6ZJA4 hg19 CCDS14080.1 0.02 22.882707 ATGxGGC COVERED NOVEL BRD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317402.1 5 34.112755 KEEP 0 3 87 144 5114 CC 1 1 0 - 18 60 647 0 0 38.644556 550 60 19814 942 ENST00000216267.8 0.03169 1 BRD1 23774 __UNKNOWN__ __UNKNOWN__ 22 50216754 50216754 __UNKNOWN__ Silent SNP G G A rs2239848 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50216754G>A ENST00000216267.8 - 1 1698 c.1212C>T c.(1210-1212)gtC>gtT p.V404V BRD1_ENST00000342989.5_5'UTR|BRD1_ENST00000457780.2_Silent_p.V404V|BRD1_ENST00000404760.1_Silent_p.V404V|BRD1_ENST00000542442.1_Silent_p.V43V|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000404034.1_Silent_p.V404V NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 404 NA histone H3 acetylation (GO:0043966) MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634) histone binding (GO:0042393)|zinc ion binding (GO:0008270) endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) TTTTCATTTCGACATCCCCGT 0.527 NA G||| 707 0.141174 0.3502 0.0418 5008 , , NA 19275 0.1458 NA 0.0089 False NA ,,, NA NA NA 2504 0.0603 NA NA NA NA 0 G 1199,3207 418.5+/-338.3 164,871,1168 142 163 156 1212 -6.7 0 22 dbSNP_98 156 107,8493 57.2+/-118.5 1,105,4194 no coding-synonymous BRD1 NM_014577.1 165,976,5362 AA,AG,GG 1.2442,27.2129,10.0415 404/1059 50216754 1306,11700 2203 4300 6503 SO:0001819 synonymous_variant AF005067 CCDS14080.1 22q13.33 2008-07-01 2002-01-14 ENSG00000100425 ENSG00000100425 23774 1102 protein-coding gene gene with protein product BR140-like 604589 bromodomain-containing 1 NA 10591208, 10602503 Standard NM_014577 NM_014577 NA Approved BRL, BRPF2 uc003biv.3 O95696 OTTHUMG00000150288 ENST00000216267.8:c.1212C>T chr22.hg19:g.50216754G>A NA A6ZJA4 hg19 CCDS14080.1 0.02 22.322236 TTCxACA COVERED NOVEL BRD1-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317402.1 5 42.432429 KEEP 0 0 0 141 4769 GG 1 1 0 - 21 60 742 0 0 46.109882 510 60 17741 846 ENST00000216267.8 0.039548 1 CRELD2 79174 __UNKNOWN__ __UNKNOWN__ 22 50313727 50313727 __UNKNOWN__ Intron SNP A A G rs7410773 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50313727A>G ENST00000404488.3 + 4 458 CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Intron NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 NA NA endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794) calcium ion binding (GO:0005509) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TCCAGAGCATATGTTACGTTC 0.418 NA A||| 674 0.134585 0.2511 0.0461 5008 , , NA 22244 0.0506 NA 0.0666 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC050675 CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1 22q13.33 2005-12-08 ENSG00000184164 ENSG00000184164 79174 28150 protein-coding gene gene with protein product 607171 NA 12137942 Standard NM_024324 XM_005261737 NA Approved MGC11256 uc010hal.2 Q6UXH1 OTTHUMG00000150292 ENST00000404488.3:c.324-77A>G chr22.hg19:g.50313727A>G NA A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47 hg19 CCDS46730.1 0.02 9.265123 CATxTGT COVERED NOVEL CRELD2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317410.1 3 29.740074 KEEP 0 1 11 103 3233 AA 1 1 0 + 12 60 467 0 0 32.329365 203 60 7246 397 ENST00000404488.3 0.055814 1 PIM3 415116 __UNKNOWN__ __UNKNOWN__ 22 50356274 50356274 __UNKNOWN__ Intron SNP C C T rs28645887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50356274C>T ENST00000360612.4 + 5 1051 NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN Pim-3 proto-oncogene, serine/threonine kinase NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) CCAGCAGGGACCTCGCCGTCT 0.627 NA C||| 2103 0.419928 0.472 0.5346 5008 , , NA 13276 0.4127 NA 0.4861 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC052239 CCDS33678.1 22q13 2014-06-25 2014-06-25 ENSG00000198355 ENSG00000198355 415116 19310 protein-coding gene gene with protein product 610580 pim-3 oncogene NA 12477932 Standard NM_001001852 NM_001001852 NA Approved uc003bjb.3 Q86V86 OTTHUMG00000150290 ENST00000360612.4:c.617-63C>T chr22.hg19:g.50356274C>T NA A5D8X8|A8K7J0|B1B0P0|Q68BM2 hg19 CCDS33678.1 0.02 4.584059 GGAxCTC COVERED NOVEL PIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317406.1 2 4.779021 KEEP 0 2 48 33 1081 CC 0.999999 0.999994 0 + 11 60 410 0 0 30.586901 102 60 3652 151 ENST00000360612.4 0.097345 0.999995 PIM3 415116 __UNKNOWN__ __UNKNOWN__ 22 50356302 50356302 __UNKNOWN__ Intron SNP C C T rs28691713 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50356302C>T ENST00000360612.4 + 5 1051 NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN Pim-3 proto-oncogene, serine/threonine kinase NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) GGCTCTGCCTCTGTGGTGGGC 0.642 NA C||| 2240 0.447284 0.5726 0.5418 5008 , , NA 13172 0.4117 NA 0.4861 False NA ,,, NA NA NA 2504 0.2076 NA NA NA NA 0 2515,1891 724,1067,412 34 32 32 -5.2 0 22 dbSNP_125 32 4162,4432 1001,2160,1136 no intron PIM3 NM_001001852.3 1725,3227,1548 TT,TC,CC 48.4291,42.9187,48.6385 50356302 6677,6323 2203 4297 6500 SO:0001627 intron_variant BC052239 CCDS33678.1 22q13 2014-06-25 2014-06-25 ENSG00000198355 ENSG00000198355 415116 19310 protein-coding gene gene with protein product 610580 pim-3 oncogene NA 12477932 Standard NM_001001852 NM_001001852 NA Approved uc003bjb.3 Q86V86 OTTHUMG00000150290 ENST00000360612.4:c.617-35C>T chr22.hg19:g.50356302C>T NA A5D8X8|A8K7J0|B1B0P0|Q68BM2 hg19 CCDS33678.1 0.02 4.173632 CCTxTGT COVERED NOVEL PIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317406.1 3 11.43571 KEEP 0 3 73 64 2123 CC 1 1 0 + 11 60 385 0 0 27.1267 126 60 4715 214 ENST00000360612.4 0.080292 1 PIM3 415116 __UNKNOWN__ __UNKNOWN__ 22 50356555 50356555 __UNKNOWN__ Intron SNP T T C rs4078443 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50356555T>C ENST00000360612.4 + 6 1228 NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN Pim-3 proto-oncogene, serine/threonine kinase NA NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) CTCGCCCTGCTTGGGCCCTCC 0.701 NA C||| 3636 0.726038 0.761 0.817 5008 , , NA 14123 0.7788 NA 0.7674 False NA ,,, NA NA NA 2504 0.5174 NA NA NA NA 0 3338,1056 1270,798,129 26 29 28 0.2 0 22 dbSNP_108 28 6465,2131 2423,1619,256 no intron PIM3 NM_001001852.3 3693,2417,385 CC,CT,TT 24.7906,24.0328,24.5343 50356555 9803,3187 2197 4298 6495 SO:0001627 intron_variant BC052239 CCDS33678.1 22q13 2014-06-25 2014-06-25 ENSG00000198355 ENSG00000198355 415116 19310 protein-coding gene gene with protein product 610580 pim-3 oncogene NA 12477932 Standard NM_001001852 NM_001001852 NA Approved uc003bjb.3 Q86V86 OTTHUMG00000150290 ENST00000360612.4:c.794-33T>C chr22.hg19:g.50356555T>C NA A5D8X8|A8K7J0|B1B0P0|Q68BM2 hg19 CCDS33678.1 0.02 6.898686 TGCxTGG COVERED NOVEL PIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317406.1 2 38.946782 KEEP 0 4 142 179 5506 TT 1 1 0 + 8 60 300 0 0 19.878266 159 60 5489 436 ENST00000360612.4 0.047904 1 PIM3 415116 __UNKNOWN__ __UNKNOWN__ 22 50356693 50356693 __UNKNOWN__ Missense_Mutation SNP T T C rs4077129 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50356693T>C ENST00000360612.4 + 6 1334 c.899T>C c.(898-900)gTc>gCc p.V300A NM_001001852.3 NP_001001852.2 Q86V86 PIM3_HUMAN Pim-3 proto-oncogene, serine/threonine kinase 300 NA V -> A (in Ref. 1; BAD42438, 2; BAF84694 and 4; AAI41856). {ECO:0000305}. apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346) cytoplasm (GO:0005737) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) NA all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247) GACGGGGGCGTCCCGGAGAGC 0.682 NA t||| 3631 0.72504 0.761 0.817 5008 , , NA 14843 0.7778 NA 0.7674 False NA ,,, NA NA NA 2504 0.5133 NA NA NA NA 0 ALA/VAL 3358,1032 1290,778,127 17 20 19 899 -1.3 0 22 dbSNP_108 19 6436,2156 2411,1614,271 yes missense PIM3 NM_001001852.3 64 3701,2392,398 CC,CT,TT 25.0931,23.508,24.5571 benign 300/327 50356693 9794,3188 2195 4296 6491 SO:0001583 missense BC052239 CCDS33678.1 22q13 2014-06-25 2014-06-25 ENSG00000198355 ENSG00000198355 415116 19310 protein-coding gene gene with protein product 610580 pim-3 oncogene NA 12477932 Standard NM_001001852 NM_001001852 NA Approved uc003bjb.3 Q86V86 OTTHUMG00000150290 ENST00000360612.4:c.899T>C chr22.hg19:g.50356693T>C ENSP00000353824:p.Val300Ala NA A5D8X8|A8K7J0|B1B0P0|Q68BM2 hg19 CCDS33678.1 0.02 4.572643 GCGxCCC COVERED 1706 0.7811355311355311 378 0.7682926829268293 295 0.8149171270718232 455 0.7954545454545454 578 0.762532981530343 t 0.018 -1.475491 0.01035 0.76492 0.749069 ENSG00000198355 ENST00000360612 T 0.19806 2.12 4.69 -1.31 0.09230 Protein kinase-like domain (1); 1.135800 0.06926 N 0.810324 T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B 0.10296 0.003 B 0.04013 0.001 T 0.34502 -0.9826 9 0.06236 T 0.91 . 4.6066 0.12380 0.2248:0.3808:0.0:0.3944 rs4077129;rs11541024 300 Q86V86 PIM3_HUMAN A 300 ENSP00000353824:V300A ENSP00000353824:V300A V + 2 0 PIM3 48742697 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 0.398000 0.20899 -0.060000 0.13132 -1.217000 0.01609 GTC NOVEL PIM3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317406.1 1 24.060865 KEEP 0 6 202 151 4520 TT 1 1 0 + 5 60 181 0 0 11.366622 121 60 4049 376 ENST00000360612.4 0.039683 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 50495254 50495254 __UNKNOWN__ IGR SNP A A G rs138646088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50495254A>G NA NA TTLL8 (2199 upstream) : MLC1 (2565 downstream) NA NA NA AGCCCGGGCCACTCTGGGCGA 0.592 NA A||| 42 0.00838658 0.0 0.0 5008 , , NA 16152 0.0417 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.50495254A>G NA hg19 0.02 8.803574 GCCxCTC COVERED NOVEL 0 1 13.84044 KEEP 0 0 0 46 1424 AA 1 1 0 10 60 313 0 0 17.235282 280 60 10047 400 0.034483 1 PLXNB2 23654 __UNKNOWN__ __UNKNOWN__ 22 50721226 50721226 __UNKNOWN__ Silent SNP C C A rs537392262 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50721226C>A ENST00000449103.1 - 18 3041 c.2901G>T c.(2899-2901)ggG>ggT p.G967G PLXNB2_ENST00000359337.4_Silent_p.G967G O15031 PLXB2_HUMAN plexin B2 967 IPT/TIG 2. NA brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622) GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154) breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCACGGGGGACCCCCCGTAGG 0.657 NA C||| 1 0.000199681 0.0 0.0014 5008 , , NA 13092 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 26 33 31 NA NA 22 NA 50721226 1914 4101 6015 SO:0001819 synonymous_variant CCDS43035.1 22q13.33 2008-06-12 ENSG00000196576 ENSG00000196576 23654 Plexins 9104 protein-coding gene gene with protein product 604293 NA 10520995, 12183458 Standard NM_012401 NM_012401 NA Approved MM1, KIAA0315, PLEXB2 uc003bkv.4 O15031 OTTHUMG00000150219 ENST00000449103.1:c.2901G>T chr22.hg19:g.50721226C>A NA A6QRH0|Q7KZU3|Q9BSU7 hg19 CCDS43035.1 0.02 8.449875 GGAxCCC COVERED NOVEL PLXNB2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316874.3 1 26.285578 KEEP 0 0 0 88 2916 CC 1 1 0 - 10 60 318 0 0 17.967863 264 60 9142 480 ENST00000449103.1 0.036496 1 SBF1 6305 __UNKNOWN__ __UNKNOWN__ 22 50886944 50886944 __UNKNOWN__ Intron SNP G G A rs74598385 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50886944G>A ENST00000380817.3 - 37 5335 SBF1_ENST00000390679.3_Intron|SBF1_ENST00000348911.6_Intron NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 NA NA cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CACGCCCACCGTGGACGCTCA 0.667 NA G||| 750 0.14976 0.0038 0.17 5008 , , NA 16250 0.374 NA 0.0557 False NA ,,, NA NA NA 2504 0.1984 NA NA NA NA 0 G 58,4224 0,58,2083 28 35 33 -3.9 0 22 dbSNP_131 33 489,7987 12,465,3761 no intron SBF1 NM_002972.2 12,523,5844 AA,AG,GG 5.7692,1.3545,4.2875 50886944 547,12211 2141 4238 6379 SO:0001627 intron_variant U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 10542 protein-coding gene gene with protein product myotubularin related 5, DENN/MADD domain containing 7A 603560 NA 9537414, 9736772 Standard NM_002972 NA Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.5151+27C>T chr22.hg19:g.50886944G>A NA A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 hg19 CCDS14091.2 0.02 20.639336 ACCxTGG COVERED NOVEL SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316819.2 2 49.659222 KEEP 0 0 0 165 5708 GG 1 1 0 - 18 60 670 0 0 42.578113 444 60 15606 790 ENST00000380817.3 0.038961 1 SBF1 6305 __UNKNOWN__ __UNKNOWN__ 22 50898026 50898026 __UNKNOWN__ Silent SNP G G A rs58335489 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50898026G>A ENST00000380817.3 - 27 3744 c.3561C>T c.(3559-3561)taC>taT p.Y1187Y SBF1_ENST00000390679.3_Silent_p.Y1187Y|SBF1_ENST00000348911.6_Silent_p.Y1188Y NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1187 Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}. NA cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGTTCTGGCGGTAGCAGCGGG 0.682 NA G||| 949 0.189497 0.0272 0.2507 5008 , , NA 16077 0.4524 NA 0.0666 False NA ,,, NA NA NA 2504 0.2209 NA NA NA NA 0 G 143,4147 0,143,2002 18 21 20 3561 2.5 1 22 dbSNP_129 20 573,7889 18,537,3676 no coding-synonymous SBF1 NM_002972.2 18,680,5678 AA,AG,GG 6.7714,3.3333,5.6148 1187/1894 50898026 716,12036 2145 4231 6376 SO:0001819 synonymous_variant U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 10542 protein-coding gene gene with protein product myotubularin related 5, DENN/MADD domain containing 7A 603560 NA 9537414, 9736772 Standard NM_002972 NA Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.3561C>T chr22.hg19:g.50898026G>A NA A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 hg19 CCDS14091.2 0.02 1.821487 GCGxTAG COVERED NOVEL SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316819.2 0 12.339802 KEEP 0 0 0 41 1458 GG 1 0.998695 0 - 4 60 146 0 0 9.704926 72 60 2719 151 ENST00000380817.3 0.052632 0.998696 SBF1 6305 __UNKNOWN__ __UNKNOWN__ 22 50898619 50898619 __UNKNOWN__ Intron SNP G G A rs2073278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50898619G>A ENST00000380817.3 - 26 3467 SBF1_ENST00000390679.3_Intron|SBF1_ENST00000348911.6_Intron NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 NA NA cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGGTCATCACGGGGCCACTCC 0.667 NA G||| 1828 0.365016 0.1921 0.4092 5008 , , NA 14095 0.5506 NA 0.337 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 G 916,3486 319.1+/-295.9 106,704,1391 46 56 52 -2.3 0 22 dbSNP_96 52 2940,5650 444.0+/-360.5 511,1918,1866 no intron SBF1 NM_002972.2 617,2622,3257 AA,AG,GG 34.2258,20.8087,29.6798 50898619 3856,9136 2201 4295 6496 SO:0001627 intron_variant U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 10542 protein-coding gene gene with protein product myotubularin related 5, DENN/MADD domain containing 7A 603560 NA 9537414, 9736772 Standard NM_002972 NA Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.3284-31C>T chr22.hg19:g.50898619G>A NA A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 hg19 CCDS14091.2 0.02 13.249025 CACxGGG COVERED NOVEL SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316819.2 3 25.882878 KEEP 0 0 0 86 2956 GG 1 1 0 - 16 60 592 0 0 39.330043 301 60 10165 492 ENST00000380817.3 0.050473 1 SBF1 6305 __UNKNOWN__ __UNKNOWN__ 22 50901009 50901009 __UNKNOWN__ Silent SNP C C T rs5771037 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50901009C>T ENST00000380817.3 - 18 2289 c.2106G>A c.(2104-2106)acG>acA p.T702T SBF1_ENST00000390679.3_Silent_p.T702T|SBF1_ENST00000348911.6_Silent_p.T703T NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 702 NA cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CCAGGTCCTCCGTGGGCTCCA 0.701 NA c||| 842 0.168131 0.0053 0.1686 5008 , , NA 12036 0.4425 NA 0.0606 False NA ,,, NA NA NA 2504 0.2157 NA NA NA NA 0 C 57,3819 0,57,1881 14 17 16 2106 -9.3 0 22 dbSNP_114 16 501,7745 15,471,3637 no coding-synonymous SBF1 NM_002972.2 15,528,5518 TT,TC,CC 6.0757,1.4706,4.6032 702/1894 50901009 558,11564 1938 4123 6061 SO:0001819 synonymous_variant U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 10542 protein-coding gene gene with protein product myotubularin related 5, DENN/MADD domain containing 7A 603560 NA 9537414, 9736772 Standard NM_002972 NA Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.2106G>A chr22.hg19:g.50901009C>T NA A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 hg19 CCDS14091.2 0.02 4.349174 CTCxGTG COVERED NOVEL SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316819.2 2 10.531858 KEEP 0 0 0 35 1152 CC 0.999999 0.999996 0 - 6 60 224 0 0 15.08081 107 60 3749 167 ENST00000380817.3 0.053097 0.999998 SBF1 6305 __UNKNOWN__ __UNKNOWN__ 22 50902751 50902751 __UNKNOWN__ Intron SNP C C T rs5771041 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50902751C>T ENST00000380817.3 - 15 1933 SBF1_ENST00000390679.3_Intron|SBF1_ENST00000348911.6_Intron NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 NA NA cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GCCTGCACAGCCCTCACCTTC 0.637 NA C||| 925 0.184704 0.0371 0.1772 5008 , , NA 18762 0.4544 NA 0.0636 False NA ,,, NA NA NA 2504 0.2362 NA NA NA NA 0 C 168,3980 5,158,1911 58 64 62 -0.7 0 22 dbSNP_114 62 535,7851 17,501,3675 no intron SBF1 NM_002972.2 22,659,5586 TT,TC,CC 6.3797,4.0501,5.6087 50902751 703,11831 2074 4193 6267 SO:0001627 intron_variant U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 10542 protein-coding gene gene with protein product myotubularin related 5, DENN/MADD domain containing 7A 603560 NA 9537414, 9736772 Standard NM_002972 NA Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.1749+6G>A chr22.hg19:g.50902751C>T NA A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 hg19 CCDS14091.2 0.02 1.811221 CAGxCCT COVERED NOVEL SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316819.2 2 8.125382 KEEP 0 0 0 27 942 CC 0.999997 0.999959 0 - 4 60 137 0 0 8.3396 95 60 3508 152 ENST00000380817.3 0.040404 0.999962 SBF1 6305 __UNKNOWN__ __UNKNOWN__ 22 50903221 50903221 __UNKNOWN__ Intron SNP C C T rs2076714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50903221C>T ENST00000380817.3 - 13 1615 SBF1_ENST00000390679.3_Intron|SBF1_ENST00000348911.6_Intron NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 NA NA cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283) integral component of membrane (GO:0016021)|nucleus (GO:0005634) protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGCGGTACGACGCCCTCCCGT 0.662 NA C||| 2674 0.533946 0.5272 0.536 5008 , , NA 17799 0.5595 NA 0.5278 False NA ,,, NA NA NA 2504 0.5215 NA NA NA NA 0 C 2263,1995 626,1011,492 46 53 51 -4.2 0 22 dbSNP_96 51 4672,3774 1301,2070,852 no intron SBF1 NM_002972.2 1927,3081,1344 TT,TC,CC 44.6839,46.853,45.4109 50903221 6935,5769 2129 4223 6352 SO:0001627 intron_variant U93181 CCDS14091.1, CCDS14091.2 22q13.33 2013-01-10 ENSG00000100241 ENSG00000100241 6305 Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins, DENN/MADD domain containing, Pleckstrin homology (PH) domain containing 10542 protein-coding gene gene with protein product myotubularin related 5, DENN/MADD domain containing 7A 603560 NA 9537414, 9736772 Standard NM_002972 NA Approved MTMR5, DENND7A uc003blh.3 O95248 OTTHUMG00000150204 ENST00000380817.3:c.1431+26G>A chr22.hg19:g.50903221C>T NA A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8 hg19 CCDS14091.2 0.02 3.854149 CGAxGCC COVERED NOVEL SBF1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316819.2 0 9.302357 KEEP 0 0 0 31 991 CC 0.999997 0.999997 0 - 5 60 181 0 0 11.321117 123 60 4067 182 ENST00000380817.3 0.039062 1 ADM2 79924 __UNKNOWN__ __UNKNOWN__ 22 50923042 50923042 __UNKNOWN__ 3'UTR SNP C C G rs876278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50923042C>G ENST00000395738.2 + 0 2449 ADM2_ENST00000362068.2_3'UTR NM_001253845.1|NM_024866.5 NP_001240774.1|NP_079142.2 Q7Z4H4 ADM2_HUMAN adrenomedullin 2 NA NA adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468) extracellular region (GO:0005576) protein complex binding (GO:0032403) breast(1)|kidney(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCTCAGCGTCCGCTACTCAGC 0.672 NA c||| 1036 0.206869 0.056 0.1816 5008 , , NA 14712 0.496 NA 0.0716 False NA ,,, NA NA NA 2504 0.2699 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF529213 CCDS33682.1 22q13.33 2013-02-25 ENSG00000128165 ENSG00000128165 79924 Endogenous ligands 28898 protein-coding gene gene with protein product 608682 NA 14706825 Standard NM_024866 NM_024866 NA Approved AM2, FLJ21135 uc003blj.3 Q7Z4H4 OTTHUMG00000150202 ENST00000395738.2:c.*1710C>G chr22.hg19:g.50923042C>G NA Q3LFQ0 hg19 CCDS33682.1 0.02 3.770642 GTCxGCT COVERED NOVEL ADM2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316816.1 0 7.803261 KEEP 0 0 0 26 831 CC 0.999957 0.999957 0 + 7 60 244 0 0 15.486415 142 60 4857 213 ENST00000395738.2 0.04698 1 MIOX 55586 __UNKNOWN__ __UNKNOWN__ 22 50925405 50925405 __UNKNOWN__ Intron SNP C C T rs2232876 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50925405C>T ENST00000216075.6 + 1 89 MIOX_ENST00000395732.3_Intron|MIOX_ENST00000395733.3_Intron NM_017584.5 NP_060054.4 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase NA NA inositol catabolic process (GO:0019310) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234) aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGCCACTCCCGCCCTCTTCT 0.667 NA T||| 1881 0.375599 0.3684 0.4251 5008 , , NA 15987 0.4554 NA 0.2416 False NA ,,, NA NA NA 2504 0.4059 NA NA NA NA 0 T 456,928 82,292,318 14 22 20 -7.9 0 22 dbSNP_98 20 706,2474 69,568,953 no intron MIOX NM_017584.5 151,860,1271 TT,TC,CC 22.2013,32.948,25.4601 50925405 1162,3402 692 1590 2282 SO:0001627 intron_variant AF197129 CCDS14092.1 22q13.3 2008-06-11 2005-06-15 2005-06-15 ENSG00000100253 ENSG00000100253 55586 14522 protein-coding gene gene with protein product kidney-specific protein 32 606774 aldehyde reductase (aldose reductase) like 6 ALDRL6 NA 10944187, 11716759 Standard NM_017584 NM_017584 NA Approved uc003bll.1 Q9UGB7 OTTHUMG00000150207 ENST00000216075.6:c.15+64C>T chr22.hg19:g.50925405C>T NA Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8 hg19 CCDS14092.1 0.02 3.723185 TCCxGCC COVERED NOVEL MIOX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000316835.1 0 4.815485 KEEP 0 0 0 16 551 CC 0.997832 0.997832 0 + 5 60 179 0 0 10.893476 137 60 4524 169 ENST00000216075.6 0.035211 1 NCAPH2 29781 __UNKNOWN__ __UNKNOWN__ 22 50960682 50960682 __UNKNOWN__ Splice_Site SNP C C T rs140524 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50960682C>T ENST00000299821.11 + 14 1311 c.e14+2 NCAPH2_ENST00000395701.3_Splice_Site|NCAPH2_ENST00000520297.1_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site Q6IBW4 CNDH2_HUMAN non-SMC condensin II complex, subunit H2 NA NA chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278) chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654) p.?(1) breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1) 24 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) AGGAGGGAGGCAAGTCCCAGC 0.592 NA C||| 1153 0.230232 0.2315 0.2378 5008 , , NA 17582 0.2986 NA 0.1551 False NA ,,, NA NA NA 2504 0.2301 NA NA NA NA 1 Unknown(1) stomach(1) C , 1026,3380 380.9+/-323.9 115,796,1292 76 79 78 , -1.7 0.9 22 dbSNP_78 78 1408,7192 271.7+/-289.7 119,1170,3011 yes splice-5,splice-5 NCAPH2 NM_001185011.1,NM_152299.3 , 234,1966,4303 TT,TC,CC 16.3721,23.2864,18.7144 , , 50960682 2434,10572 2203 4300 6503 SO:0001630 splice_region_variant BC001937 CCDS14094.2, CCDS43038.1, CCDS54546.1 22q13.33 2008-02-04 ENSG00000025770 ENSG00000025770 29781 25071 protein-coding gene gene with protein product kleisin beta, CAP-H2 subunit of the condensin II complex 611230 NA 10493829 Standard NM_152299 NM_014551 NA Approved 384D8-2, hCAP-H2, CAP-H2 uc003blx.4 Q6IBW4 OTTHUMG00000150205 ENST00000299821.11:c.1233+2C>T chr22.hg19:g.50960682C>T NA B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1 hg19 CCDS54546.1 0.02 6.185965 AGGxAAG COVERED 457 0.20924908424908426 108 0.21951219512195122 87 0.24033149171270718 145 0.2534965034965035 117 0.15435356200527706 C 11.97 1.798696 0.31777 0.232864 0.163721 ENSG00000025770 ENST00000420993;ENST00000395701;ENST00000299821 . . . 4.93 -1.73 0.08081 . . . . . . . . . . . 0.09310 P 0.9999999999999993 . . . . . . . . . . . . . . 4.3457 0.11131 0.1726:0.2524:0.0:0.575 rs140524;rs57584715;rs140524 . . . . -1 . . . + . . NCAPH2 49307548 0.036000 0.19791 0.853000 0.33588 0.792000 0.44763 -0.585000 0.05794 0.110000 0.17919 0.591000 0.81541 . NOVEL NCAPH2-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000317016.1 2 15.350343 KEEP 0 0 0 51 1839 CC 1 1 0 Intron + 9 60 313 0 0 20.127664 170 60 6344 274 ENST00000299821.11 0.050279 1 SCO2 9997 __UNKNOWN__ __UNKNOWN__ 22 50964236 50964236 __UNKNOWN__ Intron SNP G G A rs11479 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50964236G>A ENST00000543927.1 - 1 194 SCO2_ENST00000535425.1_Intron|TYMP_ENST00000395680.1_Missense_Mutation_p.S471L|TYMP_ENST00000395678.3_Missense_Mutation_p.S471L|TYMP_ENST00000395681.1_Missense_Mutation_p.S476L|TYMP_ENST00000252029.3_Missense_Mutation_p.S471L NM_001169109.1 NP_001162580.1 O43819 SCO2_HUMAN SCO2 cytochrome c oxidase assembly protein NA NA cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823) mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634) copper ion binding (GO:0005507) endometrium(1)|lung(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCGAAGGGCGAGGGGGCGGC 0.711 NA g||| 715 0.142772 0.0318 0.17 5008 , , NA 10052 0.2937 NA 0.0716 False NA ,,, NA NA NA 2504 0.1912 NA NA NA NA 0 GRCh37 CM073022 TYMP M rs11479 LEU/SER,LEU/SER,,,LEU/SER 183,3979 0,183,1898 8 10 9 1412,1412,,,1412 2.2 1 22 dbSNP_52 9 663,7551 18,627,3462 yes missense,missense,intron,intron,missense TYMP,SCO2 NM_001113755.1,NM_001113756.1,NM_001169109.1,NM_001169110.1,NM_001953.3 145,145,,,145 18,810,5360 AA,AG,GG 8.0716,4.3969,6.8358 probably-damaging,probably-damaging,,,probably-damaging 471/483,471/483,,,471/483 50964236 846,11530 2081 4107 6188 SO:0001627 intron_variant AL021683 CCDS14095.1 22q13.33 2014-01-30 2012-10-15 ENSG00000130489 ENSG00000130489 9997 Mitochondrial respiratory chain complex assembly factors 10604 protein-coding gene gene with protein product 604272 SCO (cytochrome oxidase deficient, yeast) homolog 2, SCO cytochrome oxidase deficient homolog 2 (yeast), myopia 6 MYP6 NA 10218584, 16091356, 23643385 Standard NM_005138 NM_005138 NA Approved SCO1L uc003bma.3 O43819 OTTHUMG00000150251 ENST00000543927.1:c.12+438C>T chr22.hg19:g.50964236G>A NA Q3T1B5|Q9UK87 hg19 CCDS14095.1 0.02 6.596247 GGCxAGG COVERED 278 0.12728937728937728 14 0.028455284552845527 58 0.16022099447513813 144 0.2517482517482518 62 0.08179419525065963 g 8.982 0.975673 0.18736 0.043969 0.080716 ENSG00000025708 ENST00000395680;ENST00000395681;ENST00000252029;ENST00000395678;ENST00000425169 D;D;D;D;D 0.97529 -1.57;-1.57;-1.57;-1.57;-4.42 2.19 2.19 0.27852 Pyrimidine nucleoside phosphorylase, C-terminal (1); 1.178860 0.06499 U 0.735987 T 0.00109 0.0003 N 0.08118 0 0.38307 P 0.05685499999999999 D;D;D 0.59767 0.986;0.986;0.986 B;B;B 0.34991 0.193;0.193;0.193 T 0.63466 -0.6631 9 0.02654 T 1 -7.7224 7.9411 0.29959 0.0:0.0:1.0:0.0 rs11479;rs3202233;rs3829983;rs17846490;rs17859554 471;471;471 B2RBL3;E5KRG5;P19971 .;.;TYPH_HUMAN L 471;476;471;471;438 ENSP00000379037:S471L;ENSP00000379038:S476L;ENSP00000252029:S471L;ENSP00000379036:S471L;ENSP00000395875:S438L ENSP00000252029:S471L S - 2 0 TYMP 49311102 0.000000 0.05858 0.996000 0.52242 0.199000 0.23934 -0.219000 0.09228 1.551000 0.49450 0.298000 0.19748 TCG NOVEL SCO2-202 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317091.1 1 40.363682 KEEP 0 1 28 144 4999 GG 1 1 0 - 9 60 332 0 0 21.765612 181 60 6450 441 ENST00000543927.1 0.047368 1 KLHDC7B 113730 __UNKNOWN__ __UNKNOWN__ 22 50988695 50988695 __UNKNOWN__ 3'UTR SNP T T C rs5770887 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:50988695T>C ENST00000395676.2 + 0 2234 NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B NA NA central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGATGCGTCTCCACAGACAA 0.562 NA c||| 1347 0.26897 0.3381 0.2248 5008 , , NA 17323 0.3036 NA 0.1312 False NA ,,, NA NA NA 2504 0.3129 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC009980 CCDS14097.2 22q13.33 2006-11-29 2005-12-13 ENSG00000130487 ENSG00000130487 113730 25145 protein-coding gene gene with protein product NA Standard NM_138433 NM_138433 NA Approved MGC16635 uc003bmi.3 Q96G42 OTTHUMG00000150250 ENST00000395676.2:c.*315T>C chr22.hg19:g.50988695T>C NA hg19 CCDS14097.2 0.02 5.85771 GTCxCCA COVERED NOVEL KLHDC7B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000317089.2 1 6.319645 KEEP 0 0 0 21 687 TT 0.999869 0.999869 0 + 7 60 239 0 0 14.549041 165 60 5890 221 ENST00000395676.2 0.040698 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ 22 51060340 51060340 __UNKNOWN__ IGR SNP G G C rs28642909 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:51060340G>C NA NA MAPK8IP2 (7931 upstream) : ARSA (841 downstream) NA NA NA aacagcacttgaacataaatt 0.448 NA OREG0026686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) G||| 610 0.121805 0.0477 0.0634 5008 , , NA 21971 0.2649 NA 0.0875 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chr22.hg19:g.51060340G>C 974 hg19 0.02 -0.263205 CTTxAAC COVERED NOVEL 0 0 2.407997 KEEP 0 0 0 8 296 GG 0.99257 0.688515 0 6 60 235 0 0 19.843321 24 60 936 50 0.2 0.693668 SHANK3 85358 __UNKNOWN__ __UNKNOWN__ 22 51121730 51121730 __UNKNOWN__ Intron SNP C C T rs143896169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:51121730C>T ENST00000414786.2 + 8 1112 SHANK3_ENST00000445220.2_Intron|SHANK3_ENST00000262795.3_Intron Q9BYB0 SHAN3_HUMAN SH3 and multiple ankyrin repeat domains 3 NA NA adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625) cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GATGGTCTCTCCAGCCACCCA 0.582 NA C||| 37 0.00738818 0.0008 0.0014 5008 , , NA 23261 0.0347 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 4,4318 0,4,2157 44 50 48 -0.8 0 22 dbSNP_134 48 0,8486 0,0,4243 no intron SHANK3 NM_001080420.1 0,4,6400 TT,TC,CC 0.0,0.0925,0.0312 51121730 4,12804 2161 4243 6404 SO:0001627 intron_variant AB051437 22q13.3 2013-11-14 ENSG00000251322 ENSG00000251322 85358 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 14294 protein-coding gene gene with protein product proline rich synapse associated protein 2, shank postsynaptic density protein 606230 NA 11258795, 11431708, 10806096, 17173049 Standard NM_001080420 NM_033517 NA Approved SPANK-2, prosap2, KIAA1650, PSAP2 uc031ryd.1 Q9BYB0 OTTHUMG00000150169 ENST00000414786.2:c.886-38C>T chr22.hg19:g.51121730C>T NA D7UT47|Q8TET3 hg19 0.02 4.562956 TCTxCAG COVERED NOVEL SHANK3-001 KNOWN non_canonical_polymorphism|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000316674.2 0 9.931847 KEEP 0 0 0 33 1158 CC 0.999998 0.999979 0 + 9 60 315 0 0 22.499739 95 60 3601 163 ENST00000414786.2 0.086538 0.999981 SHANK3 85358 __UNKNOWN__ __UNKNOWN__ 22 51123101 51123101 __UNKNOWN__ Intron SNP G G A rs139076185 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:51123101G>A ENST00000414786.2 + 9 1257 SHANK3_ENST00000445220.2_Intron|SHANK3_ENST00000262795.3_Intron Q9BYB0 SHAN3_HUMAN SH3 and multiple ankyrin repeat domains 3 NA NA adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625) cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCACCTGGGCGACCCTGCTGA 0.557 NA G||| 62 0.0123802 0.0008 0.0 5008 , , NA 19711 0.0595 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 4,3872 0,4,1934 66 66 66 1.7 0 22 dbSNP_134 66 0,8274 0,0,4137 no intron SHANK3 NM_001080420.1 0,4,6071 AA,AG,GG 0.0,0.1032,0.0329 51123101 4,12146 1938 4137 6075 SO:0001627 intron_variant AB051437 22q13.3 2013-11-14 ENSG00000251322 ENSG00000251322 85358 Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing 14294 protein-coding gene gene with protein product proline rich synapse associated protein 2, shank postsynaptic density protein 606230 NA 11258795, 11431708, 10806096, 17173049 Standard NM_001080420 NM_033517 NA Approved SPANK-2, prosap2, KIAA1650, PSAP2 uc031ryd.1 Q9BYB0 OTTHUMG00000150169 ENST00000414786.2:c.1030+22G>A chr22.hg19:g.51123101G>A NA D7UT47|Q8TET3 hg19 0.02 4.032997 GGCxACC COVERED NOVEL SHANK3-001 KNOWN non_canonical_polymorphism|basic|appris_candidate protein_coding NA protein_coding OTTHUMT00000316674.2 1 8.426924 KEEP 0 0 0 28 953 GG 0.999997 0.999997 0 + 7 60 258 0 0 17.036951 135 60 4724 226 ENST00000414786.2 0.049296 1 RABL2B 11158 __UNKNOWN__ __UNKNOWN__ 22 51206413 51206413 __UNKNOWN__ 3'UTR SNP T T A rs3888556 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:51206413T>A ENST00000395595.3 - 0 1948 RABL2B_ENST00000395598.3_3'UTR|RABL2B_ENST00000354869.3_3'UTR|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Intron|RABL2B_ENST00000395591.1_3'UTR|RABL2B_ENST00000395593.3_3'UTR NM_001130921.1 NP_001124393.1 Q9UNT1 RBL2B_HUMAN RAB, member of RAS oncogene family-like 2B NA NA GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) GTP binding (GO:0005525)|GTPase activity (GO:0003924) lung(1) 1 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247) ccgggcgcggtggctcatgcc 0.527 NA T||| 704 0.140575 0.0726 0.1182 5008 , , NA 18274 0.1518 NA 0.2406 False NA ,,, NA NA NA 2504 0.1339 NA NA NA GBM(148;358 1894 4987 13698 40400) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14102.1, CCDS33683.1, CCDS46738.1 22q13.33 2014-05-09 ENSG00000079974 ENSG00000079974 11158 RAB, member RAS oncogene 9800 protein-coding gene gene with protein product 605413 NA 10444334 Standard NM_001003789 NM_001130919 NA Approved uc011asg.1 Q9UNT1 OTTHUMG00000150156 ENST00000395595.3:c.*791A>T chr22.hg19:g.51206413T>A NA Q5TZT8|Q96C33 hg19 CCDS33683.1 0.02 14.05002 CGGxGGC COVERED NOVEL RABL2B-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316611.1 16 18.188557 KEEP 31 1 33 72 2231 TT 1 1 0 - 11 60 425 0 0 27.208574 293 60 10545 450 ENST00000395595.3 0.036184 1 RABL2B 11158 __UNKNOWN__ __UNKNOWN__ 22 51206426 51206426 __UNKNOWN__ 3'UTR SNP T T C rs3888555 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chr22:51206426T>C ENST00000395595.3 - 0 1935 RABL2B_ENST00000395598.3_3'UTR|RABL2B_ENST00000354869.3_3'UTR|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000435118.1_Intron|RABL2B_ENST00000395591.1_3'UTR|RABL2B_ENST00000395593.3_3'UTR NM_001130921.1 NP_001124393.1 Q9UNT1 RBL2B_HUMAN RAB, member of RAS oncogene family-like 2B NA NA GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264) GTP binding (GO:0005525)|GTPase activity (GO:0003924) lung(1) 1 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247) ctcatgcctgtaatcccagca 0.507 NA T||| 842 0.168131 0.1657 0.1354 5008 , , NA 18125 0.1518 NA 0.2445 False NA ,,, NA NA NA 2504 0.1329 NA NA NA GBM(148;358 1894 4987 13698 40400) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14102.1, CCDS33683.1, CCDS46738.1 22q13.33 2014-05-09 ENSG00000079974 ENSG00000079974 11158 RAB, member RAS oncogene 9800 protein-coding gene gene with protein product 605413 NA 10444334 Standard NM_001003789 NM_001130919 NA Approved uc011asg.1 Q9UNT1 OTTHUMG00000150156 ENST00000395595.3:c.*778A>G chr22.hg19:g.51206426T>C NA Q5TZT8|Q96C33 hg19 CCDS33683.1 0.02 11.756929 CTGxAAT COVERED NOVEL RABL2B-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000316611.1 15 10.298274 KEEP 30 2 74 60 1815 TT 1 1 0 - 8 49 316 0 0 19.946751 249 60 8813 379 ENST00000395595.3 0.031128 1 XG 7499 __UNKNOWN__ __UNKNOWN__ X 2732634 2732634 __UNKNOWN__ 3'UTR SNP G G A rs12851007 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:2732634G>A ENST00000381174.5 + 0 981 XG_ENST00000426774.1_3'UTR P55808 XG_HUMAN Xg blood group NA NA integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TAGACCCTGCGTTCTAAAAAA 0.413 NA .||| 606 0.16053 0.2027 0.098 3775 , , NA 15959 0.1369 NA 0.0457 False NA ,,, NA NA NA 2504 0.0879 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF380356 CCDS14120.1, CCDS48073.1 Xp22.32 2014-07-19 2006-01-12 ENSG00000124343 ENSG00000124343 7499 Blood group antigens, Pseudoautosomal regions / PAR1 12806 protein-coding gene gene with protein product 300879 Xg blood group (pseudoautosomal boundary-divided on the X chromosome) PBDX NA 8054981 Standard NM_175569 NM_175569 NA Approved uc004cqp.3 P55808 OTTHUMG00000021075 ENST00000381174.5:c.*213G>A chrX.hg19:g.2732634G>A NA E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5 hg19 CCDS14120.1 0.02 10.249706 TGCxTTC COVERED NOVEL XG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000055633.2 0 2.643227 KEEP 0 1 32 20 694 GG 0.999869 0.999869 0 + 13 60 435 0 0 26.79959 271 60 9899 328 ENST00000381174.5 0.045775 1 XG 7499 __UNKNOWN__ __UNKNOWN__ X 2733109 2733109 __UNKNOWN__ 3'UTR SNP T T G rs5939124 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:2733109T>G ENST00000381174.5 + 0 1456 XG_ENST00000426774.1_3'UTR P55808 XG_HUMAN Xg blood group NA NA integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCCTAGGAAATCATATGGTTG 0.358 NA .||| 2636 0.698278 0.5121 0.415 3775 , , NA 14409 0.5615 NA 0.6093 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF380356 CCDS14120.1, CCDS48073.1 Xp22.32 2014-07-19 2006-01-12 ENSG00000124343 ENSG00000124343 7499 Blood group antigens, Pseudoautosomal regions / PAR1 12806 protein-coding gene gene with protein product 300879 Xg blood group (pseudoautosomal boundary-divided on the X chromosome) PBDX NA 8054981 Standard NM_175569 NM_175569 NA Approved uc004cqp.3 P55808 OTTHUMG00000021075 ENST00000381174.5:c.*688T>G chrX.hg19:g.2733109T>G NA E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5 hg19 CCDS14120.1 0.02 38.941665 AAAxCAT COVERED NOVEL XG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000055633.2 6 17.02225 KEEP 0 2 73 82 2613 TT 1 1 0 + 40 60 1535 0 0 103.306327 776 60 28888 1101 ENST00000381174.5 0.04902 1 XG 7499 __UNKNOWN__ __UNKNOWN__ X 2733210 2733210 __UNKNOWN__ 3'UTR SNP G G A rs5939125 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:2733210G>A ENST00000381174.5 + 0 1557 XG_ENST00000426774.1_3'UTR P55808 XG_HUMAN Xg blood group NA NA integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTCTGTAAGTGCTAGTTCCTA 0.373 NA .||| 2615 0.692715 0.5106 0.4092 3775 , , NA 13700 0.5605 NA 0.6083 False NA ,,, NA NA NA 2504 0.4898 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF380356 CCDS14120.1, CCDS48073.1 Xp22.32 2014-07-19 2006-01-12 ENSG00000124343 ENSG00000124343 7499 Blood group antigens, Pseudoautosomal regions / PAR1 12806 protein-coding gene gene with protein product 300879 Xg blood group (pseudoautosomal boundary-divided on the X chromosome) PBDX NA 8054981 Standard NM_175569 NM_175569 NA Approved uc004cqp.3 P55808 OTTHUMG00000021075 ENST00000381174.5:c.*789G>A chrX.hg19:g.2733210G>A NA E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5 hg19 CCDS14120.1 0.02 20.104414 AGTxCTA COVERED NOVEL XG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000055633.2 3 9.028943 KEEP 0 0 0 30 1058 GG 0.999997 0.999997 0 + 30 60 1047 0 0 69.175786 492 60 18436 576 ENST00000381174.5 0.057471 1 XG 7499 __UNKNOWN__ __UNKNOWN__ X 2733668 2733668 __UNKNOWN__ 3'UTR SNP G G A rs3671 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:2733668G>A ENST00000381174.5 + 0 2015 XG_ENST00000426774.1_3'UTR P55808 XG_HUMAN Xg blood group NA NA integral component of plasma membrane (GO:0005887) endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CATTTGTGCAGTTTGAAGATA 0.393 NA .||| 2727 0.722384 0.5098 0.4323 3775 , , NA 11914 0.6131 NA 0.6223 False NA ,,, NA NA NA 2504 0.5204 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF380356 CCDS14120.1, CCDS48073.1 Xp22.32 2014-07-19 2006-01-12 ENSG00000124343 ENSG00000124343 7499 Blood group antigens, Pseudoautosomal regions / PAR1 12806 protein-coding gene gene with protein product 300879 Xg blood group (pseudoautosomal boundary-divided on the X chromosome) PBDX NA 8054981 Standard NM_175569 NM_175569 NA Approved uc004cqp.3 P55808 OTTHUMG00000021075 ENST00000381174.5:c.*1247G>A chrX.hg19:g.2733668G>A NA E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5 hg19 CCDS14120.1 0.02 9.250756 GCAxTTT COVERED NOVEL XG-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000055633.2 3 5.116647 KEEP 0 0 0 17 598 GG 0.999366 0.999366 0 + 22 60 812 0 0 60.287094 206 60 7541 263 ENST00000381174.5 0.096491 1 MXRA5 25878 __UNKNOWN__ __UNKNOWN__ X 3228663 3228663 __UNKNOWN__ Silent SNP G G C rs1635234 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:3228663G>C ENST00000217939.6 - 7 7735 c.7581C>G c.(7579-7581)gcC>gcG p.A2527A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2527 Ig-like C2-type 9. NA extracellular vesicular exosome (GO:0070062) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGATCAACCTGGCCTCCCCTC 0.597 NA G||| 1905 0.504636 0.4327 0.3689 3775 , , NA 7709 0.4335 NA 0.335 False NA ,,, NA NA NA 2504 0.3098 NA NA NA NA 0 31 34 33 NA NA X NA 3228663 1611 2761 4372 SO:0001819 synonymous_variant AF245505 CCDS14124.1 Xp22.33 2013-01-29 ENSG00000101825 ENSG00000101825 25878 Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing 7539 protein-coding gene gene with protein product adlican NA 12101425 Standard NM_015419 NM_015419 NA Approved DKFZp564I1922 uc004crg.4 Q9NR99 OTTHUMG00000021083 ENST00000217939.6:c.7581C>G chrX.hg19:g.3228663G>C NA Q6P1M7|Q9Y3Y8 hg19 CCDS14124.1 0.02 2.269974 CCTxGCC COVERED NOVEL MXRA5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055655.2 1 3.009779 KEEP 1 0 0 10 355 GG 0.992708 0.978962 0 - 4 27 140 0 0 9.559346 55 60 2043 85 ENST00000217939.6 0.067797 0.986153 PRKX 5613 __UNKNOWN__ __UNKNOWN__ X 3631167 3631167 __UNKNOWN__ Missense_Mutation SNP A A G rs3752362 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:3631167A>G ENST00000262848.5 - 1 482 c.128T>C c.(127-129)gTg>gCg p.V43A NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 43 NA V -> A (in dbSNP:rs3752362). angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691) kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) CAGGCTGTACACAGGCGGCTC 0.751 NA N||| 2672 0.707815 0.736 0.4856 3775 , , NA 7851 0.6944 NA 0.2644 False NA ,,, NA NA NA 2504 0.4049 NA NA NA NA 0 G ALA/VAL 3226,436 1253,279,441,50,57 6 5 6 128 -0.4 0 X dbSNP_107 6 2368,4079 373,1000,622,979,1121 yes missense PRKX NM_005044.4 64 1626,1279,1063,1029,1178 GG,GA,G,AA,A 36.7303,11.9061,44.6632 benign 43/359 3631167 5594,4515 2080 4095 6175 SO:0001583 missense CCDS14125.1 Xp22.3 2008-08-01 ENSG00000183943 ENSG00000183943 5613 2.7.11.1 9441 protein-coding gene gene with protein product 300083 NA 7633447 Standard NM_005044 NM_005044 NA Approved PKX1 uc010nde.3 P51817 OTTHUMG00000021087 ENST00000262848.5:c.128T>C chrX.hg19:g.3631167A>G ENSP00000262848:p.Val43Ala NA hg19 CCDS14125.1 0.02 6.750775 TACxCAG COVERED 1097 0.6612417118746232 255 0.8673469387755102 120 0.47619047619047616 261 0.8474025974025974 133 0.20336391437308868 G 2.016 -0.425905 0.04701 0.880939 0.367303 ENSG00000183943 ENST00000262848 T 0.07908 3.15 1.08 -0.453 0.12201 Protein kinase-like domain (1); 0.957488 0.08497 N 0.937090 T 0.00012 0.0000 N 0.02539 -0.55 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.07908 -1.0748 9 0.38643 T 0.18 . 1.5859 0.02644 0.284:0.0:0.3851:0.3309 rs3752362;rs57248025 43 P51817 PRKX_HUMAN A 43 ENSP00000262848:V43A ENSP00000262848:V43A V - 2 0 PRKX 3641167 0.007000 0.16637 0.001000 0.08648 0.016000 0.09150 -0.380000 0.07427 -0.338000 0.08413 -0.697000 0.03683 GTG NOVEL PRKX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055659.1 1 33.089842 KEEP 0 0 0 110 3317 AA 1 1 0 - 6 60 226 0 0 14.338459 155 60 5543 368 ENST00000262848.5 0.037267 1 VCX3A 51481 __UNKNOWN__ __UNKNOWN__ X 6451872 6451872 __UNKNOWN__ Missense_Mutation SNP C C G rs77148209 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:6451872C>G ENST00000381089.3 - 3 781 c.475G>C c.(475-477)Gag>Cag p.E159Q VCX3A_ENST00000398729.1_Missense_Mutation_p.E139Q NM_016379.3 NP_057463.2 Q9NNX9 VCX3_HUMAN variable charge, X-linked 3A 159 8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. NA brain development (GO:0007420) nucleolus (GO:0005730)|nucleus (GO:0005634) p.E159Q(1) NS(1)|lung(2)|pancreas(1) 4 TCCTCCACCTCGCTCTCCTGA 0.582 NA c||| 748 0.198146 0.2935 0.0562 3775 , , NA 12584 0.1508 NA 0.0984 False NA ,,, NA NA NA 2504 0.0716 NA NA NA NA 1 Substitution - Missense(1) NS(1) C GLN/GLU 761,3006 16,603,126,994,415 62 66 64 475 -1 0 X dbSNP_134 64 289,6328 0,233,56,2178,1739 no missense VCX3A NM_016379.3 29 16,836,182,3172,2154 GG,GC,G,CC,C 4.3675,20.2018,10.1117 benign 159/187 6451872 1050,9334 2154 4206 6360 SO:0001583 missense AF159128 CCDS35199.1 Xp22.31 2008-02-05 2005-01-11 2005-01-12 ENSG00000169059 ENSG00000169059 51481 18159 protein-coding gene gene with protein product 300533 variable charge, X-linked 3 VCX3 NA 10607842 Standard NM_016379 NM_016379 NA Approved VCX-8r, VCX-8R, VCX-A uc004crs.3 Q9NNX9 OTTHUMG00000021097 ENST00000381089.3:c.475G>C chrX.hg19:g.6451872C>G ENSP00000370479:p.Glu159Gln NA Q9P0H4 hg19 CCDS35199.1 0.02 -0.28945 CCTxGCT UNCOVERED . . . . . . . . . . - 0.009 -1.855340 0.00558 0.202018 0.043675 ENSG00000169059 ENST00000381089;ENST00000398729 T;T 0.15952 2.38;2.38 0.511 -1.02 0.10135 . . . . . T 0.00012 0.0000 N 0.02011 -0.69 0.80722 P 0.0 B 0.18166 0.026 B 0.09377 0.004 T 0.40079 -0.9582 8 0.13470 T 0.59 . 3.3799 0.07251 0.0:0.4906:0.2639:0.2455 . 159 Q9NNX9 VCX3_HUMAN Q 159;139 ENSP00000370479:E159Q;ENSP00000381713:E139Q ENSP00000370479:E159Q E - 1 0 VCX3A 6461872 0.000000 0.05858 0.001000 0.08648 0.007000 0.05969 -0.770000 0.04705 -1.689000 0.01434 -1.304000 0.01323 GAG NOVEL VCX3A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055679.1 0 2.406884 KEEP 19 0 0 8 249 CC 0 0 0 - 3 60 105 0 0 7.743753 26 60 877 61 ENST00000381089.3 0.103448 0.760887 STS 412 __UNKNOWN__ __UNKNOWN__ X 7243304 7243304 __UNKNOWN__ Intron SNP G G A rs4403552 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:7243304G>A ENST00000217961.4 + 8 1316 NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S NA NA cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886) metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Norelgestromin(DB06713) CATTGAGCACGAAAGAGTCCA 0.358 NA Ichthyosis G||| 975 0.258278 0.18 0.1527 3775 , , NA 16630 0.3036 NA 0.1779 False NA ,,, NA NA NA 2504 0.1493 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris M16505 CCDS14127.1 Xp22.32 2013-06-10 2007-07-19 ENSG00000101846 ENSG00000101846 412 3.1.6.2 Arylsulfatase family 11425 protein-coding gene gene with protein product arylsulfatase C 300747 steroid sulfatase (microsomal), arylsulfatase C, isozyme S ARSC1 NA Standard NM_000351 NM_000351 NA Approved ARSC uc004cry.4 P08842 OTTHUMG00000021102 ENST00000217961.4:c.1097-76G>A chrX.hg19:g.7243304G>A NA B2RA47 hg19 CCDS14127.1 0.02 6.41999 CACxAAA COVERED NOVEL STS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055686.1 0 4.193158 KEEP 0 0 0 14 453 GG 0.995343 0.995343 0 + 6 60 227 0 0 14.217587 169 60 5655 226 ENST00000217961.4 0.034286 1 VCX 26609 __UNKNOWN__ __UNKNOWN__ X 7812065 7812065 __UNKNOWN__ 3'UTR SNP A A G rs28506890 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:7812065A>G ENST00000381059.3 + 0 848 NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked NA NA chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283) nucleolus (GO:0005730)|nucleus (GO:0005634) chromatin binding (GO:0003682) NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) TAGACGGCCAAGTACTCCCCT 0.552 NA NA NA NA NA NA NA NA NA NA NA 0 93 85 88 NA NA X NA 7812065 1948 3816 5764 SO:0001624 3_prime_UTR_variant AF167081 CCDS14128.1 Xp22.31 2008-02-05 2003-09-12 ENSG00000182583 ENSG00000182583 26609 12667 protein-coding gene gene with protein product 300229 variable charge, X chromosome NA 10607842, 10903929 Standard NM_013452 NM_013452 NA Approved VCX1, VCX10R, VCX-10r, VCX-B1 uc004crz.3 Q9H320 OTTHUMG00000028608 ENST00000381059.3:c.*8A>G chrX.hg19:g.7812065A>G NA A0JNS5|Q4V774|Q9P0H3 hg19 CCDS14128.1 0.02 4.510304 CCAxGTA COVERED NOVEL VCX-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000071474.1 0 3.912127 KEEP 5 0 0 13 418 AA 0.993634 0.993626 0 + 5 25 186 0 0 12.601543 85 60 3133 166 ENST00000381059.3 0.055556 0.999993 VCX3B 425054 __UNKNOWN__ __UNKNOWN__ X 8434448 8434448 __UNKNOWN__ 3'UTR SNP C C T rs112103242 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:8434448C>T ENST00000381032.1 + 0 1072 VCX3B_ENST00000453306.1_3'UTR|VCX3B_ENST00000381029.4_3'UTR|VCX3B_ENST00000440654.2_3'UTR NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B NA NA nucleolus (GO:0005730)|nucleus (GO:0005634) NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 CCCCTATCTCCGAGAGCAGCG 0.517 NA NA NA NA NA NA NA NA NA NA NA 0 42 86 71 NA NA X NA 8434448 2084 4109 6193 SO:0001624 3_prime_UTR_variant CCDS48077.1, CCDS48077.2 Xp22.31 2009-01-14 ENSG00000205642 ENSG00000205642 425054 31838 protein-coding gene gene with protein product NA Standard NM_001001888 NA Approved VCX-C uc011mht.2 Q9H321 OTTHUMG00000021106 ENST00000381032.1:c.*24C>T chrX.hg19:g.8434448C>T NA C9JS46|Q4KN12 hg19 CCDS48077.2 0.02 2.452233 CTCxGAG COVERED NOVEL VCX3B-001 NOVEL basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055691.1 0 4.514705 KEEP 9 0 0 15 527 CC 0.995343 0.984934 0 + 7 24 257 0 0 19.709514 52 60 1822 116 ENST00000381032.1 0.118644 0.989542 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 9373892 9373892 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:9373892C>G NA NA GS1-519E5.1 (130646 upstream) : TBL1X (57442 downstream) NA NA NA TGCTTGCAAGCAGGACCGGGA 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.9373892C>G NA hg19 0.02 2.129578 AAGxAGG COVERED NOVEL 0 0 8.126645 KEEP 1 0 0 27 971 CC 0.999988 0.998453 0 5 60 185 0 0 13.032733 66 60 2593 136 0.070423 0.998465 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 9374898 9374898 __UNKNOWN__ IGR SNP C C A rs76677258 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:9374898C>A NA NA GS1-519E5.1 (131652 upstream) : TBL1X (56436 downstream) NA NA NA TCCATTCTCACAGCCTGAAAC 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.9374898C>A NA hg19 0.02 -0.219335 TCAxAGC UNCOVERED NOVEL 0 0 3.009863 KEEP 8 0 0 10 358 CC 0 0 0 3 25 114 0 0 8.847921 22 60 850 50 0.12 0.552887 TBL1X 6907 __UNKNOWN__ __UNKNOWN__ X 9677599 9677599 __UNKNOWN__ Intron SNP G G A rs1006912 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:9677599G>A ENST00000380961.1 + 15 1635 TBL1X_ENST00000407597.2_Intron|TBL1X_ENST00000424279.1_Intron|TBL1X_ENST00000536365.1_Intron|TBL1X_ENST00000217964.7_Intron NM_001139468.1 NP_001132940.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked NA NA canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GTGCACCCCCGGGAGGAATGA 0.567 NA OREG0019658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) g||| 1733 0.459073 0.4418 0.4496 3775 , , NA 12609 0.4643 NA 0.2237 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y12781 CCDS14133.1, CCDS48078.1 Xp22.3 2013-01-10 2002-05-22 2002-05-24 ENSG00000101849 ENSG00000101849 6907 WD repeat domain containing 11585 protein-coding gene gene with protein product 300196 transducin (beta)-like 1 TBL1 NA 10330347 Standard NM_005647 NM_005647 NA Approved EBI uc004csr.3 O60907 OTTHUMG00000021117 ENST00000380961.1:c.1159-74G>A chrX.hg19:g.9677599G>A 658 A8K044|A8K4J7|Q86UY2 hg19 CCDS48078.1 0.02 2.282133 CCCxGGA COVERED NOVEL TBL1X-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055708.1 1 3.310748 KEEP 0 0 0 11 387 GG 0.993072 0.989331 0 + 4 60 152 0 0 10.477201 65 60 2277 89 ENST00000380961.1 0.057971 0.996233 TBL1X 6907 __UNKNOWN__ __UNKNOWN__ X 9684778 9684778 __UNKNOWN__ 3'UTR SNP G G A rs6638955 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:9684778G>A ENST00000380961.1 + 0 2550 TBL1X_ENST00000407597.2_3'UTR|TBL1X_ENST00000424279.1_3'UTR|TBL1X_ENST00000217964.7_3'UTR NM_001139468.1 NP_001132940.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked NA NA canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053) beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) AGTTTGTACCGATGAAACGCG 0.398 NA G||| 787 0.208477 0.0401 0.2305 3775 , , NA 13345 0.4663 NA 0.0169 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Y12781 CCDS14133.1, CCDS48078.1 Xp22.3 2013-01-10 2002-05-22 2002-05-24 ENSG00000101849 ENSG00000101849 6907 WD repeat domain containing 11585 protein-coding gene gene with protein product 300196 transducin (beta)-like 1 TBL1 NA 10330347 Standard NM_005647 NM_005647 NA Approved EBI uc004csr.3 O60907 OTTHUMG00000021117 ENST00000380961.1:c.*492G>A chrX.hg19:g.9684778G>A NA A8K044|A8K4J7|Q86UY2 hg19 CCDS48078.1 0.02 6.365638 ACCxATG COVERED NOVEL TBL1X-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055708.1 3 6.621194 KEEP 0 0 0 22 754 GG 0.999879 0.999879 0 + 7 60 258 0 0 16.456607 164 60 5751 242 ENST00000380961.1 0.040936 1 GPR143 4935 __UNKNOWN__ __UNKNOWN__ X 9693652 9693652 __UNKNOWN__ 3'UTR SNP G G A rs3044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:9693652G>A ENST00000467482.1 - 0 1495 GPR143_ENST00000380929.2_3'UTR P51810 GP143_HUMAN G protein-coupled receptor 143 NA NA calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886) dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545) endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Hepatocellular(5;0.000888) AGAAGCTCTAGCTGGTGATGA 0.517 NA A||| 1793 0.474967 0.6172 0.3674 3775 , , NA 13988 0.4613 NA 0.1531 False NA ,,, NA NA NA 2504 0.1053 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant Z48804 CCDS14134.1, CCDS14134.2 Xp22.3 2013-09-27 2003-12-01 ENSG00000101850 ENSG00000101850 4935 GPCR / Unclassified : 7TM orphan receptors 20145 protein-coding gene gene with protein product ocular albinism 1 300808 ocular albinism 1 (Nettleship-Falls) OA1 NA 7647783, 10471510 Standard NM_000273 NM_000273 NA Approved uc004cst.2 P51810 OTTHUMG00000021118 ENST00000467482.1:c.*134C>T chrX.hg19:g.9693652G>A NA Q6NTI7 hg19 CCDS14134.2 0.02 7.963018 CTAxCTG COVERED NOVEL GPR143-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055714.2 3 6.019601 KEEP 0 0 0 20 714 GG 0.999863 0.999863 0 - 8 60 283 0 0 17.108175 218 60 8101 261 ENST00000467482.1 0.035398 1 WWC3 55841 __UNKNOWN__ __UNKNOWN__ X 10086192 10086192 __UNKNOWN__ Intron SNP A A G rs4830696 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:10086192A>G ENST00000380861.4 + 11 2021 WWC3_ENST00000454666.1_Intron NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 NA NA negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytosol (GO:0005829) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947) NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGTTTCCAAGAACATAGGTCT 0.348 NA a||| 487 0.129007 0.0023 0.1052 3775 , , NA 16033 0.374 NA 0.0179 False NA ,,, NA NA NA 2504 0.0164 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091936 CCDS14136.1 Xp22.32 2008-02-05 ENSG00000047644 ENSG00000047644 55841 WW, C2 and coiled-coil domain containing 29237 protein-coding gene gene with protein product NA 10574462 Standard NM_015691 NM_015691 NA Approved KIAA1280, BM042 uc004csx.4 Q9ULE0 OTTHUMG00000021123 ENST00000380861.4:c.1630+463A>G chrX.hg19:g.10086192A>G NA A8KA96|Q659C1|Q9BTQ1 hg19 CCDS14136.1 0.02 7.979069 AAGxACA COVERED NOVEL WWC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055725.1 0 18.952457 KEEP 0 0 0 63 1917 AA 1 1 0 + 10 60 358 0 0 22.812413 215 60 7753 326 ENST00000380861.4 0.044444 1 WWC3 55841 __UNKNOWN__ __UNKNOWN__ X 10093298 10093298 __UNKNOWN__ Intron SNP T T C rs2285493 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:10093298T>C ENST00000380861.4 + 14 2304 WWC3_ENST00000454666.1_Intron NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 NA NA negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytosol (GO:0005829) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947) NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GATTTGAGGCTGGTGAAGGTG 0.547 NA C||| 2127 0.563444 0.3714 0.3458 3775 , , NA 14391 0.7083 NA 0.2406 False NA ,,, NA NA NA 2504 0.4499 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091936 CCDS14136.1 Xp22.32 2008-02-05 ENSG00000047644 ENSG00000047644 55841 WW, C2 and coiled-coil domain containing 29237 protein-coding gene gene with protein product NA 10574462 Standard NM_015691 NM_015691 NA Approved KIAA1280, BM042 uc004csx.4 Q9ULE0 OTTHUMG00000021123 ENST00000380861.4:c.1913+148T>C chrX.hg19:g.10093298T>C NA A8KA96|Q659C1|Q9BTQ1 hg19 CCDS14136.1 0.02 1.716225 GGCxGGT COVERED NOVEL WWC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055725.1 0 3.009195 KEEP 0 0 0 10 313 TT 0.992708 0.992477 0 + 8 60 269 0 0 19.078425 80 60 2929 104 ENST00000380861.4 0.090909 0.999768 WWC3 55841 __UNKNOWN__ __UNKNOWN__ X 10104585 10104585 __UNKNOWN__ Intron SNP G G T rs4830697 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:10104585G>T ENST00000380861.4 + 20 3154 WWC3_ENST00000454666.1_Intron NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 NA NA negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytosol (GO:0005829) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947) NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGGATGAAAAGAATCCATTCT 0.388 NA T||| 2204 0.583841 0.4508 0.3329 3775 , , NA 14758 0.7083 NA 0.2187 False NA ,,, NA NA NA 2504 0.453 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK091936 CCDS14136.1 Xp22.32 2008-02-05 ENSG00000047644 ENSG00000047644 55841 WW, C2 and coiled-coil domain containing 29237 protein-coding gene gene with protein product NA 10574462 Standard NM_015691 NM_015691 NA Approved KIAA1280, BM042 uc004csx.4 Q9ULE0 OTTHUMG00000021123 ENST00000380861.4:c.2764-88G>T chrX.hg19:g.10104585G>T NA A8KA96|Q659C1|Q9BTQ1 hg19 CCDS14136.1 0.02 4.510278 AAAxAAT COVERED NOVEL WWC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055725.1 1 4.815803 KEEP 0 0 0 16 576 GG 0.997832 0.997824 0 + 5 60 192 0 0 12.754198 105 60 4055 155 ENST00000380861.4 0.045455 0.999993 WWC3 55841 __UNKNOWN__ __UNKNOWN__ X 10110469 10110469 __UNKNOWN__ 3'UTR SNP A A T rs3747449 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:10110469A>T ENST00000380861.4 + 0 4598 NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 NA NA negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122) cytosol (GO:0005829) kinase binding (GO:0019900)|protein complex scaffold (GO:0032947) NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGGAATGCCCACGCTCGTTGA 0.532 NA A||| 1053 0.27894 0.0061 0.2795 3775 , , NA 14925 0.6101 NA 0.0437 False NA ,,, NA NA NA 2504 0.1963 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK091936 CCDS14136.1 Xp22.32 2008-02-05 ENSG00000047644 ENSG00000047644 55841 WW, C2 and coiled-coil domain containing 29237 protein-coding gene gene with protein product NA 10574462 Standard NM_015691 NM_015691 NA Approved KIAA1280, BM042 uc004csx.4 Q9ULE0 OTTHUMG00000021123 ENST00000380861.4:c.*928A>T chrX.hg19:g.10110469A>T NA A8KA96|Q659C1|Q9BTQ1 hg19 CCDS14136.1 0.02 14.232489 CCCxCGC COVERED NOVEL WWC3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055725.1 1 15.644061 KEEP 0 0 0 52 1592 AA 1 1 0 + 13 60 490 0 0 31.854826 293 60 10377 440 ENST00000380861.4 0.042484 1 ARHGAP6 395 __UNKNOWN__ __UNKNOWN__ X 11284192 11284192 __UNKNOWN__ Intron SNP T T A rs28692997 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:11284192T>A ENST00000337414.4 - 2 1461 ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 NA NA actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829) phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070) cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 tgtgtgtgtgtgagagagaga 0.493 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF012272 CCDS14140.1, CCDS14141.1, CCDS14142.1 Xp22.3 2008-02-05 ENSG00000047648 ENSG00000047648 395 Rho GTPase activating proteins 676 protein-coding gene gene with protein product 300118 NA 9417914 Standard NM_013427 XM_005274507 NA Approved rhoGAPX-1 uc004cup.1 O43182 OTTHUMG00000021134 ENST00000337414.4:c.589-11365A>T chrX.hg19:g.11284192T>A NA B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82 hg19 CCDS14140.1 0.02 2.414085 GTGxGAG COVERED NOVEL ARHGAP6-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055760.2 1 2.405557 KEEP 0 0 0 8 223 TT 0.99257 0.966729 0 - 5 60 192 1 0 14.484195 46 60 1550 63 ENST00000337414.4 0.098039 0.973965 PRPS2 5634 __UNKNOWN__ __UNKNOWN__ X 12840812 12840812 __UNKNOWN__ Intron SNP T T C rs16998972 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12840812T>C ENST00000398491.2 + 7 965 PRPS2_ENST00000380668.5_Intron P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 NA NA 5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100) extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189) ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 GTTTTTCTCATTGGCATTTAG 0.438 NA T||| 148 0.0392053 0.1082 0.0058 3775 , , NA 16136 0.0 NA 0.001 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 T , 513,3322 29,370,85,1233,486 145 99 115 , 1.3 0 X dbSNP_123 115 4,6724 0,3,1,2425,1871 no intron,intron PRPS2 NM_001039091.2,NM_002765.4 , 29,373,86,3658,2357 CC,CT,C,TT,T 0.0595,13.3768,4.8944 , , 12840812 517,10046 2203 4300 6503 SO:0001627 intron_variant Y00971 CCDS14150.1, CCDS43918.1 Xp22.2 2012-10-02 ENSG00000101911 ENSG00000101911 5634 2.7.6.1 9465 protein-coding gene gene with protein product PRS II, ribose-phosphate diphosphokinase 2 311860 NA 1962753 Standard NM_002765 NM_002765 NA Approved uc004cva.3 P11908 OTTHUMG00000021139 ENST00000398491.2:c.874-11T>C chrX.hg19:g.12840812T>C NA Q0VDH9|Q0VDI0|Q15245|Q2TAK7 hg19 CCDS43918.1 0.02 21.088561 TCAxTGG COVERED NOVEL PRPS2-004 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000354798.1 4 15.94675 KEEP 0 0 0 53 1647 TT 1 1 0 + 15 60 582 1 0 36.717372 441 60 16057 573 ENST00000398491.2 0.032895 1 TLR7 51284 __UNKNOWN__ __UNKNOWN__ X 12885578 12885578 __UNKNOWN__ Intron SNP T T G rs2302267 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12885578T>G ENST00000380659.3 + 2 41 NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 NA NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Hydroxychloroquine(DB01611)|Imiquimod(DB00724) ATGTAAACTTTGATGTCTTCT 0.388 NA t||| 254 0.0672848 0.0197 0.0389 3775 , , NA 14917 0.0764 NA 0.0487 False NA ,,, NA NA NA 2504 0.0767 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF240467 CCDS14151.1 Xp22.3 2008-02-05 ENSG00000196664 ENSG00000196664 51284 15631 protein-coding gene gene with protein product 300365 NA 11022119 Standard NM_016562 NM_016562 NA Approved uc004cvc.3 Q9NYK1 OTTHUMG00000021137 ENST00000380659.3:c.-98-22T>G chrX.hg19:g.12885578T>G NA D1CS69|Q9NR98 hg19 CCDS14151.1 0.02 29.261054 CTTxGAT COVERED NOVEL TLR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055769.1 2 17.448048 KEEP 0 0 0 58 1743 TT 1 1 0 + 21 60 792 0 0 48.370047 672 60 24269 872 ENST00000380659.3 0.030303 1 TLR7 51284 __UNKNOWN__ __UNKNOWN__ X 12907658 12907658 __UNKNOWN__ 3'UTR SNP C C G rs3853839 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12907658C>G ENST00000380659.3 + 0 4170 NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 NA NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235) double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888) NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Hydroxychloroquine(DB01611)|Imiquimod(DB00724) TGCTCTTTTTCCTTGGGCCTG 0.453 NA C||| 1519 0.402384 0.1415 0.2767 3775 , , NA 10019 0.5893 NA 0.1302 False NA ,,, NA NA NA 2504 0.4243 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF240467 CCDS14151.1 Xp22.3 2008-02-05 ENSG00000196664 ENSG00000196664 51284 15631 protein-coding gene gene with protein product 300365 NA 11022119 Standard NM_016562 NM_016562 NA Approved uc004cvc.3 Q9NYK1 OTTHUMG00000021137 ENST00000380659.3:c.*881C>G chrX.hg19:g.12907658C>G NA D1CS69|Q9NR98 hg19 CCDS14151.1 0.02 1.989254 TTTxCTT COVERED NOVEL TLR7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055769.1 2 5.656059 KEEP 0 0 0 19 627 CC 0.99986 0.999721 0 + 5 60 190 0 0 12.976523 86 60 3163 121 ENST00000380659.3 0.054945 0.999862 TLR8-AS1 349408 __UNKNOWN__ __UNKNOWN__ X 12924697 12924697 __UNKNOWN__ RNA SNP C C G rs3764879 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12924697C>G ENST00000451564.1 - 0 118 NR_030727.1 TLR8 antisense RNA 1 NA NA NA ACACACGCTACGTTCTGCTGA 0.413 NA G||| 1750 0.463576 0.2209 0.317 3775 , , NA 14049 0.6121 NA 0.2038 False NA ,,, NA NA NA 2504 0.4254 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA Xp22.2 2012-10-12 2012-08-15 ENSG00000233338 ENSG00000233338 349408 Long non-coding RNAs 40720 non-coding RNA RNA, long non-coding TLR8 antisense RNA 1 (non-protein coding) NA Standard NR_030727 NA Approved uc022btb.1 OTTHUMG00000021142 ENST00000451564.1: chrX.hg19:g.12924697C>G NA hg19 0.02 11.549495 CTAxGTT COVERED NOVEL TLR8-AS1-001 KNOWN basic antisense NA antisense OTTHUMT00000055776.1 1 5.417771 KEEP 0 0 0 18 643 CC 0.999859 0.999859 0 - 14 60 534 0 0 36.411193 246 60 8988 302 ENST00000451564.1 0.053846 1 TLR8 51311 __UNKNOWN__ __UNKNOWN__ X 12924826 12924826 __UNKNOWN__ 5'UTR SNP A A G rs3764880 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12924826A>G ENST00000311912.5 + 0 69 TLR8-AS1_ENST00000451564.1_RNA|TLR8_ENST00000218032.6_Start_Codon_SNP_p.M1V Q9NR97 TLR8_HUMAN toll-like receptor 8 NA NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 Imiquimod(DB00724) CAACAGAAACATGGTAAGCCA 0.453 NA G||| 1751 0.463841 0.2201 0.317 3775 , , NA 14224 0.6121 NA 0.2048 False NA ,,, NA NA NA 2504 0.4264 NA NA NA NA 0 GRCh37 CM083186 TLR8 M rs3764880 G VAL/MET 1013,2822 133,601,146,898,425 67 58 61 1 -3.6 0 X dbSNP_107 61 1664,5064 141,936,446,1351,1426 yes missense TLR8 NM_138636.4 21 274,1537,592,2249,1851 GG,GA,G,AA,A 24.7325,26.4146,25.3432 benign 1/1042 12924826 2677,7886 2203 4300 6503 SO:0001623 5_prime_UTR_variant AF246971 CCDS14152.1, CCDS14153.1 Xp22 2009-11-23 ENSG00000101916 ENSG00000101916 51311 CD molecules 15632 protein-coding gene gene with protein product 300366 NA 11022119 Standard NM_016610 NM_138636 NA Approved CD288 uc004cve.3 Q9NR97 OTTHUMG00000021145 ENST00000311912.5:c.-83A>G chrX.hg19:g.12924826A>G NA B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9 hg19 0.02 20.125745 AACxTGG COVERED 728 0.4388185654008439 85 0.1985981308411215 77 0.2711267605633803 221 0.65 100 0.1557632398753894 G 0.369 -0.934864 0.02340 0.264146 0.247325 ENSG00000101916 ENST00000218032 T 0.27890 1.64 4.56 -3.64 0.04515 . . . . . T 0.00012 0.0000 . . . 0.46798 P 7.909999999999862E-4 B 0.02656 0.0 B 0.01281 0.0 T 0.43278 -0.9401 7 0.87932 D 0 . 1.7067 0.02883 0.3541:0.2228:0.3092:0.1138 rs3764880;rs52808745;rs58935011;rs3764880 1 Q9NR97 TLR8_HUMAN V 1 ENSP00000218032:M1V ENSP00000218032:M1V M + 1 0 TLR8 12834747 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.626000 0.05527 -1.451000 0.01933 -3.568000 0.00029 ATG NOVEL TLR8-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000055783.1 2 17.451505 KEEP 0 0 0 58 1816 AA 1 1 0 + 19 60 684 0 0 43.261331 433 60 16066 617 ENST00000311912.5 0.042035 1 TLR8 51311 __UNKNOWN__ __UNKNOWN__ X 12937513 12937513 __UNKNOWN__ Silent SNP C C T rs2159377 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12937513C>T ENST00000311912.5 + 3 559 c.408C>T c.(406-408)gaC>gaT p.D136D TLR8_ENST00000218032.6_Silent_p.D118D Q9NR97 TLR8_HUMAN toll-like receptor 8 118 NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 Imiquimod(DB00724) ATATCACAGACGGGGCATTCC 0.428 NA C||| 1412 0.37404 0.1316 0.219 3775 , , NA 13960 0.5774 NA 0.1322 False NA ,,, NA NA NA 2504 0.3793 NA NA NA NA 0 C 534,3301 39,380,76,1213,495 114 117 116 354 -5.5 0.1 X dbSNP_96 116 1169,5559 70,727,302,1631,1570 no coding-synonymous TLR8 NM_138636.4 109,1107,378,2844,2065 TT,TC,T,CC,C 17.3751,13.9244,16.1223 118/1042 12937513 1703,8860 2203 4300 6503 SO:0001819 synonymous_variant AF246971 CCDS14152.1, CCDS14153.1 Xp22 2009-11-23 ENSG00000101916 ENSG00000101916 51311 CD molecules 15632 protein-coding gene gene with protein product 300366 NA 11022119 Standard NM_016610 NM_138636 NA Approved CD288 uc004cve.3 Q9NR97 OTTHUMG00000021145 ENST00000311912.5:c.408C>T chrX.hg19:g.12937513C>T NA B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9 hg19 0.02 13.573436 AGAxGGG COVERED NOVEL TLR8-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000055783.1 3 11.437055 KEEP 0 0 0 38 1325 CC 1 1 0 + 20 60 742 0 0 51.436371 294 60 10181 419 ENST00000311912.5 0.063694 1 TLR8 51311 __UNKNOWN__ __UNKNOWN__ X 12937804 12937804 __UNKNOWN__ Silent SNP C C T rs5744080 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12937804C>T ENST00000311912.5 + 3 850 c.699C>T c.(697-699)caC>caT p.H233H TLR8_ENST00000218032.6_Silent_p.H215H Q9NR97 TLR8_HUMAN toll-like receptor 8 215 NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727) p.H233H(1) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 Imiquimod(DB00724) CTCTTTCACACGTGCCACCCA 0.363 NA c||| 2556 0.677086 0.6157 0.513 3775 , , NA 13833 0.6121 NA 0.2843 False NA ,,, NA NA NA 2504 0.4939 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) T 2877,958 918,610,431,104,140 65 70 69 645 -4.9 0 X dbSNP_114 69 2640,4087 388,1130,734,910,1137 no coding-synonymous TLR8 NM_138636.4 1306,1740,1165,1014,1277 TT,TC,T,CC,C 39.2448,24.9804,47.7656 215/1042 12937804 5517,5045 2203 4299 6502 SO:0001819 synonymous_variant AF246971 CCDS14152.1, CCDS14153.1 Xp22 2009-11-23 ENSG00000101916 ENSG00000101916 51311 CD molecules 15632 protein-coding gene gene with protein product 300366 NA 11022119 Standard NM_016610 NM_138636 NA Approved CD288 uc004cve.3 Q9NR97 OTTHUMG00000021145 ENST00000311912.5:c.699C>T chrX.hg19:g.12937804C>T NA B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9 hg19 0.02 29.766903 ACAxGTG COVERED NOVEL TLR8-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000055783.1 3 9.134294 KEEP 0 3 96 64 2223 CC 1 1 0 + 39 60 1434 0 0 97.151003 642 60 22990 919 ENST00000311912.5 0.057269 1 TLR8 51311 __UNKNOWN__ __UNKNOWN__ X 12939112 12939112 __UNKNOWN__ Silent SNP G G C rs2407992 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12939112G>C ENST00000311912.5 + 3 2158 c.2007G>C c.(2005-2007)ctG>ctC p.L669L TLR8_ENST00000218032.6_Silent_p.L651L Q9NR97 TLR8_HUMAN toll-like receptor 8 651 NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 Imiquimod(DB00724) TTAATAGGCTGAAGCACATCC 0.368 NA C||| 2729 0.722914 0.7239 0.5231 3775 , , NA 15448 0.6151 NA 0.2893 False NA ,,, NA NA NA 2504 0.5092 NA NA NA NA 0 C 3387,448 1275,330,507,27,64 58 60 59 1953 -6.9 0 X dbSNP_100 59 2654,4072 392,1133,737,903,1133 no coding-synonymous TLR8 NM_138636.4 1667,1463,1244,930,1197 CC,CG,C,GG,G 39.4588,11.6819,42.799 651/1042 12939112 6041,4520 2203 4298 6501 SO:0001819 synonymous_variant AF246971 CCDS14152.1, CCDS14153.1 Xp22 2009-11-23 ENSG00000101916 ENSG00000101916 51311 CD molecules 15632 protein-coding gene gene with protein product 300366 NA 11022119 Standard NM_016610 NM_138636 NA Approved CD288 uc004cve.3 Q9NR97 OTTHUMG00000021145 ENST00000311912.5:c.2007G>C chrX.hg19:g.12939112G>C NA B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9 hg19 0.02 21.309923 GCTxAAG COVERED NOVEL TLR8-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000055783.1 4 3.182354 KEEP 0 2 70 35 1230 GG 1 1 0 + 30 60 1150 0 0 80.092689 468 60 17961 644 ENST00000311912.5 0.060241 1 TLR8 51311 __UNKNOWN__ __UNKNOWN__ X 12939412 12939412 __UNKNOWN__ Silent SNP C C A rs3747414 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:12939412C>A ENST00000311912.5 + 3 2458 c.2307C>A c.(2305-2307)atC>atA p.I769I TLR8_ENST00000218032.6_Silent_p.I751I Q9NR97 TLR8_HUMAN toll-like receptor 8 751 NA cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224) endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727) p.I769I(1) breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 Imiquimod(DB00724) TAAAAACAATCAACAAATCCG 0.423 NA C||| 2048 0.542517 0.289 0.4712 3775 , , NA 15702 0.6131 NA 0.2416 False NA ,,, NA NA NA 2504 0.4888 NA NA NA NA 1 Substitution - coding silent(1) stomach(1) C 1450,2385 241,759,209,632,362 102 93 96 2253 4 0.1 X dbSNP_107 96 2320,4408 289,1095,647,1044,1225 no coding-synonymous TLR8 NM_138636.4 530,1854,856,1676,1587 AA,AC,A,CC,C 34.4828,37.8096,35.6906 751/1042 12939412 3770,6793 2203 4300 6503 SO:0001819 synonymous_variant AF246971 CCDS14152.1, CCDS14153.1 Xp22 2009-11-23 ENSG00000101916 ENSG00000101916 51311 CD molecules 15632 protein-coding gene gene with protein product 300366 NA 11022119 Standard NM_016610 NM_138636 NA Approved CD288 uc004cve.3 Q9NR97 OTTHUMG00000021145 ENST00000311912.5:c.2307C>A chrX.hg19:g.12939412C>A NA B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9 hg19 0.02 18.814975 AATxAAC COVERED NOVEL TLR8-001 PUTATIVE basic|exp_conf protein_coding NA protein_coding OTTHUMT00000055783.1 5 17.155426 KEEP 0 0 0 57 1987 CC 1 1 0 + 29 60 990 0 0 64.874898 470 60 17792 626 ENST00000311912.5 0.058116 1 EGFL6 25975 __UNKNOWN__ __UNKNOWN__ X 13624615 13624615 __UNKNOWN__ Missense_Mutation SNP G G A rs149970054 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:13624615G>A ENST00000380602.3 + 6 878 c.638G>A c.(637-639)gGa>gAa p.G213E EGFL6_ENST00000361306.1_Missense_Mutation_p.G213E Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 213 NA cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811) basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020) calcium ion binding (GO:0005509)|integrin binding (GO:0005178) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TATATCAGTGGACGATATGAC 0.403 NA G||| 32 0.00847682 0.0 0.0 3775 , , NA 15316 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 207 185 192 NA NA X NA 13624615 2203 4300 6503 SO:0001583 missense AF186084 CCDS14155.1, CCDS55370.1 Xp22 2008-02-05 2002-10-09 ENSG00000198759 ENSG00000198759 25975 3235 protein-coding gene gene with protein product 300239 MAM and EGF domain containing MAEG NA 10610727 Standard NM_015507 NM_015507 NA Approved uc004cvj.3 Q8IUX8 OTTHUMG00000021155 ENST00000380602.3:c.638G>A chrX.hg19:g.13624615G>A ENSP00000369976:p.Gly213Glu NA B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6 hg19 CCDS55370.1 0.02 9.833583 GTGxACG COVERED 13 0.007836045810729355 0 0.0 0 0.0 12 0.02112676056338028 0 0.0 G 16.39 3.110895 0.56398 . . ENSG00000198759 ENST00000361306;ENST00000380602 D;D 0.87179 -2.22;-2.22 5.14 5.14 0.70334 EGF-like calcium-binding (1); 0.105241 0.64402 D 0.000004 D 0.85084 0.5616 L 0.46157 1.445 0.54753 D 0.999981 D;D 0.76494 0.998;0.999 P;D 0.69307 0.88;0.963 D 0.88243 0.2911 10 0.56958 D 0.05 . 17.4338 0.87546 0.0:0.0:1.0:0.0 . 213;213 Q8IUX8-2;Q8IUX8 .;EGFL6_HUMAN E 213 ENSP00000355126:G213E;ENSP00000369976:G213E ENSP00000355126:G213E G + 2 0 EGFL6 13534536 1.000000 0.71417 0.422000 0.26621 0.134000 0.20937 6.071000 0.71229 2.144000 0.66660 0.532000 0.56150 GGA NOVEL EGFL6-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000055801.1 1 6.319768 KEEP 0 0 0 21 694 GG 0.999869 0.999869 0 + 9 60 319 0 0 18.842047 277 60 10282 342 ENST00000380602.3 0.031469 1 GPM6B 2824 __UNKNOWN__ __UNKNOWN__ X 13789349 13789349 __UNKNOWN__ 3'UTR SNP T T G rs13793 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:13789349T>G ENST00000316715.4 - 0 3075 NM_001001995.1 NP_001001995.1 Q13491 GPM6B_HUMAN glycoprotein M6B NA NA cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 ATTAGAAAAGTAAAATTAGGC 0.328 NA T||| 1395 0.369536 0.2103 0.3703 3775 , , NA 12038 0.3641 NA 0.1392 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1 Xp22.2 2010-08-03 ENSG00000046653 ENSG00000046653 2824 4461 protein-coding gene gene with protein product 300051 NA 8661015 Standard NM_001001995 NM_001001995 NA Approved M6B, MGC17150, MGC54284 uc004cvw.3 Q13491 OTTHUMG00000021162 ENST00000316715.4:c.*1651A>C chrX.hg19:g.13789349T>G NA O76077|Q86X43|Q8N956 hg19 CCDS35206.1 0.02 4.855497 AAGxAAA COVERED NOVEL GPM6B-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000055823.2 2 4.813144 KEEP 0 0 0 16 476 TT 0.997832 0.997832 0 - 7 60 273 0 0 18.595793 132 60 4533 166 ENST00000316715.4 0.05036 1 GPM6B 2824 __UNKNOWN__ __UNKNOWN__ X 13790333 13790333 __UNKNOWN__ 3'UTR SNP G G A rs11095627 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:13790333G>A ENST00000454189.2 - 0 3198 GPM6B_ENST00000316715.4_3'UTR NM_001001994.1 NP_001001994.1 Q13491 GPM6B_HUMAN glycoprotein M6B NA NA cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 AAGCTTGTCAGTGAGTCCAGC 0.308 NA A||| 1299 0.344106 0.2254 0.3646 3775 , , NA 13773 0.3234 NA 0.1103 False NA ,,, NA NA NA 2504 0.318 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1 Xp22.2 2010-08-03 ENSG00000046653 ENSG00000046653 2824 4461 protein-coding gene gene with protein product 300051 NA 8661015 Standard NM_001001995 NM_001001995 NA Approved M6B, MGC17150, MGC54284 uc004cvw.3 Q13491 OTTHUMG00000021162 ENST00000454189.2:c.*2330C>T chrX.hg19:g.13790333G>A NA O76077|Q86X43|Q8N956 hg19 CCDS48084.1 0.02 6.729787 TCAxTGA COVERED NOVEL GPM6B-001 KNOWN not_organism_supported|basic|CCDS protein_coding NA protein_coding OTTHUMT00000055821.3 1 6.320296 KEEP 0 0 0 21 730 GG 0.999869 0.999869 0 - 6 60 222 0 0 14.091427 146 60 5477 185 ENST00000454189.2 0.039474 1 GPM6B 2824 __UNKNOWN__ __UNKNOWN__ X 13835121 13835121 __UNKNOWN__ 5'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:13835121A>G ENST00000356942.5 - 0 344 GPM6B_ENST00000493677.1_5'UTR|GPM6B_ENST00000316715.4_5'UTR|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000355135.2_5'UTR NM_005278.3 NP_005269.1 Q13491 GPM6B_HUMAN glycoprotein M6B NA NA cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893) integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1) 6 TCTCTTATTTACACCCGTCTG 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1 Xp22.2 2010-08-03 ENSG00000046653 ENSG00000046653 2824 4461 protein-coding gene gene with protein product 300051 NA 8661015 Standard NM_001001995 NM_001001995 NA Approved M6B, MGC17150, MGC54284 uc004cvw.3 Q13491 OTTHUMG00000021162 ENST00000356942.5:c.-98T>C chrX.hg19:g.13835121A>G NA O76077|Q86X43|Q8N956 hg19 CCDS14158.1 0.02 29.233859 TTTxCAC COVERED NOVEL GPM6B-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055822.1 1 15.641324 KEEP 0 0 0 52 1517 AA 1 1 0 - 26 60 1004 0 0 65.794143 603 60 20622 776 ENST00000356942.5 0.041335 1 ASB11 140456 __UNKNOWN__ __UNKNOWN__ X 15332558 15332558 __UNKNOWN__ Intron SNP A A G rs5935944 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:15332558A>G ENST00000480796.1 - 1 232 ASB11_ENST00000380470.3_Intron|ASB11_ENST00000537676.1_Silent_p.R17R|ASB11_ENST00000344384.4_Silent_p.R17R Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase NA NA intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) ACCTTCTGATACGTTCTGAAA 0.363 NA A||| 1356 0.359205 0.1059 0.2161 3775 , , NA 13644 0.3185 NA 0.2952 False NA ,,, NA NA NA 2504 0.4581 NA NA NA NA 0 A ,, 751,3084 61,504,125,1067,446 141 125 131 51,, 5.8 0.1 X dbSNP_114 131 2634,4094 381,1177,695,870,1177 no coding-synonymous,intron,intron ASB11 NM_001012428.2,NM_001201583.1,NM_080873.2 ,, 442,1681,820,1937,1623 GG,GA,G,AA,A 39.1498,19.5828,32.0458 ,, 17/303,, 15332558 3385,7178 2203 4300 6503 SO:0001627 intron_variant AF425642 CCDS14164.1, CCDS35209.1, CCDS56596.1 Xp22.31 2014-02-10 2014-02-10 ENSG00000165192 ENSG00000165192 140456 Ankyrin repeat domain containing 17186 protein-coding gene gene with protein product 300626 ankyrin repeat and SOCS box-containing 11, ankyrin repeat and SOCS box containing 11 NA 24337577 Standard NM_080873 NA Approved DKFZp779E2460 uc004cwp.2 Q8WXH4 OTTHUMG00000021173 ENST00000480796.1:c.181+988T>C chrX.hg19:g.15332558A>G NA E9PEN1|Q3SYC4|Q7Z667 hg19 CCDS14164.1 0.02 26.859264 GATxCGT COVERED NOVEL ASB11-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055852.2 2 21.197685 KEEP 0 1 36 83 2569 AA 1 1 0 - 16 60 611 1 0 36.535486 599 60 21512 877 ENST00000480796.1 0.026016 1 AP1S2 8905 __UNKNOWN__ __UNKNOWN__ X 15850540 15850540 __UNKNOWN__ Intron SNP C C T rs3761617 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:15850540C>T ENST00000329235.2 - 5 670 AP1S2_ENST00000479184.1_Intron|AP1S2_ENST00000421527.2_3'UTR|AP1S2_ENST00000545766.1_Intron|AP1S2_ENST00000380291.1_3'UTR NM_001272071.1|NM_003916.3 NP_001259000.1|NP_003907.3 P56377 AP1S2_HUMAN adaptor-related protein complex 1, sigma 2 subunit NA NA antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032) AP-type membrane coat adaptor complex (GO:0030119)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588) protein transporter activity (GO:0008565) large_intestine(1) 1 Hepatocellular(33;0.183) TCTAACAAATCCCTAAACTTA 0.274 NA C||| 1066 0.282384 0.174 0.2622 3775 , , NA 12999 0.2788 NA 0.171 False NA ,,, NA NA NA 2504 0.2055 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AB015320 CCDS14173.1, CCDS75958.1 Xp22 2014-01-31 ENSG00000182287 ENSG00000182287 8905 560 protein-coding gene gene with protein product 300629 mental retardation, X-linked 59, mental retardation, X-linked, syndromic 5, Pettigrew X-linked mental retardation syndrome MRX59, MRXS5, PGS NA 9733768, 17186471, 23756445 Standard NM_003916 NM_003916 NA Approved SIGMA1B uc010nex.4 P56377 OTTHUMG00000021186 ENST00000329235.2:c.427-5045G>A chrX.hg19:g.15850540C>T NA B4DSU4|O95326|Q9H2N6 hg19 CCDS14173.1 0.02 12.8269 AATxCCT COVERED NOVEL AP1S2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055893.1 4 21.367184 KEEP 139 0 0 71 2396 CC 1 1 0 - 15 60 547 0 0 35.828407 293 60 10792 564 ENST00000329235.2 0.048701 1 CTPS2 56474 __UNKNOWN__ __UNKNOWN__ X 16627756 16627756 __UNKNOWN__ Silent SNP C C T rs1048392 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16627756C>T ENST00000443824.1 - 17 2342 c.1599G>A c.(1597-1599)ccG>ccA p.P533P CTPS2_ENST00000380241.3_Silent_p.P533P|CTPS2_ENST00000359276.4_Silent_p.P533P NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 533 Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}. NA 'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|CTP synthase activity (GO:0003883) breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) AAGGCTTCATCGGCCTAGAAG 0.468 NA C||| 370 0.0980132 0.1392 0.0865 3775 , , NA 12771 0.0913 NA 0.006 False NA ,,, NA NA NA 2504 0.0286 NA NA NA NA 0 C ,, 690,3145 52,466,120,1114,451 115 96 102 1599,1599,1599 -11.4 0 X dbSNP_86 102 121,6607 2,86,31,2340,1841 no coding-synonymous,coding-synonymous,coding-synonymous CTPS2 NM_001144002.1,NM_019857.3,NM_175859.1 ,, 54,552,151,3454,2292 TT,TC,T,CC,C 1.7985,17.9922,7.6777 ,, 533/587,533/587,533/587 16627756 811,9752 2203 4300 6503 SO:0001819 synonymous_variant AF086422 CCDS14175.1 Xp22 2012-05-02 2012-05-02 ENSG00000047230 ENSG00000047230 56474 6.3.4.2 2520 protein-coding gene gene with protein product 300380 CTP synthase II NA 10899599 Standard NM_019857 NM_001144002 NA Approved uc004cxm.3 Q9NRF8 OTTHUMG00000021193 ENST00000443824.1:c.1599G>A chrX.hg19:g.16627756C>T NA B3KWM2|Q9BRI0|Q9H809|Q9H8K9 hg19 CCDS14175.1 0.02 5.880231 CATxGGC COVERED NOVEL CTPS2-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055906.1 1 7.523804 KEEP 0 0 0 25 846 CC 0.999931 0.999931 0 - 7 60 251 0 0 15.395505 185 60 6649 266 ENST00000443824.1 0.036458 1 SYAP1 94056 __UNKNOWN__ __UNKNOWN__ X 16781496 16781496 __UNKNOWN__ 3'UTR SNP G G A rs5980332 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16781496G>A ENST00000380155.3 + 0 4166 NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 NA NA cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) ttttcttggagacagaatctt 0.478 NA G||| 1375 0.364238 0.3094 0.2579 3775 , , NA 12483 0.4107 NA 0.2376 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF338728 CCDS14177.1 Xp22.31 2010-06-25 2010-06-25 ENSG00000169895 ENSG00000169895 94056 16273 protein-coding gene gene with protein product SAP47 homolog (Drosophila) NA 11483580 Standard NM_032796 NM_032796 NA Approved FLJ14495, PRO3113 uc004cxp.3 Q96A49 OTTHUMG00000021192 ENST00000380155.3:c.*3014G>A chrX.hg19:g.16781496G>A NA Q68CP1|Q96C60|Q96JQ6|Q96T20 hg19 CCDS14177.1 0.02 1.710671 GGAxACA COVERED NOVEL SYAP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055904.1 8 10.233298 KEEP 0 0 0 34 1217 GG 0.999998 0.999961 0 + 5 60 178 0 0 11.6589 91 60 3414 161 ENST00000380155.3 0.052083 0.999962 TXLNG 55787 __UNKNOWN__ __UNKNOWN__ X 16859628 16859628 __UNKNOWN__ Silent SNP G G A rs5924530 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16859628G>A ENST00000380122.5 + 10 1387 c.1326G>A c.(1324-1326)caG>caA p.Q442Q TXLNG_ENST00000398155.4_Silent_p.Q310Q|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 442 NA cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|nuclear membrane (GO:0031965) protein heterodimerization activity (GO:0046982) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GGGCTCTTCAGACAGAAAGGA 0.453 NA A||| 2434 0.644768 0.6483 0.4957 3775 , , NA 13006 0.6538 NA 0.2962 False NA ,,, NA NA NA 2504 0.2822 NA NA NA NA 0 A , 3100,735 1071,496,462,65,109 68 61 63 930,1326 0.7 0.7 X dbSNP_114 63 2624,4104 384,1142,714,902,1158 no coding-synonymous,coding-synonymous TXLNG NM_001168683.1,NM_018360.2 , 1455,1638,1176,967,1267 AA,AG,A,GG,G 39.0012,19.1656,45.8108 , 310/397,442/529 16859628 5724,4839 2203 4300 6503 SO:0001819 synonymous_variant AK002071 CCDS14178.1, CCDS55373.1 Xp22.2 2014-05-07 2010-04-20 2010-04-20 ENSG00000086712 ENSG00000086712 55787 18578 protein-coding gene gene with protein product lipopolysaccharide specific response-5 protein, factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription 300677 chromosome X open reading frame 15 CXorf15 NA 15911876, 15184072, 16831913 Standard NM_018360 NM_018360 NA Approved FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX uc004cxq.2 Q9NUQ3 OTTHUMG00000021196 ENST00000380122.5:c.1326G>A chrX.hg19:g.16859628G>A NA Q2KQ75|Q5JNZ7|Q9P0X1 hg19 CCDS14178.1 0.02 13.061122 TCAxACA COVERED NOVEL TXLNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055912.1 1 26.18472 KEEP 0 0 0 87 3047 GG 1 1 0 + 19 60 670 0 0 45.213692 285 60 10881 482 ENST00000380122.5 0.0625 1 TXLNG 55787 __UNKNOWN__ __UNKNOWN__ X 16860913 16860913 __UNKNOWN__ 3'UTR SNP A A G rs4828534 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16860913A>G ENST00000380122.5 + 0 2672 TXLNG_ENST00000398155.4_3'UTR|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma NA NA cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|nuclear membrane (GO:0031965) protein heterodimerization activity (GO:0046982) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 TTCATTTCCAAAACAAACACT 0.378 NA A||| 2290 0.606623 0.5159 0.5058 3775 , , NA 14503 0.6548 NA 0.3151 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002071 CCDS14178.1, CCDS55373.1 Xp22.2 2014-05-07 2010-04-20 2010-04-20 ENSG00000086712 ENSG00000086712 55787 18578 protein-coding gene gene with protein product lipopolysaccharide specific response-5 protein, factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription 300677 chromosome X open reading frame 15 CXorf15 NA 15911876, 15184072, 16831913 Standard NM_018360 NM_018360 NA Approved FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX uc004cxq.2 Q9NUQ3 OTTHUMG00000021196 ENST00000380122.5:c.*1024A>G chrX.hg19:g.16860913A>G NA Q2KQ75|Q5JNZ7|Q9P0X1 hg19 CCDS14178.1 0.02 11.449618 CCAxAAC COVERED NOVEL TXLNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055912.1 2 24.370057 KEEP 0 0 0 81 2524 AA 1 1 0 + 13 60 490 0 0 32.77365 248 60 8834 417 ENST00000380122.5 0.049808 1 TXLNG 55787 __UNKNOWN__ __UNKNOWN__ X 16861493 16861493 __UNKNOWN__ 3'UTR SNP T T C rs5969749 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16861493T>C ENST00000380122.5 + 0 3252 TXLNG_ENST00000398155.4_3'UTR|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma NA NA cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|nuclear membrane (GO:0031965) protein heterodimerization activity (GO:0046982) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 AAGCCTCCACTATCAGTCATG 0.398 NA C||| 2377 0.629669 0.5681 0.5086 3775 , , NA 14369 0.6567 NA 0.3171 False NA ,,, NA NA NA 2504 0.2986 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002071 CCDS14178.1, CCDS55373.1 Xp22.2 2014-05-07 2010-04-20 2010-04-20 ENSG00000086712 ENSG00000086712 55787 18578 protein-coding gene gene with protein product lipopolysaccharide specific response-5 protein, factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription 300677 chromosome X open reading frame 15 CXorf15 NA 15911876, 15184072, 16831913 Standard NM_018360 NM_018360 NA Approved FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX uc004cxq.2 Q9NUQ3 OTTHUMG00000021196 ENST00000380122.5:c.*1604T>C chrX.hg19:g.16861493T>C NA Q2KQ75|Q5JNZ7|Q9P0X1 hg19 CCDS14178.1 0.02 4.730921 CACxATC COVERED NOVEL TXLNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055912.1 1 10.530834 KEEP 0 0 0 35 1103 TT 0.999999 0.999997 0 + 7 60 272 0 0 18.980463 112 60 4181 176 ENST00000380122.5 0.058824 0.999998 TXLNG 55787 __UNKNOWN__ __UNKNOWN__ X 16861590 16861590 __UNKNOWN__ 3'UTR SNP C C A rs5969750 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16861590C>A ENST00000380122.5 + 0 3349 TXLNG_ENST00000398155.4_3'UTR|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma NA NA cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|nuclear membrane (GO:0031965) protein heterodimerization activity (GO:0046982) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GCAAAAAACACCACCCTCCAA 0.418 NA c||| 2190 0.580132 0.4463 0.4986 3775 , , NA 13812 0.6548 NA 0.3111 False NA ,,, NA NA NA 2504 0.2873 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002071 CCDS14178.1, CCDS55373.1 Xp22.2 2014-05-07 2010-04-20 2010-04-20 ENSG00000086712 ENSG00000086712 55787 18578 protein-coding gene gene with protein product lipopolysaccharide specific response-5 protein, factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription 300677 chromosome X open reading frame 15 CXorf15 NA 15911876, 15184072, 16831913 Standard NM_018360 NM_018360 NA Approved FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX uc004cxq.2 Q9NUQ3 OTTHUMG00000021196 ENST00000380122.5:c.*1701C>A chrX.hg19:g.16861590C>A NA Q2KQ75|Q5JNZ7|Q9P0X1 hg19 CCDS14178.1 0.02 3.440796 ACAxCAC COVERED NOVEL TXLNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055912.1 2 15.048654 KEEP 0 0 0 50 1746 CC 1 1 0 + 5 60 174 0 0 10.423672 135 60 4923 235 ENST00000380122.5 0.035714 1 TXLNG 55787 __UNKNOWN__ __UNKNOWN__ X 16862101 16862101 __UNKNOWN__ 3'UTR SNP G G A rs5969751 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16862101G>A ENST00000380122.5 + 0 3860 TXLNG_ENST00000398155.4_3'UTR|TXLNG_ENST00000485153.1_3'UTR NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma NA NA cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytosol (GO:0005829)|nuclear membrane (GO:0031965) protein heterodimerization activity (GO:0046982) breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 AGCGCACCCCGTATCTACCAT 0.438 NA A||| 2311 0.612185 0.5378 0.5014 3775 , , NA 15056 0.6488 NA 0.3141 False NA ,,, NA NA NA 2504 0.2883 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK002071 CCDS14178.1, CCDS55373.1 Xp22.2 2014-05-07 2010-04-20 2010-04-20 ENSG00000086712 ENSG00000086712 55787 18578 protein-coding gene gene with protein product lipopolysaccharide specific response-5 protein, factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription 300677 chromosome X open reading frame 15 CXorf15 NA 15911876, 15184072, 16831913 Standard NM_018360 NM_018360 NA Approved FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX uc004cxq.2 Q9NUQ3 OTTHUMG00000021196 ENST00000380122.5:c.*2212G>A chrX.hg19:g.16862101G>A NA Q2KQ75|Q5JNZ7|Q9P0X1 hg19 CCDS14178.1 0.02 15.428368 CCCxTAT COVERED NOVEL TXLNG-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055912.1 1 21.968708 KEEP 0 0 0 73 2488 GG 1 1 0 + 17 60 623 0 0 40.850986 335 60 11944 522 ENST00000380122.5 0.048295 1 RBBP7 5931 __UNKNOWN__ __UNKNOWN__ X 16876980 16876980 __UNKNOWN__ Intron SNP G G A rs4828536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:16876980G>A ENST00000380084.4 - 4 684 RBBP7_ENST00000404022.1_Intron|RBBP7_ENST00000380087.2_Intron NM_001198719.1 NP_001185648.1 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 NA NA cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351) ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581) RNA binding (GO:0003723) biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) ATTCTAATGTGAGGAGAAAGA 0.373 NA G||| 2104 0.557351 0.3858 0.4885 3775 , , NA 15010 0.6548 NA 0.3141 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 G , 1895,1940 409,797,280,426,291 91 76 81 , 3.2 1 X dbSNP_111 81 2753,3975 421,1165,746,842,1126 no intron,intron RBBP7 NM_001198719.1,NM_002893.3 , 830,1962,1026,1268,1417 AA,AG,A,GG,G 40.9185,49.4133,44.0027 , , 16876980 4648,5915 2203 4300 6503 SO:0001627 intron_variant U35143 CCDS14179.1, CCDS56598.1 Xp22.22 2013-01-10 2001-11-28 ENSG00000102054 ENSG00000102054 5931 WD repeat domain containing 9890 protein-coding gene gene with protein product G1/S transition control protein-binding protein RbAp46, retinoblastoma-binding protein 7, retinoblastoma-binding protein RbAp46, histone acetyltransferase type B subunit 2, retinoblastoma-binding protein p46 300825 retinoblastoma-binding protein 7 NA 7503932 Standard NM_002893 NM_002893 NA Approved RbAp46 uc004cxs.2 Q16576 OTTHUMG00000021198 ENST00000380084.4:c.440-8C>T chrX.hg19:g.16876980G>A NA Q5JP00 hg19 CCDS56598.1 0.02 37.310055 TGTxAGG COVERED NOVEL RBBP7-008 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000055922.2 6 55.980449 KEEP 0 0 0 186 6499 GG 1 1 0 - 53 60 1865 0 0 125.311609 820 60 31279 1257 ENST00000380084.4 0.06071 1 NHS 4810 __UNKNOWN__ __UNKNOWN__ X 17746244 17746244 __UNKNOWN__ Missense_Mutation SNP T T C rs3747295 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:17746244T>C ENST00000380060.3 + 6 4293 c.3955T>C c.(3955-3957)Ttt>Ctt p.F1319L NHS_ENST00000398097.3_Missense_Mutation_p.F1163L NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1340 NA cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088) cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923) breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AAGCAATCAATTTAAGCATCA 0.423 NA C||| 1493 0.395497 0.7005 0.2608 3775 , , NA 15699 0.3304 NA 0.0209 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 C LEU/PHE,LEU/PHE 3124,711 1082,488,472,62,99 110 95 100 3487,3955 0.7 0.1 X dbSNP_107 100 180,6548 0,131,49,2297,1823 yes missense,missense NHS NM_001136024.2,NM_198270.2 22,22 1082,619,521,2359,1922 CC,CT,C,TT,T 2.6754,18.5398,31.279 benign,benign 1163/1475,1319/1631 17746244 3304,7259 2203 4300 6503 SO:0001583 missense CCDS14181.1, CCDS48087.1 Xp22.3-p21.1 2014-06-18 ENSG00000188158 ENSG00000188158 4810 7820 protein-coding gene gene with protein product 300457 NA Standard NM_198270 NM_001136024 NA Approved uc004cxx.3 Q6T4R5 OTTHUMG00000022799 ENST00000380060.3:c.3955T>C chrX.hg19:g.17746244T>C ENSP00000369400:p.Phe1319Leu NA B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5 hg19 CCDS14181.1 0.02 12.012844 CAAxTTA COVERED 622 0.37492465340566605 226 0.7847222222222222 50 0.17123287671232876 123 0.2847222222222222 11 0.014705882352941176 C 0.028 -1.358242 0.01245 0.814602 0.026754 ENSG00000188158 ENST00000380060;ENST00000398097;ENST00000380057 T;T 0.38401 1.14;1.14 5.74 0.689 0.18033 . 1.134220 0.06265 N 0.694590 T 0.00012 0.0000 N 0.00538 -1.39 0.80722 P 0.0 B;B;B;B 0.02656 0.0;0.0;0.0;0.0 B;B;B;B 0.01281 0.0;0.0;0.0;0.0 T 0.32693 -0.9897 9 0.08381 T 0.77 0.9957 6.2175 0.20663 0.0:0.464:0.2082:0.3278 rs3747295;rs17273924;rs52834352;rs3747295 1340;1161;1163;1319 B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5 .;.;.;NHS_HUMAN L 1319;1163;1161 ENSP00000369400:F1319L;ENSP00000381170:F1163L ENSP00000369397:F1161L F + 1 0 NHS 17656165 0.103000 0.21917 0.090000 0.20809 0.257000 0.26127 0.002000 0.13061 -0.603000 0.05767 -0.992000 0.02543 TTT NOVEL NHS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000059120.1 1 13.235451 KEEP 0 0 0 44 1359 TT 1 1 0 + 17 60 647 0 0 45.399048 248 60 9015 352 ENST00000380060.3 0.064151 1 SCML1 6322 __UNKNOWN__ __UNKNOWN__ X 17772589 17772589 __UNKNOWN__ 3'UTR SNP C C T rs150310215 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:17772589C>T ENST00000380043.3 + 0 2314 SCML1_ENST00000380045.3_3'UTR|SCML1_ENST00000398080.1_3'UTR NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) NA NA anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) GGAAGTTCTCCGTCCTATGCA 0.333 NA c||| 279 0.0739073 0.0076 0.0793 3775 , , NA 11152 0.2024 NA 0.002 False NA ,,, NA NA NA 2504 0.0082 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14182.2, CCDS35210.1, CCDS35211.1 Xp22 2013-01-10 2001-11-28 ENSG00000047634 ENSG00000047634 6322 Sterile alpha motif (SAM) domain containing 10580 protein-coding gene gene with protein product 300227 sex comb on midleg (Drosophila)-like 1 NA 9570953 Standard NM_006746 XM_005274578 NA Approved uc004cyc.3 Q9UN30 OTTHUMG00000021206 ENST00000380043.3:c.*1077C>T chrX.hg19:g.17772589C>T NA B0FZN6|B2RA08|Q5H968|Q5H969 hg19 CCDS14182.2 0.02 8.061303 CTCxGTC COVERED NOVEL SCML1-005 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000060493.1 0 9.328724 KEEP 0 0 0 31 1015 CC 0.999997 0.999997 0 + 10 60 370 0 0 23.971087 217 60 7690 294 ENST00000380043.3 0.044053 1 BEND2 139105 __UNKNOWN__ __UNKNOWN__ X 18195834 18195834 __UNKNOWN__ Silent SNP G G A rs148886591 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:18195834G>A ENST00000380033.4 - 10 1617 c.1485C>T c.(1483-1485)gcC>gcT p.A495A BEND2_ENST00000380030.3_Silent_p.A404A NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 495 BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}. NA NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 TATTTTGTACGGCCAGCAAAT 0.388 NA G||| 31 0.00821192 0.0 0.0 3775 , , NA 12543 0.0308 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 G , 0,3835 0,0,0,1632,571 238 225 229 1212,1485 1.4 0 X dbSNP_134 229 2,6726 0,1,1,2427,1871 no coding-synonymous,coding-synonymous BEND2 NM_001184767.1,NM_153346.4 , 0,1,1,4059,2442 AA,AG,A,GG,G 0.0297,0.0,0.0189 , 404/646,495/800 18195834 2,10561 2203 4300 6503 SO:0001819 synonymous_variant AK128155 CCDS14184.1, CCDS55375.1 Xp22.22 2012-11-22 2008-10-03 2008-10-03 ENSG00000177324 ENSG00000177324 139105 BEN domain containing 28509 protein-coding gene gene with protein product chromosome X open reading frame 20 CXorf20 NA 12477932 Standard NM_153346 NM_153346 NA Approved MGC33653 uc004cyj.4 Q8NDZ0 OTTHUMG00000021211 ENST00000380033.4:c.1485C>T chrX.hg19:g.18195834G>A NA E9PFY2|Q4V9S2|Q5JXE5 hg19 CCDS14184.1 0.02 6.6844 TACxGCC COVERED NOVEL BEND2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055940.1 1 9.028766 KEEP 0 0 0 30 1020 GG 0.999997 0.999997 0 - 6 60 232 0 0 14.642679 174 60 6164 243 ENST00000380033.4 0.033333 1 BEND2 139105 __UNKNOWN__ __UNKNOWN__ X 18230715 18230715 __UNKNOWN__ Missense_Mutation SNP A A C rs17274127 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:18230715A>C ENST00000380033.4 - 4 594 c.462T>G c.(460-462)ttT>ttG p.F154L BEND2_ENST00000380030.3_Missense_Mutation_p.F154L NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 154 NA F -> L (in dbSNP:rs17274127). NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CTCTTTTTGGAAAATCCACTT 0.348 NA C||| 770 0.203974 0.1528 0.0807 3775 , , NA 12412 0.2599 NA 0.1441 False NA ,,, NA NA NA 2504 0.1074 NA NA NA NA 0 C LEU/PHE,LEU/PHE 736,3099 48,526,114,1058,457 168 155 159 462,462 -0.4 0 X dbSNP_123 159 1295,5433 95,747,358,1586,1514 yes missense,missense BEND2 NM_001184767.1,NM_153346.4 22,22 143,1273,472,2644,1971 CC,CA,C,AA,A 19.2479,19.1917,19.2275 benign,benign 154/646,154/800 18230715 2031,8532 2203 4300 6503 SO:0001583 missense AK128155 CCDS14184.1, CCDS55375.1 Xp22.22 2012-11-22 2008-10-03 2008-10-03 ENSG00000177324 ENSG00000177324 139105 BEN domain containing 28509 protein-coding gene gene with protein product chromosome X open reading frame 20 CXorf20 NA 12477932 Standard NM_153346 NM_153346 NA Approved MGC33653 uc004cyj.4 Q8NDZ0 OTTHUMG00000021211 ENST00000380033.4:c.462T>G chrX.hg19:g.18230715A>C ENSP00000369372:p.Phe154Leu NA E9PFY2|Q4V9S2|Q5JXE5 hg19 CCDS14184.1 0.02 7.617803 TGGxAAA COVERED 382 0.23025919228450875 63 0.13695652173913042 26 0.07514450867052024 107 0.2296137339055794 72 0.10526315789473684 C 0.006 -2.111741 0.00353 0.191917 0.192479 ENSG00000177324 ENST00000380033;ENST00000380030 T;T 0.26223 1.82;1.75 1.22 -0.388 0.12459 . 1.468090 0.05061 N 0.479850 T 0.00012 0.0000 N 0.02539 -0.55 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.21690 -1.0238 9 0.02654 T 1 . 1.6358 0.02742 0.2993:0.3281:0.0:0.3726 rs17274127;rs17274127 154;154 E9PFY2;Q8NDZ0 .;BEND2_HUMAN L 154 ENSP00000369372:F154L;ENSP00000369369:F154L ENSP00000369369:F154L F - 3 2 BEND2 18140636 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 -0.955000 0.03869 -0.791000 0.04486 -0.418000 0.06021 TTT NOVEL BEND2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055940.1 0 7.221411 KEEP 0 0 0 24 759 AA 0.999909 0.999909 0 - 10 60 396 0 0 27.701894 166 60 6086 244 ENST00000380033.4 0.056818 1 CDKL5 6792 __UNKNOWN__ __UNKNOWN__ X 18597869 18597869 __UNKNOWN__ Intron SNP C C A rs4825261 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:18597869C>A ENST00000379989.3 + 7 567 CDKL5_ENST00000379996.3_Intron NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 NA NA neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773) cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) AAAAAAAGCTCTGTATTGGAT 0.279 NA C||||C||| 1327|1327 0.351523|0.351523 0.1074|0.1074 0.3732|0.3732 3775|3775 ,|, ,|, NA 11712|11712 0.3621|0.3621 NA 0.2406|0.2406 False|False NA ,,,|,,, NA NA NA 2504|2504 0.3262|0.3262 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Y15057 CCDS14186.1 Xp22 2011-11-04 2002-11-26 2002-11-29 ENSG00000008086 ENSG00000008086 6792 Cyclin-dependent kinases 11411 protein-coding gene gene with protein product 300203 serine/threonine kinase 9 STK9 NA 9721213, 16935860 Standard NM_003159 XM_005274584 NA Approved EIEE2 uc004cym.3 O76039 OTTHUMG00000021214 ENST00000379989.3:c.283-99C>A chrX.hg19:g.18597869C>A NA G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6 hg19 CCDS14186.1 0.02 1.730752 GCTxTGT COVERED NOVEL CDKL5-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055945.2 2 2.407678 KEEP 0 0 0 8 269 CC 0.99257 0.991047 0 + 6 60 189 0 0 12.693024 69 60 2438 89 ENST00000379989.3 0.08 0.998465 GPR64 10149 __UNKNOWN__ __UNKNOWN__ X 19007912 19007912 __UNKNOWN__ 3'UTR SNP G G A rs182239120 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:19007912G>A ENST00000357991.3 - 0 4180 GPR64_ENST00000356606.4_3'UTR|GPR64_ENST00000360279.4_3'UTR|GPR64_ENST00000357544.3_3'UTR|GPR64_ENST00000379869.3_3'UTR|GPR64_ENST00000354791.3_3'UTR|GPR64_ENST00000379878.3_3'UTR|GPR64_ENST00000379873.2_3'UTR|GPR64_ENST00000379876.1_3'UTR Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 NA NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283) apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) G-protein coupled receptor activity (GO:0004930) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TTTAAAGAACGGCAATATGAT 0.388 NA A||| 10 0.00264901 0.0061 0.0029 3775 , , NA 16797 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X81892 CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1 Xp22.13 2014-08-08 ENSG00000173698 ENSG00000173698 10149 -, GPCR / Class B : Orphans 4516 protein-coding gene gene with protein product epididymal protein 6 300572 NA 9739419, 9150425 Standard NM_005756 NA Approved HE6, TM7LN2, EDDM6 uc004cyx.3 Q8IZP9 OTTHUMG00000021223 ENST00000357991.3:c.*1070C>T chrX.hg19:g.19007912G>A NA B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4 hg19 CCDS14191.1 0.02 4.328013 AACxGCA COVERED NOVEL GPR64-006 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000055973.2 1 4.213281 KEEP 0 0 0 14 471 GG 0.995343 0.995343 0 - 5 60 191 0 0 12.270973 126 60 4258 159 ENST00000357991.3 0.038168 1 PDHA1 5160 __UNKNOWN__ __UNKNOWN__ X 19375782 19375782 __UNKNOWN__ Missense_Mutation SNP A A C rs2229137 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:19375782A>C ENST00000422285.2 + 9 949 c.844A>C c.(844-846)Atg>Ctg p.M282L PDHA1_ENST00000379806.5_Missense_Mutation_p.M320L|PDHA1_ENST00000379804.1_Start_Codon_SNP_p.M1L|PDHA1_ENST00000540249.1_Missense_Mutation_p.M251L|PDHA1_ENST00000545074.1_Missense_Mutation_p.M289L|PDHA1_ENST00000478795.1_3'UTR P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 282 NA M -> L (in dbSNP:rs2229137). {ECO:0000269|PubMed:10077682, ECO:0000269|PubMed:8032855, ECO:0000269|Ref.10}. acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254) pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738) endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) GCCCATCCTGATGGAGCTGCA 0.542 NA A||| 187 0.0495364 0.0 0.0 3775 , , NA 14408 0.1786 NA 0.0 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 GRCh37 CM950922 PDHA1 M rs2229137 A LEU/MET,LEU/MET,LEU/MET,LEU/MET 8,3827 0,6,2,1626,569 248 196 213 http://www.ncbi.nlm.nih.gov/sites/varvu?gene 844,958,865,751 5.5 1 X dbSNP_98 213 4,6724 0,2,2,2426,1870 yes missense,missense,missense,missense PDHA1 NM_000284.3,NM_001173454.1,NM_001173455.1,NM_001173456.1 15,15,15,15 0,8,4,4052,2439 CC,CA,C,AA,A 0.0595,0.2086,0.1136 benign,benign,benign,benign 282/391,320/429,289/398,251/360 19375782 12,10551 2203 4300 6503 SO:0001583 missense CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1 Xp22.1 2008-02-05 ENSG00000131828 ENSG00000131828 5160 1.2.4.1 8806 protein-coding gene gene with protein product 300502 PDHA NA Standard NM_001173454 NA Approved uc004czh.4 P08559 OTTHUMG00000021224 ENST00000422285.2:c.844A>C chrX.hg19:g.19375782A>C ENSP00000394382:p.Met282Leu NA A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5 hg19 CCDS14192.1 0.02 22.774623 CTGxTGG COVERED 97 0.05846895720313442 0 0.0 0 0.0 75 0.1431297709923664 0 0.0 A 13.88 2.369852 0.42003 0.002086 5.95E-4 ENSG00000131828 ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285;ENST00000379804 D;D;D;D;D 0.96136 -3.92;-3.92;-3.92;-3.92;-3.58 5.53 5.53 0.82687 Dehydrogenase, E1 component (1); 0.000000 0.85682 D 0.000000 T 0.03871 0.0109 N 0.01679 -0.765 0.09310 P 0.999999999297677 B;B;B;B 0.09022 0.001;0.002;0.0;0.002 B;B;B;B 0.28139 0.004;0.008;0.003;0.086 T 0.65405 -0.6176 9 0.02654 T 1 -6.054 14.8856 0.70567 1.0:0.0:0.0:0.0 rs2229137;rs3810710;rs17274588;rs58140523;rs3810710 251;289;320;282 B7Z3X5;B7Z3T7;A5YVE9;P08559 .;.;.;ODPA_HUMAN L 320;289;251;282;1 ENSP00000369134:M320L;ENSP00000438550:M289L;ENSP00000440761:M251L;ENSP00000394382:M282L;ENSP00000369132:M1L ENSP00000369132:M1L M + 1 0 PDHA1 19285703 1.000000 0.71417 1.000000 0.80357 0.995000 0.86356 8.939000 0.92951 1.965000 0.57142 0.486000 0.48141 ATG NOVEL PDHA1-004 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000055977.1 1 18.957173 KEEP 0 0 0 63 1992 AA 1 1 0 + 32 60 1175 0 0 82.522988 437 60 16090 634 ENST00000422285.2 0.06823 1 EIF1AX 1964 __UNKNOWN__ __UNKNOWN__ X 20145968 20145968 __UNKNOWN__ 3'UTR SNP C C A rs138669696 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:20145968C>A ENST00000379607.5 - 0 1094 NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TTTTCTTCAACTGCAGACTTC 0.348 NA A||| 1179 0.312318 0.6104 0.1873 3775 , , NA 10158 0.0188 NA 0.1551 False NA ,,, NA NA NA 2504 0.0685 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant L18960 CCDS14196.1 Xp22.13 2014-02-19 2002-11-28 2004-05-26 ENSG00000173674 ENSG00000173674 1964 3250 protein-coding gene gene with protein product 300186 eukaryotic translation initiation factor 1A, X chromosome EIF4C, EIF1A NA 8106356, 9381176 Standard NM_001412 NA Approved eIF-1A, eIF-4C uc004czt.3 P47813 OTTHUMG00000022704 ENST00000379607.5:c.*456G>T chrX.hg19:g.20145968C>A NA B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6 hg19 CCDS14196.1 0.02 34.556271 CAAxTGC COVERED NOVEL EIF1AX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058913.1 6 4.997529 KEEP 1 14 410 161 5777 CC 1 1 0 - 51 33 1907 0 0 133.887043 707 50 26757 1097 ENST00000379607.5 0.067282 1 EIF1AX 1964 __UNKNOWN__ __UNKNOWN__ X 20159910 20159910 __UNKNOWN__ 5'UTR SNP G G A rs187747791 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:20159910G>A ENST00000379607.5 - 0 52 EIF1AX_ENST00000379593.1_5'UTR NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked NA NA cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413) cytosol (GO:0005829) poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743) endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TGGCGACCCAGCTCTTCAGAG 0.726 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant L18960 CCDS14196.1 Xp22.13 2014-02-19 2002-11-28 2004-05-26 ENSG00000173674 ENSG00000173674 1964 3250 protein-coding gene gene with protein product 300186 eukaryotic translation initiation factor 1A, X chromosome EIF4C, EIF1A NA 8106356, 9381176 Standard NM_001412 NA Approved eIF-1A, eIF-4C uc004czt.3 P47813 OTTHUMG00000022704 ENST00000379607.5:c.-152C>T chrX.hg19:g.20159910G>A NA B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6 hg19 CCDS14196.1 0.02 -0.262642 CCAxCTC COVERED NOVEL EIF1AX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058913.1 0 7.222117 KEEP 0 0 0 24 813 GG 0.999909 0.693605 0 - 3 27 106 0 0 7.799793 27 60 984 74 ENST00000379607.5 0.1 0.693668 MBTPS2 51360 __UNKNOWN__ __UNKNOWN__ X 21877424 21877424 __UNKNOWN__ Intron SNP A A G rs6528058 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:21877424A>G ENST00000379484.5 + 5 769 MBTPS2_ENST00000365779.2_Intron NM_015884.3 NP_056968.1 O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 NA NA activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222) breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 GAACAATTATATGCATACGTG 0.274 NA A||| 1695 0.449007 0.3638 0.4121 3775 , , NA 11079 0.4087 NA 0.2863 False NA ,,, NA NA NA 2504 0.2331 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF019612 CCDS14201.1 Xp22.12-p22.11 2014-02-03 2005-08-17 ENSG00000012174 ENSG00000012174 51360 15455 protein-coding gene gene with protein product 300294 membrane-bound transcription factor protease, site 2, keratosis follicularis spinulosa decalvans KFSD NA 9847074, 9659902, 20672378 Standard NM_015884 NA Approved S2P uc004dae.3 O43462 OTTHUMG00000021237 ENST00000379484.5:c.670+5803A>G chrX.hg19:g.21877424A>G NA Q9UM70|Q9UMD3 hg19 CCDS14201.1 0.02 2.206583 TATxTGC COVERED NOVEL MBTPS2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056026.1 1 3.308405 KEEP 63 0 0 11 335 AA 0.99254 0.992346 0 + 4 40 145 0 0 9.365244 83 60 2964 172 ENST00000379484.5 0.045977 0.999804 PHEX 5251 __UNKNOWN__ __UNKNOWN__ X 22267752 22267752 __UNKNOWN__ 3'UTR SNP T T A rs5951742 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22267752T>A ENST00000379374.4 + 0 4497 NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked NA NA bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 CCTCTCTGAATGGATAAACTT 0.408 NA T||| 377 0.0998675 0.1082 0.0605 3775 , , NA 8033 0.1736 NA 0.003 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U82970 CCDS14204.1 Xp22.2-p22.1 2008-07-31 2008-07-31 ENSG00000102174 ENSG00000102174 5251 8918 protein-coding gene gene with protein product 300550 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) HYP, HPDR NA 7550339, 9070861 Standard NM_000444 NM_000444 NA Approved PEX, HPDR1, HYP1, XLH uc004dah.3 P78562 OTTHUMG00000021241 ENST00000379374.4:c.*1682T>A chrX.hg19:g.22267752T>A NA O00678|Q13646|Q2M325|Q93032|Q99827 hg19 CCDS14204.1 0.02 4.049835 GAAxGGA COVERED NOVEL PHEX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056035.1 0 5.415516 KEEP 0 0 0 18 555 TT 0.999859 0.999857 0 + 6 60 212 0 0 13.789513 111 60 4016 155 ENST00000379374.4 0.051282 0.999998 PHEX 5251 __UNKNOWN__ __UNKNOWN__ X 22268220 22268220 __UNKNOWN__ 3'UTR SNP C C A rs559255193|rs1894417 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22268220C>A ENST00000379374.4 + 0 4965 NM_000444.4 NP_000435.3 P78562 PHEX_HUMAN phosphate regulating endopeptidase homolog, X-linked NA NA bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501) endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 42 GTCCATTACTCAAACAAAGCA 0.368 NA A||| 497 0.131656 0.2005 0.0648 3775 , , NA 15532 0.1687 NA 0.003 False NA ,,, NA NA NA 2504 0.0143 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U82970 CCDS14204.1 Xp22.2-p22.1 2008-07-31 2008-07-31 ENSG00000102174 ENSG00000102174 5251 8918 protein-coding gene gene with protein product 300550 phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets) HYP, HPDR NA 7550339, 9070861 Standard NM_000444 NM_000444 NA Approved PEX, HPDR1, HYP1, XLH uc004dah.3 P78562 OTTHUMG00000021241 ENST00000379374.4:c.*2150C>A chrX.hg19:g.22268220C>A NA O00678|Q13646|Q2M325|Q93032|Q99827 hg19 CCDS14204.1 0.02 8.528625 ACTxAAA COVERED NOVEL PHEX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056035.1 1 8.427085 KEEP 0 0 0 28 980 CC 0.999997 0.999997 0 + 8 60 293 0 0 17.863999 234 60 8877 314 ENST00000379374.4 0.033058 1 ZNF645 158506 __UNKNOWN__ __UNKNOWN__ X 22291606 22291606 __UNKNOWN__ Missense_Mutation SNP C C A rs5951426 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22291606C>A ENST00000323684.1 + 1 542 c.498C>A c.(496-498)gaC>gaA p.D166E NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 166 NA D -> E (in dbSNP:rs5951426). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:20657603}. protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 AAATCTCTGACATCCCTAAAA 0.463 NA A||| 1533 0.406093 0.5802 0.2954 3775 , , NA 14986 0.3393 NA 0.0845 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 A GLU/ASP 2605,1230 768,679,390,185,181 93 90 91 498 0.8 0 X dbSNP_114 91 752,5976 39,471,203,1918,1669 yes missense ZNF645 NM_152577.3 45 807,1150,593,2103,1850 AA,AC,A,CC,C 11.1772,32.073,31.7807 benign 166/426 22291606 3357,7206 2203 4300 6503 SO:0001583 missense AK098601 CCDS14205.1 Xp22.11 2014-01-21 ENSG00000175809 ENSG00000175809 158506 26371 protein-coding gene gene with protein product NA Standard NM_152577 NM_152577 NA Approved FLJ25735, HAKAIL, CT138 uc004dai.2 Q8N7E2 OTTHUMG00000021242 ENST00000323684.1:c.498C>A chrX.hg19:g.22291606C>A ENSP00000323348:p.Asp166Glu NA A0AV29|A0AV31|E3SBK4|Q6DJY9 hg19 CCDS14205.1 0.02 16.80854 TGAxATC COVERED 635 0.38276069921639544 201 0.6165644171779141 70 0.2229299363057325 125 0.2880184331797235 41 0.05742296918767507 A 3.325 -0.137835 0.06711 0.67927 0.111772 ENSG00000175809 ENST00000323684 T 0.32272 1.46 3.32 0.836 0.18891 . 0.285432 0.29253 N 0.012685 T 0.00012 0.0000 N 0.03608 -0.345 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.40213 -0.9575 9 0.06365 T 0.9 . 0.5068 0.00588 0.3297:0.1861:0.1164:0.3678 rs5951426;rs6528101;rs60426202;rs5951426 166 Q8N7E2 ZN645_HUMAN E 166 ENSP00000323348:D166E ENSP00000323348:D166E D + 3 2 ZNF645 22201527 0.047000 0.20315 0.000000 0.03702 0.001000 0.01503 -0.180000 0.09754 -0.203000 0.10251 -1.309000 0.01313 GAC NOVEL ZNF645-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056037.1 1 12.073868 KEEP 0 1 31 51 1793 CC 1 1 0 + 11 60 404 0 0 23.675429 398 60 15142 547 ENST00000323684.1 0.026895 1 ZNF645 158506 __UNKNOWN__ __UNKNOWN__ X 22291732 22291732 __UNKNOWN__ Silent SNP C C T rs6629461 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22291732C>T ENST00000323684.1 + 1 668 c.624C>T c.(622-624)atC>atT p.I208I NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 208 NA protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 ATAAGGATATCCAGGCTCCTC 0.438 NA T||| 1014 0.268609 0.202 0.2608 3775 , , NA 15996 0.3403 NA 0.0885 False NA ,,, NA NA NA 2504 0.137 NA NA NA NA 0 T 937,2898 103,585,146,944,425 141 97 112 624 -2.1 0 X dbSNP_116 112 795,5933 44,493,214,1891,1658 no coding-synonymous ZNF645 NM_152577.3 147,1078,360,2835,2083 TT,TC,T,CC,C 11.8163,24.4329,16.3969 208/426 22291732 1732,8831 2203 4300 6503 SO:0001819 synonymous_variant AK098601 CCDS14205.1 Xp22.11 2014-01-21 ENSG00000175809 ENSG00000175809 158506 26371 protein-coding gene gene with protein product NA Standard NM_152577 NM_152577 NA Approved FLJ25735, HAKAIL, CT138 uc004dai.2 Q8N7E2 OTTHUMG00000021242 ENST00000323684.1:c.624C>T chrX.hg19:g.22291732C>T NA A0AV29|A0AV31|E3SBK4|Q6DJY9 hg19 CCDS14205.1 0.02 22.17096 TATxCAG COVERED NOVEL ZNF645-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056037.1 5 11.773356 KEEP 0 1 34 51 1784 CC 1 1 0 + 15 60 528 0 0 29.993188 544 60 20229 713 ENST00000323684.1 0.026834 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 22292601 22292601 __UNKNOWN__ IGR SNP A A T rs6528102|rs201219167 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22292601A>T NA NA ZNF645 (27 upstream) : RP11-40F8.2 (114830 downstream) NA NA NA TTATTTTTTTATTTTTTGGTG 0.313 NA -||| 1620 0.429139 0.6014 0.3084 3775 , , NA 14780 0.3651 NA 0.1014 False NA ,,, NA NA NA 2504 0.1442 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.22292601A>T NA hg19 0.02 1.924499 TTTxTTT COVERED NOVEL 0 1 3.30817 KEEP 0 0 0 11 316 AA 0.993072 0.9928 0 4 60 138 1 0 8.667348 83 60 3061 116 0.045977 0.999726 RP11-40F8.2 0 __UNKNOWN__ __UNKNOWN__ X 22454508 22454508 __UNKNOWN__ lincRNA SNP C C T rs56811458 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22454508C>T ENST00000455399.1 - 0 312 RP11-494I9.2_ENST00000456621.1_lincRNA NA NA NA CCTCCCTCTGCTATTTATGCA 0.453 NA C||| 403 0.106755 0.0076 0.0187 3775 , , NA 17052 0.2163 NA 0.0427 False NA ,,, NA NA NA 2504 0.1217 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000455399.1: chrX.hg19:g.22454508C>T NA hg19 0.02 5.724162 CTGxTAT COVERED NOVEL RP11-40F8.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000056044.1 2 4.213855 KEEP 0 0 0 14 506 CC 0.995343 0.995343 0 - 6 60 205 0 0 12.395072 146 60 5529 198 ENST00000455399.1 0.039474 1 RP11-40F8.2 0 __UNKNOWN__ __UNKNOWN__ X 22456533 22456533 __UNKNOWN__ lincRNA SNP C C T rs62583967 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:22456533C>T ENST00000455399.1 - 0 312 RP11-494I9.2_ENST00000456621.1_lincRNA NA NA NA CTGAACAATCCTACAGGGAAA 0.318 NA c||| 396 0.104901 0.0083 0.0187 3775 , , NA 11307 0.2183 NA 0.0437 False NA ,,, NA NA NA 2504 0.1104 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000455399.1: chrX.hg19:g.22456533C>T NA hg19 0.02 6.561136 ATCxTAC COVERED NOVEL RP11-40F8.2-001 KNOWN basic lincRNA NA lincRNA OTTHUMT00000056044.1 1 11.738201 KEEP 0 0 0 39 1395 CC 1 1 0 - 7 60 261 0 0 16.394328 185 60 6787 288 ENST00000455399.1 0.036458 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 23095167 23095167 __UNKNOWN__ IGR SNP A A G rs144206394 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:23095167A>G NA NA RP11-40F8.2 (12931 upstream) : AC004673.1 (43781 downstream) NA NA NA TTCTAAAAGCATACACAATGT 0.308 NA -||| 639 0.169272 0.1513 0.1138 3775 , , NA 15801 0.1062 NA 0.1869 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.23095167A>G NA hg19 0.02 9.72474 AGCxTAC COVERED NOVEL 0 4 14.440809 KEEP 311 0 0 48 1451 AA 0.99649 0.99649 0 9 40 304 0 0 17.356961 278 50 10273 686 0.031359 1 KLHL15 80311 __UNKNOWN__ __UNKNOWN__ X 24002895 24002895 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:24002895A>G ENST00000328046.8 - 0 5213 NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 NA NA protein ubiquitination (GO:0016567) autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 CTCCATTTTTACCACTTCTCC 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB051464 CCDS35217.1 Xp22.1-p21 2013-01-30 2013-01-30 ENSG00000174010 ENSG00000174010 80311 Kelch-like, BTB/POZ domain containing 29347 protein-coding gene gene with protein product kelch-like 15 (Drosophila) NA 11214970, 14702039 Standard XM_040383 NM_030624 NA Approved KIAA1677 uc004dba.4 Q96M94 OTTHUMG00000021261 ENST00000328046.8:c.*3143T>C chrX.hg19:g.24002895A>G NA Q32MN3|Q8NDA3|Q96BM6|Q9C0I6 hg19 CCDS35217.1 0.02 4.285718 TTTxCCA COVERED NOVEL KLHL15-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056078.1 3 8.12394 KEEP 0 0 0 27 828 AA 0.999988 0.999988 0 - 5 60 190 0 0 11.91323 142 60 4999 209 ENST00000328046.8 0.034014 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 25664163 25664163 __UNKNOWN__ IGR SNP T T C rs1978986 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:25664163T>C NA NA AC112778.1 (439586 upstream) : RP11-86A5.1 (232292 downstream) NA NA NA TCTTCAGGGTTTTGTCCCTCT 0.582 NA C||| 1718 0.455099 0.5545 0.3401 3775 , , NA 12032 0.1508 NA 0.4225 False NA ,,, NA NA NA 2504 0.1759 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.25664163T>C NA hg19 0.02 -0.315832 GGTxTTG COVERED NOVEL 0 1 3.609768 KEEP 0 0 0 12 361 TT 0.993634 0.813254 0 4 60 147 0 0 11.155461 32 60 1149 58 0.111111 0.818465 MAGEB6 158809 __UNKNOWN__ __UNKNOWN__ X 26212477 26212477 __UNKNOWN__ Missense_Mutation SNP G G C rs145782491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:26212477G>C ENST00000379034.1 + 2 663 c.514G>C c.(514-516)Ggt>Cgt p.G172R NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 172 NA G -> R (in Ref. 1; BAC05102). {ECO:0000305}. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 GGCTGCCGAGGGTGAAGATGA 0.502 NA .||| 51 0.0135099 0.0 0.0072 3775 , , NA 13896 0.0 NA 0.0189 False NA ,,, NA NA NA 2504 0.0276 NA NA NA NA 0 G ARG/GLY 6,3827 0,5,1,1626,570 55 49 51 514 -2.6 0 X dbSNP_134 51 112,6616 0,84,28,2344,1844 yes missense MAGEB6 NM_173523.2 125 0,89,29,3970,2414 CC,CG,C,GG,G 1.6647,0.1565,1.1173 probably-damaging 172/408 26212477 118,10443 2202 4300 6502 SO:0001583 missense AF320514 CCDS14217.1 Xp22.12 2009-03-17 ENSG00000176746 ENSG00000176746 158809 23796 protein-coding gene gene with protein product cancer/testis antigen family 3, member 4 300467 NA 10861452 Standard NM_173523 NM_173523 NA Approved FLJ40242, MAGE-B6, MAGEB6A, CT3.4 uc004dbr.3 Q8N7X4 OTTHUMG00000021285 ENST00000379034.1:c.514G>C chrX.hg19:g.26212477G>C ENSP00000368320:p.Gly172Arg NA Q6GS19|Q9H219 hg19 CCDS14217.1 0.02 6.961872 GAGxGTG COVERED 13 0.007836045810729355 0 0.0 2 0.0055248618784530384 0 0.0 9 0.011936339522546418 G 6.633 0.485291 0.12641 0.001565 0.016647 ENSG00000176746 ENST00000379034 T 0.01902 4.57 1.83 -2.56 0.06268 . 1.004860 0.08007 U 0.989793 T 0.01061 0.0035 N 0.24115 0.695 0.09310 N 1 P 0.48503 0.911 P 0.48166 0.569 T 0.34329 -0.9833 10 0.44086 T 0.13 . 2.5024 0.04637 0.3012:0.0:0.4394:0.2594 . 172 Q8N7X4 MAGB6_HUMAN R 172 ENSP00000368320:G172R ENSP00000368320:G172R G + 1 0 MAGEB6 26122398 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 -0.905000 0.04075 -0.833000 0.04245 -0.386000 0.06593 GGT NOVEL MAGEB6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056123.1 2 3.611603 KEEP 0 0 0 12 408 GG 0.993634 0.993634 0 + 71 60 2375 0 0 223.599177 89 60 3082 197 ENST00000379034.1 0.44375 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 26775275 26775275 __UNKNOWN__ IGR SNP G G T rs5944595 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:26775275G>T NA NA VENTXP1 (196106 upstream) : RNU1-142P (32983 downstream) NA NA NA tttgcctcttgtaaaaagttc 0.443 NA T||| 1088 0.288212 0.1589 0.1398 3775 , , NA 13729 0.2272 NA 0.2336 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.26775275G>T NA hg19 0.02 -0.298083 CTTxTAA COVERED NOVEL 0 0 2.407986 KEEP 0 0 0 8 293 GG 0.99257 0.775257 0 19 60 662 0 0 65.143214 15 60 537 52 0.558824 0.78106 NR0B1 190 __UNKNOWN__ __UNKNOWN__ X 30323916 30323916 __UNKNOWN__ Intron SNP T T G rs3788891 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:30323916T>G ENST00000378970.4 - 2 1403 NR0B1_ENST00000378963.1_3'UTR NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 NA NA adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788) AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AATTAGCAGTTGACCACTTGG 0.328 NA T||| 1975 0.523179 0.528 0.2233 3775 , , NA 12761 0.5575 NA 0.1203 False NA ,,, NA NA NA 2504 0.4489 NA NA NA NA 0 T 868,545 199,256,214,85,119 15 18 17 0.5 0 X dbSNP_107 17 570,2527 46,340,138,727,733 no intron NR0B1 NM_000475.4 245,596,352,812,852 GG,GT,G,TT,T 18.4049,38.5704,31.8847 30323916 1438,3072 873 1984 2857 SO:0001627 intron_variant S74720 CCDS14223.1 Xp21.3 2014-06-28 ENSG00000169297 ENSG00000169297 190 Nuclear hormone receptors 7960 protein-coding gene gene with protein product 300473 dosage-sensitive sex reversal AHC, DSS NA 1301166, 10412368 Standard NM_000475 NM_000475 NA Approved DAX1, AHCH uc004dcf.4 P51843 OTTHUMG00000021323 ENST00000378970.4:c.1169-976A>C chrX.hg19:g.30323916T>G NA Q96F69 hg19 CCDS14223.1 0.02 11.721888 AGTxGAC COVERED NOVEL NR0B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056161.1 0 10.830857 KEEP 0 0 0 36 1098 TT 0.999999 0.999999 0 - 12 60 447 0 0 29.232715 252 60 9305 335 ENST00000378970.4 0.045455 1 NR0B1 190 __UNKNOWN__ __UNKNOWN__ X 30326983 30326983 __UNKNOWN__ Silent SNP C C T rs2269345 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:30326983C>T ENST00000378970.4 - 1 732 c.498G>A c.(496-498)cgG>cgA p.R166R NR0B1_ENST00000453287.1_Silent_p.R166R NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 166 4 X 67 AA tandem repeats. NA adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788) AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134) central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CGCCCCCTGGCCGTGCCTCGG 0.677 NA OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C||| 1799 0.476556 0.3669 0.2983 3775 , , NA 10783 0.5506 NA 0.1252 False NA ,,, NA NA NA 2504 0.4356 NA NA NA NA 0 C 1657,2162 310,798,239,518,328 14 12 13 498 0.3 0 X dbSNP_100 13 1320,5388 111,746,352,1565,1512 no coding-synonymous NR0B1 NM_000475.4 421,1544,591,2083,1840 TT,TC,T,CC,C 19.678,43.3883,28.2797 166/471 30326983 2977,7550 2193 4286 6479 SO:0001819 synonymous_variant S74720 CCDS14223.1 Xp21.3 2014-06-28 ENSG00000169297 ENSG00000169297 190 Nuclear hormone receptors 7960 protein-coding gene gene with protein product 300473 dosage-sensitive sex reversal AHC, DSS NA 1301166, 10412368 Standard NM_000475 NM_000475 NA Approved DAX1, AHCH uc004dcf.4 P51843 OTTHUMG00000021323 ENST00000378970.4:c.498G>A chrX.hg19:g.30326983C>T 816 Q96F69 hg19 CCDS14223.1 0.02 7.695326 TGGxCGT COVERED NOVEL NR0B1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056161.1 1 17.456271 KEEP 0 0 0 58 2058 CC 1 1 0 - 13 60 447 0 0 28.821714 233 60 8509 366 ENST00000378970.4 0.052846 1 GK 2710 __UNKNOWN__ __UNKNOWN__ X 30739293 30739293 __UNKNOWN__ Intron SNP T T C rs36091714 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:30739293T>C ENST00000378943.3 + 17 1662 GK_ENST00000427190.1_Intron|GK_ENST00000378946.3_Intron|GK_ENST00000378945.3_Intron|RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase NA NA cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) central_nervous_system(1)|large_intestine(3) 4 AGAGAAATCGTTGCTTATCAA 0.323 NA T||| 1221 0.323444 0.1604 0.2262 3775 , , NA 13612 0.2907 NA 0.2435 False NA ,,, NA NA NA 2504 0.3211 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant X78711 CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1 Xp21.3 2014-09-17 ENSG00000198814 ENSG00000198814 2710 2.7.1.30 Glycerol kinases 4289 protein-coding gene gene with protein product 300474 NA 7987308 Standard NM_000167 NM_203391 NA Approved GK1, GKD uc022buj.1 P32189 OTTHUMG00000021328 ENST00000378943.3:c.1483+181T>C chrX.hg19:g.30739293T>C NA A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1 hg19 CCDS48090.1 0.02 27.052494 TCGxTGC COVERED NOVEL GK-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056170.1 5 12.171511 KEEP 0 1 21 48 1583 TT 1 1 0 + 26 60 1022 0 0 68.701349 545 60 19529 715 ENST00000378943.3 0.045534 1 GK 2710 __UNKNOWN__ __UNKNOWN__ X 30747888 30747888 __UNKNOWN__ 3'UTR SNP G G T rs201500166 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:30747888G>T ENST00000378943.3 + 0 2870 GK_ENST00000378946.3_3'UTR NM_001128127.2 NP_001121599.1 P32189 GLPK_HUMAN glycerol kinase NA NA cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634) ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370) central_nervous_system(1)|large_intestine(3) 4 CTTAAAAAAAGAAGAAACTGT 0.214 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X78711 CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1 Xp21.3 2014-09-17 ENSG00000198814 ENSG00000198814 2710 2.7.1.30 Glycerol kinases 4289 protein-coding gene gene with protein product 300474 NA 7987308 Standard NM_000167 NM_203391 NA Approved GK1, GKD uc022buj.1 P32189 OTTHUMG00000021328 ENST00000378943.3:c.*1029G>T chrX.hg19:g.30747888G>T NA A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1 hg19 CCDS48090.1 0.02 4.651909 AAAxAAG COVERED NOVEL GK-004 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056170.1 1 4.148058 KEEP 1 1 29 24 873 GG 0.999931 0.999931 0 + 15 51 560 0 0 43.076373 113 60 4360 207 ENST00000378943.3 0.117187 1 DMD 1756 __UNKNOWN__ __UNKNOWN__ X 31697636 31697636 __UNKNOWN__ Silent SNP A A G rs1801188 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:31697636A>G ENST00000357033.4 - 53 7934 c.7728T>C c.(7726-7728)aaT>aaC p.N2576N DMD_ENST00000378677.2_Silent_p.N2572N|DMD_ENST00000474231.1_Silent_p.N116N|DMD_ENST00000541735.1_Silent_p.N116N|DMD_ENST00000343523.2_Silent_p.N116N|DMD_ENST00000359836.1_Silent_p.N116N|DMD_ENST00000378707.3_Silent_p.N116N NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2576 NA cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385) cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTAACATTTCATTCAACTGTT 0.413 NA A||| 684 0.181192 0.0711 0.1182 3775 , , NA 11946 0.2887 NA 0.1193 False NA ,,, NA NA NA 2504 0.0992 NA NA NA NA 0 A ,,,,,,,,,,, 409,3424 15,323,56,1293,515 177 144 155 7704,7728,7359,7716,7359,3705,3696,348,348,348,348,348 3.5 1 X dbSNP_89 155 1364,5364 109,765,381,1554,1491 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous DMD NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2 ,,,,,,,,,,, 124,1088,437,2847,2006 GG,GA,G,AA,A 20.2735,10.6705,16.7882 ,,,,,,,,,,, 2568/3678,2576/3686,2453/3563,2572/3682,2453/3563,1235/2345,1232/2342,116/1226,116/1116,116/1244,116/1231,116/1134 31697636 1773,8788 2202 4300 6502 SO:0001819 synonymous_variant AF047505 CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1 Xp21.2 2014-09-17 2008-08-01 ENSG00000198947 ENSG00000198947 1756 2928 protein-coding gene gene with protein product muscular dystrophy, Duchenne and Becker types 300377 dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85 MRX85 NA 3282674, 3607877, 23900271 Standard NM_004006 NM_004019 NA Approved BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 uc004dda.1 P11532 OTTHUMG00000021336 ENST00000357033.4:c.7728T>C chrX.hg19:g.31697636A>G NA E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4 hg19 CCDS14233.1 0.02 21.519442 TTCxTTC COVERED 332 0.2001205545509343 21 0.04375 25 0.0748502994011976 118 0.2610619469026549 67 0.0938375350140056 A 9.387 1.074424 0.20227 0.106705 0.202735 ENSG00000198947 ENST00000465285 . . . 5.89 3.54 0.40534 . . . . . . . . . . . 0.09310 P 0.9999999999795826 . . . . . . . . . . . . . . 3.9442 0.09341 0.5906:0.0:0.1497:0.2597 rs1801188;rs17338646;rs1801188 . . . R 305 . . X - 1 0 DMD 31607557 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.065000 0.30592 0.833000 0.34828 0.441000 0.28932 TGA NOVEL DMD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056182.2 3 18.055342 KEEP 0 0 0 60 1916 AA 1 1 0 - 17 60 586 0 0 34.544226 503 60 18609 690 ENST00000357033.4 0.032692 1 DMD 1756 __UNKNOWN__ __UNKNOWN__ X 32053662 32053662 __UNKNOWN__ Intron SNP G G C rs2222852 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:32053662G>C ENST00000357033.4 - 45 6645 DMD_ENST00000378677.2_Intron|DMD_ENST00000474231.1_Intron|DMD_ENST00000541735.1_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000359836.1_Intron|DMD_ENST00000378707.3_Intron NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin NA NA cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385) cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) aattgcatgagagttccttaa 0.363 NA G||| 909 0.240795 0.1619 0.1787 3775 , , NA 12608 0.2738 NA 0.1501 False NA ,,, NA NA NA 2504 0.1472 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF047505 CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1 Xp21.2 2014-09-17 2008-08-01 ENSG00000198947 ENSG00000198947 1756 2928 protein-coding gene gene with protein product muscular dystrophy, Duchenne and Becker types 300377 dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85 MRX85 NA 3282674, 3607877, 23900271 Standard NM_004006 NM_004019 NA Approved BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 uc004dda.1 P11532 OTTHUMG00000021336 ENST00000357033.4:c.6439-67031C>G chrX.hg19:g.32053662G>C NA E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4 hg19 CCDS14233.1 0.02 11.224078 TGAxAGT COVERED NOVEL DMD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056182.2 1 4.250282 KEEP 0 1 37 27 954 GG 0.999997 0.999997 0 - 8 60 310 0 0 18.826766 290 60 10936 400 ENST00000357033.4 0.026846 1 DMD 1756 __UNKNOWN__ __UNKNOWN__ X 32534883 32534883 __UNKNOWN__ Intron SNP T T C rs170605 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:32534883T>C ENST00000357033.4 - 18 2499 DMD_ENST00000378677.2_Intron|DMD_ENST00000288447.4_3'UTR NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin NA NA cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385) cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013) actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCAAACAATTTACCTTCAAAG 0.244 NA T||| 975 0.258278 0.2579 0.17 3775 , , NA 11354 0.1706 NA 0.172 False NA ,,, NA NA NA 2504 0.1748 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF047505 CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1 Xp21.2 2014-09-17 2008-08-01 ENSG00000198947 ENSG00000198947 1756 2928 protein-coding gene gene with protein product muscular dystrophy, Duchenne and Becker types 300377 dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, mental retardation, X-linked 85 MRX85 NA 3282674, 3607877, 23900271 Standard NM_004006 NM_004019 NA Approved BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 uc004dda.1 P11532 OTTHUMG00000021336 ENST00000357033.4:c.2292+1241A>G chrX.hg19:g.32534883T>C NA E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4 hg19 CCDS14233.1 0.02 4.888867 ATTxACC COVERED NOVEL DMD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056182.2 1 3.008693 KEEP 0 0 0 10 299 TT 0.992708 0.992676 0 - 5 60 197 0 0 13.443737 96 60 3473 132 ENST00000357033.4 0.049505 0.999968 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 34150506 34150506 __UNKNOWN__ IGR SNP C C T rs2939997 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:34150506C>T NA NA FAM47A (59 upstream) : RP11-545D19.1 (74335 downstream) NA NA NA TTCCTGGAGGCGGAGCAGCGC 0.582 NA C||| 1993 0.527947 0.3744 0.3919 3775 , , NA 11996 0.3611 NA 0.5338 False NA ,,, NA NA NA 2504 0.3323 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.34150506C>T NA hg19 0.02 1.860243 AGGxGGA COVERED NOVEL 0 0 3.310298 KEEP 0 0 0 11 366 CC 0.993072 0.992563 0 5 60 185 0 0 12.683752 78 60 2617 111 0.060241 0.999487 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 37003513 37003513 __UNKNOWN__ IGR SNP C C G rs28473748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:37003513C>G NA NA AL590285.1 (407948 upstream) : FAM47C (22918 downstream) NA NA NA AGAGCAACCGCACAGTGCTGC 0.577 NA G||| 1371 0.363179 0.6301 0.2349 3775 , , NA 10756 0.0962 NA 0.0785 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.37003513C>G NA hg19 0.02 5.782925 CCGxACA COVERED NOVEL 0 2 12.640844 KEEP 0 0 0 42 1468 CC 1 1 0 6 60 213 0 0 12.911707 163 60 6085 241 0.035503 1 FAM47C 442444 __UNKNOWN__ __UNKNOWN__ X 37028629 37028629 __UNKNOWN__ Missense_Mutation SNP G G C rs61999275 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:37028629G>C ENST00000358047.3 + 1 2198 c.2146G>C c.(2146-2148)Gcg>Ccg p.A716P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 716 NA breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CAGTCTCCACGCGGAGCCTCC 0.632 NA c||| 448 0.118675 0.1694 0.1023 3775 , , NA 11470 0.0665 NA 0.008 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 C PRO/ALA 675,3158 46,484,99,1101,472 45 45 45 2146 -0.2 0 X dbSNP_129 45 61,6666 1,43,16,2384,1855 no missense FAM47C NM_001013736.2 27 47,527,115,3485,2327 CC,CG,C,GG,G 0.9068,17.6102,6.9697 benign 716/1036 37028629 736,9824 2202 4299 6501 SO:0001583 missense AK125992 CCDS35227.1 Xp21.1 2006-07-04 ENSG00000198173 ENSG00000198173 442444 25301 protein-coding gene gene with protein product NA Standard NM_001013736 NM_001013736 NA Approved uc004ddl.2 Q5HY64 OTTHUMG00000024025 ENST00000358047.3:c.2146G>C chrX.hg19:g.37028629G>C ENSP00000367913:p.Ala716Pro NA Q6ZU46 hg19 CCDS35227.1 0.02 9.493755 CACxCGG COVERED 151 0.09101868595539482 53 0.12211981566820276 21 0.059322033898305086 25 0.04528985507246377 8 0.010582010582010581 - 0.006 -2.020644 0.00418 0.176102 0.009068 ENSG00000198173 ENST00000358047 T 0.13089 2.62 0.99 -0.175 0.13315 . . . . . T 0.00012 0.0000 N 0.00053 -2.39 0.80722 P 0.0 B 0.06786 0.001 B 0.12156 0.007 T 0.27606 -1.0069 8 0.02654 T 1 . 2.3898 0.04375 0.0:0.2644:0.2908:0.4448 rs61999275 716 Q5HY64 FA47C_HUMAN P 716 ENSP00000367913:A716P ENSP00000367913:A716P A + 1 0 FAM47C 36938550 0.007000 0.16637 0.001000 0.08648 0.001000 0.01503 0.234000 0.17930 -1.182000 0.02727 -1.215000 0.01618 GCG NOVEL FAM47C-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060508.1 2 8.427789 KEEP 0 0 0 28 1017 GG 0.999997 0.999997 0 + 10 60 325 0 0 20.317442 191 60 6320 279 ENST00000358047.3 0.049751 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 37029778 37029778 __UNKNOWN__ IGR SNP A A G rs28592679 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:37029778A>G NA NA FAM47C (39 upstream) : PRRG1 (178749 downstream) NA NA NA TATCATTTATATGATTAATAT 0.249 NA N||| 448 0.118675 0.1694 0.1023 3775 , , NA 13465 0.0665 NA 0.008 False NA ,,, NA NA NA 2504 0.0798 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.37029778A>G NA hg19 0.02 6.105886 TATxTGA COVERED NOVEL 0 1 3.00777 KEEP 0 0 0 10 294 AA 0.992708 0.992708 0 8 60 283 0 0 17.740764 181 60 6597 198 0.042328 1 TM4SF2 0 __UNKNOWN__ __UNKNOWN__ X 38144822 38144822 __UNKNOWN__ Intron SNP C C T rs12688514 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:38144822C>T ENST00000465127.1 + 4 278 RPGR_ENST00000339363.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.V1144I NA NA haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGTGGTAATACATTATTCCAG 0.403 NA C||| 676 0.179073 0.0015 0.1513 3775 , , NA 12085 0.2897 NA 0.0626 False NA ,,, NA NA NA 2504 0.2188 NA NA NA NA 0 ILE/VAL, 70,3763 0,55,15,1576,556 135 118 124 3430, 2.7 1 X dbSNP_120 124 582,6146 16,399,151,2013,1721 yes missense,intron RPGR NM_001034853.1,NM_000328.2 29, 16,454,166,3589,2277 TT,TC,T,CC,C 8.6504,1.8262,6.1737 possibly-damaging, 1144/1153, 38144822 652,9909 2202 4300 6502 SO:0001627 intron_variant NA NA NA NA ENST00000465127.1:c.172-380553C>T chrX.hg19:g.38144822C>T NA hg19 0.02 15.922156 ATAxATT COVERED 256 0.15430982519590114 1 0.0020325203252032522 31 0.09337349397590361 110 0.23605150214592274 35 0.04755434782608696 c 10.75 1.437888 0.25900 0.018262 0.086504 ENSG00000156313 ENST00000378505 T 0.55413 0.52 3.6 2.72 0.32119 . . . . . T 0.00012 0.0000 . . . 0.09310 P 0.999999999520028 P 0.43094 0.799 B 0.30782 0.12 T 0.08472 -1.0720 7 0.87932 D 0 . 7.2407 0.26094 0.0:0.7661:0.0:0.2339 rs12688514;rs12688514 1144 E9PE28 . I 1144 ENSP00000367766:V1144I ENSP00000367766:V1144I V - 1 0 RPGR 38029766 1.000000 0.71417 0.987000 0.45799 0.962000 0.63368 2.037000 0.41174 0.649000 0.30751 0.413000 0.27773 GTA NOVEL TM4SF2-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363378.1 3 11.13583 KEEP 0 0 0 37 1301 CC 1 1 0 + 22 60 808 0 0 54.363385 376 60 14086 499 ENST00000465127.1 0.055276 1 TM4SF2 0 __UNKNOWN__ __UNKNOWN__ X 38144856 38144856 __UNKNOWN__ Intron SNP G G A rs12687163 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:38144856G>A ENST00000465127.1 + 4 278 RPGR_ENST00000339363.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000378505.2_Silent_p.N1132N NA NA haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 CTGATGGCCCGTTTTTTAAAA 0.378 NA G||| 986 0.261192 0.0787 0.1556 3775 , , NA 12241 0.4573 NA 0.0626 False NA ,,, NA NA NA 2504 0.2556 NA NA NA NA 0 , 402,3431 17,292,76,1322,495 201 183 190 ,3396 -0.1 0 X dbSNP_120 190 583,6145 16,400,151,2012,1721 no intron,coding-synonymous RPGR NM_000328.2,NM_001034853.1 , 33,692,227,3334,2216 AA,AG,A,GG,G 8.6653,10.4879,9.3268 , ,1132/1153 38144856 985,9576 2202 4300 6502 SO:0001627 intron_variant NA NA NA NA ENST00000465127.1:c.172-380519G>A chrX.hg19:g.38144856G>A NA hg19 0.02 23.274213 CCCxTTT COVERED NOVEL TM4SF2-001 PUTATIVE basic|appris_principal|readthrough_transcript protein_coding NA protein_coding OTTHUMT00000363378.1 3 15.650558 KEEP 0 0 0 52 1808 GG 1 1 0 + 34 60 1242 0 0 85.602198 502 60 17500 729 ENST00000465127.1 0.063433 1 TSPAN7 7102 __UNKNOWN__ __UNKNOWN__ X 38505492 38505492 __UNKNOWN__ Intron SNP T T C rs73198486 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:38505492T>C ENST00000378482.2 + 2 258 TSPAN7_ENST00000422612.2_Intron|TM4SF2_ENST00000465127.1_Intron|TSPAN7_ENST00000286824.6_Intron|TSPAN7_ENST00000488893.1_Intron|TSPAN7_ENST00000545599.1_Intron NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 NA NA viral process (GO:0016032) integral component of plasma membrane (GO:0005887) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 TATAATATCTTTTGTATTACA 0.328 NA T||| 525 0.139073 0.0454 0.0908 3775 , , NA 13429 0.2192 NA 0.0527 False NA ,,, NA NA NA 2504 0.1309 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant D29808 CCDS14248.1 Xp11.4 2013-02-14 2005-03-21 2005-03-21 ENSG00000156298 ENSG00000156298 7102 CD molecules, Tetraspanins 11854 protein-coding gene gene with protein product 300096 transmembrane 4 superfamily member 2, mental retardation, X-linked 58 MXS1, TM4SF2, MRX58 NA 12070254 Standard NM_004615 NA Approved DXS1692E, TALLA-1, A15, CD231 uc004deg.4 P41732 OTTHUMG00000024090 ENST00000378482.2:c.82-19883T>C chrX.hg19:g.38505492T>C NA B2R5W7|D3DWB1|Q8WVG5|Q9UEY9 hg19 CCDS14248.1 0.02 4.62032 TCTxTTG COVERED NOVEL TSPAN7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000356412.1 2 6.617655 KEEP 0 0 0 22 632 TT 0.999879 0.999879 0 + 13 60 494 0 0 36.686485 130 60 4596 176 ENST00000378482.2 0.090909 1 BCOR 54880 __UNKNOWN__ __UNKNOWN__ X 39934488 39934488 __UNKNOWN__ Intron SNP C C T rs6610384 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:39934488C>T ENST00000378444.4 - 4 394 BCOR_ENST00000342274.4_Intron|BCOR_ENST00000378455.4_Intron|BCOR_ENST00000397354.3_Intron NM_001123385.1 NP_001116857.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor NA NA heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGCAGCAGCACCCAAAGACAC 0.557 NA F, N, S, T RARA retinoblastoma, AML, APL(translocation) oculo-facio-cardio-dental genetic c||| 1452 0.384636 0.416 0.1326 3775 , , NA 13159 0.5169 NA 0.0427 False NA ,,, NA NA NA 2504 0.2515 NA NA NA Rec yes X Xp11.4 54880 BCL6 corepressor yes 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF317391 CCDS14250.1, CCDS48092.1, CCDS48093.1 Xp11.4 2014-09-17 2010-06-10 ENSG00000183337 ENSG00000183337 54880 Ankyrin repeat domain containing 20893 protein-coding gene gene with protein product 300485 BCL6 co-repressor NA 10898795 Standard NM_017745 NM_017745 NA Approved FLJ20285, KIAA1575 uc004den.4 Q6W2J9 OTTHUMG00000024100 ENST00000378444.4:c.166-55G>A chrX.hg19:g.39934488C>T NA D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2 hg19 CCDS48093.1 0.02 2.19615 GCAxCCA COVERED NOVEL BCOR-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000060666.2 0 2.407937 KEEP 0 0 0 8 290 CC 0.99257 0.991687 0 - 5 60 170 0 0 11.302945 74 60 2542 105 ENST00000378444.4 0.063291 0.99911 USP9X 8239 __UNKNOWN__ __UNKNOWN__ X 41056594 41056594 __UNKNOWN__ Intron SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:41056594A>C ENST00000378308.2 + 29 4866 USP9X_ENST00000324545.8_Intron Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked NA NA axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511) apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020) co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TCCCCCCCCCACCCCACCCCC 0.498 NA NA NA NA NA NA NA NA NA NA Ovarian(172;1807 2695 35459 49286) NA 0 8 7 7 NA NA X NA 41056594 1756 3976 5732 SO:0001627 intron_variant X98296 CCDS43930.1, CCDS55403.1 Xp11.4 2010-08-03 2006-02-14 ENSG00000124486 ENSG00000124486 8239 Ubiquitin-specific peptidases 12632 protein-coding gene gene with protein product 300072 ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila), ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila), ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila) NA 8922996 Standard NM_004652 NM_001039590 NA Approved DFFRX, FAF uc004dfb.3 Q93008 OTTHUMG00000021367 ENST00000378308.2:c.4234-23A>C chrX.hg19:g.41056594A>C NA O75550|Q8WWT3|Q8WX12 hg19 CCDS55403.1 0.02 -0.372326 CCCxCCC COVERED NOVEL USP9X-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056248.2 1 5.054893 KEEP 0 0 0 17 408 AA 0.999859 0.908941 0 + 7 60 168 0 0 12.105458 34 60 870 83 ENST00000378308.2 0.170732 0.909069 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 41138385 41138385 __UNKNOWN__ IGR SNP G G A rs6610528 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:41138385G>A NA NA RP5-1172N10.2 (2354 upstream) : RNA5SP502 (13665 downstream) NA NA NA ggctcaaaccgtcttcctgct 0.473 NA A||| 2232 0.591258 0.5363 0.5346 3775 , , NA 11667 0.3671 NA 0.4264 False NA ,,, NA NA NA 2504 0.3609 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.41138385G>A NA hg19 0.02 -0.043865 ACCxTCT UNCOVERED NOVEL 0 4 3.009738 KEEP 0 0 0 10 350 GG 0.992708 0.023898 0 2 60 73 0 0 6.792813 3 60 108 18 0.4 0.024074 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 41274659 41274659 __UNKNOWN__ IGR SNP A A G rs4827275 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:41274659A>G NA NA DDX3X (50934 upstream) : NYX (32027 downstream) NA NA NA tacaggcagcaccaccatacc 0.547 NA A||| 1888 0.500132 0.2814 0.3487 3775 , , NA 8492 0.4444 NA 0.329 False NA ,,, NA NA NA 2504 0.5061 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.41274659A>G NA hg19 0.02 -0.078958 AGCxCCA UNCOVERED NOVEL 0 3 2.406668 KEEP 0 0 0 8 238 AA 0.99257 0.076761 0 2 60 82 0 0 7.083911 7 60 248 18 0.222222 0.077336 MAOA 4128 __UNKNOWN__ __UNKNOWN__ X 43591036 43591036 __UNKNOWN__ Silent SNP G G T rs6323 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:43591036G>T ENST00000338702.3 + 8 1014 c.891G>T c.(889-891)cgG>cgT p.R297R MAOA_ENST00000542639.1_Silent_p.R164R NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 297 NA cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) primary amine oxidase activity (GO:0008131) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909) TAATTCAGCGGCTTCCAATGG 0.423 NA T||| 2359 0.624901 0.6543 0.5331 3775 , , NA 14822 0.3224 NA 0.5427 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 GRCh37 CM073190 MAOA M rs6323 T 3272,563 1192,409,479,31,92 98 84 88 891 2.1 1 X dbSNP_52 88 4740,1988 1218,979,1325,231,547 no coding-synonymous MAOA NM_000240.2 2410,1388,1804,262,639 TT,TG,T,GG,G 29.5482,14.6806,24.1503 297/528 43591036 8012,2551 2203 4300 6503 SO:0001819 synonymous_variant CCDS14260.1, CCDS59163.1 Xp11.4-p11.3 2008-02-05 ENSG00000189221 ENSG00000189221 4128 1.4.3.4 6833 protein-coding gene gene with protein product 309850 NA Standard NM_000240 NM_000240 NA Approved uc004dfy.4 P21397 OTTHUMG00000021387 ENST00000338702.3:c.891G>T chrX.hg19:g.43591036G>T NA B4DF46|Q16426 hg19 CCDS14260.1 0.02 10.516667 GCGxCTT COVERED NOVEL MAOA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056300.1 1 8.377313 KEEP 0 2 66 51 1781 GG 1 1 0 + 10 60 363 0 0 22.589598 255 60 9532 395 ENST00000338702.3 0.037736 1 MAOA 4128 __UNKNOWN__ __UNKNOWN__ X 43603391 43603391 __UNKNOWN__ Silent SNP T T C rs1137070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:43603391T>C ENST00000338702.3 + 14 1533 c.1410T>C c.(1408-1410)gaT>gaC p.D470D MAOA_ENST00000542639.1_Silent_p.D337D NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 470 NA cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805) integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) primary amine oxidase activity (GO:0008131) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909) CCGAGAAAGATATCTGGGTAC 0.423 NA C||| 2083 0.551788 0.4879 0.4597 3775 , , NA 15525 0.3214 NA 0.5388 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 C 2378,1457 621,781,355,230,216 132 119 123 1410 -0.1 0 X dbSNP_86 123 4733,1995 1214,976,1329,238,543 no coding-synonymous MAOA NM_000240.2 1835,1757,1684,468,759 CC,CT,C,TT,T 29.6522,37.9922,32.6801 470/528 43603391 7111,3452 2203 4300 6503 SO:0001819 synonymous_variant CCDS14260.1, CCDS59163.1 Xp11.4-p11.3 2008-02-05 ENSG00000189221 ENSG00000189221 4128 1.4.3.4 6833 protein-coding gene gene with protein product 309850 NA Standard NM_000240 NM_000240 NA Approved uc004dfy.4 P21397 OTTHUMG00000021387 ENST00000338702.3:c.1410T>C chrX.hg19:g.43603391T>C NA B4DF46|Q16426 hg19 CCDS14260.1 0.02 6.733891 AGAxATC COVERED NOVEL MAOA-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056300.1 1 7.522284 KEEP 0 0 0 25 780 TT 0.999931 0.999931 0 + 9 60 335 0 0 22.680532 154 60 5529 221 ENST00000338702.3 0.055215 1 MAOB 4129 __UNKNOWN__ __UNKNOWN__ X 43626085 43626085 __UNKNOWN__ 3'UTR SNP A A G rs3027438 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:43626085A>G ENST00000378069.4 - 0 2338 NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B NA NA negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909) ACGGGACACCATCGGTAACTA 0.448 NA A||| 383 0.101457 0.0325 0.0677 3775 , , NA 14810 0.128 NA 0.004 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14261.1 Xp11.4-p11.3 2008-02-05 ENSG00000069535 ENSG00000069535 4129 1.4.3.4 6834 protein-coding gene gene with protein product 309860 NA Standard NM_000898 NM_000898 NA Approved uc004dfz.4 P27338 OTTHUMG00000021388 ENST00000378069.4:c.*628T>C chrX.hg19:g.43626085A>G NA B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2 hg19 CCDS14261.1 0.02 10.736518 ACCxTCG COVERED NOVEL MAOB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056303.1 2 10.229866 KEEP 0 0 0 34 1050 AA 0.999998 0.999998 0 - 9 60 323 0 0 19.42559 264 60 9680 353 ENST00000378069.4 0.032967 1 MAOB 4129 __UNKNOWN__ __UNKNOWN__ X 43626136 43626136 __UNKNOWN__ 3'UTR SNP A A G rs3027439 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:43626136A>G ENST00000378069.4 - 0 2287 NM_000898.4 NP_000889.3 P27338 AOFB_HUMAN monoamine oxidase B NA NA negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5) 21 Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909) AAACATCCAAAGAGGTGGGAA 0.458 NA G||| 506 0.13404 0.1218 0.0749 3775 , , NA 14287 0.128 NA 0.004 False NA ,,, NA NA NA 2504 0.1636 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14261.1 Xp11.4-p11.3 2008-02-05 ENSG00000069535 ENSG00000069535 4129 1.4.3.4 6834 protein-coding gene gene with protein product 309860 NA Standard NM_000898 NM_000898 NA Approved uc004dfz.4 P27338 OTTHUMG00000021388 ENST00000378069.4:c.*577T>C chrX.hg19:g.43626136A>G NA B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2 hg19 CCDS14261.1 0.02 9.982383 CAAxGAG COVERED NOVEL MAOB-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056303.1 0 7.220887 KEEP 0 0 0 24 745 AA 0.999909 0.999909 0 - 8 60 312 0 0 19.70283 238 60 8799 310 ENST00000378069.4 0.03252 1 EFHC2 80258 __UNKNOWN__ __UNKNOWN__ X 44007389 44007389 __UNKNOWN__ 5'UTR SNP A A C rs145141091 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:44007389A>C ENST00000343571.3 - 0 1222 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 NA NA calcium ion binding (GO:0005509) NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 ACATGCATATATTCCTAAGCT 0.303 NA A||| 31 0.00821192 0.0015 0.0086 3775 , , NA 11614 0.0 NA 0.0159 False NA ,,, NA NA NA 2504 0.0072 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AK026254 CCDS55405.1 Xp11 2014-01-31 ENSG00000183690 ENSG00000183690 80258 EF-hand domain containing 26233 protein-coding gene gene with protein product 300817 mental retardation, X-linked 74 MRX74 NA 17221867 Standard NM_025184 NM_025184 NA Approved FLJ22843 uc004dgb.4 Q5JST6 OTTHUMG00000021393 ENST00000343571.3:c.-262T>G chrX.hg19:g.44007389A>C NA Q5JST8|Q68DK4|Q8NEI0|Q9H653 hg19 0.02 4.319597 TATxTTC COVERED NOVEL EFHC2-003 KNOWN basic processed_transcript NA protein_coding OTTHUMT00000056314.1 0 5.115385 KEEP 0 0 0 17 534 AA 0.999366 0.999358 0 - 6 60 222 0 0 14.977543 103 60 3724 151 ENST00000343571.3 0.055046 0.999992 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 44494967 44494967 __UNKNOWN__ IGR SNP C C T rs5952602 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:44494967C>T NA NA AL136137.1 (58283 upstream) : RN7SL291P (137053 downstream) NA NA NA ATACCTTTCCCTGGGGGCTTG 0.522 NA C||| 2163 0.57298 0.4092 0.5216 3775 , , NA 13966 0.6696 NA 0.3449 False NA ,,, NA NA NA 2504 0.2434 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.44494967C>T NA hg19 0.02 3.669688 TCCxTGG COVERED NOVEL 0 1 3.61126 KEEP 0 0 0 12 402 CC 0.993634 0.993634 0 6 60 214 0 0 13.345904 143 60 5422 181 0.040268 1 KDM6A 7403 __UNKNOWN__ __UNKNOWN__ X 44938563 44938563 __UNKNOWN__ Silent SNP G G A rs20539 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:44938563G>A ENST00000377967.4 + 20 3152 c.3111G>A c.(3109-3111)caG>caA p.Q1037Q KDM6A_ENST00000382899.4_Silent_p.Q1044Q|KDM6A_ENST00000543216.1_Silent_p.Q958Q|KDM6A_ENST00000536777.1_Silent_p.Q992Q NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1037 Interaction with SUPT6H. {ECO:0000250}. NA canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525) histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634) dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978) p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AATATGCACAGTACCAGGCCT 0.358 NA D, N, F, S renal, oesophageal SCC, MM G||| 837 0.221722 0.0091 0.3386 3775 , , NA 12635 0.2381 NA 0.16 False NA ,,, NA NA NA 2504 0.1933 NA NA NA Colon(129;1273 1667 15230 27352 52914) Rec yes X Xp11.2 7403 lysine (K)-specific demethylase 6A, UTX E, L 6 Whole gene deletion(6) oesophagus(2)|breast(2)|pancreas(2) G 126,3709 5,103,13,1524,558 136 109 118 3111 0.2 1 X dbSNP_67 118 1268,5460 79,761,349,1588,1523 no coding-synonymous KDM6A NM_021140.2 84,864,362,3112,2081 AA,AG,A,GG,G 18.8466,3.2855,13.197 1037/1402 44938563 1394,9169 2203 4300 6503 SO:0001819 synonymous_variant AF000992 CCDS14265.1 Xp11.2 2014-09-17 2009-04-17 2009-04-17 ENSG00000147050 ENSG00000147050 7403 Chromatin-modifying enzymes / K-demethylases, Tetratricopeptide (TTC) repeat domain containing 12637 protein-coding gene gene with protein product 300128 ubiquitously transcribed tetratricopeptide repeat, X chromosome UTX NA 9499428, 9381176 Standard NM_021140 XM_005272655 NA Approved uc004dge.4 O15550 OTTHUMG00000021402 ENST00000377967.4:c.3111G>A chrX.hg19:g.44938563G>A NA Q52LL9|Q5JVQ7 hg19 CCDS14265.1 0.02 11.016106 ACAxTAC COVERED 374 0.22543701024713683 7 0.014285714285714285 69 0.24820143884892087 90 0.18518518518518517 86 0.12536443148688048 G 7.673 0.687468 0.14973 0.032855 0.188466 ENSG00000147050 ENST00000414389;ENST00000433797 . . . 5.6 0.226 0.15353 . . . . . T 0.00012 0.0000 . . . 0.09310 P 1.0 . . . . . . T 0.16660 -1.0395 3 . . . -8.1414 11.1997 0.48734 0.3721:0.0:0.6279:0.0 rs20539;rs4824526;rs17245004;rs52822280;rs4824526 . . . I 635;680 . . V + 1 0 KDM6A 44823507 1.000000 0.71417 0.998000 0.56505 0.991000 0.79684 1.819000 0.39022 -0.032000 0.13758 -0.198000 0.12761 GTA NOVEL KDM6A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056324.1 2 15.639306 KEEP 0 0 0 52 1866 GG 1 1 0 + 8 60 307 0 0 18.516055 291 60 10935 439 ENST00000377967.4 0.026756 1 CXorf36 79742 __UNKNOWN__ __UNKNOWN__ X 45008291 45008291 __UNKNOWN__ 3'UTR SNP T T C rs6611070 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:45008291T>C ENST00000398000.2 - 0 3982 NM_176819.3 NP_789789.2 Q9H7Y0 DIA1R_HUMAN chromosome X open reading frame 36 NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(2)|lung(4) 7 GGCAAGTGCTTACCTTGAACC 0.527 NA C||| 2093 0.554437 0.2905 0.4496 3775 , , NA 15319 0.5556 NA 0.3668 False NA ,,, NA NA NA 2504 0.4785 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF289581 CCDS14266.1, CCDS48096.1 Xp11.3-p11.23 2012-08-03 ENSG00000147113 ENSG00000147113 79742 25866 protein-coding gene gene with protein product NA 11944989, 21283809 Standard NM_024689 NM_176819 NA Approved FLJ14103, DIA1R uc004dgg.2 Q9H7Y0 OTTHUMG00000021403 ENST00000398000.2:c.*2606A>G chrX.hg19:g.45008291T>C NA A8MUU5|B2RPN7|Q6UWJ5 hg19 CCDS48096.1 0.02 15.131661 GCTxACC COVERED NOVEL CXorf36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056333.2 0 8.124045 KEEP 0 0 0 27 828 TT 0.999988 0.999988 0 - 21 60 779 0 0 54.690347 286 60 10091 400 ENST00000398000.2 0.068404 1 CXorf36 79742 __UNKNOWN__ __UNKNOWN__ X 45010636 45010636 __UNKNOWN__ 3'UTR SNP C C T rs4074014 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:45010636C>T ENST00000398000.2 - 0 1637 CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 DIA1R_HUMAN chromosome X open reading frame 36 NA NA extracellular region (GO:0005576) endometrium(1)|large_intestine(2)|lung(4) 7 TGGTGGAGAACAgaggaaact 0.562 NA T||| 2089 0.553377 0.2912 0.4481 3775 , , NA 12970 0.5546 NA 0.3658 False NA ,,, NA NA NA 2504 0.4765 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF289581 CCDS14266.1, CCDS48096.1 Xp11.3-p11.23 2012-08-03 ENSG00000147113 ENSG00000147113 79742 25866 protein-coding gene gene with protein product NA 11944989, 21283809 Standard NM_024689 NM_176819 NA Approved FLJ14103, DIA1R uc004dgg.2 Q9H7Y0 OTTHUMG00000021403 ENST00000398000.2:c.*261G>A chrX.hg19:g.45010636C>T NA A8MUU5|B2RPN7|Q6UWJ5 hg19 CCDS48096.1 0.02 10.707165 GAAxAGA COVERED NOVEL CXorf36-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056333.2 0 8.426863 KEEP 0 0 0 28 970 CC 0.999997 0.999997 0 - 17 60 610 0 0 40.785346 282 60 10538 380 ENST00000398000.2 0.056856 1 SLC9A7 84679 __UNKNOWN__ __UNKNOWN__ X 46584508 46584508 __UNKNOWN__ Intron SNP C C T rs12842811 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:46584508C>T ENST00000328306.4 - 1 351 NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 NA NA ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802) potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385) breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 AAATCTGTTACGTTAATTTGG 0.318 NA T||| 889 0.235497 0.0189 0.2493 3775 , , NA 15840 0.1032 NA 0.4066 False NA ,,, NA NA NA 2504 0.182 NA NA NA Pancreas(118;454 1696 1930 13865 39976) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF298591 CCDS14269.1, CCDS75967.1 Xp11.3 2013-05-22 2012-03-22 ENSG00000065923 ENSG00000065923 84679 Solute carriers 17123 protein-coding gene gene with protein product 300368 solute carrier family 9 (sodium/hydrogen exchanger), isoform 7, solute carrier family 9 (sodium/hydrogen exchanger), member 7 NA 11279194 Standard NM_032591 NM_001257291 NA Approved NHE7 uc004dgv.2 Q96T83 OTTHUMG00000021428 ENST00000328306.4:c.325+33631G>A chrX.hg19:g.46584508C>T NA O75827|Q5JXP9 hg19 CCDS14269.1 0.02 6.49317 TTAxGTT COVERED NOVEL SLC9A7-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056370.1 0 5.718598 KEEP 0 0 0 19 665 CC 0.99986 0.99986 0 - 10 60 375 0 0 25.527913 169 60 6263 220 ENST00000328306.4 0.055866 1 TIMP1 7076 __UNKNOWN__ __UNKNOWN__ X 47444879 47444879 __UNKNOWN__ Intron SNP G G C rs5953060 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:47444879G>C ENST00000218388.4 + 5 498 SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_3'UTR|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000377018.2_Missense_Mutation_p.G83A NM_003254.2 NP_003245.1 P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 NA NA aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093) cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191) endometrium(1)|large_intestine(2) 3 CGGGCCTTTGGCAGCTTGGCA 0.592 NA c||| 1784 0.472583 0.3828 0.3184 3775 , , NA 11048 0.3452 NA 0.3479 False NA ,,, NA NA NA 2504 0.3671 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14281.1 Xp11.3-p11.23 2008-07-29 2005-08-08 ENSG00000102265 ENSG00000102265 7076 11820 protein-coding gene gene with protein product 305370 tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor) TIMP, CLGI NA Standard NM_003254 XM_005272645 NA Approved EPO uc004dif.3 P01033 OTTHUMG00000021447 ENST00000218388.4:c.329-63G>C chrX.hg19:g.47444879G>C NA Q14252|Q9UCU1 hg19 CCDS14281.1 0.02 10.92578 TTGxCAG COVERED 754|754 0.45449065702230257|0.45449065702230257 110|110 0.3089887640449438|0.3089887640449438 79|79 0.2762237762237762|0.2762237762237762 121|121 0.275|0.275 196|196 0.3234323432343234|0.3234323432343234 c|c 0.001|0.001 -2.932920|-2.932920 0.00053|0.00053 .|. .|. ENSG00000102265|ENSG00000102265 ENST00000445623|ENST00000377018 .|. .|. .|. 3.38|3.38 1.53|1.53 0.23141|0.23141 .|. .|. .|. .|. .|. T|T 0.00012|0.00012 0.0000|0.0000 .|. .|. .|. 0.80722|0.80722 P|P 0.0|0.0 .|B .|0.02656 .|0.0 .|B .|0.01281 .|0.0 T|T 0.26916|0.26916 -1.0089|-1.0089 3|6 .|0.87932 .|D .|0 .|. 3.2167|3.2167 0.06701|0.06701 0.0:0.5004:0.2209:0.2787|0.0:0.5004:0.2209:0.2787 rs5953060;rs6520276;rs59378722|rs5953060;rs6520276;rs59378722 .|83 .|B4DJK3 .|. P|A 47|83 .|. .|ENSP00000366217:G83A A|G +|+ 1|2 0|0 TIMP1|TIMP1 47329823|47329823 0.006000|0.006000 0.16342|0.16342 0.000000|0.000000 0.03702|0.03702 0.004000|0.004000 0.04260|0.04260 0.019000|0.019000 0.13444|0.13444 -0.005000|-0.005000 0.14395|0.14395 -0.279000|-0.279000 0.10071|0.10071 GCA|GGC NOVEL TIMP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056423.1 4 16.853035 KEEP 0 0 0 56 1955 GG 1 1 0 + 10 60 369 0 0 23.207696 254 60 9262 376 ENST00000218388.4 0.037879 1 TIMP1 7076 __UNKNOWN__ __UNKNOWN__ X 47445286 47445286 __UNKNOWN__ Intron SNP A A G rs6609533 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:47445286A>G ENST00000218388.4 + 5 623 SYN1_ENST00000340666.4_Intron|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000456754.2_3'UTR|TIMP1_ENST00000377017.1_Intron|TIMP1_ENST00000377018.2_Missense_Mutation_p.T219A NM_003254.2 NP_003245.1 P01033 TIMP1_HUMAN TIMP metallopeptidase inhibitor 1 NA NA aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434) basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093) cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191) endometrium(1)|large_intestine(2) 3 CCGTGTGATCACCTGTCCCTC 0.537 NA g||| 1787 0.473377 0.3828 0.3199 3775 , , NA 12028 0.3472 NA 0.3499 False NA ,,, NA NA NA 2504 0.365 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14281.1 Xp11.3-p11.23 2008-07-29 2005-08-08 ENSG00000102265 ENSG00000102265 7076 11820 protein-coding gene gene with protein product 305370 tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor) TIMP, CLGI NA Standard NM_003254 XM_005272645 NA Approved EPO uc004dif.3 P01033 OTTHUMG00000021447 ENST00000218388.4:c.453+220A>G chrX.hg19:g.47445286A>G NA Q14252|Q9UCU1 hg19 CCDS14281.1 0.02 33.81005 ATCxCCT COVERED 759 0.45750452079566006 110 0.3089887640449438 80 0.27972027972027974 124 0.2818181818181818 199 0.32838283828382836 g 11.64 1.698777 0.30142 . . ENSG00000102265 ENST00000377018 . . . 3.89 -1.41 0.08941 . . . . . T 0.00012 0.0000 . . . 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.44019 -0.9355 5 . . . . 6.1334 0.20217 0.3058:0.4382:0.2559:0.0 rs6609533;rs61595407;rs6609533 219 B4DJK3 . A 219 . . T + 1 0 TIMP1 47330230 0.000000 0.05858 0.000000 0.03702 0.006000 0.05464 -0.854000 0.04299 -0.867000 0.04063 -1.428000 0.01097 ACC NOVEL TIMP1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056423.1 3 49.642399 KEEP 0 0 0 165 5038 AA 1 1 0 + 24 60 791 0 0 43.718998 830 60 29024 1243 ENST00000218388.4 0.028103 1 ZNF630 57232 __UNKNOWN__ __UNKNOWN__ X 47919618 47919618 __UNKNOWN__ Intron SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:47919618T>A ENST00000276054.4 - 5 805 ZNF630_ENST00000409324.3_Intron|ZNF630_ENST00000442455.3_Intron|ZNF630-AS1_ENST00000436124.1_RNA Q2M218 ZN630_HUMAN zinc finger protein 630 NA NA regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 AGAGGGAAAATCAAATacaca 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 26 17 19 NA NA X NA 47919618 688 1578 2266 SO:0001627 intron_variant AK000580 CCDS35237.2, CCDS75971.1 Xp11.3-p11.1 2013-01-08 ENSG00000221994 ENSG00000221994 57232 Zinc fingers, C2H2-type, - 28855 protein-coding gene gene with protein product 300819 NA Standard NM_001037735 NM_001037735 NA Approved BC037316, dJ54B20.2, FLJ20573, MGC138344 uc004div.4 Q2M218 OTTHUMG00000021463 ENST00000276054.4:c.130-30A>T chrX.hg19:g.47919618T>A NA F8WAG4|Q5H8Z5 hg19 0.02 1.792714 AAAxCAA COVERED NOVEL ZNF630-002 NOVEL basic|exp_conf protein_coding NA protein_coding OTTHUMT00000056456.2 3 6.124306 KEEP 0 1 24 29 888 TT 0.999997 0.999997 0 - 9 70 181 0 0 8.43619 120 70 3447 177 ENST00000276054.4 0.069767 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 48072303 48072303 __UNKNOWN__ IGR SNP C C T rs5905660 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:48072303C>T NA NA RNA5SP503 (6494 upstream) : SSX1 (42448 downstream) NA NA NA TCTAAAGGACCAGAGAACCTT 0.443 NA -||| 1421 0.376424 0.289 0.2522 3775 , , NA 13994 0.2609 NA 0.3022 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 C 495,923 70,242,113,230,221 150 143 145 -0.6 0 X dbSNP_114 145 1250,1857 180,546,344,390,531 no intergenic 250,788,457,620,752 TT,TC,T,CC,C 40.2317,34.9083,38.5635 48072303 1745,2780 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.48072303C>T NA hg19 0.02 -0.333387 GACxAGA COVERED NOVEL 0 1 2.407948 KEEP 0 0 0 8 292 CC 0.99257 0.845654 0 3 60 114 0 0 8.274026 35 60 1333 60 0.078947 0.851984 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 48072310 48072310 __UNKNOWN__ IGR SNP C C T rs5905661 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:48072310C>T NA NA RNA5SP503 (6501 upstream) : SSX1 (42441 downstream) NA NA NA GACCAGAGAACCTTTGTCCCT 0.453 NA -||| 1421 0.376424 0.289 0.2522 3775 , , NA 13901 0.2609 NA 0.3022 False NA ,,, NA NA NA 2504 0.3037 NA NA NA NA 0 C 495,923 70,242,113,230,221 138 132 134 1.4 0 X dbSNP_114 134 1250,1857 180,546,344,390,531 no intergenic 250,788,457,620,752 TT,TC,T,CC,C 40.2317,34.9083,38.5635 48072310 1745,2780 876 1991 2867 SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.48072310C>T NA hg19 0.02 -0.307004 GAAxCTT COVERED NOVEL 0 1 2.407877 KEEP 0 0 0 8 283 CC 0.99257 0.7943 0 4 60 145 0 0 11.008208 31 60 1144 56 0.114286 0.800245 FTSJ1 24140 __UNKNOWN__ __UNKNOWN__ X 48339985 48339985 __UNKNOWN__ Intron SNP C C T rs2070991 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:48339985C>T ENST00000348411.2 + 9 894 FTSJ1_ENST00000496365.1_Intron|FTSJ1_ENST00000456787.1_Intron|FTSJ1_ENST00000019019.2_Intron|FTSJ1_ENST00000396894.4_Intron NM_012280.2 NP_036412.1 FtsJ RNA methyltransferase homolog 1 (E. coli) NA NA breast(1)|central_nervous_system(1)|lung(4)|skin(1) 7 GAGGAGGAAGCGGCAGTCATG 0.657 NA C||| 1112 0.29457 0.1732 0.2723 3775 , , NA 12287 0.3254 NA 0.1193 False NA ,,, NA NA NA 2504 0.2515 NA NA NA NA 0 ,, 941,2894 98,610,135,924,436 48 36 40 ,, -0.2 0 X dbSNP_96 40 1321,5407 95,749,382,1584,1490 no intron,intron,intron FTSJ1 NM_012280.2,NM_177434.1,NM_177439.1 ,, 193,1359,517,2508,1926 TT,TC,T,CC,C 19.6344,24.5372,21.4144 ,, ,, 48339985 2262,8301 2203 4300 6503 SO:0001627 intron_variant AJ005892 CCDS14294.1, CCDS14295.1, CCDS75972.1 Xp11.23 2012-06-12 2012-06-12 ENSG00000068438 ENSG00000068438 24140 13254 protein-coding gene gene with protein product tRNA methyltransferase 7 homolog (S. cerevisiae) 300499 mental retardation, X-linked 9, mental retardation, X-linked 44 MRX9, MRX44 NA 15342698, 15162322 Standard XR_246715 NA Approved JM23, CDLIV, SPB1, TRM7, TRMT7 uc004djo.1 Q9UET6 OTTHUMG00000024118 ENST00000348411.2:c.572-35C>T chrX.hg19:g.48339985C>T NA hg19 CCDS14294.1 0.02 14.683926 AAGxGGC COVERED NOVEL FTSJ1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000060726.1 2 18.021944 KEEP 0 0 0 60 2021 CC 1 1 0 + 11 60 396 0 0 23.386153 358 60 12341 496 ENST00000348411.2 0.02981 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 48881096 48881096 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:48881096G>T NA NA RN7SL139P (16820 upstream) : TFE3 (5145 downstream) NA NA NA ttgcttttttgtttgtttttt 0.428 NA N||| 8 0.00211921 0.0 0.0029 3775 , , NA 18599 0.001 NA 0.001 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.48881096G>T NA hg19 0.02 -0.026319 TTTxTTT UNCOVERED NOVEL 0 4 2.407852 KEEP 0 0 0 8 285 GG 0.99257 0 0 2 40 70 0 0 7.953938 0 0 0 13 1 0 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 48881100 48881100 __UNKNOWN__ IGR SNP G G T rs374771238|rs58726965 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:48881100G>T NA NA RN7SL139P (16824 upstream) : TFE3 (5141 downstream) NA NA NA ttttttgtttgtttttttttt 0.428 NA N||| 100 0.0264901 0.0613 0.0072 3775 , , NA 17449 0.006 NA 0.005 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.48881100G>T NA hg19 0.02 -0.026273 TTTxTTT UNCOVERED NOVEL 0 4 2.708513 KEEP 0 0 0 9 307 GG 0.99254 0 0 2 40 55 0 0 6.447218 0 0 0 14 1 0 TFE3 7030 __UNKNOWN__ __UNKNOWN__ X 48900831 48900831 __UNKNOWN__ 5'UTR SNP C C T rs373639502 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:48900831C>T ENST00000315869.7 - 0 181 NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 NA NA humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212) NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 AGTCCCCCCTCCCCCCAGCTC 0.711 NA T SFPQ, ASPSCR1, PRCC, NONO, CLTC papillary renal, alveolar soft part sarcoma, renal C||| 10 0.00264901 0.0 0.0 3775 , , NA 6957 0.0099 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA Dom yes X Xp11.22 7030 transcription factor binding to IGHM enhancer 3 E 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant X96717 CCDS14315.3 Xp11.22 2013-05-21 ENSG00000068323 ENSG00000068323 7030 Basic helix-loop-helix proteins 11752 protein-coding gene gene with protein product transcription factor E family, member A 314310 NA 1672758, 1685140 Standard NM_006521 NM_006521 NA Approved TFEA, bHLHe33 uc004dmb.3 P19532 OTTHUMG00000022690 ENST00000315869.7:c.-79G>A chrX.hg19:g.48900831C>T NA A8MZL6|Q5JU74|Q92757|Q92758|Q99964 hg19 CCDS14315.3 0.02 5.807688 CCTxCCC COVERED NOVEL TFE3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058872.2 1 53.267822 KEEP 0 0 0 177 6180 CC 1 1 0 - 8 60 267 0 0 16.850791 147 60 5305 436 ENST00000315869.7 0.051613 1 PRICKLE3 4007 __UNKNOWN__ __UNKNOWN__ X 49032439 49032439 __UNKNOWN__ Silent SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49032439G>A ENST00000376317.3 - 9 1525 c.1431C>T c.(1429-1431)cgC>cgT p.R477R PRICKLE3_ENST00000538114.1_Silent_p.R313R|PRICKLE3_ENST00000536904.1_Silent_p.R396R|PRICKLE3_ENST00000540849.1_Silent_p.R409R NM_006150.3 NP_006141.2 O43900 PRIC3_HUMAN prickle homolog 3 (Drosophila) 477 NA Missing (in Ref. 7; AAB92357). {ECO:0000305}. zinc ion binding (GO:0008270) breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2) 22 CCAGAGGGTCGCGGAAGCTGA 0.731 NA NA NA NA NA NA NA NA NA NA NA 0 10 11 10 NA NA X NA 49032439 2187 4266 6453 SO:0001819 synonymous_variant BC016856 CCDS14320.1 Xp11.23 2008-02-05 2007-09-18 2007-09-18 ENSG00000012211 ENSG00000012211 4007 6645 protein-coding gene gene with protein product 300111 LIM domain only 6 LMO6 NA 9344658 Standard NM_006150 XM_005272605 NA Approved uc004dmy.1 O43900 OTTHUMG00000024134 ENST00000376317.3:c.1431C>T chrX.hg19:g.49032439G>A NA B7Z8F2|O76007|Q53XR5 hg19 CCDS14320.1 0.02 16.214018 GTCxCGG COVERED . . . . . . . . . . - 7.678 0.688306 0.14973 . . ENSG00000012211 ENST00000453382 . . . 4.15 -8.29 0.01009 . 0.000000 0.37012 N 0.002285 . . . . . . 0.43947 D 0.996615 . . . . . . . . . . . . . -4.8101 1.9021 0.03270 0.1126:0.197:0.3724:0.318 . . . . X 490 . . R - 1 2 PRICKLE3 48919383 0.000000 0.05858 0.464000 0.27143 0.892000 0.51952 -7.050000 0.00045 -3.968000 0.00086 -0.328000 0.08392 CGA NOVEL PRICKLE3-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000060811.1 3 69.184573 KEEP 0 0 0 230 7976 GG 1 1 0 - 17 60 589 0 0 36.117505 404 60 14169 852 ENST00000376317.3 0.04038 1 SYP 6855 __UNKNOWN__ __UNKNOWN__ X 49047325 49047325 __UNKNOWN__ 3'UTR SNP A A G rs3817678 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49047325A>G ENST00000479808.1 - 0 1523 SYP_ENST00000263233.4_Intron|SYP_ENST00000538567.1_Intron P08247 SYPH_HUMAN synaptophysin NA NA cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499) cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021) cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) ACCTTTCCAGAACCCCACCCT 0.572 NA g||| 2159 0.571921 0.6286 0.4539 3775 , , NA 12714 0.5198 NA 0.2396 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X06389 CCDS14321.1 Xp11.23-p11.22 2014-02-19 ENSG00000102003 ENSG00000102003 6855 11506 protein-coding gene gene with protein product 313475 NA 3120152, 19377476 Standard NM_003179 NM_003179 NA Approved MRX96 uc004dmz.1 P08247 OTTHUMG00000034557 ENST00000479808.1:c.*569T>C chrX.hg19:g.49047325A>G NA B2R7L6|B7Z359|Q6P2F7 hg19 CCDS14321.1 0.02 12.304138 CAGxACC COVERED NOVEL SYP-004 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357748.1 11 24.174757 KEEP 0 1 36 93 2804 AA 1 1 0 - 19 60 667 0 0 43.845761 326 60 11315 538 ENST00000479808.1 0.055072 1 SYP 6855 __UNKNOWN__ __UNKNOWN__ X 49047619 49047619 __UNKNOWN__ 3'UTR SNP T T C rs2293945 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49047619T>C ENST00000479808.1 - 0 1229 SYP_ENST00000263233.4_Intron|SYP_ENST00000538567.1_Intron P08247 SYPH_HUMAN synaptophysin NA NA cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499) cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021) cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) TCTCTCCCCCTGCCTTTCCGC 0.537 NA c||| 2159 0.571921 0.6286 0.4539 3775 , , NA 14133 0.5208 NA 0.2386 False NA ,,, NA NA NA 2504 0.2536 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X06389 CCDS14321.1 Xp11.23-p11.22 2014-02-19 ENSG00000102003 ENSG00000102003 6855 11506 protein-coding gene gene with protein product 313475 NA 3120152, 19377476 Standard NM_003179 NM_003179 NA Approved MRX96 uc004dmz.1 P08247 OTTHUMG00000034557 ENST00000479808.1:c.*275A>G chrX.hg19:g.49047619T>C NA B2R7L6|B7Z359|Q6P2F7 hg19 CCDS14321.1 0.02 23.67478 CCCxGCC COVERED NOVEL SYP-004 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000357748.1 2 32.367356 KEEP 0 2 70 132 4117 TT 1 1 0 - 33 60 1124 0 0 73.797417 524 60 19209 817 ENST00000479808.1 0.059246 1 CACNA1F 778 __UNKNOWN__ __UNKNOWN__ X 49071964 49071964 __UNKNOWN__ Silent SNP A A G rs2075866 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49071964A>G ENST00000376265.2 - 28 3370 c.3309T>C c.(3307-3309)caT>caC p.H1103H CACNA1F_ENST00000323022.5_Silent_p.H1092H|CACNA1F_ENST00000376251.1_Silent_p.H1038H NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1103 Dihydropyridine binding. {ECO:0000250}. NA axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) AGATGGGGCCATGGTCCTCTG 0.522 NA g||| 2084 0.552053 0.6278 0.4481 3775 , , NA 9881 0.5179 NA 0.2097 False NA ,,, NA NA NA 2504 0.2147 NA NA NA NA 0 2842,993 912,603,415,117,156 99 80 86 3309 -0.1 0 X dbSNP_96 86 1971,4757 217,988,549,1223,1323 no coding-synonymous CACNA1F NM_005183.2 1129,1591,964,1340,1479 GG,GA,G,AA,A 29.2955,25.8931,45.5647 1103/1978 49071964 4813,5750 2203 4300 6503 SO:0001819 synonymous_variant AA019975 CCDS35253.1, CCDS59166.1, CCDS59167.1 Xp11.23 2013-01-23 2007-02-16 ENSG00000102001 ENSG00000102001 778 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1393 protein-coding gene gene with protein product 300110 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) CSNB2, AIED NA 9344658, 9662400, 16382099, 12111638, 17525176 Standard NM_005183 NM_005183 NA Approved Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2 uc010nip.3 O60840 OTTHUMG00000022703 ENST00000376265.2:c.3309T>C chrX.hg19:g.49071964A>G NA A6NI29|F5CIQ9|O43901|O95226|Q9UHB1 hg19 CCDS35253.1 0.02 6.395394 GCCxTGG COVERED NOVEL CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358157.1 0 5.114952 KEEP 0 0 0 17 519 AA 0.999366 0.999366 0 - 8 60 287 0 0 18.819434 148 60 5348 194 ENST00000376265.2 0.051282 1 CACNA1F 778 __UNKNOWN__ __UNKNOWN__ X 49084492 49084492 __UNKNOWN__ Intron SNP C C T rs6609854 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49084492C>T ENST00000376265.2 - 8 1180 CACNA1F_ENST00000323022.5_Intron|CACNA1F_ENST00000376251.1_Intron NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit NA NA axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891) high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661) tgtctaggtccCTCACCCACT 0.537 NA c||| 1347 0.356821 0.1301 0.3487 3775 , , NA 14993 0.5188 NA 0.2008 False NA ,,, NA NA NA 2504 0.2127 NA NA NA NA 0 C 742,3093 52,539,99,1041,472 98 61 74 0.5 0.4 X dbSNP_116 74 1849,4879 183,967,516,1278,1356 no intron CACNA1F NM_005183.2 235,1506,615,2319,1828 TT,TC,T,CC,C 27.4822,19.3481,24.529 49084492 2591,7972 2203 4300 6503 SO:0001627 intron_variant AA019975 CCDS35253.1, CCDS59166.1, CCDS59167.1 Xp11.23 2013-01-23 2007-02-16 ENSG00000102001 ENSG00000102001 778 Calcium channel subunits, Voltage-gated ion channels / Calcium channels 1393 protein-coding gene gene with protein product 300110 Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) CSNB2, AIED NA 9344658, 9662400, 16382099, 12111638, 17525176 Standard NM_005183 NM_005183 NA Approved Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2 uc010nip.3 O60840 OTTHUMG00000022703 ENST00000376265.2:c.1118+5G>A chrX.hg19:g.49084492C>T NA A6NI29|F5CIQ9|O43901|O95226|Q9UHB1 hg19 CCDS35253.1 0.02 8.665696 GTCxCTC COVERED NOVEL CACNA1F-007 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000358157.1 1 4.95164 KEEP 0 1 33 28 999 CC 0.999997 0.999997 0 - 8 60 290 0 0 17.981551 207 60 7549 305 ENST00000376265.2 0.037209 1 CCDC22 28952 __UNKNOWN__ __UNKNOWN__ X 49103224 49103224 __UNKNOWN__ Silent SNP G G A rs2294020 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49103224G>A ENST00000376227.3 + 7 917 c.747G>A c.(745-747)caG>caA p.Q249Q NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 249 NA NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 AGCGGCTGCAGAAGCAACTGA 0.672 NA G||| 1760 0.466225 0.4425 0.389 3775 , , NA 11394 0.4851 NA 0.2028 False NA ,,, NA NA NA 2504 0.2168 NA NA NA NA 0 2100,1688 528,744,300,351,242 9 9 9 747 0.8 0.7 X dbSNP_100 9 1815,4840 200,917,498,1300,1323 no coding-synonymous CCDC22 NM_014008.3 728,1661,798,1651,1565 AA,AG,A,GG,G 27.2727,44.5618,37.4892 249/628 49103224 3915,6528 2165 4238 6403 SO:0001819 synonymous_variant BC000972 CCDS14322.1 Xp11.23 2008-02-05 2005-07-24 2005-07-24 ENSG00000101997 ENSG00000101997 28952 28909 protein-coding gene gene with protein product 300859 chromosome X open reading frame 37 CXorf37 NA 12477932 Standard NM_014008 NM_014008 NA Approved JM1 uc004dnd.2 O60826 OTTHUMG00000024141 ENST00000376227.3:c.747G>A chrX.hg19:g.49103224G>A NA A8K7G1 hg19 CCDS14322.1 0.02 2.164929 GCAxAAG COVERED NOVEL CCDC22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060822.1 0 5.718832 KEEP 0 0 0 19 688 GG 0.99986 0.997413 0 + 5 60 190 0 0 13.533388 66 60 2399 110 ENST00000376227.3 0.070423 0.997553 GAGE12I 26748 __UNKNOWN__ __UNKNOWN__ X 49217060 49217060 __UNKNOWN__ Intron SNP G G A rs77320340 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49217060G>A ENST00000415752.1 + 1 64 NM_001475.1|NM_001477.1|NM_021123.2 NP_001466.1|NP_001468.1|NP_066946.1 P0CL82 GG12I_HUMAN G antigen 12I NA NA NA Ovarian(276;0.236) ggggcgaggcgggcggTGAAG 0.711 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF055474 Xp11.23 2007-11-28 2007-07-23 2007-07-23 ENSG00000241465 26748 4105 protein-coding gene gene with protein product 300637 G antigen 7B GAGE7B NA 10397259 Standard NM_001477 NA Approved OTTHUMG00000067390 P0CL82 OTTHUMG00000067390 ENST00000415752.1:c.-9+338G>A chrX.hg19:g.49217060G>A NA Q66I50 hg19 CCDS56601.1 0.02 -0.131564 GGCxGGC COVERED NOVEL GAGE12I-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000144209.1 0 2.407503 KEEP 2 0 0 8 272 GG 0.99257 0.22747 0 + 4 60 143 0 0 12.431367 11 60 384 37 ENST00000415752.1 0.266667 0.229173 GAGE2A 729447 __UNKNOWN__ __UNKNOWN__ X 49360770 49360770 __UNKNOWN__ Intron SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:49360770G>T ENST00000362097.1 + 5 411 NM_001127212.1 NP_001120684.1 Q6NT46 GAG2A_HUMAN G antigen 2A NA NA endometrium(4) 4 Ovarian(276;0.236) AGACCGTTTAGTTCGTATCAT 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U19143 CCDS48114.1 Xp11.23 2009-03-17 2007-07-23 2007-07-23 ENSG00000189064 ENSG00000189064 729447 4099 protein-coding gene gene with protein product cancer/testis antigen family 4, member 2 300720 G antigen 2 GAGE2 NA 7544395 Standard NM_001127212 NA Approved CT4.2 Q6NT46 OTTHUMG00000024143 ENST00000362097.1:c.329-544G>T chrX.hg19:g.49360770G>T NA hg19 CCDS48114.1 0.02 34.981398 TTAxTTC COVERED NOVEL GAGE2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060827.3 25 112.376028 KEEP 110 6 193 441 15732 GG 1 1 0 + 21 24 767 0 0 43.672183 859 41 32257 1621 ENST00000362097.1 0.023864 1 GSPT2 23708 __UNKNOWN__ __UNKNOWN__ X 51486659 51486659 __UNKNOWN__ 5'UTR SNP C C T rs974285 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:51486659C>T ENST00000340438.4 + 0 179 NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 NA NA cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415) cytosol (GO:0005829) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ACCCCGCCGGCGGAGCCCGCT 0.657 NA C||| 2936 0.777748 0.5378 0.6297 3775 , , NA 11024 0.7044 NA 0.5199 False NA ,,, NA NA NA 2504 0.5675 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AI285711 CCDS14336.1 Xp11.22 2008-05-14 ENSG00000189369 ENSG00000189369 23708 4622 protein-coding gene gene with protein product 300418 NA 10575220 Standard NM_018094 NA Approved eRF3b, FLJ10441 uc004dpl.3 Q8IYD1 OTTHUMG00000021538 ENST00000340438.4:c.-64C>T chrX.hg19:g.51486659C>T NA Q9H909|Q9NVY0|Q9NY44 hg19 CCDS14336.1 0.02 3.797925 CGGxGGA COVERED NOVEL GSPT2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056587.1 1 5.248976 KEEP 0 1 30 28 909 CC 0.999997 0.999996 0 + 9 60 297 0 0 20.019436 114 60 3977 165 ENST00000340438.4 0.073171 0.999999 HUWE1 10075 __UNKNOWN__ __UNKNOWN__ X 53584418 53584418 __UNKNOWN__ Intron SNP G G A rs17276588 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:53584418G>A ENST00000342160.3 - 59 8618 HUWE1_ENST00000262854.6_Intron Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase NA NA base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634) DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACCAATGTGGGACTTTGCAAG 0.448 NA G||| 373 0.0988079 0.0038 0.1715 3775 , , NA 15235 0.2222 NA 0.0129 False NA ,,, NA NA NA 2504 0.0123 NA NA NA NA 0 G 44,3791 1,39,3,1592,568 100 89 93 -1.2 0 X dbSNP_123 93 154,6574 2,108,42,2318,1830 no intron HUWE1 NM_031407.4 3,147,45,3910,2398 AA,AG,A,GG,G 2.2889,1.1473,1.8745 53584418 198,10365 2203 4300 6503 SO:0001627 intron_variant AB071605 CCDS35301.1 Xp11.22 2014-06-09 2012-02-23 ENSG00000086758 ENSG00000086758 10075 30892 protein-coding gene gene with protein product 300697 HECT, UBA and WWE domain containing 1 NA 9205841, 10998601 Standard XM_497119 NM_031407 NA Approved Ib772, KIAA0312, UREB1 uc004dsp.4 Q7Z6Z7 OTTHUMG00000021617 ENST00000342160.3:c.8161-30C>T chrX.hg19:g.53584418G>A NA O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9 hg19 CCDS35301.1 0.02 4.238339 TGGxACT COVERED NOVEL HUWE1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056766.1 0 3.611828 KEEP 0 0 0 12 425 GG 0.993634 0.993634 0 - 9 60 322 0 0 21.965128 132 60 4936 184 ENST00000342160.3 0.06383 1 FGD1 2245 __UNKNOWN__ __UNKNOWN__ X 54472506 54472506 __UNKNOWN__ 3'UTR SNP G G A rs2230265 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:54472506G>A ENST00000375135.3 - 0 3655 NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 NA NA actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726) guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGCAACTAGAGTGTGGGGTGG 0.592 NA G||| 660 0.174834 0.0045 0.1888 3775 , , NA 10008 0.3502 NA 0.0596 False NA ,,, NA NA NA 2504 0.1125 NA NA NA NA 0 G 43,3582 0,34,9,1526,496 10 9 9 0.8 1 X dbSNP_98 9 423,5941 9,280,125,2050,1561 no utr-3 FGD1 NM_004463.2 9,314,134,3576,2057 AA,AG,A,GG,G 6.6468,1.1862,4.6651 54472506 466,9523 2065 4025 6090 SO:0001624 3_prime_UTR_variant U11690 CCDS14359.1 Xp11.21 2013-01-10 2008-08-01 ENSG00000102302 ENSG00000102302 2245 Zinc fingers, FYVE domain containing, Rho guanine nucleotide exchange factors, Pleckstrin homology (PH) domain containing 3663 protein-coding gene gene with protein product 300546 faciogenital dysplasia (Aarskog-Scott syndrome) FGDY NA Standard NM_004463 NM_004463 NA Approved ZFYVE3 uc004dtg.3 P98174 OTTHUMG00000021627 ENST00000375135.3:c.*36C>T chrX.hg19:g.54472506G>A NA Q5H999|Q8N4D9 hg19 CCDS14359.1 0.02 8.779479 AGAxTGT COVERED NOVEL FGD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056801.1 5 9.028802 KEEP 0 0 0 30 1051 GG 0.999997 0.999997 0 - 7 60 257 0 0 15.838008 195 60 7365 294 ENST00000375135.3 0.034653 1 MAGED2 10916 __UNKNOWN__ __UNKNOWN__ X 54836361 54836361 __UNKNOWN__ Silent SNP A A G rs1043031 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:54836361A>G ENST00000375068.1 + 3 485 c.252A>G c.(250-252)tcA>tcG p.S84S MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375053.2_Silent_p.S84S|MAGED2_ENST00000218439.4_Silent_p.S84S|MAGED2_ENST00000375058.1_Silent_p.S84S|MAGED2_ENST00000375060.1_Silent_p.S46S|MAGED2_ENST00000396224.1_Silent_p.S84S|MAGED2_ENST00000375062.4_Silent_p.S46S|MAGED2_ENST00000347546.4_Silent_p.S66S Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 84 NA membrane (GO:0016020) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 CCCAGGCCTCATCTACTACTC 0.547 NA A||| 1548 0.410066 0.2398 0.2911 3775 , , NA 13239 0.4534 NA 0.2992 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 A ,, 1090,2745 119,687,165,826,406 21 19 19 252,252,252 0.5 0 X dbSNP_86 19 2267,4457 252,1097,666,1078,1204 no coding-synonymous,coding-synonymous,coding-synonymous MAGED2 NM_014599.4,NM_177433.1,NM_201222.1 ,, 371,1784,831,1904,1610 GG,GA,G,AA,A 33.7151,28.4224,31.7928 ,, 84/607,84/607,84/607 54836361 3357,7202 2203 4297 6500 SO:0001819 synonymous_variant AF128527 CCDS14362.1 Xp11.2 2008-08-01 ENSG00000102316 ENSG00000102316 10916 16353 protein-coding gene gene with protein product hepatocellular carcinoma associated protein, breast cancer associated gene 1, melanoma-associated antigen D2, hepatocellular carcinoma-associated protein HCA10 300470 NA Standard NM_014599 NM_014599 NA Approved JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386 uc004dtk.1 Q9UNF1 OTTHUMG00000021638 ENST00000375068.1:c.252A>G chrX.hg19:g.54836361A>G NA A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52 hg19 CCDS14362.1 0.02 5.933275 CTCxTCT COVERED NOVEL MAGED2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056821.2 1 8.457217 KEEP 0 1 34 40 1198 AA 1 1 0 + 7 60 240 0 0 14.398384 179 60 6309 249 ENST00000375068.1 0.037634 1 MAGED2 10916 __UNKNOWN__ __UNKNOWN__ X 54837340 54837340 __UNKNOWN__ Silent SNP C C T rs1043044 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:54837340C>T ENST00000375068.1 + 4 857 c.624C>T c.(622-624)gcC>gcT p.A208A MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375053.2_Silent_p.A208A|MAGED2_ENST00000218439.4_Silent_p.A208A|MAGED2_ENST00000375058.1_Silent_p.A208A|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000396224.1_Silent_p.A208A|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000347546.4_Silent_p.A190A Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 208 NA membrane (GO:0016020) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 TCTCAAAGGCCCTAATGGCCT 0.602 NA C||| 1738 0.460397 0.3775 0.3084 3775 , , NA 12675 0.4494 NA 0.2992 False NA ,,, NA NA NA 2504 0.2771 NA NA NA NA 0 C ,, 1757,2078 349,813,246,470,325 38 37 38 624,624,624 0.9 1 X dbSNP_86 38 2277,4451 254,1101,668,1073,1204 no coding-synonymous,coding-synonymous,coding-synonymous MAGED2 NM_014599.4,NM_177433.1,NM_201222.1 ,, 603,1914,914,1543,1529 TT,TC,T,CC,C 33.8436,45.8149,38.1899 ,, 208/607,208/607,208/607 54837340 4034,6529 2203 4300 6503 SO:0001819 synonymous_variant AF128527 CCDS14362.1 Xp11.2 2008-08-01 ENSG00000102316 ENSG00000102316 10916 16353 protein-coding gene gene with protein product hepatocellular carcinoma associated protein, breast cancer associated gene 1, melanoma-associated antigen D2, hepatocellular carcinoma-associated protein HCA10 300470 NA Standard NM_014599 NM_014599 NA Approved JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386 uc004dtk.1 Q9UNF1 OTTHUMG00000021638 ENST00000375068.1:c.624C>T chrX.hg19:g.54837340C>T NA A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52 hg19 CCDS14362.1 0.02 4.171004 GGCxCTA COVERED NOVEL MAGED2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056821.2 0 9.63039 KEEP 0 0 0 32 1083 CC 0.999997 0.999997 0 + 5 60 175 0 0 10.764199 121 60 4316 178 ENST00000375068.1 0.039683 1 TRO 7216 __UNKNOWN__ __UNKNOWN__ X 54956673 54956673 __UNKNOWN__ Silent SNP T T C rs75851807 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:54956673T>C ENST00000173898.7 + 12 3628 c.3516T>C c.(3514-3516)ccT>ccC p.P1172P TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.P775P|TRO_ENST00000420798.2_Silent_p.P703P|TRO_ENST00000399736.1_Intron NM_001039705.2 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1172 62 X 10 AA approximate tandem repeats. NA embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308) cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TTGGTGGCCCTCCTAGCACCA 0.537 NA T||| 38 0.0100662 0.0 0.0 3775 , , NA 17898 0.0337 NA 0.0 False NA ,,, NA NA NA 2504 0.0041 NA NA NA NA 0 88 85 86 NA NA X NA 54956673 2026 4162 6188 SO:0001819 synonymous_variant U04811 CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1 Xp11.22-p11.21 2008-02-05 ENSG00000067445 ENSG00000067445 7216 12326 protein-coding gene gene with protein product 300132 NA 9533028, 11454705 Standard NM_016157 NM_001039705 NA Approved MAGE-D3, KIAA1114, MAGED3 uc004dtq.4 Q12816 OTTHUMG00000021640 ENST00000173898.7:c.3516T>C chrX.hg19:g.54956673T>C NA B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8 hg19 CCDS43959.1 0.02 13.736772 CCCxCCT COVERED NOVEL TRO-008 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056837.3 5 9.626316 KEEP 0 0 0 32 978 TT 0.999997 0.999997 0 + 10 60 351 0 0 20.688933 331 60 12058 431 ENST00000173898.7 0.029326 1 ALAS2 212 __UNKNOWN__ __UNKNOWN__ X 55051258 55051258 __UNKNOWN__ Missense_Mutation SNP G G A rs140052536 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:55051258G>A ENST00000396198.3 - 4 354 c.269C>T c.(268-270)gCg>gTg p.A90V ALAS2_ENST00000335854.4_Missense_Mutation_p.A66V|ALAS2_ENST00000330807.5_Missense_Mutation_p.A66V NM_001037968.3 NP_001033057.1 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 66 NA cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170) central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GTGGCCCTTCGCCCAAGATGG 0.478 NA NA NA NA NA NA NA NA NA NA NA 0 A VAL/ALA,VAL/ALA,VAL/ALA 1,3834 0,1,1631,571 145 108 121 197,197,269 4.2 0 X dbSNP_134 121 1,6727 0,1,2427,1872 yes missense,missense,missense ALAS2 NM_000032.4,NM_001037967.3,NM_001037968.3 64,64,64 0,2,4058,2443 AA,AG,GG,G 0.0149,0.0261,0.0189 benign,benign,benign 66/588,66/551,90/575 55051258 2,10561 2203 4300 6503 SO:0001583 missense CCDS14366.1, CCDS35303.1, CCDS43960.1 Xp11.21 2008-02-05 2008-02-04 ENSG00000158578 ENSG00000158578 212 2.3.1.37 397 protein-coding gene gene with protein product sideroblastic/hypochromic anemia 301300 aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ASB NA 1577484 Standard NM_000032 NM_000032 NA Approved uc004dua.4 P22557 OTTHUMG00000021641 ENST00000396198.3:c.269C>T chrX.hg19:g.55051258G>A ENSP00000379501:p.Ala90Val NA A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3 hg19 CCDS43960.1 0.02 12.762046 TTCxCCC COVERED .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. g|g 11.73|11.73 1.725927|1.725927 0.30593|0.30593 2.61E-4|2.61E-4 1.49E-4|1.49E-4 ENSG00000158578|ENSG00000158578 ENST00000330807;ENST00000396198;ENST00000335854|ENST00000455688 D;D;D|. 0.97430|. -4.24;-4.38;-4.31|. 5.02|5.02 4.16|4.16 0.48862|0.48862 5-aminolevulinate synthase presequence (1);|. 1.087690|. 0.06820|. N|. 0.792108|. T|. 0.20373|. 0.0490|. N|N 0.08118|0.08118 0|0 0.26563|0.26563 N|N 0.973703|0.973703 B;B;B|. 0.10296|. 0.0;0.001;0.003|. B;B;B|. 0.10450|. 0.002;0.004;0.005|. T|. 0.19582|. -1.0301|. 10|. 0.21014|. T|. 0.42|. -0.5821|-0.5821 10.4223|10.4223 0.44356|0.44356 0.096:0.0:0.904:0.0|0.096:0.0:0.904:0.0 .|. 66;90;66|. A8K6C4;Q5JZF5;P22557|. .;.;HEM0_HUMAN|. V|X 66;90;66|18 ENSP00000332369:A66V;ENSP00000379501:A90V;ENSP00000337131:A66V|. ENSP00000332369:A66V|. A|R -|- 2|1 0|2 ALAS2|ALAS2 55067983|55067983 0.009000|0.009000 0.17119|0.17119 0.046000|0.046000 0.18839|0.18839 0.731000|0.731000 0.41821|0.41821 0.535000|0.535000 0.23114|0.23114 1.052000|1.052000 0.40392|0.40392 -0.169000|-0.169000 0.13324|0.13324 GCG|CGA NOVEL ALAS2-007 NOVEL basic|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000056844.2 1 7.523975 KEEP 0 0 0 25 866 GG 0.999931 0.999931 0 - 10 60 363 0 0 21.821979 306 60 10555 407 ENST00000396198.3 0.031646 1 FAM104B 90736 __UNKNOWN__ __UNKNOWN__ X 55172516 55172516 __UNKNOWN__ 3'UTR SNP A A C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:55172516A>C ENST00000477847.2 - 0 473 FAM104B_ENST00000489298.1_3'UTR|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000425133.2_3'UTR|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron NM_001166702.1 NP_001160174.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B NA NA endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GTCCTAATTCATCATGTTGGA 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 28 18 21 NA NA X NA 55172516 692 1590 2282 SO:0001624 3_prime_UTR_variant BC000919 CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1 Xp11.22 2008-02-05 2006-05-16 2006-05-16 ENSG00000182518 ENSG00000182518 90736 25085 protein-coding gene gene with protein product chromosome X open reading frame 44 CXorf44 NA 12477932 Standard NM_138362 NM_138362 NA Approved FLJ20434 uc004dug.2 Q5XKR9 OTTHUMG00000021646 ENST00000477847.2:c.*1T>G chrX.hg19:g.55172516A>C NA A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1 hg19 CCDS55423.1 0.02 48.438846 TTCxTCA COVERED NOVEL FAM104B-003 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000056853.2 42 20.250712 KEEP 0 16 552 260 8190 AA 1 1 0 - 76 60 2814 0 0 204.857995 816 60 29816 1406 ENST00000477847.2 0.085202 1 FAM104B 90736 __UNKNOWN__ __UNKNOWN__ X 55172521 55172521 __UNKNOWN__ Missense_Mutation SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:55172521G>T ENST00000477847.2 - 3 468 c.335C>A c.(334-336)aCa>aAa p.T112K FAM104B_ENST00000489298.1_Missense_Mutation_p.T114K|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000425133.2_Missense_Mutation_p.T116K|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron NM_001166702.1 NP_001160174.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 NA endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 AATTCATCATGTTGGAGCTTG 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 29 20 22 NA NA X NA 55172521 692 1590 2282 SO:0001583 missense BC000919 CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1 Xp11.22 2008-02-05 2006-05-16 2006-05-16 ENSG00000182518 ENSG00000182518 90736 25085 protein-coding gene gene with protein product chromosome X open reading frame 44 CXorf44 NA 12477932 Standard NM_138362 NM_138362 NA Approved FLJ20434 uc004dug.2 Q5XKR9 OTTHUMG00000021646 ENST00000477847.2:c.335C>A chrX.hg19:g.55172521G>T ENSP00000421161:p.Thr112Lys NA A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1 hg19 CCDS55423.1 0.02 43.38277 CATxTTG COVERED . . . . . . . . . . g 8.588 0.883807 0.17467 . . ENSG00000182518 ENST00000425133;ENST00000477847;ENST00000489298 T;T;T 0.54866 0.55;0.55;0.55 1.6 1.6 0.23607 . . . . . T 0.30070 0.0753 N 0.19112 0.55 0.09310 N 1 P 0.41524 0.753 B 0.32022 0.139 T 0.17137 -1.0379 9 0.87932 D 0 . 6.0913 0.19995 0.0:0.0:1.0:0.0 . 116 Q5XKR9-3 . K 116;112;114 ENSP00000397188:T116K;ENSP00000421161:T112K;ENSP00000423164:T114K ENSP00000397188:T116K T - 2 0 FAM104B 55189246 0.987000 0.35691 0.006000 0.13384 0.065000 0.16274 1.636000 0.37144 1.084000 0.41184 0.436000 0.28706 ACA NOVEL FAM104B-003 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000056853.2 46 21.69807 KEEP 0 18 552 266 9516 GG 1 1 0 - 67 60 2372 0 0 166.341845 812 60 30588 1425 ENST00000477847.2 0.076223 1 FAM104B 90736 __UNKNOWN__ __UNKNOWN__ X 55185632 55185632 __UNKNOWN__ Missense_Mutation SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:55185632C>A ENST00000477847.2 - 2 174 c.41G>T c.(40-42)gGc>gTc p.G14V FAM104B_ENST00000489298.1_Missense_Mutation_p.G16V|FAM104B_ENST00000332132.4_Missense_Mutation_p.G17V|FAM104B_ENST00000425133.2_Missense_Mutation_p.G17V|FAM104B_ENST00000472571.2_Missense_Mutation_p.G17V|FAM104B_ENST00000478918.1_5'UTR|FAM104B_ENST00000358460.4_Missense_Mutation_p.G17V NM_001166702.1 NP_001160174.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 17 NA endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 ATGATGGTTGCCCTCTTTACT 0.373 NA NA NA NA NA NA NA NA NA NA NA 0 151 118 129 NA NA X NA 55185632 2203 4300 6503 SO:0001583 missense BC000919 CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1 Xp11.22 2008-02-05 2006-05-16 2006-05-16 ENSG00000182518 ENSG00000182518 90736 25085 protein-coding gene gene with protein product chromosome X open reading frame 44 CXorf44 NA 12477932 Standard NM_138362 NM_138362 NA Approved FLJ20434 uc004dug.2 Q5XKR9 OTTHUMG00000021646 ENST00000477847.2:c.41G>T chrX.hg19:g.55185632C>A ENSP00000421161:p.Gly14Val NA A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1 hg19 CCDS55423.1 0.02 30.221378 TTGxCCT COVERED . . . . . . . . . . c 1.306 -0.603498 0.03717 . . ENSG00000182518 ENST00000358460;ENST00000332132;ENST00000425133;ENST00000472571;ENST00000477847;ENST00000489298 T;T;T;T;T;T 0.42131 0.98;0.98;0.98;0.98;0.98;0.98 2.46 -1.33 0.09172 . 0.268685 0.25461 U 0.030520 T 0.20495 0.0493 N 0.08118 0 0.09310 N 1 B;B;B 0.32781 0.384;0.384;0.384 B;B;B 0.36719 0.231;0.231;0.231 T 0.16748 -1.0392 10 0.72032 D 0.01 -2.694 6.0629 0.19848 0.0:0.2626:0.0:0.7374 . 17;17;17 Q5XKR9-3;Q5XKR9;Q5XKR9-2 .;F104B_HUMAN;. V 17;17;17;17;14;16 ENSP00000364101:G17V;ENSP00000333394:G17V;ENSP00000397188:G17V;ENSP00000420895:G17V;ENSP00000421161:G14V;ENSP00000423164:G16V ENSP00000333394:G17V G - 2 0 FAM104B 55202357 0.036000 0.19791 0.001000 0.08648 0.008000 0.06430 0.145000 0.16157 -0.435000 0.07264 -1.159000 0.01794 GGC NOVEL FAM104B-003 PUTATIVE basic|appris_candidate|exp_conf|CCDS protein_coding NA protein_coding OTTHUMT00000056853.2 635 22.911873 KEEP 0 4 116 117 4123 CC 1 1 0 - 33 60 1147 0 0 79.100264 421 60 15111 993 ENST00000477847.2 0.072687 1 PAGE5 90737 __UNKNOWN__ __UNKNOWN__ X 55248320 55248320 __UNKNOWN__ Intron SNP G G A rs5914274 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:55248320G>A ENST00000289619.5 + 3 495 PAGE5_ENST00000374952.1_Intron|PAGE5_ENST00000374955.3_Intron NM_130467.3 NP_569734.2 Q96GU1 PAGE5_HUMAN P antigen family, member 5 (prostate associated) NA NA breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 TGAAGGGAGAGTGGAGAATAA 0.413 NA G||| 1259 0.33351 0.1339 0.3545 3775 , , NA 13434 0.3115 NA 0.2416 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 G , 664,3169 49,453,113,1130,456 79 55 63 , 1.1 0 X dbSNP_114 63 2119,4605 242,1032,603,1154,1265 no intron,intron PAGE5 NM_001013435.1,NM_130467.3 , 291,1485,716,2284,1721 AA,AG,A,GG,G 31.514,17.3232,26.3617 , , 55248320 2783,7774 2201 4296 6497 SO:0001627 intron_variant AJ344352 CCDS14368.1, CCDS35306.1 Xp11.22 2009-08-18 ENSG00000158639 ENSG00000158639 90737 29992 protein-coding gene gene with protein product cancer/testis antigen family 16, member 1, cancer/testis antigen family 16, member 2 NA 11920606, 11992404 Standard NM_130467 XM_006724613 NA Approved PAGE-5, CT16.1, CT16.2 uc004duk.3 Q96GU1 OTTHUMG00000021650 ENST00000289619.5:c.250+12G>A chrX.hg19:g.55248320G>A NA Q2NL97|Q5JUL0|Q8WWL9 hg19 CCDS14368.1 0.02 18.63628 AGAxTGG COVERED NOVEL PAGE5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000056861.1 3 5.451781 KEEP 0 1 28 28 990 GG 0.999997 0.999997 0 + 13 60 463 0 0 26.65593 461 60 17135 595 ENST00000289619.5 0.027426 1 PAGE3 139793 __UNKNOWN__ __UNKNOWN__ X 55287031 55287031 __UNKNOWN__ Silent SNP T T G rs3761560 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:55287031T>G ENST00000374951.1 - 4 563 c.255A>C c.(253-255)ggA>ggC p.G85G PAGE3_ENST00000519203.1_Silent_p.G85G Q5JUK9 PAGE3_HUMAN P antigen family, member 3 (prostate associated) 85 NA endometrium(1)|kidney(1)|lung(1) 3 TAGGACCATCTCCACGTTCAC 0.398 NA T||| 1299 0.344106 0.1589 0.3573 3775 , , NA 9272 0.3105 NA 0.2465 False NA ,,, NA NA NA 2504 0.2863 NA NA NA NA 0 T 779,3056 62,524,131,1046,440 59 52 54 -0.3 0 X dbSNP_107 54 2155,4571 250,1048,607,1129,1265 no intergenic 312,1572,738,2175,1705 GG,GT,G,TT,T 32.0398,20.3129,27.7815 55287031 2934,7627 2203 4299 6502 SO:0001819 synonymous_variant Xp11 2009-06-17 2005-01-26 2005-01-27 ENSG00000204279 ENSG00000204279 139793 4110 protein-coding gene gene with protein product 300739 G antigen, family D, 1 GAGED1 NA 9724777 Standard XM_060054 NR_033460 NA Approved PAGE-3, CT16.6 uc022bxs.2 Q5JUK9 OTTHUMG00000021654 ENST00000374951.1:c.255A>C chrX.hg19:g.55287031T>G NA A5D6Y1 hg19 0.02 19.423736 ATCxCCA COVERED NOVEL PAGE3-001 KNOWN basic|appris_principal protein_coding NA protein_coding OTTHUMT00000056867.2 2 4.21886 KEEP 0 3 112 53 1660 TT 1 1 0 - 20 60 739 0 0 48.102411 422 60 15564 681 ENST00000374951.1 0.045249 1 RP11-622K12.1 0 __UNKNOWN__ __UNKNOWN__ X 56760004 56760004 __UNKNOWN__ RNA SNP C C T rs5913992 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:56760004C>T ENST00000374922.4 + 0 468 NR_015367.2 NA NA NA GGGGAGGGAGCTGGTGGGGTG 0.448 NA .||| 2641 0.699603 0.5424 0.5548 3775 , , NA 12515 0.4901 NA 0.5487 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000374922.4: chrX.hg19:g.56760004C>T NA hg19 0.02 3.78052 GAGxTGG COVERED NOVEL RP11-622K12.1-001 KNOWN basic antisense NA processed_transcript OTTHUMT00000056902.1 1 4.450168 KEEP 0 1 32 26 976 CC 0.999988 0.999987 0 + 8 60 273 1 0 18.241729 116 60 4355 188 ENST00000374922.4 0.064516 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 57095915 57095915 __UNKNOWN__ IGR SNP C C T rs204165 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:57095915C>T NA NA SPIN3 (73946 upstream) : SPIN2B (49068 downstream) NA NA NA TCCCTTTACACTGGGTGATGG 0.438 NA C||| 1821 0.482384 0.0484 0.402 3775 , , NA 15185 0.4643 NA 0.5497 False NA ,,, NA NA NA 2504 0.4673 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.57095915C>T NA hg19 0.02 2.033079 ACAxTGG COVERED NOVEL 0 3 4.213998 KEEP 0 0 0 14 519 CC 0.995343 0.995022 0 6 60 219 0 0 15.314489 80 60 3056 124 0.069767 0.999678 FAAH2 158584 __UNKNOWN__ __UNKNOWN__ X 57358099 57358099 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:57358099G>A ENST00000374900.4 + 4 601 c.481G>A c.(481-483)Gca>Aca p.A161T NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 161 NA integral component of membrane (GO:0016021) carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787) endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CACTGTGGTGGCATTACTGAA 0.433 NA HNSCC(52;0.14) NA NA NA NA NA NA NA NA NA NA 0 144 108 120 NA NA X NA 57358099 2203 4300 6503 SO:0001583 missense AK055766 CCDS14375.1 Xp11.1 2008-02-05 2006-11-24 2006-11-24 ENSG00000165591 ENSG00000165591 158584 26440 protein-coding gene gene with protein product 300654 amidase domain containing AMDD NA 17015445 Standard NM_174912 NM_174912 NA Approved RP11-479E16.1, FLJ31204, FAAH-2 uc004dvc.3 Q6GMR7 OTTHUMG00000021684 ENST00000374900.4:c.481G>A chrX.hg19:g.57358099G>A ENSP00000364035:p.Ala161Thr NA Q86VT2|Q96N98 hg19 CCDS14375.1 0.02 4.329943 GTGxCAT COVERED . . . . . . . . . . G 4.379 0.069954 0.08436 . . ENSG00000165591 ENST00000374900 T 0.64438 -0.1 2.38 2.38 0.29361 Amidase signature domain (2); 0.160550 0.39341 U 0.001387 T 0.46405 0.1391 L 0.39020 1.185 0.35936 D 0.832848 B 0.19445 0.036 B 0.28553 0.091 T 0.38757 -0.9646 10 0.16896 T 0.51 . 6.3039 0.21127 0.0:0.0:0.7055:0.2945 . 161 Q6GMR7 FAAH2_HUMAN T 161 ENSP00000364035:A161T ENSP00000364035:A161T A + 1 0 FAAH2 57374824 1.000000 0.71417 0.168000 0.22838 0.209000 0.24338 2.137000 0.42130 0.910000 0.36722 0.506000 0.49869 GCA NOVEL FAAH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056919.1 1 9.932492 KEEP 0 0 0 33 1182 GG 0.999998 0.999998 0 + 6 60 225 0 0 14.572681 136 60 5079 229 ENST00000374900.4 0.042254 1 FAAH2 158584 __UNKNOWN__ __UNKNOWN__ X 57475132 57475132 __UNKNOWN__ Silent SNP T T C rs1367830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:57475132T>C ENST00000374900.4 + 10 1524 c.1404T>C c.(1402-1404)ccT>ccC p.P468P FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 468 NA integral component of membrane (GO:0016021) carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787) endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 TAACACGGCCTTTCAACTTTG 0.398 NA HNSCC(52;0.14) T||| 1777 0.470728 0.0295 0.402 3775 , , NA 9355 0.4663 NA 0.5457 False NA ,,, NA NA NA 2504 0.4499 NA NA NA NA 0 T 451,3384 30,328,63,1274,508 202 146 165 1404 1.3 1 X dbSNP_88 165 4917,1811 1311,944,1351,173,521 no coding-synonymous FAAH2 NM_174912.3 1341,1272,1414,1447,1029 CC,CT,C,TT,T 26.9174,11.7601,49.1811 468/533 57475132 5368,5195 2203 4300 6503 SO:0001819 synonymous_variant AK055766 CCDS14375.1 Xp11.1 2008-02-05 2006-11-24 2006-11-24 ENSG00000165591 ENSG00000165591 158584 26440 protein-coding gene gene with protein product 300654 amidase domain containing AMDD NA 17015445 Standard NM_174912 NM_174912 NA Approved RP11-479E16.1, FLJ31204, FAAH-2 uc004dvc.3 Q6GMR7 OTTHUMG00000021684 ENST00000374900.4:c.1404T>C chrX.hg19:g.57475132T>C NA Q86VT2|Q96N98 hg19 CCDS14375.1 0.02 18.126756 GCCxTTC COVERED NOVEL FAAH2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000056919.1 3 10.533527 KEEP 0 0 0 35 1179 TT 0.999999 0.999999 0 + 20 60 748 0 0 49.45819 399 60 14462 551 ENST00000374900.4 0.047733 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61691813 61691813 __UNKNOWN__ IGR SNP A A T rs4249910 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:61691813A>T NA NA None (None upstream) : SPIN4 (875293 downstream) NA NA NA atcctcagagaggtccaaatg 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61691813A>T NA hg19 0.02 -0.350925 GAGxGGT UNCOVERED NOVEL 0 1 2.399507 KEEP 29 0 0 8 223 AA 0 0 0 3 25 104 0 0 7.643777 26 42 958 82 0.103448 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 61712718 61712718 __UNKNOWN__ IGR SNP A A C rs80269168 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:61712718A>C NA NA None (None upstream) : SPIN4 (854388 downstream) NA NA NA cacaggcctcaaagccctcca 0.398 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.61712718A>C NA hg19 0.02 -0.3246 CTCxAAG COVERED NOVEL 0 10 6.319351 KEEP 25 0 0 21 672 AA 0.99257 0.829507 0 4 41 149 0 0 11.515983 29 47 1026 89 0.121212 0.835716 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 65175748 65175748 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:65175748G>A NA NA MSN (213957 upstream) : RP6-159A1.3 (43844 downstream) NA NA NA GCTTGTTTGTGTAGGTAGAAT 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.65175748G>A NA hg19 0.02 13.650313 TGTxTAG COVERED NOVEL 0 0 5.417129 KEEP 9 0 0 18 624 GG 0.999859 0.999859 0 15 31 500 0 0 29.678305 369 60 13979 432 0.039062 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 65176003 65176003 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:65176003G>A NA NA MSN (214212 upstream) : RP6-159A1.3 (43589 downstream) NA NA NA ATGGAGGGGAGCTTAACAGGG 0.289 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.65176003G>A NA hg19 0.02 7.77366 GGAxCTT COVERED NOVEL 0 1 6.320285 KEEP 6 0 0 21 737 GG 0.999869 0.999869 0 10 37 336 0 0 21.074234 193 60 7164 257 0.049261 1 AR 367 __UNKNOWN__ __UNKNOWN__ X 66915615 66915615 __UNKNOWN__ Intron SNP G G A rs12835243 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:66915615G>A ENST00000374690.3 + 3 2409 AR_ENST00000504326.1_3'UTR|AR_ENST00000396043.2_Intron|AR_ENST00000396044.3_Intron NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor NA NA androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234) androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624) acacacacacGctctctctct 0.522 NA Androgen Insensitivity Syndrome NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant Familial Cancer Database CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome M20132 CCDS14387.1, CCDS43965.1 Xq12 2013-01-16 2008-08-07 ENSG00000169083 ENSG00000169083 367 Nuclear hormone receptors 644 protein-coding gene gene with protein product testicular feminization, Kennedy disease 313700 dihydrotestosterone receptor, spinal and bulbar muscular atrophy DHTR, SBMA NA 3353726, 3377788 Standard NM_000044 NM_000044 NA Approved AIS, NR3C4, SMAX1, HUMARA uc004dwu.2 P10275 OTTHUMG00000021740 ENST00000374690.3:c.1885+9647G>A chrX.hg19:g.66915615G>A NA A2RUN2|B1AKD7|Q9UD95 hg19 CCDS14387.1 0.02 -0.322987 CACxCTC COVERED NOVEL AR-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057007.1 1 3.289559 KEEP 0 1 10 15 376 GG 0.997832 0.850137 0 + 3 60 109 2 0 7.855038 33 60 959 55 ENST00000374690.3 0.083333 0.851984 EDA 1896 __UNKNOWN__ __UNKNOWN__ X 69155432 69155432 __UNKNOWN__ Intron SNP C C T rs6624448 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:69155432C>T ENST00000374552.4 + 2 638 EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron|EDA_ENST00000502251.1_Intron NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A NA NA cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153) apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886) receptor binding (GO:0005102) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 AGTTACAGCACTGTAATATCA 0.299 NA C||| 908 0.24053 0.0416 0.2118 3775 , , NA 13581 0.5288 NA 0.0249 False NA ,,, NA NA NA 2504 0.1513 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U59227 CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1 Xq12-q13.1 2013-05-22 2004-08-09 2004-08-12 ENSG00000158813 ENSG00000158813 1896 Tumor necrosis factor (ligand) superfamily 3157 protein-coding gene gene with protein product 300451 ectodermal dysplasia 1, anhidrotic, oligodontia 1 ED1, EDA2, ODT1 NA 8696334, 18657636, 16583127 Standard NM_001399 NM_001005612 NA Approved EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2 uc004dxs.3 Q92838 OTTHUMG00000021764 ENST00000374552.4:c.397-21445C>T chrX.hg19:g.69155432C>T NA A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4 hg19 CCDS14394.1 0.02 4.648561 GCAxTGT COVERED NOVEL EDA-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057048.2 1 4.815648 KEEP 0 0 0 16 566 CC 0.997832 0.99783 0 + 6 60 227 0 0 15.31032 110 60 4165 150 ENST00000374552.4 0.051724 0.999998 SLC7A3 84889 __UNKNOWN__ __UNKNOWN__ X 70146398 70146398 __UNKNOWN__ Silent SNP A A G rs4360450 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:70146398A>G ENST00000374299.3 - 10 1743 c.1599T>C c.(1597-1599)agT>agC p.S533S SLC7A3_ENST00000298085.4_Silent_p.S533S Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 533 NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) GGGGAGTGGAACTCTGTGGCT 0.468 NA G||| 3066 0.812185 0.5658 0.6081 3775 , , NA 14725 0.754 NA 0.4791 False NA ,,, NA NA NA 2504 0.6687 NA NA NA NA 0 G , 2907,924 934,598,441,99,128 47 39 42 1599,1599 1.1 0.1 X dbSNP_111 42 4337,2385 992,1138,1215,297,653 no coding-synonymous,coding-synonymous SLC7A3 NM_001048164.2,NM_032803.5 , 1926,1736,1656,396,781 GG,GA,G,AA,A 35.4805,24.119,31.356 , 533/620,533/620 70146398 7244,3309 2200 4295 6495 SO:0001819 synonymous_variant AF320612 CCDS14404.1 Xq12 2013-05-22 ENSG00000165349 ENSG00000165349 84889 Solute carriers 11061 protein-coding gene gene with protein product 300443 NA 11591158 Standard NM_032803 NM_001048164 NA Approved CAT-3, ATRC3, FLJ14541 uc004dyn.3 Q8WY07 OTTHUMG00000021780 ENST00000374299.3:c.1599T>C chrX.hg19:g.70146398A>G NA D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7 hg19 CCDS14404.1 0.02 5.162282 GGAxCTC COVERED NOVEL SLC7A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057080.1 1 2.707315 KEEP 0 0 0 9 268 AA 0.99254 0.992521 0 - 6 60 233 0 0 16.202593 98 60 3452 128 ENST00000374299.3 0.057692 0.999981 SLC7A3 84889 __UNKNOWN__ __UNKNOWN__ X 70149404 70149404 __UNKNOWN__ Intron SNP C C T rs5936607 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:70149404C>T ENST00000374299.3 - 2 515 SLC7A3_ENST00000298085.4_Intron Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 NA NA amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ATAAAGAATACTTCCACCCAG 0.502 NA C||| 1671 0.442649 0.0265 0.2911 3775 , , NA 11720 0.5675 NA 0.3926 False NA ,,, NA NA NA 2504 0.4775 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF320612 CCDS14404.1 Xq12 2013-05-22 ENSG00000165349 ENSG00000165349 84889 Solute carriers 11061 protein-coding gene gene with protein product 300443 NA 11591158 Standard NM_032803 NM_001048164 NA Approved CAT-3, ATRC3, FLJ14541 uc004dyn.3 Q8WY07 OTTHUMG00000021780 ENST00000374299.3:c.370+73G>A chrX.hg19:g.70149404C>T NA D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7 hg19 CCDS14404.1 0.02 4.020584 ATAxTTC COVERED NOVEL SLC7A3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057080.1 0 4.514292 KEEP 0 0 0 15 523 CC 0.99649 0.996482 0 - 5 60 174 0 0 10.979175 104 60 3781 133 ENST00000374299.3 0.045872 0.999992 CXorf65 158830 __UNKNOWN__ __UNKNOWN__ X 70324158 70324158 __UNKNOWN__ Missense_Mutation SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:70324158G>T ENST00000374251.5 - 5 464 c.416C>A c.(415-417)gCg>gAg p.A139E NM_001025265.2 NP_001020436.1 A6NEN9 CX065_HUMAN chromosome X open reading frame 65 139 NA breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3) 10 CGGGACACTCGCAGGGGGTTC 0.507 NA NA NA NA NA NA NA NA NA NA NA 0 82 64 70 NA NA X NA 70324158 2203 4300 6503 SO:0001583 missense BC144434 CCDS35324.1 Xq13.1 2009-03-06 ENSG00000204165 ENSG00000204165 158830 33713 protein-coding gene gene with protein product NA Standard NM_001025265 NM_001025265 NA Approved uc011mpo.2 A6NEN9 OTTHUMG00000021785 ENST00000374251.5:c.416C>A chrX.hg19:g.70324158G>T ENSP00000363369:p.Ala139Glu NA hg19 CCDS35324.1 0.02 8.568978 CTCxCAG COVERED . . . . . . . . . . G 14.62 2.590624 0.46214 . . ENSG00000204165 ENST00000374251;ENST00000438526 T;T 0.51325 0.71;0.85 3.91 1.5 0.22942 . 0.502040 0.19494 N 0.112919 T 0.33498 0.0865 L 0.38175 1.15 0.09310 N 1 P 0.52316 0.952 B 0.42692 0.395 T 0.18808 -1.0325 10 0.52906 T 0.07 -6.0259 4.9291 0.13909 0.7152:0.0:0.2848:0.0 . 139 A6NEN9 CX065_HUMAN E 139 ENSP00000363369:A139E;ENSP00000411354:A139E ENSP00000363369:A139E A - 2 0 CXorf65 70240883 0.000000 0.05858 0.001000 0.08648 0.000000 0.00434 -0.025000 0.12413 0.091000 0.17302 -0.340000 0.08031 GCG NOVEL CXorf65-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057089.2 1 13.24303 KEEP 0 0 0 44 1552 GG 1 1 0 - 7 60 260 0 0 15.790907 219 70 8455 323 ENST00000374251.5 0.030973 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 75556121 75556121 __UNKNOWN__ IGR SNP C C G rs5938491 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:75556121C>G NA NA RNU6-867P (90648 upstream) : MAGEE1 (91924 downstream) NA NA NA AGAGATTTTCCCAGAATGCTG 0.418 NA C||| 407 0.107815 0.1248 0.0403 3775 , , NA 14562 0.0278 NA 0.1292 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.75556121C>G NA hg19 0.02 6.298972 TTCxCAG COVERED NOVEL 0 2 7.524137 KEEP 0 0 0 25 854 CC 0.999931 0.999931 0 13 60 448 0 0 31.177385 154 60 5610 239 0.077844 1 TBX22 50945 __UNKNOWN__ __UNKNOWN__ X 79283388 79283388 __UNKNOWN__ Intron SNP T T C rs7877748 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:79283388T>C ENST00000373294.5 + 7 891 TBX22_ENST00000373296.3_Intron|TBX22_ENST00000373291.1_Intron|TBX22_ENST00000442340.1_Intron NM_016954.2 NP_058650.1 Q9Y458 TBX22_HUMAN T-box 22 NA NA multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AAAAGAGAAATATTTAAAATA 0.299 NA T||| 1571 0.416159 0.2632 0.2176 3775 , , NA 12716 0.4861 NA 0.1918 False NA ,,, NA NA NA 2504 0.3978 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AL031000 CCDS14445.1, CCDS43975.1 Xq21.1 2011-02-11 ENSG00000122145 ENSG00000122145 50945 T-boxes 11600 protein-coding gene gene with protein product 300307 cleft palate and/or ankyloglossia CPX, CLPA NA 11559848, 14729838 Standard NM_016954 NM_001109878 NA Approved uc004edj.1 Q9Y458 OTTHUMG00000021901 ENST00000373294.5:c.864-102T>C chrX.hg19:g.79283388T>C NA Q5JZ06|Q96LC0|Q9HBF1 hg19 CCDS14445.1 0.02 4.314011 AAAxATT COVERED NOVEL TBX22-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057334.1 1 2.706617 KEEP 0 0 0 9 252 TT 0.99254 0.992539 0 + 6 60 226 0 0 15.097623 115 60 4235 134 ENST00000373294.5 0.049587 0.999999 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 82895690 82895690 __UNKNOWN__ IGR SNP G G A rs2506823 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:82895690G>A NA NA RP3-326L13.3 (128555 upstream) : CYLC1 (220463 downstream) NA NA NA agagtgctgggattacaggcg 0.522 NA G||| 1067 0.282649 0.0938 0.1441 3775 , , NA 11654 0.3472 NA 0.2386 False NA ,,, NA NA NA 2504 0.2587 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.82895690G>A NA hg19 0.02 -0.05264 TGGxATT UNCOVERED NOVEL 0 1 2.708731 KEEP 2 0 0 9 323 GG 0 0 0 4 60 151 0 0 15.349735 2 60 76 23 0.666667 0.036766 CHM 1121 __UNKNOWN__ __UNKNOWN__ X 85118670 85118670 __UNKNOWN__ 3'UTR SNP G G A rs146762150 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:85118670G>A ENST00000357749.2 - 0 2956 CHM_ENST00000467744.2_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) NA NA blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601) cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968) GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TATTTCCTGCGTGAGACTTTT 0.313 NA G||| 128 0.0339073 0.0008 0.0 3775 , , NA 12813 0.123 NA 0.001 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant X78121 CCDS14454.1, CCDS48139.1 Xq21.1-q21.3 2014-09-17 ENSG00000188419 ENSG00000188419 1121 1940 protein-coding gene gene with protein product 300390 TCD, DXS540 NA 1373238 Standard NM_000390 XM_006724615 NA Approved REP-1 uc004eet.3 P24386 OTTHUMG00000021937 ENST00000357749.2:c.*965C>T chrX.hg19:g.85118670G>A NA A1L4D2|O43732 hg19 CCDS14454.1 0.02 17.439924 TGCxTGA COVERED NOVEL CHM-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057396.3 5 17.155367 KEEP 0 0 0 57 1969 GG 1 1 0 - 15 60 568 0 0 35.722705 414 60 14563 616 ENST00000357749.2 0.034965 1 DACH2 117154 __UNKNOWN__ __UNKNOWN__ X 86083173 86083173 __UNKNOWN__ Intron SNP C C A rs45600632 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:86083173C>A ENST00000373125.4 + 12 1750 DACH2_ENST00000510272.1_Intron|DACH2_ENST00000373131.1_Intron|DACH2_ENST00000508860.1_Intron NM_053281.3 NP_444511.1 Q96NX9 DACH2_HUMAN dachshund family transcription factor 2 NA NA development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 AAAATGCAGGCACACCTACTT 0.353 NA C||| 565 0.149669 0.0446 0.0634 3775 , , NA 13245 0.0456 NA 0.1223 False NA ,,, NA NA NA 2504 0.2996 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF428101 CCDS14455.1, CCDS48140.1, CCDS55457.1 Xq21.3 2014-02-03 2014-02-03 ENSG00000126733 ENSG00000126733 117154 16814 protein-coding gene gene with protein product 300608 dachshund homolog 2 (Drosophila) NA Standard NM_053281 NM_053281 NA Approved uc004eew.2 Q96NX9 OTTHUMG00000021944 ENST00000373125.4:c.1751-3936C>A chrX.hg19:g.86083173C>A NA B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55 hg19 CCDS14455.1 0.02 6.097338 AGGxACA COVERED NOVEL DACH2-007 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000359266.1 2 6.621556 KEEP 0 0 0 22 788 CC 0.999879 0.999879 0 + 8 60 294 0 0 18.817166 182 60 6796 239 ENST00000373125.4 0.042105 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 86958616 86958616 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:86958616T>C NA NA KLHL4 (33566 upstream) : ACA64 (445176 downstream) NA NA NA CTTCAGGATCTCTGTAGAAGT 0.522 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.86958616T>C NA hg19 0.02 -0.386015 ATCxCTG COVERED NOVEL 0 1 2.708389 KEEP 3 0 0 9 287 TT 0.99257 0.911349 0 5 35 166 0 0 12.222631 39 60 1435 67 0.113636 0.918171 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 88164347 88164347 __UNKNOWN__ IGR SNP A A G rs140067301 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:88164347A>G NA NA CPXCR1 (154561 upstream) : RP13-348B13.2 (514389 downstream) NA NA NA GTTCTACAGAAAATAGAAGAA 0.328 NA G||| 96 0.0254305 0.003 0.0014 3775 , , NA 12752 0.0288 NA 0.0 False NA ,,, NA NA NA 2504 0.0634 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.88164347A>G NA hg19 0.02 4.930722 AGAxAAT COVERED NOVEL 0 0 3.288892 KEEP 0 0 0 11 314 AA 0.993072 0.993071 0 8 60 308 0 0 21.884805 111 60 3941 148 0.067227 0.999998 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 95227222 95227222 __UNKNOWN__ IGR SNP A A G rs5990464 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:95227222A>G NA NA RNA5SP510 (390061 upstream) : RN7SL379P (51136 downstream) NA NA NA GGAGGAGTTCATGGAAAAGCA 0.463 NA G||| 2116 0.56053 0.6505 0.4164 3775 , , NA 12707 0.4345 NA 0.2366 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.95227222A>G NA hg19 0.02 29.109085 TTCxTGG COVERED NOVEL 0 3 22.265779 KEEP 0 0 0 74 2299 AA 1 1 0 45 60 1619 0 0 110.920357 653 60 24186 945 0.06447 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 95227995 95227995 __UNKNOWN__ IGR SNP T T C rs2805996 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:95227995T>C NA NA RNA5SP510 (390834 upstream) : RN7SL379P (50363 downstream) NA NA NA GAAGACACAATACAACCTCAT 0.507 NA C||| 2186 0.579073 0.6989 0.4179 3775 , , NA 10587 0.4395 NA 0.2366 False NA ,,, NA NA NA 2504 0.2975 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.95227995T>C NA hg19 0.02 17.30165 CAAxACA COVERED NOVEL 0 1 18.347509 KEEP 3 0 0 61 1790 TT 1 1 0 13 40 479 0 0 28.914751 409 60 14820 548 0.030806 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 95228276 95228276 __UNKNOWN__ IGR SNP A A G rs2805995 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:95228276A>G NA NA RNA5SP510 (391115 upstream) : RN7SL379P (50082 downstream) NA NA NA CAGATCCCTAAGGTACGGATT 0.532 NA G||| 2196 0.581722 0.7088 0.4179 3775 , , NA 13826 0.4395 NA 0.2356 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.95228276A>G NA hg19 0.02 14.77729 CTAxGGT COVERED NOVEL 0 3 8.963138 KEEP 0 1 38 43 1385 AA 1 1 0 17 60 646 0 0 43.498127 319 60 11803 474 0.050595 1 PCDH19 57526 __UNKNOWN__ __UNKNOWN__ X 99547177 99547177 __UNKNOWN__ 3'UTR SNP C C T rs186170980 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:99547177C>T ENST00000373034.4 - 0 9220 PCDH19_ENST00000255531.7_3'UTR|PCDH19_ENST00000464981.1_Intron|PCDH19_ENST00000420881.2_3'UTR NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 NA NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CTCAGCTGAACGCCAGCCAGT 0.438 NA C||| 1 0.000264901 0.0 0.0 3775 , , NA 15593 0.001 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB037734 CCDS43976.1, CCDS48141.1, CCDS55462.1 Xq22.1 2014-06-28 ENSG00000165194 ENSG00000165194 57526 Cadherins / Protocadherins : Non-clustered 14270 protein-coding gene gene with protein product 300460 epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) EFMR NA 11549318, 18469813, 19752159 Standard NM_020766 NM_020766 NA Approved KIAA1313, EIEE9 uc010nmz.3 Q8TAB3 OTTHUMG00000022000 ENST00000373034.4:c.*4098G>A chrX.hg19:g.99547177C>T NA B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3 hg19 CCDS55462.1 0.02 4.736402 GAAxGCC COVERED NOVEL PCDH19-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057479.2 0 4.514348 KEEP 0 0 0 15 508 CC 0.99649 0.99648 0 - 7 60 265 0 0 18.61443 100 60 3478 154 ENST00000373034.4 0.065421 0.999989 PCDH19 57526 __UNKNOWN__ __UNKNOWN__ X 99663194 99663194 __UNKNOWN__ Silent SNP G G T rs41300169 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:99663194G>T ENST00000373034.4 - 1 2077 c.402C>A c.(400-402)atC>atA p.I134I PCDH19_ENST00000420881.2_Silent_p.I134I|PCDH19_ENST00000255531.7_Silent_p.I134I NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 134 Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}. NA homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TCTCCAGCTCGATCTGTGCTG 0.582 NA G||| 606 0.16053 0.0272 0.1844 3775 , , NA 13549 0.2044 NA 0.0368 False NA ,,, NA NA NA 2504 0.2035 NA NA NA NA 0 G ,, 126,3562 2,104,18,1453,552 112 107 109 402,402,402 -11.4 0 X dbSNP_127 109 360,6268 4,235,117,2160,1713 no coding-synonymous,coding-synonymous,coding-synonymous PCDH19 NM_001105243.1,NM_001184880.1,NM_020766.2 ,, 6,339,135,3613,2265 TT,TG,T,GG,G 5.4315,3.4165,4.7111 ,, 134/1102,134/1149,134/1101 99663194 486,9830 2129 4229 6358 SO:0001819 synonymous_variant AB037734 CCDS43976.1, CCDS48141.1, CCDS55462.1 Xq22.1 2014-06-28 ENSG00000165194 ENSG00000165194 57526 Cadherins / Protocadherins : Non-clustered 14270 protein-coding gene gene with protein product 300460 epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome) EFMR NA 11549318, 18469813, 19752159 Standard NM_020766 NM_020766 NA Approved KIAA1313, EIEE9 uc010nmz.3 Q8TAB3 OTTHUMG00000022000 ENST00000373034.4:c.402C>A chrX.hg19:g.99663194G>T NA B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3 hg19 CCDS55462.1 0.02 16.547803 CTCxATC COVERED NOVEL PCDH19-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057479.2 1 21.065989 KEEP 0 0 0 70 2348 GG 1 1 0 - 24 60 887 0 0 60.874303 371 60 13141 575 ENST00000373034.4 0.060759 1 SYTL4 94121 __UNKNOWN__ __UNKNOWN__ X 99946267 99946267 __UNKNOWN__ Intron SNP C C T rs17849207 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:99946267C>T ENST00000372989.1 - 8 871 SYTL4_ENST00000372981.1_Intron|SYTL4_ENST00000263033.5_Intron|SYTL4_ENST00000454200.2_Intron|SYTL4_ENST00000455616.1_Intron|SYTL4_ENST00000276141.6_Intron NM_080737.2 NP_542775.2 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 NA NA exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714) centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021) neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 "Insulin(DB00071)|Insulin Regular(DB00030) tctagtcaggcctctttccaa 0.338 NA C||| 348 0.0921854 0.0008 0.0288 3775 , , NA 13824 0.2063 NA 0.003 False NA ,,, NA NA NA 2504 0.1186 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant CCDS14472.1 Xq21.33 2008-07-31 2008-07-31 ENSG00000102362 ENSG00000102362 94121 15588 protein-coding gene gene with protein product granuphilin-a, exophilin-2 300723 NA Standard NM_080737 NM_080737 NA Approved uc010nnc.3 Q96C24 OTTHUMG00000022004 ENST00000372989.1:c.540-61G>A chrX.hg19:g.99946267C>T NA Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1 hg19 CCDS14472.1 0.02 6.240716 AGGxCTC COVERED NOVEL SYTL4-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000057488.1 2 16.25222 KEEP 0 0 0 54 1892 CC 1 1 0 - 7 60 257 0 0 16.305121 167 60 5974 281 ENST00000372989.1 0.04023 1 TAF7L 54457 __UNKNOWN__ __UNKNOWN__ X 100532507 100532507 __UNKNOWN__ Intron SNP A A T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:100532507A>T ENST00000372907.3 - 9 961 TAF7L_ENST00000356784.1_Intron|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa NA NA cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669) NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TTTTTTTTGGATTGGCCTATG 0.393 NA NA NA NA NA NA NA NA NA NA Ovarian(104;431 1530 3210 15406 18594) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF285595 CCDS35347.1, CCDS55466.1 Xq22.1 2009-03-25 2002-08-29 2001-12-07 ENSG00000102387 ENSG00000102387 54457 11548 protein-coding gene gene with protein product cancer/testis antigen 40 300314 TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q TAF2Q NA 11279525 Standard NM_024885 NA Approved CT40 uc004ehb.3 Q5H9L4 OTTHUMG00000022021 ENST00000372907.3:c.949+86T>A chrX.hg19:g.100532507A>T NA Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0 hg19 CCDS35347.1 0.02 1.300046 TGGxTTG COVERED NOVEL TAF7L-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057526.2 5 5.605571 KEEP 0 0 0 19 466 AA 0.99986 0.999844 0 - 9 60 167 2 0 8.098879 92 60 2095 219 ENST00000372907.3 0.089109 0.999984 TAF7L 54457 __UNKNOWN__ __UNKNOWN__ X 100532621 100532621 __UNKNOWN__ Missense_Mutation SNP T T C rs35899692 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:100532621T>C ENST00000372907.3 - 9 933 c.922A>G c.(922-924)Agc>Ggc p.S308G TAF7L_ENST00000356784.1_Missense_Mutation_p.S222G|TAF7L_ENST00000324762.6_Missense_Mutation_p.S222G|TAF7L_ENST00000372905.2_Missense_Mutation_p.S222G NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 308 NA S -> G (in dbSNP:rs35899692). {ECO:0000269|PubMed:16597641, ECO:0000269|PubMed:17714218}. cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367) cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669) NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 TGCTTGTGGCTGCTCATTCCC 0.458 NA t||| 681 0.180397 0.1906 0.1066 3775 , , NA 12247 0.2014 NA 0.1203 False NA ,,, NA NA NA 2504 0.0317 NA NA NA Ovarian(104;431 1530 3210 15406 18594) NA 0 GLY/SER,GLY/SER 940,2895 118,583,121,931,450 187 181 183 664,922 3.3 0 X dbSNP_126 183 912,5816 32,572,276,1824,1596 yes missense,missense TAF7L NM_001168474.1,NM_024885.3 56,56 150,1155,397,2755,2046 CC,CT,C,TT,T 13.5553,24.5111,17.5329 benign,benign 222/377,308/463 100532621 1852,8711 2203 4300 6503 SO:0001583 missense AF285595 CCDS35347.1, CCDS55466.1 Xq22.1 2009-03-25 2002-08-29 2001-12-07 ENSG00000102387 ENSG00000102387 54457 11548 protein-coding gene gene with protein product cancer/testis antigen 40 300314 TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q TAF2Q NA 11279525 Standard NM_024885 NA Approved CT40 uc004ehb.3 Q5H9L4 OTTHUMG00000022021 ENST00000372907.3:c.922A>G chrX.hg19:g.100532621T>C ENSP00000361998:p.Ser308Gly NA Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0 hg19 CCDS35347.1 0.02 7.324043 GGCxGCT COVERED 334 0.20132610006027726 62 0.14553990610328638 26 0.07784431137724551 78 0.16049382716049382 53 0.0748587570621469 t 0.796 -0.757255 0.03019 0.245111 0.135553 ENSG00000102387 ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784 T;T;T;T 0.22539 3.68;1.95;1.95;2.94 5.18 3.35 0.38373 . 1.401140 0.04389 N 0.362069 T 0.00012 0.0000 N 0.02721 -0.515 0.80722 P 0.0 B;B 0.06786 0.0;0.001 B;B 0.01281 0.0;0.0 T 0.24261 -1.0165 9 0.02654 T 1 -0.2224 11.1985 0.48728 0.0:0.8329:0.0:0.1671 rs35899692 308;222 Q5H9L4;Q5H9L4-3 TAF7L_HUMAN;. G 308;222;222;222 ENSP00000361998:S308G;ENSP00000361996:S222G;ENSP00000320283:S222G;ENSP00000349235:S222G ENSP00000320283:S222G S - 1 0 TAF7L 100419277 0.025000 0.19082 0.001000 0.08648 0.000000 0.00434 2.394000 0.44450 1.041000 0.40125 -0.291000 0.09656 AGC NOVEL TAF7L-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000057526.2 8 9.328156 KEEP 0 0 0 31 970 TT 0.999997 0.999997 0 - 8 60 264 0 0 15.489388 201 60 7555 282 ENST00000372907.3 0.038278 1 ARMCX1 51309 __UNKNOWN__ __UNKNOWN__ X 100807909 100807909 __UNKNOWN__ 5'UTR SNP A A G rs6616255 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:100807909A>G ENST00000372829.3 + 0 367 NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 NA NA integral component of membrane (GO:0016021) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 TGTCCCAGCTATACCATGGGC 0.627 NA A||| 377 0.0998675 0.0015 0.0303 3775 , , NA 11765 0.1379 NA 0.1153 False NA ,,, NA NA NA 2504 0.1012 NA NA NA NA 0 A 78,3757 1,67,9,1564,562 54 50 51 -4.6 0 X dbSNP_116 51 900,5828 32,605,231,1791,1641 no utr-5 ARMCX1 NM_016608.1 33,672,240,3355,2203 GG,GA,G,AA,A 13.3769,2.0339,9.2587 100807909 978,9585 2203 4300 6503 SO:0001623 5_prime_UTR_variant AB039670 CCDS14487.1 Xq21.33-q22.2 2014-03-21 ENSG00000126947 ENSG00000126947 51309 Armadillo repeat containing 18073 protein-coding gene gene with protein product 300362 NA 11162520, 16221301, 22569362 Standard NM_016608 NM_016608 NA Approved ALEX1, GASP7 uc004ehv.3 Q9P291 OTTHUMG00000022033 ENST00000372829.3:c.-5A>G chrX.hg19:g.100807909A>G NA Q53HK2|Q9H2Q0 hg19 CCDS14487.1 0.02 13.420236 GCTxTAC COVERED NOVEL ARMCX1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057561.1 0 19.858339 KEEP 0 0 0 66 2014 AA 1 1 0 + 10 60 381 1 0 23.554317 310 60 10890 457 ENST00000372829.3 0.03125 1 BEX2 84707 __UNKNOWN__ __UNKNOWN__ X 102564583 102564583 __UNKNOWN__ Silent SNP A A G rs7557 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:102564583A>G ENST00000372677.3 - 3 589 c.322T>C c.(322-324)Ttg>Ctg p.L108L BEX2_ENST00000372674.1_Silent_p.L108L|BEX2_ENST00000536889.1_Silent_p.L140L NM_032621.3 NP_116010.1 Q9BXY8 BEX2_HUMAN brain expressed X-linked 2 108 NA apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726) cytoplasm (GO:0005737)|nucleus (GO:0005634) endometrium(1)|lung(1)|ovary(1) 3 ACTGCCCGCAAACTATGACTC 0.502 NA G||| 3144 0.832848 0.6604 0.6383 3775 , , NA 12454 0.746 NA 0.4791 False NA ,,, NA NA NA 2504 0.6074 NA NA NA NA 0 G ,,, 3222,613 1150,448,474,34,97 230 188 202 418,415,322,322 -0.6 0 X dbSNP_52 202 4146,2582 924,1133,1165,371,707 no coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous BEX2 NM_001168399.1,NM_001168400.1,NM_001168401.1,NM_032621.3 ,,, 2074,1581,1639,405,804 GG,GA,G,AA,A 38.3769,15.9844,30.2471 ,,, 140/161,139/160,108/129,108/129 102564583 7368,3195 2203 4300 6503 SO:0001819 synonymous_variant BC015522 CCDS14505.1, CCDS55467.1 Xq22 2014-03-21 ENSG00000133134 ENSG00000133134 84707 30933 protein-coding gene gene with protein product 300691 NA 16221301 Standard NM_032621 NM_001168399 NA Approved DJ79P11.1 uc004eka.3 Q9BXY8 OTTHUMG00000022095 ENST00000372677.3:c.322T>C chrX.hg19:g.102564583A>G NA B2R574|D3DXA2|F5H7H5|Q5JVV9 hg19 CCDS14505.1 0.02 14.862932 GCAxACT COVERED NOVEL BEX2-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057702.1 0 17.44713 KEEP 0 0 0 58 1727 AA 1 1 0 - 14 60 528 0 0 34.630084 301 60 10744 440 ENST00000372677.3 0.044444 1 GLRA4 441509 __UNKNOWN__ __UNKNOWN__ X 102962246 102962246 __UNKNOWN__ 3'UTR SNP C C T rs200206348 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:102962246C>T ENST00000372617.4 - 0 1700 NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 NA NA cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824) cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 GAAGACAGCCCGGGAGATGGT 0.488 NA C||| 3 0.000794702 0.0 0.0 3775 , , NA 15724 0.003 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 C 0,3256 0,0,1343,570 71 68 69 5.1 1 X 69 1,6457 0,1,2334,1788 no near-gene-3 0,1,3677,2358 TT,TC,CC,C 0.0155,0.0,0.0103 102962246 1,9713 1913 4123 6036 SO:0001624 3_prime_UTR_variant Z93848 CCDS43980.2 Xq22.2 2012-01-16 ENSG00000188828 ENSG00000188828 441509 Ligand-gated ion channels / Glycine receptors 31715 protein-coding gene gene with protein product NA Standard NM_001024452 NM_001024452 NA Approved uc011mse.2 Q5JXX5 OTTHUMG00000022110 ENST00000372617.4:c.*26G>A chrX.hg19:g.102962246C>T NA hg19 CCDS43980.2 0.02 5.030675 GCCxGGG COVERED NOVEL GLRA4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057742.2 0 9.329701 KEEP 0 0 0 31 1044 CC 0.999997 0.999996 0 - 8 60 306 0 0 21.685193 111 60 3893 187 ENST00000372617.4 0.067227 0.999998 RAB9B 51209 __UNKNOWN__ __UNKNOWN__ X 103078223 103078223 __UNKNOWN__ 3'UTR SNP G G A rs529980 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:103078223G>A ENST00000243298.2 - 0 2776 NM_016370.2 NP_057454.1 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family NA NA protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264) phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886) GDP binding (GO:0019003)|GTP binding (GO:0005525) endometrium(1)|kidney(1)|large_intestine(1)|lung(11) 14 CTTAAGAGCTGTGGGGTCCCA 0.418 NA G||| 1213 0.321325 0.2231 0.4107 3775 , , NA 12536 0.3254 NA 0.1362 False NA ,,, NA NA NA 2504 0.1718 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB036693 CCDS14515.1 Xq22.1-q22.3 2010-04-19 ENSG00000123570 ENSG00000123570 51209 RAB, member RAS oncogene 14090 protein-coding gene gene with protein product 300285 NA 11043518 Standard NM_016370 NA Approved RAB9L uc004ell.2 Q9NP90 OTTHUMG00000022112 ENST00000243298.2:c.*1886C>T chrX.hg19:g.103078223G>A NA B2R8M0|Q52LX2 hg19 CCDS14515.1 0.02 6.325386 GCTxTGG COVERED NOVEL RAB9B-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057746.1 0 12.941898 KEEP 0 0 0 43 1525 GG 1 1 0 - 8 60 290 0 0 18.940988 156 60 5848 251 ENST00000243298.2 0.04878 1 ACSL4 2182 __UNKNOWN__ __UNKNOWN__ X 108976118 108976118 __UNKNOWN__ Intron SNP T T G rs200394096 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:108976118T>G ENST00000348502.6 - 1 265 ACSL4_ENST00000504383.1_Intron|ACSL4_ENST00000469796.2_Intron|ACSL4_ENST00000340800.2_Intron NM_004458.2 NP_004449.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 NA NA cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777) arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Rosiglitazone(DB00412) CAGGCTGGGGTTCCGAGGACC 0.627 NA NA NA NA NA NA NA NA NA NA Pancreas(188;358 2127 38547 41466 45492) NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant BC034959 CCDS14548.1, CCDS14549.1 Xq22.3-q23 2008-02-05 2004-02-19 2004-02-20 ENSG00000068366 ENSG00000068366 2182 Acyl-CoA synthetase family 3571 protein-coding gene gene with protein product lignoceroyl-CoA synthase, long-chain fatty-acid-Coenzyme A ligase 4 300157 fatty-acid-Coenzyme A ligase, long-chain 4, mental retardation, X-linked 63, mental retardation, X-linked 68 FACL4, MRX63, MRX68 NA 9480748, 12949969 Standard NM_004458 NM_022977 NA Approved ACS4, LACS4 uc004eoi.2 O60488 OTTHUMG00000022190 ENST00000348502.6:c.61+249A>C chrX.hg19:g.108976118T>G NA D3DUY2|O60848|O60849|Q5JWV8 hg19 CCDS14549.1 0.02 -0.337136 GGGxTCC COVERED NOVEL ACSL4-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057893.3 3 3.00522 KEEP 0 0 0 10 249 TT 0.992708 0.859432 0 - 8 60 119 0 0 7.264017 31 60 892 88 ENST00000348502.6 0.205128 0.865745 AMOT 154796 __UNKNOWN__ __UNKNOWN__ X 112021649 112021649 __UNKNOWN__ 3'UTR SNP G G C rs2286064 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:112021649G>C ENST00000304758.1 - 0 2969 AMOT_ENST00000371959.3_3'UTR NM_133265.2 NP_573572.1 Q4VCS5 AMOT_HUMAN angiomotin NA NA actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570) actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923) angiostatin binding (GO:0043532)|receptor activity (GO:0004872) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TATTACTCAAGTAGTACATTG 0.378 NA G||| 267 0.0707285 0.0068 0.0764 3775 , , NA 13556 0.0754 NA 0.0726 False NA ,,, NA NA NA 2504 0.0573 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AB028994 CCDS14563.1, CCDS48154.1 Xq23 2006-02-08 ENSG00000126016 ENSG00000126016 154796 17810 protein-coding gene gene with protein product 300410 NA 11257124, 16043488, 12406577 Standard NM_133265 NM_001113490 NA Approved KIAA1071 uc004epr.3 Q4VCS5 OTTHUMG00000022216 ENST00000304758.1:c.*146C>G chrX.hg19:g.112021649G>C NA Q504X5|Q9HD27|Q9UPT1 hg19 CCDS14563.1 0.02 19.364874 CAAxTAG COVERED NOVEL AMOT-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000057950.1 1 10.233626 KEEP 0 0 0 34 1248 GG 0.999998 0.999998 0 - 14 60 520 0 0 32.322348 389 60 14924 524 ENST00000304758.1 0.034739 1 HTR2C 3358 __UNKNOWN__ __UNKNOWN__ X 114142704 114142704 __UNKNOWN__ 3'UTR SNP T T G rs1801412 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:114142704T>G ENST00000276198.1 + 0 2831 HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled NA NA behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246) TTAAGGACAGTGTTCAAATTC 0.338 NA T||| 237 0.0627815 0.0008 0.0245 3775 , , NA 15114 0.0972 NA 0.0437 False NA ,,, NA NA NA 2504 0.0787 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14564.1, CCDS59174.1 Xq23 2013-12-19 2012-02-03 ENSG00000147246 ENSG00000147246 3358 5-HT (serotonin) receptors, GPCR / Class A : 5-HT (serotonin) receptors, GPCR only 5295 protein-coding gene gene with protein product 312861 5-hydroxytryptamine (serotonin) receptor 2C HTR1C NA 7895773 Standard NM_000868 NM_000868 NA Approved 5-HT2C, 5HTR2C uc004epu.1 P28335 OTTHUMG00000022226 ENST00000276198.1:c.*726T>G chrX.hg19:g.114142704T>G NA B1AMW4|Q5VUF8|Q9NP28 hg19 CCDS14564.1 0.02 6.486673 CAGxGTT COVERED NOVEL HTR2C-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000057962.1 1 6.61943 KEEP 0 0 0 22 696 TT 0.999879 0.999879 0 + 7 60 256 0 0 16.517864 150 60 5423 206 ENST00000276198.1 0.044586 1 WDR44 54521 __UNKNOWN__ __UNKNOWN__ X 117582768 117582768 __UNKNOWN__ Intron SNP C C G rs34131067 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:117582768C>G ENST00000254029.3 + 20 3042 WDR44_ENST00000371825.3_Intron|WDR44_ENST00000371822.5_Intron NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 NA NA endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 TCCCCTGAAGCTGGAGGGTCA 0.413 NA G||| 781 0.206887 0.1891 0.268 3775 , , NA 14426 0.127 NA 0.0994 False NA ,,, NA NA NA 2504 0.1196 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AK001978 CCDS14572.1, CCDS55482.1, CCDS55483.1 Xq24 2013-01-09 ENSG00000131725 ENSG00000131725 54521 WD repeat domain containing 30512 protein-coding gene gene with protein product NA 12477932 Standard NM_019045 NM_019045 NA Approved DKFZp686L20145, RPH11, RAB11BP uc004eqn.3 Q5JSH3 OTTHUMG00000022254 ENST00000254029.3:c.2648-88C>G chrX.hg19:g.117582768C>G NA B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4 hg19 CCDS14572.1 0.02 1.827983 AAGxTGG COVERED NOVEL WDR44-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058001.1 1 4.815592 KEEP 0 0 0 16 584 CC 0.997832 0.99778 0 + 4 60 143 0 0 8.954194 94 60 3511 131 ENST00000254029.3 0.040816 0.999948 CXorf56 63932 __UNKNOWN__ __UNKNOWN__ X 118679397 118679397 __UNKNOWN__ Intron SNP T T C rs146602854 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:118679397T>C ENST00000320339.4 - 3 409 CXorf56_ENST00000371594.4_Intron|CXorf56_ENST00000536133.1_Intron NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 NA NA cervix(1)|endometrium(2)|lung(7) 10 TTGCCTATGCTTGGAGAAACC 0.348 NA T||| 57 0.0150993 0.0 0.0014 3775 , , NA 14651 0.0526 NA 0.0 False NA ,,, NA NA NA 2504 0.0031 NA NA NA NA 0 T ,, 2,3833 0,2,1630,571 272 249 257 ,, -3.2 0 X dbSNP_134 257 0,6728 0,0,2428,1872 no intron,intron,intron CXorf56 NM_001170569.1,NM_001170570.1,NM_022101.3 ,, 0,2,4058,2443 CC,CT,TT,T 0.0,0.0522,0.0189 ,, ,, 118679397 2,10561 2203 4300 6503 SO:0001627 intron_variant AK026618 CCDS55484.1, CCDS55485.1 Xq24 2008-02-05 ENSG00000018610 ENSG00000018610 63932 26239 protein-coding gene gene with protein product NA 12477932 Standard NM_022101 NM_022101 NA Approved FLJ22965 uc004erk.2 Q9H5V9 OTTHUMG00000022276 ENST00000320339.4:c.137+28A>G chrX.hg19:g.118679397T>C NA A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351 hg19 CCDS55484.1 0.02 4.050141 TGCxTGG COVERED NOVEL CXorf56-003 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000058042.3 4 7.523034 KEEP 0 0 0 25 801 TT 0.999931 0.999929 0 - 6 60 215 0 0 14.088695 111 60 4173 185 ENST00000320339.4 0.051282 0.999998 UBE2A 7319 __UNKNOWN__ __UNKNOWN__ X 118718371 118718371 __UNKNOWN__ 3'UTR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:118718371T>A ENST00000371558.2 + 0 1786 UBE2A_ENST00000371569.5_3'UTR NM_001282161.1|NM_003336.2|NM_181762.1 NP_001269090.1|NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A NA NA antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511) chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842) haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 TAAATAAAAATAACCTTAAAA 0.254 NA Rad6 pathway NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK223045 CCDS14580.1, CCDS14581.1 Xq24 2011-05-19 2011-05-19 ENSG00000077721 ENSG00000077721 7319 Ubiquitin-conjugating enzymes E2 12472 protein-coding gene gene with protein product 312180 ubiquitin-conjugating enzyme E2A (RAD6 homolog) NA 1559696 Standard NM_003336 NM_003336 NA Approved UBC2, HHR6A, RAD6A uc004erl.3 P49459 OTTHUMG00000022275 ENST00000371558.2:c.*1153T>A chrX.hg19:g.118718371T>A NA A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4 hg19 CCDS14580.1 0.02 0.481684 AAAxAAC COVERED NOVEL UBE2A-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058036.1 1 2.842147 KEEP 0 1 18 16 482 TT 0.999366 0.997265 0 + 10 70 145 1 0 7.017892 61 70 2085 111 ENST00000371558.2 0.140845 0.997898 RP4-755D9.1 0 __UNKNOWN__ __UNKNOWN__ X 119222321 119222321 __UNKNOWN__ RNA SNP C C G rs6646564 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:119222321C>G ENST00000553843.1 + 0 297 NA NA NA tttcgtgggtcgggggagatc 0.378 NA g||| 1128 0.298808 0.1967 0.2666 3775 , , NA 14970 0.2798 NA 0.1173 False NA ,,, NA NA NA 2504 0.2894 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA NA NA NA NA ENST00000553843.1: chrX.hg19:g.119222321C>G NA hg19 0.02 -0.271904 GGTxGGG COVERED NOVEL RP4-755D9.1-001 KNOWN basic antisense NA antisense OTTHUMT00000411971.1 0 3.310353 KEEP 0 0 0 11 370 CC 0.993072 0.712346 0 + 4 60 118 0 0 8.537102 27 60 950 58 ENST00000553843.1 0.129032 0.717315 ATP1B4 23439 __UNKNOWN__ __UNKNOWN__ X 119515678 119515678 __UNKNOWN__ 3'UTR SNP G G C rs41312618 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:119515678G>C ENST00000218008.3 + 0 3320 ATP1B4_ENST00000361319.3_3'UTR NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide NA NA monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890) monovalent inorganic cation transmembrane transporter activity (GO:0015077) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 gtggaatggggaataaggaag 0.478 NA g||| 872 0.230993 0.025 0.2305 3775 , , NA 14885 0.121 NA 0.3777 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF158383 CCDS14598.1, CCDS48158.1 Xq24 2012-10-22 2010-04-20 ENSG00000101892 ENSG00000101892 23439 ATPases / P-type 808 protein-coding gene gene with protein product Na,K-ATPase beta m-subunit ATPase, (Na+)/K+ transporting, beta 4 polypeptide NA 10456317, 17592128 Standard NM_001142447 NM_012069 NA Approved uc004esr.3 Q9UN42 OTTHUMG00000022299 ENST00000218008.3:c.*2189G>C chrX.hg19:g.119515678G>C NA Q17RR0|Q9UN41 hg19 CCDS48158.1 0.02 6.487308 GGGxAAT COVERED NOVEL ATP1B4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058095.1 3 2.444557 KEEP 0 1 37 21 740 GG 0.999879 0.999879 0 + 8 60 271 0 0 17.556371 149 60 5620 219 ENST00000218008.3 0.050955 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 122914414 122914414 __UNKNOWN__ IGR SNP G G C rs200548343 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:122914414G>C NA NA RNU7-69P (8425 upstream) : Y_RNA (76497 downstream) NA NA NA ctctgtctctgtctctctctc 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.122914414G>C NA hg19 0.02 -0.225609 TCTxTCT UNCOVERED NOVEL 0 19 2.705886 KEEP 15 0 0 9 269 GG 0 0 0 5 60 136 0 0 10.675444 19 60 579 49 0.208333 0.58293 TENM1 10178 __UNKNOWN__ __UNKNOWN__ X 123510950 123510950 __UNKNOWN__ 3'UTR SNP T T C rs765086 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:123510950T>C ENST00000371130.3 - 0 11677 STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_3'UTR NM_014253.3 NP_055068.2 Q9UKZ4 TEN1_HUMAN teneurin transmembrane protein 1 NA NA immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886) heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803) NA GATATTATAGTGGGGCCTGGT 0.318 NA T||| 794 0.210331 0.1929 0.1657 3775 , , NA 10879 0.252 NA 0.1044 False NA ,,, NA NA NA 2504 0.0665 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF100772 CCDS14609.1, CCDS55488.1 Xq25 2012-10-02 2012-10-02 2012-10-02 ENSG00000009694 ENSG00000009694 10178 8117 protein-coding gene gene with protein product 300588 tenascin M, odz, odd Oz/ten-m homolog 1 (Drosophila) ODZ3, TNM, ODZ1 NA 10331952, 10341219 Standard NM_014253 NM_001163278 NA Approved TEN-M1 uc010nqy.3 Q9UKZ4 OTTHUMG00000022721 ENST00000371130.3:c.*3436A>G chrX.hg19:g.123510950T>C NA B2RTR5|Q5JZ17 hg19 CCDS14609.1 0.02 6.255659 TAGxGGG COVERED NOVEL TENM1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058985.1 0 8.424323 KEEP 0 0 0 28 858 TT 0.999997 0.999997 0 - 9 60 288 0 0 17.793153 163 60 5877 229 ENST00000371130.3 0.052326 1 DCAF12L1 139170 __UNKNOWN__ __UNKNOWN__ X 125686536 125686536 __UNKNOWN__ Missense_Mutation SNP T T C rs11095722 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:125686536T>C ENST00000371126.1 - 1 298 c.56A>G c.(55-57)gAc>gGc p.D19G NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 19 NA D -> G (in dbSNP:rs11095722). {ECO:0000269|PubMed:15489334}. breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCTCTCGGCGTCCGCCTCGAC 0.721 NA C||| 411 0.108874 0.1778 0.0274 3775 , , NA 7860 0.0933 NA 0.0308 False NA ,,, NA NA NA 2504 0.0327 NA NA NA NA 0 C GLY/ASP 433,3179 16,305,96,1216,442 17 21 20 56 -2.7 0 X dbSNP_120 20 173,6266 4,109,56,2245,1667 no missense DCAF12L1 NM_178470.4 94 20,414,152,3461,2109 CC,CT,C,TT,T 2.6868,11.9878,6.0293 benign 19/464 125686536 606,9445 2075 4081 6156 SO:0001583 missense BC035674 CCDS14610.1 Xq25 2013-01-09 2009-07-17 2009-07-17 ENSG00000198889 ENSG00000198889 139170 WD repeat domain containing 29395 protein-coding gene gene with protein product WD repeat domain 40B WDR40B NA 12477932 Standard NM_178470 NM_178470 NA Approved KIAA1892L uc004eul.3 Q5VU92 OTTHUMG00000022353 ENST00000371126.1:c.56A>G chrX.hg19:g.125686536T>C ENSP00000360167:p.Asp19Gly NA Q8IYK3 hg19 CCDS14610.1 0.02 4.247234 GCGxCCG COVERED 184 0.11091018685955395 68 0.16113744075829384 7 0.019553072625698324 32 0.06015037593984962 19 0.02526595744680851 C 3.898 -0.022629 0.07634 0.119878 0.026868 ENSG00000198889 ENST00000371126 T 0.16196 2.36 3.15 -2.73 0.05950 . . . . . T 0.00012 0.0000 N 0.00823 -1.155 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.37079 -0.9721 8 0.15952 T 0.53 . 2.1322 0.03753 0.1362:0.224:0.4212:0.2185 rs11095722;rs17846147;rs17859155 19 Q5VU92 DC121_HUMAN G 19 ENSP00000360167:D19G ENSP00000360167:D19G D - 2 0 DCAF12L1 125514217 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -1.002000 0.03686 -1.350000 0.02199 -1.137000 0.01932 GAC NOVEL DCAF12L1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058186.1 0 15.644401 KEEP 0 0 0 52 1570 TT 1 1 0 - 6 60 221 0 0 14.436116 123 60 4088 229 ENST00000371126.1 0.046512 1 CXorf64 0 __UNKNOWN__ __UNKNOWN__ X 125954900 125954900 __UNKNOWN__ Silent SNP C C T rs41309536 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:125954900C>T ENST00000371125.3 + 2 359 c.279C>T c.(277-279)taC>taT p.Y93Y NM_001122716.1 NP_001116188.1 B1ATL7 PRR32_HUMAN 93 NA NA GACACCCCTACGGGCCACCAC 0.527 NA C||| 461 0.122119 0.025 0.1499 3775 , , NA 13119 0.247 NA 0.0169 False NA ,,, NA NA NA 2504 0.0593 NA NA NA NA 0 62 48 52 NA NA X NA 125954900 692 1591 2283 SO:0001819 synonymous_variant NA NA NA NA ENST00000371125.3:c.279C>T chrX.hg19:g.125954900C>T NA hg19 CCDS48163.1 0.02 6.449693 CTAxGGG COVERED NOVEL CXorf64-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058188.1 2 9.329659 KEEP 0 0 0 31 1051 CC 0.999997 0.999997 0 + 7 60 258 0 0 16.246625 176 60 6048 258 ENST00000371125.3 0.038251 1 OCRL 4952 __UNKNOWN__ __UNKNOWN__ X 128679030 128679030 __UNKNOWN__ Intron SNP C C G rs5977104 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:128679030C>G ENST00000371113.4 + 3 364 OCRL_ENST00000357121.5_Intron|OCRL_ENST00000486673.1_Intron NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe NA NA cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AGCTTTAATTCCTTAGCTAGT 0.318 NA G||| 1539 0.407682 0.4773 0.1628 3775 , , NA 16416 0.5605 NA 0.0169 False NA ,,, NA NA NA 2504 0.2178 NA NA NA NA 0 G , 2205,1630 547,766,345,319,226 130 115 120 , 1.8 0.9 X dbSNP_114 120 102,6626 0,71,31,2357,1841 no intron,intron OCRL NM_000276.3,NM_001587.3 , 547,837,376,2676,2067 GG,GC,G,CC,C 1.5161,42.5033,21.8404 , , 128679030 2307,8256 2203 4300 6503 SO:0001627 intron_variant U57627 CCDS35393.1, CCDS35394.1 Xq25 2014-06-18 ENSG00000122126 ENSG00000122126 4952 8108 protein-coding gene gene with protein product 300535 NA Standard NM_000276 NM_001587 NA Approved OCRL1 uc004euq.3 Q01968 OTTHUMG00000022706 ENST00000371113.4:c.199+16C>G chrX.hg19:g.128679030C>G NA A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 hg19 CCDS35393.1 0.02 2.056839 ATTxCTT COVERED NOVEL OCRL-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058917.1 0 5.116528 KEEP 0 0 0 17 583 CC 0.999366 0.996921 0 + 6 60 224 0 0 16.298444 66 60 2377 97 ENST00000371113.4 0.083333 0.997553 OCRL 4952 __UNKNOWN__ __UNKNOWN__ X 128694467 128694467 __UNKNOWN__ Intron SNP A A C rs3761583 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:128694467A>C ENST00000371113.4 + 9 887 OCRL_ENST00000357121.5_Intron NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe NA NA cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AAAAGAAAGAACTTCTGTTGG 0.318 NA C||| 1538 0.407417 0.4781 0.1556 3775 , , NA 14686 0.5724 NA 0.0169 False NA ,,, NA NA NA 2504 0.2086 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U57627 CCDS35393.1, CCDS35394.1 Xq25 2014-06-18 ENSG00000122126 ENSG00000122126 4952 8108 protein-coding gene gene with protein product 300535 NA Standard NM_000276 NM_001587 NA Approved OCRL1 uc004euq.3 Q01968 OTTHUMG00000022706 ENST00000371113.4:c.723-60A>C chrX.hg19:g.128694467A>C NA A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 hg19 CCDS35393.1 0.02 3.956656 AGAxCTT COVERED NOVEL OCRL-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058917.1 1 3.309443 KEEP 0 0 0 11 337 AA 0.993072 0.993072 0 + 7 60 244 0 0 15.713417 132 60 4634 152 ENST00000371113.4 0.05036 1 OCRL 4952 __UNKNOWN__ __UNKNOWN__ X 128725857 128725857 __UNKNOWN__ 3'UTR SNP A A G rs6529391 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:128725857A>G ENST00000371113.4 + 0 4481 OCRL_ENST00000357121.5_3'UTR NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe NA NA cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GAAGACTGAGAGCAGAACAGG 0.458 NA A||| 1049 0.277881 0.2073 0.0893 3775 , , NA 14716 0.497 NA 0.006 False NA ,,, NA NA NA 2504 0.2106 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant U57627 CCDS35393.1, CCDS35394.1 Xq25 2014-06-18 ENSG00000122126 ENSG00000122126 4952 8108 protein-coding gene gene with protein product 300535 NA Standard NM_000276 NM_001587 NA Approved OCRL1 uc004euq.3 Q01968 OTTHUMG00000022706 ENST00000371113.4:c.*1610A>G chrX.hg19:g.128725857A>G NA A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 hg19 CCDS35393.1 0.02 18.945251 GAGxGCA COVERED NOVEL OCRL-001 KNOWN non_canonical_conserved|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058917.1 3 20.463442 KEEP 0 0 0 68 2212 AA 1 1 0 + 18 60 653 0 0 40.686992 455 60 16346 612 ENST00000371113.4 0.038055 1 APLN 8862 __UNKNOWN__ __UNKNOWN__ X 128782536 128782536 __UNKNOWN__ Intron SNP G G A rs5977126 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:128782536G>A ENST00000429967.1 - 2 546 APLN_ENST00000307484.6_Intron|APLN_ENST00000427399.1_Intron Q9ULZ1 APEL_HUMAN apelin NA NA immune response (GO:0006955)|lactation (GO:0007595)|signal transduction (GO:0007165) extracellular region (GO:0005576) receptor binding (GO:0005102) NA AGGATCACCCGGCTTCTAGGC 0.572 NA g||| 880 0.233113 0.267 0.0865 3775 , , NA 12769 0.3502 NA 0.0268 False NA ,,, NA NA NA 2504 0.089 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF179680 Xq25 2013-02-25 2008-04-21 ENSG00000171388 ENSG00000171388 8862 Endogenous ligands 16665 protein-coding gene gene with protein product 300297 apelin, AGTRL1 ligand NA 9792798, 10525157 Standard NM_017413 NM_017413 NA Approved apelin, XNPEP2 uc004eus.3 Q9ULZ1 OTTHUMG00000022371 ENST00000429967.1:c.127+61C>T chrX.hg19:g.128782536G>A NA Q4VY08|Q8WU89 hg19 0.02 3.75416 CCCxGCT COVERED NOVEL APLN-001 KNOWN basic protein_coding NA protein_coding OTTHUMT00000058207.1 0 4.821681 KEEP 0 1 28 26 818 GG 0.999988 0.999987 0 - 6 60 196 0 0 11.979674 122 60 4083 180 ENST00000429967.1 0.046875 1 XPNPEP2 7512 __UNKNOWN__ __UNKNOWN__ X 128880614 128880614 __UNKNOWN__ Silent SNP T T C rs3747343 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:128880614T>C ENST00000371106.3 + 6 639 c.447T>C c.(445-447)ccT>ccC p.P149P XPNPEP2_ENST00000371105.3_Silent_p.P149P NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 149 NA anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237) endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 CCGAGATTCCTGCTGGAGGGC 0.537 NA C||| 2230 0.590728 0.6619 0.2622 3775 , , NA 13709 0.5923 NA 0.2306 False NA ,,, NA NA NA 2504 0.3517 NA NA NA NA 0 C 3023,812 1023,530,447,79,124 252 233 239 447 -2.8 0.2 X dbSNP_107 239 1805,4922 206,905,488,1317,1383 no coding-synonymous XPNPEP2 NM_003399.5 1229,1435,935,1396,1507 CC,CT,C,TT,T 26.8322,21.1734,45.711 149/675 128880614 4828,5734 2203 4299 6502 SO:0001819 synonymous_variant U90724 CCDS14613.1 Xq25 2008-02-05 ENSG00000122121 ENSG00000122121 7512 3.4.11.9 12823 protein-coding gene gene with protein product 300145 NA 9375790, 9628831 Standard NM_003399 NM_003399 NA Approved uc004eut.1 O43895 OTTHUMG00000022373 ENST00000371106.3:c.447T>C chrX.hg19:g.128880614T>C NA A0AV16|O75994 hg19 CCDS14613.1 0.02 5.880061 TCCxGCT COVERED NOVEL XPNPEP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058210.1 1 6.318872 KEEP 0 0 0 21 658 TT 0.999869 0.999869 0 + 9 60 320 0 0 20.524139 183 60 6885 243 ENST00000371106.3 0.046875 1 XPNPEP2 7512 __UNKNOWN__ __UNKNOWN__ X 128885567 128885567 __UNKNOWN__ Intron SNP A A G rs569129226|rs373374303 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:128885567A>G ENST00000371106.3 + 9 931 NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound NA NA anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237) endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 agaaagaaagaaagaaaggaa 0.343 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant U90724 CCDS14613.1 Xq25 2008-02-05 ENSG00000122121 ENSG00000122121 7512 3.4.11.9 12823 protein-coding gene gene with protein product 300145 NA 9375790, 9628831 Standard NM_003399 NM_003399 NA Approved uc004eut.1 O43895 OTTHUMG00000022373 ENST00000371106.3:c.740-154A>G chrX.hg19:g.128885567A>G NA A0AV16|O75994 hg19 CCDS14613.1 0.02 2.352347 AAGxAAG COVERED NOVEL XPNPEP2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058210.1 0 4.211953 KEEP 0 0 0 14 428 AA 0.995343 0.986349 0 + 7 49 268 1 0 20.75457 53 60 1861 78 ENST00000371106.3 0.116667 0.990964 UTP14A 10813 __UNKNOWN__ __UNKNOWN__ X 129058737 129058737 __UNKNOWN__ Intron SNP A A C rs2281277 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:129058737A>C ENST00000394422.3 + 12 1376 RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000371042.3_Intron NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 TACAAACCTCATTTTCTGACA 0.423 NA c||| 944 0.250066 0.3321 0.1023 3775 , , NA 14606 0.2123 NA 0.0895 False NA ,,, NA NA NA 2504 0.1329 NA NA NA NA 0 , 1534,2285 274,756,230,595,339 125 134 131 , 1 0 X dbSNP_100 131 645,6064 26,410,183,1988,1678 no intron,intron UTP14A NM_001166221.1,NM_006649.3 , 300,1166,413,2583,2017 CC,CA,C,AA,A 9.614,40.1676,20.6972 , , 129058737 2179,8349 2194 4285 6479 SO:0001627 intron_variant AF039694 CCDS14615.1, CCDS55489.1 Xq26.1 2009-01-15 2004-06-01 2004-06-01 ENSG00000156697 ENSG00000156697 10813 10665 protein-coding gene gene with protein product 300508 serologically defined colon cancer antigen 16 SDCCAG16 NA 9610721, 16354793 Standard NM_006649 NM_006649 NA Approved NY-CO-16 uc004euz.3 Q9BVJ6 OTTHUMG00000022378 ENST00000394422.3:c.1349-34A>C chrX.hg19:g.129058737A>C NA A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1 hg19 CCDS14615.1 0.02 15.164947 CTCxTTT COVERED NOVEL UTP14A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058221.1 2 17.75483 KEEP 0 0 0 59 1893 AA 1 1 0 + 15 60 556 0 0 36.439012 311 60 11504 483 ENST00000394422.3 0.046012 1 UTP14A 10813 __UNKNOWN__ __UNKNOWN__ X 129058882 129058882 __UNKNOWN__ Missense_Mutation SNP T T C rs2281278 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:129058882T>C ENST00000394422.3 + 12 1488 c.1460T>C c.(1459-1461)gTc>gCc p.V487A RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.V435A|UTP14A_ENST00000371051.5_Missense_Mutation_p.V433A|UTP14A_ENST00000371042.3_Missense_Mutation_p.V319A NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 487 NA V -> A (in dbSNP:rs2281278). rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 ATTCCCCAGGTCCAGAGAGAG 0.498 NA T||| 553 0.14649 0.0492 0.0749 3775 , , NA 12658 0.2123 NA 0.0885 False NA ,,, NA NA NA 2504 0.136 NA NA NA NA 0 T ALA/VAL,ALA/VAL 268,3567 11,212,34,1409,537 106 116 113 1304,1460 -3.6 0 X dbSNP_100 113 645,6083 26,411,182,1991,1690 no missense,missense UTP14A NM_001166221.1,NM_006649.3 64,64 37,623,216,3400,2227 CC,CT,C,TT,T 9.5868,6.9883,8.6434 benign,benign 435/720,487/772 129058882 913,9650 2203 4300 6503 SO:0001583 missense AF039694 CCDS14615.1, CCDS55489.1 Xq26.1 2009-01-15 2004-06-01 2004-06-01 ENSG00000156697 ENSG00000156697 10813 10665 protein-coding gene gene with protein product 300508 serologically defined colon cancer antigen 16 SDCCAG16 NA 9610721, 16354793 Standard NM_006649 NM_006649 NA Approved NY-CO-16 uc004euz.3 Q9BVJ6 OTTHUMG00000022378 ENST00000394422.3:c.1460T>C chrX.hg19:g.129058882T>C ENSP00000377944:p.Val487Ala NA A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1 hg19 CCDS14615.1 0.02 8.445248 AGGxCCA COVERED 228 0.13743218806509946 17 0.036016949152542374 14 0.040697674418604654 81 0.1588235294117647 46 0.06406685236768803 T 11.39 1.624912 0.28889 0.069883 0.095868 ENSG00000156697 ENST00000425117;ENST00000394422;ENST00000371051;ENST00000427972;ENST00000371042 T;T;T;T;T 0.34275 2.32;2.32;2.32;1.37;2.32 5.56 -3.57 0.04612 . 1.195410 0.05763 N 0.605334 T 0.00109 0.0003 L 0.52905 1.665 0.80722 P 0.0 B;B;B 0.15473 0.013;0.009;0.009 B;B;B 0.14023 0.006;0.01;0.01 T 0.26121 -1.0112 9 0.06625 T 0.88 1.2884 7.1982 0.25866 0.0:0.2462:0.4752:0.2786 rs2281278;rs52834948;rs2281278 433;435;487 F8WD00;E9PEL7;Q9BVJ6 .;.;UT14A_HUMAN A 435;487;433;319;319 ENSP00000388669:V435A;ENSP00000377944:V487A;ENSP00000360090:V433A;ENSP00000413187:V319A;ENSP00000360081:V319A ENSP00000360081:V319A V + 2 0 UTP14A 128886563 0.000000 0.05858 0.000000 0.03702 0.440000 0.31957 -0.671000 0.05250 -0.560000 0.06102 0.486000 0.48141 GTC NOVEL UTP14A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058221.1 4 15.044077 KEEP 0 0 0 50 1540 TT 1 1 0 + 10 60 347 0 0 22.130822 195 60 6909 288 ENST00000394422.3 0.04878 1 UTP14A 10813 __UNKNOWN__ __UNKNOWN__ X 129063293 129063293 __UNKNOWN__ Intron SNP C C A rs111975985 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:129063293C>A ENST00000394422.3 + 15 2071 RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371051.5_Intron|UTP14A_ENST00000371042.3_Intron NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) NA NA rRNA processing (GO:0006364) nucleus (GO:0005634)|small-subunit processome (GO:0032040) poly(A) RNA binding (GO:0044822) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 CATACCAAATCATTCTCCTTC 0.483 NA C||| 513 0.135894 0.0371 0.0692 3775 , , NA 14447 0.2103 NA 0.0785 False NA ,,, NA NA NA 2504 0.1278 NA NA NA NA 0 C , 202,3633 8,163,23,1461,548 86 79 81 , 3.3 0.1 X dbSNP_132 81 611,6117 23,390,175,2015,1697 no intron,intron UTP14A NM_001166221.1,NM_006649.3 , 31,553,198,3476,2245 AA,AC,A,CC,C 9.0815,5.2673,7.6967 , , 129063293 813,9750 2203 4300 6503 SO:0001627 intron_variant AF039694 CCDS14615.1, CCDS55489.1 Xq26.1 2009-01-15 2004-06-01 2004-06-01 ENSG00000156697 ENSG00000156697 10813 10665 protein-coding gene gene with protein product 300508 serologically defined colon cancer antigen 16 SDCCAG16 NA 9610721, 16354793 Standard NM_006649 NM_006649 NA Approved NY-CO-16 uc004euz.3 Q9BVJ6 OTTHUMG00000022378 ENST00000394422.3:c.2044-19C>A chrX.hg19:g.129063293C>A NA A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1 hg19 CCDS14615.1 0.02 8.085686 AATxATT COVERED NOVEL UTP14A-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058221.1 0 14.174582 KEEP 0 1 5 49 1753 CC 1 1 0 + 8 60 287 1 0 17.19297 239 60 9032 387 ENST00000394422.3 0.032389 1 IGSF1 3547 __UNKNOWN__ __UNKNOWN__ X 130420799 130420799 __UNKNOWN__ Intron SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:130420799C>G ENST00000370904.1 - 9 844 IGSF1_ENST00000370910.1_Intron|IGSF1_ENST00000370903.3_Intron|IGSF1_ENST00000361420.3_Intron|IGSF1_ENST00000370901.4_Intron|IGSF1_ENST00000370900.1_Intron Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 NA NA regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020) coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTTGACAACCCTACATTGTAC 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF034198 CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1 Xq25 2013-01-11 ENSG00000147255 ENSG00000147255 3547 Immunoglobulin superfamily / Immunoglobulin-like domain containing 5948 protein-coding gene gene with protein product 300137 NA 9521868, 9729118 Standard NM_001555 NA Approved KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2 uc004ewe.4 Q8N6C5 OTTHUMG00000022406 ENST00000370904.1:c.67-84G>C chrX.hg19:g.130420799C>G NA B5MEG2|H9KV64|O15070|Q9NTC8 hg19 CCDS55490.1 0.02 1.637282 ACCxTAC COVERED NOVEL IGSF1-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000058286.1 1 3.007062 KEEP 0 0 0 10 317 CC 0.992708 0.992648 0 - 5 60 160 0 0 9.86265 92 60 3465 112 ENST00000370904.1 0.051546 0.99994 OR13H1 347468 __UNKNOWN__ __UNKNOWN__ X 130678741 130678741 __UNKNOWN__ Missense_Mutation SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:130678741G>A ENST00000338616.3 + 1 792 c.694G>A c.(694-696)Ggc>Agc p.G232S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 232 NA integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CTCACTCCAGGGCAGGCTCAA 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 204 179 187 NA NA X NA 130678741 2203 4300 6503 SO:0001583 missense CCDS35396.1 Xq26.2 2012-08-23 ENSG00000171054 ENSG00000171054 347468 GPCR / Class A : Olfactory receptors 14755 protein-coding gene gene with protein product NA Standard NM_001004486 NA Approved uc011muw.2 Q8NG92 OTTHUMG00000022411 ENST00000338616.3:c.694G>A chrX.hg19:g.130678741G>A ENSP00000340748:p.Gly232Ser NA B2RNQ3|Q6IET8|Q96R12 hg19 CCDS35396.1 0.02 17.648543 CAGxGCA COVERED . . . . . . . . . . G 11.75 1.731766 0.30684 . . ENSG00000171054 ENST00000338616 T 0.00293 8.26 4.87 3.08 0.35506 GPCR, rhodopsin-like superfamily (1); 0.176675 0.27100 N 0.020929 T 0.00580 0.0019 M 0.82433 2.59 0.09310 N 1 D 0.89917 1.0 D 0.77004 0.989 T 0.40175 -0.9577 10 0.66056 D 0.02 . 7.5421 0.27744 0.2158:0.0:0.7842:0.0 . 232 Q8NG92 O13H1_HUMAN S 232 ENSP00000340748:G232S ENSP00000340748:G232S G + 1 0 OR13H1 130506422 0.065000 0.20965 0.001000 0.08648 0.014000 0.08584 1.259000 0.32956 0.462000 0.27095 0.594000 0.82650 GGC NOVEL OR13H1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058297.1 5 8.123726 KEEP 0 0 0 27 912 GG 0.999988 0.999988 0 + 13 60 489 0 0 29.82864 415 60 14947 497 ENST00000338616.3 0.030374 1 USP26 83844 __UNKNOWN__ __UNKNOWN__ X 132160826 132160826 __UNKNOWN__ Missense_Mutation SNP G G A rs41299088 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:132160826G>A ENST00000511190.1 - 6 1892 c.1423C>T c.(1423-1425)Cat>Tat p.H475Y USP26_ENST00000406273.1_Missense_Mutation_p.H475Y|USP26_ENST00000370832.1_Missense_Mutation_p.H475Y NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 475 USP. NA H -> Y (in dbSNP:rs41299088). {ECO:0000269|PubMed:15970005, ECO:0000269|PubMed:18927127}. protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GATGAAGGATGTGCTTTTATT 0.393 NA G||| 254 0.0672848 0.0817 0.0086 3775 , , NA 14399 0.0794 NA 0.006 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NSCLC(104;342 1621 36940 47097 52632) NA 0 GRCh37 CM056716 USP26 M rs41299088 G TYR/HIS 346,3489 11,271,53,1350,518 108 105 106 1423 -4.1 0 X dbSNP_127 106 30,6698 0,19,11,2409,1861 yes missense USP26 NM_031907.1 83 11,290,64,3759,2379 AA,AG,A,GG,G 0.4459,9.0222,3.5596 benign 475/914 132160826 376,10187 2203 4300 6503 SO:0001583 missense AF285593 CCDS14635.1 Xq26.2 2012-07-13 2005-08-08 ENSG00000134588 ENSG00000134588 83844 3.4.19.12 Ubiquitin-specific peptidases 13485 protein-coding gene gene with protein product 300309 ubiquitin specific protease 26 NA 12838346 Standard NM_031907 NM_031907 NA Approved uc011mvf.2 Q9BXU7 OTTHUMG00000022429 ENST00000511190.1:c.1423C>T chrX.hg19:g.132160826G>A ENSP00000423390:p.His475Tyr NA B9WRT6|Q5H9H4 hg19 CCDS14635.1 0.02 14.568704 GATxTGC COVERED 97 0.05846895720313442 21 0.046052631578947366 3 0.008287292817679558 40 0.072992700729927 2 0.0026455026455026454 G 0.005 -2.177344 0.00312 0.090222 0.004459 ENSG00000134588 ENST00000370832;ENST00000511190;ENST00000406273 T;T;T 0.54279 0.58;0.58;0.58 3.75 -4.08 0.03963 Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2); 4.071000 0.00881 N 0.002135 T 0.01092 0.0036 N 0.12182 0.205 0.80722 P 0.0 B 0.14438 0.01 B 0.25759 0.063 T 0.20505 -1.0273 9 0.02654 T 1 4.4589 6.2596 0.20893 0.4447:0.3735:0.1818:0.0 rs41299088;rs61741885 475 Q9BXU7 UBP26_HUMAN Y 475 ENSP00000359869:H475Y;ENSP00000423390:H475Y;ENSP00000384360:H475Y ENSP00000359869:H475Y H - 1 0 USP26 131988492 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.739000 0.04866 -1.302000 0.02335 -1.122000 0.02009 CAT NOVEL USP26-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359441.1 1 9.02951 KEEP 0 0 0 30 1063 GG 0.999997 0.999997 0 - 17 60 609 0 0 38.619598 376 60 14077 470 ENST00000511190.1 0.043257 1 USP26 83844 __UNKNOWN__ __UNKNOWN__ X 132161755 132161755 __UNKNOWN__ Missense_Mutation SNP A A G rs61741870 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:132161755A>G ENST00000511190.1 - 6 963 c.494T>C c.(493-495)tTg>tCg p.L165S USP26_ENST00000406273.1_Missense_Mutation_p.L165S|USP26_ENST00000370832.1_Missense_Mutation_p.L165S NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 165 NA L -> S (in dbSNP:rs61741870). {ECO:0000269|PubMed:18927127}. protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511) nucleus (GO:0005634) cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) AGTAAGTGTCAATTTTGATGT 0.383 NA G||| 254 0.0672848 0.0817 0.0086 3775 , , NA 15141 0.0794 NA 0.006 False NA ,,, NA NA NA 2504 0.0552 NA NA NA NSCLC(104;342 1621 36940 47097 52632) NA 0 GRCh37 CM056723 USP26 M rs61741870 G SER/LEU 347,3488 11,272,53,1349,518 95 77 83 494 1.2 0 X dbSNP_129 83 30,6696 0,19,11,2408,1861 yes missense USP26 NM_031907.1 145 11,291,64,3757,2379 GG,GA,G,AA,A 0.446,9.0482,3.5697 benign 165/914 132161755 377,10184 2203 4299 6502 SO:0001583 missense AF285593 CCDS14635.1 Xq26.2 2012-07-13 2005-08-08 ENSG00000134588 ENSG00000134588 83844 3.4.19.12 Ubiquitin-specific peptidases 13485 protein-coding gene gene with protein product 300309 ubiquitin specific protease 26 NA 12838346 Standard NM_031907 NM_031907 NA Approved uc011mvf.2 Q9BXU7 OTTHUMG00000022429 ENST00000511190.1:c.494T>C chrX.hg19:g.132161755A>G ENSP00000423390:p.Leu165Ser NA B9WRT6|Q5H9H4 hg19 CCDS14635.1 0.02 9.128156 GTCxATT COVERED 97 0.05846895720313442 21 0.046052631578947366 3 0.008287292817679558 40 0.072992700729927 2 0.0026455026455026454 G 0.720 -0.783855 0.02907 0.090482 0.00446 ENSG00000134588 ENST00000370832;ENST00000511190;ENST00000406273 T;T;T 0.48522 0.81;0.81;0.81 4.01 1.25 0.21368 . 0.336884 0.16881 N 0.195694 T 0.00666 0.0022 N 0.08118 0 0.80722 P 0.0 B 0.02656 0.0 B 0.01281 0.0 T 0.24333 -1.0163 9 0.02654 T 1 3.2107 6.446 0.21877 0.4612:0.0:0.5388:0.0 . 165 Q9BXU7 UBP26_HUMAN S 165 ENSP00000359869:L165S;ENSP00000423390:L165S;ENSP00000384360:L165S ENSP00000359869:L165S L - 2 0 USP26 131989421 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 0.385000 0.20685 -0.092000 0.12417 -0.272000 0.10252 TTG NOVEL USP26-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000359441.1 2 9.026302 KEEP 0 0 0 30 917 AA 0.999997 0.999997 0 - 11 60 361 0 0 21.106237 276 60 10177 369 ENST00000511190.1 0.038328 1 HPRT1 3251 __UNKNOWN__ __UNKNOWN__ X 133632439 133632439 __UNKNOWN__ Missense_Mutation SNP C C G rs534390401 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:133632439C>G ENST00000298556.7 + 7 664 c.505C>G c.(505-507)Cca>Gca p.P169A HPRT1_ENST00000462974.1_3'UTR NM_000194.2 NP_000185.1 P00492 HPRT_HUMAN hypoxanthine phosphoribosyltransferase 1 169 NA adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(192;0.000127) Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352) GAAAAGGACCCCACGAAGTGT 0.348 NA C||| 3 0.000794702 0.0 0.0 3775 , , NA 15365 0.002 NA 0.0 False NA ,,, NA NA NA 2504 0.001 NA NA NA NA 0 185 182 183 NA NA X NA 133632439 2203 4300 6503 SO:0001583 missense M26434 CCDS14641.1 Xq26.2 2012-10-02 2008-08-01 ENSG00000165704 ENSG00000165704 3251 2.4.2.8 5157 protein-coding gene gene with protein product Lesch-Nyhan syndrome 308000 HPRT NA 12175903 Standard NM_000194 NM_000194 NA Approved HGPRT uc004exl.4 P00492 OTTHUMG00000022452 ENST00000298556.7:c.505C>G chrX.hg19:g.133632439C>G ENSP00000298556:p.Pro169Ala NA A6NHF0|B2R8M9 hg19 CCDS14641.1 0.02 7.584275 ACCxCAC COVERED . . . . . . . . . . C 13.02 2.112942 0.37242 . . ENSG00000165704 ENST00000298556;ENST00000370796 D 0.99846 -7.13 5.79 3.8 0.43715 . 0.050991 0.85682 D 0.000000 D 0.98698 0.9563 N 0.21373 0.66 0.54753 D 0.999983 B 0.12630 0.006 B 0.08055 0.003 D 0.97912 1.0309 10 0.40728 T 0.16 -5.4811 11.6604 0.51343 0.0:0.8958:0.0:0.1042 . 169 P00492 HPRT_HUMAN A 169 ENSP00000298556:P169A ENSP00000298556:P169A P + 1 0 HPRT1 133460105 0.998000 0.40836 0.991000 0.47740 0.938000 0.57974 2.237000 0.43061 0.469000 0.27268 0.600000 0.82982 CCA NOVEL HPRT1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058361.1 2 13.242955 KEEP 0 0 0 44 1551 CC 1 1 0 + 7 60 247 0 0 14.361424 229 60 8205 316 ENST00000298556.7 0.029661 1 FAM122C 159091 __UNKNOWN__ __UNKNOWN__ X 133948793 133948793 __UNKNOWN__ Intron SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:133948793C>T ENST00000370785.3 + 2 515 FAM122C_ENST00000370784.4_Intron|FAM122C_ENST00000414371.2_Intron|FAM122C_ENST00000445123.1_Intron NM_138819.3 NP_620174.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C NA NA endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) TTTTGTTTTTCTTTTTAGTTT 0.348 NA NA NA NA NA NA NA NA NA NA NA 0 53 53 53 NA NA X NA 133948793 2202 4299 6501 SO:0001627 intron_variant BC017868 CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1 Xq26.3 2008-02-05 2006-07-11 ENSG00000156500 ENSG00000156500 159091 25202 protein-coding gene gene with protein product NA 12477932 Standard NM_138819 NM_138819 NA Approved RP3-473B4.1 uc004exz.2 Q6P4D5 OTTHUMG00000022716 ENST00000370785.3:c.111-8C>T chrX.hg19:g.133948793C>T NA F5H036|Q8WVK9 hg19 CCDS14644.1 0.02 6.295856 TTTxTTT COVERED NOVEL FAM122C-001 KNOWN basic|appris_candidate|CCDS protein_coding NA protein_coding OTTHUMT00000058955.1 5 16.054434 KEEP 0 7 79 82 2769 CC 1 1 0 + 18 60 327 0 0 14.643944 241 60 8561 427 ENST00000370785.3 0.069498 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135426693 135426693 __UNKNOWN__ Missense_Mutation SNP A A G rs4829829 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135426693A>G ENST00000394143.1 + 6 1119 c.828A>G c.(826-828)atA>atG p.I276M GPR112_ENST00000394141.1_Missense_Mutation_p.I71M|GPR112_ENST00000412101.1_Missense_Mutation_p.I71M|GPR112_ENST00000370652.1_Missense_Mutation_p.I276M|GPR112_ENST00000287534.4_Missense_Mutation_p.I213M NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 276 NA I -> M (in dbSNP:rs4829829). {ECO:0000269|Ref.2}. G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCATACCTATATTTGCAACTG 0.363 NA a||| 1702 0.450861 0.4228 0.3545 3775 , , NA 15401 0.2024 NA 0.3738 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 0 MET/ILE 2087,1748 484,812,307,336,264 199 154 169 828 -8.6 0 X dbSNP_111 169 3203,3525 555,1185,908,688,964 yes missense GPR112 NM_153834.3 10 1039,1997,1215,1024,1228 GG,GA,G,AA,A 47.607,45.5802,49.9195 benign 276/3081 135426693 5290,5273 2203 4300 6503 SO:0001583 missense AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.828A>G chrX.hg19:g.135426693A>G ENSP00000377699:p.Ile276Met NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 13.490671 TATxTTT COVERED 710 0.4279686558167571 138 0.372972972972973 80 0.27972027972027974 76 0.15702479338842976 187 0.3191126279863481 a 2.435 -0.329891 0.05314 0.544198 0.47607 ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.30448 1.55;1.55;1.53;1.66;1.53 4.27 -8.55 0.00908 . . . . . T 0.00012 0.0000 N 0.08118 0 0.80722 P 0.0 B;B;B 0.11235 0.004;0.002;0.001 B;B;B 0.09377 0.004;0.004;0.002 T 0.43228 -0.9404 8 0.37606 T 0.19 . 0.3544 0.00354 0.2435:0.2422:0.2647:0.2496 rs4829829;rs59872615;rs4829829 213;71;276 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN M 276;276;71;213;71 ENSP00000377699:I276M;ENSP00000359686:I276M;ENSP00000416526:I71M;ENSP00000287534:I213M;ENSP00000377697:I71M ENSP00000287534:I213M I + 3 3 GPR112 135254359 0.001000 0.12720 0.000000 0.03702 0.050000 0.14768 -0.872000 0.04219 -2.190000 0.00757 -0.485000 0.04761 ATA NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 3 9.027614 KEEP 0 0 0 30 947 AA 0.999997 0.999997 0 + 12 60 449 0 0 28.548137 300 60 10776 396 ENST00000394143.1 0.038462 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135426968 135426968 __UNKNOWN__ Missense_Mutation SNP C C A rs5930931 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135426968C>A ENST00000394143.1 + 6 1394 c.1103C>A c.(1102-1104)cCt>cAt p.P368H GPR112_ENST00000394141.1_Missense_Mutation_p.P163H|GPR112_ENST00000412101.1_Missense_Mutation_p.P163H|GPR112_ENST00000370652.1_Missense_Mutation_p.P368H|GPR112_ENST00000287534.4_Missense_Mutation_p.P305H NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 368 NA P -> H (in dbSNP:rs5930931). {ECO:0000269|Ref.2}. G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.P368L(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTTCAACCACCTACACCTTCT 0.368 NA c||| 1700 0.450331 0.4213 0.3545 3775 , , NA 16744 0.2024 NA 0.3738 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 1 Substitution - Missense(1) prostate(1) HIS/PRO 2081,1754 479,816,307,337,264 84 78 80 1103 2.1 0 X dbSNP_114 80 3200,3528 554,1184,908,690,964 yes missense GPR112 NM_153834.3 77 1033,2000,1215,1027,1228 AA,AC,A,CC,C 47.5624,45.7366,49.9953 possibly-damaging 368/3081 135426968 5281,5282 2203 4300 6503 SO:0001583 missense AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.1103C>A chrX.hg19:g.135426968C>A ENSP00000377699:p.Pro368His NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 15.894157 CACxTAC COVERED 706 0.4255575647980711 138 0.3689839572192513 80 0.27972027972027974 76 0.15702479338842976 186 0.3174061433447099 c 2.747 -0.260836 0.05791 0.542634 0.475624 ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.29397 1.61;1.61;1.57;1.71;1.57 3.95 2.08 0.27032 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 D;P;P 0.55605 0.972;0.924;0.875 P;P;B 0.49047 0.599;0.46;0.271 T 0.44544 -0.9321 8 0.66056 D 0.02 . 8.6564 0.34066 0.3924:0.6076:0.0:0.0 rs5930931;rs58573078;rs5930931 305;163;368 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN H 368;368;163;305;163 ENSP00000377699:P368H;ENSP00000359686:P368H;ENSP00000416526:P163H;ENSP00000287534:P305H;ENSP00000377697:P163H ENSP00000287534:P305H P + 2 0 GPR112 135254634 0.000000 0.05858 0.000000 0.03702 0.008000 0.06430 0.303000 0.19210 0.238000 0.21222 -0.519000 0.04390 CCT NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 4 6.253798 KEEP 0 1 26 30 1057 CC 0.999997 0.999997 0 + 17 60 625 0 1 40.732338 350 60 13171 466 ENST00000394143.1 0.046322 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135429503 135429503 __UNKNOWN__ Missense_Mutation SNP C C A rs4829830 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135429503C>A ENST00000394143.1 + 6 3929 c.3638C>A c.(3637-3639)aCc>aAc p.T1213N GPR112_ENST00000394141.1_Missense_Mutation_p.T1008N|GPR112_ENST00000412101.1_Missense_Mutation_p.T1008N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1213N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1150N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1213 NA T -> N (in dbSNP:rs4829830). G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GTTGATGAGACCACACCCTCA 0.473 NA c||| 1760 0.466225 0.4289 0.3573 3775 , , NA 15390 0.246 NA 0.3797 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 ASN/THR 2122,1713 502,805,313,325,258 214 183 193 3638 -1.5 0 X dbSNP_111 193 3220,3508 566,1176,912,686,960 yes missense GPR112 NM_153834.3 65 1068,1981,1225,1011,1218 AA,AC,A,CC,C 47.8597,44.6675,49.4272 benign 1213/3081 135429503 5342,5221 2203 4300 6503 SO:0001583 missense AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.3638C>A chrX.hg19:g.135429503C>A ENSP00000377699:p.Thr1213Asn NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 15.199474 AGAxCAC COVERED 746 0.4496684749849307 138 0.372972972972973 83 0.2902097902097902 99 0.21063829787234042 190 0.3242320819112628 c 6.546 0.469051 0.12461 0.553325 0.478597 ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.33865 1.43;1.43;1.39;1.52;1.39 2.98 -1.46 0.08800 . . . . . T 0.00012 0.0000 N 0.14661 0.345 0.80722 P 0.0 B;B;B 0.15930 0.015;0.001;0.001 B;B;B 0.14578 0.011;0.003;0.001 T 0.46190 -0.9209 8 0.37606 T 0.19 . 0.3457 0.00341 0.2044:0.3206:0.1987:0.2763 rs4829830;rs58174019;rs4829830 1150;1008;1213 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN N 1213;1213;1008;1150;1008 ENSP00000377699:T1213N;ENSP00000359686:T1213N;ENSP00000416526:T1008N;ENSP00000287534:T1150N;ENSP00000377697:T1008N ENSP00000287534:T1150N T + 2 0 GPR112 135257169 0.000000 0.05858 0.000000 0.03702 0.032000 0.12392 -0.312000 0.08113 -0.347000 0.08299 -0.313000 0.08912 ACC NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 2 9.631527 KEEP 0 0 0 32 1141 CC 0.999997 0.999997 0 + 13 60 476 0 0 29.242631 365 60 13377 479 ENST00000394143.1 0.034392 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135430044 135430044 __UNKNOWN__ Silent SNP T T C rs877761 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135430044T>C ENST00000394143.1 + 6 4470 c.4179T>C c.(4177-4179)acT>acC p.T1393T GPR112_ENST00000394141.1_Silent_p.T1188T|GPR112_ENST00000412101.1_Silent_p.T1188T|GPR112_ENST00000370652.1_Silent_p.T1393T|GPR112_ENST00000287534.4_Silent_p.T1330T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1393 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTCCCAGGACTGTGGAAATGA 0.448 NA c||| 2014 0.53351 0.5983 0.3847 3775 , , NA 16408 0.255 NA 0.3817 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 2878,957 910,628,430,94,141 170 160 163 4179 -1.4 0 X dbSNP_86 163 3231,3497 571,1175,914,682,958 no coding-synonymous GPR112 NM_153834.3 1481,1803,1344,776,1099 CC,CT,C,TT,T 48.0232,24.9544,42.1661 1393/3081 135430044 6109,4454 2203 4300 6503 SO:0001819 synonymous_variant AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.4179T>C chrX.hg19:g.135430044T>C NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 16.365071 GACxGTG COVERED NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 2 15.647685 KEEP 0 0 0 52 1643 TT 1 1 0 + 13 60 442 0 0 24.451926 470 60 17576 635 ENST00000394143.1 0.026915 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135430483 135430483 __UNKNOWN__ Missense_Mutation SNP T T C rs912002 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135430483T>C ENST00000394143.1 + 6 4909 c.4618T>C c.(4618-4620)Tct>Cct p.S1540P GPR112_ENST00000394141.1_Missense_Mutation_p.S1335P|GPR112_ENST00000412101.1_Missense_Mutation_p.S1335P|GPR112_ENST00000370652.1_Missense_Mutation_p.S1540P|GPR112_ENST00000287534.4_Missense_Mutation_p.S1477P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1540 NA S -> P (in dbSNP:rs912002). G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACTAAATCTTCTAAAACAAT 0.418 NA t||| 1764 0.467285 0.4251 0.3573 3775 , , NA 14599 0.255 NA 0.3797 False NA ,,, NA NA NA 2504 0.3221 NA NA NA NA 0 PRO/SER 2110,1725 493,813,311,326,260 96 94 95 4618 1.7 0.1 X dbSNP_86 95 3223,3505 567,1177,912,684,960 yes missense GPR112 NM_153834.3 74 1060,1990,1223,1010,1220 CC,CT,C,TT,T 47.9043,44.9804,49.5124 probably-damaging 1540/3081 135430483 5333,5230 2203 4300 6503 SO:0001583 missense AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.4618T>C chrX.hg19:g.135430483T>C ENSP00000377699:p.Ser1540Pro NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 22.067068 TCTxCTA COVERED 754 0.45449065702230257 137 0.37027027027027026 83 0.2902097902097902 103 0.22391304347826088 190 0.3242320819112628 t 14.52 2.560180 0.45590 0.550196 0.479043 ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.40756 1.06;1.06;1.02;1.13;1.02 3.02 1.66 0.24008 . . . . . T 0.00012 0.0000 L 0.34521 1.04 0.80722 P 0.0 D;D;D 0.76494 0.997;0.999;0.998 D;D;D 0.80764 0.986;0.994;0.987 T 0.44483 -0.9325 8 0.87932 D 0 . 4.2365 0.10628 0.3093:0.0:0.0:0.6907 rs912002;rs52799687;rs61339577;rs912002 1477;1335;1540 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN P 1540;1540;1335;1477;1335 ENSP00000377699:S1540P;ENSP00000359686:S1540P;ENSP00000416526:S1335P;ENSP00000287534:S1477P;ENSP00000377697:S1335P ENSP00000287534:S1477P S + 1 0 GPR112 135258149 0.316000 0.24580 0.086000 0.20670 0.250000 0.25880 0.927000 0.28818 1.195000 0.43115 0.378000 0.23410 TCT NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 5 8.524259 KEEP 0 3 108 66 2029 TT 1 1 0 + 18 60 674 0 0 41.942612 508 60 17988 685 ENST00000394143.1 0.034221 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135431236 135431236 __UNKNOWN__ Missense_Mutation SNP T T C rs5930932 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135431236T>C ENST00000394143.1 + 6 5662 c.5371T>C c.(5371-5373)Ttt>Ctt p.F1791L GPR112_ENST00000394141.1_Missense_Mutation_p.F1586L|GPR112_ENST00000412101.1_Missense_Mutation_p.F1586L|GPR112_ENST00000370652.1_Missense_Mutation_p.F1791L|GPR112_ENST00000287534.4_Missense_Mutation_p.F1728L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1791 NA F -> L (in dbSNP:rs5930932). G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) p.F1791L(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CACCAATTGCTTTTCTTCTAA 0.383 NA c||| 1834 0.485828 0.4569 0.3617 3775 , , NA 15609 0.2778 NA 0.3797 False NA ,,, NA NA NA 2504 0.3241 NA NA NA NA 1 Substitution - Missense(1) prostate(1) LEU/PHE 2257,1576 567,784,339,280,232 133 133 133 5371 -1.8 0 X dbSNP_114 133 3229,3499 567,1181,914,680,958 yes missense GPR112 NM_153834.3 22 1134,1965,1253,960,1190 CC,CT,C,TT,T 47.9935,41.1166,48.0542 benign 1791/3081 135431236 5486,5075 2202 4300 6502 SO:0001583 missense AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.5371T>C chrX.hg19:g.135431236T>C ENSP00000377699:p.Phe1791Leu NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 24.395686 TGCxTTT COVERED 786 0.47377938517179025 152 0.4175824175824176 84 0.29577464788732394 112 0.24669603524229075 190 0.3242320819112628 c 0.020 -1.432654 0.01108 0.588834 0.479935 ENSG00000156920 ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141 T;T;T;T;T 0.20463 2.11;2.11;2.07;2.25;2.07 3.63 -1.78 0.07957 . . . . . T 0.00012 0.0000 N 0.01352 -0.895 0.80722 P 0.0 B;B;B 0.02656 0.0;0.0;0.0 B;B;B 0.01281 0.0;0.0;0.0 T 0.37291 -0.9712 8 0.21014 T 0.42 . 5.3382 0.15969 0.0:0.2802:0.1606:0.5593 rs5930932;rs6635265;rs52832481;rs60264923;rs5930932 1728;1586;1791 Q8IZF6-2;Q8IZF6-3;Q8IZF6 .;.;GP112_HUMAN L 1791;1791;1586;1728;1586 ENSP00000377699:F1791L;ENSP00000359686:F1791L;ENSP00000416526:F1586L;ENSP00000287534:F1728L;ENSP00000377697:F1586L ENSP00000287534:F1728L F + 1 0 GPR112 135258902 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -0.934000 0.03955 -1.013000 0.03383 -1.690000 0.00728 TTT NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 7 8.46082 KEEP 0 1 34 40 1290 TT 1 1 0 + 17 60 638 0 0 38.619176 561 60 20469 686 ENST00000394143.1 0.029412 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135474420 135474420 __UNKNOWN__ Silent SNP C C A rs1329546 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135474420C>A ENST00000394143.1 + 17 8232 c.7941C>A c.(7939-7941)acC>acA p.T2647T GPR112_ENST00000394141.1_Silent_p.T2442T|GPR112_ENST00000412101.1_Silent_p.T2442T|GPR112_ENST00000370652.1_Silent_p.T2647T|GPR112_ENST00000287534.4_Silent_p.T2400T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2647 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CATTAACCACCTATGTTGTGA 0.363 NA A||| 2783 0.737219 0.5242 0.5879 3775 , , NA 15234 0.7014 NA 0.4801 False NA ,,, NA NA NA 2504 0.5031 NA NA NA NA 0 A 2635,1200 770,695,400,167,171 107 99 102 7941 -9.6 0.4 X dbSNP_88 102 4075,2653 890,1161,1134,377,738 no coding-synonymous GPR112 NM_153834.3 1660,1856,1534,544,909 AA,AC,A,CC,C 39.4322,31.2907,36.4764 2647/3081 135474420 6710,3853 2203 4300 6503 SO:0001819 synonymous_variant AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.7941C>A chrX.hg19:g.135474420C>A NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 10.451549 CACxTAT COVERED NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 0 8.42712 KEEP 0 0 0 28 974 CC 0.999997 0.999997 0 + 11 60 403 0 0 25.754791 250 60 9103 341 ENST00000394143.1 0.042146 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135480126 135480126 __UNKNOWN__ Silent SNP T T C rs5974595 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135480126T>C ENST00000394143.1 + 20 8562 c.8271T>C c.(8269-8271)ttT>ttC p.F2757F GPR112_ENST00000394141.1_Silent_p.F2552F|GPR112_ENST00000412101.1_Silent_p.F2552F|GPR112_ENST00000370652.1_Silent_p.F2757F|GPR112_ENST00000287534.4_Silent_p.F2510F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2757 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CCTCCATTTTTCTGGGAGTTG 0.393 NA C||| 2899 0.767947 0.6029 0.5994 3775 , , NA 15704 0.7024 NA 0.4821 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 C 2993,842 988,565,452,79,119 173 141 152 8271 0.8 1 X dbSNP_114 152 4083,2645 896,1155,1136,377,736 no coding-synonymous GPR112 NM_153834.3 1884,1720,1588,456,855 CC,CT,C,TT,T 39.3133,21.9557,33.0115 2757/3081 135480126 7076,3487 2203 4300 6503 SO:0001819 synonymous_variant AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.8271T>C chrX.hg19:g.135480126T>C NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 7.604231 TTTxCTG COVERED NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 3 7.045383 KEEP 0 1 36 36 1146 TT 1 1 0 + 12 60 466 0 0 32.92119 177 60 6385 276 ENST00000394143.1 0.063492 1 GPR112 139378 __UNKNOWN__ __UNKNOWN__ X 135496398 135496398 __UNKNOWN__ Silent SNP G G A rs5930942 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135496398G>A ENST00000394143.1 + 25 9408 c.9117G>A c.(9115-9117)acG>acA p.T3039T GPR112_ENST00000394141.1_Silent_p.T2834T|GPR112_ENST00000412101.1_Silent_p.T2834T|GPR112_ENST00000370652.1_Silent_p.T3039T|GPR112_ENST00000287534.4_Silent_p.T2758T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3039 NA G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACTGTTGACGCCATCTCTCA 0.408 NA A||| 2894 0.766623 0.5991 0.5994 3775 , , NA 12714 0.7024 NA 0.4821 False NA ,,, NA NA NA 2504 0.5041 NA NA NA NA 0 A 2956,879 960,588,448,84,123 141 140 140 9117 -0.1 0.1 X dbSNP_114 140 4080,2648 895,1155,1135,378,737 no coding-synonymous GPR112 NM_153834.3 1855,1743,1583,462,860 AA,AG,A,GG,G 39.3579,22.9205,33.3901 3039/3081 135496398 7036,3527 2203 4300 6503 SO:0001819 synonymous_variant AY140954 CCDS35409.1 Xq26.3 2014-08-08 ENSG00000156920 ENSG00000156920 139378 -, GPCR / Class B : Orphans 18992 protein-coding gene gene with protein product NA 12435584 Standard XM_005262367 NA Approved RP1-299I16, PGR17 uc004ezu.1 Q8IZF6 OTTHUMG00000022508 ENST00000394143.1:c.9117G>A chrX.hg19:g.135496398G>A NA A2A2J1|A2A2J2|Q5EGP2|Q86SM6 hg19 CCDS35409.1 0.02 14.395686 GACxCCA COVERED NOVEL GPR112-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000286639.1 4 15.64984 KEEP 0 0 0 52 1791 GG 1 1 0 + 11 60 400 0 0 23.948342 345 60 12060 497 ENST00000394143.1 0.030899 1 RBMX 27316 __UNKNOWN__ __UNKNOWN__ X 135955996 135955996 __UNKNOWN__ 3'UTR SNP G G A rs850 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135955996G>A ENST00000320676.7 - 0 1635 RBMX_ENST00000496459.2_5'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_3'UTR NM_002139.3 NP_002130.2 P38159 RBMX_HUMAN RNA binding motif protein, X-linked NA NA cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGCCTCATTTGCTGGGAAAAA 0.368 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS14661.1, CCDS55510.1 Xq26 2013-05-23 2003-09-12 ENSG00000147274 ENSG00000147274 27316 RNA binding motif (RRM) containing 9910 protein-coding gene gene with protein product heterogeneous nuclear ribonucleoprotein G 300199 RNA binding motif protein, X chromosome NA 10391206, 10391207 Standard NM_002139 NM_002139 NA Approved RNMX, hnRNP-G, HNRNPG uc004fae.2 P38159 OTTHUMG00000022517 ENST00000320676.7:c.*305C>T chrX.hg19:g.135955996G>A NA B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3 hg19 CCDS14661.1 0.02 35.541496 TTTxCTG COVERED NOVEL RBMX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058507.1 7 31.905162 KEEP 9 0 0 106 3849 GG 1 1 0 - 55 41 1945 0 0 132.97497 772 60 29551 1154 ENST00000320676.7 0.066505 1 RBMX 27316 __UNKNOWN__ __UNKNOWN__ X 135956342 135956342 __UNKNOWN__ Missense_Mutation SNP C C G rs72615484 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:135956342C>G ENST00000320676.7 - 9 1289 c.1135G>C c.(1135-1137)Gga>Cga p.G379R RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000570135.1_Missense_Mutation_p.G244R|RBMX_ENST00000565438.1_Missense_Mutation_p.G251R NM_002139.3 NP_002130.2 P38159 RBMX_HUMAN RNA binding motif protein, X-linked 379 Necessary for RNA-binding. NA cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366) catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530) chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GATCGGCTTCCTCCACGGCCA 0.498 NA NA NA NA NA NA NA NA NA NA NA 0 47 48 48 NA NA X NA 135956342 2195 4274 6469 SO:0001583 missense CCDS14661.1, CCDS55510.1 Xq26 2013-05-23 2003-09-12 ENSG00000147274 ENSG00000147274 27316 RNA binding motif (RRM) containing 9910 protein-coding gene gene with protein product heterogeneous nuclear ribonucleoprotein G 300199 RNA binding motif protein, X chromosome NA 10391206, 10391207 Standard NM_002139 NM_002139 NA Approved RNMX, hnRNP-G, HNRNPG uc004fae.2 P38159 OTTHUMG00000022517 ENST00000320676.7:c.1135G>C chrX.hg19:g.135956342C>G ENSP00000359645:p.Gly379Arg NA B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3 hg19 CCDS14661.1 0.02 4.019473 TTCxTCC COVERED . . . . . . . . . . . 12.97 2.097656 0.37048 . . ENSG00000147274 ENST00000320676;ENST00000449161 T 0.80653 -1.4 5.54 5.54 0.83059 . 0.000000 0.85682 U 0.000000 D 0.88235 0.6382 L 0.61218 1.895 0.80722 D 1 D 0.89917 1.0 D 0.83275 0.996 D 0.86056 0.1529 10 0.29301 T 0.29 . 18.509 0.90909 0.0:1.0:0.0:0.0 . 379 P38159 HNRPG_HUMAN R 379;366 ENSP00000359645:G379R ENSP00000359645:G379R G - 1 0 RBMX 135784008 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.692000 0.84203 2.313000 0.78055 0.508000 0.49915 GGA NOVEL RBMX-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058507.1 1 3.44598 KEEP 1 1 33 23 783 CC 0.999909 0.999909 0 - 14 60 394 0 0 27.885372 99 60 3657 179 ENST00000320676.7 0.123894 1 F9 2158 __UNKNOWN__ __UNKNOWN__ X 138644822 138644822 __UNKNOWN__ 3'UTR SNP T T C rs565245871 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:138644822T>C ENST00000218099.2 + 0 1985 NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX NA NA blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508) endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Menadione(DB00170) CTCTCCCTTTTACCCTCCATG 0.418 NA T||| 2 0.000529801 0.0 0.0 3775 , , NA 8895 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.002 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M11309 CCDS14666.1 Xq26.3-q27.1 2014-09-17 2008-08-01 ENSG00000101981 ENSG00000101981 2158 3.4.21.22 3551 protein-coding gene gene with protein product Factor IX, plasma thromboplastic component, Christmas disease, hemophilia B 300746 NA Standard NM_000133 NA Approved FIX uc004fas.1 P00740 OTTHUMG00000022536 ENST00000218099.2:c.*592T>C chrX.hg19:g.138644822T>C NA A8K9N4|F2RM36|Q5FBE1|Q5JYJ8 hg19 CCDS14666.1 0.02 4.164514 TTTxACC COVERED NOVEL F9-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058557.1 0 2.706934 KEEP 0 0 0 9 253 TT 0.99254 0.992525 0 + 5 60 186 0 0 12.281101 99 60 3413 128 ENST00000218099.2 0.048077 0.999984 ATP11C 286410 __UNKNOWN__ __UNKNOWN__ X 138909076 138909076 __UNKNOWN__ Intron SNP T T C rs576598022 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:138909076T>C ENST00000361648.2 - 2 135 ATP11C_ENST00000370543.1_Intron|ATP11C_ENST00000359686.2_Intron|ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000327569.3_Intron NM_001010986.2 NP_001010986 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C NA NA ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGCTGGGCCATAATCTGGCGA 0.398 NA T||| 53 0.0140397 0.0 0.0 3775 , , NA 15171 0.0 NA 0.0 False NA ,,, NA NA NA 2504 0.0542 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AJ580094 CCDS14668.1, CCDS35410.1 Xq27.1 2011-06-09 2007-09-19 ENSG00000101974 ENSG00000101974 286410 ATPases / P-type 13554 protein-coding gene gene with protein product 300516 ATPase, Class VI, type 11C NA 11015572 Standard NM_173694 NM_173694 NA Approved ATPIG, ATPIQ uc004faz.3 Q8NB49 OTTHUMG00000022538 ENST00000361648.2:c.37-94A>G chrX.hg19:g.138909076T>C NA Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24 hg19 CCDS35410.1 0.02 11.552781 CCAxAAT COVERED NOVEL ATP11C-009 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000354990.1 0 12.937877 KEEP 0 0 0 43 1361 TT 1 1 0 - 9 60 330 0 0 20.150477 263 60 9540 376 ENST00000361648.2 0.033088 1 SPANXA2-OT1 619455 __UNKNOWN__ __UNKNOWN__ X 140714231 140714231 __UNKNOWN__ RNA SNP A A G rs2239834 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:140714231A>G ENST00000421554.1 + 0 572 RP1-171K16.5_ENST00000412163.1_lincRNA NR_037183.1 Q8N9U9 SPOT1_HUMAN SPANXA2 overlapping transcript 1 NA NA NA CCATTGCTACATTATCCCAAA 0.433 NA A||| 1222 0.323709 0.2625 0.1571 3775 , , NA 15115 0.3185 NA 0.165 False NA ,,, NA NA NA 2504 0.2853 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA AK093505 Xq27.2 2014-06-02 2014-06-02 2011-08-31 ENSG00000226574 ENSG00000277215 619455 Long non-coding RNAs, - 31683 non-coding RNA RNA, long non-coding chromosome X open reading frame 18, SPANXA2 overlapping transcript 1 (non-protein coding) CXorf18 NA Standard NR_037183 NR_037183 NA Approved FLJ36186 uc004fbm.1 Q8N9U9 OTTHUMG00000022566 ENST00000421554.1: chrX.hg19:g.140714231A>G NA hg19 0.02 13.269719 TACxTTA COVERED NOVEL SPANXA2-OT1-001 KNOWN basic processed_transcript NA processed_transcript OTTHUMT00000058601.2 3 7.953804 KEEP 0 1 36 39 1176 AA 1 1 0 + 11 60 379 0 0 21.51437 371 60 13684 527 ENST00000421554.1 0.028796 1 SPANXD 64648 __UNKNOWN__ __UNKNOWN__ X 140785714 140785714 __UNKNOWN__ Missense_Mutation SNP C C G rs5953618 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:140785714C>G ENST00000370515.3 - 2 535 c.202G>C c.(202-204)Gtg>Ctg p.V68L NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 Q9BXN6 SPNXD_HUMAN SPANX family, member D 68 NA V -> L (in dbSNP:rs5953618). cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) TGGTCATTCACCAGTTCCTCT 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 243 201 215 NA NA X NA 140785714 2202 4287 6489 SO:0001583 missense AJ457791 CCDS14675.1 Xq27.2 2014-06-19 ENSG00000196406 ENSG00000196406 64648 14332 protein-coding gene gene with protein product cancer/testis antigen family 11, member 4 300670, 300671 SPANX family, member E SPANXE NA Standard NM_032417 NA Approved CT11.4 Q9BXN6 OTTHUMG00000022563 ENST00000370515.3:c.202G>C chrX.hg19:g.140785714C>G ENSP00000359546:p.Val68Leu NA Q5JWI1 hg19 CCDS14675.1 0.02 6.734348 TCAxCAG COVERED . . . . . . . . . . N 0.016 -1.536097 0.00942 . . ENSG00000196406 ENST00000370515 T 0.07021 3.23 . . . . . . . . T 0.02888 0.0086 . . . 0.09310 N 1 B 0.02656 0.0 B 0.06405 0.002 T 0.46162 -0.9211 6 0.05833 T 0.94 . . . . rs5953618;rs17855378;rs17855767 68 Q9BXN6 SPNXD_HUMAN L 68 ENSP00000359546:V68L ENSP00000359546:V68L V - 1 0 SPANXD 140613380 0.017000 0.18338 0.016000 0.15963 0.015000 0.08874 0.064000 0.14437 0.068000 0.16574 0.068000 0.15388 GTG NOVEL SPANXD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058598.1 0 4.514716 KEEP 1 0 0 15 536 CC 0.99649 0.99649 0 - 7 37 271 0 0 17.440878 182 60 6774 246 ENST00000370515.3 0.037037 1 SPANXD 64648 __UNKNOWN__ __UNKNOWN__ X 140786824 140786824 __UNKNOWN__ 5'UTR SNP C C T rs375977723 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:140786824C>T ENST00000370515.3 - 0 72 NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 Q9BXN6 SPNXD_HUMAN SPANX family, member D NA NA cytoplasm (GO:0005737)|nucleus (GO:0005634) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) CCAAATGCTGCTGTTGTTTCA 0.567 NA t||| 1017 0.269404 0.1952 0.1138 3775 , , NA 8680 0.1925 NA 0.161 False NA ,,, NA NA NA 2504 0.3313 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant AJ457791 CCDS14675.1 Xq27.2 2014-06-19 ENSG00000196406 ENSG00000196406 64648 14332 protein-coding gene gene with protein product cancer/testis antigen family 11, member 4 300670, 300671 SPANX family, member E SPANXE NA Standard NM_032417 NA Approved CT11.4 Q9BXN6 OTTHUMG00000022563 ENST00000370515.3:c.-262G>A chrX.hg19:g.140786824C>T NA Q5JWI1 hg19 CCDS14675.1 0.02 2.070571 CTGxTGT UNCOVERED NOVEL SPANXD-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058598.1 0 2.407919 KEEP 22 0 0 8 290 CC 0 0 0 - 5 37 177 0 0 12.652517 54 60 2004 97 ENST00000370515.3 0.084746 0.986153 MAGEC1 9947 __UNKNOWN__ __UNKNOWN__ X 140993884 140993884 __UNKNOWN__ Missense_Mutation SNP C C T rs150761200 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:140993884C>T ENST00000285879.4 + 4 980 c.694C>T c.(694-696)Cct>Tct p.P232S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 232 NA breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGCCCAGTCTCCTCTCCAGAT 0.488 NA HNSCC(15;0.026) NA NA NA NA NA NA NA NA NA NA 0 C SER/PRO 65,3770 0,65,0,1567,571 101 97 99 694 NA 0.1 X dbSNP_134 99 97,6616 0,89,8,2339,1849 no missense MAGEC1 NM_005462.4 74 0,154,8,3906,2420 TT,TC,T,CC,C 1.445,1.6949,1.5358 benign 232/1143 140993884 162,10386 2203 4285 6488 SO:0001583 missense AF064589 CCDS35417.1 Xq26 2009-03-18 ENSG00000155495 ENSG00000155495 9947 6812 protein-coding gene gene with protein product cancer/testis antigen family 7, member 1 300223 NA 9485030, 9618514 Standard NM_005462 NM_005462 NA Approved MAGE-C1, CT7, MGC39366, CT7.1 uc004fbt.3 O60732 OTTHUMG00000022569 ENST00000285879.4:c.694C>T chrX.hg19:g.140993884C>T ENSP00000285879:p.Pro232Ser NA A0PK03|O75451|Q8TCV4 hg19 CCDS35417.1 0.02 12.874968 TCTxCTC COVERED 29 0.017480409885473176 5 0.01016260162601626 15 0.041666666666666664 7 0.012280701754385965 1 0.0013192612137203166 c 4.386 0.071164 0.08436 0.016949 0.01445 ENSG00000155495 ENST00000285879;ENST00000370510 T 0.02121 4.44 . . . . . . . . T 0.00356 0.0011 N 0.08118 0 0.20403 N 0.9999 B 0.15141 0.012 B 0.04013 0.001 T 0.48364 -0.9042 8 0.87932 D 0 . 2.6694 0.05063 0.0:0.5025:0.0:0.4974 . 232 O60732 MAGC1_HUMAN S 232;33 ENSP00000285879:P232S ENSP00000285879:P232S P + 1 0 MAGEC1 140821550 0.001000 0.12720 0.063000 0.19743 0.063000 0.16089 -0.462000 0.06704 0.054000 0.16065 0.054000 0.15206 CCT NOVEL MAGEC1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000058604.1 4 4.052228 KEEP 3 4 121 56 2000 CC 1 1 0 + 12 60 399 0 0 23.576537 299 60 11144 570 ENST00000285879.4 0.038585 1 SPANXN1 494118 __UNKNOWN__ __UNKNOWN__ X 144328540 144328540 __UNKNOWN__ 5'UTR SNP G G A rs41301303 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:144328540G>A ENST00000370493.3 + 0 193 NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 NA NA endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) CGAGGTGCATGTGAAGGAACT 0.408 NA A||| 1637 0.433642 0.1543 0.3516 3775 , , NA 14811 0.6081 NA 0.2078 False NA ,,, NA NA NA 2504 0.3753 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS35421.1 Xq27.3 2009-03-25 ENSG00000203923 494118 33174 protein-coding gene gene with protein product cancer/testis antigen family 11, member 6 300664 NA 14973187, 17012309 Standard NM_001009614 NM_001009614 NA Approved SPANX-N1, CT11.6 uc004fcb.2 Q5VSR9 ENST00000370493.3:c.-567G>A chrX.hg19:g.144328540G>A NA hg19 CCDS35421.1 0.02 14.667808 CATxTGA COVERED NOVEL SPANXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058631.2 0 2.442266 KEEP 32 1 31 19 648 GG 0.99986 0.99986 0 + 12 60 415 0 0 24.440106 347 60 13167 455 ENST00000370493.3 0.033426 1 SPANXN1 494118 __UNKNOWN__ __UNKNOWN__ X 144328634 144328634 __UNKNOWN__ 5'UTR SNP T T G rs41311670 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:144328634T>G ENST00000370493.3 + 0 287 NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 NA NA endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) GTGAGACATCTAAAATACTAA 0.443 NA T||| 1650 0.437086 0.1551 0.3473 3775 , , NA 14133 0.6032 NA 0.2078 False NA ,,, NA NA NA 2504 0.3957 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001623 5_prime_UTR_variant CCDS35421.1 Xq27.3 2009-03-25 ENSG00000203923 494118 33174 protein-coding gene gene with protein product cancer/testis antigen family 11, member 6 300664 NA 14973187, 17012309 Standard NM_001009614 NM_001009614 NA Approved SPANX-N1, CT11.6 uc004fcb.2 Q5VSR9 ENST00000370493.3:c.-473T>G chrX.hg19:g.144328634T>G NA hg19 CCDS35421.1 0.02 14.388936 ATCxAAA COVERED NOVEL SPANXN1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058631.2 11 2.477775 KEEP 5 2 68 32 1025 TT 0.999998 0.999998 0 + 14 60 496 0 0 30.472738 353 60 13016 501 ENST00000370493.3 0.038147 1 SLITRK2 84631 __UNKNOWN__ __UNKNOWN__ X 144905744 144905744 __UNKNOWN__ Missense_Mutation SNP T T C rs2295336 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:144905744T>C ENST00000370490.1 + 1 6056 c.1801T>C c.(1801-1803)Tcg>Ccg p.S601P SLITRK2_ENST00000434188.2_Missense_Mutation_p.S601P|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S601P|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S601P|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S601P Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 601 NA S -> P (in dbSNP:rs2295336). axonogenesis (GO:0007409) integral component of membrane (GO:0016021) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CACACCTCGGTCGCTTAGTGT 0.443 NA T||| 405 0.107285 0.0008 0.0922 3775 , , NA 13846 0.254 NA 0.001 False NA ,,, NA NA NA 2504 0.0849 NA NA NA NA 0 T PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER,PRO/SER 20,3815 0,14,6,1618,565 101 72 82 1801,1801,1801,1801,1801,1801,1801,1801 5.5 0.7 X dbSNP_100 82 20,6708 0,12,8,2416,1864 yes missense,missense,missense,missense,missense,missense,missense,missense SLITRK2 NM_001144003.2,NM_001144004.2,NM_001144005.2,NM_001144006.2,NM_001144008.2,NM_001144009.2,NM_001144010.2,NM_032539.4 74,74,74,74,74,74,74,74 0,26,14,4034,2429 CC,CT,C,TT,T 0.2973,0.5215,0.3787 benign,benign,benign,benign,benign,benign,benign,benign 601/846,601/846,601/846,601/846,601/846,601/846,601/846,601/846 144905744 40,10523 2203 4300 6503 SO:0001583 missense Y19205 CCDS14680.1 Xq27.3 2008-02-05 2004-03-11 ENSG00000185985 ENSG00000185985 84631 13449 protein-coding gene gene with protein product 300561 slit-like 1 (Drosophila) SLITL1 NA 11347906, 14557068 Standard NM_032539 NM_032539 NA Approved KIAA1854, CXorf2 uc011mwr.2 Q9H156 OTTHUMG00000022595 ENST00000370490.1:c.1801T>C chrX.hg19:g.144905744T>C ENSP00000359521:p.Ser601Pro NA A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3 hg19 CCDS14680.1 0.02 14.894279 CGGxCGC COVERED 174 0.10488245931283906 0 0.0 20 0.05917159763313609 92 0.19491525423728814 0 0.0 T 9.259 1.042694 0.19748 0.005215 0.002973 ENSG00000185985 ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560 T;T;T;T;T;T 0.52754 0.69;0.65;0.65;0.65;0.65;0.65 5.51 5.51 0.81932 . 0.397304 0.24740 N 0.035982 T 0.00039 0.0001 N 0.17594 0.5 0.58432 P 1.0000000000287557E-6 B 0.02656 0.0 B 0.06405 0.002 T 0.10520 -1.0626 9 0.26408 T 0.33 -5.2045 7.2726 0.26264 0.0:0.0981:0.0:0.9019 rs2295336;rs56529893;rs2295336 601 Q9H156 SLIK2_HUMAN P 601 ENSP00000334374:S601P;ENSP00000411681:S601P;ENSP00000359521:S601P;ENSP00000397015:S601P;ENSP00000407347:S601P;ENSP00000412010:S601P ENSP00000334374:S601P S + 1 0 SLITRK2 144713436 0.004000 0.15560 0.705000 0.30386 0.833000 0.47200 1.483000 0.35497 1.843000 0.53566 0.486000 0.48141 TCG NOVEL SLITRK2-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058633.1 2 8.724983 KEEP 0 0 0 29 883 TT 0.999997 0.999997 0 + 12 60 464 0 0 29.682589 322 60 11265 422 ENST00000370490.1 0.035928 1 IDS 3423 __UNKNOWN__ __UNKNOWN__ X 148563067 148563067 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:148563067A>G ENST00000340855.6 - 0 3072 NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase NA NA carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) lysosomal lumen (GO:0043202) iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872) NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGGACAGTAGATATTTAATAT 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant M58342 CCDS14685.1, CCDS14686.1 Xq27.3-q28 2012-10-02 2008-08-01 ENSG00000010404 ENSG00000010404 3423 3.1.6.13 5389 protein-coding gene gene with protein product Hunter syndrome 300823 SIDS NA Standard NM_006123 NA Approved uc011mxe.2 P22304 OTTHUMG00000022615 ENST00000340855.6:c.*1210T>C chrX.hg19:g.148563067A>G NA D3DWT4|Q14604|Q9BRM3 hg19 CCDS14685.1 0.02 3.977314 TAGxTAT COVERED NOVEL IDS-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058677.3 2 6.31951 KEEP 0 0 0 21 677 AA 0.999869 0.999869 0 - 5 60 187 0 0 11.598427 143 60 5248 199 ENST00000340855.6 0.033784 1 MAMLD1 10046 __UNKNOWN__ __UNKNOWN__ X 149639544 149639544 __UNKNOWN__ Missense_Mutation SNP C C T rs146443503 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:149639544C>T ENST00000432680.2 + 3 1799 c.1624C>T c.(1624-1626)Cct>Tct p.P542S MAMLD1_ENST00000455522.2_Missense_Mutation_p.P48S|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P567S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P542S|MAMLD1_ENST00000370401.2_Missense_Mutation_p.P567S NM_001177465.2 NP_001170936.1 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 567 NA male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) CTCTAGGCAGCCTTCCCTGCT 0.607 NA C||| 18 0.00476821 0.0 0.0 3775 , , NA 12991 0.0179 NA 0.0 False NA ,,, NA NA NA 2504 0.0 NA NA NA NA 0 105 94 98 NA NA X NA 149639544 2203 4300 6503 SO:0001583 missense U46023 CCDS14693.2, CCDS55525.1, CCDS55526.1 Xq28 2008-02-05 2008-01-03 2008-01-03 ENSG00000013619 ENSG00000013619 10046 2568 protein-coding gene gene with protein product 300120 chromosome X open reading frame 6 CXorf6 NA 9169146, 17086185, 18162467 Standard NM_005491 NM_001177465 NA Approved CG1, F18 uc011mxu.2 Q13495 OTTHUMG00000024157 ENST00000432680.2:c.1624C>T chrX.hg19:g.149639544C>T ENSP00000414517:p.Pro542Ser NA B2RCQ4|B4DG93|B9EGA5 hg19 CCDS55526.1 0.02 17.35037 CAGxCTT COVERED 7 0.004219409282700422 0 0.0 0 0.0 8 0.013986013986013986 0 0.0 C 10.52 1.373878 0.24857 . . ENSG00000013619 ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522 T;T;T;T;T 0.66995 -0.24;-0.24;-0.24;-0.24;-0.24 5.32 1.37 0.22104 . 0.550760 0.17680 N 0.165671 T 0.40522 0.1120 L 0.43152 1.355 0.23559 N 0.997417 B;B;B 0.33940 0.433;0.077;0.433 B;B;B 0.30029 0.068;0.066;0.11 T 0.23940 -1.0174 10 0.13470 T 0.59 -2.1196 6.3218 0.21223 0.0:0.5642:0.277:0.1588 . 542;542;567 Q13495-4;Q13495-3;Q13495 .;.;MAMD1_HUMAN S 567;542;567;542;48 ENSP00000359428:P567S;ENSP00000414517:P542S;ENSP00000262858:P567S;ENSP00000397438:P542S;ENSP00000389106:P48S ENSP00000262858:P567S P + 1 0 MAMLD1 149390202 0.673000 0.27539 0.643000 0.29450 0.930000 0.56654 0.314000 0.19432 -0.141000 0.11374 0.600000 0.82982 CCT NOVEL MAMLD1-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000403341.1 2 37.55727 KEEP 0 0 0 125 4384 CC 1 1 0 + 13 60 454 0 0 25.906931 449 60 16396 735 ENST00000432680.2 0.028139 1 CD99L2 83692 __UNKNOWN__ __UNKNOWN__ X 149936103 149936103 __UNKNOWN__ 3'UTR SNP C C A rs9866 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:149936103C>A ENST00000370377.3 - 0 2310 CD99L2_ENST00000355149.3_3'UTR|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_3'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 NA NA cell adhesion (GO:0007155) focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGAGTTGGCTCATCCCACTCA 0.522 NA C||| 947 0.250861 0.1225 0.2925 3775 , , NA 14199 0.1458 NA 0.1889 False NA ,,, NA NA NA 2504 0.2505 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant BC030536 CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1 Xq28 2007-12-04 2006-03-28 2003-02-14 ENSG00000102181 ENSG00000102181 83692 18237 protein-coding gene gene with protein product 300846 MIC2 like 1, CD99 antigen-like 2 MIC2L1 NA Standard NM_031462 NM_001184808 NA Approved CD99B uc004fek.3 Q8TCZ2 OTTHUMG00000024247 ENST00000370377.3:c.*1404G>T chrX.hg19:g.149936103C>A NA A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9 hg19 CCDS35427.1 0.02 8.302115 GCTxATC COVERED NOVEL CD99L2-001 KNOWN basic|CCDS protein_coding NA protein_coding OTTHUMT00000061199.1 2 14.446103 KEEP 0 0 0 48 1688 CC 1 1 0 - 8 60 272 0 0 16.265617 203 60 7732 323 ENST00000370377.3 0.037915 1 HMGB3 3149 __UNKNOWN__ __UNKNOWN__ X 150158080 150158080 __UNKNOWN__ 3'UTR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:150158080A>G ENST00000325307.7 + 0 2392 NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 NA NA DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275) chromosome (GO:0005694)|nucleus (GO:0005634) DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) AAGTGGTGACACTAAATACCA 0.443 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF274572 CCDS35428.1 Xq28 2011-07-01 2011-04-05 2002-08-16 ENSG00000029993 ENSG00000029993 3149 High-mobility group / Canonical 5004 protein-coding gene gene with protein product non-histone chromosomal protein 300193 high-mobility group (nonhistone chromosomal) protein 4, high-mobility group box 3 HMG4 NA 9598312 Standard NM_005342 XM_005274665 NA Approved HMG2A, MGC90319 uc004fep.3 O15347 OTTHUMG00000024162 ENST00000325307.7:c.*1693A>G chrX.hg19:g.150158080A>G NA O95556|Q6NS40 hg19 CCDS35428.1 0.02 4.237456 GACxCTA COVERED NOVEL HMGB3-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060867.1 0 2.708483 KEEP 0 0 0 9 292 AA 0.99254 0.992531 0 + 6 60 212 0 0 14.028859 101 60 3588 135 ENST00000325307.7 0.056075 0.999991 PASD1 139135 __UNKNOWN__ __UNKNOWN__ X 150840916 150840916 __UNKNOWN__ Silent SNP C C T rs41299110 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:150840916C>T ENST00000370357.4 + 14 1944 c.1699C>T c.(1699-1701)Ctg>Ttg p.L567L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 567 NA nucleus (GO:0005634) signal transducer activity (GO:0004871) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) gaagcagcagctgcaagagca 0.547 NA T||| 732 0.193907 0.1074 0.2378 3775 , , NA 13298 0.0536 NA 0.1928 False NA ,,, NA NA NA 2504 0.181 NA NA NA NA 0 T 526,3309 34,381,77,1217,494 104 79 87 1699 -1.9 0 X dbSNP_127 87 1626,5102 151,883,441,1394,1431 no coding-synonymous PASD1 NM_173493.2 185,1264,518,2611,1925 TT,TC,T,CC,C 24.1677,13.7158,20.373 567/774 150840916 2152,8411 2203 4300 6503 SO:0001819 synonymous_variant AY270020 CCDS35431.1 Xq28 2009-08-06 ENSG00000166049 ENSG00000166049 139135 20686 protein-coding gene gene with protein product cancer/testis antigen 63 NA 15122589, 15162151 Standard NM_173493 NM_173493 NA Approved CT63 uc004fev.4 Q8IV76 OTTHUMG00000024169 ENST00000370357.4:c.1699C>T chrX.hg19:g.150840916C>T NA Q3MNE0|Q69HD7|Q8N7X9 hg19 CCDS35431.1 0.02 5.790975 CAGxTGC COVERED NOVEL PASD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060879.2 0 2.407744 KEEP 0 0 0 8 276 CC 0.99257 0.99257 0 + 7 60 218 0 0 12.774809 149 60 5267 190 ENST00000370357.4 0.044872 1 PASD1 139135 __UNKNOWN__ __UNKNOWN__ X 150844967 150844967 __UNKNOWN__ 3'UTR SNP T T A rs41311680 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:150844967T>A ENST00000370357.4 + 0 2919 NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 NA NA nucleus (GO:0005634) signal transducer activity (GO:0004871) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) ACATAAAGAATAAAGAAAAAA 0.423 NA A||| 713 0.188874 0.0923 0.2349 3775 , , NA 13366 0.0575 NA 0.1938 False NA ,,, NA NA NA 2504 0.1789 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AY270020 CCDS35431.1 Xq28 2009-08-06 ENSG00000166049 ENSG00000166049 139135 20686 protein-coding gene gene with protein product cancer/testis antigen 63 NA 15122589, 15162151 Standard NM_173493 NM_173493 NA Approved CT63 uc004fev.4 Q8IV76 OTTHUMG00000024169 ENST00000370357.4:c.*352T>A chrX.hg19:g.150844967T>A NA Q3MNE0|Q69HD7|Q8N7X9 hg19 CCDS35431.1 0.02 6.281853 GAAxAAA COVERED NOVEL PASD1-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060879.2 0 5.415065 KEEP 0 0 0 18 535 TT 0.999859 0.999859 0 + 7 60 257 0 1 16.408 161 60 5750 222 ENST00000370357.4 0.041667 1 PRRG3 79057 __UNKNOWN__ __UNKNOWN__ X 150867321 150867321 __UNKNOWN__ Intron SNP C C T rs5925008 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:150867321C>T ENST00000370353.3 + 2 397 PRRG3_ENST00000370354.1_Intron|PRRG3_ENST00000538575.1_Intron Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) NA NA extracellular region (GO:0005576)|integral component of membrane (GO:0016021) calcium ion binding (GO:0005509) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) TGGGCAGAGCCGTGGAGGGCC 0.557 NA C||| 652 0.172715 0.0151 0.1167 3775 , , NA 13443 0.1369 NA 0.3091 False NA ,,, NA NA NA 2504 0.1043 NA NA NA NA 0 C 204,3631 8,161,27,1463,544 81 74 76 -1.8 0 X dbSNP_114 76 2672,4056 370,1195,737,863,1135 no intron PRRG3 NM_024082.3 378,1356,764,2326,1679 TT,TC,T,CC,C 39.7146,5.3194,27.2271 150867321 2876,7687 2203 4300 6503 SO:0001627 intron_variant AK074574 CCDS14699.1 Xq28 2008-02-05 ENSG00000130032 ENSG00000130032 79057 30798 protein-coding gene gene with protein product 300685 NA 11171957 Standard NM_024082 NM_024082 NA Approved TMG3 uc022cgt.1 Q9BZD7 OTTHUMG00000024170 ENST00000370353.3:c.7+28C>T chrX.hg19:g.150867321C>T NA A1A523|A1A575|Q8N2N6 hg19 CCDS14699.1 0.02 12.972228 AGCxGTG COVERED NOVEL PRRG3-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060880.1 1 14.143676 KEEP 0 0 0 47 1565 CC 1 1 0 + 13 60 471 1 0 29.621729 312 60 10436 473 ENST00000370353.3 0.04 1 MAGEA6 4105 __UNKNOWN__ __UNKNOWN__ X 151870574 151870574 __UNKNOWN__ 3'UTR SNP T T C rs377345501 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:151870574T>C ENST00000329342.5 + 0 1489 NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 NA NA breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTGTTTTTTATTCAGATTGGG 0.338 NA c||| 165 0.0437086 0.0371 0.0159 3775 , , NA 14159 0.0179 NA 0.0686 False NA ,,, NA NA NA 2504 0.0184 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS76050.1 Xq28 2009-03-13 ENSG00000197172 ENSG00000197172 4105 6804 protein-coding gene gene with protein product MAGE-6 antigen, melanoma-associated antigen 6, melanoma antigen family A 6, cancer/testis antigen family 1, member 6 300176 MAGE6 NA 8575766 Standard NM_005363 NM_005363 NA Approved CT1.6 uc004ffq.1 P43360 OTTHUMG00000022642 ENST00000329342.5:c.*319T>C chrX.hg19:g.151870574T>C NA A8IF93|Q6NW44 hg19 CCDS14708.1 0.02 13.337192 TTAxTCA COVERED NOVEL MAGEA6-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058747.2 2 3.912124 KEEP 17 0 0 13 427 TT 0.994391 0.994391 0 + 10 39 372 0 0 22.378501 331 60 11973 395 ENST00000329342.5 0.029326 1 MAGEA3 4102 __UNKNOWN__ __UNKNOWN__ X 151934848 151934848 __UNKNOWN__ 3'UTR SNP A A T rs147506303 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:151934848A>T ENST00000393902.3 - 0 1886 MAGEA3_ENST00000370278.3_3'UTR P43357 MAGA3_HUMAN melanoma antigen family A, 3 NA NA endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 15 Acute lymphoblastic leukemia(192;6.56e-05) AAATACTTTTACCACTGCTAT 0.308 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant CCDS76045.1 Xq28 2009-03-13 ENSG00000221867 ENSG00000221867 4102 6801 protein-coding gene gene with protein product melanoma-associated antigen 3, antigen MZ2-D, MAGE-3 antigen, cancer/testis antigen family 1, member 3 300174 MAGE3 NA 1840703, 8575766 Standard NM_005362 NM_005362 NA Approved HYPD, HIP8, MGC14613, CT1.3 uc004fgp.3 P43357 OTTHUMG00000022640 ENST00000393902.3:c.*374T>A chrX.hg19:g.151934848A>T NA Q6FHI6 hg19 CCDS14715.1 0.02 41.712819 TTTxCCA COVERED NOVEL MAGEA3-201 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000058744.1 4 2.342342 KEEP 12 4 129 53 1620 AA 1 1 0 - 126 54 4480 0 0 349.408671 782 60 27303 1084 ENST00000393902.3 0.138767 1 ZNF185 7739 __UNKNOWN__ __UNKNOWN__ X 152138068 152138068 __UNKNOWN__ Intron SNP C C T rs5925268 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152138068C>T ENST00000370270.2 + 22 2067 ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000539731.1_Intron|ZNF185_ENST00000454925.1_Intron|ZNF185_ENST00000370268.4_Intron|ZNF185_ENST00000449285.2_Intron|ZNF185_ENST00000535861.1_Intron O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) TAGGCGGTAACTCCTGATCAC 0.453 NA c||| 909 0.240795 0.0719 0.2493 3775 , , NA 17152 0.1994 NA 0.17 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 ,,,,,,, 401,3071 15,314,57,1123,511 58 51 53 ,,,,,,, 0.7 0 X dbSNP_114 53 1807,4723 177,933,520,1259,1272 no intron,intron,intron,intron,intron,intron,intron,intron ZNF185 NM_001178106.1,NM_001178107.1,NM_001178108.1,NM_001178109.1,NM_001178110.1,NM_001178113.1,NM_001178115.1,NM_007150.3 ,,,,,,, 192,1247,577,2382,1783 TT,TC,T,CC,C 27.6723,11.5495,22.0756 ,,,,,,, ,,,,,,, 152138068 2208,7794 2020 4161 6181 SO:0001627 intron_variant AK056517 CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1 Xq28 2012-08-08 ENSG00000147394 ENSG00000147394 7739 Zinc fingers, C2H2-type 12976 protein-coding gene gene with protein product 300381 NA 9268636 Standard NM_007150 NM_001178106 NA Approved uc011myg.2 O15231 OTTHUMG00000024187 ENST00000370270.2:c.2067+40C>T chrX.hg19:g.152138068C>T NA A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2 hg19 CCDS55529.1 0.02 12.102337 TAAxTCC COVERED NOVEL ZNF185-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472688.1 0 13.2439 KEEP 0 0 0 44 1627 CC 1 1 0 + 11 60 392 0 0 23.804463 300 60 11384 445 ENST00000370270.2 0.03537 1 ZNF185 7739 __UNKNOWN__ __UNKNOWN__ X 152138078 152138078 __UNKNOWN__ Intron SNP C C T rs2071253 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152138078C>T ENST00000370270.2 + 22 2067 ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000539731.1_Intron|ZNF185_ENST00000454925.1_Intron|ZNF185_ENST00000370268.4_Intron|ZNF185_ENST00000449285.2_Intron|ZNF185_ENST00000535861.1_Intron O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) NA NA actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTGATCACGTGCTGCTAA 0.463 NA c||| 889 0.235497 0.0582 0.2464 3775 , , NA 17310 0.1994 NA 0.17 False NA ,,, NA NA NA 2504 0.2751 NA NA NA NA 0 ,,,,,,, 212,1854 12,165,23,738,213 79 75 77 ,,,,,,, -0.4 0 X dbSNP_96 77 975,2457 105,488,277,656,657 no intron,intron,intron,intron,intron,intron,intron,intron ZNF185 NM_001178106.1,NM_001178107.1,NM_001178108.1,NM_001178109.1,NM_001178110.1,NM_001178113.1,NM_001178115.1,NM_007150.3 ,,,,,,, 117,653,300,1394,870 TT,TC,T,CC,C 28.4091,10.2614,21.5897 ,,,,,,, ,,,,,,, 152138078 1187,4311 1151 2183 3334 SO:0001627 intron_variant AK056517 CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1 Xq28 2012-08-08 ENSG00000147394 ENSG00000147394 7739 Zinc fingers, C2H2-type 12976 protein-coding gene gene with protein product 300381 NA 9268636 Standard NM_007150 NM_001178106 NA Approved uc011myg.2 O15231 OTTHUMG00000024187 ENST00000370270.2:c.2067+50C>T chrX.hg19:g.152138078C>T NA A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2 hg19 CCDS55529.1 0.02 10.925278 TCAxGTG COVERED NOVEL ZNF185-010 KNOWN basic|appris_candidate_longest|CCDS protein_coding NA protein_coding OTTHUMT00000472688.1 0 13.241626 KEEP 0 0 0 44 1498 CC 1 1 0 + 10 60 378 0 0 23.568297 288 60 9925 412 ENST00000370270.2 0.033557 1 PNMA3 29944 __UNKNOWN__ __UNKNOWN__ X 152228332 152228332 __UNKNOWN__ 3'UTR SNP A A G rs2301182 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152228332A>G ENST00000370265.4 + 0 3135 PNMA3_ENST00000447306.1_3'UTR NM_001282535.1 NP_001269464.1 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 NA NA positive regulation of apoptotic process (GO:0043065) nucleus (GO:0005634) nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) GGTGACCGTGACTGTGGGAGG 0.627 NA A||| 955 0.25298 0.0234 0.3012 3775 , , NA 11667 0.2272 NA 0.1968 False NA ,,, NA NA NA 2504 0.2945 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AF083116 CCDS35435.2, CCDS65344.1 Xq28 2012-02-09 2012-02-09 ENSG00000183837 ENSG00000183837 29944 Paraneoplastic Ma antigens 18742 protein-coding gene gene with protein product paraneoplastic cancer-testis-brain antigen 300675 paraneoplastic antigen MA3 NA 11558790 Standard NM_013364 NM_013364 NA Approved MA5, MA3, MGC132756, MGC132758 uc004fhc.2 Q9UL41 OTTHUMG00000024195 ENST00000370265.4:c.*1431A>G chrX.hg19:g.152228332A>G NA D3DWT7|Q9H0A4 hg19 0.02 8.249413 GTGxCTG COVERED NOVEL PNMA3-001 PUTATIVE basic protein_coding NA protein_coding OTTHUMT00000060944.2 0 12.333937 KEEP 0 0 0 41 1253 AA 1 1 0 + 9 60 325 0 0 20.139495 231 60 7991 332 ENST00000370265.4 0.0375 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 152583090 152583090 __UNKNOWN__ IGR SNP G G C rs2001015 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152583090G>C NA NA MAGEA1 (96975 upstream) : ZNF275 (16522 downstream) NA NA NA CCAACCCCATGCCCAGCAAAC 0.582 NA C||| 1984 0.525563 0.5666 0.3156 3775 , , NA 11963 0.4643 NA 0.161 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.152583090G>C NA hg19 0.02 5.16581 CATxCCC COVERED NOVEL 0 2 3.310912 KEEP 0 0 0 11 400 GG 0.993072 0.993069 0 5 60 201 0 0 13.555739 110 60 4106 146 0.043478 0.999997 Unknown 0 __UNKNOWN__ __UNKNOWN__ X 152583097 152583097 __UNKNOWN__ IGR SNP A A C rs2001016 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152583097A>C NA NA MAGEA1 (96982 upstream) : ZNF275 (16515 downstream) NA NA NA CATGCCCAGCAAACCTCATCC 0.582 NA A||| 1842 0.487947 0.4644 0.3055 3775 , , NA 12127 0.4653 NA 0.16 False NA ,,, NA NA NA 2504 0.3947 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrX.hg19:g.152583097A>C NA hg19 0.02 5.096215 AGCxAAC COVERED NOVEL 0 1 4.801906 KEEP 0 0 0 16 479 AA 0.997832 0.997831 0 6 60 237 0 0 16.155482 117 60 4209 163 0.04878 0.999999 TREX2 11219 __UNKNOWN__ __UNKNOWN__ X 152720579 152720579 __UNKNOWN__ Intron SNP G G A rs3752409 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152720579G>A ENST00000330912.2 - 9 960 HAUS7_ENST00000370211.4_Intron|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_Intron|TREX2_ENST00000338525.2_Intron|HAUS7_ENST00000370212.3_Intron|TREX2_ENST00000370232.1_Intron|HAUS7_ENST00000421080.2_Intron Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 NA NA DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281) nucleus (GO:0005634) 3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803) endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTCTGAGCAGGCTCATGGGCA 0.502 NA Editing and processing nucleases G||| 585 0.154967 0.0068 0.121 3775 , , NA 15329 0.2401 NA 0.0666 False NA ,,, NA NA NA 2504 0.1871 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001627 intron_variant AF151107 CCDS35437.1 Xq28 2012-05-08 ENSG00000183479 ENSG00000183479 11219 12270 protein-coding gene gene with protein product 300370 NA 10391904 Standard NM_080701 NM_080701 NA Approved uc011myp.2 Q9BQ50 OTTHUMG00000159319 ENST00000330912.2:c.591-68C>T chrX.hg19:g.152720579G>A NA Q45F08|Q9UN77 hg19 CCDS35437.1 0.02 8.798746 CAGxCTC COVERED NOVEL TREX2-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060962.2 1 9.029796 KEEP 0 0 0 30 1093 GG 0.999997 0.999997 0 - 12 60 434 0 0 29.42388 188 60 6990 279 ENST00000330912.2 0.06 1 BGN 633 __UNKNOWN__ __UNKNOWN__ X 152771509 152771509 __UNKNOWN__ Silent SNP C C T rs1126499 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152771509C>T ENST00000331595.4 + 4 726 c.540C>T c.(538-540)agC>agT p.S180S BGN_ENST00000480756.1_3'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 180 NA blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133) extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539) breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGTGTTCAGCGGGCTCCGGA 0.607 NA C||| 1266 0.335364 0.0726 0.2853 3775 , , NA 11034 0.3016 NA 0.3767 False NA ,,, NA NA NA 2504 0.2955 NA NA NA NA 0 C 628,3207 40,453,95,1139,476 50 46 47 540 -9.4 0.5 X dbSNP_86 47 3135,3593 508,1207,912,713,960 no coding-synonymous BGN NM_001711.4 548,1660,1007,1852,1436 TT,TC,T,CC,C 46.5963,16.3755,35.6243 180/369 152771509 3763,6800 2203 4300 6503 SO:0001819 synonymous_variant AK092954 CCDS14721.1 Xq28 2008-02-05 ENSG00000182492 ENSG00000182492 633 Proteoglycans / Extracellular Matrix : Small leucine-rich repeats 1044 protein-coding gene gene with protein product biglycan proteoglycan 301870 NA 1612609 Standard NM_001711 NM_001711 NA Approved DSPG1, SLRR1A uc004fhr.2 P21810 OTTHUMG00000024205 ENST00000331595.4:c.540C>T chrX.hg19:g.152771509C>T NA D3DWU3|P13247 hg19 CCDS14721.1 0.02 12.254717 CAGxGGG COVERED NOVEL BGN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060981.1 0 18.358026 KEEP 0 0 0 61 2099 CC 1 1 0 + 9 60 323 0 0 18.998945 295 60 10251 456 ENST00000331595.4 0.029605 1 BGN 633 __UNKNOWN__ __UNKNOWN__ X 152774423 152774423 __UNKNOWN__ 3'UTR SNP C C A rs11538656 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152774423C>A ENST00000331595.4 + 0 1813 BGN_ENST00000480756.1_3'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan NA NA blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281) cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133) extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539) breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGTCCCTCCCAGACCCCTGC 0.577 NA c||| 729 0.193113 0.0401 0.1427 3775 , , NA 11417 0.0575 NA 0.3549 False NA ,,, NA NA NA 2504 0.1656 NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001624 3_prime_UTR_variant AK092954 CCDS14721.1 Xq28 2008-02-05 ENSG00000182492 ENSG00000182492 633 Proteoglycans / Extracellular Matrix : Small leucine-rich repeats 1044 protein-coding gene gene with protein product biglycan proteoglycan 301870 NA 1612609 Standard NM_001711 NM_001711 NA Approved DSPG1, SLRR1A uc004fhr.2 P21810 OTTHUMG00000024205 ENST00000331595.4:c.*520C>A chrX.hg19:g.152774423C>A NA D3DWU3|P13247 hg19 CCDS14721.1 0.02 5.889038 TCCxAGA COVERED NOVEL BGN-001 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060981.1 0 10.533734 KEEP 0 0 0 35 1232 CC 0.999999 0.999999 0 + 7 60 250 0 0 15.312135 184 60 6896 281 ENST00000331595.4 0.036649 1 ATP2B3 492 __UNKNOWN__ __UNKNOWN__ X 152823728 152823728 __UNKNOWN__ Silent SNP G G C rs2269415 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrX:152823728G>C ENST00000349466.2 + 16 2918 c.2592G>C c.(2590-2592)gtG>gtC p.V864V ATP2B3_ENST00000263519.4_Silent_p.V864V|ATP2B3_ENST00000370186.1_Silent_p.V850V|ATP2B3_ENST00000359149.3_Silent_p.V864V|ATP2B3_ENST00000393842.1_Silent_p.V850V|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.V850V Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 864 NA blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810) Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982) ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGTGGCTGTGATCGTGGCCT 0.572 NA G||| 1789 0.473907 0.0719 0.4914 3775 , , NA 12276 0.4841 NA 0.3867 False NA ,,, NA NA NA 2504 0.4867 NA NA NA NA 0 G , 555,3280 39,406,71,1187,500 209 144 166 2592,2592 4.8 1 X dbSNP_100 166 3558,3170 708,1174,968,546,904 no coding-synonymous,coding-synonymous ATP2B3 NM_001001344.2,NM_021949.3 , 747,1580,1039,1733,1404 CC,CG,C,GG,G 47.1165,14.472,38.9378 , 864/1221,864/1174 152823728 4113,6450 2203 4300 6503 SO:0001819 synonymous_variant U60414 CCDS14722.1, CCDS35440.1 Xq28 2014-07-18 ENSG00000067842 ENSG00000067842 492 3.6.3.8 ATPases / P-type 816 protein-coding gene gene with protein product plasma membrane calcium-transporting ATPase 3, cilia and flagella associated protein 39 300014 spinocerebellar ataxia, X-linked 1, cerebellar ataxia 2 (X-linked) SCAX1, CLA2 NA 8187550, 22912398 Standard NM_021949 NM_021949 NA Approved PMCA3, CFAP39 uc004fht.1 Q16720 OTTHUMG00000024202 ENST00000349466.2:c.2592G>C chrX.hg19:g.152823728G>C NA B7WNR8|B7WNY5|Q12995|Q16858 hg19 CCDS35440.1 0.02 9.420397 TGTxATC COVERED NOVEL ATP2B3-002 KNOWN basic|appris_principal|CCDS protein_coding NA protein_coding OTTHUMT00000060957.1 1 7.82508 KEEP 0 0 0 26 897 GG 0.999957 0.999957 0 + 10 60 366 0 0 23.716279 210 60 7946 283 ENST00000349466.2 0.045455 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10008432 10008432 __UNKNOWN__ IGR SNP G G C rs77384733 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10008432G>C NA NA RNA5SP519 (77830 upstream) : AC010970.1 (25548 downstream) NA NA NA ccttccctctgttcttccttc 0.537 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10008432G>C NA hg19 0.02 -0.289501 TCTxTTC COVERED NOVEL 0 5 3.310932 KEEP 1 0 0 11 400 GG 0.993072 0.755616 0 2 60 75 0 0 6.5009 6 60 201 54 0.25 0.760887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011033 10011033 __UNKNOWN__ IGR SNP G G T rs111325982 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10011033G>T NA NA RNA5SP519 (80431 upstream) : AC010970.1 (22947 downstream) NA NA NA AAATGTAAAGGGTCCATATAA 0.254 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011033G>T NA hg19 0.02 20.851697 AAGxGTC COVERED NOVEL 0 32 2.482342 KEEP 3 5 156 63 2210 GG 1 1 0 26 60 897 0 0 60.746021 361 60 13048 718 0.067183 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011052 10011052 __UNKNOWN__ IGR SNP A A G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10011052A>G NA NA RNA5SP519 (80450 upstream) : AC010970.1 (22928 downstream) NA NA NA AAAGAGTTGTATTAAGTACAT 0.264 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011052A>G NA hg19 0.02 23.130172 TGTxTTA COVERED NOVEL 0 35 4.557575 KEEP 2 4 149 67 2135 AA 1 1 0 17 60 641 0 0 42.75785 330 60 12104 810 0.048991 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011868 10011868 __UNKNOWN__ IGR SNP T T C LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10011868T>C NA NA RNA5SP519 (81266 upstream) : AC010970.1 (22112 downstream) NA NA NA GTCTTGAAAATGTAGCATTTG 0.279 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011868T>C NA hg19 0.02 19.518431 AAAxGTA COVERED NOVEL 0 6 16.988173 KEEP 56 1 36 69 2228 TT 1 1 0 17 49 622 0 0 38.885383 434 58 16301 789 0.037694 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011878 10011878 __UNKNOWN__ IGR SNP G G A rs77764502 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10011878G>A NA NA RNA5SP519 (81276 upstream) : AC010970.1 (22102 downstream) NA NA NA TGTAGCATTTGTTAGGAATTA 0.264 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011878G>A NA hg19 0.02 21.141658 TTTxTTA COVERED NOVEL 0 6 5.55883 KEEP 53 4 127 63 2278 GG 1 1 0 59 49 2152 0 0 167.930864 383 60 14822 793 0.133484 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011923 10011923 __UNKNOWN__ IGR SNP T T G rs111738588 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10011923T>G NA NA RNA5SP519 (81321 upstream) : AC010970.1 (22057 downstream) NA NA NA CAAATTATAGTGGAAAAACTA 0.254 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011923T>G NA hg19 0.02 18.653009 TAGxGGA COVERED NOVEL 0 4 3.614665 KEEP 4 3 100 47 1466 TT 1 1 0 38 60 1349 0 0 98.813165 355 60 13032 604 0.096692 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10011960 10011960 __UNKNOWN__ IGR SNP T T C rs75651145 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10011960T>C NA NA RNA5SP519 (81358 upstream) : AC010970.1 (22020 downstream) NA NA NA GTAACATAAATGATGTATTGA 0.269 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10011960T>C NA hg19 0.02 13.824876 AAAxGAT COVERED NOVEL 0 4 4.144861 KEEP 0 1 35 26 791 TT 0.999988 0.999988 0 24 60 788 0 0 53.525073 288 60 10492 405 0.076923 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10012026 10012026 __UNKNOWN__ IGR SNP G G T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10012026G>T NA NA RNA5SP519 (81424 upstream) : AC010970.1 (21954 downstream) NA NA NA TTGGAAAATTGTTGTTTCACC 0.299 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10012026G>T NA hg19 0.02 1.812715 ATTxTTG COVERED NOVEL 0 0 3.009835 KEEP 0 0 0 10 355 GG 0.992708 0.991583 0 6 60 214 0 0 15.748148 55 60 2011 92 0.098361 0.998867 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 10019420 10019420 __UNKNOWN__ IGR SNP A A G rs372926596 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:10019420A>G NA NA RNA5SP519 (88818 upstream) : AC010970.1 (14560 downstream) NA NA NA gtatgtttgaacaagaaatga 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.10019420A>G NA hg19 0.02 7.21197 TGAxCAA COVERED NOVEL 0 71 6.921019 KEEP 46 0 0 23 734 AA 0.999863 0.999863 0 4 29 156 0 0 15.849833 2 52 72 259 0.666667 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13141041 13141041 __UNKNOWN__ IGR SNP T T A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13141041T>A NA NA None (None upstream) : AC134878.2 (199317 downstream) NA NA NA tccattccattccattccatt 0.413 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13141041T>A NA hg19 0.02 1.996966 CATxCCA COVERED NOVEL 0 19 3.943316 KEEP 34 1 25 22 664 TT 0.99649 0.976088 0 3 40 98 0 1 8.300887 9 40 316 140 0.25 0.979526 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13141153 13141153 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13141153C>T NA NA None (None upstream) : AC134878.2 (199205 downstream) NA NA NA cattccattccattccattcc 0.428 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13141153C>T NA hg19 0.02 -0.280729 TTCxATT COVERED NOVEL 0 9 2.227633 KEEP 23 1 33 19 634 CC 0.994391 0.776679 0 5 41 178 0 0 16.645755 7 42 268 83 0.416667 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13300031 13300031 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13300031G>A NA NA None (None upstream) : AC134878.2 (40327 downstream) NA NA NA TTGTATGTTGGATGGTGTGTT 0.388 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13300031G>A NA hg19 0.02 6.070794 TTGxATG COVERED NOVEL 0 0 4.213568 KEEP 11 0 0 14 482 GG 0.994391 0.994391 0 7 60 229 0 0 15.708878 79 60 2824 219 0.081395 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13324032 13324032 __UNKNOWN__ IGR SNP C C T rs76038900 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13324032C>T NA NA None (None upstream) : AC134878.2 (16326 downstream) NA NA NA AGTACCCACCCCCGCTGCTGG 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13324032C>T NA hg19 0.02 2.154363 ACCxCCG UNCOVERED NOVEL 0 1 2.708834 KEEP 4 0 0 9 323 CC 0 0 0 7 48 254 0 0 19.30448 54 49 1948 115 0.114754 0.999919 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13324044 13324044 __UNKNOWN__ IGR SNP G G A rs80021304 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13324044G>A NA NA None (None upstream) : AC134878.2 (16314 downstream) NA NA NA CGCTGCTGGCGGTGCTCTCCC 0.572 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13324044G>A NA hg19 0.02 4.86381 GGCxGTG UNCOVERED NOVEL 0 1 2.40777 KEEP 5 0 0 8 279 GG 0 0 0 11 48 404 0 0 32.744932 55 57 1875 126 0.166667 0.999984 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13324138 13324138 __UNKNOWN__ IGR SNP A A G rs77061296 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13324138A>G NA NA None (None upstream) : AC134878.2 (16220 downstream) NA NA NA CCTTTTCCCAATGTAGTCCCT 0.577 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13324138A>G NA hg19 0.02 5.03602 CCAxTGT COVERED NOVEL 0 1 5.115938 KEEP 22 0 0 17 555 AA 0.99649 0.99648 0 9 52 339 0 0 27.251762 50 58 1821 175 0.152542 0.999989 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13346744 13346744 __UNKNOWN__ IGR SNP C C T rs79741058 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13346744C>T NA NA AC134878.1 (6111 upstream) : SLC9B1P1 (149496 downstream) NA NA NA gagcccaggacgtcaaggcaa 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13346744C>T NA hg19 0.02 -0.200418 GGAxGTC COVERED NOVEL 0 6 4.513612 KEEP 13 0 0 15 491 CG 0.993634 0.487421 0 2 22 80 0 0 6.406568 13 41 432 65 0.133333 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13433322 13433322 __UNKNOWN__ IGR SNP G G A rs376432801|rs6541525 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13433322G>A NA NA AC134878.1 (92689 upstream) : SLC9B1P1 (62918 downstream) NA NA NA ctactcaggaggctaaggcag 0.512 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13433322G>A NA hg19 0.02 -0.087733 GGAxGCT UNCOVERED NOVEL 0 1 2.708931 KEEP 1 0 0 9 324 GG 0.99257 0.09898 0 2 60 79 0 0 6.900573 6 60 223 23 0.25 0.099721 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13445937 13445937 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13445937C>T NA NA AC134878.1 (105304 upstream) : SLC9B1P1 (50303 downstream) NA NA NA aagttaaatacacagagatag 0.378 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13445937C>T NA hg19 0.02 2.135036 ATAxACA COVERED NOVEL 0 4 3.747836 KEEP 0 1 33 24 872 CC 0.999931 0.992025 0 4 60 150 0 0 11.507144 31 60 1208 117 0.114286 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13453173 13453173 __UNKNOWN__ IGR SNP C C G LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13453173C>G NA NA AC134878.1 (112540 upstream) : SLC9B1P1 (43067 downstream) NA NA NA ccattccattccattccattc 0.403 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13453173C>G NA hg19 0.02 1.968358 ATTxCAT COVERED NOVEL 0 38 3.283404 KEEP 92 2 72 36 1267 CC 0.999988 0.999714 0 5 41 185 0 1 14.72033 29 53 1097 300 0.147059 0.999726 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 13484188 13484188 __UNKNOWN__ IGR SNP T T A rs146807644 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:13484188T>A NA NA AC134878.1 (143555 upstream) : SLC9B1P1 (12052 downstream) NA NA NA atgtcataaatcccactgtag 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.13484188T>A NA hg19 0.02 2.241077 AAAxCCC UNCOVERED NOVEL 0 6 2.407082 KEEP 10 0 0 8 248 TT 0 0 0 3 49 111 0 0 10.759734 3 47 80 81 0.5 0.967425 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58972918 58972918 __UNKNOWN__ IGR SNP C C T rs207482190 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58972918C>T NA NA None (None upstream) : SPRY3 (127561 downstream) NA NA NA ccattccattcgattccattc 0.408 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58972918C>T NA hg19 0.02 -0.34213 ATTxGAT COVERED NOVEL 0 14 3.611697 KEEP 10 0 0 12 413 CC 0.99254 0.859287 0 2 60 74 0 0 7.524816 1 60 37 64 0.666667 0.865745 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58980097 58980097 __UNKNOWN__ IGR SNP C C T rs372865685 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58980097C>T NA NA None (None upstream) : SPRY3 (120382 downstream) NA NA NA cactcctttccactccactcc 0.502 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58980097C>T NA hg19 0.02 -0.298281 TTCxACT COVERED NOVEL 0 6 2.708767 KEEP 12 0 0 9 311 CC 0.99257 0.775257 0 2 60 74 1 0 6.400584 6 60 214 65 0.25 0.78106 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58980776 58980776 __UNKNOWN__ IGR SNP A A G rs373180006 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58980776A>G NA NA None (None upstream) : SPRY3 (119703 downstream) NA NA NA attccattccatttcactcca 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58980776A>G NA hg19 0.02 -0.359694 TCCxTTT UNCOVERED NOVEL 0 18 2.708082 KEEP 18 0 0 9 280 AA 0 0 0 2 47 69 0 2 6.649918 2 27 78 83 0.5 0.888875 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58980928 58980928 __UNKNOWN__ IGR SNP A A G rs375891362 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58980928A>G NA NA None (None upstream) : SPRY3 (119551 downstream) NA NA NA tttccattgcattccattcca 0.458 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58980928A>G NA hg19 0.02 -0.236868 TGCxTTC UNCOVERED NOVEL 0 8 2.407025 KEEP 4 0 0 8 243 AA 0 0 0 5 60 174 0 0 17.100088 4 60 146 48 0.555556 0.612407 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58993939 58993939 __UNKNOWN__ IGR SNP T T A rs4893769 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58993939T>A NA NA None (None upstream) : SPRY3 (106540 downstream) NA NA NA gtgatgaaacttttgtctagg 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58993939T>A NA hg19 0.02 -0.210561 AACxTTT COVERED NOVEL 0 10 3.310467 KEEP 8 0 0 11 361 TT 0.992708 0.548856 0 2 60 77 0 0 6.835503 5 60 186 60 0.285714 0.552887 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58993952 58993952 __UNKNOWN__ IGR SNP C C T rs4893768 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58993952C>T NA NA None (None upstream) : SPRY3 (106527 downstream) NA NA NA tgtctaggctctggctacacg 0.488 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58993952C>T NA hg19 0.02 -0.228113 GCTxTGG COVERED NOVEL 0 20 4.51487 KEEP 15 0 0 15 552 CC 0.994391 0.57966 0 2 60 81 0 0 7.235507 5 60 190 81 0.285714 0.58293 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 58993998 58993998 __UNKNOWN__ IGR SNP G G T rs4893767 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:58993998G>T NA NA None (None upstream) : SPRY3 (106481 downstream) NA NA NA tcacccaggtgatataactct 0.483 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.58993998G>T NA hg19 0.02 -0.201785 GGTxATA COVERED NOVEL 0 15 3.912373 KEEP 11 0 0 13 444 GG 0.993072 0.487146 0 2 60 74 0 0 7.150019 2 60 78 56 0.5 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59001472 59001472 __UNKNOWN__ IGR SNP G G A rs3866430 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59001472G>A NA NA None (None upstream) : SPRY3 (99007 downstream) NA NA NA TCCAGTCATCGTGGGCGTGGC 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59001472G>A NA hg19 0.02 2.088493 ATCxTGG COVERED NOVEL 0 6 3.912834 KEEP 0 0 0 13 463 GG 0.994391 0.986529 0 4 60 146 0 0 10.865301 36 60 1208 92 0.1 0.992094 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59001500 59001500 __UNKNOWN__ IGR SNP C C A rs141869091 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59001500C>A NA NA None (None upstream) : SPRY3 (98979 downstream) NA NA NA GGACTTCCTGCGTCCATGGAA 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59001500C>A NA hg19 0.02 2.208568 CTGxGTC COVERED NOVEL 0 3 3.608857 KEEP 0 0 0 12 378 CC 0.993634 0.988091 0 6 60 223 1 0 17.489555 39 60 1445 99 0.133333 0.994422 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59002047 59002047 __UNKNOWN__ IGR SNP C C G rs6568352 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59002047C>G NA NA None (None upstream) : SPRY3 (98432 downstream) NA NA NA TCCCTTCAGTCTACAGGGACT 0.423 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59002047C>G NA hg19 0.02 12.380921 AGTxTAC COVERED NOVEL 0 11 10.833823 KEEP 0 0 0 36 1288 CC 0.999999 0.999999 0 14 60 549 0 0 46.880676 51 60 1885 361 0.215385 1 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59004244 59004244 __UNKNOWN__ IGR SNP C C T rs4040912 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59004244C>T NA NA None (None upstream) : SPRY3 (96235 downstream) NA NA NA aggcagatcacctgaggtcag 0.542 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59004244C>T NA hg19 0.02 -0.201779 TCAxCTG COVERED NOVEL 0 2 2.742528 KEEP 0 1 28 19 665 CC 0.999863 0.490477 0 4 60 134 0 0 11.670981 10 60 354 56 0.285714 0.490544 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59005093 59005093 __UNKNOWN__ IGR SNP C C T rs4009887 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59005093C>T NA NA None (None upstream) : SPRY3 (95386 downstream) NA NA NA tgcactccagctggggtgaca 0.562 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59005093C>T NA hg19 0.02 -0.315832 CAGxTGG COVERED NOVEL 0 4 4.187449 KEEP 4 0 0 14 480 CC 0.992708 0.812496 0 3 49 107 0 0 7.808382 29 60 1078 57 0.09375 0.818465 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59007477 59007477 __UNKNOWN__ IGR SNP G G A rs7067285 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59007477G>A NA NA None (None upstream) : SPRY3 (93002 downstream) NA NA NA ctgtcaccccggctagagtgc 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59007477G>A NA hg19 0.02 -0.350804 CCCxGCT COVERED NOVEL 0 2 5.416816 KEEP 1 0 0 18 596 GG 0.999366 0.877152 0 3 60 109 0 0 8.733116 16 60 523 74 0.157895 0.877708 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59007587 59007587 __UNKNOWN__ IGR SNP C C T rs74843448 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59007587C>T NA NA None (None upstream) : SPRY3 (92892 downstream) NA NA NA cacaccactacacctggctaa 0.473 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59007587C>T NA hg19 0.02 -0.403402 CTAxACC COVERED NOVEL 0 5 2.442605 KEEP 0 1 31 19 659 CC 0.999863 0.934364 0 5 60 161 0 0 12.791578 23 60 864 85 0.178571 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59007598 59007598 __UNKNOWN__ IGR SNP T T A rs2333817 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59007598T>A NA NA None (None upstream) : SPRY3 (92881 downstream) NA NA NA acctggctaattttttgtgtg 0.468 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59007598T>A NA hg19 0.02 -0.403547 TAAxTTT COVERED NOVEL 0 5 6.018682 KEEP 0 0 0 20 653 TT 0.999863 0.934364 0 4 60 156 0 0 12.521899 24 60 859 79 0.142857 0.934492 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59008450 59008450 __UNKNOWN__ IGR SNP C C A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59008450C>A NA NA None (None upstream) : SPRY3 (92029 downstream) NA NA NA aatcccagcactttgggagac 0.463 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59008450C>A NA hg19 0.02 -0.394773 GCAxTTT COVERED NOVEL 0 10 7.057673 KEEP 0 1 30 34 1213 CC 0.999999 0.926639 0 3 60 97 0 0 6.575882 35 60 1323 101 0.078947 0.92664 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59008560 59008560 __UNKNOWN__ IGR SNP G G T rs4618907 LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59008560G>T NA NA None (None upstream) : SPRY3 (91919 downstream) NA NA NA gctgggcatggtggcacgtgc 0.532 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59008560G>T NA hg19 0.02 -0.245578 ATGxTGG COVERED NOVEL 0 7 3.646136 KEEP 1 1 28 22 790 GG 0.999879 0.64127 0 3 60 106 0 0 8.510276 15 60 515 58 0.166667 0.641347 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59022427 59022427 __UNKNOWN__ IGR SNP G G A LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59022427G>A NA NA None (None upstream) : SPRY3 (78052 downstream) NA NA NA tatgagctatgattcatcact 0.438 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59022427G>A NA hg19 0.02 -0.429877 TATxATT COVERED NOVEL 0 3 3.646911 KEEP 1 1 34 24 823 GG 0.999909 0.954405 0 3 60 107 0 0 7.231601 46 60 1740 91 0.061224 0.954491 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59023413 59023413 __UNKNOWN__ IGR SNP C C T LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59023413C>T NA NA None (None upstream) : SPRY3 (77066 downstream) NA NA NA ccctcccaccctttcccctgg 0.448 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59023413C>T NA hg19 0.02 -0.438632 ACCxTTT COVERED NOVEL 0 1 4.213599 KEEP 0 0 0 14 488 CC 0.995343 0.955389 0 5 60 182 0 0 13.671012 42 60 1533 87 0.106383 0.959859 Unknown 0 __UNKNOWN__ __UNKNOWN__ Y 59027291 59027291 __UNKNOWN__ IGR SNP C C T rs79661621 byFrequency LTS-007_T LTS-007_N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ LTS-007_1965-4J_T LTS-007_1965-4J_N g.chrY:59027291C>T NA NA None (None upstream) : SPRY3 (73188 downstream) NA NA NA aagagtgaaactctgtctcaa 0.453 NA NA NA NA NA NA NA NA NA NA NA 0 NA NA NA NA NA NA NA NA NA NA SO:0001628 intergenic_variant NA NA NA NA chrY.hg19:g.59027291C>T NA hg19 0.02 -0.228093 AAAxTCT COVERED NOVEL 0 6 6.019929 KEEP 2 0 0 20 738 CC 0.999859 0.582848 0 3 60 116 0 0 9.164014 20 60 759 58 0.130435 0.58293